#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
AACS	65985	genome.wustl.edu	37	12	125613986	125613986	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:125613986C>T	ENST00000316519.6	+	14	1735	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	AACS_ENST00000261686.6_Missense_Mutation_p.A510V|AACS_ENST00000545511.1_Missense_Mutation_p.R90C|AACS_ENST00000543665.1_Missense_Mutation_p.R10C|AACS_ENST00000316543.10_Missense_Mutation_p.A108V	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	510					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TACAGGAAGGCGTATTTCTCC	0.567																																																	0													150.0	150.0	150.0					12																	125613986		2203	4300	6503	SO:0001583	missense	0			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1529C>T	12.37:g.125613986C>T	ENSP00000324842:p.Ala510Val		Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	p.A510V	ENST00000316519.6	37	c.1529	CCDS9263.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.215111|5.215111	0.95104|0.95104	.|.	.|.	ENSG00000081760|ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000316543;ENST00000538851;ENST00000536118|ENST00000545511;ENST00000543665	T;T;T;T;T|.	0.42513|.	0.97;0.97;2.73;0.97;2.73|.	4.66|4.66	4.66|4.66	0.58398|0.58398	AMP-dependent synthetase/ligase (1);|.	0.103551|.	0.64402|.	D|.	0.000003|.	D|D	0.86936|0.86936	0.6053|0.6053	H|H	0.94542|0.94542	3.55|3.55	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.68483|.	0.958;0.955|.	D|D	0.90979|0.90979	0.4826|0.4826	10|6	0.87932|0.87932	D|D	0|0	.|.	17.7216|17.7216	0.88353|0.88353	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	510;510|.	Q86V21-2;Q86V21|.	.;AACS_HUMAN|.	V|C	510;510;108;175;65|90;10	ENSP00000324842:A510V;ENSP00000261686:A510V;ENSP00000324929:A108V;ENSP00000441686:A175V;ENSP00000441331:A65V|.	ENSP00000261686:A510V|ENSP00000442007:R10C	A|R	+|+	2|1	0|0	AACS|AACS	124179939|124179939	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.983000|0.983000	0.72400|0.72400	6.728000|6.728000	0.74769|0.74769	2.393000|2.393000	0.81446|0.81446	0.462000|0.462000	0.41574|0.41574	GCG|CGT	AACS	-	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	ENSG00000081760		0.567	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1	-	0.00	212	0	C	NM_023928		125613986	+1	tier1	-	no_errors	ENST00000316519	ensembl	human	known	74_37	missense	26.28	115	41	SNP	1.000	T
AACS	65985	genome.wustl.edu	37	12	125626670	125626670	+	Silent	SNP	C	C	T	rs148449574	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:125626670C>T	ENST00000316519.6	+	18	2120	c.1914C>T	c.(1912-1914)gcC>gcT	p.A638A	AACS_ENST00000261686.6_Missense_Mutation_p.R571C|AACS_ENST00000545511.1_Silent_p.A150A|AACS_ENST00000543665.1_Silent_p.A70A|AACS_ENST00000316543.10_Silent_p.A236A	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	638					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGGAAGTTGCCGTCAAACAGA	0.532													C|||	6	0.00119808	0.0045	0.0	5008	,	,		21452	0.0		0.0	False		,,,				2504	0.0																0								C		1,4405	2.1+/-5.4	0,1,2202	111.0	106.0	108.0		1914	-9.3	0.0	12	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	AACS	NM_023928.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		638/673	125626670	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1914C>T	12.37:g.125626670C>T			Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth	p.R571C	ENST00000316519.6	37	c.1711	CCDS9263.1	12	.	.	.	.	.	.	.	.	.	.	C	0.289	-0.980974	0.02197	2.27E-4	0.0	ENSG00000081760	ENST00000261686	T	0.09911	2.93	4.63	-9.26	0.00662	.	.	.	.	.	T	0.06371	0.0164	.	.	.	0.22292	N	0.999224	B	0.02656	0.0	B	0.01281	0.0	T	0.27331	-1.0077	8	0.33141	T	0.24	.	8.5829	0.33640	0.0623:0.1194:0.2491:0.5692	.	571	Q86V21-2	.	C	571	ENSP00000261686:R571C	ENSP00000261686:R571C	R	+	1	0	AACS	124192623	0.000000	0.05858	0.017000	0.16124	0.011000	0.07611	-5.621000	0.00109	-4.505000	0.00045	-1.079000	0.02226	CGT	AACS	-	NULL	ENSG00000081760		0.532	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AACS	HGNC	protein_coding	OTTHUMT00000400202.1	-	0.00	63	0	C	NM_023928		125626670	+1	tier1	rs148449574	no_errors	ENST00000261686	ensembl	human	known	74_37	missense	33.77	51	26	SNP	0.000	T
AAK1	22848	genome.wustl.edu	37	2	69704020	69704020	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:69704020delT	ENST00000409085.4	-	21	3159	c.2783delA	c.(2782-2784)aacfs	p.N928fs	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	928					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ACCTTGTGGGTTTTTGGTTAT	0.443																																																	0													118.0	119.0	119.0					2																	69704020		1860	4089	5949	SO:0001589	frameshift_variant	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2783delA	2.37:g.69704020delT	ENSP00000386456:p.Asn928fs		Q4ZFZ3|Q53RX6|Q9UPV4	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.N928fs	ENST00000409085.4	37	c.2783	CCDS1893.2	2																																																																																			AAK1	-	NULL	ENSG00000115977		0.443	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4		0.00	45	0	T	NM_014911		69704020	-1	tier1		no_errors	ENST00000409085	ensembl	human	known	74_37	frame_shift_del	35.00	26	14	DEL	1.000	-
AASDH	132949	genome.wustl.edu	37	4	57209044	57209044	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:57209044C>T	ENST00000205214.6	-	14	3044	c.2864G>A	c.(2863-2865)tGt>tAt	p.C955Y	AASDH_ENST00000513376.1_Missense_Mutation_p.C855Y|AASDH_ENST00000451613.1_Intron|AASDH_ENST00000434343.2_Missense_Mutation_p.C470Y|AASDH_ENST00000602986.1_Silent_p.L747L	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	955					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CCCATCTACACAGCCAATACA	0.333																																																	0													93.0	83.0	86.0					4																	57209044		2203	4300	6503	SO:0001583	missense	0			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.2864G>A	4.37:g.57209044C>T	ENSP00000205214:p.Cys955Tyr		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.C955Y	ENST00000205214.6	37	c.2864	CCDS3504.1	4	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208388	0.39003	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343	T;T;T	0.56444	0.46;0.46;0.46	6.05	4.28	0.50868	Quinonprotein alcohol dehydrogenase-like (2);	0.137208	0.64402	D	0.000002	T	0.70710	0.3255	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.73767	-0.3879	10	0.87932	D	0	-13.1188	13.3415	0.60547	0.1267:0.7517:0.1216:0.0	.	955	Q4L235	ACSF4_HUMAN	Y	955;855;470	ENSP00000205214:C955Y;ENSP00000423760:C855Y;ENSP00000392158:C470Y	ENSP00000205214:C955Y	C	-	2	0	AASDH	56903801	1.000000	0.71417	0.974000	0.42286	0.064000	0.16182	5.073000	0.64395	0.843000	0.35070	0.650000	0.86243	TGT	AASDH	-	superfamily_Quinonprotein_ADH-like_supfam	ENSG00000157426		0.333	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	HGNC	protein_coding	OTTHUMT00000250780.1	-	0.00	21	0	C	NM_181806		57209044	-1	tier1	-	no_errors	ENST00000205214	ensembl	human	known	74_37	missense	46.67	16	14	SNP	0.999	T
ABCA12	26154	genome.wustl.edu	37	2	215855716	215855716	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:215855716A>T	ENST00000272895.7	-	24	3553	c.3334T>A	c.(3334-3336)Ttt>Att	p.F1112I	ABCA12_ENST00000389661.4_Missense_Mutation_p.F794I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1112					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCCAGGCAAAGAAATGGCTG	0.363																																					Ovarian(66;664 1488 5121 34295)												0													75.0	78.0	77.0					2																	215855716		2203	4300	6503	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3334T>A	2.37:g.215855716A>T	ENSP00000272895:p.Phe1112Ile		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F1112I	ENST00000272895.7	37	c.3334	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917010	0.52546	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.83591	-1.74;-1.74	5.39	5.39	0.77823	.	0.161726	0.44902	D	0.000404	T	0.76307	0.3969	L	0.45137	1.4	0.80722	D	1	P;B	0.39576	0.679;0.044	B;B	0.38327	0.271;0.073	T	0.74819	-0.3535	10	0.30854	T	0.27	.	11.4036	0.49885	0.8569:0.0:0.0:0.1431	.	1112;794	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	I	1112;794	ENSP00000272895:F1112I;ENSP00000374312:F794I	ENSP00000272895:F1112I	F	-	1	0	ABCA12	215563961	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.951000	0.63610	2.263000	0.75096	0.528000	0.53228	TTT	ABCA12	-	NULL	ENSG00000144452		0.363	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0.00	15	0	A	NM_173076		215855716	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	missense	56.25	7	9	SNP	1.000	T
ABCA12	26154	genome.wustl.edu	37	2	215940284	215940285	+	Intron	DEL	AA	AA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:215940284_215940285delAA	ENST00000272895.7	-	3	383				ABCA12_ENST00000412081.1_Frame_Shift_Del_p.S74fs	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12						cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		tttatGCAGGAAAAAAAAAAAA	0.376																																					Ovarian(66;664 1488 5121 34295)												0																																										SO:0001627	intron_variant	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.164-11342TT>-	2.37:g.215940294_215940295delAA			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Frame_Shift_Del	DEL	NULL	p.S74fs	ENST00000272895.7	37	c.220_219	CCDS33372.1	2																																																																																			ABCA12	-	NULL	ENSG00000144452		0.376	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1		0.00	32	0	AA	NM_173076		215940285	-1	tier1		no_errors	ENST00000412081	ensembl	human	novel	74_37	frame_shift_del	32.14	19	9	DEL	0.082:0.069	-
ABCA13	154664	genome.wustl.edu	37	7	48312959	48312959	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:48312959G>A	ENST00000435803.1	+	17	3720	c.3696G>A	c.(3694-3696)agG>agA	p.R1232R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1232					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGATCTCAGGGATTTTTTGG	0.383																																																	0													45.0	44.0	44.0					7																	48312959		1830	4077	5907	SO:0001819	synonymous_variant	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3696G>A	7.37:g.48312959G>A			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R1232	ENST00000435803.1	37	c.3696	CCDS47584.1	7																																																																																			ABCA13	-	NULL	ENSG00000179869		0.383	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0.00	24	0	G	NM_152701		48312959	+1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	silent	43.48	13	10	SNP	0.030	A
ABCA2	20	genome.wustl.edu	37	9	139908434	139908434	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139908434C>T	ENST00000371605.3	-	27	4441	c.4294G>A	c.(4294-4296)Ggg>Agg	p.G1432R	ABCA2_ENST00000341511.6_Missense_Mutation_p.G1433R|ABCA2_ENST00000265662.5_Missense_Mutation_p.G1433R			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1432					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTCAGCCACCCGCCGTCCAGC	0.662																																																	0													34.0	43.0	40.0					9																	139908434		2094	4201	6295	SO:0001583	missense	0			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4294G>A	9.37:g.139908434C>T	ENSP00000360666:p.Gly1432Arg		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G1433R	ENST00000371605.3	37	c.4297		9	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328938	0.24167	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.93133	-3.17;-3.17;-3.17	4.7	3.55	0.40652	.	1.202520	0.05857	U	0.622249	D	0.87573	0.6211	N	0.14661	0.345	0.24747	N	0.993006	B;B	0.15141	0.007;0.012	B;B	0.04013	0.001;0.001	T	0.73861	-0.3849	10	0.30078	T	0.28	.	11.3066	0.49338	0.8395:0.1605:0.0:0.0	.	1432;1463	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	R	1433;1432;1463;1433	ENSP00000265662:G1433R;ENSP00000360666:G1432R;ENSP00000344155:G1433R	ENSP00000265662:G1433R	G	-	1	0	ABCA2	139028255	1.000000	0.71417	1.000000	0.80357	0.234000	0.25298	5.788000	0.69020	0.641000	0.30601	-0.500000	0.04577	GGG	ABCA2	-	NULL	ENSG00000107331		0.662	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		-	0.00	11	0	C	NM_001606		139908434	-1	tier1	-	no_errors	ENST00000265662	ensembl	human	known	74_37	missense	75.00	2	6	SNP	1.000	T
ABCA2	20	genome.wustl.edu	37	9	139909958	139909958	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139909958C>T	ENST00000371605.3	-	23	3749	c.3602G>A	c.(3601-3603)tGc>tAc	p.C1201Y	ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_Missense_Mutation_p.C1202Y|ABCA2_ENST00000265662.5_Missense_Mutation_p.C1202Y			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1201	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGAGCCGCAGCACTTGAGCTT	0.652																																																	0													36.0	40.0	39.0					9																	139909958		2193	4291	6484	SO:0001583	missense	0			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.3602G>A	9.37:g.139909958C>T	ENSP00000360666:p.Cys1201Tyr		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.C1202Y	ENST00000371605.3	37	c.3605		9	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853229	0.71719	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.81499	-1.5;-1.5;-1.5	3.94	3.94	0.45596	ABC transporter-like (1);	0.230970	0.44902	U	0.000403	D	0.83977	0.5371	L	0.37507	1.11	0.80722	D	1	D;D	0.69078	0.993;0.997	P;D	0.66497	0.876;0.944	D	0.86527	0.1819	10	0.87932	D	0	.	15.7362	0.77846	0.0:1.0:0.0:0.0	.	1201;1232	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	Y	1202;1201;1232;1202	ENSP00000265662:C1202Y;ENSP00000360666:C1201Y;ENSP00000344155:C1202Y	ENSP00000265662:C1202Y	C	-	2	0	ABCA2	139029779	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	7.470000	0.80973	2.034000	0.60081	0.313000	0.20887	TGC	ABCA2	-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like	ENSG00000107331		0.652	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		-	0.00	129	0	C	NM_001606		139909958	-1	tier1	-	no_errors	ENST00000265662	ensembl	human	known	74_37	missense	40.45	53	36	SNP	1.000	T
ABCA8	10351	genome.wustl.edu	37	17	66872639	66872639	+	Silent	SNP	C	C	T	rs143428358		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:66872639C>T	ENST00000269080.2	-	33	4349	c.4212G>A	c.(4210-4212)ccG>ccA	p.P1404P	ABCA8_ENST00000430352.2_Silent_p.P1444P|ABCA8_ENST00000586539.1_Silent_p.P1444P	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1404	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCCCGGTCGACGGCTCATCCA	0.577																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	136.0	125.0	128.0		4212	-3.1	0.0	17	dbSNP_134	128	0,8600		0,0,4300	no	coding-synonymous	ABCA8	NM_007168.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1404/1582	66872639	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4212G>A	17.37:g.66872639C>T			A1L3U3|C9JQE6|Q86WW0	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P1444	ENST00000269080.2	37	c.4332	CCDS11680.1	17																																																																																			ABCA8	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000141338		0.577	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	-	0.00	63	0	C	NM_007168		66872639	-1	tier1	rs143428358	no_errors	ENST00000430352	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.055	T
ABCA6	23460	genome.wustl.edu	37	17	67125767	67125767	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:67125767delA	ENST00000284425.2	-	7	1091	c.917delT	c.(916-918)ttafs	p.L306fs		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	306					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TAAGCCATATAAAAAAAAGAG	0.308																																																	0													75.0	81.0	79.0					17																	67125767		2202	4295	6497	SO:0001589	frameshift_variant	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.917delT	17.37:g.67125767delA	ENSP00000284425:p.Leu306fs		Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Del	DEL	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L306fs	ENST00000284425.2	37	c.917	CCDS11683.1	17																																																																																			ABCA6	-	NULL	ENSG00000154262		0.308	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1		0.00	30	0	A	NM_080284		67125767	-1	tier1		no_errors	ENST00000284425	ensembl	human	known	74_37	frame_shift_del	43.33	17	13	DEL	1.000	-
ABCA5	23461	genome.wustl.edu	37	17	67260954	67260954	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:67260954G>A	ENST00000392676.3	-	24	3301	c.3237C>T	c.(3235-3237)atC>atT	p.I1079I	ABCA5_ENST00000392677.2_Silent_p.I1080I|ABCA5_ENST00000588877.1_Silent_p.I1079I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1079					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AAATAAGAATGATAAAAAATA	0.313																																																	0													59.0	61.0	61.0					17																	67260954		2203	4296	6499	SO:0001819	synonymous_variant	0			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3237C>T	17.37:g.67260954G>A			Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I1080	ENST00000392676.3	37	c.3240	CCDS11685.1	17																																																																																			ABCA5	-	NULL	ENSG00000154265		0.313	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	-	0.00	27	0	G	NM_018672		67260954	-1	tier1	-	no_errors	ENST00000392677	ensembl	human	known	74_37	silent	34.88	28	15	SNP	0.054	A
ABCB10	23456	genome.wustl.edu	37	1	229654633	229654633	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:229654633delA	ENST00000344517.4	-	12	1993				ABCB10_ENST00000498158.1_5'UTR	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10						transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CTGAAGAAGGAAAAAAAAGGA	0.308																																																	0													48.0	55.0	52.0					1																	229654633		2196	4295	6491	SO:0001627	intron_variant	0			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1951-11T>-	1.37:g.229654633delA			Q13040|Q6P1Q8|Q9H3V0	RNA	DEL	-	NULL	ENST00000344517.4	37	NULL	CCDS1580.1	1																																																																																			ABCB10	-	-	ENSG00000135776		0.308	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB10	HGNC	protein_coding	OTTHUMT00000095240.1		0.00	34	0	A	NM_012089		229654633	-1	tier1		no_errors	ENST00000498158	ensembl	human	known	74_37	rna	22.81	44	13	DEL	0.079	-
ABCB6	10058	genome.wustl.edu	37	2	220081123	220081123	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:220081123G>T	ENST00000265316.3	-	4	1249	c.933C>A	c.(931-933)ttC>ttA	p.F311L	ABCB6_ENST00000439002.2_Missense_Mutation_p.F265L	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	311	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAACTTGAGGAAGACGTAAC	0.562																																																	0													96.0	104.0	101.0					2																	220081123		2203	4300	6503	SO:0001583	missense	0			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.933C>A	2.37:g.220081123G>T	ENSP00000265316:p.Phe311Leu		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.F311L	ENST00000265316.3	37	c.933	CCDS2436.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.594|4.594	0.110395|0.110395	0.08780|0.08780	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000265316;ENST00000439002|ENST00000295750	D;D|.	0.89343|.	-2.5;-2.5|.	5.17|5.17	2.29|2.29	0.28610|0.28610	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);|.	0.251597|.	0.40554|.	N|.	0.001068|.	T|T	0.10465|0.10465	0.0256|0.0256	N|N	0.00873|0.00873	-1.125|-1.125	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.001;0.002|.	T|T	0.06972|0.06972	-1.0797|-1.0797	10|5	0.05525|.	T|.	0.97|.	-7.9332|-7.9332	2.4978|2.4978	0.04626|0.04626	0.2231:0.1359:0.5163:0.1248|0.2231:0.1359:0.5163:0.1248	.|.	265;311|.	Q9NP58-4;Q9NP58|.	.;ABCB6_HUMAN|.	L|Y	311;265|159	ENSP00000265316:F311L;ENSP00000394333:F265L|.	ENSP00000265316:F311L|.	F|S	-|-	3|2	2|0	ABCB6|ABCB6	219789367|219789367	0.983000|0.983000	0.35010|0.35010	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	0.675000|0.675000	0.25232|0.25232	0.767000|0.767000	0.33267|0.33267	-0.157000|-0.157000	0.13467|0.13467	TTC|TCC	ABCB6	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom	ENSG00000115657		0.562	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB6	HGNC	protein_coding	OTTHUMT00000256820.2	-	0.00	59	0	G	NM_005689		220081123	-1	tier1	-	no_errors	ENST00000265316	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.996	T
ABCC10	89845	genome.wustl.edu	37	6	43395732	43395732	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:43395732G>T	ENST00000372530.4	+	2	231	c.16G>T	c.(16-18)Gcc>Tcc	p.A6S	ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	6					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	ACGACTTCTGGCCCAGCTGTG	0.672																																																	0													21.0	20.0	20.0					6																	43395732		876	1990	2866	SO:0001583	missense	0			U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.16G>T	6.37:g.43395732G>T	ENSP00000361608:p.Ala6Ser		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.A6S	ENST00000372530.4	37	c.16	CCDS56430.1	6	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579198	0.65878	.	.	ENSG00000124574	ENST00000372530	T	0.40756	1.02	5.13	3.15	0.36227	.	0.254971	0.38058	N	0.001830	T	0.13200	0.0320	L	0.33485	1.01	0.80722	D	1	B	0.27498	0.18	B	0.27380	0.079	T	0.04320	-1.0960	10	0.11182	T	0.66	-32.0076	10.3872	0.44148	0.0794:0.0:0.7823:0.1384	.	6	Q5T3U5	MRP7_HUMAN	S	6	ENSP00000361608:A6S	ENSP00000361608:A6S	A	+	1	0	ABCC10	43503710	0.953000	0.32496	1.000000	0.80357	0.844000	0.47949	0.698000	0.25571	1.359000	0.45940	0.650000	0.86243	GCC	ABCC10	-	NULL	ENSG00000124574		0.672	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC10	HGNC	protein_coding	OTTHUMT00000040603.2	-	0.00	87	0	G	NM_033450		43395732	+1	tier1	-	no_errors	ENST00000372530	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.996	T
ABCC11	85320	genome.wustl.edu	37	16	48264408	48264408	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:48264408G>T	ENST00000394747.1	-	2	525	c.176C>A	c.(175-177)cCa>cAa	p.P59Q	ABCC11_ENST00000394748.1_Missense_Mutation_p.P59Q|ABCC11_ENST00000356608.2_Missense_Mutation_p.P59Q|ABCC11_ENST00000353782.5_Missense_Mutation_p.P59Q|ABCC11_ENST00000537808.1_Missense_Mutation_p.P59Q	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	59					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CCCCCACGGTGGGACAGCTGC	0.542																																																	0													69.0	63.0	65.0					16																	48264408		2200	4300	6500	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.176C>A	16.37:g.48264408G>T	ENSP00000378230:p.Pro59Gln		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.P59Q	ENST00000394747.1	37	c.176	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	G	8.959	0.970138	0.18659	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92099	-2.8;-2.71;-2.71;-2.71;-2.97	4.48	-5.49	0.02584	.	0.946702	0.08851	N	0.884437	T	0.79930	0.4531	L	0.29908	0.895	0.09310	N	1	B;B	0.29508	0.246;0.007	B;B	0.26614	0.071;0.004	T	0.69335	-0.5172	10	0.14252	T	0.57	8.0E-4	1.2088	0.01900	0.2945:0.2839:0.2826:0.139	.	59;59	Q96J66-2;Q96J66	.;ABCCB_HUMAN	Q	59	ENSP00000311326:P59Q;ENSP00000349017:P59Q;ENSP00000378231:P59Q;ENSP00000378230:P59Q;ENSP00000438530:P59Q	ENSP00000311326:P59Q	P	-	2	0	ABCC11	46821909	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.573000	0.05874	-1.668000	0.01471	-0.469000	0.05056	CCA	ABCC11	-	NULL	ENSG00000121270		0.542	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	-	0.00	45	0	G	NM_032583		48264408	-1	tier1	-	no_errors	ENST00000356608	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.000	T
ABCC13	150000	genome.wustl.edu	37	21	15663705	15663707	+	RNA	DEL	AAA	AAA	-	rs372000716|rs60305358	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:15663705_15663707delAAA	ENST00000482980.1	+	0	712							Q9NSE7	ABCCD_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene							integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)										TGATTTTACTAAAAAAAAAAAAA	0.365																																					Ovarian(111;916 1572 1777 20423 38208)												0																																												0			AF418600		21q11.2	2012-03-14	2010-04-29		ENSG00000243064	ENSG00000243064		"""ATP binding cassette transporters / subfamily C"""	16022	pseudogene	pseudogene		608835	"""ATP-binding cassette, sub-family C (CFTR/MRP), member 13"""			10049586	Standard	NR_003087		Approved	PRED6, C21orf73	uc002yjr.3	Q9NSE7	OTTHUMG00000074257		21.37:g.15663714_15663716delAAA			Q8N6A4|Q8N6A5	RNA	DEL	-	NULL	ENST00000482980.1	37	NULL		21																																																																																			ABCC13	-	-	ENSG00000243064		0.365	ABCC13-004	KNOWN	non_canonical_polymorphism|basic	processed_transcript	ABCC13	HGNC	pseudogene	OTTHUMT00000157809.3		0.00	35	0	AAA			15663707	+1	tier1		no_errors	ENST00000471902	ensembl	human	putative	74_37	rna	16.67	35	7	DEL	0.001:0.000:0.000	-
ABCC13	150000	genome.wustl.edu	37	21	15663705	15663708	+	RNA	DEL	AAAA	AAAA	-	rs372000716|rs60305358	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:15663705_15663708delAAAA	ENST00000482980.1	+	0	712							Q9NSE7	ABCCD_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene							integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)										TGATTTTACTAAAAAAAAAAAAAA	0.363																																					Ovarian(111;916 1572 1777 20423 38208)												0																																												0			AF418600		21q11.2	2012-03-14	2010-04-29		ENSG00000243064	ENSG00000243064		"""ATP binding cassette transporters / subfamily C"""	16022	pseudogene	pseudogene		608835	"""ATP-binding cassette, sub-family C (CFTR/MRP), member 13"""			10049586	Standard	NR_003087		Approved	PRED6, C21orf73	uc002yjr.3	Q9NSE7	OTTHUMG00000074257		21.37:g.15663713_15663716delAAAA			Q8N6A4|Q8N6A5	RNA	DEL	-	NULL	ENST00000482980.1	37	NULL		21																																																																																			ABCC13	-	-	ENSG00000243064		0.363	ABCC13-004	KNOWN	non_canonical_polymorphism|basic	processed_transcript	ABCC13	HGNC	pseudogene	OTTHUMT00000157809.3		0.00	35	0	AAAA			15663708	+1	tier1		no_errors	ENST00000471902	ensembl	human	putative	74_37	rna	11.90	37	5	DEL	0.001:0.000:0.000:0.000	-
ABCC8	6833	genome.wustl.edu	37	11	17414565	17414565	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:17414565G>A	ENST00000389817.3	-	39	4787	c.4719C>T	c.(4717-4719)ttC>ttT	p.F1573F	ABCC8_ENST00000302539.4_Silent_p.F1574F			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1573	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CGAAGGAGGCGAAGACGCTGT	0.572																																																	0													117.0	97.0	104.0					11																	17414565		2200	4293	6493	SO:0001819	synonymous_variant	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4719C>T	11.37:g.17414565G>A			A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.F1574	ENST00000389817.3	37	c.4722	CCDS31437.1	11																																																																																			ABCC8	-	pfscan_ABC_transporter-like	ENSG00000006071		0.572	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	-	0.00	65	0	G	NM_000352		17414565	-1	tier1	-	no_errors	ENST00000302539	ensembl	human	known	74_37	silent	34.78	30	16	SNP	0.980	A
ABCE1	6059	genome.wustl.edu	37	4	146033434	146033434	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:146033434C>T	ENST00000296577.4	+	9	1269	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	252	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TGTCAAGCAGCGTTTAAAGGC	0.318																																																	0													62.0	58.0	60.0					4																	146033434		2202	4300	6502	SO:0001583	missense	0			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.754C>T	4.37:g.146033434C>T	ENSP00000296577:p.Arg252Cys		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E	p.R252C	ENST00000296577.4	37	c.754	CCDS34071.1	4	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626299	0.87560	.	.	ENSG00000164163	ENST00000296577	D	0.84800	-1.9	5.54	5.54	0.83059	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.92551	0.7634	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92761	0.6224	10	0.87932	D	0	-47.5903	19.8328	0.96642	0.0:1.0:0.0:0.0	.	252	P61221	ABCE1_HUMAN	C	252	ENSP00000296577:R252C	ENSP00000296577:R252C	R	+	1	0	ABCE1	146252884	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.923000	0.48868	2.758000	0.94735	0.591000	0.81541	CGT	ABCE1	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000164163		0.318	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCE1	HGNC	protein_coding	OTTHUMT00000365104.1	-	0.00	70	0	C	NM_002940		146033434	+1	tier1	-	no_errors	ENST00000296577	ensembl	human	known	74_37	missense	32.58	60	29	SNP	1.000	T
ABCG1	9619	genome.wustl.edu	37	21	43691299	43691299	+	Splice_Site	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:43691299T>C	ENST00000361802.2	+	3	549		c.e3+2		ABCG1_ENST00000398437.1_Splice_Site|ABCG1_ENST00000340588.4_Splice_Site|ABCG1_ENST00000347800.2_Splice_Site|ABCG1_ENST00000462050.1_Splice_Site|ABCG1_ENST00000398457.2_Splice_Site|ABCG1_ENST00000398449.3_Splice_Site|ABCG1_ENST00000343687.3_Splice_Site	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1						amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TGGATACAGGTGAGCAGCCCT	0.597																																																	0													71.0	71.0	71.0					21																	43691299		2203	4300	6503	SO:0001630	splice_region_variant	0			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.404+2T>C	21.37:g.43691299T>C			Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Splice_Site	SNP	-	e4+2	ENST00000361802.2	37	c.842+2	CCDS13682.1	21	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766687	0.69878	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000450121;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6615	0.68876	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCG1	42564368	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	7.553000	0.82203	1.998000	0.58463	0.533000	0.62120	.	ABCG1	-	-	ENSG00000160179		0.597	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	-	0.00	40	0	T	NM_207174	Intron	43691299	+1	tier1	-	no_errors	ENST00000398437	ensembl	human	known	74_37	splice_site	45.45	24	20	SNP	1.000	C
ABHD10	55347	genome.wustl.edu	37	3	111705797	111705797	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:111705797C>T	ENST00000273359.3	+	4	502	c.475C>T	c.(475-477)Ctt>Ttt	p.L159F	ABHD10_ENST00000534857.1_Missense_Mutation_p.L2F|ABHD10_ENST00000494817.1_Missense_Mutation_p.L159F	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	159					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						GTGGCTTATGCTTCATGCTGC	0.373																																																	0													140.0	130.0	133.0					3																	111705797		2203	4300	6503	SO:0001583	missense	0			AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"""Abhydrolase domain containing"""	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.475C>T	3.37:g.111705797C>T	ENSP00000273359:p.Leu159Phe		B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_Peptidase_S9	p.L159F	ENST00000273359.3	37	c.475	CCDS2963.1	3	.	.	.	.	.	.	.	.	.	.	C	16.69	3.193745	0.58017	.	.	ENSG00000144827	ENST00000534857;ENST00000273359;ENST00000494817	T;T;T	0.72615	0.38;0.38;-0.67	6.08	4.31	0.51392	.	0.130701	0.53938	N	0.000057	T	0.74015	0.3661	M	0.77616	2.38	0.53688	D	0.999977	P	0.35628	0.513	B	0.41466	0.358	T	0.73078	-0.4096	10	0.45353	T	0.12	.	12.185	0.54234	0.0:0.8601:0.0:0.1399	.	159	Q9NUJ1	ABHDA_HUMAN	F	2;159;159	ENSP00000442932:L2F;ENSP00000273359:L159F;ENSP00000418973:L159F	ENSP00000273359:L159F	L	+	1	0	ABHD10	113188487	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.280000	0.43443	0.915000	0.36847	0.591000	0.81541	CTT	ABHD10	-	pfam_AB_hydrolase_1,pfam_Peptidase_S9	ENSG00000144827		0.373	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD10	HGNC	protein_coding	OTTHUMT00000354326.1	-	0.00	53	0	C	NM_018394		111705797	+1	tier1	-	no_errors	ENST00000273359	ensembl	human	known	74_37	missense	37.50	30	18	SNP	1.000	T
ABHD17B	51104	genome.wustl.edu	37	9	74481778	74481778	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:74481778G>T	ENST00000333421.6	-	4	903	c.792C>A	c.(790-792)caC>caA	p.H264Q	ABHD17B_ENST00000377041.2_Missense_Mutation_p.H264Q	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	264						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										CCACATCATTGTGACCTGCTC	0.418																																																	0													84.0	77.0	80.0					9																	74481778		2203	4300	6503	SO:0001583	missense	0			AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.792C>A	9.37:g.74481778G>T	ENSP00000330222:p.His264Gln		A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Dienelactn_hydro	p.H264Q	ENST00000333421.6	37	c.792	CCDS35043.1	9	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229033	0.58777	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	D;D	0.91351	-2.83;-2.83	5.59	2.75	0.32379	.	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96641	0.9474	10	0.87932	D	0	-9.0975	10.9748	0.47459	0.278:0.0:0.722:0.0	.	264;264	Q5VST6;Q5VST6-2	F108B_HUMAN;.	Q	264	ENSP00000366240:H264Q;ENSP00000330222:H264Q	ENSP00000330222:H264Q	H	-	3	2	FAM108B1	73671598	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.279000	0.51670	0.850000	0.35239	0.655000	0.94253	CAC	ABHD17B	-	pfam_Peptidase_S9,pfam_Dienelactn_hydro	ENSG00000107362		0.418	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABHD17B	HGNC	protein_coding	OTTHUMT00000052625.1	-	0.00	62	0	G	NM_016014		74481778	-1	tier1	-	no_errors	ENST00000377041	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	T
ABLIM1	3983	genome.wustl.edu	37	10	116205099	116205099	+	Missense_Mutation	SNP	C	C	T	rs148624929		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:116205099C>T	ENST00000277895.5	-	16	1896	c.1799G>A	c.(1798-1800)cGg>cAg	p.R600Q	ABLIM1_ENST00000392952.3_Missense_Mutation_p.R277Q|ABLIM1_ENST00000369253.2_Missense_Mutation_p.R223Q|ABLIM1_ENST00000369266.3_Missense_Mutation_p.R277Q|ABLIM1_ENST00000369252.4_Missense_Mutation_p.R540Q|ABLIM1_ENST00000533213.2_Missense_Mutation_p.R540Q	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	600					axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TTGAAGCTGCCGACGTCTCAG	0.418																																																	0								C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	235.0	208.0	217.0		1619,1703,1799,830	6.1	1.0	10	dbSNP_134	217	0,8600		0,0,4300	no	missense,missense,missense,missense	ABLIM1	NM_001003407.1,NM_001003408.1,NM_002313.5,NM_006720.3	43,43,43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	540/719,568/747,600/779,277/456	116205099	2,13004	2203	4300	6503	SO:0001583	missense	0			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.1799G>A	10.37:g.116205099C>T	ENSP00000277895:p.Arg600Gln		A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.R600Q	ENST00000277895.5	37	c.1799	CCDS7590.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.013310|5.013310	0.93346|0.93346	4.54E-4|4.54E-4	0.0|0.0	ENSG00000099204|ENSG00000099204	ENST00000392955|ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253	.|T;T;T;T	.|0.29142	.|1.58;1.58;1.58;1.58	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	.|0.061947	.|0.64402	.|D	.|0.000005	T|T	0.52901|0.52901	0.1763|0.1763	M|M	0.75264|0.75264	2.295|2.295	0.52099|0.52099	D|D	0.999941|0.999941	.|P;P;D;P;B;D;B;P;P	.|0.65815	.|0.88;0.88;0.971;0.944;0.226;0.995;0.259;0.944;0.939	.|B;B;P;P;B;P;B;B;P	.|0.57152	.|0.122;0.173;0.586;0.449;0.018;0.814;0.038;0.279;0.657	T|T	0.49716|0.49716	-0.8910|-0.8910	5|10	.|0.52906	.|T	.|0.07	.|.	18.8526|18.8526	0.92238|0.92238	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|477;202;540;568;600;277;570;524;223	.|B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.|.;.;.;.;ABLM1_HUMAN;.;.;.;.	S|Q	474|600;540;277;223;568;540;668;524;277;524;477;668;352	.|ENSP00000358256:R540Q;ENSP00000376679:R277Q;ENSP00000433629:R540Q;ENSP00000358270:R277Q	.|ENSP00000277895:R668Q	G|R	-|-	1|2	0|0	ABLIM1|ABLIM1	116195089|116195089	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.705000|0.705000	0.40729|0.40729	4.184000|4.184000	0.58323|0.58323	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GGC|CGG	ABLIM1	-	NULL	ENSG00000099204		0.418	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABLIM1	HGNC	protein_coding	OTTHUMT00000050469.3	-	0.00	95	0	C			116205099	-1	tier1	rs148624929	no_errors	ENST00000277895	ensembl	human	known	74_37	missense	40.00	36	24	SNP	1.000	T
ABLIM3	22885	genome.wustl.edu	37	5	148630032	148630032	+	Silent	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:148630032C>A	ENST00000506113.1	+	19	2234	c.1752C>A	c.(1750-1752)gcC>gcA	p.A584A	RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Silent_p.A473A|ABLIM3_ENST00000326685.7_Silent_p.A489A|ABLIM3_ENST00000508983.1_Silent_p.A551A|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000309868.7_Silent_p.A584A|ABLIM3_ENST00000504238.1_Silent_p.A473A|ABLIM3_ENST00000517451.1_Silent_p.A70A			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	584					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAATCTGCCTCCCTGCCTG	0.507																																																	0													123.0	110.0	115.0					5																	148630032		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1752C>A	5.37:g.148630032C>A			A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Silent	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.A584	ENST00000506113.1	37	c.1752	CCDS4294.1	5																																																																																			ABLIM3	-	NULL	ENSG00000173210		0.507	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABLIM3	HGNC	protein_coding	OTTHUMT00000373435.1	-	0.00	104	0	C	NM_014945		148630032	+1	tier1	-	no_errors	ENST00000309868	ensembl	human	known	74_37	silent	42.68	47	35	SNP	1.000	A
ABR	29	genome.wustl.edu	37	17	916344	916344	+	Splice_Site	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:916344delC	ENST00000302538.5	-	17	1998		c.e17+1		ABR_ENST00000536794.2_Splice_Site|ABR_ENST00000574437.1_Splice_Site|ABR_ENST00000572441.1_Splice_Site|ABR_ENST00000543210.2_Splice_Site|ABR_ENST00000544583.2_Splice_Site|ABR_ENST00000291107.2_Splice_Site	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCCCGGCTCACCCCGTTCATC	0.637																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)												0													223.0	169.0	187.0					17																	916344		2203	4300	6503	SO:0001630	splice_region_variant	0			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1851+1G>-	17.37:g.916344delC			B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Splice_Site	DEL	-	e17+1	ENST00000302538.5	37	c.1851+1	CCDS10999.1	17																																																																																			ABR	-	-	ENSG00000159842		0.637	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4		0.00	99	0	C		Intron	916344	-1	tier1		no_errors	ENST00000302538	ensembl	human	known	74_37	splice_site_del	33.33	48	24	DEL	1.000	-
ACACA	31	genome.wustl.edu	37	17	35557399	35557399	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:35557399G>T	ENST00000394406.2	-	34	4163	c.3973C>A	c.(3973-3975)Cgg>Agg	p.R1325R	ACACA_ENST00000360679.3_Silent_p.R1267R|ACACA_ENST00000353139.5_Silent_p.R1362R|ACACA_ENST00000335166.5_Silent_p.R1247R	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1325					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GTAAGGCGCCGGATCCCATGG	0.393																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													65.0	63.0	63.0					17																	35557399		2203	4300	6503	SO:0001819	synonymous_variant	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.3973C>A	17.37:g.35557399G>T			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.R1362	ENST00000394406.2	37	c.4084	CCDS11317.1	17																																																																																			ACACA	-	pfam_AcCoA_COase_cen	ENSG00000132142		0.393	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1		0.00	13	0	G	NM_198836		35557399	-1			no_errors	ENST00000353139	ensembl	human	known	74_37	silent	9.09	30	3	SNP	0.985	T
ACLY	47	genome.wustl.edu	37	17	40066524	40066524	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:40066524G>T	ENST00000352035.2	-	4	426	c.296C>A	c.(295-297)aCa>aAa	p.T99K	ACLY_ENST00000590151.1_Missense_Mutation_p.T99K|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Missense_Mutation_p.T99K|ACLY_ENST00000353196.1_Missense_Mutation_p.T99K	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	99	ATP-grasp.				ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GAGGAAGCCTGTGGCCTTGCC	0.582																																					Colon(64;807 1396 15971 30971)												0													56.0	55.0	55.0					17																	40066524		2203	4300	6503	SO:0001583	missense	0			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.296C>A	17.37:g.40066524G>T	ENSP00000253792:p.Thr99Lys		B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.T99K	ENST00000352035.2	37	c.296	CCDS11412.1	17	.	.	.	.	.	.	.	.	.	.	G	5.944	0.358174	0.11239	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000393896	T;T;T	0.63096	-0.02;-0.02;-0.02	5.77	-7.23	0.01480	ATP-grasp fold, subdomain 2 (1);ATP-grasp fold, succinyl-CoA synthetase-type (1);	0.281899	0.43919	N	0.000510	T	0.22898	0.0553	N	0.02765	-0.5	0.21020	N	0.99981	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.40289	-0.9571	10	0.06625	T	0.88	.	7.9469	0.29991	0.0:0.244:0.2922:0.4638	.	153;153;99;99	B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;ACLY_HUMAN	K	99;153;99;99	ENSP00000253792:T99K;ENSP00000345398:T99K;ENSP00000377474:T99K	ENSP00000253792:T99K	T	-	2	0	ACLY	37320050	0.600000	0.26899	0.650000	0.29550	0.964000	0.63967	0.355000	0.20163	-1.393000	0.02079	-0.976000	0.02587	ACA	ACLY	-	pfam_ATP-grasp_succ-CoA_synth-type,pirsf_ATP-citrate_synthase	ENSG00000131473		0.582	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	-	0.00	53	0	G	NM_001096		40066524	-1	tier1	-	no_errors	ENST00000352035	ensembl	human	known	74_37	missense	11.36	39	5	SNP	0.833	T
ACSL5	51703	genome.wustl.edu	37	10	114181709	114181709	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:114181709C>T	ENST00000393081.1	+	16	1699	c.1392C>T	c.(1390-1392)caC>caT	p.H464H	RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000369410.3_Silent_p.H246H|ACSL5_ENST00000354655.4_Silent_p.H464H|ACSL5_ENST00000356116.1_Silent_p.H520H|ACSL5_ENST00000354273.4_Silent_p.H464H|ACSL5_ENST00000433418.1_Silent_p.H464H	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	464					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TTCTAGGTCACGTTGGGGTGC	0.443																																																	0													134.0	131.0	132.0					10																	114181709		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.1392C>T	10.37:g.114181709C>T			A6GV77|D3DRB3|Q6UX44|Q9UIU4	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.H520	ENST00000393081.1	37	c.1560	CCDS7573.1	10																																																																																			ACSL5	-	pfam_AMP-dep_Synth/Lig	ENSG00000197142		0.443	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSL5	HGNC	protein_coding	OTTHUMT00000050386.1	-	0.00	51	0	C	NM_016234		114181709	+1	tier1	-	no_errors	ENST00000356116	ensembl	human	known	74_37	silent	33.33	28	14	SNP	0.893	T
ACTB	60	genome.wustl.edu	37	7	5567138	5567138	+	3'UTR	DEL	A	A	-	rs372590587		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:5567138delA	ENST00000331789.5	-	0	1560				AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta						adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AATGACTATTAAAAAAACAAC	0.473																																																	0																																										SO:0001624	3_prime_UTR_variant	0			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.*241T>-	7.37:g.5567138delA			A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	RNA	DEL	-	NULL	ENST00000331789.5	37	NULL	CCDS5341.1	7																																																																																			ACTB	-	-	ENSG00000075624		0.473	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	HGNC	protein_coding	OTTHUMT00000059589.4		0.00	56	0	A	NM_001101		5567138	-1	tier1		no_errors	ENST00000464611	ensembl	human	known	74_37	rna	35.59	38	21	DEL	1.000	-
ACVR1B	91	genome.wustl.edu	37	12	52374794	52374794	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:52374794G>A	ENST00000257963.4	+	4	699	c.622G>A	c.(622-624)Gtt>Att	p.V208I	ACVR1B_ENST00000426655.2_Missense_Mutation_p.V208I|ACVR1B_ENST00000541224.1_Missense_Mutation_p.V208I|ACVR1B_ENST00000415850.2_Missense_Mutation_p.V208I|ACVR1B_ENST00000542485.1_Missense_Mutation_p.V156I	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CCGAACCATCGTTTTACAAGA	0.483											OREG0021829	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													73.0	72.0	72.0					12																	52374794		2203	4300	6503	SO:0001583	missense	0				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.622G>A	12.37:g.52374794G>A	ENSP00000257963:p.Val208Ile	984	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V208I	ENST00000257963.4	37	c.622	CCDS8816.1	12	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658628	0.47467	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2	4.94	4.94	0.65067	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85353	0.5677	N	0.11313	0.125	0.80722	D	1	B;B;B;B	0.31503	0.326;0.054;0.027;0.052	B;B;B;B	0.18871	0.023;0.021;0.007;0.022	D	0.83654	0.0157	10	0.32370	T	0.25	.	18.5621	0.91104	0.0:0.0:1.0:0.0	.	208;208;208;208	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	I	208;208;208;208;156	ENSP00000257963:V208I;ENSP00000442656:V208I;ENSP00000390477:V208I;ENSP00000397550:V208I;ENSP00000442885:V156I	ENSP00000257963:V208I	V	+	1	0	ACVR1B	50661061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.460000	0.83146	0.650000	0.86243	GTT	ACVR1B	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000135503		0.483	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1B	HGNC	protein_coding	OTTHUMT00000397000.1	-	0.00	71	0	G	NM_020328		52374794	+1	tier1	-	no_errors	ENST00000257963	ensembl	human	known	74_37	missense	33.33	38	19	SNP	1.000	A
ACTR6	64431	genome.wustl.edu	37	12	100598718	100598718	+	Splice_Site	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:100598718G>A	ENST00000188312.2	+	2	834	c.69G>A	c.(67-69)tcG>tcA	p.S23S	ACTR6_ENST00000552376.1_Splice_Site_p.S23S|ACTR6_ENST00000551617.1_5'UTR|ACTR6_ENST00000546902.1_5'UTR|ACTR6_ENST00000550813.1_3'UTR	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	23						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TTGTTTCTAGGGTTATTCCTA	0.348																																																	0													78.0	80.0	79.0					12																	100598718		2202	4300	6502	SO:0001630	splice_region_variant	0			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.69-1G>A	12.37:g.100598718G>A			B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Silent	SNP	pfam_Actin-related,smart_Actin-related	p.S23	ENST00000188312.2	37	c.69	CCDS9074.1	12																																																																																			ACTR6	-	pfam_Actin-related,smart_Actin-related	ENSG00000075089		0.348	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR6	HGNC	protein_coding	OTTHUMT00000408159.1	-	0.00	77	0	G	NM_022496	Silent	100598718	+1	tier1	-	no_errors	ENST00000188312	ensembl	human	known	74_37	silent	37.68	43	26	SNP	0.998	A
ACVR2A	92	genome.wustl.edu	37	2	148683686	148683686	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:148683686delA	ENST00000241416.7	+	10	1939	c.1303delA	c.(1303-1305)aaafs	p.K437fs	ACVR2A_ENST00000404590.1_Frame_Shift_Del_p.K437fs|ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000535787.1_Frame_Shift_Del_p.K329fs	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	437	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.K437fs*5(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGTTGTGCATAAAAAAAAGAG	0.368																																																	3	Deletion - Frameshift(3)	large_intestine(2)|ovary(1)											156.0	129.0	138.0					2																	148683686		2203	4299	6502	SO:0001589	frameshift_variant	0				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.1303delA	2.37:g.148683686delA	ENSP00000241416:p.Lys437fs		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor	p.K437fs	ENST00000241416.7	37	c.1303	CCDS33301.1	2																																																																																			ACVR2A	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000121989		0.368	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1		0.00	79	0	A	NM_001616		148683686	+1	tier1		no_errors	ENST00000241416	ensembl	human	known	74_37	frame_shift_del	66.29	30	59	DEL	1.000	-
ACVR1C	130399	genome.wustl.edu	37	2	158412733	158412733	+	Missense_Mutation	SNP	C	C	T	rs201171210		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:158412733C>T	ENST00000243349.8	-	3	776	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	ACVR1C_ENST00000335450.7_Intron|ACVR1C_ENST00000409680.3_Missense_Mutation_p.R89Q|ACVR1C_ENST00000348328.5_Intron	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GGAGCACTGTCGACCCTGGCA	0.483																																																	0								C	GLN/ARG,,,GLN/ARG	0,4406		0,0,2203	103.0	86.0	92.0		266,,,416	4.9	0.0	2		92	1,8599	1.2+/-3.3	0,1,4299	yes	missense,intron,intron,missense	ACVR1C	NM_001111031.1,NM_001111032.1,NM_001111033.1,NM_145259.2	43,,,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,,,possibly-damaging	89/444,,,139/494	158412733	1,13005	2203	4300	6503	SO:0001583	missense	0			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.416G>A	2.37:g.158412733C>T	ENSP00000243349:p.Arg139Gln			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R139Q	ENST00000243349.8	37	c.416	CCDS2205.1	2	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251121	0.39797	0.0	1.16E-4	ENSG00000123612	ENST00000243349;ENST00000409680	D;D	0.89123	-2.47;-2.36	5.73	4.86	0.63082	.	0.000000	0.46758	D	0.000272	D	0.87042	0.6079	M	0.65498	2.005	0.80722	D	1	B	0.24258	0.1	B	0.22880	0.042	D	0.84305	0.0507	10	0.49607	T	0.09	.	11.7815	0.52018	0.0:0.8566:0.0:0.1434	.	139	Q8NER5	ACV1C_HUMAN	Q	139;89	ENSP00000243349:R139Q;ENSP00000387168:R89Q	ENSP00000243349:R139Q	R	-	2	0	ACVR1C	158120979	0.863000	0.29885	0.024000	0.17045	0.379000	0.30106	1.632000	0.37102	1.429000	0.47314	0.650000	0.86243	CGA	ACVR1C	-	NULL	ENSG00000123612		0.483	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1C	HGNC	protein_coding	OTTHUMT00000254924.2	-	0.00	52	0	C	NM_145259		158412733	-1	tier1	rs201171210	no_errors	ENST00000243349	ensembl	human	known	74_37	missense	48.48	34	32	SNP	0.901	T
ACY1	95	genome.wustl.edu	37	3	52021444	52021444	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:52021444delG	ENST00000404366.2	+	11	973	c.827delG	c.(826-828)cgtfs	p.R276fs	ACY1_ENST00000476351.1_Frame_Shift_Del_p.R241fs|ACY1_ENST00000476854.1_Intron|ACY1_ENST00000494103.1_Frame_Shift_Del_p.R204fs|ACY1_ENST00000458031.2_Frame_Shift_Del_p.R366fs|ABHD14A-ACY1_ENST00000463937.1_Frame_Shift_Del_p.R377fs	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	276					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	TTTGACTTCCGTGTGGCACCG	0.582																																																	0													60.0	52.0	55.0					3																	52021444		2203	4300	6503	SO:0001589	frameshift_variant	0			L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.827delG	3.37:g.52021444delG	ENSP00000384296:p.Arg276fs		C9J6I6|C9J9D8|C9JWD4	Frame_Shift_Del	DEL	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase	p.R366fs	ENST00000404366.2	37	c.1097	CCDS2844.1	3																																																																																			ACY1	-	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase	ENSG00000243989		0.582	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACY1	HGNC	protein_coding	OTTHUMT00000349657.1		0.00	47	0	G	NM_000666		52021444	+1	tier1		no_errors	ENST00000458031	ensembl	human	known	74_37	frame_shift_del	51.72	14	15	DEL	0.999	-
ADAD1	132612	genome.wustl.edu	37	4	123333870	123333870	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:123333870A>G	ENST00000296513.2	+	10	1340	c.1155A>G	c.(1153-1155)tcA>tcG	p.S385S	ADAD1_ENST00000388725.2_Silent_p.S367S|ADAD1_ENST00000388724.2_Silent_p.S374S	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	385	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTATGTCCTCAAGTGACAAAT	0.408																																																	0													237.0	223.0	228.0					4																	123333870		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1155A>G	4.37:g.123333870A>G			A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Silent	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.S385	ENST00000296513.2	37	c.1155	CCDS34058.1	4																																																																																			ADAD1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000164113		0.408	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	-	0.00	45	0	A	NM_139243		123333870	+1	tier1	-	no_errors	ENST00000296513	ensembl	human	known	74_37	silent	43.40	30	23	SNP	0.965	G
ADAD1	132612	genome.wustl.edu	37	4	123342478	123342478	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:123342478G>A	ENST00000296513.2	+	12	1735	c.1550G>A	c.(1549-1551)cGg>cAg	p.R517Q	ADAD1_ENST00000388725.2_Missense_Mutation_p.R499Q|ADAD1_ENST00000388724.2_Missense_Mutation_p.R506Q	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	517	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATGTTAAGTCGGTTTAACCTG	0.343																																																	0													89.0	90.0	89.0					4																	123342478		2203	4300	6503	SO:0001583	missense	0			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1550G>A	4.37:g.123342478G>A	ENSP00000296513:p.Arg517Gln		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin	p.R517Q	ENST00000296513.2	37	c.1550	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927113	0.92389	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.94046	-3.34;-3.34;-3.34	4.93	4.93	0.64822	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.96377	0.8818	M	0.79343	2.45	0.58432	D	0.999998	D;D	0.89917	0.971;1.0	P;D	0.97110	0.669;1.0	D	0.95318	0.8418	10	0.27785	T	0.31	-10.5143	17.7553	0.88446	0.0:0.0:1.0:0.0	.	506;517	Q96M93-2;Q96M93	.;ADAD1_HUMAN	Q	517;506;499	ENSP00000296513:R517Q;ENSP00000373376:R506Q;ENSP00000373377:R499Q	ENSP00000296513:R517Q	R	+	2	0	ADAD1	123561928	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.885000	0.87282	2.277000	0.76020	0.650000	0.86243	CGG	ADAD1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000164113		0.343	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	-	0.00	49	0	G	NM_139243		123342478	+1	tier1	-	no_errors	ENST00000296513	ensembl	human	known	74_37	missense	26.83	30	11	SNP	1.000	A
ADAM15	8751	genome.wustl.edu	37	1	155032745	155032745	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:155032745T>C	ENST00000356955.2	+	18	2234	c.2133T>C	c.(2131-2133)ctT>ctC	p.L711L	ADAM15_ENST00000368410.2_Silent_p.L417L|ADAM15_ENST00000271836.6_Silent_p.L711L|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Silent_p.L721L|ADAM15_ENST00000359280.4_Silent_p.L711L|ADAM15_ENST00000368413.1_Silent_p.L417L|ADAM15_ENST00000449910.2_Silent_p.L711L|ADAM15_ENST00000355956.2_Silent_p.L711L|ADAM15_ENST00000360674.4_Silent_p.L711L|ADAM15_ENST00000368412.3_Silent_p.L711L	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	711					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGTGATGCTTGGTGCCAGCT	0.617																																																	0													63.0	56.0	58.0					1																	155032745		2203	4300	6503	SO:0001819	synonymous_variant	0			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.2133T>C	1.37:g.155032745T>C			B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Silent	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.L711	ENST00000356955.2	37	c.2133	CCDS1087.1	1																																																																																			ADAM15	-	NULL	ENSG00000143537		0.617	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	-	0.00	36	0	T	NM_003815		155032745	+1	tier1	-	no_errors	ENST00000356955	ensembl	human	known	74_37	silent	32.50	27	13	SNP	1.000	C
ADAM22	53616	genome.wustl.edu	37	7	87762205	87762205	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:87762205G>A	ENST00000265727.7	+	12	1095	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	ADAM22_ENST00000398201.4_Missense_Mutation_p.R339Q|ADAM22_ENST00000315984.7_Missense_Mutation_p.R339Q|ADAM22_ENST00000398209.3_Missense_Mutation_p.R339Q|ADAM22_ENST00000398204.4_Missense_Mutation_p.R339Q			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	339	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAGAGTAGCCGGAGCGGGGCA	0.418																																																	0													153.0	158.0	157.0					7																	87762205		2003	4184	6187	SO:0001583	missense	0			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1016G>A	7.37:g.87762205G>A	ENSP00000265727:p.Arg339Gln		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R339Q	ENST00000265727.7	37	c.1016	CCDS47637.1	7	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750889	0.89753	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3	5.11	5.11	0.69529	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.281111	0.37053	N	0.002265	T	0.33644	0.0870	M	0.63843	1.955	0.53688	D	0.999972	D;D;D;P	0.60575	0.988;0.985;0.988;0.902	P;P;P;B	0.53912	0.737;0.619;0.737;0.392	T	0.05616	-1.0874	10	0.54805	T	0.06	.	18.5529	0.91072	0.0:0.0:1.0:0.0	.	391;339;339;339	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	Q	339;339;339;339;339;306	ENSP00000381262:R339Q;ENSP00000381260:R339Q;ENSP00000265727:R339Q;ENSP00000315900:R339Q;ENSP00000381267:R339Q;ENSP00000381261:R306Q	ENSP00000265727:R339Q	R	+	2	0	ADAM22	87600141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.832000	0.92079	2.376000	0.81061	0.655000	0.94253	CGG	ADAM22	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000008277		0.418	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2	-	0.00	171	0	G	NM_021723		87762205	+1	tier1	-	no_errors	ENST00000265727	ensembl	human	known	74_37	missense	35.77	88	49	SNP	1.000	A
ADAM23	8745	genome.wustl.edu	37	2	207460861	207460861	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:207460861delC	ENST00000264377.3	+	24	2662	c.2334delC	c.(2332-2334)cacfs	p.H778fs	ADAM23_ENST00000374416.1_Frame_Shift_Del_p.H778fs|ADAM23_ENST00000374415.3_Frame_Shift_Del_p.H778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GGAACCTTCACCCCCCCAAGG	0.453																																					Melanoma(194;1127 2130 19620 24042 27855)												2	Insertion - Frameshift(2)	ovary(2)											92.0	75.0	81.0					2																	207460861		2203	4300	6503	SO:0001589	frameshift_variant	0			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2334delC	2.37:g.207460861delC	ENSP00000264377:p.His778fs		A2RU59	Frame_Shift_Del	DEL	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.K781fs	ENST00000264377.3	37	c.2334	CCDS2369.1	2																																																																																			ADAM23	-	NULL	ENSG00000114948		0.453	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2		0.00	74	0	C	NM_003812		207460861	+1	tier1		no_errors	ENST00000264377	ensembl	human	known	74_37	frame_shift_del	67.80	19	40	DEL	0.000	-
ADAM32	203102	genome.wustl.edu	37	8	39068767	39068767	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:39068767delA	ENST00000379907.4	+	12	1284	c.1157delA	c.(1156-1158)caafs	p.Q386fs	ADAM32_ENST00000437682.2_Intron|ADAM32_ENST00000519315.1_Intron	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	386						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CCACAAATGCAAAAAAAATCT	0.383																																																	0										30,3484		11,8,1738	72.0	68.0	69.0			3.2	1.0	8		71	64,7768		27,10,3879	no	frameshift	ADAM32	NM_145004.5		38,18,5617	A1A1,A1R,RR		0.8172,0.8537,0.8285			39068767	94,11252	1818	4085	5903	SO:0001589	frameshift_variant	0			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1157delA	8.37:g.39068767delA	ENSP00000369238:p.Gln386fs		Q8TC42	Frame_Shift_Del	DEL	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.K388fs	ENST00000379907.4	37	c.1157	CCDS47846.1	8																																																																																			ADAM32	-	NULL	ENSG00000197140		0.383	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	HGNC	protein_coding	OTTHUMT00000377089.1		0.00	40	0	A	NM_145004		39068767	+1	tier1		no_errors	ENST00000379907	ensembl	human	known	74_37	frame_shift_del	28.57	35	14	DEL	0.517	-
ADAMDEC1	27299	genome.wustl.edu	37	8	24257805	24257805	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:24257805G>T	ENST00000256412.4	+	11	1354	c.1134G>T	c.(1132-1134)caG>caT	p.Q378H	ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.Q299H|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.Q299H|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	378	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TGATGAATCAGTATCTGAGGT	0.388																																					Ovarian(147;687 1849 3699 25981 31337)												0													135.0	110.0	118.0					8																	24257805		2203	4300	6503	SO:0001583	missense	0			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.1134G>T	8.37:g.24257805G>T	ENSP00000256412:p.Gln378His		B7ZAK5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.Q378H	ENST00000256412.4	37	c.1134	CCDS6044.1	8	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780045	0.49891	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.63744	-0.06;-0.06;-0.06	5.48	-10.2	0.00374	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.199189	0.35555	N	0.003130	T	0.60405	0.2266	L	0.57536	1.79	0.21445	N	0.999685	B	0.31054	0.306	B	0.41036	0.346	T	0.54377	-0.8303	10	0.46703	T	0.11	-6.2273	21.5419	0.99956	0.218:0.0:0.782:0.0	.	378	O15204	ADEC1_HUMAN	H	378;299;299	ENSP00000256412:Q378H;ENSP00000442592:Q299H;ENSP00000428993:Q299H	ENSP00000256412:Q378H	Q	+	3	2	ADAMDEC1	24313750	0.002000	0.14202	0.217000	0.23759	0.823000	0.46562	-0.748000	0.04818	-2.377000	0.00597	-0.781000	0.03364	CAG	ADAMDEC1	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000134028		0.388	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMDEC1	HGNC	protein_coding	OTTHUMT00000215149.2	-	0.00	53	0	G	NM_014479		24257805	+1	tier1	-	no_errors	ENST00000256412	ensembl	human	known	74_37	missense	5.32	89	5	SNP	0.145	T
ADAM7	8756	genome.wustl.edu	37	8	24342860	24342860	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:24342860A>T	ENST00000175238.6	+	10	1029	c.946A>T	c.(946-948)Acc>Tcc	p.T316S	ADAM7_ENST00000380789.1_Missense_Mutation_p.T316S|ADAM7_ENST00000520720.1_Missense_Mutation_p.T88S|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	316	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CTATTATTCCACCAGTATCAT	0.363																																																	0													126.0	122.0	123.0					8																	24342860		2203	4300	6503	SO:0001583	missense	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.946A>T	8.37:g.24342860A>T	ENSP00000175238:p.Thr316Ser		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.T316S	ENST00000175238.6	37	c.946	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	A	1.447	-0.566146	0.03910	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	T;T;T	0.29917	1.55;1.55;1.55	5.44	1.33	0.21861	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.670270	0.13815	N	0.360801	T	0.12178	0.0296	N	0.10707	0.03	0.20074	N	0.999937	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.003	T	0.32824	-0.9892	10	0.13853	T	0.58	.	5.0863	0.14684	0.3274:0.0:0.1642:0.5084	.	88;316	E5RK87;Q9H2U9	.;ADAM7_HUMAN	S	316;316;88;131	ENSP00000175238:T316S;ENSP00000370166:T316S;ENSP00000430400:T88S	ENSP00000175238:T316S	T	+	1	0	ADAM7	24398750	0.026000	0.19158	0.965000	0.40720	0.291000	0.27294	0.003000	0.13083	0.342000	0.23796	-0.319000	0.08680	ACC	ADAM7	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000069206		0.363	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	-	0.00	58	0	A	NM_003817		24342860	+1	tier1	-	no_errors	ENST00000175238	ensembl	human	known	74_37	missense	28.75	57	23	SNP	0.992	T
ADAM7	8756	genome.wustl.edu	37	8	24359015	24359015	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:24359015G>T	ENST00000175238.6	+	20	2217	c.2134G>T	c.(2134-2136)Gag>Tag	p.E712*	ADAM7_ENST00000380789.1_Nonsense_Mutation_p.E712*|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Nonsense_Mutation_p.E484*|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	712						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CCTGGGAGTGGAGAACAAAGG	0.383																																																	0													92.0	94.0	93.0					8																	24359015		2203	4300	6503	SO:0001587	stop_gained	0			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.2134G>T	8.37:g.24359015G>T	ENSP00000175238:p.Glu712*		A8K8X7|O75959|Q6PEJ6	Nonsense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.E712*	ENST00000175238.6	37	c.2134	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	G	37	6.216723	0.97385	.	.	ENSG00000069206	ENST00000175238;ENST00000380789;ENST00000520720;ENST00000335595	.	.	.	4.37	4.37	0.52481	.	0.130157	0.34484	N	0.003924	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	12.6066	0.56527	0.0:0.0:1.0:0.0	.	.	.	.	X	712;712;484;527	.	ENSP00000175238:E712X	E	+	1	0	ADAM7	24414905	1.000000	0.71417	0.996000	0.52242	0.576000	0.36127	4.046000	0.57376	2.438000	0.82558	0.563000	0.77884	GAG	ADAM7	-	NULL	ENSG00000069206		0.383	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	-	0.00	78	0	G	NM_003817		24359015	+1	tier1	-	no_errors	ENST00000175238	ensembl	human	known	74_37	nonsense	6.40	117	8	SNP	0.995	T
ADAM32	203102	genome.wustl.edu	37	8	39114763	39114763	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:39114763T>A	ENST00000379907.4	+	19	2190	c.2063T>A	c.(2062-2064)cTc>cAc	p.L688H	ADAM32_ENST00000437682.2_Missense_Mutation_p.L589H|ADAM32_ENST00000519315.1_Missense_Mutation_p.L582H	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	688						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTAGGTTTCCTCATTGCTCTT	0.373																																																	0													105.0	107.0	107.0					8																	39114763		1821	4086	5907	SO:0001583	missense	0			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.2063T>A	8.37:g.39114763T>A	ENSP00000369238:p.Leu688His		Q8TC42	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.L688H	ENST00000379907.4	37	c.2063	CCDS47846.1	8	.	.	.	.	.	.	.	.	.	.	T	7.647	0.682026	0.14907	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.87809	-2.3;-2.3;-2.3	4.39	-0.895	0.10560	.	0.968910	0.08356	N	0.958394	T	0.76212	0.3956	L	0.45352	1.415	0.09310	N	1	B;B;P;B	0.34780	0.022;0.125;0.468;0.041	B;B;B;B	0.28784	0.027;0.015;0.094;0.078	T	0.63695	-0.6579	10	0.42905	T	0.14	.	1.0174	0.01510	0.4195:0.1704:0.0933:0.3168	.	589;112;582;688	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	H	589;582;688	ENSP00000405978:L589H;ENSP00000429422:L582H;ENSP00000369238:L688H	ENSP00000369238:L688H	L	+	2	0	ADAM32	39233920	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	-0.113000	0.10774	-0.108000	0.12066	-2.162000	0.00326	CTC	ADAM32	-	NULL	ENSG00000197140		0.373	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	HGNC	protein_coding	OTTHUMT00000377089.1	-	0.00	28	0	T	NM_145004		39114763	+1	tier1	-	no_errors	ENST00000379907	ensembl	human	known	74_37	missense	30.61	34	15	SNP	0.001	A
ADAMTS16	170690	genome.wustl.edu	37	5	5140806	5140806	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:5140806G>A	ENST00000274181.7	+	2	240	c.102G>A	c.(100-102)gcG>gcA	p.A34A	CTD-2297D10.2_ENST00000512155.1_RNA|ADAMTS16_ENST00000511368.1_Silent_p.A34A|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	34					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GACCCGCAGCGGCAGCGCCTG	0.731																																																	0																																										SO:0001819	synonymous_variant	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.102G>A	5.37:g.5140806G>A			C6G490|Q8IVE2	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.A34	ENST00000274181.7	37	c.102	CCDS43299.1	5																																																																																			ADAMTS16	-	NULL	ENSG00000145536		0.731	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	-	0.00	43	0	G	NM_139056		5140806	+1	tier1	-	no_errors	ENST00000274181	ensembl	human	known	74_37	silent	14.08	61	10	SNP	0.208	A
ADAMTS7	11173	genome.wustl.edu	37	15	79058838	79058838	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:79058838G>T	ENST00000388820.4	-	19	3625	c.3415C>A	c.(3415-3417)Cgc>Agc	p.R1139S	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1139					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGTGGGGAGCGGCCGGCCTGG	0.672																																																	0													4.0	6.0	5.0					15																	79058838		1858	3845	5703	SO:0001583	missense	0			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3415C>A	15.37:g.79058838G>T	ENSP00000373472:p.Arg1139Ser		Q14F51|Q6P7J9	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1139S	ENST00000388820.4	37	c.3415	CCDS32303.1	15	.	.	.	.	.	.	.	.	.	.	g	5.289	0.238731	0.10023	.	.	ENSG00000136378	ENST00000388820	T	0.58940	0.3	4.21	-1.79	0.07932	.	2.056800	0.01816	N	0.033737	T	0.34774	0.0909	N	0.14661	0.345	0.09310	N	1	B	0.15473	0.013	B	0.12837	0.008	T	0.12811	-1.0533	10	0.08837	T	0.75	.	4.2452	0.10669	0.3626:0.0:0.4888:0.1486	.	1139	Q9UKP4	ATS7_HUMAN	S	1139	ENSP00000373472:R1139S	ENSP00000373472:R1139S	R	-	1	0	ADAMTS7	76845893	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.833000	0.04396	-0.649000	0.05430	0.574000	0.79327	CGC	ADAMTS7	-	NULL	ENSG00000136378		0.672	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS7	HGNC	protein_coding	OTTHUMT00000421331.1	-	0.00	50	0	G	NM_014272		79058838	-1	tier1	-	no_errors	ENST00000388820	ensembl	human	known	74_37	missense	36.67	19	11	SNP	0.000	T
ADAMTS8	11095	genome.wustl.edu	37	11	130281317	130281317	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:130281317delG	ENST00000257359.6	-	6	2451	c.1745delC	c.(1744-1746)cctfs	p.P582fs		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	582					negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D583fs*1(1)|p.P583fs*61(1)|p.P582fs*61(1)|p.P611fs*61(1)|p.D584fs*1(1)|p.D612fs*1(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATTACCGTCAGGGGGGCATTC	0.572																																																	6	Deletion - Frameshift(3)|Insertion - Frameshift(3)	large_intestine(3)|lung(3)											62.0	66.0	64.0					11																	130281317		1978	4127	6105	SO:0001589	frameshift_variant	0			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1745delC	11.37:g.130281317delG	ENSP00000257359:p.Pro582fs		Q9NZS0	Frame_Shift_Del	DEL	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS	p.P582fs	ENST00000257359.6	37	c.1745	CCDS41732.1	11																																																																																			ADAMTS8	-	NULL	ENSG00000134917		0.572	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS8	HGNC	protein_coding	OTTHUMT00000385636.1		0.00	63	0	G	NM_007037		130281317	-1	tier1		no_errors	ENST00000257359	ensembl	human	known	74_37	frame_shift_del	31.58	26	12	DEL	0.014	-
ADAMTS9	56999	genome.wustl.edu	37	3	64672616	64672616	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:64672616G>A	ENST00000498707.1	-	2	486	c.144C>T	c.(142-144)taC>taT	p.Y48Y	ADAMTS9-AS2_ENST00000460833.1_RNA|ADAMTS9_ENST00000459780.1_Silent_p.Y48Y|ADAMTS9-AS2_ENST00000485174.1_RNA|ADAMTS9-AS2_ENST00000481312.1_RNA|ADAMTS9_ENST00000295903.4_Silent_p.Y48Y|ADAMTS9-AS2_ENST00000474768.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	48					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACACGATTTCGTATTCGCTCA	0.453																																																	0													81.0	76.0	78.0					3																	64672616		2203	4300	6503	SO:0001819	synonymous_variant	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.144C>T	3.37:g.64672616G>A			A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Y48	ENST00000498707.1	37	c.144	CCDS2903.1	3																																																																																			ADAMTS9	-	pfam_Peptidase_M12B_N	ENSG00000163638		0.453	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	-	0.00	74	0	G			64672616	-1	tier1	-	no_errors	ENST00000498707	ensembl	human	known	74_37	silent	29.51	43	18	SNP	1.000	A
ADAMTSL1	92949	genome.wustl.edu	37	9	18680349	18680350	+	Frame_Shift_Ins	INS	-	-	G	rs199787607		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:18680349_18680350insG	ENST00000380548.4	+	11	1515_1516	c.1176_1177insG	c.(1177-1179)gggfs	p.G393fs	ADAMTSL1_ENST00000380566.4_Frame_Shift_Ins_p.G376fs|ADAMTSL1_ENST00000327883.7_Frame_Shift_Ins_p.G393fs|ADAMTSL1_ENST00000276935.6_Frame_Shift_Ins_p.G393fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	393	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTCCTCGTGTGGGGGGGGCAT	0.584																																																	0									,	29,4235		0,29,2103					,	6.2	1.0			48	21,8233		0,21,4106	no	frameshift,frameshift	ADAMTSL1	NM_052866.4,NM_001040272.5	,	0,50,6209	A1A1,A1R,RR		0.2544,0.6801,0.3994	,	,		50,12468				SO:0001589	frameshift_variant	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1184dupG	9.37:g.18680357_18680357dupG	ENSP00000369921:p.Gly393fs		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Frame_Shift_Ins	INS	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt	p.I395fs	ENST00000380548.4	37	c.1176_1177	CCDS47954.1	9																																																																																			ADAMTSL1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000178031		0.584	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1		0.00	45	0	-			18680350	+1	tier1		no_errors	ENST00000327883	ensembl	human	known	74_37	frame_shift_ins	38.46	24	15	INS	1.000:1.000	G
ADAMTSL1	92949	genome.wustl.edu	37	9	18776908	18776908	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:18776908C>T	ENST00000380548.4	+	19	3020	c.2681C>T	c.(2680-2682)gCg>gTg	p.A894V		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	894	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCAAGACGGCGGTGGTGCTG	0.682																																																	0													19.0	24.0	23.0					9																	18776908		2034	4173	6207	SO:0001583	missense	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2681C>T	9.37:g.18776908C>T	ENSP00000369921:p.Ala894Val		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.A894V	ENST00000380548.4	37	c.2681	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	C	10.92	1.488058	0.26686	.	.	ENSG00000178031	ENST00000380548	T	0.13778	2.56	5.48	4.57	0.56435	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	25.668500	0.04526	U	0.385529	T	0.13457	0.0326	N	0.16098	0.37	0.80722	D	1	B	0.26120	0.142	B	0.25140	0.058	T	0.08310	-1.0728	10	0.48119	T	0.1	.	16.2499	0.82478	0.0:0.867:0.133:0.0	.	894	Q8N6G6	ATL1_HUMAN	V	894	ENSP00000369921:A894V	ENSP00000369921:A894V	A	+	2	0	ADAMTSL1	18766908	0.445000	0.25657	0.002000	0.10522	0.038000	0.13279	4.755000	0.62198	1.287000	0.44583	-0.302000	0.09304	GCG	ADAMTSL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000178031		0.682	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	-	0.00	55	0	C			18776908	+1	tier1	-	no_errors	ENST00000380548	ensembl	human	novel	74_37	missense	42.86	32	24	SNP	0.137	T
ADAMTSL4	54507	genome.wustl.edu	37	1	150524368	150524369	+	Intron	DEL	AA	AA	-	rs199813152		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:150524368_150524369delAA	ENST00000271643.4	+	3	152				ADAMTSL4_ENST00000369038.2_5'Flank|ADAMTSL4_ENST00000483335.1_3'UTR|ADAMTSL4_ENST00000369039.5_Intron|MIR4257_ENST00000581735.1_RNA|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Intron	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4						apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			tctccatctcaaaaaaaaaaaa	0.53																																																	0																																										SO:0001627	intron_variant	0			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000271643.4:c.-84-312AA>-	1.37:g.150524378_150524379delAA			B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	RNA	DEL	-	NULL	ENST00000271643.4	37	NULL	CCDS955.1	1																																																																																			ADAMTSL4	-	-	ENSG00000143382		0.530	ADAMTSL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding			0.00	14	0	AA	NM_019032		150524369	+1	tier1		no_errors	ENST00000483335	ensembl	human	known	74_37	rna	20.00	20	5	DEL	0.000:0.000	-
ADAMTSL4	54507	genome.wustl.edu	37	1	150530505	150530506	+	Frame_Shift_Ins	INS	-	-	G	rs149280379		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:150530505_150530506insG	ENST00000369038.2	+	12	2463_2464	c.2262_2263insG	c.(2263-2265)gggfs	p.G755fs	ADAMTSL4_ENST00000271643.4_Frame_Shift_Ins_p.G755fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Ins_p.G778fs|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Frame_Shift_Ins_p.G755fs			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	755	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)	p.F754L(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGCAGGAATTTGGGGGGGGTGG	0.693																																																	1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2270dupG	1.37:g.150530513_150530513dupG	ENSP00000358034:p.Gly755fs		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Frame_Shift_Ins	INS	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.G780fs	ENST00000369038.2	37	c.2331_2332	CCDS955.1	1																																																																																			ADAMTSL4	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000143382		0.693	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding	OTTHUMT00000084395.4		0.00	81	0	-	NM_019032		150530506	+1	tier1		no_errors	ENST00000369039	ensembl	human	known	74_37	frame_shift_ins	14.77	75	13	INS	1.000:1.000	G
ADARB2	105	genome.wustl.edu	37	10	1569024	1569024	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:1569024G>A	ENST00000381312.1	-	2	426				ADARB2-AS1_ENST00000381301.3_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)						mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CACTTGGTGCGTGGAGGGGTC	0.607																																																	0													45.0	47.0	46.0					10																	1569024		2045	4208	6253	SO:0001627	intron_variant	0			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.101-147669C>T	10.37:g.1569024G>A			B2RPJ5|Q5VUT6|Q5VW42	RNA	SNP	-	NULL	ENST00000381312.1	37	NULL	CCDS7058.1	10																																																																																			ADARB2-AS1	-	-	ENSG00000205696		0.607	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2-AS1	HGNC	protein_coding	OTTHUMT00000046426.1	-	0.00	32	0	G	NM_018702		1569024	+1	tier1	-	no_errors	ENST00000381301	ensembl	human	known	74_37	rna	38.10	26	16	SNP	0.000	A
ADARB2	105	genome.wustl.edu	37	10	1577031	1577031	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:1577031G>A	ENST00000381312.1	-	2	426				ADARB2-AS1_ENST00000381301.3_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)						mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GGTGAGAGAGGGCGGCACTCC	0.542																																																	0																																										SO:0001627	intron_variant	0			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.101-155676C>T	10.37:g.1577031G>A			B2RPJ5|Q5VUT6|Q5VW42	RNA	SNP	-	NULL	ENST00000381312.1	37	NULL	CCDS7058.1	10																																																																																			ADARB2-AS1	-	-	ENSG00000205696		0.542	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2-AS1	HGNC	protein_coding	OTTHUMT00000046426.1	-	0.00	32	0	G	NM_018702		1577031	+1	tier1	-	no_errors	ENST00000381301	ensembl	human	known	74_37	rna	28.00	36	14	SNP	0.003	A
ADCK3	56997	genome.wustl.edu	37	1	227171736	227171736	+	Intron	DEL	G	G	-	rs375918113|rs149374145|rs201300405		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:227171736delG	ENST00000366779.1	+	16	4027				ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000366777.3_Intron|ADCK3_ENST00000366778.1_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3						cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GGGTGTGTGTGGGGGGGGGGA	0.677																																																	0																																										SO:0001627	intron_variant	0			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1257-59G>-	1.37:g.227171736delG			Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	RNA	DEL	-	NULL	ENST00000366779.1	37	NULL	CCDS1557.1	1																																																																																			ADCK3	-	-	ENSG00000163050		0.677	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADCK3	HGNC	protein_coding	OTTHUMT00000091712.1		0.00	42	0	G	NM_020247		227171736	+1	tier1		no_errors	ENST00000478406	ensembl	human	known	74_37	rna	21.15	41	11	DEL	0.000	-
ADCY2	108	genome.wustl.edu	37	5	7695879	7695879	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:7695879A>G	ENST00000338316.4	+	6	973	c.884A>G	c.(883-885)gAc>gGc	p.D295G	ADCY2_ENST00000537121.1_Missense_Mutation_p.D115G	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	295					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTATACGCTGACATCGTTGGC	0.408																																																	0													92.0	83.0	86.0					5																	7695879		2203	4300	6503	SO:0001583	missense	0			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.884A>G	5.37:g.7695879A>G	ENSP00000342952:p.Asp295Gly		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.D295G	ENST00000338316.4	37	c.884	CCDS3872.2	5	.	.	.	.	.	.	.	.	.	.	A	19.31	3.802797	0.70682	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000515681;ENST00000537121	D;D;D	0.90676	-2.71;-2.71;-2.71	5.51	5.51	0.81932	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.95462	0.8526	M	0.83012	2.62	0.58432	D	0.999996	D;P	0.89917	1.0;0.917	D;P	0.77004	0.989;0.828	D	0.96047	0.9028	10	0.87932	D	0	.	15.9211	0.79575	1.0:0.0:0.0:0.0	.	115;295	B7Z2C1;Q08462	.;ADCY2_HUMAN	G	295;146;84;115	ENSP00000342952:D295G;ENSP00000425069:D84G;ENSP00000444803:D115G	ENSP00000342952:D295G	D	+	2	0	ADCY2	7748879	1.000000	0.71417	0.990000	0.47175	0.176000	0.22953	8.882000	0.92420	2.210000	0.71456	0.533000	0.62120	GAC	ADCY2	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000078295		0.408	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	-	0.00	32	0	A	NM_020546		7695879	+1	tier1	-	no_errors	ENST00000338316	ensembl	human	known	74_37	missense	25.37	50	17	SNP	1.000	G
ADCY5	111	genome.wustl.edu	37	3	123010123	123010123	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:123010123C>T	ENST00000462833.1	-	18	4376	c.3164G>A	c.(3163-3165)cGc>cAc	p.R1055H	ADCY5_ENST00000491190.1_Missense_Mutation_p.R713H|ADCY5_ENST00000309879.5_Missense_Mutation_p.R705H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1055					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.R1055H(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCGCCGCTCGCGGGCCAGGAA	0.602																																																	1	Substitution - Missense(1)	ovary(1)											84.0	71.0	76.0					3																	123010123		2203	4300	6503	SO:0001583	missense	0			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3164G>A	3.37:g.123010123C>T	ENSP00000419361:p.Arg1055His		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R1055H	ENST00000462833.1	37	c.3164	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837652	0.91117	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;D;D	0.81996	-1.14;-1.54;-1.56	4.53	4.53	0.55603	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.076544	0.53938	D	0.000055	D	0.84719	0.5534	M	0.71871	2.18	0.58432	D	0.999999	P;D	0.56035	0.602;0.974	B;P	0.51918	0.042;0.684	D	0.85312	0.1079	10	0.56958	D	0.05	.	8.6843	0.34227	0.0:0.8609:0.0:0.1391	.	1055;713	O95622;B3KWA8	ADCY5_HUMAN;.	H	1055;713;705	ENSP00000419361:R1055H;ENSP00000418537:R713H;ENSP00000308685:R705H	ENSP00000308685:R705H	R	-	2	0	ADCY5	124492813	0.993000	0.37304	0.992000	0.48379	0.962000	0.63368	3.012000	0.49575	2.362000	0.80069	0.563000	0.77884	CGC	ADCY5	-	smart_A/G_cyclase	ENSG00000173175		0.602	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	-	0.00	67	0	C	XM_171048		123010123	-1	tier1	-	no_errors	ENST00000462833	ensembl	human	known	74_37	missense	30.51	41	18	SNP	1.000	T
ADCY6	112	genome.wustl.edu	37	12	49168286	49168286	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:49168286G>A	ENST00000307885.4	-	13	2876	c.2182C>T	c.(2182-2184)Ctg>Ttg	p.L728L	MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000550422.1_Silent_p.L728L|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000357869.3_Silent_p.L728L	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	728					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AGACGTTGCAGGGCCTTAGGG	0.547																																																	0													95.0	82.0	87.0					12																	49168286		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2182C>T	12.37:g.49168286G>A			Q9NR75|Q9UDB0	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L728	ENST00000307885.4	37	c.2182	CCDS8767.1	12																																																																																			ADCY6	-	NULL	ENSG00000174233		0.547	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY6	HGNC	protein_coding	OTTHUMT00000408863.1		0.00	30	0	G	NM_020983		49168286	-1			no_errors	ENST00000307885	ensembl	human	known	74_37	silent	5.41	35	2	SNP	1.000	A
ADCY9	115	genome.wustl.edu	37	16	4016810	4016810	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:4016810C>T	ENST00000294016.3	-	11	3566	c.3028G>A	c.(3028-3030)Gga>Aga	p.G1010R		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1010					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCCACGTCTCCGTGGTAGTGG	0.572																																																	0													118.0	110.0	113.0					16																	4016810		2197	4300	6497	SO:0001583	missense	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.3028G>A	16.37:g.4016810C>T	ENSP00000294016:p.Gly1010Arg		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G1010R	ENST00000294016.3	37	c.3028	CCDS32382.1	16	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430981	0.83776	.	.	ENSG00000162104	ENST00000294016	D	0.83250	-1.7	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88776	0.3267	10	0.39692	T	0.17	.	19.8013	0.96509	0.0:1.0:0.0:0.0	.	1010	O60503	ADCY9_HUMAN	R	1010	ENSP00000294016:G1010R	ENSP00000294016:G1010R	G	-	1	0	ADCY9	3956811	1.000000	0.71417	0.984000	0.44739	0.839000	0.47603	7.776000	0.85560	2.761000	0.94854	0.591000	0.81541	GGA	ADCY9	-	NULL	ENSG00000162104		0.572	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	-	0.00	46	0	C			4016810	-1	tier1	-	no_errors	ENST00000294016	ensembl	human	known	74_37	missense	50.00	18	18	SNP	1.000	T
ADCY9	115	genome.wustl.edu	37	16	4039070	4039070	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:4039070C>T	ENST00000294016.3	-	6	2773	c.2235G>A	c.(2233-2235)ccG>ccA	p.P745P	ADCY9_ENST00000571889.1_5'Flank	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	745					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GATTAATGGGCGGCTTAAAAA	0.443																																																	0													112.0	105.0	107.0					16																	4039070		2197	4300	6497	SO:0001819	synonymous_variant	0			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2235G>A	16.37:g.4039070C>T			A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.P745	ENST00000294016.3	37	c.2235	CCDS32382.1	16																																																																																			ADCY9	-	NULL	ENSG00000162104		0.443	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	-	0.00	45	0	C			4039070	-1	tier1	-	no_errors	ENST00000294016	ensembl	human	known	74_37	silent	52.94	16	18	SNP	0.443	T
ADH7	131	genome.wustl.edu	37	4	100334325	100334325	+	Silent	SNP	G	G	T	rs533257508		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:100334325G>T	ENST00000209665.4	-	9	1381	c.1141C>A	c.(1141-1143)Cga>Aga	p.R381R	ADH7_ENST00000437033.2_Silent_p.R369R|ADH7_ENST00000476959.1_Silent_p.R389R|ADH7_ENST00000482593.1_Silent_p.R312R	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	381					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		AGGACCGTTCGAATGCTGAAA	0.373																																																	0													142.0	134.0	137.0					4																	100334325		2203	4300	6503	SO:0001819	synonymous_variant	0			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.1141C>A	4.37:g.100334325G>T			A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Silent	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.R381	ENST00000209665.4	37	c.1141	CCDS34034.1	4																																																																																			ADH7	-	superfamily_GroES-like	ENSG00000196344		0.373	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	HGNC	protein_coding			0.00	55	0	G	NM_000673		100334325	-1			no_errors	ENST00000209665	ensembl	human	known	74_37	silent	6.38	44	3	SNP	0.078	T
ADM	133	genome.wustl.edu	37	11	10328153	10328154	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:10328153_10328154insC	ENST00000528655.1	+	3	1140_1141	c.523_524insC	c.(523-525)gccfs	p.A175fs	ADM_ENST00000534464.1_Frame_Shift_Ins_p.A128fs|ADM_ENST00000530439.1_Frame_Shift_Ins_p.A107fs|ADM_ENST00000525063.1_Frame_Shift_Ins_p.A175fs|RP11-351I24.1_ENST00000526906.1_RNA|ADM_ENST00000278175.5_Frame_Shift_Ins_p.A175fs			P35318	ADML_HUMAN	adrenomedullin	175					aging (GO:0007568)|androgen metabolic process (GO:0008209)|blood circulation (GO:0008015)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cAMP biosynthetic process (GO:0006171)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|developmental growth (GO:0048589)|female pregnancy (GO:0007565)|G-protein coupled receptor internalization (GO:0002031)|heart development (GO:0007507)|hormone secretion (GO:0046879)|negative regulation of cell proliferation (GO:0008285)|negative regulation of vascular permeability (GO:0043116)|negative regulation of vasoconstriction (GO:0045906)|neural tube closure (GO:0001843)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of vasculogenesis (GO:2001214)|positive regulation of vasodilation (GO:0045909)|progesterone biosynthetic process (GO:0006701)|receptor internalization (GO:0031623)|regulation of the force of heart contraction (GO:0002026)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|spongiotrophoblast layer development (GO:0060712)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor binding (GO:0005102)	p.S178fs*>9(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		CGGGGCTCCAGCCCCCCCGAGT	0.678																																																	1	Insertion - Frameshift(1)	large_intestine(1)								15,4077		0,15,2031						0.2	0.0			19	17,7905		0,17,3944	no	frameshift	ADM	NM_001124.1		0,32,5975	A1A1,A1R,RR		0.2146,0.3666,0.2664				32,11982				SO:0001589	frameshift_variant	0			D14874	CCDS7801.1	11p15.4	2013-02-25			ENSG00000148926	ENSG00000148926		"""Endogenous ligands"""	259	protein-coding gene	gene with protein product		103275				7688224	Standard	NM_001124		Approved	AM	uc001mil.1	P35318	OTTHUMG00000165907	ENST00000528655.1:c.530dupC	11.37:g.10328160_10328160dupC	ENSP00000436607:p.Ala175fs		B2R793|D3DQV3|Q6FGW2	Frame_Shift_Ins	INS	pfam_Procalcitonin/adrenomedullin,prints_Adrenomedullin	p.S178fs	ENST00000528655.1	37	c.523_524	CCDS7801.1	11																																																																																			ADM	-	prints_Adrenomedullin	ENSG00000148926		0.678	ADM-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADM	HGNC	protein_coding	OTTHUMT00000387008.1		0.00	44	0	-	NM_001124		10328154	+1	tier1		no_errors	ENST00000278175	ensembl	human	known	74_37	frame_shift_ins	15.79	32	6	INS	0.000:0.000	C
ADORA3	140	genome.wustl.edu	37	1	112045780	112045780	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:112045780A>G	ENST00000241356.4	-	1	602	c.197T>C	c.(196-198)aTg>aCg	p.M66T	ADORA3_ENST00000486342.1_5'Flank|ADORA3_ENST00000369716.4_Missense_Mutation_p.M66T|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	66					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	GGCCAAAGGCATGACCAGCAC	0.517																																																	0													108.0	79.0	89.0					1																	112045780		2203	4300	6503	SO:0001583	missense	0			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.197T>C	1.37:g.112045780A>G	ENSP00000241356:p.Met66Thr		A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn	p.M66T	ENST00000241356.4	37	c.197	CCDS839.1	1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.153974	0.38021	.	.	ENSG00000121933	ENST00000369716;ENST00000241356	T;T	0.73469	-0.75;-0.75	5.56	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.118294	0.36303	N	0.002679	T	0.59702	0.2213	M	0.72353	2.195	0.34489	D	0.704711	B;B	0.22003	0.063;0.058	B;B	0.20577	0.026;0.03	T	0.61811	-0.6986	10	0.66056	D	0.02	-12.469	11.4613	0.50213	0.9274:0.0:0.0726:0.0	.	66;66	P33765;P33765-2	AA3R_HUMAN;.	T	66	ENSP00000358730:M66T;ENSP00000241356:M66T	ENSP00000241356:M66T	M	-	2	0	ADORA3	111847303	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.156000	0.77453	0.888000	0.36160	0.459000	0.35465	ATG	ADORA3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000121933		0.517	ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	ADORA3	HGNC	protein_coding	OTTHUMT00000033065.1	-	0.00	72	0	A	NM_000677, NM_020683		112045780	-1	tier1	-	no_errors	ENST00000369716	ensembl	human	known	74_37	missense	33.33	40	20	SNP	1.000	G
ADRB1	153	genome.wustl.edu	37	10	115804315	115804315	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:115804315G>A	ENST00000369295.2	+	1	510	c.424G>A	c.(424-426)Gtg>Atg	p.V142M		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	142					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	CGTGCTGTGCGTGACGGCCAG	0.677																																																	0													98.0	111.0	107.0					10																	115804315		2203	4300	6503	SO:0001583	missense	0			J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"""GPCR / Class A : Adrenoceptors : beta"""	285	protein-coding gene	gene with protein product		109630	"""adrenergic, beta-1-, receptor"""	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.424G>A	10.37:g.115804315G>A	ENSP00000358301:p.Val142Met		B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB1_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_5HT6_rcpt	p.V142M	ENST00000369295.2	37	c.424	CCDS7586.1	10	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852865	0.71719	.	.	ENSG00000043591	ENST00000369295	T	0.16743	2.32	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000003	T	0.41511	0.1162	M	0.73372	2.23	0.48901	D	0.999729	D	0.89917	1.0	D	0.87578	0.998	T	0.44605	-0.9317	10	0.62326	D	0.03	.	15.9365	0.79712	0.0:0.0:1.0:0.0	.	142	P08588	ADRB1_HUMAN	M	142	ENSP00000358301:V142M	ENSP00000358301:V142M	V	+	1	0	ADRB1	115794305	1.000000	0.71417	0.988000	0.46212	0.924000	0.55760	9.664000	0.98607	1.734000	0.51633	0.449000	0.29647	GTG	ADRB1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000043591		0.677	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRB1	HGNC	protein_coding	OTTHUMT00000050448.1	-	0.00	121	0	G			115804315	+1	tier1	-	no_errors	ENST00000369295	ensembl	human	known	74_37	missense	39.24	48	31	SNP	1.000	A
ADRBK1	156	genome.wustl.edu	37	11	67051342	67051342	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:67051342delC	ENST00000308595.5	+	17	1703	c.1413delC	c.(1411-1413)atcfs	p.I471fs	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	471	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCCCGCTGATCCCCCCACGAG	0.632																																																	0													30.0	32.0	31.0					11																	67051342		2197	4294	6491	SO:0001589	frameshift_variant	0			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1413delC	11.37:g.67051342delC	ENSP00000312262:p.Ile471fs		B0ZBE1|Q13837|Q6GTT3	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.P473fs	ENST00000308595.5	37	c.1413	CCDS8156.1	11																																																																																			ADRBK1	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C,prints_GPCR_kinase	ENSG00000173020		0.632	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	HGNC	protein_coding	OTTHUMT00000393153.1		0.00	25	0	C	NM_001619		67051342	+1	tier1		no_errors	ENST00000308595	ensembl	human	known	74_37	frame_shift_del	31.82	15	7	DEL	1.000	-
ADTRP	84830	genome.wustl.edu	37	6	11714640	11714642	+	3'UTR	DEL	AAA	AAA	-	rs554078469|rs560744440	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:11714640_11714642delAAA	ENST00000414691.3	-	0	1172_1174				ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000229583.5_3'UTR	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CCTCCACCAGAAAAAAAAAAAAA	0.394																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"""androgen-induced 1-like"""	614348	"""chromosome 6 open reading frame 105"""	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.*71TTT>-	6.37:g.11714649_11714651delAAA			B2R7T9|B4DV39|Q5THW1	RNA	DEL	-	NULL	ENST00000414691.3	37	NULL	CCDS4521.1	6																																																																																			ADTRP	-	-	ENSG00000111863		0.394	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADTRP	HGNC	protein_coding	OTTHUMT00000039864.3		0.00	52	0	AAA	NM_032744		11714642	-1	tier1		no_errors	ENST00000512139	ensembl	human	known	74_37	rna	55.56	16	20	DEL	0.000:0.000:0.001	-
AFAP1	60312	genome.wustl.edu	37	4	7870447	7870447	+	Splice_Site	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:7870447C>A	ENST00000360265.4	-	2	362		c.e2-1		AFAP1_ENST00000382543.3_Splice_Site|AFAP1_ENST00000420658.1_Splice_Site|AFAP1_ENST00000358461.2_Splice_Site			Q8N556	AFAP1_HUMAN	actin filament associated protein 1							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						ACATCAAAACCTGTAAGAATT	0.532																																																	0													49.0	45.0	47.0					4																	7870447		2203	4300	6503	SO:0001630	splice_region_variant	0			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.128-1G>T	4.37:g.7870447C>A			A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Splice_Site	SNP	-	e2-1	ENST00000360265.4	37	c.128-1	CCDS3397.1	4	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381583	0.42207	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5872	0.91194	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AFAP1	7921347	1.000000	0.71417	0.930000	0.37139	0.396000	0.30629	4.712000	0.61888	2.467000	0.83353	0.561000	0.74099	.	AFAP1	-	-	ENSG00000196526		0.532	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1	HGNC	protein_coding	OTTHUMT00000246842.2	-	0.00	23	0	C	NM_021638	Intron	7870447	-1	tier1	-	no_errors	ENST00000420658	ensembl	human	known	74_37	splice_site	42.86	12	9	SNP	1.000	A
AFMID	125061	genome.wustl.edu	37	17	76200772	76200772	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:76200772C>T	ENST00000327898.5	+	5	353	c.344C>T	c.(343-345)aCg>aTg	p.T115M	AFMID_ENST00000409257.5_Missense_Mutation_p.T115M|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000589664.1_Intron					arylformamidase									p.T115M(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CACCCGCTGACGGCACAGGGA	0.592																																																	1	Substitution - Missense(1)	large_intestine(1)											97.0	69.0	78.0					17																	76200772		2203	4300	6503	SO:0001583	missense	0			BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.344C>T	17.37:g.76200772C>T	ENSP00000328938:p.Thr115Met			Missense_Mutation	SNP	pfam_AB_hydrolase_3	p.T115M	ENST00000327898.5	37	c.344	CCDS45801.1	17	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251235	0.39797	.	.	ENSG00000183077	ENST00000409257;ENST00000327898	T;T	0.11821	2.74;2.74	4.89	4.89	0.63831	Alpha/beta hydrolase fold-3 (1);	0.275715	0.35179	N	0.003387	T	0.32255	0.0823	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65773	0.938;0.897	T	0.03807	-1.1002	10	0.62326	D	0.03	-22.9163	7.4995	0.27509	0.0:0.8539:0.0:0.1461	.	115;115	Q63HM1;Q63HM1-2	AFMID_HUMAN;.	M	115	ENSP00000386890:T115M;ENSP00000328938:T115M	ENSP00000328938:T115M	T	+	2	0	AFMID	73712367	0.999000	0.42202	0.892000	0.35008	0.071000	0.16799	3.755000	0.55197	2.521000	0.84997	0.655000	0.94253	ACG	AFMID	-	pfam_AB_hydrolase_3	ENSG00000183077		0.592	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFMID	HGNC	protein_coding	OTTHUMT00000333203.1	-	0.00	98	0	C	XM_058889		76200772	+1	tier1	-	no_errors	ENST00000327898	ensembl	human	known	74_37	missense	32.43	49	24	SNP	0.988	T
AGAP3	116988	genome.wustl.edu	37	7	150840884	150840884	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:150840884C>T	ENST00000463381.1	+	16	2093	c.1597C>T	c.(1597-1599)Cgg>Tgg	p.R533W	AGAP3_ENST00000397238.2_Missense_Mutation_p.R864W	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	828	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ATATGCTCGCCGGGCCGGCAG	0.627																																																	0													43.0	48.0	47.0					7																	150840884		1949	4141	6090	SO:0001583	missense	0			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1597C>T	7.37:g.150840884C>T	ENSP00000418016:p.Arg533Trp		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.R864W	ENST00000463381.1	37	c.2590		7	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174861	0.78564	.	.	ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	T;T	0.67345	-0.26;-0.26	5.46	5.46	0.80206	Ankyrin repeat-containing domain (4);	0.134329	0.49305	D	0.000149	T	0.75547	0.3864	L	0.37507	1.11	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;1.0;0.999	D;D;D;D	0.70716	0.93;0.97;0.963;0.91	T	0.77466	-0.2577	10	0.66056	D	0.02	.	18.2979	0.90153	0.0:1.0:0.0:0.0	.	828;363;864;533	Q96P47;E7ETI2;Q96P47-4;B3KNZ8	AGAP3_HUMAN;.;.;.	W	533;363;864;828	ENSP00000418016:R533W;ENSP00000380413:R864W	ENSP00000334157:R828W	R	+	1	2	AGAP3	150471817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.888000	0.69758	2.541000	0.85698	0.655000	0.94253	CGG	AGAP3	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000133612		0.627	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	AGAP3	HGNC	protein_coding	OTTHUMT00000351909.2	-	0.00	61	0	C	NM_031946		150840884	+1	tier1	-	no_errors	ENST00000397238	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
AGBL1	123624	genome.wustl.edu	37	15	86810253	86810253	+	Missense_Mutation	SNP	G	G	A	rs373676885		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:86810253G>A	ENST00000441037.2	+	12	1741	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	AGBL1_ENST00000389298.3_Missense_Mutation_p.R280Q|AGBL1_ENST00000421325.2_Missense_Mutation_p.R549Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	549					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AATTGTTTACGGTTCTTCTCC	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		20987	0.0		0.0	False		,,,				2504	0.001																0								G	GLN/ARG	1,3805		0,1,1902	92.0	83.0	86.0		1646	-3.0	0.0	15		86	1,8229		0,1,4114	no	missense	AGBL1	NM_152336.2	43	0,2,6016	AA,AG,GG		0.0122,0.0263,0.0166	benign	549/1067	86810253	2,12034	1903	4115	6018	SO:0001583	missense	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1646G>A	15.37:g.86810253G>A	ENSP00000413001:p.Arg549Gln		A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.R549Q	ENST00000441037.2	37	c.1646	CCDS58398.1	15	.	.	.	.	.	.	.	.	.	.	G	9.878	1.200834	0.22121	2.63E-4	1.22E-4	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.30182	1.54;1.54	5.32	-3.0	0.05480	Armadillo-type fold (1);	0.492618	0.20773	N	0.085947	T	0.12305	0.0299	N	0.17474	0.49	0.09310	N	1	B;B;B	0.20052	0.041;0.041;0.016	B;B;B	0.15484	0.013;0.006;0.002	T	0.12319	-1.0552	10	0.26408	T	0.33	-4.9418	3.5665	0.07901	0.3945:0.1081:0.3973:0.1001	.	248;280;549	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	Q	578;549;280	ENSP00000397173:R549Q;ENSP00000373949:R280Q	ENSP00000373949:R280Q	R	+	2	0	AGBL1	84611257	0.092000	0.21681	0.019000	0.16419	0.035000	0.12851	0.082000	0.14847	-0.349000	0.08274	-1.170000	0.01741	CGG	AGBL1	-	superfamily_ARM-type_fold	ENSG00000166748		0.403	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	-	0.00	41	0	G	NM_152336		86810253	+1	tier1	-	no_errors	ENST00000441037	ensembl	human	known	74_37	missense	31.58	26	12	SNP	0.253	A
AGBL4	84871	genome.wustl.edu	37	1	49119009	49119009	+	Splice_Site	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:49119009C>A	ENST00000371839.1	-	8	955	c.839G>T	c.(838-840)aGg>aTg	p.R280M	AGBL4_ENST00000334103.7_Splice_Site_p.R13M|AGBL4_ENST00000371838.1_Splice_Site_p.R280M	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	280					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		AATTCCTTACCTGTAATTGCC	0.438																																																	0													44.0	42.0	43.0					1																	49119009		1868	4103	5971	SO:0001630	splice_region_variant	0			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.839+1G>T	1.37:g.49119009C>A			B3KT26|B4DG37	Missense_Mutation	SNP	pfam_Peptidase_M14,smart_Peptidase_M14	p.R280M	ENST00000371839.1	37	c.839	CCDS44137.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.5|26.5	4.739097|4.739097	0.89573|0.89573	.|.	.|.	ENSG00000186094|ENSG00000186094	ENST00000416121;ENST00000432500|ENST00000371839;ENST00000411952;ENST00000334103;ENST00000371838	.|T;T;T	.|0.25579	.|1.79;1.79;1.79	5.84|5.84	5.84|5.84	0.93424|0.93424	.|Peptidase M14, carboxypeptidase A (1);	.|0.038312	.|0.85682	.|D	.|0.000000	T|T	0.66944|0.66944	0.2841|0.2841	H|H	0.95917|0.95917	3.74|3.74	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.995;0.989;0.995;0.999;1.0	T|T	0.77504|0.77504	-0.2563|-0.2563	5|9	.|.	.|.	.|.	-30.0653|-30.0653	19.1272|19.1272	0.93390|0.93390	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|95;292;13;125;280	.|A0AVJ2;Q5VU57-2;B4DGK1;B1AMW2;Q5VU57	.|.;.;.;.;CBPC6_HUMAN	C|M	126;69|280;274;13;280	.|ENSP00000360905:R280M;ENSP00000335516:R13M;ENSP00000360904:R280M	.|.	G|R	-|-	1|2	0|0	AGBL4|AGBL4	48891596|48891596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.810000|0.810000	0.45777|0.45777	7.487000|7.487000	0.81328|0.81328	2.764000|2.764000	0.94973|0.94973	0.655000|0.655000	0.94253|0.94253	GGT|AGG	AGBL4	-	pfam_Peptidase_M14,smart_Peptidase_M14	ENSG00000186094		0.438	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL4	HGNC	protein_coding	OTTHUMT00000021346.4	-	0.00	77	0	C	NM_032785	Missense_Mutation	49119009	-1	tier1	-	no_errors	ENST00000371839	ensembl	human	known	74_37	missense	29.27	58	24	SNP	1.000	A
AGO4	192670	genome.wustl.edu	37	1	36316704	36316704	+	Intron	DEL	A	A	-	rs148523368	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:36316704delA	ENST00000373210.3	+	17	2722				AGO4_ENST00000488778.1_3'UTR	NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										GTAGCATGTTAAAAAAAATGA	0.323																																																	0													19.0	18.0	18.0					1																	36316704		2175	4252	6427	SO:0001627	intron_variant	0			AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.2477+50A>-	1.37:g.36316704delA			A7MD27	RNA	DEL	-	NULL	ENST00000373210.3	37	NULL	CCDS397.1	1																																																																																			AGO4	-	-	ENSG00000134698		0.323	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGO4	HGNC	protein_coding	OTTHUMT00000012213.3		0.00	16	0	A	NM_017629		36316704	+1	tier1		no_errors	ENST00000488778	ensembl	human	known	74_37	rna	23.33	23	7	DEL	0.117	-
AGL	178	genome.wustl.edu	37	1	100380976	100380976	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:100380976G>T	ENST00000294724.4	+	31	4671	c.4193G>T	c.(4192-4194)tGg>tTg	p.W1398L	AGL_ENST00000361302.3_Missense_Mutation_p.W1382L|AGL_ENST00000370163.3_Missense_Mutation_p.W1398L|AGL_ENST00000370161.2_Missense_Mutation_p.W1382L|AGL_ENST00000361915.3_Missense_Mutation_p.W1398L|AGL_ENST00000361522.4_Missense_Mutation_p.W1381L|AGL_ENST00000370165.3_Missense_Mutation_p.W1398L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1398				W -> G (in Ref. 1; AAB41040, 2; AAB48466/ AAB48467/AAB48468/AAB48469/AAB48470 and 3). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GAAAAAGCATGGAAAGCTTTG	0.348																																																	0			GRCh37	CM021484	AGL	M							79.0	84.0	82.0					1																	100380976		2203	4300	6503	SO:0001583	missense	0			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.4193G>T	1.37:g.100380976G>T	ENSP00000294724:p.Trp1398Leu		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	p.W1398L	ENST00000294724.4	37	c.4193	CCDS759.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.110111	0.94292	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.77	5.77	0.91146	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	L	0.39467	1.215	0.80722	D	1	P;P;P	0.50617	0.839;0.839;0.937	P;P;P	0.59643	0.615;0.615;0.861	T	0.58200	-0.7678	10	0.18710	T	0.47	.	19.9883	0.97356	0.0:0.0:1.0:0.0	.	1381;1382;1398	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	L	1398;1398;1398;1398;1382;1382;1381	ENSP00000355106:W1398L;ENSP00000359184:W1398L;ENSP00000359182:W1398L;ENSP00000294724:W1398L;ENSP00000354971:W1382L;ENSP00000359180:W1382L;ENSP00000354635:W1381L	ENSP00000294724:W1398L	W	+	2	0	AGL	100153564	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.334000	0.96470	2.722000	0.93159	0.555000	0.69702	TGG	AGL	-	pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met	ENSG00000162688		0.348	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1	-	0.00	38	0	G	NM_000028		100380976	+1	tier1	-	no_errors	ENST00000294724	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T
AGPAT9	84803	genome.wustl.edu	37	4	84519291	84519291	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:84519291A>G	ENST00000395226.2	+	11	1302	c.1084A>G	c.(1084-1086)Atc>Gtc	p.I362V	AGPAT9_ENST00000264409.4_Missense_Mutation_p.I362V	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	362					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CAGCTGGGCCATCGTCTGTGA	0.453																																																	0													124.0	110.0	114.0					4																	84519291		2203	4300	6503	SO:0001583	missense	0			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.1084A>G	4.37:g.84519291A>G	ENSP00000378651:p.Ile362Val		Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.I362V	ENST00000395226.2	37	c.1084	CCDS3606.1	4	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518628	0.44763	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.46451	0.87;0.87	5.62	5.62	0.85841	.	0.098626	0.64402	D	0.000002	T	0.35595	0.0937	L	0.52905	1.665	0.58432	D	0.999998	B	0.32918	0.39	B	0.31290	0.127	T	0.13335	-1.0513	10	0.14252	T	0.57	-24.4403	11.7833	0.52028	0.8533:0.1466:0.0:0.0	.	362	Q53EU6	GPAT3_HUMAN	V	362	ENSP00000378651:I362V;ENSP00000264409:I362V	ENSP00000264409:I362V	I	+	1	0	AGPAT9	84738315	1.000000	0.71417	0.938000	0.37757	0.896000	0.52359	4.080000	0.57620	2.133000	0.65898	0.455000	0.32223	ATC	AGPAT9	-	NULL	ENSG00000138678		0.453	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT9	HGNC	protein_coding	OTTHUMT00000252821.3	-	0.00	80	0	A	NM_032717		84519291	+1	tier1	-	no_errors	ENST00000264409	ensembl	human	known	74_37	missense	51.81	40	43	SNP	1.000	G
AHCTF1	25909	genome.wustl.edu	37	1	247003631	247003631	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:247003631delA	ENST00000391829.2	-	0	7401				AHCTF1_ENST00000366508.1_3'UTR|AHCTF1_ENST00000326225.3_3'UTR|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1						cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGCCAAAAACAAAAAAATACA	0.264																																					Colon(145;197 1800 4745 15099 26333)												0																																										SO:0001624	3_prime_UTR_variant	0				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.*477T>-	1.37:g.247003631delA			A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	RNA	DEL	-	NULL	ENST00000391829.2	37	NULL		1																																																																																			AHCTF1	-	-	ENSG00000153207		0.264	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding			0.00	32	0	A	NM_015446		247003631	-1	tier1		no_errors	ENST00000470300	ensembl	human	known	74_37	rna	18.97	47	11	DEL	0.000	-
AIM1L	55057	genome.wustl.edu	37	1	26648510	26648510	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:26648510C>A	ENST00000308182.5	-	19	2229	c.1800G>T	c.(1798-1800)tgG>tgT	p.W600C	AIM1L_ENST00000527815.1_Missense_Mutation_p.W771C			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	600	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.						carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CATCCGGCTCCCATAGCACCA	0.582																																																	0													74.0	65.0	68.0					1																	26648510		2203	4300	6503	SO:0001583	missense	0					1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.1800G>T	1.37:g.26648510C>A	ENSP00000310435:p.Trp600Cys		B2RNG3|Q5T137|Q5T150	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.W771C	ENST00000308182.5	37	c.2313		1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712435	0.48517	.	.	ENSG00000176092	ENST00000527815;ENST00000308182	T;T	0.52754	0.65;0.65	5.29	5.29	0.74685	Ricin B-related lectin (1);Ricin B lectin (3);	0.162064	0.56097	D	0.000028	T	0.39226	0.1070	L	0.31294	0.92	0.80722	D	1	B	0.18461	0.028	B	0.19666	0.026	T	0.22277	-1.0221	10	0.54805	T	0.06	.	15.3485	0.74363	0.14:0.86:0.0:0.0	.	600	Q8N1P7	AIM1L_HUMAN	C	771;600	ENSP00000433931:W771C;ENSP00000310435:W600C	ENSP00000310435:W600C	W	-	3	0	AIM1L	26521097	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.565000	0.60836	2.479000	0.83701	0.561000	0.74099	TGG	AIM1L	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000176092		0.582	AIM1L-201	KNOWN	basic	protein_coding	AIM1L	HGNC	protein_coding		-	0.00	61	0	C	NM_001039775.2		26648510	-1	tier1	-	no_errors	ENST00000527815	ensembl	human	known	74_37	missense	42.86	36	27	SNP	1.000	A
AK9	221264	genome.wustl.edu	37	6	109814612	109814612	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:109814612G>C	ENST00000424296.2	-	41	5772	c.5696C>G	c.(5695-5697)aCc>aGc	p.T1899S	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1899					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										AGAGAGAAAGGTCTTTAACTT	0.388																																																	0													195.0	195.0	195.0					6																	109814612		2203	4300	6503	SO:0001583	missense	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5696C>G	6.37:g.109814612G>C	ENSP00000410186:p.Thr1899Ser		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T1899S	ENST00000424296.2	37	c.5696	CCDS55048.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	5.862|5.862|5.862	0.343218|0.343218|0.343218	0.11069|0.11069|0.11069	.|.|.	.|.|.	ENSG00000155085|ENSG00000155085|ENSG00000155085	ENST00000490722|ENST00000470564|ENST00000424296	.|.|T	.|.|0.64260	.|.|-0.09	5.58|5.58|5.58	2.83|2.83|2.83	0.33086|0.33086|0.33086	.|.|.	.|.|0.414174	.|.|0.27420	.|.|N	.|.|0.019452	T|T|T	0.22781|0.22781|0.22781	0.0550|0.0550|0.0550	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B;B	.|.|0.15473	.|.|0.007;0.013	.|.|B;B	.|.|0.13407	.|.|0.007;0.009	T|T|T	0.05920|0.05920|0.05920	-1.0856|-1.0856|-1.0856	5|5|9	.|.|.	.|.|.	.|.|.	.|.|.	8.8166|8.8166|8.8166	0.35000|0.35000|0.35000	0.1354:0.1244:0.7401:0.0|0.1354:0.1244:0.7401:0.0|0.1354:0.1244:0.7401:0.0	.|.|.	.|.|284;1899	.|.|B7ZL24;Q5TCS8	.|.|.;AKD1_HUMAN	E|A|S	299|737|1899	.|.|ENSP00000410186:T1899S	.|.|.	D|P|T	-|-|-	3|1|2	2|0|0	AKD1|AKD1|AKD1	109921305|109921305|109921305	0.998000|0.998000|0.998000	0.40836|0.40836|0.40836	0.964000|0.964000|0.964000	0.40570|0.40570|0.40570	0.531000|0.531000|0.531000	0.34715|0.34715|0.34715	1.937000|1.937000|1.937000	0.40193|0.40193|0.40193	0.309000|0.309000|0.309000	0.22966|0.22966|0.22966	-1.054000|-1.054000|-1.054000	0.02325|0.02325|0.02325	GAC|CCT|ACC	AK9	-	NULL	ENSG00000155085		0.388	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AK9	HGNC	protein_coding		-	0.00	74	0	G	NM_001145128		109814612	-1	tier1	-	no_errors	ENST00000424296	ensembl	human	known	74_37	missense	43.18	50	38	SNP	0.985	C
AKAP9	10142	genome.wustl.edu	37	7	91603085	91603085	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:91603085delA	ENST00000359028.2	+	3	370	c.145delA	c.(145-147)aaafs	p.K51fs	AKAP9_ENST00000358100.2_Frame_Shift_Del_p.K51fs|AKAP9_ENST00000394564.1_Frame_Shift_Del_p.K39fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.K39fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	51					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.K39fs*17(1)|p.K51fs*17(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAAGAAGCAGAAAAAAAAGAG	0.353			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Deletion - Frameshift(2)	large_intestine(2)																																								SO:0001589	frameshift_variant	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.145delA	7.37:g.91603085delA	ENSP00000351922:p.Lys51fs		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Frame_Shift_Del	DEL	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.K51fs	ENST00000359028.2	37	c.145		7																																																																																			AKAP9	-	NULL	ENSG00000127914		0.353	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding			0.00	24	0	A	NM_005751		91603085	+1	tier1		no_errors	ENST00000359028	ensembl	human	known	74_37	frame_shift_del	18.52	22	5	DEL	1.000	-
AKAP9	10142	genome.wustl.edu	37	7	91695843	91695843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:91695843G>T	ENST00000359028.2	+	27	6574	c.6349G>T	c.(6349-6351)Gaa>Taa	p.E2117*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.E2117*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.E2105*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2117	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCCTATCAGTGAACATCAAAC	0.358			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													92.0	87.0	89.0					7																	91695843		2203	4300	6503	SO:0001587	stop_gained	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.6349G>T	7.37:g.91695843G>T	ENSP00000351922:p.Glu2117*		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Nonsense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB	p.E2117*	ENST00000359028.2	37	c.6349		7	.	.	.	.	.	.	.	.	.	.	G	49	15.014504	0.99819	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	.	.	.	5.37	5.37	0.77165	.	0.000000	0.38897	N	0.001524	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	19.4679	0.94950	0.0:0.0:1.0:0.0	.	.	.	.	X	2105;2117;2117;2117	.	ENSP00000348573:E2105X	E	+	1	0	AKAP9	91533779	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	8.731000	0.91529	2.671000	0.90904	0.585000	0.79938	GAA	AKAP9	-	NULL	ENSG00000127914		0.358	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		-	0.00	21	0	G	NM_005751		91695843	+1	tier1	-	no_errors	ENST00000359028	ensembl	human	known	74_37	nonsense	17.39	19	4	SNP	1.000	T
AKNA	80709	genome.wustl.edu	37	9	117129899	117129899	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:117129899C>T	ENST00000307564.4	-	6	1813	c.1652G>A	c.(1651-1653)cGg>cAg	p.R551Q	AKNA_ENST00000312033.3_Missense_Mutation_p.R551Q|AKNA_ENST00000374075.5_Missense_Mutation_p.R470Q|AKNA_ENST00000223791.3_Missense_Mutation_p.R11Q|AKNA_ENST00000374088.3_Missense_Mutation_p.R551Q	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	551					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGAGATGTCCCGGTTCTCCGG	0.612																																																	0													50.0	50.0	50.0					9																	117129899		2203	4300	6503	SO:0001583	missense	0			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1652G>A	9.37:g.117129899C>T	ENSP00000303769:p.Arg551Gln		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.R551Q	ENST00000307564.4	37	c.1652	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	C	3.980	-0.006680	0.07773	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000223791;ENST00000374075;ENST00000312033	T;T;T;T;T	0.27890	2.86;2.86;2.65;2.86;1.64	5.05	-0.831	0.10789	.	1.590530	0.03446	N	0.209940	T	0.11239	0.0274	N	0.03608	-0.345	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.04013	0.0;0.001	T	0.14868	-1.0457	10	0.10902	T	0.67	-1.8185	1.2288	0.01939	0.1376:0.3106:0.1997:0.3521	.	551;470	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	Q	551;392;551;11;470;551	ENSP00000303769:R551Q;ENSP00000363201:R551Q;ENSP00000223791:R11Q;ENSP00000363188:R470Q;ENSP00000309222:R551Q	ENSP00000223791:R11Q	R	-	2	0	AKNA	116169720	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.431000	0.06965	-0.029000	0.13827	-0.793000	0.03317	CGG	AKNA	-	NULL	ENSG00000106948		0.612	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	-	0.00	29	0	C	NM_030767		117129899	-1	tier1	-	no_errors	ENST00000307564	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.000	T
AKR1B15	441282	genome.wustl.edu	37	7	134261164	134261165	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:134261164_134261165insA	ENST00000457545.2	+	9	1067_1068	c.807_808insA	c.(808-810)aaafs	p.K270fs	AKR1B15_ENST00000423958.1_Frame_Shift_Ins_p.K242fs	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	270							oxidoreductase activity (GO:0016491)	p.H269Q(2)|p.H241Q(2)|p.H287Q(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTGCAAAGCACAAAAAAACCAC	0.446																																																	6	Substitution - Missense(6)	lung(6)																																								SO:0001589	frameshift_variant	0				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.814dupA	7.37:g.134261171_134261171dupA	ENSP00000389289:p.Lys270fs		C9J3V2	Frame_Shift_Ins	INS	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.T243fs	ENST00000457545.2	37	c.723_724	CCDS47715.2	7																																																																																			AKR1B15	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	ENSG00000227471		0.446	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	AKR1B15	HGNC	protein_coding	OTTHUMT00000339726.2		0.00	72	0	-			134261165	+1	tier1		no_errors	ENST00000423958	ensembl	human	known	74_37	frame_shift_ins	44.62	36	29	INS	1.000:1.000	A
AKR1E2	83592	genome.wustl.edu	37	10	4872921	4872921	+	Missense_Mutation	SNP	C	C	T	rs368269250		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:4872921C>T	ENST00000298375.7	+	2	165	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W	AKR1E2_ENST00000532248.1_Missense_Mutation_p.R32W|AKR1E2_ENST00000345253.5_Missense_Mutation_p.R32W|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000334019.4_Missense_Mutation_p.R32W	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	32						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CGCAGGGTACCGGCACTTCGA	0.512																																					NSCLC(43;343 1097 20371 28813 45509)												0													183.0	154.0	164.0					10																	4872921		2203	4300	6503	SO:0001583	missense	0			AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.94C>T	10.37:g.4872921C>T	ENSP00000298375:p.Arg32Trp		Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.R32W	ENST00000298375.7	37	c.94	CCDS31134.1	10	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726646	0.30593	.	.	ENSG00000165568	ENST00000533295;ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	3.95	2.03	0.26663	Aldo/keto reductase, conserved site (1);NADP-dependent oxidoreductase domain (3);	0.200818	0.38778	N	0.001565	T	0.62962	0.2471	H	0.97440	4.005	0.46241	D	0.998944	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.992;0.996;0.998;0.999	T	0.62918	-0.6752	10	0.87932	D	0	.	4.9001	0.13769	0.4103:0.4857:0.0:0.104	.	32;32;32;32;32	B7Z7K2;Q96JD6-5;Q96JD6-2;Q96JD6;Q96JD6-3	.;.;.;AKCL2_HUMAN;.	W	36;32;32;32;32	ENSP00000435436:R36W;ENSP00000298375:R32W;ENSP00000432947:R32W;ENSP00000335034:R32W;ENSP00000335603:R32W	ENSP00000298375:R32W	R	+	1	2	AKR1E2	4862921	0.857000	0.29778	0.200000	0.23457	0.075000	0.17131	1.407000	0.34657	0.584000	0.29591	-0.224000	0.12420	CGG	AKR1E2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	ENSG00000165568		0.512	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1E2	HGNC	protein_coding	OTTHUMT00000046520.4	-	0.00	90	0	C	NM_031436		4872921	+1	tier1	-	no_errors	ENST00000298375	ensembl	human	known	74_37	missense	36.04	71	40	SNP	0.966	T
ALDH1A3	220	genome.wustl.edu	37	15	101438350	101438350	+	Frame_Shift_Del	DEL	G	G	-	rs142377552	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:101438350delG	ENST00000329841.5	+	8	1375	c.843delG	c.(841-843)ctgfs	p.L281fs	ALDH1A3_ENST00000346623.6_Frame_Shift_Del_p.L174fs|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	281					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CGCTGGAGCTGGGGGGGAAGA	0.572																																																	0													71.0	69.0	69.0					15																	101438350		2203	4300	6503	SO:0001589	frameshift_variant	0			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.843delG	15.37:g.101438350delG	ENSP00000332256:p.Leu281fs		Q6NT64	Frame_Shift_Del	DEL	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.K284fs	ENST00000329841.5	37	c.843	CCDS10389.1	15																																																																																			ALDH1A3	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	ENSG00000184254		0.572	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A3	HGNC	protein_coding	OTTHUMT00000313620.2		0.00	56	0	G			101438350	+1	tier1		no_errors	ENST00000329841	ensembl	human	known	74_37	frame_shift_del	31.34	46	21	DEL	0.008	-
ALDH1L1	10840	genome.wustl.edu	37	3	125831672	125831672	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:125831672G>A	ENST00000393434.2	-	19	2483	c.2134C>T	c.(2134-2136)Cga>Tga	p.R712*	ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.R611*|ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.R722*|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.R712*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	712	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACAAAGAGTCGGCCTGCTGCA	0.557																																																	0													131.0	123.0	126.0					3																	125831672		2203	4300	6503	SO:0001587	stop_gained	0			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2134C>T	3.37:g.125831672G>A	ENSP00000377083:p.Arg712*		B4DG36|E9PBX3|Q68CS1	Nonsense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.R712*	ENST00000393434.2	37	c.2134	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	G	42	9.643042	0.99227	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	.	.	.	4.51	4.51	0.55191	.	0.063153	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8845	0.41253	0.0:0.0:0.7962:0.2038	.	.	.	.	X	722;712;611;712	.	ENSP00000273450:R722X	R	-	1	2	ALDH1L1	127314362	0.999000	0.42202	0.995000	0.50966	0.852000	0.48524	1.904000	0.39868	2.331000	0.79229	0.467000	0.42956	CGA	ALDH1L1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH	ENSG00000144908		0.557	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1	-	0.00	30	0	G	NM_012190		125831672	-1	tier1	-	no_errors	ENST00000393434	ensembl	human	known	74_37	nonsense	51.85	13	14	SNP	0.985	A
ALDH1L2	160428	genome.wustl.edu	37	12	105464438	105464438	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:105464438G>A	ENST00000258494.9	-	3	478	c.338C>T	c.(337-339)cCc>cTc	p.P113L	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.P113L|RP11-61E11.1_ENST00000547750.1_RNA	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	113	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TATATCCATGGGAATGAACTG	0.478																																																	0													140.0	117.0	125.0					12																	105464438		2203	4300	6503	SO:0001583	missense	0			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.338C>T	12.37:g.105464438G>A	ENSP00000258494:p.Pro113Leu		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.P113L	ENST00000258494.9	37	c.338	CCDS31891.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.384079	0.95967	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.80653	-1.4;-1.4	5.27	5.27	0.74061	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93841	0.8030	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95723	0.8768	10	0.87932	D	0	.	19.2583	0.93955	0.0:0.0:1.0:0.0	.	113	Q3SY69	AL1L2_HUMAN	L	113	ENSP00000258494:P113L;ENSP00000389608:P113L	ENSP00000258494:P113L	P	-	2	0	ALDH1L2	103988568	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.790000	0.99075	2.640000	0.89533	0.655000	0.94253	CCC	ALDH1L2	-	pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH	ENSG00000136010		0.478	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1	-	0.00	60	0	G	XM_090294		105464438	-1	tier1	-	no_errors	ENST00000258494	ensembl	human	known	74_37	missense	39.68	38	25	SNP	1.000	A
ALDH4A1	8659	genome.wustl.edu	37	1	19199403	19199403	+	Missense_Mutation	SNP	G	G	A	rs149468487		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:19199403G>A	ENST00000375341.3	-	15	1885	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L	RP13-279N23.2_ENST00000494072.3_Intron|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.S483L|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.S543L|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.S492L	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	543					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCGGCGACGTCCAGCG	0.587																																																	0								G	LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	119.0	107.0	111.0		1448,1628,1628	4.8	1.0	1	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ALDH4A1	NM_001161504.1,NM_003748.3,NM_170726.2	145,145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	483/504,543/564,543/564	19199403	1,13005	2203	4300	6503	SO:0001583	missense	0			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1628C>T	1.37:g.19199403G>A	ENSP00000364490:p.Ser543Leu		A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	p.S543L	ENST00000375341.3	37	c.1628	CCDS188.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.168847	0.94768	0.0	1.16E-4	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.82	4.82	0.62117	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.269268	0.37348	N	0.002129	T	0.56307	0.1976	M	0.78285	2.405	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	T	0.63134	-0.6705	10	0.87932	D	0	-0.1175	16.4487	0.83972	0.0:0.0:1.0:0.0	.	543	P30038	AL4A1_HUMAN	L	543;543;492;483	ENSP00000290597:S543L;ENSP00000364490:S543L;ENSP00000446071:S492L;ENSP00000442988:S483L	ENSP00000290597:S543L	S	-	2	0	ALDH4A1	19071990	1.000000	0.71417	0.991000	0.47740	0.925000	0.55904	9.504000	0.97986	2.241000	0.73720	0.563000	0.77884	TCG	ALDH4A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	ENSG00000159423		0.587	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	HGNC	protein_coding	OTTHUMT00000006954.1	-	0.00	28	0	G			19199403	-1	tier1	rs149468487	no_errors	ENST00000290597	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	A
ALDOA	226	genome.wustl.edu	37	16	30078291	30078291	+	Intron	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:30078291delC	ENST00000566897.1	+	5	1131				ALDOA_ENST00000563060.2_Intron|ALDOA_ENST00000569545.1_Intron|ALDOA_ENST00000564546.1_Intron|ALDOA_ENST00000338110.5_Intron|ALDOA_ENST00000395248.1_Frame_Shift_Del_p.P26fs|ALDOA_ENST00000564595.2_Frame_Shift_Del_p.P26fs|ALDOA_ENST00000395240.3_Intron|ALDOA_ENST00000569798.1_Intron|ALDOA_ENST00000412304.2_Intron			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate						actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CTTTTCCTTTCCCCCAGTTGC	0.572																																																	0													6.0	5.0	5.0					16																	30078291		848	1916	2764	SO:0001627	intron_variant	0			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.-21-264C>-	16.37:g.30078291delC			B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Frame_Shift_Del	DEL	pfam_Aldolase_I	p.P26fs	ENST00000566897.1	37	c.73	CCDS10668.1	16																																																																																			ALDOA	-	NULL	ENSG00000149925		0.572	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ALDOA	HGNC	protein_coding	OTTHUMT00000435360.1		0.00	43	0	C	NM_000034		30078291	+1	tier1		no_errors	ENST00000395248	ensembl	human	novel	74_37	frame_shift_del	25.64	29	10	DEL	0.001	-
ALG1	56052	genome.wustl.edu	37	16	5128869	5128869	+	Silent	SNP	G	G	A	rs537211066		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:5128869G>A	ENST00000262374.5	+	7	883	c.852G>A	c.(850-852)acG>acA	p.T284T	ALG1_ENST00000544428.1_Silent_p.T173T|ALG1_ENST00000588623.1_Silent_p.T173T	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	284					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TCAGCAGCACGAGCTGGACAG	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		15613	0.0		0.0	False		,,,				2504	0.001																0													18.0	17.0	17.0					16																	5128869		2192	4288	6480	SO:0001819	synonymous_variant	0			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.852G>A	16.37:g.5128869G>A			B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Silent	SNP	pfam_Glyco_trans_1	p.T284	ENST00000262374.5	37	c.852	CCDS10528.1	16																																																																																			ALG1	-	pfam_Glyco_trans_1	ENSG00000033011		0.682	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1	HGNC	protein_coding	OTTHUMT00000251716.2	-	0.00	100	0	G	NM_019109		5128869	+1	tier1	-	no_errors	ENST00000262374	ensembl	human	known	74_37	silent	37.78	56	34	SNP	0.786	A
ALG1	56052	genome.wustl.edu	37	16	5129771	5129771	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:5129771T>C	ENST00000262374.5	+	9	955	c.924T>C	c.(922-924)gaT>gaC	p.D308D	ALG1_ENST00000544428.1_Silent_p.D197D|ALG1_ENST00000588623.1_Silent_p.D197D	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	308					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TGACTCTTGATGGACACAACC	0.458																																																	0													97.0	91.0	93.0					16																	5129771		2197	4300	6497	SO:0001819	synonymous_variant	0			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.924T>C	16.37:g.5129771T>C			B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Silent	SNP	pfam_Glyco_trans_1	p.D308	ENST00000262374.5	37	c.924	CCDS10528.1	16																																																																																			ALG1	-	pfam_Glyco_trans_1	ENSG00000033011		0.458	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1	HGNC	protein_coding	OTTHUMT00000251716.2		0.00	121	0	T	NM_019109		5129771	+1			no_errors	ENST00000262374	ensembl	human	known	74_37	silent	5.19	128	7	SNP	0.000	C
ALG13	79868	genome.wustl.edu	37	X	110987996	110987996	+	Silent	SNP	A	A	T	rs56717389		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:110987996A>T	ENST00000394780.3	+	24	2808	c.2796A>T	c.(2794-2796)ccA>ccT	p.P932P	ALG13_ENST00000251943.4_Intron|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	932	Pro-rich.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)	p.P932P(7)		endometrium(2)|lung(10)|skin(1)	13						caccaccaccacctcctcctc	0.567																																																	7	Substitution - coding silent(7)	endometrium(7)											10.0	8.0	8.0					X																	110987996		1493	3408	4901	SO:0001819	synonymous_variant	0			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2796A>T	X.37:g.110987996A>T			B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	pfam_Glyco_trans_28_C,pfam_OTU,pfscan_OTU,pfscan_Tudor	p.P932	ENST00000394780.3	37	c.2796	CCDS55477.1	X																																																																																			ALG13	-	NULL	ENSG00000101901		0.567	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	-	0.00	9	0	A	NM_018466		110987996	+1	tier1	-	no_errors	ENST00000394780	ensembl	human	putative	74_37	silent	57.14	3	4	SNP	0.007	T
ALG6	29929	genome.wustl.edu	37	1	63836654	63836654	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:63836654G>T	ENST00000371108.4	+	2	311	c.6G>T	c.(4-6)gaG>gaT	p.E2D	ALG6_ENST00000263440.4_Missense_Mutation_p.E2D	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	2					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GAACTATGGAGAAATGGTACT	0.358																																																	0													176.0	176.0	176.0					1																	63836654		2203	4300	6503	SO:0001583	missense	0			AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.6G>T	1.37:g.63836654G>T	ENSP00000360149:p.Glu2Asp		B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	pfam_Glyco_trans_ALG6/ALG8	p.E2D	ENST00000371108.4	37	c.6	CCDS30735.1	1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566544	0.45694	.	.	ENSG00000088035	ENST00000371108;ENST00000263440	T;T	0.70045	-0.45;-0.45	5.75	-0.266	0.12942	.	0.099208	0.64402	N	0.000002	T	0.20618	0.0496	N	0.25647	0.755	0.30840	N	0.735744	B	0.02656	0.0	B	0.06405	0.002	T	0.07290	-1.0780	10	0.11485	T	0.65	-6.1428	4.2017	0.10469	0.3074:0.3225:0.3701:0.0	.	2	A2A2G4	.	D	2	ENSP00000360149:E2D;ENSP00000263440:E2D	ENSP00000263440:E2D	E	+	3	2	ALG6	63609242	0.981000	0.34729	0.925000	0.36789	0.975000	0.68041	-0.009000	0.12765	0.349000	0.23975	0.655000	0.94253	GAG	ALG6	-	NULL	ENSG00000088035		0.358	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	ALG6	HGNC	protein_coding	OTTHUMT00000025330.2	-	0.00	131	0	G	NM_013339		63836654	+1	tier1	-	no_errors	ENST00000371108	ensembl	human	known	74_37	missense	40.50	72	49	SNP	0.514	T
ALMS1	7840	genome.wustl.edu	37	2	73613032	73613034	+	In_Frame_Del	DEL	GGA	GGA	-	rs61156725|rs70965731|rs72319667|rs3074417	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:73613032_73613034delGGA	ENST00000264448.6	+	1	147_149	c.36_38delGGA	c.(34-39)ctggag>ctg	p.E28del	ALMS1_ENST00000377715.1_In_Frame_Del_p.E28del|ALMS1_ENST00000409009.1_In_Frame_Del_p.E28del	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	28	Glu-rich.				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)		p.E27_E28delEE(1)|p.E28_A29insE(1)		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						CGGGCGAGCTggaggaggaggag	0.695																																																	2	Insertion - In frame(1)|Deletion - In frame(1)	ovary(1)|breast(1)																																								SO:0001651	inframe_deletion	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.36_38delGGA	2.37:g.73613041_73613043delGGA	ENSP00000264448:p.Glu28del		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	In_Frame_Del	DEL	NULL	p.E16in_frame_del	ENST00000264448.6	37	c.36_38	CCDS42697.1	2																																																																																			ALMS1	-	NULL	ENSG00000116127		0.695	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1		0.00	25	0	GGA	NM_015120		73613034	+1	tier1		no_errors	ENST00000264448	ensembl	human	known	74_37	in_frame_del	17.50	33	7	DEL	0.989:0.996:1.000	-
ALMS1	7840	genome.wustl.edu	37	2	73676528	73676528	+	Silent	SNP	C	C	T	rs541122374		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:73676528C>T	ENST00000264448.6	+	8	2982	c.2871C>T	c.(2869-2871)agC>agT	p.S957S	ALMS1_ENST00000409009.1_Silent_p.S915S|ALMS1_ENST00000377715.1_Silent_p.S957S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	957	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						ACTCACATAGCGAGAAATCTA	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19917	0.0		0.0	False		,,,				2504	0.0																0													96.0	92.0	93.0					2																	73676528		1856	4106	5962	SO:0001819	synonymous_variant	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.2871C>T	2.37:g.73676528C>T			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	NULL	p.S957	ENST00000264448.6	37	c.2871	CCDS42697.1	2																																																																																			ALMS1	-	NULL	ENSG00000116127		0.448	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	-	0.00	13	0	C	NM_015120		73676528	+1	tier1	-	no_errors	ENST00000264448	ensembl	human	known	74_37	silent	52.00	12	13	SNP	0.000	T
ALOX12P2	245	genome.wustl.edu	37	17	6799719	6799719	+	RNA	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:6799719G>T	ENST00000574727.1	+	0	1164									arachidonate 12-lipoxygenase pseudogene 2											endometrium(1)	1						ATGCGTGGCAGCCCCTTTGGT	0.517																																																	0																																												0			AF020774		17p13.1	2014-03-18			ENSG00000262943	ENSG00000262943			432	pseudogene	pseudogene						9691181	Standard	NR_002710		Approved		uc002gdv.3		OTTHUMG00000177324		17.37:g.6799719G>T				RNA	SNP	-	NULL	ENST00000574727.1	37	NULL		17																																																																																			ALOX12P2	-	-	ENSG00000262943		0.517	ALOX12P2-003	KNOWN	basic	processed_transcript	ALOX12P2	HGNC	pseudogene	OTTHUMT00000436284.1	-	0.00	104	0	G			6799719	+1	tier1	-	no_errors	ENST00000570890	ensembl	human	known	74_37	rna	5.00	95	5	SNP	0.992	T
ALPK2	115701	genome.wustl.edu	37	18	56246390	56246390	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:56246390G>A	ENST00000361673.3	-	4	1831	c.1618C>T	c.(1618-1620)Ccg>Tcg	p.P540S	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	540						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTCATTCCCGGCTGCCTCACC	0.537											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													186.0	186.0	186.0					18																	56246390		2203	4300	6503	SO:0001583	missense	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1618C>T	18.37:g.56246390G>A	ENSP00000354991:p.Pro540Ser	1014	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.P540S	ENST00000361673.3	37	c.1618	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995832	0.54147	.	.	ENSG00000198796	ENST00000361673	T	0.76316	-1.01	5.76	5.76	0.90799	.	1.364740	0.05289	N	0.520795	D	0.85500	0.5711	L	0.61218	1.895	0.09310	N	1	P	0.47191	0.891	P	0.49637	0.617	T	0.77752	-0.2470	10	0.87932	D	0	0.013	19.5764	0.95446	0.0:0.0:1.0:0.0	.	540	Q86TB3	ALPK2_HUMAN	S	540	ENSP00000354991:P540S	ENSP00000354991:P540S	P	-	1	0	ALPK2	54397370	0.042000	0.20092	0.006000	0.13384	0.003000	0.03518	2.143000	0.42187	2.726000	0.93360	0.655000	0.94253	CCG	ALPK2	-	NULL	ENSG00000198796		0.537	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	-	0.00	33	0	G	NM_052947		56246390	-1	tier1	-	no_errors	ENST00000361673	ensembl	human	known	74_37	missense	37.50	15	9	SNP	0.058	A
ALPK2	115701	genome.wustl.edu	37	18	56247704	56247704	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:56247704C>T	ENST00000361673.3	-	4	517	c.304G>A	c.(304-306)Gtt>Att	p.V102I	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	102	Ig-like 1.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCAACCTCAACGGAAGCAGAA	0.423																																																	0													180.0	164.0	169.0					18																	56247704		1931	4133	6064	SO:0001583	missense	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.304G>A	18.37:g.56247704C>T	ENSP00000354991:p.Val102Ile		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.V102I	ENST00000361673.3	37	c.304	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	C	1.780	-0.482269	0.04383	.	.	ENSG00000198796	ENST00000361673	T	0.33438	1.41	5.92	-7.33	0.01431	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13114	0.0318	N	0.17838	0.53	0.09310	N	1	B	0.20052	0.041	B	0.13407	0.009	T	0.41998	-0.9477	9	0.02654	T	1	0.0673	10.4274	0.44387	0.0:0.4164:0.4139:0.1696	.	102	Q86TB3	ALPK2_HUMAN	I	102	ENSP00000354991:V102I	ENSP00000354991:V102I	V	-	1	0	ALPK2	54398684	0.000000	0.05858	0.000000	0.03702	0.594000	0.36715	-3.497000	0.00451	-1.675000	0.01459	0.467000	0.42956	GTT	ALPK2	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000198796		0.423	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	-	0.00	66	0	C	NM_052947		56247704	-1	tier1	-	no_errors	ENST00000361673	ensembl	human	known	74_37	missense	36.05	55	31	SNP	0.000	T
ALPK3	57538	genome.wustl.edu	37	15	85382275	85382275	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:85382275G>T	ENST00000258888.5	+	4	1142	c.975G>T	c.(973-975)ttG>ttT	p.L325F		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	325	Ig-like 1.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACTGTGGCTTGCCAAAATATG	0.567																																																	0													55.0	45.0	48.0					15																	85382275		2203	4299	6502	SO:0001583	missense	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.975G>T	15.37:g.85382275G>T	ENSP00000258888:p.Leu325Phe		Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom	p.L325F	ENST00000258888.5	37	c.975	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486122	0.63962	.	.	ENSG00000136383	ENST00000258888	T	0.67171	-0.25	4.89	3.97	0.46021	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000015	T	0.75391	0.3843	L	0.52573	1.65	0.38380	D	0.945107	D	0.89917	1.0	D	0.91635	0.999	T	0.77887	-0.2420	10	0.62326	D	0.03	-7.6395	11.1119	0.48237	0.0915:0.0:0.9085:0.0	.	325	Q96L96	ALPK3_HUMAN	F	325	ENSP00000258888:L325F	ENSP00000258888:L325F	L	+	3	2	ALPK3	83183279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.670000	0.37502	1.057000	0.40506	0.491000	0.48974	TTG	ALPK3	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000136383		0.567	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	-	0.00	88	0	G	NM_020778		85382275	+1	tier1	-	no_errors	ENST00000258888	ensembl	human	known	74_37	missense	7.25	64	5	SNP	1.000	T
ALS2CL	259173	genome.wustl.edu	37	3	46722636	46722636	+	Intron	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:46722636A>G	ENST00000318962.4	-	13	1520				ALS2CL_ENST00000415953.1_Intron	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like						endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TAAGAGAGACACAGTGGGGGA	0.652																																																	0																																										SO:0001627	intron_variant	0			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1436+99T>C	3.37:g.46722636A>G			Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	pfam_MORN,superfamily_DH-domain,smart_MORN	p.V504A	ENST00000318962.4	37	c.1511	CCDS2743.1	3																																																																																			ALS2CL	-	NULL	ENSG00000178038		0.652	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3	-	0.00	79	0	A	NM_147129		46722636	-1	tier1	-	no_errors	ENST00000431015	ensembl	human	known	74_37	missense	8.82	62	6	SNP	0.000	G
ALS2CL	259173	genome.wustl.edu	37	3	46729610	46729610	+	Missense_Mutation	SNP	G	G	T	rs144978241		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:46729610G>T	ENST00000318962.4	-	3	363	c.280C>A	c.(280-282)Cgt>Agt	p.R94S	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R94S	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	94					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R94C(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCAGTACACGGTCAGCACCT	0.617																																																	1	Substitution - Missense(1)	skin(1)											67.0	56.0	60.0					3																	46729610		2203	4299	6502	SO:0001583	missense	0			AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.280C>A	3.37:g.46729610G>T	ENSP00000313670:p.Arg94Ser		Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9	p.R94S	ENST00000318962.4	37	c.280	CCDS2743.1	3	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660665	0.29515	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.17054	2.3;2.3	4.36	2.47	0.30058	Dbl homology (DH) domain (1);	1.243340	0.05657	N	0.586138	T	0.11410	0.0278	N	0.24115	0.695	0.18873	N	0.999983	B	0.25743	0.133	B	0.17433	0.018	T	0.35351	-0.9792	10	0.22109	T	0.4	.	6.2172	0.20661	0.1044:0.1875:0.7081:0.0	.	94	Q60I27	AL2CL_HUMAN	S	94	ENSP00000313670:R94S;ENSP00000413223:R94S	ENSP00000313670:R94S	R	-	1	0	ALS2CL	46704614	0.934000	0.31675	0.035000	0.18076	0.637000	0.38172	1.435000	0.34969	0.524000	0.28502	0.591000	0.81541	CGT	ALS2CL	-	superfamily_DH-domain	ENSG00000178038		0.617	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2CL	HGNC	protein_coding	OTTHUMT00000250567.3		0.00	47	0	G	NM_147129		46729610	-1			no_errors	ENST00000318962	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.110	T
ALS2CR12	130540	genome.wustl.edu	37	2	202216070	202216070	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:202216070G>A	ENST00000286190.5	-	1	104	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	ALS2CR12_ENST00000392257.3_Missense_Mutation_p.R20W|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.R20W|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.R20W			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	20					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						ATTAGCTTCCGTGGTCCCAAG	0.557																																																	0													102.0	96.0	98.0					2																	202216070		2203	4300	6503	SO:0001583	missense	0			AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.58C>T	2.37:g.202216070G>A	ENSP00000286190:p.Arg20Trp		G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	superfamily_t-SNARE	p.R20W	ENST00000286190.5	37	c.58	CCDS2346.1	2	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877799	0.72294	.	.	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709;ENST00000418364	T;T;T;T;T	0.59224	0.82;0.82;0.82;0.82;0.28	5.06	0.723	0.18231	.	0.317119	0.23103	N	0.051893	T	0.64034	0.2562	L	0.54323	1.7	0.23249	N	0.998047	D;D	0.76494	0.999;0.999	P;P	0.59288	0.855;0.855	T	0.58864	-0.7561	10	0.72032	D	0.01	-5.5698	11.659	0.51334	0.0:0.0:0.3819:0.6181	.	20;20	Q96Q35;G5E9S3	AL2SB_HUMAN;.	W	20	ENSP00000286190:R20W;ENSP00000385098:R20W;ENSP00000376086:R20W;ENSP00000412073:R20W;ENSP00000407585:R20W	ENSP00000286190:R20W	R	-	1	2	ALS2CR12	201924315	0.052000	0.20516	0.899000	0.35326	0.903000	0.53119	0.727000	0.25999	0.322000	0.23283	0.655000	0.94253	CGG	ALS2CR12	-	NULL	ENSG00000155749		0.557	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	ALS2CR12	HGNC	protein_coding	OTTHUMT00000256286.1	-	0.00	66	0	G	NM_139163		202216070	-1	tier1	-	no_errors	ENST00000286190	ensembl	human	known	74_37	missense	28.30	38	15	SNP	0.838	A
ALX4	60529	genome.wustl.edu	37	11	44286624	44286624	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:44286624delG	ENST00000329255.3	-	4	1119	c.1016delC	c.(1015-1017)cctfs	p.P339fs		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	339					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CCCAGAGCCAGGGGGGTGGGC	0.692																																																	0													26.0	27.0	27.0					11																	44286624		2200	4297	6497	SO:0001589	frameshift_variant	0			AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.1016delC	11.37:g.44286624delG	ENSP00000332744:p.Pro339fs		Q96JN7|Q9H198|Q9HAY9	Frame_Shift_Del	DEL	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.P339fs	ENST00000329255.3	37	c.1016	CCDS31468.1	11																																																																																			ALX4	-	NULL	ENSG00000052850		0.692	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALX4	HGNC	protein_coding	OTTHUMT00000390399.1		0.00	65	0	G			44286624	-1	tier1		no_errors	ENST00000329255	ensembl	human	known	74_37	frame_shift_del	33.87	41	21	DEL	0.977	-
AMACR	23600	genome.wustl.edu	37	5	33989302	33989302	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:33989302G>A	ENST00000335606.6	-	5	1133	c.1045C>T	c.(1045-1047)Cac>Tac	p.H349Y	AMACR_ENST00000382085.3_Missense_Mutation_p.H349Y|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.H334Y|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000514195.1_5'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	349					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						TCCTCAGTGTGTTCTCCTATG	0.448																																																	0													89.0	92.0	91.0					5																	33989302		2203	4300	6503	SO:0001583	missense	0			AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.1045C>T	5.37:g.33989302G>A	ENSP00000334424:p.His349Tyr		A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.H349Y	ENST00000335606.6	37	c.1045	CCDS3902.1	5	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617596	0.87359	.	.	ENSG00000242110	ENST00000335606;ENST00000382085;ENST00000502637	T;T;T	0.74842	-0.88;-0.88;-0.88	5.6	5.6	0.85130	CoA-transferase family III domain (1);	0.000000	0.85682	D	0.000000	D	0.89350	0.6690	M	0.90759	3.145	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.995	D;D;D	0.75484	0.986;0.961;0.961	D	0.90569	0.4521	10	0.72032	D	0.01	-26.3242	19.9797	0.97321	0.0:0.0:1.0:0.0	.	349;334;349	F8W9N1;D6RB81;Q9UHK6	.;.;AMACR_HUMAN	Y	349;349;334	ENSP00000334424:H349Y;ENSP00000371517:H349Y;ENSP00000424351:H334Y	ENSP00000334424:H349Y	H	-	1	0	AMACR	34025059	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	9.456000	0.97628	2.791000	0.96007	0.637000	0.83480	CAC	AMACR	-	superfamily_CoA-Trfase_III_dom	ENSG00000242110		0.448	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMACR	HGNC	protein_coding	OTTHUMT00000207467.1	-	0.00	53	0	G	NM_014324		33989302	-1	tier1	-	no_errors	ENST00000335606	ensembl	human	known	74_37	missense	26.00	74	26	SNP	1.000	A
AMER3	205147	genome.wustl.edu	37	2	131520251	131520251	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:131520251delC	ENST00000423981.1	+	2	716	c.606delC	c.(604-606)ctcfs	p.L202fs	AMER3_ENST00000321420.4_Frame_Shift_Del_p.L202fs	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	202					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AAGCCTTCCTCCCCCCGGGTG	0.692																																																	0													24.0	30.0	27.0					2																	131520251		2196	4288	6484	SO:0001589	frameshift_variant	0			AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.606delC	2.37:g.131520251delC	ENSP00000392700:p.Leu202fs		B7ZLH6	Frame_Shift_Del	DEL	pfam_Uncharacterised_FAM123	p.P204fs	ENST00000423981.1	37	c.606	CCDS2164.1	2																																																																																			AMER3	-	NULL	ENSG00000178171		0.692	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AMER3	HGNC	protein_coding	OTTHUMT00000254531.3		0.00	29	0	C	NM_152698		131520251	+1	tier1		no_errors	ENST00000321420	ensembl	human	known	74_37	frame_shift_del	37.50	15	9	DEL	0.000	-
AMFR	267	genome.wustl.edu	37	16	56396935	56396935	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:56396935C>T	ENST00000290649.5	-	14	2028	c.1818G>A	c.(1816-1818)gcG>gcA	p.A606A		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	606					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TCTCTGAGGCCGCATCATCTT	0.547																																					Pancreas(2;144 323 39528)												0													44.0	43.0	44.0					16																	56396935		2198	4300	6498	SO:0001819	synonymous_variant	0			L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1818G>A	16.37:g.56396935C>T			P26442|Q8IZ70	Silent	SNP	pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING	p.A606	ENST00000290649.5	37	c.1818	CCDS10758.1	16																																																																																			AMFR	-	NULL	ENSG00000159461		0.547	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMFR	HGNC	protein_coding	OTTHUMT00000256978.2		0.00	59	0	C			56396935	-1			no_errors	ENST00000290649	ensembl	human	known	74_37	silent	6.25	45	3	SNP	0.000	T
AMHR2	269	genome.wustl.edu	37	12	53825226	53825226	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:53825226C>A	ENST00000257863.4	+	11	1771	c.1691C>A	c.(1690-1692)cCt>cAt	p.P564H	AMHR2_ENST00000379791.3_Missense_Mutation_p.P469H|AMHR2_ENST00000550311.1_3'UTR	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	564					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TCCAGGAATCCTCAGCCTGCC	0.493																																																	0													132.0	110.0	117.0					12																	53825226		2203	4300	6503	SO:0001583	missense	0			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1691C>A	12.37:g.53825226C>A	ENSP00000257863:p.Pro564His		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	pirsf_Anti-muellerian_hrmn_rcpt_II,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P564H	ENST00000257863.4	37	c.1691	CCDS8858.1	12	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362287	0.41902	.	.	ENSG00000135409	ENST00000257863;ENST00000379791	D;D	0.95724	-3.44;-3.79	4.64	1.78	0.24846	.	0.261494	0.20471	N	0.091687	D	0.88119	0.6351	N	0.24115	0.695	0.09310	N	1	B	0.34015	0.435	B	0.30105	0.111	T	0.81333	-0.0980	10	0.87932	D	0	.	4.0834	0.09937	0.1847:0.6197:0.0:0.1956	.	564	Q16671	AMHR2_HUMAN	H	564;469	ENSP00000257863:P564H;ENSP00000369117:P469H	ENSP00000257863:P564H	P	+	2	0	AMHR2	52111493	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	1.156000	0.31712	0.279000	0.22186	-0.251000	0.11542	CCT	AMHR2	-	pirsf_Anti-muellerian_hrmn_rcpt_II	ENSG00000135409		0.493	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMHR2	HGNC	protein_coding	OTTHUMT00000407048.1	-	0.00	34	0	C	NM_020547		53825226	+1	tier1	-	no_errors	ENST00000257863	ensembl	human	known	74_37	missense	30.30	23	10	SNP	0.000	A
AMOTL1	154810	genome.wustl.edu	37	11	94602625	94602625	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:94602625C>T	ENST00000433060.2	+	12	2892	c.2751C>T	c.(2749-2751)acC>acT	p.T917T	AMOTL1_ENST00000317837.9_Silent_p.T504T|AMOTL1_ENST00000317829.8_Silent_p.T867T	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	917					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCAAAGGGACCGCAGAGAAAC	0.597																																																	0													17.0	21.0	19.0					11																	94602625		1963	4135	6098	SO:0001819	synonymous_variant	0			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2751C>T	11.37:g.94602625C>T			Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.T917	ENST00000433060.2	37	c.2751	CCDS44712.1	11																																																																																			AMOTL1	-	NULL	ENSG00000166025		0.597	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	-	0.00	30	0	C	NM_130847		94602625	+1	tier1	-	no_errors	ENST00000433060	ensembl	human	known	74_37	silent	65.38	9	17	SNP	0.000	T
ANAPC1	64682	genome.wustl.edu	37	2	112614257	112614258	+	Splice_Site	INS	-	-	T	rs4067742		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:112614257_112614258insT	ENST00000341068.3	-	13	2222		c.e13-1			NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGTCTATTTTCTAAAAAAACAA	0.361																																																	0																																										SO:0001630	splice_region_variant	0			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1450-1->A	2.37:g.112614258_112614258dupT			Q2M3H8|Q9BSE6|Q9H8D0	Splice_Site	INS	-	e12-1	ENST00000341068.3	37	c.1450-2_1450-1	CCDS2093.1	2																																																																																			ANAPC1	-	-	ENSG00000153107		0.361	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2		0.00	111	0	0	NM_022662	Intron	112614258	-1			no_errors	ENST00000341068	ensembl	human	known	74_37	splice_site_ins	6.71	153	11	INS	0.994:0.992	T
ANAPC16	119504	genome.wustl.edu	37	10	73993364	73993364	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:73993364delT	ENST00000299381.4	+	0	941				ANAPC16_ENST00000470481.2_3'UTR	NM_001242546.1|NM_001242547.1|NM_001242548.1|NM_173473.3	NP_001229475.1|NP_001229476.1|NP_001229477.1|NP_775744.1	Q96DE5	APC16_HUMAN	anaphase promoting complex subunit 16						mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	anaphase-promoting complex (GO:0005680)|cytoplasm (GO:0005737)				large_intestine(1)|ovary(1)	2						TTAAATATTCTTTTTTTTTTC	0.299																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC009530	CCDS7314.1, CCDS73147.1	10q22.2	2011-08-12	2010-04-06	2010-04-06	ENSG00000166295	ENSG00000166295		"""Anaphase promoting complex subunits"""	26976	protein-coding gene	gene with protein product	"""centromere protein 27"""	613427	"""chromosome 10 open reading frame 104"""	C10orf104		14702039, 20360068	Standard	NM_001242546		Approved	bA570G20.3, FLJ33728, APC16, CENP-27	uc021psp.1	Q96DE5	OTTHUMG00000018433	ENST00000299381.4:c.*490T>-	10.37:g.73993364delT				RNA	DEL	-	NULL	ENST00000299381.4	37	NULL	CCDS7314.1	10																																																																																			ANAPC16	-	-	ENSG00000166295		0.299	ANAPC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC16	HGNC	protein_coding	OTTHUMT00000048565.2		0.00	40	0	T	NM_173473		73993364	+1	tier1		no_errors	ENST00000470481	ensembl	human	known	74_37	rna	60.00	16	24	DEL	0.000	-
ANK2	287	genome.wustl.edu	37	4	114280135	114280135	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:114280135delG	ENST00000357077.4	+	38	10414	c.10361delG	c.(10360-10362)aggfs	p.R3454fs	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Del_p.R3421fs|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3454					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T3457fs*8(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTTCCTGCAGGGGGGGCACG	0.453																																																	1	Insertion - Frameshift(1)	ovary(1)											50.0	56.0	54.0					4																	114280135		2197	4296	6493	SO:0001589	frameshift_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10361delG	4.37:g.114280135delG	ENSP00000349588:p.Arg3454fs		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.G3456fs	ENST00000357077.4	37	c.10361	CCDS3702.1	4																																																																																			ANK2	-	NULL	ENSG00000145362		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2		0.00	49	0	G	NM_001148		114280135	+1	tier1		no_errors	ENST00000357077	ensembl	human	known	74_37	frame_shift_del	31.91	32	15	DEL	0.005	-
ANK2	287	genome.wustl.edu	37	4	114279580	114279580	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:114279580G>T	ENST00000357077.4	+	38	9859	c.9806G>T	c.(9805-9807)aGg>aTg	p.R3269M	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R3236M|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3269					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TATTCAGATAGGGGTGATGAT	0.453																																																	0													103.0	100.0	101.0					4																	114279580		2203	4300	6503	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.9806G>T	4.37:g.114279580G>T	ENSP00000349588:p.Arg3269Met		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.R3269M	ENST00000357077.4	37	c.9806	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	4.544	0.100972	0.08731	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.96300	-0.31;-0.32;-3.97	5.81	0.879	0.19155	.	0.511354	0.17884	N	0.158769	D	0.95066	0.8402	L	0.56769	1.78	0.09310	N	1	P;B	0.43169	0.8;0.25	P;B	0.47206	0.541;0.323	D	0.89693	0.3899	10	0.66056	D	0.02	.	9.6608	0.39954	0.5113:0.0:0.4887:0.0	.	3236;3269	Q01484;Q01484-4	ANK2_HUMAN;.	M	3269;3236;279	ENSP00000349588:R3269M;ENSP00000264366:R3236M;ENSP00000422498:R279M	ENSP00000264366:R3236M	R	+	2	0	ANK2	114499029	0.934000	0.31675	0.000000	0.03702	0.117000	0.20001	1.918000	0.40006	0.037000	0.15575	-0.137000	0.14449	AGG	ANK2	-	NULL	ENSG00000145362		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2		0.00	22	0	G	NM_001148		114279580	+1			no_errors	ENST00000357077	ensembl	human	known	74_37	missense	13.33	13	2	SNP	0.002	T
ANKFY1	51479	genome.wustl.edu	37	17	4071196	4071196	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:4071196G>A	ENST00000341657.4	-	25	3422	c.3387C>T	c.(3385-3387)tgC>tgT	p.C1129C	ANKFY1_ENST00000570535.1_Silent_p.C1171C|ANKFY1_ENST00000574367.1_Silent_p.C1130C|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1129					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GAAGACGTCCGCAGTGACGAC	0.498																																																	0													58.0	62.0	61.0					17																	4071196		1970	4155	6125	SO:0001819	synonymous_variant	0			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.3387C>T	17.37:g.4071196G>A			A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.C1171	ENST00000341657.4	37	c.3513		17																																																																																			ANKFY1	-	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	ENSG00000185722		0.498	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	-	0.00	25	0	G	NM_016376		4071196	-1	tier1	-	no_errors	ENST00000570535	ensembl	human	known	74_37	silent	25.00	24	8	SNP	1.000	A
ANKHD1	54882	genome.wustl.edu	37	5	139781739	139781739	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:139781739G>A	ENST00000360839.2	+	1	341	c.187G>A	c.(187-189)Ggc>Agc	p.G63S	ANKHD1_ENST00000394723.3_Missense_Mutation_p.G63S|CTC-329D1.2_ENST00000507521.1_RNA|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G63S|ANKHD1_ENST00000394722.3_Missense_Mutation_p.G63S|ANKHD1_ENST00000297183.6_Missense_Mutation_p.G63S	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	63	Gly-rich.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			cggcggcggcggcagcggcag	0.746																																																	0													4.0	7.0	6.0					5																	139781739		1893	3713	5606	SO:0001583	missense	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.187G>A	5.37:g.139781739G>A	ENSP00000354085:p.Gly63Ser		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.G63S	ENST00000360839.2	37	c.187	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	-	11.80	1.745814	0.30955	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	T;T;T;T;T;T;T	0.72505	-0.24;-0.3;-0.3;-0.37;-0.66;-0.34;-0.3	1.26	0.0651	0.14355	.	0.267991	0.25654	N	0.029190	T	0.62295	0.2416	N	0.14661	0.345	0.22066	N	0.999386	D;B;B;B;B	0.71674	0.998;0.001;0.001;0.13;0.21	D;B;B;B;B	0.65443	0.935;0.0;0.0;0.013;0.013	T	0.54357	-0.8306	10	0.48119	T	0.1	.	3.554	0.07857	0.3196:0.0:0.6804:0.0	.	63;63;63;63;63	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	S	63;77;63;63;63;63;63;63;63	ENSP00000354085:G63S;ENSP00000297183:G63S;ENSP00000394489:G63S;ENSP00000378212:G63S;ENSP00000421069:G63S;ENSP00000378211:G63S;ENSP00000432016:G63S	ENSP00000432016:G63S	G	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139761923	0.968000	0.33430	0.966000	0.40874	0.251000	0.25915	0.000000	0.12993	-0.376000	0.07943	0.000000	0.15137	GGC	ANKHD1	-	NULL	ENSG00000131503		0.746	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	-	0.00	16	0	G	NM_017747		139781739	+1	tier1	-	no_errors	ENST00000297183	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.592	A
ANKK1	255239	genome.wustl.edu	37	11	113270316	113270316	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:113270316C>T	ENST00000303941.3	+	8	1719	c.1625C>T	c.(1624-1626)gCc>gTc	p.A542V		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	542							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AAAGTGAGGGCCATCCAACAC	0.607																																																	0													41.0	48.0	46.0					11																	113270316		2076	4225	6301	SO:0001583	missense	0			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1625C>T	11.37:g.113270316C>T	ENSP00000306678:p.Ala542Val			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.A542V	ENST00000303941.3	37	c.1625	CCDS44734.1	11	.	.	.	.	.	.	.	.	.	.	C	0.192	-1.052377	0.01981	.	.	ENSG00000170209	ENST00000303941	T	0.10763	2.84	4.88	3.94	0.45596	Ankyrin repeat-containing domain (4);	0.110360	0.38217	N	0.001765	T	0.04272	0.0118	N	0.11064	0.09	0.41654	D	0.989146	B	0.12630	0.006	B	0.19666	0.026	T	0.32161	-0.9917	10	0.02654	T	1	-27.658	6.4601	0.21952	0.0:0.7436:0.0:0.2564	.	542	Q8NFD2	ANKK1_HUMAN	V	542	ENSP00000306678:A542V	ENSP00000306678:A542V	A	+	2	0	ANKK1	112775526	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	3.140000	0.50585	2.547000	0.85894	0.563000	0.77884	GCC	ANKK1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000170209		0.607	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKK1	HGNC	protein_coding	OTTHUMT00000395830.1	-	0.00	47	0	C	NM_178510		113270316	+1	tier1	-	no_errors	ENST00000303941	ensembl	human	known	74_37	missense	27.78	26	10	SNP	1.000	T
ANKMY1	51281	genome.wustl.edu	37	2	241459933	241459933	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:241459933C>T	ENST00000272972.3	-	8	1797	c.1583G>A	c.(1582-1584)cGg>cAg	p.R528Q	ANKMY1_ENST00000401804.1_Missense_Mutation_p.R617Q|ANKMY1_ENST00000403283.1_Missense_Mutation_p.R466Q|ANKMY1_ENST00000406958.1_Missense_Mutation_p.R289Q|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373320.4_Missense_Mutation_p.R298Q|ANKMY1_ENST00000405523.3_Missense_Mutation_p.R387Q|ANKMY1_ENST00000391987.1_Missense_Mutation_p.R528Q|ANKMY1_ENST00000361678.4_Missense_Mutation_p.R387Q|ANKMY1_ENST00000373318.2_Missense_Mutation_p.R387Q	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	528							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CTTGATGGTCCGCCAGCGCTT	0.701																																																	0													28.0	29.0	29.0					2																	241459933		2201	4298	6499	SO:0001583	missense	0			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.1583G>A	2.37:g.241459933C>T	ENSP00000272972:p.Arg528Gln		B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.R528Q	ENST00000272972.3	37	c.1583	CCDS2536.1	2	.	.	.	.	.	.	.	.	.	.	C	2.265	-0.368272	0.05069	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000405523	T;T;T;T;T;T;T;T;T	0.71103	-0.26;-0.26;-0.54;-0.26;-0.54;-0.26;-0.54;-0.49;-0.27	3.47	-6.94	0.01633	Ankyrin repeat-containing domain (2);	3.653670	0.00792	N	0.001345	T	0.42223	0.1193	N	0.12502	0.225	0.22240	N	0.999269	B;B;B;B;B;B	0.25206	0.002;0.002;0.0;0.12;0.0;0.002	B;B;B;B;B;B	0.12156	0.001;0.002;0.001;0.007;0.001;0.001	T	0.43909	-0.9362	10	0.13470	T	0.59	-34.5498	1.4027	0.02274	0.1376:0.3204:0.1804:0.3616	.	528;298;387;289;387;528	Q4ZFV3;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6-2;Q9P2S6	.;.;.;.;.;ANKY1_HUMAN	Q	387;289;528;387;528;298;466;617;387	ENSP00000362415:R387Q;ENSP00000384555:R289Q;ENSP00000272972:R528Q;ENSP00000355097:R387Q;ENSP00000375847:R528Q;ENSP00000362417:R298Q;ENSP00000383968:R466Q;ENSP00000385887:R617Q;ENSP00000385635:R387Q	ENSP00000272972:R528Q	R	-	2	0	ANKMY1	241108606	0.000000	0.05858	0.054000	0.19295	0.001000	0.01503	-0.766000	0.04725	-2.548000	0.00481	-1.995000	0.00447	CGG	ANKMY1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt	ENSG00000144504		0.701	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKMY1	HGNC	protein_coding	OTTHUMT00000257187.2	-	0.00	39	0	C	NM_017844		241459933	-1	tier1	-	no_errors	ENST00000272972	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.017	T
ANKMY1	51281	genome.wustl.edu	37	2	241494373	241494373	+	5'UTR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:241494373C>T	ENST00000272972.3	-	0	193				ANKMY1_ENST00000401804.1_Silent_p.V82V|ANKMY1_ENST00000403283.1_Silent_p.V161V|ANKMY1_ENST00000406958.1_Silent_p.V82V|ANKMY1_ENST00000536462.1_Silent_p.V35V|ANKMY1_ENST00000373320.4_5'UTR|ANKMY1_ENST00000405523.3_Silent_p.V82V|ANKMY1_ENST00000405002.1_5'UTR|ANKMY1_ENST00000391987.1_5'UTR|ANKMY1_ENST00000361678.4_Silent_p.V82V|ANKMY1_ENST00000373318.2_Silent_p.V82V|ANKMY1_ENST00000462004.1_5'UTR	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1								metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GCCACTCCTGCACACCCTGGA	0.577																																																	0													172.0	158.0	163.0					2																	241494373		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.-22G>A	2.37:g.241494373C>T			B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.V82	ENST00000272972.3	37	c.246	CCDS2536.1	2																																																																																			ANKMY1	-	NULL	ENSG00000144504		0.577	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKMY1	HGNC	protein_coding	OTTHUMT00000257187.2	-	0.00	26	0	C	NM_017844		241494373	-1	tier1	-	no_errors	ENST00000361678	ensembl	human	known	74_37	silent	21.62	29	8	SNP	0.175	T
ANKMY2	57037	genome.wustl.edu	37	7	16640464	16640464	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:16640464C>T	ENST00000306999.2	-	10	1491	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	416						cilium (GO:0005929)	metal ion binding (GO:0046872)	p.K416N(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GAGATTCTTTCTTTCCTTCCC	0.463																																																	1	Substitution - Missense(1)	large_intestine(1)											86.0	81.0	83.0					7																	16640464		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.1248G>A	7.37:g.16640464C>T			A4D124|Q659G1|Q96BL3	Silent	SNP	pfam_Ankyrin_rpt,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND	p.K416	ENST00000306999.2	37	c.1248	CCDS5361.1	7																																																																																			ANKMY2	-	NULL	ENSG00000106524		0.463	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKMY2	HGNC	protein_coding	OTTHUMT00000207600.2		0.00	43	0	C	NM_020319		16640464	-1			no_errors	ENST00000306999	ensembl	human	known	74_37	silent	7.41	25	2	SNP	0.006	T
ANKRD11	29123	genome.wustl.edu	37	16	89347410	89347410	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:89347410G>A	ENST00000301030.4	-	9	6000	c.5540C>T	c.(5539-5541)tCg>tTg	p.S1847L	ANKRD11_ENST00000378330.2_Missense_Mutation_p.S1847L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1847	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GTACCCTGGCGACAAGCAGGC	0.647																																																	0													37.0	40.0	39.0					16																	89347410		2198	4300	6498	SO:0001583	missense	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5540C>T	16.37:g.89347410G>A	ENSP00000301030:p.Ser1847Leu		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S1847L	ENST00000301030.4	37	c.5540	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	g	20.3	3.971534	0.74246	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.56941	0.43;0.43	4.59	4.59	0.56863	.	0.000000	0.56097	D	0.000027	T	0.60547	0.2277	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	P	0.61800	0.894	T	0.66208	-0.5981	10	0.87932	D	0	.	17.0206	0.86432	0.0:0.0:1.0:0.0	.	1847	Q6UB99	ANR11_HUMAN	L	1847	ENSP00000301030:S1847L;ENSP00000367581:S1847L	ENSP00000301030:S1847L	S	-	2	0	ANKRD11	87874911	1.000000	0.71417	0.997000	0.53966	0.464000	0.32679	8.476000	0.90421	2.104000	0.64026	0.457000	0.33378	TCG	ANKRD11	-	NULL	ENSG00000167522		0.647	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	-	0.00	40	0	G	NM_013275		89347410	-1	tier1	-	no_errors	ENST00000301030	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	A
ANKRD11	29123	genome.wustl.edu	37	16	89349640	89349641	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:89349640_89349641insT	ENST00000301030.4	-	9	3769_3770	c.3309_3310insA	c.(3307-3312)aaagatfs	p.D1104fs	ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.D1104fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1104	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTGTCATCTTTTTTTTCAG	0.465																																																	0																																										SO:0001589	frameshift_variant	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3310dupA	16.37:g.89349648_89349648dupT	ENSP00000301030:p.Asp1104fs		Q6NTG1|Q6QMF8	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D1103fs	ENST00000301030.4	37	c.3310_3309	CCDS32513.1	16																																																																																			ANKRD11	-	NULL	ENSG00000167522		0.465	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3		0.00	42	0	-	NM_013275		89349641	-1	tier1		no_errors	ENST00000301030	ensembl	human	known	74_37	frame_shift_ins	20.00	28	7	INS	1.000:1.000	T
ANKRD11	29123	genome.wustl.edu	37	16	89357574	89357574	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:89357574G>A	ENST00000301030.4	-	5	704	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R82W	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	82					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ATCCTCTTCCGCTCAGGGCCC	0.607																																																	0													45.0	50.0	49.0					16																	89357574		2198	4300	6498	SO:0001583	missense	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.244C>T	16.37:g.89357574G>A	ENSP00000301030:p.Arg82Trp		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R82W	ENST00000301030.4	37	c.244	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239556	0.79800	.	.	ENSG00000167522	ENST00000301030;ENST00000378330;ENST00000378332	T;T	0.50548	0.74;0.74	5.74	3.71	0.42584	.	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.965;0.991	T	0.61028	-0.7145	10	0.87932	D	0	.	13.6953	0.62575	0.0:0.0:0.5948:0.4052	.	82;96;82	A8K4M9;Q59GC3;Q6UB99	.;.;ANR11_HUMAN	W	82;82;96	ENSP00000301030:R82W;ENSP00000367581:R82W	ENSP00000301030:R82W	R	-	1	2	ANKRD11	87885075	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.204000	0.42761	0.705000	0.31890	-0.182000	0.12963	CGG	ANKRD11	-	NULL	ENSG00000167522		0.607	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	-	0.00	41	0	G	NM_013275		89357574	-1	tier1	-	no_errors	ENST00000301030	ensembl	human	known	74_37	missense	51.52	16	17	SNP	1.000	A
ANKRD20A19P	400110	genome.wustl.edu	37	13	24515468	24515468	+	RNA	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:24515468delT	ENST00000442969.1	-	0	1288									ankyrin repeat domain 20 family, member A19, pseudogene																		GGGAAAGCAGTTTTTTTGCCA	0.413																																																	0																																												0					13q12.12	2012-10-16			ENSG00000196593	ENSG00000196593			42737	pseudogene	pseudogene							Standard	NR_073430		Approved		uc001upb.2		OTTHUMG00000016572		13.37:g.24515468delT				RNA	DEL	-	NULL	ENST00000442969.1	37	NULL		13																																																																																			ANKRD20A19P	-	-	ENSG00000196593		0.413	ANKRD20A19P-001	KNOWN	basic	processed_transcript	ANKRD20A19P	HGNC	pseudogene	OTTHUMT00000044167.2		0.00	154	0	T			24515468	-1	tier1		no_errors	ENST00000420143	ensembl	human	known	74_37	rna	32.56	145	70	DEL	0.055	-
ANKRD20A4	728747	genome.wustl.edu	37	9	69421905	69421905	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:69421905delA	ENST00000357336.3	+	14	1650	c.1369delA	c.(1369-1371)aaafs	p.K458fs		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	458										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						TATGCTGTACAAAAAAAATAG	0.269																																																	0													2.0	2.0	2.0					9																	69421905		406	1294	1700	SO:0001589	frameshift_variant	0				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.1369delA	9.37:g.69421905delA	ENSP00000349891:p.Lys458fs			Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.N459fs	ENST00000357336.3	37	c.1369	CCDS43828.1	9																																																																																			ANKRD20A4	-	NULL	ENSG00000172014		0.269	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A4	HGNC	protein_coding	OTTHUMT00000143287.3		0.00	64	0	A	NM_001098805		69421905	+1			no_errors	ENST00000357336	ensembl	human	known	74_37	frame_shift_del	12.70	55	8	DEL	0.373	0
ANKRD20A5P	440482	genome.wustl.edu	37	18	14179418	14179418	+	RNA	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:14179418C>T	ENST00000581935.1	+	0	323							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						CTTCAGGAGCCGCAGGGGCCA	0.592																																																	0																																												0			BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14179418C>T			Q4G1B6	RNA	SNP	-	NULL	ENST00000581935.1	37	NULL		18																																																																																			ANKRD20A5P	-	-	ENSG00000186481		0.592	ANKRD20A5P-002	KNOWN	basic	processed_transcript	ANKRD20A5P	HGNC	pseudogene	OTTHUMT00000442833.1	-	0.00	110	0	C			14179418	+1	tier1	-	no_errors	ENST00000581181	ensembl	human	known	74_37	rna	35.79	61	34	SNP	0.000	T
ANKRD20A8P	729171	genome.wustl.edu	37	2	95483039	95483039	+	RNA	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:95483039delT	ENST00000432432.2	-	0	1488					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		TTCTTCTCTATTTTTTTTGTA	0.274																																																	0																																												0					2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95483039delT			A6NC18	RNA	DEL	-	NULL	ENST00000432432.2	37	NULL		2																																																																																			ANKRD20A8P	-	-	ENSG00000229089		0.274	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	ANKRD20A8P	HGNC	pseudogene	OTTHUMT00000451404.1		0.00	71	0	T			95483039	-1			no_errors	ENST00000432432	ensembl	human	known	74_37	rna	41.56	45	32	DEL	0.232	0
ANKRD26	22852	genome.wustl.edu	37	10	27368033	27368033	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:27368033G>A	ENST00000376087.4	-	7	963	c.798C>T	c.(796-798)ctC>ctT	p.L266L	ANKRD26_ENST00000436985.2_Silent_p.L315L|ANKRD26_ENST00000466890.1_5'UTR	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	266					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TATCAAAATTGAGGTCTTCGT	0.343																																																	0													94.0	89.0	91.0					10																	27368033		1841	4088	5929	SO:0001819	synonymous_variant	0			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.798C>T	10.37:g.27368033G>A			A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Silent	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L315	ENST00000376087.4	37	c.945	CCDS41499.1	10																																																																																			ANKRD26	-	NULL	ENSG00000107890		0.343	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	HGNC	protein_coding	OTTHUMT00000047296.1	-	0.00	40	0	G			27368033	-1	tier1	-	no_errors	ENST00000436985	ensembl	human	known	74_37	silent	41.94	36	26	SNP	0.000	A
ANKRD27	84079	genome.wustl.edu	37	19	33130392	33130392	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:33130392A>G	ENST00000306065.4	-	12	1144	c.986T>C	c.(985-987)aTg>aCg	p.M329T	ANKRD27_ENST00000587352.1_Missense_Mutation_p.M329T	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	329	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CAAATTTGCCATCCTAATGAA	0.373																																																	0													135.0	131.0	132.0					19																	33130392		2203	4300	6503	SO:0001583	missense	0			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.986T>C	19.37:g.33130392A>G	ENSP00000304292:p.Met329Thr		Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt	p.M329T	ENST00000306065.4	37	c.986	CCDS32986.1	19	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992976	0.54041	.	.	ENSG00000105186	ENST00000306065	T	0.29397	1.57	5.29	5.29	0.74685	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.64402	D	0.000001	T	0.31451	0.0797	N	0.26042	0.785	0.80722	D	1	P	0.48589	0.912	P	0.52267	0.694	T	0.02925	-1.1093	10	0.12103	T	0.63	-38.6691	15.5408	0.76043	1.0:0.0:0.0:0.0	.	329	Q96NW4	ANR27_HUMAN	T	329	ENSP00000304292:M329T	ENSP00000304292:M329T	M	-	2	0	ANKRD27	37822232	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.136000	0.89610	2.120000	0.65058	0.460000	0.39030	ATG	ANKRD27	-	pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9	ENSG00000105186		0.373	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD27	HGNC	protein_coding	OTTHUMT00000450329.1	-	0.00	63	0	A	NM_032139		33130392	-1	tier1	-	no_errors	ENST00000306065	ensembl	human	known	74_37	missense	13.95	37	6	SNP	1.000	G
ANKRD30A	91074	genome.wustl.edu	37	10	37431116	37431116	+	Missense_Mutation	SNP	G	G	A	rs373496322		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:37431116G>A	ENST00000602533.1	+	7	1222	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.V375M|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.V375M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	431					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GACTGGATGCGTGGCAAGAGT	0.388																																																	0								G	MET/VAL	1,3737		0,1,1868	75.0	75.0	75.0		1123	0.1	0.0	10		75	0,8230		0,0,4115	no	missense	ANKRD30A	NM_052997.2	21	0,1,5983	AA,AG,GG		0.0,0.0268,0.0084	benign	375/1342	37431116	1,11967	1869	4115	5984	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1123G>A	10.37:g.37431116G>A	ENSP00000473551:p.Val375Met		Q5W025	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V375M	ENST00000602533.1	37	c.1123		10	.	.	.	.	.	.	.	.	.	.	.	6.416	0.444848	0.12164	2.68E-4	0.0	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.50813	0.8;0.73	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.30008	0.0751	L	0.40543	1.245	0.09310	N	1	P	0.47841	0.901	B	0.34779	0.189	T	0.15492	-1.0435	8	0.51188	T	0.08	.	.	.	.	.	431	Q9BXX3	AN30A_HUMAN	M	375	ENSP00000354432:V375M;ENSP00000363792:V375M	ENSP00000354432:V375M	V	+	1	0	ANKRD30A	37471122	0.003000	0.15002	0.013000	0.15412	0.013000	0.08279	-0.895000	0.04118	0.132000	0.18615	0.134000	0.15878	GTG	ANKRD30A	-	NULL	ENSG00000148513		0.388	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2		0.00	24	0	G	NM_052997		37431116	+1			no_errors	ENST00000361713	ensembl	human	known	74_37	missense	33.33	4	2	SNP	0.014	A
ANKRD30BP2	149992	genome.wustl.edu	37	21	14421333	14421333	+	RNA	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:14421333C>A	ENST00000507941.1	+	0	1354				RNU6-614P_ENST00000384369.1_RNA					ankyrin repeat domain 30B pseudogene 2																		TCTAAAAATTCTCAAAATAGT	0.264																																																	0																																												0			AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14421333C>A				RNA	SNP	-	NULL	ENST00000507941.1	37	NULL		21																																																																																			ANKRD30BP2	-	-	ENSG00000224309		0.264	ANKRD30BP2-004	KNOWN	basic	processed_transcript	ANKRD30BP2	HGNC	pseudogene	OTTHUMT00000372094.1	-	0.00	76	0	C	NR_026916		14421333	+1	tier1	-	no_errors	ENST00000471407	ensembl	human	known	74_37	rna	35.21	46	25	SNP	0.001	A
ANKRD35	148741	genome.wustl.edu	37	1	145562534	145562534	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:145562534G>A	ENST00000355594.4	+	10	2309	c.2222G>A	c.(2221-2223)cGg>cAg	p.R741Q		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	741										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GATCGGCACCGGGAGGCCCAG	0.652																																					Melanoma(9;127 754 22988 51047)												0													13.0	15.0	15.0					1																	145562534		2196	4295	6491	SO:0001583	missense	0			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2222G>A	1.37:g.145562534G>A	ENSP00000347802:p.Arg741Gln		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R741Q	ENST00000355594.4	37	c.2222	CCDS919.1	1	.	.	.	.	.	.	.	.	.	.	G	1.817	-0.473109	0.04445	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.54479	0.57	4.98	-0.699	0.11277	.	0.762865	0.11631	N	0.544781	T	0.14399	0.0348	L	0.44542	1.39	0.09310	N	0.999999	B	0.21452	0.056	B	0.16289	0.015	T	0.21724	-1.0237	10	0.14252	T	0.57	-0.7802	3.0279	0.06097	0.2893:0.0:0.3735:0.3372	.	741	Q8N283	ANR35_HUMAN	Q	650;741	ENSP00000347802:R741Q	ENSP00000347802:R741Q	R	+	2	0	ANKRD35	144273891	0.000000	0.05858	0.559000	0.28332	0.189000	0.23516	0.128000	0.15810	0.008000	0.14787	-0.926000	0.02714	CGG	ANKRD35	-	NULL	ENSG00000198483		0.652	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD35	HGNC	protein_coding	OTTHUMT00000038515.1	-	0.00	60	0	G	NM_144698		145562534	+1	tier1	-	no_errors	ENST00000355594	ensembl	human	known	74_37	missense	47.06	27	24	SNP	0.052	A
ANKRD35	148741	genome.wustl.edu	37	1	145562653	145562653	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:145562653G>T	ENST00000355594.4	+	10	2428	c.2341G>T	c.(2341-2343)Gct>Tct	p.A781S		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	781										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCAAGTGGCCGCTCTGGAGCA	0.627																																					Melanoma(9;127 754 22988 51047)												0													11.0	13.0	12.0					1																	145562653		2156	4251	6407	SO:0001583	missense	0			AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.2341G>T	1.37:g.145562653G>T	ENSP00000347802:p.Ala781Ser		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A781S	ENST00000355594.4	37	c.2341	CCDS919.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029444	0.75504	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.55234	0.53	5.22	5.22	0.72569	.	0.000000	0.50627	D	0.000107	T	0.55545	0.1927	L	0.57536	1.79	0.80722	D	1	D	0.71674	0.998	D	0.69307	0.963	T	0.48670	-0.9015	10	0.16896	T	0.51	-9.4225	14.1487	0.65367	0.0:0.0:1.0:0.0	.	781	Q8N283	ANR35_HUMAN	S	690;781	ENSP00000347802:A781S	ENSP00000347802:A781S	A	+	1	0	ANKRD35	144274010	0.985000	0.35326	0.963000	0.40424	0.844000	0.47949	4.141000	0.58038	2.703000	0.92315	0.655000	0.94253	GCT	ANKRD35	-	NULL	ENSG00000198483		0.627	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD35	HGNC	protein_coding	OTTHUMT00000038515.1	-	0.00	80	0	G	NM_144698		145562653	+1	tier1	-	no_errors	ENST00000355594	ensembl	human	known	74_37	missense	42.11	33	24	SNP	0.988	T
ANKRD36C	400986	genome.wustl.edu	37	2	96592969	96592969	+	Silent	SNP	A	A	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:96592969A>C	ENST00000456556.1	-	28	2016	c.1932T>G	c.(1930-1932)tcT>tcG	p.S644S	ANKRD36C_ENST00000420871.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR|ANKRD36C_ENST00000419039.2_5'UTR			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	644							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TACCTGTCCCAGATTGTTGTC	0.363																																																	0																																										SO:0001819	synonymous_variant	0			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1932T>G	2.37:g.96592969A>C			C9JZ08|Q15694|Q53S06|Q658V2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S644	ENST00000456556.1	37	c.1932		2																																																																																			ANKRD36C	-	NULL	ENSG00000174501		0.363	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2	-	0.00	187	0	A	NM_001010914		96592969	-1	tier1	-	no_errors	ENST00000456556	ensembl	human	known	74_37	silent	50.70	106	109	SNP	0.001	C
ANKRD36	375248	genome.wustl.edu	37	2	97899538	97899538	+	Silent	SNP	C	C	T	rs542257844	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:97899538C>T	ENST00000461153.2	+	68	4345	c.4101C>T	c.(4099-4101)gaC>gaT	p.D1367D	ANKRD36_ENST00000420699.2_Silent_p.D1367D			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1367										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TCTCAGAGGACGGTGACTCGC	0.338													c|||	2	0.000399361	0.0015	0.0	5008	,	,		22695	0.0		0.0	False		,,,				2504	0.0																0													1.0	1.0	1.0					2																	97899538		448	1040	1488	SO:0001819	synonymous_variant	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.4101C>T	2.37:g.97899538C>T			B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D1367	ENST00000461153.2	37	c.4101	CCDS54379.1	2																																																																																			ANKRD36	-	NULL	ENSG00000135976		0.338	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	-	0.00	29	0	C			97899538	+1	tier1	-	no_errors	ENST00000420699	ensembl	human	known	74_37	silent	34.21	25	13	SNP	0.094	T
ANKRD42	338699	genome.wustl.edu	37	11	82966931	82966932	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:82966931_82966932delAA	ENST00000260047.6	+	12	2304_2305	c.1509_1510delAA	c.(1507-1512)gtaaaafs	p.K506fs	ANKRD42_ENST00000531895.1_Stop_Codon_Del|ANKRD42_ENST00000528190.1_3'UTR			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	0					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGAGGCGAGTAAAAAAAAAGGT	0.356																																																	0																																										SO:0001589	frameshift_variant	0			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000260047.6:c.1509_1510delAA	11.37:g.82966937_82966938delAA	ENSP00000260047:p.Lys506fs		Q49A49	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K506fs	ENST00000260047.6	37	c.1509_1510		11																																																																																			ANKRD42	-	NULL	ENSG00000137494		0.356	ANKRD42-004	PUTATIVE	basic	protein_coding	ANKRD42	HGNC	protein_coding	OTTHUMT00000392931.1		0.00	54	0	AA	NM_182603		82966932	+1	tier1		no_errors	ENST00000260047	ensembl	human	putative	74_37	frame_shift_del	38.89	33	21	DEL	0.991:1.000	-
ANKRD49	54851	genome.wustl.edu	37	11	94230120	94230120	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:94230120delA	ENST00000544612.1	+	2	755				ANKRD49_ENST00000302755.4_Intron|ANKRD49_ENST00000540349.1_Frame_Shift_Del_p.V87fs|ANKRD49_ENST00000544253.1_Frame_Shift_Del_p.V87fs	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49						positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAATCGGGTAAAAAAAAAAA	0.393																																					Melanoma(113;823 1621 4352 9582 22033)												0										63,63,3768		1,3,58,3,54,1828	61.0	68.0	66.0			5.9	1.0	11		67	116,163,7783		4,1,107,2,158,3759	no	intron	ANKRD49	NM_017704.2		5,4,165,5,212,5587	A1A1,A1A2,A1R,A2A2,A2R,RR		3.4607,3.2357,3.3874			94230120	179,226,11551	2089	4253	6342	SO:0001627	intron_variant	0			AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.258+3A>-	11.37:g.94230120delA			Q8NDF2|Q96JE5|Q9NXK7	Frame_Shift_Del	DEL	NULL	p.K90fs	ENST00000544612.1	37	c.261	CCDS8300.1	11																																																																																			ANKRD49	-	NULL	ENSG00000168876		0.393	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD49	HGNC	protein_coding	OTTHUMT00000396314.2		0.00	17	0	A	NM_017704		94230120	+1	tier1		no_errors	ENST00000534911	ensembl	human	known	74_37	frame_shift_del	44.00	14	11	DEL	1.000	-
ANKRD50	57182	genome.wustl.edu	37	4	125593559	125593559	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:125593559C>T	ENST00000504087.1	-	4	1910	c.873G>A	c.(871-873)atG>atA	p.M291I	ANKRD50_ENST00000515641.1_Missense_Mutation_p.M112I	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	291										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GTTGATTTAACATCTCTGCAG	0.363																																																	0													71.0	67.0	69.0					4																	125593559		2203	4300	6503	SO:0001583	missense	0			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.873G>A	4.37:g.125593559C>T	ENSP00000425658:p.Met291Ile		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.M291I	ENST00000504087.1	37	c.873	CCDS34060.1	4	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538461	0.27475	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.64618	-0.11;-0.09	5.43	4.58	0.56647	.	0.043963	0.85682	D	0.000000	T	0.55529	0.1926	L	0.49350	1.555	0.49582	D	0.9998	B	0.30824	0.296	B	0.26094	0.066	T	0.53851	-0.8380	10	0.30078	T	0.28	.	15.8916	0.79303	0.1359:0.8641:0.0:0.0	.	291	Q9ULJ7	ANR50_HUMAN	I	291;112	ENSP00000425658:M291I;ENSP00000425355:M112I	ENSP00000425658:M291I	M	-	3	0	ANKRD50	125813009	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	3.559000	0.53756	1.498000	0.48600	0.650000	0.86243	ATG	ANKRD50	-	NULL	ENSG00000151458		0.363	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD50	HGNC	protein_coding	OTTHUMT00000364775.1	-	0.00	46	0	C	NM_020337		125593559	-1	tier1	-	no_errors	ENST00000504087	ensembl	human	known	74_37	missense	22.73	34	10	SNP	1.000	T
ANKS1A	23294	genome.wustl.edu	37	6	35051266	35051266	+	Missense_Mutation	SNP	G	G	A	rs201592159		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:35051266G>A	ENST00000360359.3	+	20	3118	c.2980G>A	c.(2980-2982)Gat>Aat	p.D994N	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	994	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CAAGTTCATCGATGCCTCCAA	0.557																																																	0								G	ASN/ASP	0,4406		0,0,2203	206.0	159.0	175.0		2980	4.9	1.0	6		175	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANKS1A	NM_015245.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	994/1135	35051266	1,13005	2203	4300	6503	SO:0001583	missense	0			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2980G>A	6.37:g.35051266G>A	ENSP00000353518:p.Asp994Asn		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt	p.D994N	ENST00000360359.3	37	c.2980	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934171	0.92458	0.0	1.16E-4	ENSG00000064999	ENST00000360359;ENST00000373990	T	0.15603	2.41	4.86	4.86	0.63082	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.47852	D	0.000210	T	0.28499	0.0705	L	0.52905	1.665	0.80722	D	1	D;P;D	0.89917	0.97;0.932;1.0	P;P;D	0.91635	0.663;0.545;0.999	T	0.01397	-1.1365	10	0.35671	T	0.21	-13.7028	18.0077	0.89214	0.0:0.0:1.0:0.0	.	320;320;994	Q49AR9;E7EM84;Q92625	.;.;ANS1A_HUMAN	N	994;320	ENSP00000353518:D994N	ENSP00000353518:D994N	D	+	1	0	ANKS1A	35159244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.842000	0.99487	2.252000	0.74401	0.655000	0.94253	GAT	ANKS1A	-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000064999		0.557	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1	-	0.00	40	0	G	XM_166478		35051266	+1	tier1	rs201592159	no_errors	ENST00000360359	ensembl	human	known	74_37	missense	51.85	13	14	SNP	1.000	A
ANO1	55107	genome.wustl.edu	37	11	70009451	70009451	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:70009451C>T	ENST00000355303.5	+	19	2255				ANO1_ENST00000530676.1_Intron|ANO1_ENST00000398543.2_Intron|ANO1_ENST00000531349.1_Intron|ANO1_ENST00000538023.1_Intron|ANO1_ENST00000316296.5_Missense_Mutation_p.T594I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GAAGAGGTAACCGAAATTTTA	0.488																																																	0													67.0	69.0	68.0					11																	70009451		1935	4139	6074	SO:0001627	intron_variant	0			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1950+5C>T	11.37:g.70009451C>T			A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	pfam_Anoctamin	p.T594I	ENST00000355303.5	37	c.1781	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	C	8.383	0.838001	0.16891	.	.	ENSG00000131620	ENST00000316296	T	0.59906	0.23	3.84	-7.68	0.01268	.	.	.	.	.	T	0.35770	0.0943	.	.	.	0.21878	N	0.999499	B	0.06786	0.001	B	0.04013	0.001	T	0.23084	-1.0198	7	.	.	.	.	10.9319	0.47222	0.0:0.1646:0.5124:0.323	.	594	Q5XXA6-3	.	I	594	ENSP00000319477:T594I	.	T	+	2	0	ANO1	69687099	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.295000	0.02764	-3.130000	0.00236	-0.211000	0.12701	ACC	ANO1	-	NULL	ENSG00000131620		0.488	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1	-	0.00	50	0	C	NM_018043		70009451	+1	tier1	-	no_errors	ENST00000316296	ensembl	human	known	74_37	missense	40.00	18	12	SNP	0.000	T
ANO2	57101	genome.wustl.edu	37	12	5687598	5687598	+	Silent	SNP	G	G	T	rs189494523	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:5687598G>T	ENST00000356134.5	-	23	2394	c.2323C>A	c.(2323-2325)Cgg>Agg	p.R775R	ANO2_ENST00000327087.8_Silent_p.R774R|ANO2_ENST00000546188.1_Silent_p.R775R	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	779					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCATCGAGCCGCACTTCAATG	0.547																																																	0													75.0	80.0	78.0					12																	5687598		2020	4174	6194	SO:0001819	synonymous_variant	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2323C>A	12.37:g.5687598G>T			C4N787|Q9H847	Silent	SNP	pfam_Anoctamin	p.R775	ENST00000356134.5	37	c.2323		12																																																																																			ANO2	-	pfam_Anoctamin	ENSG00000047617		0.547	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	-	0.00	49	0	G	NM_020373		5687598	-1	tier1	-	no_errors	ENST00000356134	ensembl	human	known	74_37	silent	61.76	39	63	SNP	0.981	T
ANO9	338440	genome.wustl.edu	37	11	428562	428562	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:428562G>A	ENST00000332826.6	-	13	1182	c.1098C>T	c.(1096-1098)gcC>gcT	p.A366A		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	366					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GGAAGGGCACGGCCGAGCTGC	0.662																																																	0													28.0	31.0	30.0					11																	428562		2194	4286	6480	SO:0001819	synonymous_variant	0			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1098C>T	11.37:g.428562G>A			B3KUC4|B4E134|Q8TEN4	Silent	SNP	pfam_Anoctamin	p.A366	ENST00000332826.6	37	c.1098	CCDS31326.1	11																																																																																			ANO9	-	pfam_Anoctamin	ENSG00000185101		0.662	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO9	HGNC	protein_coding	OTTHUMT00000384116.1	-	0.00	57	0	G	NM_001012302		428562	-1	tier1	-	no_errors	ENST00000332826	ensembl	human	known	74_37	silent	30.95	29	13	SNP	0.000	A
ANP32A	8125	genome.wustl.edu	37	15	69072248	69072248	+	3'UTR	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:69072248G>A	ENST00000465139.2	-	0	1065				ANP32A_ENST00000483551.2_5'Flank	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A						gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						ACCCCCACCCGCCATCCCTCC	0.468																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"""ANP32 acidic nuclear phosphoproteins"""	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.*172C>T	15.37:g.69072248G>A			B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	RNA	SNP	-	NULL	ENST00000465139.2	37	NULL	CCDS45292.1	15																																																																																			ANP32A	-	-	ENSG00000140350		0.468	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32A	HGNC	protein_coding	OTTHUMT00000335525.2	-	0.00	10	0	G			69072248	-1	tier1	-	no_errors	ENST00000267918	ensembl	human	known	74_37	rna	62.50	3	5	SNP	0.981	A
ANP32BP1	646791	genome.wustl.edu	37	15	75614855	75614855	+	RNA	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:75614855C>A	ENST00000564205.1	-	0	179									acidic (leucine-rich) nuclear phosphoprotein 32 family, member B pseudogene 1																		GTCCATGTTCCCCTCTTCCCC	0.562																																																	0																																												0					15q24.2	2014-02-12			ENSG00000259790	ENSG00000259790			24267	pseudogene	pseudogene							Standard	NG_022900		Approved				OTTHUMG00000172674		15.37:g.75614855C>A				RNA	SNP	-	NULL	ENST00000564205.1	37	NULL		15																																																																																			ANP32BP1	-	-	ENSG00000259790		0.562	ANP32BP1-002	KNOWN	basic	processed_transcript	ANP32BP1	HGNC	pseudogene	OTTHUMT00000419801.1	-	0.00	101	0	C			75614855	-1	tier1	-	no_errors	ENST00000564205	ensembl	human	known	74_37	rna	40.21	58	39	SNP	0.670	A
ANXA9	8416	genome.wustl.edu	37	1	150955885	150955885	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:150955885G>T	ENST00000368947.4	+	4	623	c.147G>T	c.(145-147)agG>agT	p.R49S	ANXA9_ENST00000474997.1_3'UTR	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	49					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGCGCAGAGGCTACTGAGGG	0.597																																																	0													56.0	42.0	47.0					1																	150955885		2203	4300	6503	SO:0001583	missense	0			AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.147G>T	1.37:g.150955885G>T	ENSP00000357943:p.Arg49Ser		Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Missense_Mutation	SNP	pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXXXI	p.R49S	ENST00000368947.4	37	c.147	CCDS975.2	1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628644	0.28978	.	.	ENSG00000143412	ENST00000368947	T	0.03386	3.95	5.06	3.13	0.36017	.	0.185143	0.47455	D	0.000237	T	0.01870	0.0059	L	0.56124	1.755	0.33746	D	0.620051	P	0.43938	0.822	B	0.40825	0.341	T	0.50398	-0.8833	10	0.44086	T	0.13	.	7.1974	0.25860	0.2092:0.0:0.7908:0.0	.	49	O76027	ANXA9_HUMAN	S	49	ENSP00000357943:R49S	ENSP00000357943:R49S	R	+	3	2	ANXA9	149222509	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	0.929000	0.28844	1.342000	0.45619	0.563000	0.77884	AGG	ANXA9	-	pfam_Annexin_repeat,prints_AnnexinXXXI	ENSG00000143412		0.597	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA9	HGNC	protein_coding	OTTHUMT00000084895.2	-	0.00	41	0	G	NM_003568		150955885	+1	tier1	-	no_errors	ENST00000368947	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
AOC2	314	genome.wustl.edu	37	17	40996995	40996995	+	Missense_Mutation	SNP	C	C	T	rs200726584		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:40996995C>T	ENST00000253799.3	+	1	379	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	AOC2_ENST00000452774.2_Missense_Mutation_p.R118W	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	118					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCCACCTGCCCGGGAGGCACT	0.667																																																	0													28.0	31.0	30.0					17																	40996995		2202	4295	6497	SO:0001583	missense	0			AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.352C>T	17.37:g.40996995C>T	ENSP00000253799:p.Arg118Trp		A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.R118W	ENST00000253799.3	37	c.352	CCDS11443.1	17	.	.	.	.	.	.	.	.	.	.	C	11.49	1.655498	0.29425	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.77620	-1.11;-1.11	5.01	2.98	0.34508	Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);Copper amine oxidase, N2-terminal (1);	0.059412	0.64402	D	0.000005	D	0.87884	0.6290	M	0.89601	3.045	0.53005	D	0.999964	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86816	0.2001	10	0.87932	D	0	-45.3085	7.473	0.27359	0.4151:0.5091:0.0:0.0758	.	118;118	O75106;O75106-2	AOC2_HUMAN;.	W	118	ENSP00000253799:R118W;ENSP00000406134:R118W	ENSP00000253799:R118W	R	+	1	2	AOC2	38250521	0.193000	0.23313	0.992000	0.48379	0.083000	0.17756	0.703000	0.25646	0.667000	0.31107	-0.251000	0.11542	CGG	AOC2	-	pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	ENSG00000131480		0.667	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC2	HGNC	protein_coding	OTTHUMT00000452442.1	-	0.00	80	0	C	NM_009590, NM_001158		40996995	+1	tier1	rs200726584	no_errors	ENST00000253799	ensembl	human	known	74_37	missense	38.64	27	17	SNP	0.999	T
AP1M1	8907	genome.wustl.edu	37	19	16314384	16314384	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:16314384delG	ENST00000291439.3	+	2	606	c.157delG	c.(157-159)gggfs	p.G54fs	AP1M1_ENST00000429941.2_Frame_Shift_Del_p.G54fs|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000590756.1_Intron|AP1M1_ENST00000444449.2_Frame_Shift_Del_p.G54fs	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	54					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CCTGGCCCACGGGGGGGTCCG	0.592																																																	0													95.0	86.0	89.0					19																	16314384		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.157delG	19.37:g.16314384delG	ENSP00000291439:p.Gly54fs		Q4TTY5	Frame_Shift_Del	DEL	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.V55fs	ENST00000291439.3	37	c.157	CCDS12342.1	19																																																																																			AP1M1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu	ENSG00000072958		0.592	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1M1	HGNC	protein_coding	OTTHUMT00000460492.1		0.00	79	0	G	NM_032493		16314384	+1	tier1		no_errors	ENST00000444449	ensembl	human	known	74_37	frame_shift_del	27.59	63	24	DEL	1.000	-
AP3B1	8546	genome.wustl.edu	37	5	77334907	77334907	+	Frame_Shift_Del	DEL	T	T	-	rs201179527	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:77334907delT	ENST00000255194.6	-	23	2944	c.2769delA	c.(2767-2769)aaafs	p.K923fs	AP3B1_ENST00000523204.1_5'UTR|AP3B1_ENST00000519295.1_Frame_Shift_Del_p.K874fs	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	923					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)	p.K923fs*4(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CTATAGGAAGTTTTTTTTCCC	0.289									Hermansky-Pudlak syndrome																																								1	Deletion - Frameshift(1)	large_intestine(1)											103.0	98.0	100.0					5																	77334907		2203	4299	6502	SO:0001589	frameshift_variant	0	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.2769delA	5.37:g.77334907delT	ENSP00000255194:p.Lys923fs		E5RJ68|O00580|Q7Z393|Q9HD66	Frame_Shift_Del	DEL	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta	p.K923fs	ENST00000255194.6	37	c.2769	CCDS4041.1	5																																																																																			AP3B1	-	pirsf_AP3_beta	ENSG00000132842		0.289	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2		0.00	69	0	T			77334907	-1	tier1		no_errors	ENST00000255194	ensembl	human	known	74_37	frame_shift_del	30.12	58	25	DEL	0.419	-
AP4B1	10717	genome.wustl.edu	37	1	114438761	114438761	+	Intron	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:114438761A>G	ENST00000369569.1	-	9	1791				AP4B1_ENST00000256658.4_Intron|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000462591.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGAGGAAAACCTAGGAAGC	0.378																																																	0																																										SO:0001627	intron_variant	0			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.1511-101T>C	1.37:g.114438761A>G			B7Z4X3|Q59EJ4|Q96CL6	RNA	SNP	-	NULL	ENST00000369569.1	37	NULL	CCDS865.1	1																																																																																			AP4B1	-	-	ENSG00000134262		0.378	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1	-	0.00	17	0	A	NM_006594		114438761	-1	tier1	-	no_errors	ENST00000479285	ensembl	human	known	74_37	rna	50.00	14	14	SNP	0.000	G
APAF1	317	genome.wustl.edu	37	12	99109237	99109237	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:99109237G>A	ENST00000551964.1	+	22	3727	c.2991G>A	c.(2989-2991)caG>caA	p.Q997Q	APAF1_ENST00000357310.1_Silent_p.Q954Q|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000547045.1_Silent_p.Q954Q|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Silent_p.Q986Q|APAF1_ENST00000359972.2_Silent_p.Q943Q|APAF1_ENST00000339433.3_Silent_p.Q954Q|APAF1_ENST00000549007.1_Silent_p.Q954Q	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	997					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GAATCTTCCAGTCCAGGTTTC	0.373																																																	0													88.0	80.0	83.0					12																	99109237		2203	4300	6503	SO:0001819	synonymous_variant	0			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2991G>A	12.37:g.99109237G>A			B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.Q997	ENST00000551964.1	37	c.2991	CCDS9069.1	12																																																																																			APAF1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat_dom	ENSG00000120868		0.373	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	-	0.00	61	0	G	NM_181861.1		99109237	+1	tier1	-	no_errors	ENST00000551964	ensembl	human	known	74_37	silent	30.19	37	16	SNP	0.011	A
ANKS1B	56899	genome.wustl.edu	37	12	99128498	99128498	+	IGR	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:99128498G>A	ENST00000547776.2	-	0	3885				APAF1_ENST00000357310.1_3'UTR|APAF1_ENST00000333991.1_3'UTR|APAF1_ENST00000550527.1_3'UTR|APAF1_ENST00000359972.2_3'UTR|APAF1_ENST00000339433.3_3'UTR|APAF1_ENST00000547666.1_3'UTR|ANKS1B_ENST00000341752.7_3'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CAGGCTTACTGTGATTTAAGC	0.299																																																	0																																										SO:0001628	intergenic_variant	0			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8			12.37:g.99128498G>A			A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	RNA	SNP	-	NULL	ENST00000547776.2	37	NULL	CCDS55872.1	12																																																																																			APAF1	-	-	ENSG00000120868		0.299	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408421.3	-	0.00	108	0	G	NM_020140		99128498	+1	tier1	-	no_errors	ENST00000547666	ensembl	human	putative	74_37	rna	31.58	77	36	SNP	1.000	A
APBB1	322	genome.wustl.edu	37	11	6422905	6422905	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:6422905C>T	ENST00000609360.1	-	10	1501	c.1402G>A	c.(1402-1404)Gta>Ata	p.V468I	APBB1_ENST00000389906.2_Missense_Mutation_p.V468I|APBB1_ENST00000299402.6_Missense_Mutation_p.V466I|APBB1_ENST00000530885.1_Missense_Mutation_p.V246I|APBB1_ENST00000608645.1_Missense_Mutation_p.V209I|APBB1_ENST00000608394.1_Missense_Mutation_p.V209I|APBB1_ENST00000609331.1_Missense_Mutation_p.V233I|APBB1_ENST00000529519.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.V466I|APBB1_ENST00000608704.1_Missense_Mutation_p.V209I|APBB1_ENST00000608655.1_Missense_Mutation_p.V248I	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	468	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TCACGAGCTACGTAGGCAAAG	0.592																																					GBM(147;1810 2556 5672 39622)												0													160.0	111.0	128.0					11																	6422905		2201	4296	6497	SO:0001583	missense	0			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1402G>A	11.37:g.6422905C>T	ENSP00000477213:p.Val468Ile		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom	p.V468I	ENST00000609360.1	37	c.1402		11	.	.	.	.	.	.	.	.	.	.	C	14.01	2.406969	0.42715	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.09163	3.01;3.01;3.01;3.01;3.01	4.15	3.22	0.36961	.	0.000000	0.64402	D	0.000010	T	0.23572	0.0570	L	0.61036	1.89	0.51233	D	0.999916	D;B;B	0.71674	0.998;0.109;0.051	D;B;B	0.76071	0.987;0.057;0.063	T	0.01093	-1.1454	10	0.45353	T	0.12	-3.7051	5.5809	0.17248	0.0:0.6859:0.205:0.1091	.	71;246;466	B7Z4M4;B7Z2Y0;O00213-2	.;.;.	I	466;466;468;317;209;233;246;207	ENSP00000299402:V466I;ENSP00000311912:V466I;ENSP00000374556:V468I;ENSP00000433338:V246I;ENSP00000437114:V207I	ENSP00000299402:V466I	V	-	1	0	APBB1	6379481	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.425000	0.80255	0.929000	0.37192	0.591000	0.81541	GTA	APBB1	-	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom	ENSG00000166313		0.592	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	APBB1	HGNC	protein_coding	OTTHUMT00000471831.1	-	0.00	70	0	C	NM_001164		6422905	-1	tier1	-	no_errors	ENST00000389906	ensembl	human	known	74_37	missense	44.83	32	26	SNP	1.000	T
APC	324	genome.wustl.edu	37	5	112043282	112043283	+	5'UTR	INS	-	-	G	rs79896135|rs371478422|rs182500056|rs565045828	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:112043282_112043283insG	ENST00000457016.1	+	0	65_66				APC_ENST00000505350.1_3'UTR			P25054	APC_HUMAN	adenomatous polyposis coli						anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGCCGCTGCTCGGGGGGGACCT	0.653		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	0																																										SO:0001623	5_prime_UTR_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.-315->G	5.37:g.112043289_112043289dupG			D3DT03|Q15162|Q15163|Q93042	RNA	INS	-	NULL	ENST00000457016.1	37	NULL	CCDS4107.1	5																																																																																			APC	-	-	ENSG00000134982		0.653	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0.00	19	0	-	NM_000038		112043283	+1	tier1		no_errors	ENST00000505350	ensembl	human	putative	74_37	rna	35.29	11	6	INS	0.028:0.026	G
APC	324	genome.wustl.edu	37	5	112154722	112154722	+	Silent	SNP	G	G	A	rs148343173		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:112154722G>A	ENST00000457016.1	+	10	1373	c.993G>A	c.(991-993)tcG>tcA	p.S331S	APC_ENST00000257430.4_Silent_p.S331S|APC_ENST00000508376.2_Silent_p.S331S			P25054	APC_HUMAN	adenomatous polyposis coli	331	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATGATATGTCGCGAACTTTGC	0.418		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	0								G	,,	2,4402	4.2+/-10.8	0,2,2200	194.0	169.0	178.0		993,993,939	-4.2	1.0	5	dbSNP_134	178	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	APC	NM_000038.5,NM_001127510.2,NM_001127511.2	,,	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	,,	331/2844,331/2844,313/2826	112154722	2,13002	2202	4300	6502	SO:0001819	synonymous_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.993G>A	5.37:g.112154722G>A			D3DT03|Q15162|Q15163|Q93042	Silent	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S331	ENST00000457016.1	37	c.993	CCDS4107.1	5																																																																																			APC	-	NULL	ENSG00000134982		0.418	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	-	0.00	60	0	G	NM_000038		112154722	+1	tier1	rs148343173	no_errors	ENST00000257430	ensembl	human	known	74_37	silent	35.09	37	20	SNP	0.109	A
APLNR	187	genome.wustl.edu	37	11	57003870	57003870	+	Silent	SNP	G	G	T	rs568430607		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:57003870G>T	ENST00000606794.1	-	1	805	c.609C>A	c.(607-609)gtC>gtA	p.V203V		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	203					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGTGGACGAGACCCCAAGGC	0.592																																																	0													123.0	101.0	108.0					11																	57003870		2201	4296	6497	SO:0001819	synonymous_variant	0			U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.609C>A	11.37:g.57003870G>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt	p.V203	ENST00000606794.1	37	c.609	CCDS7950.1	11																																																																																			APLNR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt	ENSG00000134817		0.592	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	APLNR	HGNC	protein_coding	OTTHUMT00000470575.1	-	0.00	55	0	G	NM_005161		57003870	-1	tier1	-	no_errors	ENST00000257254	ensembl	human	known	74_37	silent	13.79	25	4	SNP	0.871	T
APOBEC3D	140564	genome.wustl.edu	37	22	39421260	39421260	+	Silent	SNP	C	C	T	rs368364402		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:39421260C>T	ENST00000216099.8	+	3	803	c.396C>T	c.(394-396)gcC>gcT	p.A132A	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.A132A	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	132					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CCATCTCTGCCGCCCGCCTCT	0.562																																																	0													67.0	69.0	69.0					22																	39421260		2203	4300	6503	SO:0001819	synonymous_variant	0			BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.396C>T	22.37:g.39421260C>T			Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.A132	ENST00000216099.8	37	c.396	CCDS46709.1	22																																																																																			APOBEC3D	-	pfam_APOBEC_N,superfamily_Cytidine_deaminase-like	ENSG00000243811		0.562	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3D	HGNC	protein_coding	OTTHUMT00000321232.2	-	0.00	66	0	C	NM_152426		39421260	+1	tier1	-	no_errors	ENST00000216099	ensembl	human	known	74_37	silent	42.03	39	29	SNP	0.032	T
APOBR	55911	genome.wustl.edu	37	16	28507636	28507636	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:28507636C>T	ENST00000431282.1	+	3	1257	c.1247C>T	c.(1246-1248)cCc>cTc	p.P416L	APOBR_ENST00000564831.1_Missense_Mutation_p.P425L|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.P416L|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	416	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGCCCTTTCCCCAAACAGCCC	0.617																																																	0													39.0	44.0	42.0					16																	28507636		1993	4165	6158	SO:0001583	missense	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1247C>T	16.37:g.28507636C>T	ENSP00000416094:p.Pro416Leu		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.P425L	ENST00000431282.1	37	c.1274		16	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346626	0.41599	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.75367	-0.93;-0.93	3.7	-5.76	0.02376	.	.	.	.	.	T	0.53254	0.1785	L	0.32530	0.975	0.09310	N	1	B	0.17465	0.022	B	0.15484	0.013	T	0.38067	-0.9678	9	0.46703	T	0.11	4.564	0.5965	0.00737	0.3947:0.1831:0.1195:0.3027	.	416	Q9NS13	.	L	416	ENSP00000327669:P416L;ENSP00000416094:P416L	ENSP00000327669:P416L	P	+	2	0	APOBR	28415137	0.000000	0.05858	0.000000	0.03702	0.947000	0.59692	-0.059000	0.11731	-1.350000	0.02199	0.509000	0.49947	CCC	APOBR	-	NULL	ENSG00000184730		0.617	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		-	0.00	29	0	C	NM_182804		28507636	+1	tier1	-	no_errors	ENST00000564831	ensembl	human	known	74_37	missense	42.86	20	15	SNP	0.000	T
APOC1	341	genome.wustl.edu	37	19	45419665	45419666	+	Intron	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:45419665_45419666insA	ENST00000588750.1	+	4	519				APOC1_ENST00000586638.1_Intron|APOC1_ENST00000252491.4_Intron|APOC1_ENST00000592885.1_Frame_Shift_Ins_p.E93fs|APOC1_ENST00000588802.1_Intron|APOC1_ENST00000589781.1_Intron			P02654	APOC1_HUMAN	apolipoprotein C-I						cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phosphatidylcholine catabolic process (GO:0010900)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|plasma lipoprotein particle remodeling (GO:0034369)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|regulation of cholesterol transport (GO:0032374)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)|very-low-density lipoprotein particle clearance (GO:0034447)	chylomicron (GO:0042627)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	fatty acid binding (GO:0005504)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipase inhibitor activity (GO:0004859)			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		TGAACAGATTGAAAAAAAAACA	0.52																																																	0																																										SO:0001627	intron_variant	0			X00570	CCDS12648.1	19q13.2	2013-01-24				ENSG00000130208		"""Apolipoproteins"""	607	protein-coding gene	gene with protein product		107710					Standard	NM_001645		Approved		uc002pae.1	P02654		ENST00000588750.1:c.194+83->A	19.37:g.45419674_45419674dupA			B2R526|Q6IB97	Frame_Shift_Ins	INS	pfam_ApoC-I	p.T96fs	ENST00000588750.1	37	c.277_278	CCDS12648.1	19																																																																																			APOC1	-	NULL	ENSG00000130208		0.520	APOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOC1	HGNC	protein_coding	OTTHUMT00000453245.1		0.00	24	0	-			45419666	+1	tier1		no_errors	ENST00000592885	ensembl	human	novel	74_37	frame_shift_ins	29.63	19	8	INS	0.009:0.005	A
APPL1	26060	genome.wustl.edu	37	3	57276921	57276921	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:57276921delA	ENST00000288266.3	+	7	600	c.453delA	c.(451-453)tcafs	p.S151fs		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	151	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)	p.R154fs*6(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCCGTTTATCAAAAAAAAGAG	0.299																																																	1	Deletion - Frameshift(1)	large_intestine(1)											125.0	119.0	121.0					3																	57276921		2202	4300	6502	SO:0001589	frameshift_variant	0			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.453delA	3.37:g.57276921delA	ENSP00000288266:p.Ser151fs		Q9P2B9	Frame_Shift_Del	DEL	pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom	p.R154fs	ENST00000288266.3	37	c.453	CCDS2882.1	3																																																																																			APPL1	-	NULL	ENSG00000157500		0.299	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL1	HGNC	protein_coding	OTTHUMT00000258196.2		0.00	134	0	A	NM_012096		57276921	+1	tier1		no_errors	ENST00000288266	ensembl	human	known	74_37	frame_shift_del	33.12	103	51	DEL	0.881	-
APPL2	55198	genome.wustl.edu	37	12	105589058	105589059	+	Frame_Shift_Ins	INS	-	-	T	rs199942405|rs202240683	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:105589058_105589059insT	ENST00000258530.3	-	14	1446_1447	c.1221_1222insA	c.(1219-1224)aaacaafs	p.Q408fs	APPL2_ENST00000551662.1_Frame_Shift_Ins_p.Q414fs|APPL2_ENST00000539978.2_Frame_Shift_Ins_p.Q365fs|APPL2_ENST00000549573.1_5'Flank	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GAGCTTTCTTGTTTTTTTCCAA	0.416																																																	0																																										SO:0001589	frameshift_variant	0			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1222dupA	12.37:g.105589065_105589065dupT	ENSP00000258530:p.Gln408fs		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Frame_Shift_Ins	INS	pfam_PTB/PI_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom	p.Q413fs	ENST00000258530.3	37	c.1240_1239	CCDS9101.1	12																																																																																			APPL2	-	NULL	ENSG00000136044		0.416	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL2	HGNC	protein_coding	OTTHUMT00000406238.3		0.00	120	0	-	NM_018171		105589059	-1	tier1		no_errors	ENST00000551662	ensembl	human	known	74_37	frame_shift_ins	28.76	109	44	INS	0.817:0.836	T
APPL2	55198	genome.wustl.edu	37	12	105600899	105600899	+	Silent	SNP	C	C	T	rs551931048	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:105600899C>T	ENST00000258530.3	-	8	786	c.561G>A	c.(559-561)gcG>gcA	p.A187A	APPL2_ENST00000551662.1_Silent_p.A193A|APPL2_ENST00000539978.2_Silent_p.A144A|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTACTGCAGCGCGTTGAGGG	0.577													C|||	4	0.000798722	0.0008	0.0	5008	,	,		18814	0.0		0.0	False		,,,				2504	0.0031																0													106.0	90.0	95.0					12																	105600899		2203	4300	6503	SO:0001819	synonymous_variant	0			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.561G>A	12.37:g.105600899C>T			B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	pfam_PTB/PI_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom	p.A193	ENST00000258530.3	37	c.579	CCDS9101.1	12																																																																																			APPL2	-	NULL	ENSG00000136044		0.577	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPL2	HGNC	protein_coding	OTTHUMT00000406238.3	-	0.00	52	0	C	NM_018171		105600899	-1	tier1	-	no_errors	ENST00000551662	ensembl	human	known	74_37	silent	21.21	26	7	SNP	0.048	T
APRT	353	genome.wustl.edu	37	16	88876196	88876196	+	Silent	SNP	C	C	T	rs369507525		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:88876196C>T	ENST00000378364.3	-	5	497	c.453G>A	c.(451-453)ctG>ctA	p.L151L	APRT_ENST00000426324.2_Intron|APRT_ENST00000563655.1_Silent_p.L124L	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	151					adenine salvage (GO:0006168)|AMP salvage (GO:0044209)|cellular response to insulin stimulus (GO:0032869)|grooming behavior (GO:0007625)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	adenine binding (GO:0002055)|adenine phosphoribosyltransferase activity (GO:0003999)|AMP binding (GO:0016208)			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	TCACGCACTCCAGGACCTCAG	0.637																																																	0													66.0	61.0	63.0					16																	88876196		2197	4299	6496	SO:0001819	synonymous_variant	0				CCDS32511.1, CCDS45546.1	16q24	2012-10-02				ENSG00000198931	2.4.2.7		626	protein-coding gene	gene with protein product		102600					Standard	NM_000485		Approved		uc002flv.3	P07741		ENST00000378364.3:c.453G>A	16.37:g.88876196C>T			G5E9J2|Q3KP55|Q68DF9	Silent	SNP	pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans	p.L151	ENST00000378364.3	37	c.453	CCDS32511.1	16																																																																																			APRT	-	pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans	ENSG00000198931		0.637	APRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APRT	HGNC	protein_coding	OTTHUMT00000430000.2	-	0.00	45	0	C	NM_000485		88876196	-1	tier1	-	no_errors	ENST00000378364	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T
AQP10	89872	genome.wustl.edu	37	1	154296077	154296077	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:154296077G>T	ENST00000324978.3	+	5	542	c.502G>T	c.(502-504)Ggg>Tgg	p.G168W	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Missense_Mutation_p.G168W|ATP8B2_ENST00000368487.3_5'Flank	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	168					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCTGGGCACTGGGATGCTGAT	0.592																																																	0													128.0	136.0	133.0					1																	154296077		2203	4300	6503	SO:0001583	missense	0			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.502G>T	1.37:g.154296077G>T	ENSP00000318355:p.Gly168Trp		Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP	p.G168W	ENST00000324978.3	37	c.502	CCDS1065.1	1	.	.	.	.	.	.	.	.	.	.	G	6.180	0.401470	0.11696	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.85171	-1.95;-1.95	4.8	-1.24	0.09435	Aquaporin-like (2);	0.261596	0.36200	N	0.002726	T	0.61060	0.2317	L	0.41492	1.28	0.09310	N	1	B;B	0.19445	0.036;0.011	B;B	0.23574	0.047;0.023	T	0.58521	-0.7622	10	0.62326	D	0.03	.	7.6749	0.28480	0.0834:0.0:0.3604:0.5563	.	168;168	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	W	168	ENSP00000318355:G168W;ENSP00000420341:G168W	ENSP00000318355:G168W	G	+	1	0	AQP10	152562701	0.073000	0.21202	0.000000	0.03702	0.352000	0.29268	1.960000	0.40422	-0.412000	0.07519	0.555000	0.69702	GGG	AQP10	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	ENSG00000143595		0.592	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP10	HGNC	protein_coding	OTTHUMT00000087661.1	-	0.00	125	0	G	NM_080429		154296077	+1	tier1	-	no_errors	ENST00000324978	ensembl	human	known	74_37	missense	25.16	119	40	SNP	0.000	T
AQP12B	653437	genome.wustl.edu	37	2	241621696	241621696	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:241621696A>G	ENST00000407834.3	-	1	621	c.559T>C	c.(559-561)Tac>Cac	p.Y187H	AQP12B_ENST00000459806.1_5'Flank	NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	175						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGCCCGCTGTAGGCGGGAGGA	0.682																																																	0													4.0	4.0	4.0					2																	241621696		1068	2470	3538	SO:0001583	missense	0			BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"""Ion channels / Aquaporins"""	6096	protein-coding gene	gene with protein product			"""insulin synthesis associated 3"""	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.559T>C	2.37:g.241621696A>G	ENSP00000384894:p.Tyr187His		A4QPB9	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.Y187H	ENST00000407834.3	37	c.559	CCDS46560.1	2	.	.	.	.	.	.	.	.	.	.	.	1.075	-0.668653	0.03403	.	.	ENSG00000185176	ENST00000407834	T	0.43294	0.95	2.8	-3.12	0.05282	.	0.885755	0.10140	N	0.711012	T	0.26774	0.0655	L	0.33245	0.995	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.22871	-1.0204	10	0.26408	T	0.33	-12.055	8.2058	0.31454	0.5506:0.0:0.4494:0.0	.	187	A6NM10-2	.	H	187	ENSP00000384894:Y187H	ENSP00000384894:Y187H	Y	-	1	0	AQP12B	241270369	0.232000	0.23762	0.006000	0.13384	0.007000	0.05969	0.355000	0.20163	-0.609000	0.05724	-0.679000	0.03777	TAC	AQP12B	-	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12	ENSG00000185176		0.682	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP12B	HGNC	protein_coding	OTTHUMT00000325625.1	-	0.00	20	0	A			241621696	-1	tier1	-	no_errors	ENST00000407834	ensembl	human	known	74_37	missense	28.57	10	4	SNP	0.066	G
AQP12A	375318	genome.wustl.edu	37	2	241631890	241631890	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:241631890T>C	ENST00000337801.4	+	2	592	c.523T>C	c.(523-525)Tac>Cac	p.Y175H	AQP12A_ENST00000429564.1_Missense_Mutation_p.Y187H|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	175						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TCCTCCCGCCTACAGCGGGCC	0.682																																																	0													4.0	5.0	5.0					2																	241631890		1142	3095	4237	SO:0001583	missense	0			AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.523T>C	2.37:g.241631890T>C	ENSP00000337144:p.Tyr175His			Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.Y187H	ENST00000337801.4	37	c.559		2	.	.	.	.	.	.	.	.	.	.	.	0.298	-0.975652	0.02215	.	.	ENSG00000184945	ENST00000337801;ENST00000373309;ENST00000429564;ENST00000420599	D;T	0.92965	-3.14;0.95	2.5	-3.74	0.04385	Aquaporin-like (2);	0.885755	0.10140	N	0.711012	D	0.85839	0.5790	L	0.45581	1.43	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.69522	-0.5123	10	0.28530	T	0.3	-12.055	7.9477	0.29995	0.0:0.4636:0.0:0.5364	.	175	Q8IXF9	AQ12A_HUMAN	H	175;113;187;160	ENSP00000337144:Y175H;ENSP00000405899:Y187H	ENSP00000337144:Y175H	Y	+	1	0	AQP12A	241280563	0.003000	0.15002	0.001000	0.08648	0.115000	0.19883	0.204000	0.17335	-0.911000	0.03843	0.063000	0.15292	TAC	AQP12A	-	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12	ENSG00000184945		0.682	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	AQP12A	HGNC	protein_coding	OTTHUMT00000257185.2	-	0.00	39	0	T	NM_198998		241631890	+1	tier1	-	no_errors	ENST00000429564	ensembl	human	known	74_37	missense	16.67	30	6	SNP	0.018	C
AQP3	360	genome.wustl.edu	37	9	33443746	33443746	+	Intron	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:33443746G>T	ENST00000297991.4	-	2	316				AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)						excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		AGGGCTGGGGGCAGGGTTAAG	0.592																																																	0													49.0	44.0	45.0					9																	33443746		2203	4300	6503	SO:0001627	intron_variant	0				CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"""Ion channels / Aquaporins"", ""Blood group antigens"""	636	protein-coding gene	gene with protein product	"""Gill blood group"""	600170	"""aquaporin 3"", ""aquaporin 3 (GIL blood group)"""			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.235+17C>A	9.37:g.33443746G>T			A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	RNA	SNP	-	NULL	ENST00000297991.4	37	NULL	CCDS6542.1	9																																																																																			AQP3	-	-	ENSG00000165272		0.592	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	AQP3	HGNC	protein_coding	OTTHUMT00000052055.1	-	0.00	62	0	G	NM_004925		33443746	-1	tier1	-	no_errors	ENST00000493581	ensembl	human	known	74_37	rna	9.30	39	4	SNP	0.002	T
LVRN	206338	genome.wustl.edu	37	5	115327857	115327857	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:115327857G>T	ENST00000357872.4	+	5	1267	c.1143G>T	c.(1141-1143)atG>atT	p.M381I	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		381	Substrate binding. {ECO:0000250}.					integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										ACCATGCAATGGAAAACTGGG	0.333																																																	0													121.0	128.0	125.0					5																	115327857		2202	4300	6502	SO:0001583	missense	0																														ENST00000357872.4:c.1143G>T	5.37:g.115327857G>T	ENSP00000350541:p.Met381Ile		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.M381I	ENST00000357872.4	37	c.1143	CCDS4124.1	5	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875308	0.91664	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.05447	3.44	5.81	5.81	0.92471	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.120801	0.56097	D	0.000033	T	0.38612	0.1047	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51395	-0.8711	10	0.87932	D	0	.	18.8499	0.92224	0.0:0.0:1.0:0.0	.	381	Q6Q4G3	AMPQ_HUMAN	I	381;370	ENSP00000350541:M381I	ENSP00000350541:M381I	M	+	3	0	AC010282.1	115355756	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.092000	0.94157	2.736000	0.93811	0.655000	0.94253	ATG	AQPEP	-	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	ENSG00000172901		0.333	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_gn	protein_coding	OTTHUMT00000250852.1	-	0.00	33	0	G			115327857	+1	tier1	-	no_errors	ENST00000357872	ensembl	human	known	74_37	missense	13.89	31	5	SNP	1.000	T
ARAP2	116984	genome.wustl.edu	37	4	36160352	36160352	+	Splice_Site	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:36160352C>A	ENST00000303965.4	-	15	3241	c.2752G>T	c.(2752-2754)Gag>Tag	p.E918*		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	918	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GAAAAAATACCTTCAAGCAGT	0.303																																																	0													21.0	24.0	23.0					4																	36160352		2193	4296	6489	SO:0001630	splice_region_variant	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.2752+1G>T	4.37:g.36160352C>A			Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.E918*	ENST00000303965.4	37	c.2752	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	C	46	12.666139	0.99687	.	.	ENSG00000047365	ENST00000303965	.	.	.	6.17	6.17	0.99709	.	0.186447	0.47093	D	0.000246	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0599	0.93085	0.0:1.0:0.0:0.0	.	.	.	.	X	918	.	.	E	-	1	0	ARAP2	35836747	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	2.649000	0.46656	2.941000	0.99782	0.655000	0.94253	GAG	ARAP2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000047365		0.303	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	-	0.00	45	0	C	NM_015230	Nonsense_Mutation	36160352	-1	tier1	-	no_errors	ENST00000303965	ensembl	human	known	74_37	nonsense	33.33	20	10	SNP	1.000	A
ARAP2	116984	genome.wustl.edu	37	4	36212270	36212270	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:36212270G>T	ENST00000303965.4	-	6	1718	c.1229C>A	c.(1228-1230)gCt>gAt	p.A410D		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	410					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGATTCAGAAGCAGTGTCTAT	0.343																																																	0													125.0	132.0	130.0					4																	36212270		2203	4300	6503	SO:0001583	missense	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1229C>A	4.37:g.36212270G>T	ENSP00000302895:p.Ala410Asp		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.A410D	ENST00000303965.4	37	c.1229	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960356	0.34565	.	.	ENSG00000047365	ENST00000303965	T	0.09911	2.93	5.6	4.75	0.60458	.	0.412070	0.25377	N	0.031111	T	0.13756	0.0333	M	0.62723	1.935	0.30102	N	0.807325	B;B	0.18741	0.03;0.001	B;B	0.21151	0.033;0.003	T	0.05007	-1.0912	10	0.26408	T	0.33	.	13.2121	0.59830	0.0:0.0:0.8405:0.1595	.	340;410	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	D	410	ENSP00000302895:A410D	ENSP00000302895:A410D	A	-	2	0	ARAP2	35888665	1.000000	0.71417	0.790000	0.31976	0.786000	0.44442	3.118000	0.50414	1.350000	0.45770	0.585000	0.79938	GCT	ARAP2	-	NULL	ENSG00000047365		0.343	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	-	0.00	47	0	G	NM_015230		36212270	-1	tier1	-	no_errors	ENST00000303965	ensembl	human	known	74_37	missense	6.35	58	4	SNP	0.967	T
ARAP3	64411	genome.wustl.edu	37	5	141052865	141052866	+	Intron	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:141052865_141052866insC	ENST00000239440.4	-	6	1038				ARAP3_ENST00000508305.1_Intron|ARAP3_ENST00000513878.1_5'Flank	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3						cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCAGTCACTGCCCCGCCCACA	0.525																																																	0																																										SO:0001627	intron_variant	0			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.972+101->G	5.37:g.141052869_141052869dupC			B4DIT1|D3DQE3	RNA	INS	-	NULL	ENST00000239440.4	37	NULL	CCDS4266.1	5																																																																																			ARAP3	-	-	ENSG00000120318		0.525	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1		0.00	18	0	-	NM_022481		141052866	-1	tier1		no_errors	ENST00000524066	ensembl	human	putative	74_37	rna	19.05	17	4	INS	0.000:0.001	C
ARFGEF1	10565	genome.wustl.edu	37	8	68113742	68113742	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:68113742G>A	ENST00000262215.3	-	37	5616	c.5227C>T	c.(5227-5229)Cgc>Tgc	p.R1743C	ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.R581C|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R1197C	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1743					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCACTAACGCGGCTCTCATCC	0.547																																																	0													82.0	74.0	77.0					8																	68113742		2203	4300	6503	SO:0001583	missense	0			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.5227C>T	8.37:g.68113742G>A	ENSP00000262215:p.Arg1743Cys		Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.R1743C	ENST00000262215.3	37	c.5227	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475915	0.84640	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518789;ENST00000518230	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.42	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	M	0.69823	2.125	0.80722	D	1	D;D;P;D	0.89917	1.0;0.999;0.5;0.999	D;P;B;P	0.63488	0.915;0.776;0.102;0.841	T	0.70876	-0.4753	10	0.87932	D	0	.	15.057	0.71921	0.0:0.0:0.8524:0.1476	.	1743;1221;567;1197	Q9Y6D6;Q59FY5;B3KMS9;E5RIF2	BIG1_HUMAN;.;.;.	C	1197;1743;74;581	ENSP00000428429:R1197C;ENSP00000262215:R1743C;ENSP00000429560:R74C;ENSP00000430891:R581C	ENSP00000262215:R1743C	R	-	1	0	ARFGEF1	68276296	1.000000	0.71417	0.990000	0.47175	0.910000	0.53928	4.568000	0.60857	1.372000	0.46190	0.650000	0.86243	CGC	ARFGEF1	-	NULL	ENSG00000066777		0.547	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	-	0.00	59	0	G	NM_006421		68113742	-1	tier1	-	no_errors	ENST00000262215	ensembl	human	known	74_37	missense	28.77	52	21	SNP	1.000	A
ARFIP1	27236	genome.wustl.edu	37	4	153833145	153833145	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:153833145delA	ENST00000451320.2	+	0	3060							P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1						intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TCTGAACCTTAAAAAAAAAGG	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"""arfaptin 1"""	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.*1774A>-	4.37:g.153833145delA			Q2M2X4|Q3SYL4|Q9Y2X6	RNA	DEL	-	NULL	ENST00000451320.2	37	NULL	CCDS34080.1	4																																																																																			ARFIP1	-	-	ENSG00000164144		0.323	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFIP1	HGNC	protein_coding	OTTHUMT00000365032.1		0.00	23	0	A	NM_014447		153833145	+1	tier1		no_errors	ENST00000510497	ensembl	human	known	74_37	rna	43.75	18	14	DEL	0.000	-
ARG1	383	genome.wustl.edu	37	6	131894346	131894346	+	5'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:131894346delA	ENST00000368087.3	+	0	63				ARG1_ENST00000356962.2_5'Flank			P05089	ARGI1_HUMAN	arginase 1						arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|liver development (GO:0001889)|lung development (GO:0030324)|mammary gland involution (GO:0060056)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of endothelial cell proliferation (GO:0001938)|protein homotrimerization (GO:0070207)|regulation of L-arginine import (GO:0010963)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to herbicide (GO:0009635)|response to manganese ion (GO:0010042)|response to methylmercury (GO:0051597)|response to selenium ion (GO:0010269)|response to vitamin A (GO:0033189)|response to vitamin E (GO:0033197)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	arginase activity (GO:0004053)|manganese ion binding (GO:0030145)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	GTATAAATGGAAAAAAAAGAT	0.443																																																	0																																										SO:0001623	5_prime_UTR_variant	0				CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	3.5.3.1		663	protein-coding gene	gene with protein product		608313	"""arginase, liver"""			22959135	Standard	NM_000045		Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.-77A>-	6.37:g.131894346delA			A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	RNA	DEL	-	NULL	ENST00000368087.3	37	NULL	CCDS5145.1	6																																																																																			ARG1	-	-	ENSG00000118520		0.443	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARG1	HGNC	protein_coding	OTTHUMT00000042223.1		0.00	23	0	A			131894346	+1	tier1		no_errors	ENST00000469293	ensembl	human	known	74_37	rna	33.33	16	8	DEL	0.285	-
ARGLU1	55082	genome.wustl.edu	37	13	107196174	107196177	+	3'UTR	DEL	AAAA	AAAA	-	rs561134219|rs398024313|rs11349875	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:107196174_107196177delAAAA	ENST00000400198.3	-	0	1233_1236				ARGLU1_ENST00000375926.1_3'UTR|ARGLU1_ENST00000472226.1_5'UTR	NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TAGTGGAAGGAAAAAAAAAAAAAA	0.319																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC071587	CCDS41906.1	13q33.3	2011-10-03	2007-11-28		ENSG00000134884	ENSG00000134884			25482	protein-coding gene	gene with protein product		614046				21454576	Standard	NM_018011		Approved	FLJ10154	uc001vqk.4	Q9NWB6	OTTHUMG00000017321	ENST00000400198.3:c.*170TTTT>-	13.37:g.107196182_107196185delAAAA			B4E0Y3|Q5T257|Q6IQ34	RNA	DEL	-	NULL	ENST00000400198.3	37	NULL	CCDS41906.1	13																																																																																			ARGLU1	-	-	ENSG00000134884		0.319	ARGLU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGLU1	HGNC	protein_coding	OTTHUMT00000045727.1		0.00	13	0	AAAA	NM_018011		107196177	-1	tier1		no_errors	ENST00000472226	ensembl	human	known	74_37	rna	12.00	22	3	DEL	0.001:0.246:0.234:0.000	-
ARHGAP23	57636	genome.wustl.edu	37	17	36623506	36623506	+	Missense_Mutation	SNP	C	C	T	rs567680040		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:36623506C>T	ENST00000431231.2	+	7	1650	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	ARHGAP23_ENST00000443378.1_Missense_Mutation_p.R434C|ARHGAP23_ENST00000437668.3_Missense_Mutation_p.R528C	NM_001199417.1	NP_001186346.1	Q9P227	RHG23_HUMAN	Rho GTPase activating protein 23	528					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2)	20						GCGAGGGGAACGCCTGGGCAG	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18215	0.0		0.0	False		,,,				2504	0.0																0													47.0	46.0	46.0					17																	36623506		692	1591	2283	SO:0001583	missense	0			AB040934	CCDS56027.1	17q12	2014-05-06			ENSG00000225485	ENSG00000275832		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	29293	protein-coding gene	gene with protein product		610590				10819331, 15254754	Standard	NM_001199417		Approved	KIAA1501	uc021twd.1	Q9P227	OTTHUMG00000188547	ENST00000431231.2:c.1582C>T	17.37:g.36623506C>T	ENSP00000393539:p.Arg528Cys			Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.R528C	ENST00000431231.2	37	c.1582	CCDS56027.1	17	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967227	0.34754	.	.	ENSG00000225485	ENST00000437668;ENST00000431231;ENST00000443378	T;T;T	0.19250	2.16;2.57;2.54	4.97	4.97	0.65823	.	0.146928	0.42053	D	0.000766	T	0.33206	0.0855	L	0.38175	1.15	0.19300	N	0.999975	D;D	0.76494	0.999;0.982	P;P	0.58266	0.836;0.533	T	0.10291	-1.0636	10	0.72032	D	0.01	.	16.9938	0.86361	0.0:1.0:0.0:0.0	.	528;528	Q9P227;Q9P227-2	RHG23_HUMAN;.	C	528;528;434	ENSP00000394153:R528C;ENSP00000393539:R528C;ENSP00000407333:R434C	ENSP00000393539:R528C	R	+	1	0	ARHGAP23	33877032	0.999000	0.42202	0.905000	0.35620	0.781000	0.44180	3.338000	0.52128	2.319000	0.78375	0.462000	0.41574	CGC	ARHGAP23	-	NULL	ENSG00000225485		0.622	ARHGAP23-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP23	HGNC	protein_coding	OTTHUMT00000441789.1	-	0.00	48	0	C	XM_290799		36623506	+1	tier1	-	no_errors	ENST00000431231	ensembl	human	known	74_37	missense	50.00	18	18	SNP	0.196	T
ARHGAP25	9938	genome.wustl.edu	37	2	69002247	69002247	+	Intron	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:69002247delC	ENST00000295381.3	+	2	480				ARHGAP25_ENST00000409220.1_5'UTR|ARHGAP25_ENST00000497079.1_5'UTR|ARHGAP25_ENST00000409202.3_Intron|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000409030.3_5'UTR|ARHGAP25_ENST00000544262.1_Intron|ARHGAP25_ENST00000456116.2_Intron	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGGTTGTCGTCCCCCCGCTTC	0.662																																																	0																																										SO:0001627	intron_variant	0			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.62-106C>-	2.37:g.69002247delC			A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	RNA	DEL	-	NULL	ENST00000295381.3	37	NULL		2																																																																																			ARHGAP25	-	-	ENSG00000163219		0.662	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP25	HGNC	protein_coding			0.00	38	0	C	NM_014882		69002247	+1	tier1		no_errors	ENST00000463061	ensembl	human	known	74_37	rna	37.93	18	11	DEL	0.000	-
LRRC71	149499	genome.wustl.edu	37	1	156904838	156904838	+	IGR	SNP	G	G	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:156904838G>C	ENST00000337428.7	+	0	1959				ARHGEF11_ENST00000368194.3_3'UTR|ARHGEF11_ENST00000487682.1_5'UTR|MIR765_ENST00000390226.1_RNA	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71											endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						TGAGGACGTGGTGATGGGGCC	0.458																																																	0																																										SO:0001628	intergenic_variant	0			BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298		1.37:g.156904838G>C			Q96M24	RNA	SNP	-	NULL	ENST00000337428.7	37	NULL	CCDS44249.1	1																																																																																			ARHGEF11	-	-	ENSG00000132694		0.458	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098961.1	-	0.00	83	0	G	NM_144702		156904838	-1	tier1	-	no_errors	ENST00000487682	ensembl	human	known	74_37	rna	16.83	84	17	SNP	0.026	C
ARHGEF15	22899	genome.wustl.edu	37	17	8224297	8224298	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:8224297_8224298insC	ENST00000361926.3	+	16	2622_2623	c.2512_2513insC	c.(2512-2514)gccfs	p.A838fs	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.A838fs	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	838					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCCCAATGCCCCCCCACCC	0.574																																																	0																																										SO:0001589	frameshift_variant	0			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2519dupC	17.37:g.8224304_8224304dupC	ENSP00000355026:p.Ala838fs		A8K6G1|Q8N449|Q9H8B4	Frame_Shift_Ins	INS	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.P841fs	ENST00000361926.3	37	c.2512_2513	CCDS11139.1	17																																																																																			ARHGEF15	-	NULL	ENSG00000198844		0.574	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2		0.00	28	0	-	NM_173728		8224298	+1	tier1		no_errors	ENST00000361926	ensembl	human	known	74_37	frame_shift_ins	20.00	20	5	INS	0.000:0.001	C
ARHGEF18	23370	genome.wustl.edu	37	19	7504999	7504999	+	Missense_Mutation	SNP	C	C	T	rs546993799	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:7504999C>T	ENST00000359920.6	+	1	426	c.173C>T	c.(172-174)gCg>gTg	p.A58V	ARHGEF18_ENST00000319670.9_Intron|CTD-2207O23.3_ENST00000593531.1_Intron	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	58					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				ATGGGGAATGCGCACTCCAAA	0.647													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		12314	0.0		0.0	False		,,,				2504	0.0																0													22.0	25.0	24.0					19																	7504999		692	1591	2283	SO:0001583	missense	0			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.173C>T	19.37:g.7504999C>T	ENSP00000352995:p.Ala58Val		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A58V	ENST00000359920.6	37	c.173	CCDS45946.1	19	.	.	.	.	.	.	.	.	.	.	C	9.136	1.012718	0.19277	.	.	ENSG00000104880	ENST00000359920	T	0.35789	1.29	5.31	3.11	0.35812	.	0.357409	0.19907	U	0.103364	T	0.16938	0.0407	N	0.19112	0.55	0.09310	N	0.999998	P	0.41131	0.739	B	0.25614	0.062	T	0.08722	-1.0708	10	0.45353	T	0.12	1.268	8.2394	0.31652	0.3193:0.5261:0.1546:0.0	.	58	Q6ZSZ5	ARHGI_HUMAN	V	58	ENSP00000352995:A58V	ENSP00000352995:A58V	A	+	2	0	ARHGEF18	7410999	0.005000	0.15991	0.000000	0.03702	0.017000	0.09413	0.885000	0.28227	0.581000	0.29539	0.561000	0.74099	GCG	ARHGEF18	-	NULL	ENSG00000104880		0.647	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF18	HGNC	protein_coding	OTTHUMT00000436340.1	-	0.00	55	0	C	NM_015318		7504999	+1	tier1	-	no_errors	ENST00000359920	ensembl	human	known	74_37	missense	39.02	25	16	SNP	0.000	T
ARHGEF18	23370	genome.wustl.edu	37	19	7534888	7534888	+	Missense_Mutation	SNP	G	G	A	rs567452162		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:7534888G>A	ENST00000359920.6	+	18	3575	c.3322G>A	c.(3322-3324)Ggc>Agc	p.G1108S	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.G950S|CTD-2207O23.3_ENST00000593531.1_Silent_p.P1065P	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1108	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TATCCTGCCCGGCAGACACAG	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		13453	0.0		0.0	False		,,,				2504	0.001																0													58.0	68.0	64.0					19																	7534888		2203	4300	6503	SO:0001583	missense	0			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.3322G>A	19.37:g.7534888G>A	ENSP00000352995:p.Gly1108Ser		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.G1108S	ENST00000359920.6	37	c.3322	CCDS45946.1	19	.	.	.	.	.	.	.	.	.	.	G	3.777	-0.046341	0.07407	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.29655	1.6;1.56	5.4	-7.94	0.01152	.	1.036650	0.07667	N	0.934786	T	0.09423	0.0232	N	0.01048	-1.04	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.0	T	0.47686	-0.9098	10	0.07990	T	0.79	-3.1603	17.4982	0.87724	0.3275:0.0:0.6725:0.0	.	950;1108	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	S	950;1108	ENSP00000319200:G950S;ENSP00000352995:G1108S	ENSP00000319200:G950S	G	+	1	0	ARHGEF18	7440888	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.672000	0.01952	-2.332000	0.00632	-2.299000	0.00261	GGC	ARHGEF18	-	NULL	ENSG00000104880		0.672	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF18	HGNC	protein_coding	OTTHUMT00000436340.1	-	0.00	43	0	G	NM_015318		7534888	+1	tier1	-	no_errors	ENST00000359920	ensembl	human	known	74_37	missense	42.86	16	12	SNP	0.001	A
ARHGEF25	115557	genome.wustl.edu	37	12	58008378	58008378	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:58008378G>A	ENST00000286494.4	+	8	1266	c.806G>A	c.(805-807)aGc>aAc	p.S269N	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000610219.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.S308N|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	269	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TTTGGGGACAGCTACTTTGAG	0.532																																																	0													111.0	95.0	101.0					12																	58008378		2203	4300	6503	SO:0001583	missense	0				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.806G>A	12.37:g.58008378G>A	ENSP00000286494:p.Ser269Asn		A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S308N	ENST00000286494.4	37	c.923	CCDS8947.1	12	.	.	.	.	.	.	.	.	.	.	g	17.10	3.303672	0.60305	.	.	ENSG00000240771	ENST00000333972;ENST00000300189;ENST00000286494	T;T	0.68765	-0.35;-0.35	4.66	2.83	0.33086	Dbl homology (DH) domain (5);	0.318100	0.23149	N	0.051375	T	0.58119	0.2100	L	0.60455	1.87	0.44261	D	0.997117	B;B;B	0.24092	0.012;0.007;0.097	B;B;B	0.25987	0.029;0.011;0.065	T	0.54761	-0.8245	10	0.48119	T	0.1	.	5.5146	0.16900	0.1807:0.2647:0.5546:0.0	.	308;269;143	F8W7Z4;Q86VW2;Q96M35	.;ARHGP_HUMAN;.	N	308;143;269	ENSP00000335560:S308N;ENSP00000286494:S269N	ENSP00000286494:S269N	S	+	2	0	ARHGEF25	56294645	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.492000	0.53259	0.698000	0.31739	0.563000	0.77884	AGC	ARHGEF25	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000240771		0.532	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	ARHGEF25	HGNC	protein_coding	OTTHUMT00000326561.1	-	0.00	74	0	G	NM_133483		58008378	+1	tier1	-	no_errors	ENST00000333972	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A
ARHGEF26	26084	genome.wustl.edu	37	3	153973715	153973715	+	3'UTR	DEL	T	T	-	rs373595788		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:153973715delT	ENST00000356448.4	+	0	3353				ARHGEF26_ENST00000465093.1_3'UTR|ARHGEF26_ENST00000483068.1_3'UTR|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26						endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TTTCCCTGCCTTTTTTTTTCT	0.348																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)												0																																										SO:0001624	3_prime_UTR_variant	0			BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.*453T>-	3.37:g.153973715delT			B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	RNA	DEL	-	NULL	ENST00000356448.4	37	NULL	CCDS46938.1	3																																																																																			ARHGEF26	-	-	ENSG00000114790		0.348	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF26	HGNC	protein_coding	OTTHUMT00000353287.3		0.00	15	0	T	NM_015595		153973715	+1	tier1		no_errors	ENST00000483068	ensembl	human	known	74_37	rna	69.23	4	9	DEL	0.001	-
ARHGEF37	389337	genome.wustl.edu	37	5	148980676	148980676	+	Silent	SNP	G	G	A	rs568489670		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:148980676G>A	ENST00000333677.6	+	3	355	c.192G>A	c.(190-192)ccG>ccA	p.P64P		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	64	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TCCAGTTGCCGCAGGGAGATC	0.473													g|||	1	0.000199681	0.0	0.0	5008	,	,		19672	0.0		0.001	False		,,,				2504	0.0																0													146.0	146.0	146.0					5																	148980676		1914	4120	6034	SO:0001819	synonymous_variant	0			BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.192G>A	5.37:g.148980676G>A			Q6ZW51	Silent	SNP	pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain	p.P64	ENST00000333677.6	37	c.192	CCDS43385.1	5																																																																																			ARHGEF37	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000183111		0.473	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF37	HGNC	protein_coding	OTTHUMT00000373763.1	-	0.00	68	0	G	NM_001001669		148980676	+1	tier1	-	no_errors	ENST00000333677	ensembl	human	known	74_37	silent	31.65	54	25	SNP	0.000	A
ARID1A	8289	genome.wustl.edu	37	1	27099461	27099462	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:27099461_27099462insTG	ENST00000324856.7	+	14	4069_4070	c.3698_3699insTG	c.(3697-3702)tatggcfs	p.G1234fs	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.G1234fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.G851fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1234					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAGGATCCTTATGGCAGCATGA	0.485			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0																																										SO:0001589	frameshift_variant	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3699_3700dupTG	1.37:g.27099462_27099463dupTG	ENSP00000320485:p.Gly1234fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Ins	INS	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.G1234fs	ENST00000324856.7	37	c.3698_3699	CCDS285.1	1																																																																																			ARID1A	-	NULL	ENSG00000117713		0.485	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2		0.00	27	0	-	NM_139135		27099462	+1	tier1		no_errors	ENST00000324856	ensembl	human	known	74_37	frame_shift_ins	35.14	24	13	INS	1.000:1.000	TG
ARID5A	10865	genome.wustl.edu	37	2	97216896	97216896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:97216896delC	ENST00000357485.3	+	7	709	c.631delC	c.(631-633)cccfs	p.P212fs	ARID5A_ENST00000454558.2_Frame_Shift_Del_p.P144fs	NM_212481.1	NP_997646.1	Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	212					chondrocyte differentiation (GO:0002062)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R213fs*25(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CAGCCAGGAGCCCCCCAGGAA	0.597																																																	1	Insertion - Frameshift(1)	large_intestine(1)											59.0	67.0	65.0					2																	97216896		2203	4300	6503	SO:0001589	frameshift_variant	0			M62324	CCDS33251.1	2p11.1	2013-02-07			ENSG00000196843	ENSG00000196843		"""-"""	17361	protein-coding gene	gene with protein product	"""modulator recognition factor 1"""	611583				8649988	Standard	NM_212481		Approved	MRF-1, RP11-363D14	uc002swe.3	Q03989	OTTHUMG00000155229	ENST00000357485.3:c.631delC	2.37:g.97216896delC	ENSP00000350078:p.Pro212fs		Q6NX37	Frame_Shift_Del	DEL	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.R213fs	ENST00000357485.3	37	c.631	CCDS33251.1	2																																																																																			ARID5A	-	NULL	ENSG00000196843		0.597	ARID5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5A	HGNC	protein_coding	OTTHUMT00000338888.2		0.00	40	0	C	NM_212481		97216896	+1	tier1		no_errors	ENST00000357485	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.000	-
ARMC4	55130	genome.wustl.edu	37	10	28233164	28233164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:28233164delC	ENST00000305242.5	-	12	1822	c.1730delG	c.(1729-1731)ggtfs	p.G577fs	ARMC4_ENST00000545014.1_Frame_Shift_Del_p.G102fs|ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000537576.1_Frame_Shift_Del_p.G269fs	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	577					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTTGGTGATACCCCCGTGCTG	0.532																																																	0													65.0	49.0	54.0					10																	28233164		2203	4300	6503	SO:0001589	frameshift_variant	0			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1730delG	10.37:g.28233164delC	ENSP00000306410:p.Gly577fs		A8K906|B7Z7I1|Q9H0C0	Frame_Shift_Del	DEL	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo	p.G577fs	ENST00000305242.5	37	c.1730	CCDS7157.1	10																																																																																			ARMC4	-	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000169126		0.532	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1		0.00	67	0	C	NM_018076		28233164	-1	tier1		no_errors	ENST00000305242	ensembl	human	known	74_37	frame_shift_del	38.46	40	25	DEL	1.000	-
ARMC5	79798	genome.wustl.edu	37	16	31474229	31474229	+	Missense_Mutation	SNP	G	G	A	rs202056991		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:31474229G>A	ENST00000563544.1	+	4	1907	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	ARMC5_ENST00000268314.4_Missense_Mutation_p.R454Q|ARMC5_ENST00000538189.1_Missense_Mutation_p.R486Q|ARMC5_ENST00000412665.2_Missense_Mutation_p.R98Q|ARMC5_ENST00000457010.2_Missense_Mutation_p.R454Q|ARMC5_ENST00000408912.3_Missense_Mutation_p.R549Q			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	454										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGAAGCTTCCGGAGCCTCAGG	0.597																																																	0													8.0	9.0	9.0					16																	31474229		2041	4176	6217	SO:0001583	missense	0			AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1361G>A	16.37:g.31474229G>A	ENSP00000456877:p.Arg454Gln		Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like	p.R549Q	ENST00000563544.1	37	c.1646	CCDS45472.1	16	.	.	.	.	.	.	.	.	.	.	g	11.77	1.736871	0.30774	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010;ENST00000412665	T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07	4.84	2.82	0.32997	.	0.368094	0.26560	N	0.023694	T	0.17746	0.0426	L	0.56769	1.78	0.24577	N	0.993891	B;B;B;B;B	0.25521	0.062;0.062;0.124;0.025;0.128	B;B;B;B;B	0.19946	0.008;0.008;0.017;0.008;0.027	T	0.24764	-1.0151	10	0.16896	T	0.51	-28.4729	8.6484	0.34020	0.0876:0.1522:0.7602:0.0	.	486;486;549;454;454	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	Q	549;486;454;454;98	ENSP00000386125:R549Q;ENSP00000443995:R486Q;ENSP00000268314:R454Q;ENSP00000399561:R454Q;ENSP00000400183:R98Q	ENSP00000268314:R454Q	R	+	2	0	ARMC5	31381730	1.000000	0.71417	0.990000	0.47175	0.814000	0.46013	2.427000	0.44740	0.433000	0.26313	0.457000	0.33378	CGG	ARMC5	-	NULL	ENSG00000140691		0.597	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC5	HGNC	protein_coding	OTTHUMT00000432847.1	-	0.00	43	0	G	NM_024742		31474229	+1	tier1	-	no_errors	ENST00000408912	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.960	A
ARNTL2	56938	genome.wustl.edu	37	12	27573424	27573424	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:27573424G>T	ENST00000266503.5	+	17	1888	c.1870G>T	c.(1870-1872)Gga>Tga	p.G624*	ARNTL2_ENST00000546179.1_3'UTR|ARNTL2_ENST00000542388.1_Nonsense_Mutation_p.G539*|ARNTL2_ENST00000311001.5_Nonsense_Mutation_p.G610*|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000395901.2_Nonsense_Mutation_p.G587*|ARNTL2_ENST00000544915.1_Nonsense_Mutation_p.G590*|ARNTL2_ENST00000261178.5_Nonsense_Mutation_p.G576*			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	624					circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GGGGGGCCTGGGAGACCCTGG	0.438																																																	0													79.0	83.0	81.0					12																	27573424		2203	4300	6503	SO:0001587	stop_gained	0			AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.1870G>T	12.37:g.27573424G>T	ENSP00000266503:p.Gly624*		B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Nonsense_Mutation	SNP	pfam_PAS_fold,pfam_PAS_fold_3,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.G624*	ENST00000266503.5	37	c.1870	CCDS8712.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	22.1|22.1	4.251092|4.251092	0.80135|0.80135	.|.	.|.	ENSG00000029153|ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388|ENST00000457040	.|.	.|.	.|.	3.63|3.63	2.73|2.73	0.32206|0.32206	.|.	0.071294|.	0.56097|.	D|.	0.000031|.	.|T	.|0.55752	.|0.1940	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999985|0.999985	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49771	.|-0.8904	.|4	0.87932|.	D|.	0|.	.|.	7.4191|7.4191	0.27061|0.27061	0.2045:0.0:0.7955:0.0|0.2045:0.0:0.7955:0.0	.|.	.|.	.|.	.|.	X|C	590;587;610;576;624;539|575	.|.	ENSP00000261178:G576X|.	G|W	+|+	1|3	0|0	ARNTL2|ARNTL2	27464691|27464691	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.946000|0.946000	0.59487|0.59487	3.827000|3.827000	0.55745|0.55745	0.862000|0.862000	0.35528|0.35528	0.563000|0.563000	0.77884|0.77884	GGA|TGG	ARNTL2	-	NULL	ENSG00000029153		0.438	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARNTL2	HGNC	protein_coding	OTTHUMT00000403162.1		0.00	25	0	G	NM_020183		27573424	+1			no_errors	ENST00000266503	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	0.984	T
ARSD	414	genome.wustl.edu	37	X	2822945	2822947	+	3'UTR	DEL	TTT	TTT	-	rs369879013|rs60974016|rs368046426		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:2822945_2822947delTTT	ENST00000381154.1	-	0	4222_4224				ARSD-AS1_ENST00000414053.1_RNA	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D						cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TAGATGTTTCttttttttttttt	0.429																																																	0																																										SO:0001624	3_prime_UTR_variant	0			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.*2367AAA>-	X.37:g.2822954_2822956delTTT			Q9UHJ8	RNA	DEL	-	NULL	ENST00000381154.1	37	NULL	CCDS35196.1	X																																																																																			ARSD-AS1	-	-	ENSG00000229851		0.429	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSD-AS1	HGNC	protein_coding	OTTHUMT00000055636.1		0.00	18	0	TTT			2822947	+1	tier1		no_errors	ENST00000414053	ensembl	human	known	74_37	rna	50.00	5	5	DEL	0.012:0.010:0.007	-
ARSD	414	genome.wustl.edu	37	X	2828792	2828792	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:2828792G>T	ENST00000381154.1	-	7	1118	c.1043C>A	c.(1042-1044)tCa>tAa	p.S348*	ARSD_ENST00000217890.6_5'Flank	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	348					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGTGAATGTTGAGTTCTTTAA	0.418																																																	0													289.0	228.0	249.0					X																	2828792		2203	4300	6503	SO:0001587	stop_gained	0			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1043C>A	X.37:g.2828792G>T	ENSP00000370546:p.Ser348*		Q9UHJ8	Nonsense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.S348*	ENST00000381154.1	37	c.1043	CCDS35196.1	X	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614851	0.66672	.	.	ENSG00000006756	ENST00000381154	.	.	.	3.3	-2.24	0.06909	.	0.376729	0.26373	U	0.024746	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	6.4118	0.21696	0.0:0.335:0.2378:0.4272	.	.	.	.	X	348	.	ENSP00000370546:S348X	S	-	2	0	ARSD	2838792	0.005000	0.15991	0.001000	0.08648	0.006000	0.05464	-0.136000	0.10405	-0.104000	0.12154	0.431000	0.28591	TCA	ARSD	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000006756		0.418	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSD	HGNC	protein_coding	OTTHUMT00000055636.1	-	0.00	61	0	G			2828792	-1	tier1	-	no_errors	ENST00000381154	ensembl	human	known	74_37	nonsense	5.48	69	4	SNP	0.016	T
ARSJ	79642	genome.wustl.edu	37	4	114823494	114823494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:114823494delT	ENST00000315366.7	-	2	2602	c.1736delA	c.(1735-1737)aagfs	p.K582fs	ARSJ_ENST00000541197.1_Frame_Shift_Del_p.K582fs	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	582					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.K579fs*>21(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		tttcttcttcttttttttgct	0.388																																																	1	Deletion - Frameshift(1)	large_intestine(1)											66.0	60.0	61.0					4																	114823494		1854	4092	5946	SO:0001589	frameshift_variant	0				CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1736delA	4.37:g.114823494delT	ENSP00000320219:p.Lys582fs		A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Frame_Shift_Del	DEL	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.K579fs	ENST00000315366.7	37	c.1736	CCDS43264.1	4																																																																																			ARSJ	-	NULL	ENSG00000180801		0.388	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSJ	HGNC	protein_coding	OTTHUMT00000363650.1		0.00	23	0	T	NM_024590		114823494	-1	tier1		no_errors	ENST00000315366	ensembl	human	known	74_37	frame_shift_del	70.00	3	7	DEL	0.628	-
ARVCF	421	genome.wustl.edu	37	22	19967479	19967479	+	Missense_Mutation	SNP	G	G	A	rs375905723		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:19967479G>A	ENST00000263207.3	-	6	1474	c.1183C>T	c.(1183-1185)Cgt>Tgt	p.R395C	ARVCF_ENST00000487793.1_5'Flank|ARVCF_ENST00000406259.1_Missense_Mutation_p.R395C|ARVCF_ENST00000406522.1_Missense_Mutation_p.R332C|ARVCF_ENST00000401994.1_Missense_Mutation_p.R332C|ARVCF_ENST00000344269.3_Missense_Mutation_p.R332C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	395					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TGCCGTACACGCCGCTTGACA	0.692													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15261	0.0		0.0	False		,,,				2504	0.0																0								G	CYS/ARG	1,4361		0,1,2180	18.0	18.0	18.0		1183	3.5	0.4	22		18	1,8561		0,1,4280	no	missense	ARVCF	NM_001670.2	180	0,2,6460	AA,AG,GG		0.0117,0.0229,0.0155	probably-damaging	395/963	19967479	2,12922	2181	4281	6462	SO:0001583	missense	0				CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.1183C>T	22.37:g.19967479G>A	ENSP00000263207:p.Arg395Cys		B7WNV2	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R395C	ENST00000263207.3	37	c.1183	CCDS13771.1	22	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232560	0.79688	2.29E-4	1.17E-4	ENSG00000099889	ENST00000263207;ENST00000344269;ENST00000401994;ENST00000406522;ENST00000406259	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	4.61	3.52	0.40303	Armadillo-like helical (1);Armadillo-type fold (1);	0.103224	0.64402	D	0.000006	T	0.69433	0.3110	L	0.41492	1.28	0.53005	D	0.99996	D	0.71674	0.998	P	0.61658	0.892	T	0.66752	-0.5844	9	.	.	.	-14.4317	12.0767	0.53647	0.0:0.3663:0.6337:0.0	.	395	O00192	ARVC_HUMAN	C	395;332;332;332;395	ENSP00000263207:R395C;ENSP00000342042:R332C;ENSP00000384341:R332C;ENSP00000384732:R332C;ENSP00000385444:R395C	.	R	-	1	0	ARVCF	18347479	1.000000	0.71417	0.426000	0.26672	0.911000	0.54048	5.195000	0.65131	2.589000	0.87451	0.650000	0.86243	CGT	ARVCF	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000099889		0.692	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARVCF	HGNC	protein_coding	OTTHUMT00000075314.5	-	0.00	24	0	G	NM_001670		19967479	-1	tier1	-	no_errors	ENST00000263207	ensembl	human	known	74_37	missense	30.00	14	6	SNP	0.989	A
ASCC2	84164	genome.wustl.edu	37	22	30189349	30189349	+	Splice_Site	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:30189349C>A	ENST00000397771.2	-	18	2096	c.1919G>T	c.(1918-1920)aGg>aTg	p.R640M	ASCC2_ENST00000307790.3_Splice_Site_p.R640M|ASCC2_ENST00000542393.1_Splice_Site_p.R564M			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	640					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			ATGGCCTCACCTGCGGCTGAT	0.582																																																	0													67.0	51.0	57.0					22																	30189349		2203	4300	6503	SO:0001630	splice_region_variant	0			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1919+1G>T	22.37:g.30189349C>A			B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Missense_Mutation	SNP	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE	p.R640M	ENST00000397771.2	37	c.1919	CCDS13869.1	22	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910768	0.92178	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	T;T;T	0.12039	2.72;2.72;2.72	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.38295	0.1035	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.03077	-1.1075	9	.	.	.	-19.9409	17.9686	0.89106	0.0:1.0:0.0:0.0	.	564;640	F5H6J9;Q9H1I8	.;ASCC2_HUMAN	M	640;640;564	ENSP00000305502:R640M;ENSP00000380877:R640M;ENSP00000437570:R564M	.	R	-	2	0	ASCC2	28519349	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.782000	0.62396	2.722000	0.93159	0.609000	0.83330	AGG	ASCC2	-	NULL	ENSG00000100325		0.582	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASCC2	HGNC	protein_coding	OTTHUMT00000322127.1	-	0.00	51	0	C	NM_032204	Missense_Mutation	30189349	-1	tier1	-	no_errors	ENST00000307790	ensembl	human	known	74_37	missense	34.78	30	16	SNP	1.000	A
ASF1A	25842	genome.wustl.edu	37	6	119226836	119226836	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:119226836G>T	ENST00000229595.5	+	3	439	c.245G>T	c.(244-246)gGa>gTa	p.G82V	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	82	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|muscle cell differentiation (GO:0042692)|negative regulation of chromatin silencing (GO:0031936)|nucleosome assembly (GO:0006334)|osteoblast differentiation (GO:0001649)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		CCTAATCCAGGACTCATTCCA	0.383																																																	0													192.0	193.0	193.0					6																	119226836		1904	4130	6034	SO:0001583	missense	0			AF279306	CCDS47469.1	6q22.31	2013-05-01	2013-05-01		ENSG00000111875	ENSG00000111875			20995	protein-coding gene	gene with protein product		609189	"""ASF1 anti-silencing function 1 homolog A (S. cerevisiae)"""			10810093, 11042152	Standard	NM_014034		Approved	DKFZP547E2110, CIA	uc011ebn.2	Q9Y294	OTTHUMG00000015470	ENST00000229595.5:c.245G>T	6.37:g.119226836G>T	ENSP00000229595:p.Gly82Val		Q6IA08|Q9P014	Missense_Mutation	SNP	pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like	p.G82V	ENST00000229595.5	37	c.245	CCDS47469.1	6	.	.	.	.	.	.	.	.	.	.	G	15.86	2.958041	0.53400	.	.	ENSG00000111875	ENST00000229595	.	.	.	6.17	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.42653	0.1212	L	0.34521	1.04	0.80722	D	1	P	0.38551	0.636	P	0.46172	0.506	T	0.51803	-0.8659	9	0.62326	D	0.03	-20.3978	11.9011	0.52685	0.0654:0.1224:0.8122:0.0	.	82	Q9Y294	ASF1A_HUMAN	V	82	.	ENSP00000229595:G82V	G	+	2	0	ASF1A	119268535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.734000	0.62043	1.630000	0.50440	0.655000	0.94253	GGA	ASF1A	-	pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like	ENSG00000111875		0.383	ASF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASF1A	HGNC	protein_coding	OTTHUMT00000361910.1	-	0.00	55	0	G	NM_014034		119226836	+1	tier1	-	no_errors	ENST00000229595	ensembl	human	known	74_37	missense	9.62	47	5	SNP	1.000	T
ASH2L	9070	genome.wustl.edu	37	8	37985908	37985908	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:37985908A>G	ENST00000343823.6	+	11	1574	c.1265A>G	c.(1264-1266)tAt>tGt	p.Y422C	ASH2L_ENST00000521652.1_Missense_Mutation_p.Y328C|ASH2L_ENST00000250635.7_Missense_Mutation_p.Y328C|ASH2L_ENST00000428278.2_Missense_Mutation_p.Y328C|ASH2L_ENST00000545394.1_Missense_Mutation_p.Y283C	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	422	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cellular response to DNA damage stimulus (GO:0006974)|hemopoiesis (GO:0030097)|histone H3-K4 methylation (GO:0051568)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GGTGCCTGGTATTTTGAAATC	0.537																																																	0													86.0	79.0	81.0					8																	37985908		2203	4300	6503	SO:0001583	missense	0			AF056717	CCDS6101.1, CCDS47840.1, CCDS59100.1, CCDS64872.1	8p11.2	2013-01-28	2001-11-28		ENSG00000129691	ENSG00000129691		"""Zinc fingers, PHD-type"""	744	protein-coding gene	gene with protein product		604782	"""ash2 (absent, small, or homeotic, Drosophila, homolog)-like"""	ASH2L1		10393421	Standard	NM_004674		Approved	ASH2L2, ASH2, Bre2	uc003xkt.5	Q9UBL3	OTTHUMG00000164016	ENST00000343823.6:c.1265A>G	8.37:g.37985908A>G	ENSP00000340896:p.Tyr422Cys		A8K7C3|D3DSW9|O60659|O60660|Q96B62	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	p.Y422C	ENST00000343823.6	37	c.1265	CCDS6101.1	8	.	.	.	.	.	.	.	.	.	.	A	19.71	3.878792	0.72294	.	.	ENSG00000129691	ENST00000343823;ENST00000250635;ENST00000545394;ENST00000428278;ENST00000521652	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.79	5.79	0.91817	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.104665	0.64402	D	0.000002	D	0.88847	0.6548	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.947	D	0.90410	0.4409	10	0.87932	D	0	.	16.1323	0.81449	1.0:0.0:0.0:0.0	.	328;422	Q9UBL3-2;Q9UBL3	.;ASH2L_HUMAN	C	422;328;283;328;328	ENSP00000340896:Y422C;ENSP00000250635:Y328C;ENSP00000443606:Y283C;ENSP00000395310:Y328C;ENSP00000430259:Y328C	ENSP00000250635:Y328C	Y	+	2	0	ASH2L	38105065	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.896000	0.63222	2.223000	0.72356	0.454000	0.30748	TAT	ASH2L	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000129691		0.537	ASH2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASH2L	HGNC	protein_coding	OTTHUMT00000376749.4	-	0.00	62	0	A	NM_004674		37985908	+1	tier1	-	no_errors	ENST00000343823	ensembl	human	known	74_37	missense	29.35	65	27	SNP	1.000	G
ASIC1	41	genome.wustl.edu	37	12	50467800	50467800	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:50467800C>T	ENST00000447966.2	+	4	787				ASIC1_ENST00000552438.1_Missense_Mutation_p.R145W|ASIC1_ENST00000228468.4_Intron	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1						associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	TAATGCTGTGCGGCTGTCCCA	0.602																																																	0																																										SO:0001627	intron_variant	0			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.559-3196C>T	12.37:g.50467800C>T			A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.R145W	ENST00000447966.2	37	c.433	CCDS44876.1	12	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692238	0.68271	.	.	ENSG00000110881	ENST00000552438	T	0.68331	-0.32	3.97	3.06	0.35304	.	.	.	.	.	T	0.75347	0.3837	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.78219	-0.2289	6	0.87932	D	0	.	12.5737	0.56352	0.2995:0.7005:0.0:0.0	.	.	.	.	W	145	ENSP00000450247:R145W	ENSP00000450247:R145W	R	+	1	2	ACCN2	48754067	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.442000	0.44873	1.008000	0.39264	0.563000	0.77884	CGG	ASIC1	-	pfam_Na+channel_ASC,prints_Na+channel_ASC	ENSG00000110881		0.602	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC1	HGNC	protein_coding	OTTHUMT00000406004.2	-	0.00	43	0	C	NM_020039		50467800	+1	tier1	-	no_errors	ENST00000552438	ensembl	human	putative	74_37	missense	53.33	21	24	SNP	1.000	T
ASNSD1	54529	genome.wustl.edu	37	2	190530112	190530112	+	5'UTR	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:190530112G>T	ENST00000260952.4	+	0	256				ASNSD1_ENST00000607829.1_Missense_Mutation_p.R52M|ASNSD1_ENST00000607062.1_5'UTR|ASNSD1_ENST00000607690.1_Intron|ASNSD1_ENST00000607535.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1						asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AAAGTATATAGGCAACAACAG	0.318																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.-158G>T	2.37:g.190530112G>T			D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	NULL	p.R52M	ENST00000260952.4	37	c.155	CCDS2300.1	2																																																																																			ASNSD1	-	NULL	ENSG00000138381		0.318	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASNSD1	HGNC	protein_coding	OTTHUMT00000255919.3	-	0.00	65	0	G	NM_019048		190530112	+1	tier1	-	no_errors	ENST00000607829	ensembl	human	putative	74_37	missense	43.18	25	19	SNP	0.841	T
ASPM	259266	genome.wustl.edu	37	1	197073232	197073232	+	Frame_Shift_Del	DEL	T	T	-	rs199422167		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:197073232delT	ENST00000367409.4	-	18	5405	c.5149delA	c.(5149-5151)atafs	p.I1717fs	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1717					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.I1717fs*1(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTGCAGCTATTTTTTTGGAA	0.373																																																	2	Deletion - Frameshift(2)	ovary(1)|large_intestine(1)	GRCh37	CD077387	ASPM	D							107.0	107.0	107.0					1																	197073232		2203	4298	6501	SO:0001589	frameshift_variant	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5149delA	1.37:g.197073232delT	ENSP00000356379:p.Ile1717fs		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Del	DEL	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.I1717fs	ENST00000367409.4	37	c.5149	CCDS1389.1	1																																																																																			ASPM	-	superfamily_ARM-type_fold	ENSG00000066279		0.373	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1		0.00	53	0	T	NM_018136		197073232	-1	tier1		no_errors	ENST00000367409	ensembl	human	known	74_37	frame_shift_del	19.79	77	19	DEL	0.000	-
ASTE1	28990	genome.wustl.edu	37	3	130733047	130733047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:130733047delT	ENST00000264992.3	-	6	2335	c.1894delA	c.(1894-1896)aggfs	p.R632fs	ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000513801.1_Intron|ASTE1_ENST00000514044.1_Frame_Shift_Del_p.R657fs	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	632					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.R632fs*33(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTCTTCTGCCTTTTTTTTTTT	0.403																																																	2	Deletion - Frameshift(2)	ovary(2)											57.0	55.0	56.0					3																	130733047		2203	4300	6503	SO:0001589	frameshift_variant	0			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1894delA	3.37:g.130733047delT	ENSP00000264992:p.Arg632fs		B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Frame_Shift_Del	DEL	pfam_XPG_DNA_repair_N	p.R632fs	ENST00000264992.3	37	c.1894	CCDS3068.1	3																																																																																			ASTE1	-	NULL	ENSG00000034533		0.403	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	HGNC	protein_coding	OTTHUMT00000356659.1		0.00	17	0	T	NM_014065		130733047	-1	tier1		no_errors	ENST00000264992	ensembl	human	known	74_37	frame_shift_del	30.77	18	8	DEL	0.014	-
ASTN1	460	genome.wustl.edu	37	1	176833508	176833508	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:176833508G>A	ENST00000367654.3	-	23	4032	c.3821C>T	c.(3820-3822)gCg>gTg	p.A1274V	ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Missense_Mutation_p.A1266V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1274					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCTGAGCTCCGCCCAGTCAAG	0.567																																																	0													103.0	101.0	101.0					1																	176833508		2203	4300	6503	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3821C>T	1.37:g.176833508G>A	ENSP00000356626:p.Ala1274Val		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.A1274V	ENST00000367654.3	37	c.3821		1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944976	0.34283	.	.	ENSG00000152092	ENST00000361833;ENST00000367654	T;T	0.09445	2.98;2.98	4.61	4.61	0.57282	.	0.407565	0.26048	N	0.026656	T	0.04318	0.0119	N	0.03608	-0.345	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43861	-0.9365	10	0.17832	T	0.49	-3.9374	8.6104	0.33800	0.1742:0.0:0.8257:0.0	.	1266	O14525-2	.	V	1266;1274	ENSP00000354536:A1266V;ENSP00000356626:A1274V	ENSP00000354536:A1266V	A	-	2	0	ASTN1	175100131	0.997000	0.39634	0.998000	0.56505	0.977000	0.68977	2.611000	0.46334	2.282000	0.76494	0.555000	0.69702	GCG	ASTN1	-	NULL	ENSG00000152092		0.567	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		-	0.00	64	0	G	NM_004319		176833508	-1	tier1	-	no_errors	ENST00000367654	ensembl	human	known	74_37	missense	30.00	35	15	SNP	0.976	A
ASXL1	171023	genome.wustl.edu	37	20	31021423	31021423	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:31021423C>T	ENST00000375687.4	+	12	1846	c.1422C>T	c.(1420-1422)ccC>ccT	p.P474P	ASXL1_ENST00000306058.5_Silent_p.P469P	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	474	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTGCAGCACCCGACCTGGAGG	0.592			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													105.0	106.0	106.0					20																	31021423		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1422C>T	20.37:g.31021423C>T			B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	NULL	p.P474	ENST00000375687.4	37	c.1422	CCDS13201.1	20																																																																																			ASXL1	-	NULL	ENSG00000171456		0.592	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	-	0.00	52	0	C	NM_015338		31021423	+1	tier1	-	no_errors	ENST00000375687	ensembl	human	known	74_37	silent	50.00	16	16	SNP	0.000	T
ATAD2	29028	genome.wustl.edu	37	8	124384893	124384893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:124384893delT	ENST00000287394.5	-	3	461	c.354delA	c.(352-354)aaafs	p.K118fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	118					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E119fs*8(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTGCTCTTCTTTTTTTTTAT	0.269																																																	1	Deletion - Frameshift(1)	large_intestine(1)											144.0	150.0	148.0					8																	124384893		2201	4297	6498	SO:0001589	frameshift_variant	0			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.354delA	8.37:g.124384893delT	ENSP00000287394:p.Lys118fs		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Del	DEL	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E119fs	ENST00000287394.5	37	c.354	CCDS6343.1	8																																																																																			ATAD2	-	NULL	ENSG00000156802		0.269	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2		0.00	36	0	T	NM_014109		124384893	-1	tier1		no_errors	ENST00000287394	ensembl	human	known	74_37	frame_shift_del	38.81	41	26	DEL	0.995	-
ATCAY	85300	genome.wustl.edu	37	19	3913846	3913846	+	Silent	SNP	C	C	T	rs370680121		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:3913846C>T	ENST00000450849.2	+	9	1424	c.957C>T	c.(955-957)tgC>tgT	p.C319C	ATCAY_ENST00000398448.3_Silent_p.C325C|ATCAY_ENST00000301260.6_Silent_p.C319C|ATCAY_ENST00000600960.1_Silent_p.C319C	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	319	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)	p.C319C(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TCCCAGACTGCGTCCTGCAGT	0.537													C|||	1	0.000199681	0.0	0.0014	5008	,	,		12433	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	large_intestine(1)						C		0,4086		0,0,2043	72.0	77.0	75.0		957	-2.7	0.8	19		75	1,8345		0,1,4172	no	coding-synonymous	ATCAY	NM_033064.4		0,1,6215	TT,TC,CC		0.012,0.0,0.0080		319/372	3913846	1,12431	2043	4173	6216	SO:0001819	synonymous_variant	0				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.957C>T	19.37:g.3913846C>T			Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.C319	ENST00000450849.2	37	c.957	CCDS45923.1	19																																																																																			ATCAY	-	smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000167654		0.537	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATCAY	HGNC	protein_coding	OTTHUMT00000457872.2	-	0.00	33	0	C			3913846	+1	tier1	-	no_errors	ENST00000301260	ensembl	human	known	74_37	silent	34.78	30	16	SNP	0.937	T
ATF6	22926	genome.wustl.edu	37	1	161751764	161751764	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:161751764G>T	ENST00000367942.3	+	3	289	c.222G>T	c.(220-222)tgG>tgT	p.W74C		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	74	Transcription activation.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	CAGACATTTGGGACATCAACA	0.294																																																	0													93.0	90.0	91.0					1																	161751764		2203	4300	6503	SO:0001583	missense	0			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.222G>T	1.37:g.161751764G>T	ENSP00000356919:p.Trp74Cys		O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.W74C	ENST00000367942.3	37	c.222	CCDS1235.1	1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484427	0.63962	.	.	ENSG00000118217	ENST00000367942	T	0.15718	2.4	5.04	5.04	0.67666	.	0.297898	0.35262	N	0.003336	T	0.20292	0.0488	L	0.55481	1.735	0.46499	D	0.999076	D;D	0.64830	0.994;0.99	P;P	0.57371	0.819;0.594	T	0.01065	-1.1463	9	0.36615	T	0.2	-8.347	14.261	0.66085	0.0:0.0:1.0:0.0	.	74;75	P18850;Q59H30	ATF6A_HUMAN;.	C	74	ENSP00000356919:W74C	ENSP00000356919:W74C	W	+	3	0	ATF6	160018388	1.000000	0.71417	0.952000	0.39060	0.962000	0.63368	4.907000	0.63300	2.498000	0.84270	0.555000	0.69702	TGG	ATF6	-	NULL	ENSG00000118217		0.294	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF6	HGNC	protein_coding	OTTHUMT00000060304.2	-	0.00	53	0	G	NM_007348		161751764	+1	tier1	-	no_errors	ENST00000367942	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.984	T
ATF7IP	55729	genome.wustl.edu	37	12	14649259	14649261	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	ACC	ACC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:14649259_14649261delACC	ENST00000540793.1	+	13	3530_3532	c.3375_3377delACC	c.(3373-3378)cgacca>cga	p.P1127del	ATF7IP_ENST00000544627.1_In_Frame_Del_p.P1135del|ATF7IP_ENST00000536444.1_In_Frame_Del_p.P1126del|ATF7IP_ENST00000261168.4_In_Frame_Del_p.P1127del			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1127					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGCATCACCGACCACCACAAGTG	0.394																																																	0																																										SO:0001651	inframe_deletion	0			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3375_3377delACC	12.37:g.14649262_14649264delACC	ENSP00000444589:p.Pro1127del		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	In_Frame_Del	DEL	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.P1127in_frame_del	ENST00000540793.1	37	c.3375_3377	CCDS8663.1	12																																																																																			ATF7IP	-	NULL	ENSG00000171681		0.394	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1		0.00	26	0	ACC	NM_018179		14649261	+1	tier1		no_errors	ENST00000261168	ensembl	human	known	74_37	in_frame_del	23.88	51	16	DEL	0.882:1.000:1.000	-
ATG2B	55102	genome.wustl.edu	37	14	96783572	96783572	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:96783572delT	ENST00000359933.4	-	20	4013	c.3120delA	c.(3118-3120)aaafs	p.K1040fs		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1040					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GAGAGTCTAATTTTTTTTTCC	0.368																																																	0													76.0	74.0	74.0					14																	96783572		1798	4069	5867	SO:0001589	frameshift_variant	0			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3120delA	14.37:g.96783572delT	ENSP00000353010:p.Lys1040fs		Q6ZRE7|Q96DQ3|Q9NW80	Frame_Shift_Del	DEL	pfam_Autophagy-rel_C	p.K1040fs	ENST00000359933.4	37	c.3120	CCDS9944.2	14																																																																																			ATG2B	-	NULL	ENSG00000066739		0.368	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1		0.00	33	0	T	NM_018036		96783572	-1	tier1		no_errors	ENST00000359933	ensembl	human	known	74_37	frame_shift_del	24.49	37	12	DEL	0.052	-
ATG2B	55102	genome.wustl.edu	37	14	96788614	96788614	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:96788614delA	ENST00000359933.4	-	18	3630				snoU13_ENST00000458931.1_RNA	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B						autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGTTCAGTGCAAAAAAAAAGG	0.353																																																	0										5,26,3501		0,0,5,0,26,1735	75.0	71.0	72.0			-2.9	0.0	14		75	23,91,7706		1,0,21,1,89,3798	no	intron	ATG2B	NM_018036.5		1,0,26,1,115,5533	A1A1,A1A2,A1R,A2A2,A2R,RR		1.4578,0.8777,1.2773			96788614	28,117,11207	1827	4079	5906	SO:0001627	intron_variant	0			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.2737-23T>-	14.37:g.96788614delA			Q6ZRE7|Q96DQ3|Q9NW80	RNA	DEL	-	NULL	ENST00000359933.4	37	NULL	CCDS9944.2	14																																																																																			ATG2B	-	-	ENSG00000066739		0.353	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1		0.00	18	0	A	NM_018036		96788614	-1	tier1		no_errors	ENST00000488421	ensembl	human	known	74_37	rna	20.00	32	8	DEL	0.000	-
ATG9A	79065	genome.wustl.edu	37	2	220089461	220089461	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:220089461C>T	ENST00000409618.1	-	8	1071	c.632G>A	c.(631-633)cGc>cAc	p.R211H	ATG9A_ENST00000361242.4_Missense_Mutation_p.R211H|ATG9A_ENST00000409422.1_Missense_Mutation_p.R150H|ATG9A_ENST00000396761.2_Missense_Mutation_p.R211H|ATG9A_ENST00000488833.1_5'Flank|AC068946.1_ENST00000408417.1_RNA			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	211					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGGAGGATGCGGTGGTAGAT	0.577																																																	0													111.0	115.0	114.0					2																	220089461		2135	4241	6376	SO:0001583	missense	0			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.632G>A	2.37:g.220089461C>T	ENSP00000386710:p.Arg211His		Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3	p.R211H	ENST00000409618.1	37	c.632	CCDS42820.1	2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459983	0.84317	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000431715	T;T;T;T	0.58060	0.76;0.76;0.76;0.36	5.28	5.28	0.74379	.	0.054691	0.64402	D	0.000001	T	0.78767	0.4335	H	0.95187	3.635	0.80722	D	1	D	0.65815	0.995	P	0.57960	0.83	D	0.86010	0.1500	10	0.87932	D	0	.	18.5132	0.90925	0.0:1.0:0.0:0.0	.	211	Q7Z3C6	ATG9A_HUMAN	H	211;211;211;150;115	ENSP00000379983:R211H;ENSP00000386710:R211H;ENSP00000355173:R211H;ENSP00000386535:R150H	ENSP00000355173:R211H	R	-	2	0	ATG9A	219797705	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.780000	0.85658	2.449000	0.82847	0.655000	0.94253	CGC	ATG9A	-	pfam_Autophagy-rel_prot_9	ENSG00000198925		0.577	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATG9A	HGNC	protein_coding	OTTHUMT00000335930.1	-	0.00	38	0	C	NM_024085		220089461	-1	tier1	-	no_errors	ENST00000361242	ensembl	human	known	74_37	missense	30.77	36	16	SNP	1.000	T
ATG9B	285973	genome.wustl.edu	37	7	150709313	150709314	+	5'UTR	INS	-	-	T	rs375435146		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:150709313_150709314insT	ENST00000494791.1	-	0	4558_4559				NOS3_ENST00000477227.1_Intron|NOS3_ENST00000297494.3_Intron|NOS3_ENST00000461406.1_Intron			Q674R7	ATG9B_HUMAN	autophagy related 9B						autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		tttgttttttgtttttttttta	0.401																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000494791.1:c.-13->A	7.37:g.150709323_150709323dupT			A1A5D3|Q6JRW5|Q8N8I8	RNA	INS	-	NULL	ENST00000494791.1	37	NULL		7																																																																																			ATG9B	-	-	ENSG00000181652		0.401	ATG9B-001	KNOWN	non_canonical_U12|basic	processed_transcript	ATG9B	HGNC	protein_coding	OTTHUMT00000351543.2		0.00	8	0	-	NM_173681		150709314	-1	tier1		no_errors	ENST00000494791	ensembl	human	known	74_37	rna	60.00	4	6	INS	0.000:0.000	T
ATG9B	285973	genome.wustl.edu	37	7	150720306	150720307	+	Intron	INS	-	-	G	rs574659110	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:150720306_150720307insG	ENST00000494791.1	-	4	735				ATG9B_ENST00000444312.1_Intron|ATG9B_ENST00000605952.1_Intron|ATG9B_ENST00000377974.2_Intron|ATG9B_ENST00000605938.1_Intron			Q674R7	ATG9B_HUMAN	autophagy related 9B						autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCGGGAGGAAGGGGGGGTGCC	0.569																																																	0																																										SO:0001627	intron_variant	0			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000494791.1:c.3837-13->C	7.37:g.150720313_150720313dupG			A1A5D3|Q6JRW5|Q8N8I8	RNA	INS	-	NULL	ENST00000494791.1	37	NULL		7																																																																																			ATG9B	-	-	ENSG00000181652		0.569	ATG9B-001	KNOWN	non_canonical_U12|basic	processed_transcript	ATG9B	HGNC	protein_coding	OTTHUMT00000351543.2		0.00	51	0	-	NM_173681		150720307	-1	tier1		no_errors	ENST00000473698	ensembl	human	known	74_37	rna	25.00	36	12	INS	0.000:0.007	G
ATG9B	285973	genome.wustl.edu	37	7	150721484	150721484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:150721484delC	ENST00000377974.2	-	1	102	c.27delG	c.(25-27)gggfs	p.G9fs	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000605952.1_Frame_Shift_Del_p.G9fs|ATG9B_ENST00000605938.1_Frame_Shift_Del_p.G9fs			Q674R7	ATG9B_HUMAN	autophagy related 9B	9					autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCTTCTTCTCCCCCCCCAGC	0.642																																																	0										28,31,2877		1,0,26,2,27,1412	3.0	4.0	4.0			3.1	0.2	7		4	45,83,6418		2,0,41,3,77,3150	no	codingComplex	ATG9B	NM_173681.5		3,0,67,5,104,4562	A1A1,A1A2,A1R,A2A2,A2R,RR		1.9554,2.0095,1.9722			150721484	73,114,9295	1659	3688	5347	SO:0001589	frameshift_variant	0			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000377974.2:c.27delG	7.37:g.150721484delC	ENSP00000475005:p.Gly9fs		A1A5D3|Q6JRW5|Q8N8I8	Frame_Shift_Del	DEL	pfam_Autophagy-rel_prot_9	p.R10fs	ENST00000377974.2	37	c.27		7																																																																																			ATG9B	-	NULL	ENSG00000181652		0.642	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	ATG9B	HGNC	protein_coding			0.00	10	0	C	NM_173681		150721484	-1			no_errors	ENST00000377974	ensembl	human	known	74_37	frame_shift_del	33.33	6	3	DEL	0.511	0
ATL3	25923	genome.wustl.edu	37	11	63398665	63398665	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:63398665G>T	ENST00000398868.3	-	12	1662	c.1386C>A	c.(1384-1386)ggC>ggA	p.G462G	ATL3_ENST00000538786.1_Silent_p.G444G|ATL3_ENST00000332645.4_Silent_p.G489G	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	462					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						GACCTATGAAGCCAGTGAGGC	0.498																																																	0													80.0	82.0	81.0					11																	63398665		1955	4155	6110	SO:0001819	synonymous_variant	0				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.1386C>A	11.37:g.63398665G>T			Q8N7W5|Q9H8Q5|Q9UFL1	Silent	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.G489	ENST00000398868.3	37	c.1467	CCDS41663.1	11																																																																																			ATL3	-	NULL	ENSG00000184743		0.498	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATL3	HGNC	protein_coding	OTTHUMT00000396637.1		0.00	54	0	G	NM_015459		63398665	-1			no_errors	ENST00000332645	ensembl	human	known	74_37	silent	5.97	63	4	SNP	1.000	T
ATMIN	23300	genome.wustl.edu	37	16	81077608	81077608	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:81077608C>T	ENST00000299575.4	+	4	1529	c.1505C>T	c.(1504-1506)aCg>aTg	p.T502M	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.T346M|ATMIN_ENST00000564241.1_Missense_Mutation_p.T346M	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	502					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GAAAGTCCAACGGATGACCAT	0.433																																																	0													80.0	78.0	79.0					16																	81077608		2201	4300	6501	SO:0001583	missense	0			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1505C>T	16.37:g.81077608C>T	ENSP00000299575:p.Thr502Met		A8K4H8|Q68DC9	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.T502M	ENST00000299575.4	37	c.1505	CCDS32494.1	16	.	.	.	.	.	.	.	.	.	.	C	2.852	-0.238135	0.05944	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.31247	1.5	6.17	5.23	0.72850	.	0.911746	0.09725	N	0.763905	T	0.20251	0.0487	L	0.51422	1.61	0.09310	N	1	P	0.48350	0.909	B	0.32724	0.151	T	0.22661	-1.0210	10	0.25106	T	0.35	0.0139	3.0689	0.06224	0.1465:0.5594:0.1413:0.1528	.	502	O43313	ATMIN_HUMAN	M	502;273	ENSP00000299575:T502M	ENSP00000299575:T502M	T	+	2	0	ATMIN	79635109	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.896000	0.28377	1.630000	0.50440	0.655000	0.94253	ACG	ATMIN	-	NULL	ENSG00000166454		0.433	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATMIN	HGNC	protein_coding	OTTHUMT00000432140.1	-	0.00	46	0	C	NM_015251		81077608	+1	tier1	-	no_errors	ENST00000299575	ensembl	human	known	74_37	missense	30.95	29	13	SNP	0.000	T
ATP10A	57194	genome.wustl.edu	37	15	25959230	25959230	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:25959230C>T	ENST00000356865.6	-	10	2046	c.1935G>A	c.(1933-1935)ccG>ccA	p.P645P		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	645					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGTCGCTGGACGGGGTGGACG	0.672																																																	0													42.0	45.0	44.0					15																	25959230		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1935G>A	15.37:g.25959230C>T			Q4G0S9|Q969I4	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.P645	ENST00000356865.6	37	c.1935	CCDS32178.1	15																																																																																			ATP10A	-	superfamily_HAD-like_dom	ENSG00000206190		0.672	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	-	0.00	196	0	C	NM_024490		25959230	-1	tier1	-	no_errors	ENST00000356865	ensembl	human	known	74_37	silent	39.73	88	58	SNP	0.553	T
ATP10A	57194	genome.wustl.edu	37	15	26107956	26107956	+	Silent	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:26107956C>A	ENST00000356865.6	-	1	399	c.288G>T	c.(286-288)ctG>ctT	p.L96L	RP11-2C7.1_ENST00000557558.1_lincRNA|ATP10A_ENST00000553577.1_5'Flank	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	96					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGAAGTTGAGCAGCGCGATGA	0.627																																																	0													71.0	52.0	59.0					15																	26107956		2203	4299	6502	SO:0001819	synonymous_variant	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.288G>T	15.37:g.26107956C>A			Q4G0S9|Q969I4	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.L96	ENST00000356865.6	37	c.288	CCDS32178.1	15																																																																																			ATP10A	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000206190		0.627	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	-	0.00	80	0	C	NM_024490		26107956	-1	tier1	-	no_errors	ENST00000356865	ensembl	human	known	74_37	silent	25.37	50	17	SNP	1.000	A
ATP10B	23120	genome.wustl.edu	37	5	160067536	160067536	+	Missense_Mutation	SNP	C	C	T	rs374878756		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:160067536C>T	ENST00000327245.5	-	10	1778	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	311					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTCATGCGCCGCTCAATCTT	0.478																																																	0								C	GLN/ARG	1,4013		0,1,2006	188.0	189.0	189.0		932	5.4	1.0	5		189	0,8408		0,0,4204	no	missense	ATP10B	NM_025153.2	43	0,1,6210	TT,TC,CC		0.0,0.0249,0.0081	possibly-damaging	311/1462	160067536	1,12421	2007	4204	6211	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.932G>A	5.37:g.160067536C>T	ENSP00000313600:p.Arg311Gln		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R311Q	ENST00000327245.5	37	c.932	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027573	0.75390	2.49E-4	0.0	ENSG00000118322	ENST00000327245	D	0.91124	-2.79	5.41	5.41	0.78517	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92156	0.7513	M	0.84846	2.72	0.47341	D	0.999395	P;B;D;P	0.54397	0.924;0.157;0.966;0.536	P;B;P;B	0.46299	0.507;0.052;0.511;0.116	D	0.92577	0.6071	9	.	.	.	.	13.5202	0.61563	0.0:0.9226:0.0:0.0774	.	355;311;283;311	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	Q	311	ENSP00000313600:R311Q	.	R	-	2	0	ATP10B	160000114	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	3.244000	0.51399	2.547000	0.85894	0.650000	0.86243	CGG	ATP10B	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000118322		0.478	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	-	0.00	84	0	C	NM_025153		160067536	-1	tier1	-	no_errors	ENST00000327245	ensembl	human	known	74_37	missense	31.76	58	27	SNP	1.000	T
ATP13A2	23400	genome.wustl.edu	37	1	17316763	17316763	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:17316763C>T	ENST00000326735.8	-	21	2304	c.2271G>A	c.(2269-2271)gcG>gcA	p.A757A	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.A752A|ATP13A2_ENST00000452699.1_Silent_p.A752A			Q9NQ11	AT132_HUMAN	ATPase type 13A2	757					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CCACAGTCACCGCTGTCTGCA	0.632																																																	0													38.0	45.0	43.0					1																	17316763		2202	4300	6502	SO:0001819	synonymous_variant	0			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2271G>A	1.37:g.17316763C>T			O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.A757	ENST00000326735.8	37	c.2271	CCDS175.1	1																																																																																			ATP13A2	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000159363		0.632	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	-	0.00	76	0	C	NM_022089		17316763	-1	tier1	-	no_errors	ENST00000326735	ensembl	human	known	74_37	silent	38.78	30	19	SNP	0.000	T
ATP1A1	476	genome.wustl.edu	37	1	116927462	116927462	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:116927462C>T	ENST00000295598.5	+	3	433	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	ATP1A1_ENST00000369496.4_Missense_Mutation_p.R30W|ATP1A1_ENST00000537345.1_Missense_Mutation_p.R61W|AL136376.1_ENST00000598661.1_5'Flank	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	61					ATP biosynthetic process (GO:0006754)|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)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R61R(1)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGACTTGAGCCGGGTATGTTC	0.363																																																	1	Substitution - coding silent(1)	lung(1)											135.0	128.0	130.0					1																	116927462		2203	4300	6503	SO:0001583	missense	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.181C>T	1.37:g.116927462C>T	ENSP00000295598:p.Arg61Trp		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.R61W	ENST00000295598.5	37	c.181	CCDS887.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208817	0.79240	.	.	ENSG00000163399	ENST00000418797;ENST00000295598;ENST00000537345;ENST00000369494;ENST00000339159;ENST00000369496	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	5.22	4.3	0.51218	ATPase, P-type cation-transporter, N-terminal (2);	0.214566	0.46758	D	0.000275	D	0.84009	0.5378	M	0.80183	2.485	0.51482	D	0.999924	D;D;D	0.71674	0.993;0.994;0.998	P;P;P	0.57009	0.608;0.728;0.811	D	0.86937	0.2077	10	0.87932	D	0	.	13.5787	0.61890	0.1556:0.8444:0.0:0.0	.	61;61;61	F5H3A1;P05023;P05023-2	.;AT1A1_HUMAN;.	W	30;61;61;30;60;30	ENSP00000400124:R30W;ENSP00000295598:R61W;ENSP00000445306:R61W;ENSP00000358506:R30W;ENSP00000358508:R30W	ENSP00000295598:R61W	R	+	1	2	ATP1A1	116728985	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	4.515000	0.60489	1.395000	0.46643	0.563000	0.77884	CGG	ATP1A1	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000163399		0.363	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5	-	0.00	74	0	C	NM_001160233		116927462	+1	tier1	-	no_errors	ENST00000295598	ensembl	human	known	74_37	missense	33.78	49	25	SNP	1.000	T
ATP1A1	476	genome.wustl.edu	37	1	116930848	116930849	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:116930848_116930849insA	ENST00000295598.5	+	5	735_736	c.483_484insA	c.(484-486)aaafs	p.K162fs	ATP1A1_ENST00000369496.4_Frame_Shift_Ins_p.K131fs|ATP1A1_ENST00000537345.1_Frame_Shift_Ins_p.K162fs	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	162					ATP biosynthetic process (GO:0006754)|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)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TGGAATCCTTCAAAAACATGGT	0.46																																																	0																																										SO:0001589	frameshift_variant	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.488dupA	1.37:g.116930853_116930853dupA	ENSP00000295598:p.Lys162fs		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Frame_Shift_Ins	INS	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.N162fs	ENST00000295598.5	37	c.483_484	CCDS887.1	1																																																																																			ATP1A1	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000163399		0.460	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5		0.00	30	0	-	NM_001160233		116930849	+1	tier1		no_errors	ENST00000295598	ensembl	human	known	74_37	frame_shift_ins	26.47	25	9	INS	1.000:1.000	A
ATP1A2	477	genome.wustl.edu	37	1	160091008	160091008	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:160091008G>T	ENST00000361216.3	+	3	233	c.144G>T	c.(142-144)gaG>gaT	p.E48D	ATP1A2_ENST00000392233.3_Missense_Mutation_p.E48D	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	48					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)			CCTTGGATGAGCTGGGCCGCA	0.542																																																	0													209.0	210.0	210.0					1																	160091008		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.144G>T	1.37:g.160091008G>T	ENSP00000354490:p.Glu48Asp		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.E48D	ENST00000361216.3	37	c.144	CCDS1196.1	1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266863	0.59540	.	.	ENSG00000018625	ENST00000361216;ENST00000392233	D;D	0.81659	-1.52;-1.52	4.56	4.56	0.56223	ATPase, P-type cation-transporter, N-terminal (2);	0.126067	0.50627	D	0.000103	T	0.70971	0.3285	M	0.64080	1.96	0.58432	D	0.999992	B	0.11235	0.004	B	0.17722	0.019	T	0.71276	-0.4641	10	0.45353	T	0.12	.	16.2544	0.82505	0.0:0.0:1.0:0.0	.	48	P50993	AT1A2_HUMAN	D	48	ENSP00000354490:E48D;ENSP00000376066:E48D	ENSP00000354490:E48D	E	+	3	2	ATP1A2	158357632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.765000	0.38481	2.363000	0.80096	0.655000	0.94253	GAG	ATP1A2	-	pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000018625		0.542	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	-	0.00	82	0	G	NM_000702		160091008	+1	tier1	-	no_errors	ENST00000361216	ensembl	human	known	74_37	missense	5.08	112	6	SNP	1.000	T
ATP1A4	480	genome.wustl.edu	37	1	160125039	160125039	+	Splice_Site	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:160125039G>A	ENST00000368081.4	+	3	882		c.e3+1			NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide						ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAAGACAACGTGAGTCTCTT	0.517																																																	0													37.0	33.0	35.0					1																	160125039		2203	4300	6503	SO:0001630	splice_region_variant	0			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.411+1G>A	1.37:g.160125039G>A			Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Splice_Site	SNP	-	e3+1	ENST00000368081.4	37	c.411+1	CCDS1197.1	1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267427	0.59540	.	.	ENSG00000132681	ENST00000368081	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1868	0.65609	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP1A4	158391663	1.000000	0.71417	0.935000	0.37517	0.197000	0.23852	9.330000	0.96422	2.193000	0.70182	0.609000	0.83330	.	ATP1A4	-	-	ENSG00000132681		0.517	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A4	HGNC	protein_coding	OTTHUMT00000077415.1	-	0.00	27	0	G	NM_144699	Intron	160125039	+1	tier1	-	no_errors	ENST00000368081	ensembl	human	known	74_37	splice_site	31.67	41	19	SNP	1.000	A
ATP2A1	487	genome.wustl.edu	37	16	28913313	28913313	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:28913313G>A	ENST00000357084.3	+	16	2497	c.2230G>A	c.(2230-2232)Gta>Ata	p.V744I	ATP2A1_ENST00000395503.4_Missense_Mutation_p.V744I|ATP2A1_ENST00000536376.1_Missense_Mutation_p.V619I	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	744					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTCCACCATCGTAGCTGCTGT	0.577																																																	0													138.0	100.0	113.0					16																	28913313		2197	4300	6497	SO:0001583	missense	0				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2230G>A	16.37:g.28913313G>A	ENSP00000349595:p.Val744Ile		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	p.V744I	ENST00000357084.3	37	c.2230	CCDS10643.1	16	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503749	0.85176	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.97620	-4.46;-4.46;-4.46	5.12	4.16	0.48862	HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97626	0.9222	M	0.69185	2.1	0.58432	D	0.999992	D;P;P	0.62365	0.991;0.927;0.9	D;P;P	0.63957	0.92;0.531;0.654	D	0.97704	1.0186	10	0.66056	D	0.02	.	12.7116	0.57092	0.0822:0.0:0.9178:0.0	.	619;744;744	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	I	744;744;781;619	ENSP00000349595:V744I;ENSP00000378879:V744I;ENSP00000443101:V619I	ENSP00000349595:V744I	V	+	1	0	ATP2A1	28820814	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	9.761000	0.98940	1.148000	0.42385	0.561000	0.74099	GTA	ATP2A1	-	superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000196296		0.577	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	-	0.00	89	0	G	NM_004320		28913313	+1	tier1	-	no_errors	ENST00000357084	ensembl	human	known	74_37	missense	45.45	35	30	SNP	1.000	A
ATP2B1	490	genome.wustl.edu	37	12	90010583	90010583	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:90010583G>T	ENST00000428670.3	-	12	2519	c.2063C>A	c.(2062-2064)cCt>cAt	p.P688H	ATP2B1_ENST00000359142.3_Missense_Mutation_p.P688H|ATP2B1_ENST00000261173.2_Missense_Mutation_p.P688H|ATP2B1_ENST00000393164.2_Missense_Mutation_p.P431H|ATP2B1_ENST00000348959.3_Missense_Mutation_p.P688H			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	688					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CACCACCTCAGGTCTCACAGG	0.428																																																	0													106.0	101.0	102.0					12																	90010583		2203	4300	6503	SO:0001583	missense	0			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2063C>A	12.37:g.90010583G>T	ENSP00000392043:p.Pro688His		Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.P688H	ENST00000428670.3	37	c.2063	CCDS9035.1	12	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930771	0.92389	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4;-4.4	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.99260	0.9742	H	0.98769	4.325	0.80722	D	1	D;P;P	0.89917	1.0;0.809;0.796	D;P;B	0.91635	0.999;0.515;0.434	D	0.98609	1.0662	10	0.87932	D	0	-28.8317	19.8788	0.96888	0.0:0.0:1.0:0.0	.	688;688;688	P20020-3;P20020-2;P20020-6	.;.;.	H	688;688;688;688;431	ENSP00000261173:P688H;ENSP00000343599:P688H;ENSP00000352054:P688H;ENSP00000392043:P688H;ENSP00000376869:P431H	ENSP00000261173:P688H	P	-	2	0	ATP2B1	88534714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	2.708000	0.92522	0.650000	0.86243	CCT	ATP2B1	-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma	ENSG00000070961		0.428	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP2B1	HGNC	protein_coding	OTTHUMT00000406653.1		0.00	50	0	G	NM_001682		90010583	-1			no_errors	ENST00000261173	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	T
ATP2B4	493	genome.wustl.edu	37	1	203689833	203689833	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:203689833G>A	ENST00000357681.5	+	16	3686	c.2563G>A	c.(2563-2565)Gtg>Atg	p.V855M	ATP2B4_ENST00000367219.3_Missense_Mutation_p.V843M|ATP2B4_ENST00000367218.3_Missense_Mutation_p.V855M|ATP2B4_ENST00000341360.2_Missense_Mutation_p.V855M|ATP2B4_ENST00000391954.2_Missense_Mutation_p.V855M	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	855					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTGGTGGCCGTGATTGTAGC	0.537																																																	0													165.0	138.0	147.0					1																	203689833		2203	4300	6503	SO:0001583	missense	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2563G>A	1.37:g.203689833G>A	ENSP00000350310:p.Val855Met		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	p.V855M	ENST00000357681.5	37	c.2563	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878575	0.51801	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.98192	-4.78;-4.78;-4.78;-4.78;-4.78	4.52	4.52	0.55395	ATPase, P-type,  transmembrane domain (1);	0.000000	0.46758	D	0.000262	D	0.98118	0.9379	M	0.71581	2.175	0.80722	D	1	P;D;P	0.61697	0.929;0.99;0.852	B;P;B	0.52267	0.182;0.694;0.054	D	0.99150	1.0858	10	0.87932	D	0	-19.8799	17.2006	0.86904	0.0:0.0:1.0:0.0	.	855;855;855	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	M	855;855;843;855;855	ENSP00000350310:V855M;ENSP00000356187:V855M;ENSP00000356188:V843M;ENSP00000375816:V855M;ENSP00000340930:V855M	ENSP00000340930:V855M	V	+	1	0	ATP2B4	201956456	1.000000	0.71417	0.997000	0.53966	0.465000	0.32709	9.807000	0.99171	2.215000	0.71742	0.655000	0.94253	GTG	ATP2B4	-	tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000058668		0.537	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	-	0.00	109	0	G	NM_001001396		203689833	+1	tier1	-	no_errors	ENST00000357681	ensembl	human	known	74_37	missense	30.00	91	39	SNP	1.000	A
ATP5G2	517	genome.wustl.edu	37	12	54063863	54063863	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:54063863G>A	ENST00000549164.1	-	3	227				ATP5G2_ENST00000338662.5_Intron|ATP5G2_ENST00000550241.1_5'Flank|ATP5G2_ENST00000394349.3_Intron|ATP5G2_ENST00000602871.1_Intron			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)						ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TCACATGTACGTTAGAGTTTT	0.388																																																	0																																										SO:0001627	intron_variant	0			X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	842	protein-coding gene	gene with protein product		603193	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"""			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.40-131C>T	12.37:g.54063863G>A			B3KQQ6	Silent	SNP	NULL	p.N25	ENST00000549164.1	37	c.75		12																																																																																			ATP5G2	-	NULL	ENSG00000135390		0.388	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	ATP5G2	HGNC	protein_coding	OTTHUMT00000407403.1	-	0.00	8	0	G	NM_005176		54063863	-1	tier1	-	no_errors	ENST00000549748	ensembl	human	known	74_37	silent	40.00	6	4	SNP	0.000	A
ATP6V0A4	50617	genome.wustl.edu	37	7	138413561	138413561	+	Missense_Mutation	SNP	G	G	T	rs149289710		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:138413561G>T	ENST00000310018.2	-	18	2237	c.1955C>A	c.(1954-1956)cCg>cAg	p.P652Q	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.P652Q|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.P652Q	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	652					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AAGCATCCACGGCACAGAAAT	0.433																																																	0													202.0	191.0	195.0					7																	138413561		2203	4300	6503	SO:0001583	missense	0			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1955C>A	7.37:g.138413561G>T	ENSP00000308122:p.Pro652Gln		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	pfam_V-ATPase_116kDa_su	p.P652Q	ENST00000310018.2	37	c.1955	CCDS5849.1	7	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530775	0.85706	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.88509	-2.39;-2.39;-2.39	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.96904	0.8989	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97891	1.0297	10	0.87932	D	0	-28.1678	19.7969	0.96490	0.0:0.0:1.0:0.0	.	652	Q9HBG4	VPP4_HUMAN	Q	652	ENSP00000308122:P652Q;ENSP00000376774:P652Q;ENSP00000253856:P652Q	ENSP00000308122:P652Q	P	-	2	0	ATP6V0A4	138064101	1.000000	0.71417	0.966000	0.40874	0.902000	0.53008	7.916000	0.87491	2.679000	0.91253	0.650000	0.86243	CCG	ATP6V0A4	-	pfam_V-ATPase_116kDa_su	ENSG00000105929		0.433	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	HGNC	protein_coding	OTTHUMT00000347514.1	-	0.00	36	0	G	NM_020632		138413561	-1	tier1	-	no_errors	ENST00000310018	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.998	T
ATP6V0A4	50617	genome.wustl.edu	37	7	138417705	138417705	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:138417705C>T	ENST00000310018.2	-	17	2107	c.1825G>A	c.(1825-1827)Gcc>Acc	p.A609T	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A609T|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A609T	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	609					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATGCTGGGGGCGTGCTGAGAT	0.413																																																	0													124.0	115.0	118.0					7																	138417705		2203	4300	6503	SO:0001583	missense	0			AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1825G>A	7.37:g.138417705C>T	ENSP00000308122:p.Ala609Thr		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	pfam_V-ATPase_116kDa_su	p.A609T	ENST00000310018.2	37	c.1825	CCDS5849.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.279077	0.95489	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.86865	-2.18;-2.18;-2.18	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.94499	0.8229	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94569	0.7769	10	0.72032	D	0.01	-24.2779	19.9598	0.97242	0.0:1.0:0.0:0.0	.	609	Q9HBG4	VPP4_HUMAN	T	609	ENSP00000308122:A609T;ENSP00000376774:A609T;ENSP00000253856:A609T	ENSP00000308122:A609T	A	-	1	0	ATP6V0A4	138068245	1.000000	0.71417	0.408000	0.26446	0.849000	0.48306	7.813000	0.86123	2.716000	0.92895	0.655000	0.94253	GCC	ATP6V0A4	-	pfam_V-ATPase_116kDa_su	ENSG00000105929		0.413	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0A4	HGNC	protein_coding	OTTHUMT00000347514.1	-	0.00	61	0	C	NM_020632		138417705	-1	tier1	-	no_errors	ENST00000310018	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
ATP8B3	148229	genome.wustl.edu	37	19	1788961	1788963	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:1788961_1788963delAGA	ENST00000310127.6	-	24	3240_3242	c.3002_3004delTCT	c.(3001-3006)ttctac>tac	p.F1001del	ATP8B3_ENST00000525591.1_In_Frame_Del_p.F964del|ATP8B3_ENST00000539485.1_In_Frame_Del_p.F1011del	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1001					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCTCTTGTAGAAGAAGTAGCG	0.631																																																	0									,	28,4198		14,0,2099					,	4.9	1.0			48	64,8140		28,8,4066	no	coding,coding	ATP8B3	NM_138813.2,NM_001178002.1	,	42,8,6165	A1A1,A1R,RR		0.7801,0.6626,0.7401	,	,		92,12338				SO:0001651	inframe_deletion	0			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3002_3004delTCT	19.37:g.1788964_1788966delAGA	ENSP00000311336:p.Phe1001del		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	In_Frame_Del	DEL	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.F1011in_frame_del	ENST00000310127.6	37	c.3034_3032	CCDS45901.1	19																																																																																			ATP8B3	-	tigrfam_Cation_transp_P_typ_ATPase	ENSG00000130270		0.631	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1		0.00	84	0	AGA	NM_138813		1788963	-1	tier1		no_errors	ENST00000539485	ensembl	human	known	74_37	in_frame_del	39.34	37	24	DEL	1.000:1.000:1.000	-
ATP8B3	148229	genome.wustl.edu	37	19	1799764	1799766	+	Intron	DEL	AAA	AAA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:1799764_1799766delAAA	ENST00000310127.6	-	14	1791				ATP8B3_ENST00000525591.1_Intron|ATP8B3_ENST00000539485.1_Intron|ATP8B3_ENST00000526092.2_In_Frame_Del_p.F525del	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3						binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		actctgcctcaaaaaaaaaaaaa	0.547																																																	0																																										SO:0001627	intron_variant	0			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1552+179TTT>-	19.37:g.1799773_1799775delAAA			Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	In_Frame_Del	DEL	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom	p.F525in_frame_del	ENST00000310127.6	37	c.1575_1573	CCDS45901.1	19																																																																																			ATP8B3	-	NULL	ENSG00000130270		0.547	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1		0.00	9	0	AAA	NM_138813		1799766	-1	tier1		no_errors	ENST00000526092	ensembl	human	putative	74_37	in_frame_del	35.71	9	5	DEL	0.016:0.015:0.015	-
ATP8B5P	158381	genome.wustl.edu	37	9	35446471	35446471	+	RNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:35446471G>A	ENST00000430846.1	+	0	2296									ATPase, class I, type 8B, member 5, pseudogene																		TGGAGCTTCTGTCTACCTTTA	0.403																																																	0																																												0					9p13.3	2010-09-22			ENSG00000179766	ENSG00000179766		"""ATPases / P-type"""	27245	pseudogene	pseudogene	"""flippase expressed in testis splicing form A pseudogene"""					20210903, 19657017	Standard	NR_003582		Approved	FetA	uc010mkn.2		OTTHUMG00000019862		9.37:g.35446471G>A				RNA	SNP	-	NULL	ENST00000430846.1	37	NULL		9																																																																																			ATP8B5P	-	-	ENSG00000179766		0.403	ATP8B5P-002	KNOWN	basic	processed_transcript	ATP8B5P	HGNC	pseudogene	OTTHUMT00000052312.1	-	0.00	56	0	G	NR_003581.1		35446471	+1	tier1	-	no_errors	ENST00000329395	ensembl	human	known	74_37	rna	44.64	31	25	SNP	0.487	A
ATP9A	10079	genome.wustl.edu	37	20	50235287	50235287	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:50235287A>G	ENST00000338821.5	-	21	2528	c.2264T>C	c.(2263-2265)gTa>gCa	p.V755A	ATP9A_ENST00000402822.1_Missense_Mutation_p.V634A|ATP9A_ENST00000311637.5_Missense_Mutation_p.V619A	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	755					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCAGCAGACTACGGCCGGGCA	0.632																																																	0													35.0	38.0	37.0					20																	50235287		2202	4299	6501	SO:0001583	missense	0			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.2264T>C	20.37:g.50235287A>G	ENSP00000342481:p.Val755Ala		E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.V755A	ENST00000338821.5	37	c.2264	CCDS33489.1	20	.	.	.	.	.	.	.	.	.	.	A	28.6	4.934985	0.92458	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.88664	-2.41;-2.41;-2.41	5.35	5.35	0.76521	HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95188	0.8440	M	0.88450	2.955	0.80722	D	1	P;D	0.89917	0.954;1.0	D;D	0.87578	0.932;0.998	D	0.96029	0.9015	10	0.87932	D	0	-32.0684	15.3355	0.74250	1.0:0.0:0.0:0.0	.	634;755	O75110-2;O75110	.;ATP9A_HUMAN	A	619;755;634	ENSP00000309086:V619A;ENSP00000342481:V755A;ENSP00000385875:V634A	ENSP00000309086:V619A	V	-	2	0	ATP9A	49668694	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.929000	0.92859	2.017000	0.59298	0.533000	0.62120	GTA	ATP9A	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000054793		0.632	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	-	0.00	126	0	A	NM_006045		50235287	-1	tier1	-	no_errors	ENST00000338821	ensembl	human	known	74_37	missense	46.23	57	49	SNP	1.000	G
ATR	545	genome.wustl.edu	37	3	142274740	142274741	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:142274740_142274741delTT	ENST00000350721.4	-	10	2440_2441	c.2319_2320delAA	c.(2317-2322)aaaatafs	p.KI773fs	ATR_ENST00000383101.3_Frame_Shift_Del_p.KI709fs	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	773					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.I774fs*5(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGACTAGGTATTTTTTTTTTCA	0.327								Other conserved DNA damage response genes																																									1	Deletion - Frameshift(1)	breast(1)																																								SO:0001589	frameshift_variant	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2319_2320delAA	3.37:g.142274748_142274749delTT	ENSP00000343741:p.Lys773fs		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Frame_Shift_Del	DEL	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.K773fs	ENST00000350721.4	37	c.2320_2319	CCDS3124.1	3																																																																																			ATR	-	superfamily_ARM-type_fold	ENSG00000175054		0.327	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2		0.00	39	0	TT	NM_001184		142274741	-1	tier1		no_errors	ENST00000350721	ensembl	human	known	74_37	frame_shift_del	24.00	38	12	DEL	0.000:0.001	-
ATRX	546	genome.wustl.edu	37	X	76763680	76763681	+	3'UTR	DEL	AA	AA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:76763680_76763681delAA	ENST00000373344.5	-	0	7841_7842				ATRX_ENST00000395603.3_3'UTR|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TGCCCTATTTAAAAAAAAAAAA	0.312			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0																																										SO:0001624	3_prime_UTR_variant	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.*149TT>-	X.37:g.76763690_76763691delAA			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	RNA	DEL	-	NULL	ENST00000373344.5	37	NULL	CCDS14434.1	X																																																																																			ATRX	-	-	ENSG00000085224		0.312	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2		0.00	12	0	AA	NM_000489		76763681	-1	tier1		no_errors	ENST00000480283	ensembl	human	known	74_37	rna	25.00	9	3	DEL	0.003:0.001	-
ATRX	546	genome.wustl.edu	37	X	76891501	76891501	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:76891501G>T	ENST00000373344.5	-	16	4818	c.4604C>A	c.(4603-4605)aCc>aAc	p.T1535N	ATRX_ENST00000395603.3_Missense_Mutation_p.T1497N|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1535					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AACCAACTTGGTTGTTATTGG	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											101.0	86.0	91.0					X																	76891501		2203	4296	6499	SO:0001583	missense	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4604C>A	X.37:g.76891501G>T	ENSP00000362441:p.Thr1535Asn		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T1535N	ENST00000373344.5	37	c.4604	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479921	0.63849	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	T;T	0.21031	2.03;2.03	5.33	5.33	0.75918	.	0.000000	0.85682	U	0.000000	T	0.43255	0.1239	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.79108	0.981;0.992	T	0.16630	-1.0396	10	0.18276	T	0.48	-3.2529	18.127	0.89589	0.0:0.0:1.0:0.0	.	1497;1535	P46100-4;P46100	.;ATRX_HUMAN	N	1535;1497	ENSP00000362441:T1535N;ENSP00000378967:T1497N	ENSP00000362441:T1535N	T	-	2	0	ATRX	76778157	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.601000	0.82783	2.217000	0.71921	0.513000	0.50165	ACC	ATRX	-	superfamily_P-loop_NTPase	ENSG00000085224		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2		0.00	78	0	G	NM_000489		76891501	-1			no_errors	ENST00000373344	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T
ATXN2	6311	genome.wustl.edu	37	12	111926574	111926574	+	Missense_Mutation	SNP	C	C	G	rs574747776		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:111926574C>G	ENST00000377617.3	-	15	2587	c.2426G>C	c.(2425-2427)aGt>aCt	p.S809T	AC002395.1_ENST00000581907.1_RNA|ATXN2_ENST00000550104.1_Missense_Mutation_p.S809T|ATXN2_ENST00000389153.4_Missense_Mutation_p.S544T|ATXN2_ENST00000542287.2_Missense_Mutation_p.S544T|ATXN2_ENST00000535949.1_Missense_Mutation_p.S520T|ATXN2_ENST00000608853.1_Missense_Mutation_p.S649T	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	809					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						AGAAGTAGAACTTGGCTGTAA	0.289																																																	0													32.0	31.0	31.0					12																	111926574		2202	4299	6501	SO:0001583	missense	0			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.2426G>C	12.37:g.111926574C>G	ENSP00000366843:p.Ser809Thr		A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.S809T	ENST00000377617.3	37	c.2426	CCDS31902.1	12	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730043	0.89390	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949;ENST00000492467;ENST00000546483	T;T	0.77489	-0.87;-1.1	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.86904	0.6045	M	0.63843	1.955	0.80722	D	1	D;P;D	0.67145	0.982;0.956;0.996	D;D;D	0.77557	0.952;0.931;0.99	D	0.84036	0.0362	10	0.33940	T	0.23	-11.7455	20.073	0.97731	0.0:1.0:0.0:0.0	.	809;520;544	Q99700;Q24JQ7;F8VQP2	ATX2_HUMAN;.;.	T	544;809;809;544;520;133;88	ENSP00000366843:S809T;ENSP00000446576:S809T	ENSP00000366843:S809T	S	-	2	0	ATXN2	110410957	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.677000	0.68142	2.750000	0.94351	0.655000	0.94253	AGT	ATXN2	-	NULL	ENSG00000204842		0.289	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	-	0.00	60	0	C	NM_002973		111926574	-1	tier1	-	no_errors	ENST00000377617	ensembl	human	known	74_37	missense	38.27	50	31	SNP	1.000	G
ATXN8OS	6315	genome.wustl.edu	37	13	70713521	70713521	+	RNA	SNP	G	G	A	rs143757288|rs370770198|rs5002471		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:70713521G>A	ENST00000414504.2	+	0	1108					NR_002717.2				ATXN8 opposite strand (non-protein coding)																		tactactgctgctgctgctgc	0.383																																																	0																																												0			AF126749		13q21	2012-10-19	2008-08-13	2006-07-18	ENSG00000230223	ENSG00000230223		"""Long non-coding RNAs"", ""-"""	10561	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 3"""	603680	"""spinocerebellar ataxia 8"", ""kelch-like 1 antisense (Drosophila)"""	SCA8, KLHL1AS		10192387, 16804541	Standard	NR_002717		Approved	NCRNA00003	uc010aej.1		OTTHUMG00000017057		13.37:g.70713521G>A				RNA	SNP	-	NULL	ENST00000414504.2	37	NULL		13																																																																																			ATXN8OS	-	-	ENSG00000230223		0.383	ATXN8OS-002	KNOWN	basic	antisense	ATXN8OS	HGNC	antisense	OTTHUMT00000045233.2	-	0.00	37	0	G	NR_002717		70713521	+1	tier1	rs5002471	no_errors	ENST00000414504	ensembl	human	known	74_37	rna	11.76	60	8	SNP	0.000	A
ATXN8OS	6315	genome.wustl.edu	37	13	70713524	70713524	+	RNA	SNP	G	G	A	rs112128542|rs143757288		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:70713524G>A	ENST00000414504.2	+	0	1111					NR_002717.2				ATXN8 opposite strand (non-protein coding)																		tactgctgctgctgctgctgc	0.383																																																	0																																												0			AF126749		13q21	2012-10-19	2008-08-13	2006-07-18	ENSG00000230223	ENSG00000230223		"""Long non-coding RNAs"", ""-"""	10561	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 3"""	603680	"""spinocerebellar ataxia 8"", ""kelch-like 1 antisense (Drosophila)"""	SCA8, KLHL1AS		10192387, 16804541	Standard	NR_002717		Approved	NCRNA00003	uc010aej.1		OTTHUMG00000017057		13.37:g.70713524G>A				RNA	SNP	-	NULL	ENST00000414504.2	37	NULL		13																																																																																			ATXN8OS	-	-	ENSG00000230223		0.383	ATXN8OS-002	KNOWN	basic	antisense	ATXN8OS	HGNC	antisense	OTTHUMT00000045233.2	-	0.00	36	0	G	NR_002717		70713524	+1	tier1	rs112128542	no_errors	ENST00000414504	ensembl	human	known	74_37	rna	11.76	60	8	SNP	0.000	A
AXDND1	126859	genome.wustl.edu	37	1	179363073	179363073	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:179363073G>A	ENST00000367618.3	+	10	1286	c.899G>A	c.(898-900)cGg>cAg	p.R300Q	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.R300Q	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	300										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CAGATTGCTCGGCAGATGATT	0.378																																																	0													135.0	130.0	132.0					1																	179363073		2203	4300	6503	SO:0001583	missense	0			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.899G>A	1.37:g.179363073G>A	ENSP00000356590:p.Arg300Gln		Q6AWB2|Q96LJ3|Q96M01	Missense_Mutation	SNP	pfam_Axonemal_dynein_light_chain	p.R300Q	ENST00000367618.3	37	c.899	CCDS30948.1	1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855971	0.51376	.	.	ENSG00000162779	ENST00000367618;ENST00000360322;ENST00000457238;ENST00000434088	T;T;T	0.46819	2.16;0.86;2.18	5.51	-0.74	0.11115	.	0.544659	0.20963	N	0.082532	T	0.28896	0.0717	N	0.21448	0.665	0.23132	N	0.998243	B;B;B	0.29115	0.233;0.106;0.117	B;B;B	0.28011	0.085;0.059;0.014	T	0.15206	-1.0445	10	0.35671	T	0.21	-6.2042	9.6032	0.39617	0.4431:0.0:0.5569:0.0	.	258;300;300	E9PCJ4;Q5T1B0;F5GWM2	.;AXDN1_HUMAN;.	Q	300;258;300;234	ENSP00000356590:R300Q;ENSP00000416712:R300Q;ENSP00000391716:R234Q	ENSP00000353471:R258Q	R	+	2	0	AXDND1	177629696	0.003000	0.15002	0.960000	0.40013	0.561000	0.35649	0.467000	0.22035	-0.165000	0.10908	0.643000	0.83706	CGG	AXDND1	-	pfam_Axonemal_dynein_light_chain	ENSG00000162779		0.378	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	-	0.00	65	0	G	NM_144696		179363073	+1	tier1	-	no_errors	ENST00000367618	ensembl	human	known	74_37	missense	38.33	74	46	SNP	0.969	A
AXL	558	genome.wustl.edu	37	19	41727120	41727120	+	Silent	SNP	C	C	T	rs540192002		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:41727120C>T	ENST00000301178.4	+	3	568	c.378C>T	c.(376-378)ttC>ttT	p.F126F	AXL_ENST00000359092.3_Silent_p.F126F|AXL_ENST00000594880.1_3'UTR|CTD-2195B23.3_ENST00000598541.1_RNA	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	126	Ig-like C2-type 1.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ATCAGACCTTCGTGTCCCAGC	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19008	0.0		0.0	False		,,,				2504	0.001																0													133.0	105.0	114.0					19																	41727120		2203	4300	6503	SO:0001819	synonymous_variant	0			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.378C>T	19.37:g.41727120C>T			Q8N5L2|Q9UD27	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F126	ENST00000301178.4	37	c.378	CCDS12575.1	19																																																																																			AXL	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000167601		0.577	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	HGNC	protein_coding	OTTHUMT00000463323.2	-	0.00	120	0	C			41727120	+1	tier1	-	no_errors	ENST00000301178	ensembl	human	known	74_37	silent	42.86	64	48	SNP	0.020	T
AXL	558	genome.wustl.edu	37	19	41743933	41743933	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:41743933delC	ENST00000301178.4	+	7	1058	c.868delC	c.(868-870)cccfs	p.P291fs	AXL_ENST00000593513.1_Frame_Shift_Del_p.P23fs|AXL_ENST00000359092.3_Frame_Shift_Del_p.P291fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	291	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AGCATCCGTGCCCCCCCATCA	0.647																																																	0													99.0	101.0	100.0					19																	41743933		2203	4300	6503	SO:0001589	frameshift_variant	0			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.868delC	19.37:g.41743933delC	ENSP00000301178:p.Pro291fs		Q8N5L2|Q9UD27	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H292fs	ENST00000301178.4	37	c.868	CCDS12575.1	19																																																																																			AXL	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000167601		0.647	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	HGNC	protein_coding	OTTHUMT00000463323.2		0.00	52	0	C			41743933	+1	tier1		no_errors	ENST00000301178	ensembl	human	known	74_37	frame_shift_del	21.95	32	9	DEL	1.000	-
CEP131	22994	genome.wustl.edu	37	17	79164775	79164775	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:79164775C>T	ENST00000269392.4	-	23	3131	c.2884G>A	c.(2884-2886)Gag>Aag	p.E962K	AZI1_ENST00000374782.3_Missense_Mutation_p.E923K|AZI1_ENST00000575907.1_Missense_Mutation_p.E926K|AZI1_ENST00000450824.2_Missense_Mutation_p.E959K	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		962					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TTCTCGCCCTCGGCCTCCCCA	0.682																																																	0													31.0	39.0	36.0					17																	79164775		2202	4300	6502	SO:0001583	missense	0																														ENST00000269392.4:c.2884G>A	17.37:g.79164775C>T	ENSP00000269392:p.Glu962Lys		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	superfamily_t-SNARE	p.E962K	ENST00000269392.4	37	c.2884		17	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818995	0.71028	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.21191	2.06;2.02;2.07	4.34	3.33	0.38152	.	0.061993	0.64402	D	0.000007	T	0.39462	0.1079	M	0.65498	2.005	0.47308	D	0.999381	D;P;D;P	0.71674	0.998;0.951;0.996;0.585	P;P;P;B	0.59487	0.858;0.519;0.714;0.071	T	0.39210	-0.9625	10	0.87932	D	0	-18.1241	13.9752	0.64268	0.0:0.8469:0.1531:0.0	.	959;962;923;959	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	K	959;923;962	ENSP00000393583:E959K;ENSP00000363914:E923K;ENSP00000269392:E962K	ENSP00000269392:E962K	E	-	1	0	AZI1	76779370	1.000000	0.71417	0.546000	0.28166	0.375000	0.29983	5.686000	0.68211	0.984000	0.38629	0.585000	0.79938	GAG	AZI1	-	superfamily_t-SNARE	ENSG00000141577		0.682	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	AZI1	HGNC	protein_coding	OTTHUMT00000256070.1	-	0.00	54	0	C			79164775	-1	tier1	-	no_errors	ENST00000269392	ensembl	human	known	74_37	missense	40.74	32	22	SNP	0.998	T
B2M	567	genome.wustl.edu	37	15	45003745	45003745	+	Start_Codon_SNP	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:45003745A>T	ENST00000558401.1	+	1	71	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	PATL2_ENST00000558573.1_5'Flank|B2M_ENST00000559916.1_Start_Codon_SNP_p.M1L|B2M_ENST00000544417.1_Start_Codon_SNP_p.M1L	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	1					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.M1L(3)|p.M1V(2)|p.?(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TCGGGCCGAGATGTCTCGCTC	0.612																																																	6	Substitution - Missense(5)|Unknown(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(2)|lung(1)|large_intestine(1)											126.0	92.0	104.0					15																	45003745		2198	4298	6496	SO:0001582	initiator_codon_variant	0			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.1A>T	15.37:g.45003745A>T	ENSP00000452780:p.Met1Leu		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	p.M1L	ENST00000558401.1	37	c.1	CCDS10113.1	15	.	.	.	.	.	.	.	.	.	.	A	22.1	4.242783	0.79912	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.01165	5.24	5.35	5.35	0.76521	.	.	.	.	.	T	0.01765	0.0056	.	.	.	0.80722	D	1	P;P;P	0.47302	0.835;0.893;0.745	B;B;B	0.41271	0.352;0.294;0.192	T	0.62821	-0.6773	8	0.87932	D	0	.	11.9	0.52678	1.0:0.0:0.0:0.0	.	1;1;1	F5H6I0;A6XMH4;P61769	.;.;B2MG_HUMAN	L	1	ENSP00000437604:M1L	ENSP00000340858:M1L	M	+	1	0	B2M	42791037	0.891000	0.30450	0.406000	0.26421	0.024000	0.10985	1.849000	0.39318	2.371000	0.80710	0.533000	0.62120	ATG	B2M	-	NULL	ENSG00000166710		0.612	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	B2M	HGNC	protein_coding	OTTHUMT00000254007.2	-	0.00	62	0	A	NM_004048	Missense_Mutation	45003745	+1	tier1	-	no_errors	ENST00000544417	ensembl	human	known	74_37	missense	53.19	22	25	SNP	0.685	T
B2M	567	genome.wustl.edu	37	15	45007798	45007801	+	Frame_Shift_Del	DEL	TCTA	TCTA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TCTA	TCTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:45007798_45007801delTCTA	ENST00000558401.1	+	2	315_318	c.245_248delTCTA	c.(244-249)ttctatfs	p.FY82fs	B2M_ENST00000559916.1_Frame_Shift_Del_p.FY82fs|B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Frame_Shift_Del_p.FY82fs	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	82	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GACTGGTCTTTCTATCTCTTGTAC	0.436																																																	0																																										SO:0001589	frameshift_variant	0			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.245_248delTCTA	15.37:g.45007798_45007801delTCTA	ENSP00000452780:p.Phe82fs		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Frame_Shift_Del	DEL	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Y83fs	ENST00000558401.1	37	c.245_248	CCDS10113.1	15																																																																																			B2M	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000166710		0.436	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	B2M	HGNC	protein_coding	OTTHUMT00000254007.2		0.00	93	0	TCTA	NM_004048		45007801	+1	tier1		no_errors	ENST00000544417	ensembl	human	known	74_37	frame_shift_del	29.35	65	27	DEL	1.000:1.000:0.992:0.989	-
B2M	567	genome.wustl.edu	37	15	45007801	45007801	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:45007801A>T	ENST00000558401.1	+	2	318	c.248A>T	c.(247-249)tAt>tTt	p.Y83F	B2M_ENST00000559916.1_Missense_Mutation_p.Y83F|B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Missense_Mutation_p.Y83F	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	83	Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGGTCTTTCTATCTCTTGTAC	0.428																																																	0													182.0	179.0	180.0					15																	45007801		2198	4298	6496	SO:0001583	missense	0			AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.248A>T	15.37:g.45007801A>T	ENSP00000452780:p.Tyr83Phe		P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Missense_Mutation	SNP	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Y83F	ENST00000558401.1	37	c.248	CCDS10113.1	15	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589118	0.66105	.	.	ENSG00000166710	ENST00000349264;ENST00000544417;ENST00000396754	T	0.02656	4.21	6.03	6.03	0.97812	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.344654	0.33005	N	0.005395	T	0.14098	0.0341	M	0.76433	2.335	0.40570	D	0.981296	D;D	0.69078	0.997;0.994	D;D	0.73380	0.98;0.959	T	0.00134	-1.2008	10	0.72032	D	0.01	.	12.95	0.58394	1.0:0.0:0.0:0.0	.	83;83	F5H6I0;P61769	.;B2MG_HUMAN	F	83	ENSP00000437604:Y83F	ENSP00000340858:Y83F	Y	+	2	0	B2M	42795093	1.000000	0.71417	0.954000	0.39281	0.038000	0.13279	6.818000	0.75257	2.308000	0.77769	0.533000	0.62120	TAT	B2M	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000166710		0.428	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	B2M	HGNC	protein_coding	OTTHUMT00000254007.2		0.00	97	0	A	NM_004048		45007801	+1			no_errors	ENST00000544417	ensembl	human	known	74_37	missense	7.35	59	5	SNP	0.989	T
B3GAT2	135152	genome.wustl.edu	37	6	71666061	71666061	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:71666061G>A	ENST00000230053.6	-	1	680	c.72C>T	c.(70-72)gaC>gaT	p.D24D		NM_080742.2	NP_542780.1	Q9NPZ5	B3GA2_HUMAN	beta-1,3-glucuronyltransferase 2	24					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCGTGTCCACGTCGAGCATGA	0.677																																																	0													13.0	16.0	15.0					6																	71666061		2051	4052	6103	SO:0001819	synonymous_variant	0			AB075843	CCDS4974.1	6q12	2014-07-08	2014-07-08		ENSG00000112309	ENSG00000112309	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	922	protein-coding gene	gene with protein product	"""glucuronosyltransferase S"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2"""	607497				12383500	Standard	NM_080742		Approved	GlcAT-S	uc003pfv.3	Q9NPZ5	OTTHUMG00000014997	ENST00000230053.6:c.72C>T	6.37:g.71666061G>A			Q5JS09|Q8TF38|Q96NK4	Silent	SNP	pfam_Glyco_trans_43	p.D24	ENST00000230053.6	37	c.72	CCDS4974.1	6																																																																																			B3GAT2	-	NULL	ENSG00000112309		0.677	B3GAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GAT2	HGNC	protein_coding	OTTHUMT00000041150.2	-	0.00	69	0	G	NM_080742		71666061	-1	tier1	-	no_errors	ENST00000230053	ensembl	human	known	74_37	silent	40.62	19	13	SNP	1.000	A
B3GNT7	93010	genome.wustl.edu	37	2	232263177	232263177	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:232263177C>T	ENST00000287590.5	+	2	1008	c.747C>T	c.(745-747)aaC>aaT	p.N249N		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	249					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		ACCCCACCAACCTGCTAGAAT	0.552																																																	0													57.0	62.0	60.0					2																	232263177		2072	4189	6261	SO:0001819	synonymous_variant	0			AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.747C>T	2.37:g.232263177C>T			B3KWY4|B7WNP0	Silent	SNP	pfam_Glyco_trans_31,pfam_Fringe-like	p.N249	ENST00000287590.5	37	c.747	CCDS46540.1	2																																																																																			B3GNT7	-	pfam_Glyco_trans_31,pfam_Fringe-like	ENSG00000156966		0.552	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT7	HGNC	protein_coding	OTTHUMT00000332827.1	-	0.00	30	0	C	NM_145236		232263177	+1	tier1	-	no_errors	ENST00000287590	ensembl	human	known	74_37	silent	18.75	13	3	SNP	1.000	T
B4GALNT1	2583	genome.wustl.edu	37	12	58025103	58025103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:58025103delC	ENST00000341156.4	-	3	847	c.263delG	c.(262-264)ggcfs	p.G88fs	B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Del_p.G88fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Del_p.G88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000449184.3_Frame_Shift_Del_p.G88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GAGGGGGAGGCCCCCCCCACT	0.592																																																	1	Deletion - Frameshift(1)	large_intestine(1)											74.0	85.0	81.0					12																	58025103		2203	4300	6503	SO:0001589	frameshift_variant	0			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.263delG	12.37:g.58025103delC	ENSP00000341562:p.Gly88fs		B4DE26|Q8N636	Frame_Shift_Del	DEL	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.G88fs	ENST00000341156.4	37	c.263	CCDS8950.1	12																																																																																			B4GALNT1	-	pirsf_GM2_synthase	ENSG00000135454		0.592	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	HGNC	protein_coding	OTTHUMT00000407853.1		0.00	43	0	C	NM_001478		58025103	-1	tier1		no_errors	ENST00000341156	ensembl	human	known	74_37	frame_shift_del	22.86	27	8	DEL	0.099	-
B4GALNT1	2583	genome.wustl.edu	37	12	58025802	58025802	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:58025802C>T	ENST00000341156.4	-	2	698	c.114G>A	c.(112-114)gcG>gcA	p.A38A	B4GALNT1_ENST00000418555.2_Silent_p.A38A|B4GALNT1_ENST00000550764.1_Silent_p.A38A|B4GALNT1_ENST00000552350.1_Silent_p.A38A|B4GALNT1_ENST00000550943.1_5'UTR|B4GALNT1_ENST00000449184.3_Silent_p.A38A	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	38					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GCGCCCACGGCGCAAGAGGTA	0.716																																																	0													5.0	6.0	6.0					12																	58025802		2106	4113	6219	SO:0001819	synonymous_variant	0			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.114G>A	12.37:g.58025802C>T			B4DE26|Q8N636	Silent	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.A38	ENST00000341156.4	37	c.114	CCDS8950.1	12																																																																																			B4GALNT1	-	pirsf_GM2_synthase	ENSG00000135454		0.716	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	HGNC	protein_coding	OTTHUMT00000407853.1	-	0.00	42	0	C	NM_001478		58025802	-1	tier1	-	no_errors	ENST00000341156	ensembl	human	known	74_37	silent	43.33	17	13	SNP	0.367	T
B4GALNT4	338707	genome.wustl.edu	37	11	380921	380921	+	Frame_Shift_Del	DEL	G	G	-	rs202153599|rs35951843		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:380921delG	ENST00000329962.6	+	19	2966	c.2966delG	c.(2965-2967)tggfs	p.W989fs		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	989					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGAGACCAGTGGGGGGGTGAA	0.602																																																	0													48.0	49.0	49.0					11																	380921		2203	4300	6503	SO:0001589	frameshift_variant	0			AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.2966delG	11.37:g.380921delG	ENSP00000328277:p.Trp989fs		Q96LV2	Frame_Shift_Del	DEL	pfam_Chond_GalNAc,pfam_PA14,smart_PA14	p.G991fs	ENST00000329962.6	37	c.2966	CCDS7694.1	11																																																																																			B4GALNT4	-	pfam_Chond_GalNAc	ENSG00000182272		0.602	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT4	HGNC	protein_coding	OTTHUMT00000239289.2		0.00	58	0	G	NM_178537		380921	+1	tier1		no_errors	ENST00000329962	ensembl	human	known	74_37	frame_shift_del	45.65	25	21	DEL	1.000	-
B4GALT2	8704	genome.wustl.edu	37	1	44451262	44451262	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:44451262C>T	ENST00000356836.6	+	6	1727	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	B4GALT2_ENST00000372324.1_Missense_Mutation_p.R313C|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000309519.7_Missense_Mutation_p.R342C|B4GALT2_ENST00000434555.2_Missense_Mutation_p.R247C	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	313	UDP-alpha-D-galactose binding. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CAAGCACGACCGCGACAAGCA	0.572																																																	0													175.0	147.0	157.0					1																	44451262		2203	4300	6503	SO:0001583	missense	0			AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.937C>T	1.37:g.44451262C>T	ENSP00000349293:p.Arg313Cys		B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	pfam_Galactosyl_T_C,prints_Galactosyl_T	p.R342C	ENST00000356836.6	37	c.1024	CCDS506.1	1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827209	0.71143	.	.	ENSG00000117411	ENST00000372324;ENST00000434555;ENST00000356836;ENST00000309519	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.46	4.53	0.55603	.	0.060322	0.64402	D	0.000003	T	0.66626	0.2808	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.94;0.998;0.995	T	0.75351	-0.3348	10	0.87932	D	0	-15.69	16.1062	0.81223	0.0:0.8659:0.1341:0.0	.	342;247;313	B4DE14;O60909-2;O60909	.;.;B4GT2_HUMAN	C	313;247;313;342	ENSP00000361399:R313C;ENSP00000407468:R247C;ENSP00000349293:R313C;ENSP00000310696:R342C	ENSP00000310696:R342C	R	+	1	0	B4GALT2	44223849	0.934000	0.31675	1.000000	0.80357	0.889000	0.51656	2.041000	0.41213	1.260000	0.44134	0.411000	0.27672	CGC	B4GALT2	-	pfam_Galactosyl_T_C	ENSG00000117411		0.572	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT2	HGNC	protein_coding	OTTHUMT00000022840.1		0.00	15	0	C	NM_003780		44451262	+1			no_errors	ENST00000309519	ensembl	human	known	74_37	missense	33.33	6	3	SNP	1.000	T
B9D1	27077	genome.wustl.edu	37	17	19261171	19261171	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:19261171delT	ENST00000261499.4	-	3	369	c.226delA	c.(226-228)agcfs	p.S76fs	B9D1_ENST00000395615.1_Frame_Shift_Del_p.S76fs|B9D1_ENST00000395616.3_Frame_Shift_Del_p.S76fs|B9D1_ENST00000477478.2_Frame_Shift_Del_p.K51fs|B9D1_ENST00000575403.1_Frame_Shift_Del_p.K51fs|B9D1_ENST00000461069.2_Frame_Shift_Del_p.S76fs|B9D1_ENST00000268841.6_Frame_Shift_Del_p.S76fs	NM_015681.3	NP_056496.1	Q9UPM9	B9D1_HUMAN	B9 protein domain 1	76	B9. {ECO:0000255|PROSITE- ProRule:PRU00713}.				camera-type eye development (GO:0043010)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|in utero embryonic development (GO:0001701)|neuroepithelial cell differentiation (GO:0060563)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)|vasculature development (GO:0001944)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)	hedgehog receptor activity (GO:0008158)			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GGGTTGGTGCTTTTAAAGGTG	0.582																																																	0													154.0	123.0	134.0					17																	19261171		2203	4300	6503	SO:0001589	frameshift_variant	0			BC002944	CCDS11205.1, CCDS58528.1	17p11.2	2014-09-17			ENSG00000108641	ENSG00000108641			24123	protein-coding gene	gene with protein product	"""endothelial precursor protein B9"""	614144				21493627	Standard	NM_015681		Approved	B9, EPPB9, MKS9	uc010vyr.2	Q9UPM9	OTTHUMG00000059586	ENST00000261499.4:c.226delA	17.37:g.19261171delT	ENSP00000261499:p.Ser76fs		Q9BU22	Frame_Shift_Del	DEL	pfam_B9_dom	p.S76fs	ENST00000261499.4	37	c.226	CCDS11205.1	17																																																																																			B9D1	-	pfam_B9_dom	ENSG00000108641		0.582	B9D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B9D1	HGNC	protein_coding	OTTHUMT00000132494.1		0.00	49	0	T	NM_015681		19261171	-1	tier1		no_errors	ENST00000261499	ensembl	human	known	74_37	frame_shift_del	42.86	20	15	DEL	1.000	-
BAHCC1	57597	genome.wustl.edu	37	17	79409064	79409064	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:79409064G>A	ENST00000307745.7	+	9	689	c.689G>A	c.(688-690)gGc>gAc	p.G230D																								GAGAAGGCGGGCAAGGCCGCT	0.697																																																	0													15.0	21.0	19.0					17																	79409064		2090	4174	6264	SO:0001583	missense	0																														ENST00000307745.7:c.689G>A	17.37:g.79409064G>A	ENSP00000303486:p.Gly230Asp			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.G230D	ENST00000307745.7	37	c.689		17	.	.	.	.	.	.	.	.	.	.	g	9.166	1.019969	0.19433	.	.	ENSG00000171282	ENST00000307745	T	0.11821	2.74	3.87	3.87	0.44632	.	.	.	.	.	T	0.12092	0.0294	L	0.50333	1.59	0.20975	N	0.999811	B	0.30482	0.281	B	0.27715	0.082	T	0.15838	-1.0423	9	0.20519	T	0.43	.	8.3356	0.32213	0.0:0.1682:0.6589:0.1729	.	230	Q9P281	BAHC1_HUMAN	D	230	ENSP00000303486:G230D	ENSP00000303486:G230D	G	+	2	0	AC110285.1	77023659	0.034000	0.19679	0.508000	0.27688	0.377000	0.30045	2.026000	0.41069	2.174000	0.68829	0.298000	0.19748	GGC	RP11-1055B8.7	-	NULL	ENSG00000171282		0.697	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	Clone_based_vega_gene	protein_coding		-	0.00	39	0	G			79409064	+1	tier1	-	no_errors	ENST00000307745	ensembl	human	known	74_37	missense	46.15	14	12	SNP	0.893	A
BAHCC1	57597	genome.wustl.edu	37	17	79410506	79410506	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:79410506C>T	ENST00000307745.7	+	9	2131	c.2131C>T	c.(2131-2133)Cgg>Tgg	p.R711W	RP11-1055B8.7_ENST00000570375.1_3'UTR																							GGCCTTGGCCCGGCAGAAGGA	0.711																																																	0													5.0	7.0	6.0					17																	79410506		1997	4080	6077	SO:0001583	missense	0																														ENST00000307745.7:c.2131C>T	17.37:g.79410506C>T	ENSP00000303486:p.Arg711Trp			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.R711W	ENST00000307745.7	37	c.2131		17	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558440	0.65538	.	.	ENSG00000171282	ENST00000307745	T	0.59772	0.24	4.09	-0.641	0.11490	.	.	.	.	.	T	0.73791	0.3632	M	0.80982	2.52	0.41829	D	0.990062	D	0.89917	1.0	D	0.91635	0.999	T	0.75569	-0.3272	9	0.87932	D	0	.	12.7956	0.57558	0.5585:0.4415:0.0:0.0	.	711	Q9P281	BAHC1_HUMAN	W	711	ENSP00000303486:R711W	ENSP00000303486:R711W	R	+	1	2	AC110285.1	77025101	0.736000	0.28164	0.996000	0.52242	0.936000	0.57629	0.504000	0.22626	-0.241000	0.09681	-0.224000	0.12420	CGG	RP11-1055B8.7	-	NULL	ENSG00000171282		0.711	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	Clone_based_vega_gene	protein_coding			0.00	22	0	C			79410506	+1			no_errors	ENST00000307745	ensembl	human	known	74_37	missense	30.43	16	7	SNP	1.000	T
BAI1	575	genome.wustl.edu	37	8	143603442	143603442	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:143603442C>T	ENST00000517894.1	+	21	4035	c.3141C>T	c.(3139-3141)cgC>cgT	p.R1047R	BAI1_ENST00000323289.5_Silent_p.R1047R			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1047					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCGGAACCGCCTCATCCGCA	0.652																																																	0													31.0	40.0	37.0					8																	143603442		2200	4299	6499	SO:0001819	synonymous_variant	0			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3141C>T	8.37:g.143603442C>T				Silent	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.R1047	ENST00000517894.1	37	c.3141		8																																																																																			BAI1	-	pfam_GPCR_2_secretin-like,prints_GPCR_2_brain-spec_angio_inhib,pfscan_GPCR_2-like	ENSG00000181790		0.652	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	-	0.00	59	0	C	NM_001702		143603442	+1	tier1	-	no_errors	ENST00000323289	ensembl	human	known	74_37	silent	28.57	40	16	SNP	1.000	T
BAI2	576	genome.wustl.edu	37	1	32200983	32200984	+	Intron	DEL	GA	GA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:32200983_32200984delGA	ENST00000373658.3	-	25	3695				BAI2_ENST00000398538.1_Intron|BAI2_ENST00000527361.1_Intron|BAI2_ENST00000398556.3_Intron|BAI2_ENST00000440175.2_Intron|BAI2_ENST00000373655.2_Intron|BAI2_ENST00000257070.4_Intron|BAI2_ENST00000398542.1_Intron|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398547.1_Intron	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2						G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GAGGGCAGACGAGAGAGAGAGA	0.663																																																	0																																										SO:0001627	intron_variant	0			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3354-101TC>-	1.37:g.32200993_32200994delGA			B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	RNA	DEL	-	NULL	ENST00000373658.3	37	NULL	CCDS346.2	1																																																																																			BAI2	-	-	ENSG00000121753		0.663	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1		0.00	33	0	GA	NM_001703		32200984	-1	tier1		no_errors	ENST00000465256	ensembl	human	known	74_37	rna	41.18	10	7	DEL	0.643:0.996	-
BAI2	576	genome.wustl.edu	37	1	32201935	32201935	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:32201935C>T	ENST00000373658.3	-	22	3528	c.3187G>A	c.(3187-3189)Ggt>Agt	p.G1063S	BAI2_ENST00000398538.1_Missense_Mutation_p.G1051S|BAI2_ENST00000527361.1_Missense_Mutation_p.G1063S|BAI2_ENST00000398556.3_Missense_Mutation_p.G1011S|BAI2_ENST00000440175.2_Missense_Mutation_p.G705S|BAI2_ENST00000373655.2_Missense_Mutation_p.G1063S|BAI2_ENST00000257070.4_Missense_Mutation_p.G1063S|BAI2_ENST00000398542.1_Missense_Mutation_p.G996S|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398547.1_Missense_Mutation_p.G996S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1063					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G1063C(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGGATGTACCGTATCCTTTC	0.597																																																	1	Substitution - Missense(1)	lung(1)											205.0	183.0	191.0					1																	32201935		2203	4300	6503	SO:0001583	missense	0			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3187G>A	1.37:g.32201935C>T	ENSP00000362762:p.Gly1063Ser		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.G1063S	ENST00000373658.3	37	c.3187	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129927	0.77549	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	4.68	4.68	0.58851	GPCR, family 2-like (1);	0.000000	0.43919	D	0.000515	T	0.62901	0.2466	M	0.68317	2.08	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.953;0.954;1.0;0.972	T	0.61749	-0.6999	10	0.35671	T	0.21	.	17.5817	0.87970	0.0:1.0:0.0:0.0	.	1063;1051;705;1063;1063	O60241-4;O60241-3;B4DKC3;O60241-2;O60241	.;.;.;.;BAI2_HUMAN	S	1011;996;1063;1063;996;1063;1063;705;1051	ENSP00000381564:G1011S;ENSP00000381555:G996S;ENSP00000362762:G1063S;ENSP00000362759:G1063S;ENSP00000381550:G996S;ENSP00000257070:G1063S;ENSP00000435397:G1063S;ENSP00000391071:G705S;ENSP00000381548:G1051S	ENSP00000257070:G1063S	G	-	1	0	BAI2	31974522	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.841000	0.69409	2.318000	0.78349	0.462000	0.41574	GGT	BAI2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib	ENSG00000121753		0.597	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	-	0.00	65	0	C	NM_001703		32201935	-1	tier1	-	no_errors	ENST00000373658	ensembl	human	known	74_37	missense	62.00	18	31	SNP	1.000	T
BAI2	576	genome.wustl.edu	37	1	32221807	32221807	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:32221807C>T	ENST00000373658.3	-	4	972	c.631G>A	c.(631-633)Gct>Act	p.A211T	BAI2_ENST00000398538.1_Missense_Mutation_p.A199T|BAI2_ENST00000527361.1_Missense_Mutation_p.A211T|BAI2_ENST00000398556.3_Missense_Mutation_p.A214T|BAI2_ENST00000373655.2_Missense_Mutation_p.A211T|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000257070.4_Missense_Mutation_p.A211T|BAI2_ENST00000398542.1_Missense_Mutation_p.A199T|BAI2_ENST00000398547.1_Missense_Mutation_p.A199T	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	211					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A211T(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGCCGGCAGCGCGGCCACAC	0.647																																																	1	Substitution - Missense(1)	prostate(1)											25.0	31.0	29.0					1																	32221807		2199	4298	6497	SO:0001583	missense	0			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.631G>A	1.37:g.32221807C>T	ENSP00000362762:p.Ala211Thr		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.A211T	ENST00000373658.3	37	c.631	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867277	0.32977	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.41400	1.67;1.86;1.05;1.05;2.02;1.0;1.0;1.06;1.64;1.49	5.2	1.99	0.26369	.	0.168757	0.28641	N	0.014640	T	0.26122	0.0637	N	0.12182	0.205	0.09310	N	0.999999	P;D;D;P;D;D	0.63046	0.918;0.961;0.992;0.924;0.961;0.987	B;B;P;B;B;P	0.52189	0.109;0.387;0.692;0.147;0.409;0.496	T	0.12041	-1.0563	10	0.12766	T	0.61	.	4.5381	0.12043	0.2666:0.5245:0.1302:0.0787	.	199;211;199;199;211;211	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	T	214;199;211;211;199;211;211;199;204;245	ENSP00000381564:A214T;ENSP00000381555:A199T;ENSP00000362762:A211T;ENSP00000362759:A211T;ENSP00000381550:A199T;ENSP00000257070:A211T;ENSP00000435397:A211T;ENSP00000381548:A199T;ENSP00000410921:A204T;ENSP00000437219:A245T	ENSP00000257070:A211T	A	-	1	0	BAI2	31994394	0.000000	0.05858	0.162000	0.22713	0.969000	0.65631	-0.199000	0.09491	0.649000	0.30751	0.462000	0.41574	GCT	BAI2	-	NULL	ENSG00000121753		0.647	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	-	0.00	21	0	C	NM_001703		32221807	-1	tier1	-	no_errors	ENST00000373658	ensembl	human	known	74_37	missense	40.00	12	8	SNP	0.100	T
BAIAP2	10458	genome.wustl.edu	37	17	79006821	79006821	+	5'Flank	SNP	G	G	A	rs574600519	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:79006821G>A	ENST00000321300.6	+	0	0				BAIAP2_ENST00000321280.7_5'Flank|BAIAP2_ENST00000428708.2_5'Flank|BAIAP2_ENST00000575712.1_5'Flank|BAIAP2-AS1_ENST00000577066.1_lincRNA|BAIAP2_ENST00000575245.1_5'Flank|BAIAP2_ENST00000435091.3_5'Flank|BAIAP2_ENST00000392411.3_5'Flank	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2						actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCCCTTGGACGGGAGTAGCGC	0.632													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18899	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001631	upstream_gene_variant	0			AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698		17.37:g.79006821G>A	Exception_encountered		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	RNA	SNP	-	NULL	ENST00000321300.6	37	NULL	CCDS11775.1	17																																																																																			BAIAP2-AS1	-	-	ENSG00000226137		0.632	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	BAIAP2-AS1	HGNC	protein_coding	OTTHUMT00000438553.1	-	0.00	69	0	G			79006821	-1	tier1	-	no_errors	ENST00000573167	ensembl	human	known	74_37	rna	28.57	30	12	SNP	0.000	A
BAIAP2	10458	genome.wustl.edu	37	17	79077331	79077331	+	Silent	SNP	G	G	A	rs371666322		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:79077331G>A	ENST00000321300.6	+	8	765	c.672G>A	c.(670-672)ccG>ccA	p.P224P	BAIAP2_ENST00000321280.7_Silent_p.P224P|BAIAP2_ENST00000428708.2_Silent_p.P224P|BAIAP2_ENST00000575712.1_Silent_p.P224P|BAIAP2_ENST00000416299.2_Silent_p.P87P|BAIAP2_ENST00000575245.1_Silent_p.P257P|BAIAP2_ENST00000435091.3_Silent_p.P224P|BAIAP2_ENST00000392411.3_Silent_p.P146P	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	224	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGAAGCTGCCGCTGTGGCAAC	0.697																																																	0								G	,,,	0,4346		0,0,2173	9.0	10.0	10.0		672,672,672,672	-9.9	0.7	17		10	1,8513		0,1,4256	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP2	NM_001144888.1,NM_006340.2,NM_017450.2,NM_017451.2	,,,	0,1,6429	AA,AG,GG		0.0117,0.0,0.0078	,,,	224/535,224/521,224/522,224/553	79077331	1,12859	2173	4257	6430	SO:0001819	synonymous_variant	0			AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.672G>A	17.37:g.79077331G>A			O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.P224	ENST00000321300.6	37	c.672	CCDS11775.1	17																																																																																			BAIAP2	-	pfam_IRSp53/MIM_homology_IMD	ENSG00000175866		0.697	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	BAIAP2	HGNC	protein_coding	OTTHUMT00000438553.1	-	0.00	16	0	G			79077331	+1	tier1	-	no_errors	ENST00000321300	ensembl	human	known	74_37	silent	41.67	7	5	SNP	0.001	A
BATF	10538	genome.wustl.edu	37	14	76012833	76012833	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:76012833C>T	ENST00000286639.6	+	3	455	c.197C>T	c.(196-198)gCg>gTg	p.A66V	BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	66	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		AAACAGAACGCGGCTCTACGC	0.612																																																	0													69.0	56.0	60.0					14																	76012833		2203	4300	6503	SO:0001583	missense	0			AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"""basic leucine zipper proteins"""	958	protein-coding gene	gene with protein product	"""activating transcription factor B"", ""SF-HT-activated gene 2"""	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.197C>T	14.37:g.76012833C>T	ENSP00000286639:p.Ala66Val			Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.A66V	ENST00000286639.6	37	c.197	CCDS9843.1	14	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034403	0.93575	.	.	ENSG00000156127	ENST00000286639	T	0.55052	0.54	5.61	5.61	0.85477	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.052350	0.85682	D	0.000000	T	0.64724	0.2624	L	0.38692	1.165	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.63444	-0.6636	10	0.46703	T	0.11	-9.1722	17.8178	0.88640	0.0:1.0:0.0:0.0	.	66	Q16520	BATF_HUMAN	V	66	ENSP00000286639:A66V	ENSP00000286639:A66V	A	+	2	0	BATF	75082586	1.000000	0.71417	0.927000	0.36925	0.991000	0.79684	7.044000	0.76578	2.636000	0.89361	0.655000	0.94253	GCG	BATF	-	pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	ENSG00000156127		0.612	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BATF	HGNC	protein_coding	OTTHUMT00000413669.1	-	0.00	49	0	C	NM_006399		76012833	+1	tier1	-	no_errors	ENST00000286639	ensembl	human	known	74_37	missense	43.33	16	13	SNP	1.000	T
BAX	581	genome.wustl.edu	37	19	49458971	49458971	+	Frame_Shift_Del	DEL	G	G	-	rs141306106|rs398122842|rs398122841		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:49458971delG	ENST00000345358.7	+	3	166	c.114delG	c.(112-114)atgfs	p.M38fs	BAX_ENST00000391871.3_Frame_Shift_Del_p.W21fs|BAX_ENST00000539787.1_Frame_Shift_Del_p.M38fs|BAX_ENST00000293288.8_Frame_Shift_Del_p.M38fs|BAX_ENST00000354470.3_Intron|BAX_ENST00000415969.2_Frame_Shift_Del_p.M38fs	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	38					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|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 (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.E41fs*19(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		CAGGGCGAATGGGGGGGGAGG	0.592																																																	1	Deletion - Frameshift(1)	lung(1)											59.0	57.0	57.0					19																	49458971		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.114delG	19.37:g.49458971delG	ENSP00000263262:p.Met38fs		A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Frame_Shift_Del	DEL	pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam	p.E41fs	ENST00000345358.7	37	c.114	CCDS12742.1	19																																																																																			BAX	-	NULL	ENSG00000087088		0.592	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BAX	HGNC	protein_coding	OTTHUMT00000360767.1		0.00	79	0	G	NM_138763		49458971	+1	tier1		no_errors	ENST00000293288	ensembl	human	known	74_37	frame_shift_del	25.71	52	18	DEL	0.588	-
BAZ2A	11176	genome.wustl.edu	37	12	56992712	56992712	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:56992712C>T	ENST00000551812.1	-	28	5685	c.5492G>A	c.(5491-5493)cGg>cAg	p.R1831Q	BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1829Q|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1801Q|BAZ2A_ENST00000179765.5_Missense_Mutation_p.R1799Q|BAZ2A_ENST00000553222.1_5'Flank	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1831	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GATGATGCGCCGGTACCCACT	0.537																																																	0													30.0	31.0	31.0					12																	56992712		1911	4124	6035	SO:0001583	missense	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.5492G>A	12.37:g.56992712C>T	ENSP00000446880:p.Arg1831Gln		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.R1831Q	ENST00000551812.1	37	c.5492	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378276	0.82682	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18	5.85	4.96	0.65561	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.48205	0.1487	M	0.79805	2.47	0.54753	D	0.999987	D;D;D;P	0.76494	0.999;0.993;0.998;0.804	D;D;D;B	0.77557	0.99;0.92;0.933;0.11	T	0.51710	-0.8671	10	0.49607	T	0.09	-12.2888	14.4384	0.67298	0.0:0.928:0.0:0.072	.	1829;1827;1831;1804	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	Q	1801;1799;1831;763;1829	ENSP00000368754:R1801Q;ENSP00000179765:R1799Q;ENSP00000446880:R1831Q;ENSP00000448760:R763Q;ENSP00000447941:R1829Q	ENSP00000179765:R1799Q	R	-	2	0	BAZ2A	55278979	1.000000	0.71417	0.998000	0.56505	0.769000	0.43574	2.872000	0.48467	1.626000	0.50381	0.655000	0.94253	CGG	BAZ2A	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000076108		0.537	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	-	0.00	30	0	C	NM_013449		56992712	-1	tier1	-	no_errors	ENST00000551812	ensembl	human	known	74_37	missense	52.63	9	10	SNP	1.000	T
BAZ2A	11176	genome.wustl.edu	37	12	56995512	56995512	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:56995512G>T	ENST00000551812.1	-	20	4088	c.3895C>A	c.(3895-3897)Cca>Aca	p.P1299T	BAZ2A_ENST00000549884.1_Missense_Mutation_p.P1297T|BAZ2A_ENST00000379441.3_Missense_Mutation_p.P1269T|BAZ2A_ENST00000179765.5_Missense_Mutation_p.P1267T|BAZ2A_ENST00000553222.1_5'Flank	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1299	Pro-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GATGGAGCTGGGTCTAGTTTT	0.572																																																	0													157.0	166.0	163.0					12																	56995512		2049	4200	6249	SO:0001583	missense	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3895C>A	12.37:g.56995512G>T	ENSP00000446880:p.Pro1299Thr		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.P1299T	ENST00000551812.1	37	c.3895	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	G	2.843	-0.240133	0.05944	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.72394	-0.29;-0.27;-0.28;-0.65;-0.31	4.68	0.678	0.17969	.	0.466207	0.21200	N	0.078499	T	0.52370	0.1730	N	0.22421	0.69	0.20821	N	0.999846	B;B;B;B	0.22414	0.069;0.069;0.02;0.069	B;B;B;B	0.27715	0.05;0.082;0.016;0.05	T	0.40040	-0.9584	10	0.34782	T	0.22	.	7.6573	0.28383	0.4582:0.0:0.5418:0.0	.	1297;1299;1299;1272	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	T	1269;1267;1299;235;1297	ENSP00000368754:P1269T;ENSP00000179765:P1267T;ENSP00000446880:P1299T;ENSP00000448760:P235T;ENSP00000447941:P1297T	ENSP00000179765:P1267T	P	-	1	0	BAZ2A	55281779	0.364000	0.24997	0.289000	0.24876	0.188000	0.23474	0.612000	0.24283	0.038000	0.15604	0.655000	0.94253	CCA	BAZ2A	-	NULL	ENSG00000076108		0.572	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	-	0.00	38	0	G	NM_013449		56995512	-1	tier1	-	no_errors	ENST00000551812	ensembl	human	known	74_37	missense	56.41	17	22	SNP	0.471	T
BAZ2A	11176	genome.wustl.edu	37	12	57000030	57000030	+	Splice_Site	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:57000030C>T	ENST00000551812.1	-	12	2459		c.e12+1		BAZ2A_ENST00000549884.1_Splice_Site|BAZ2A_ENST00000379441.3_Splice_Site|BAZ2A_ENST00000179765.5_Splice_Site	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A						chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CATGCACCTACCTTGGATTTC	0.398																																																	0													167.0	147.0	153.0					12																	57000030		1886	4126	6012	SO:0001630	splice_region_variant	0			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.2265+1G>A	12.37:g.57000030C>T			B3KN66|O00536|O15030|Q68DI8|Q96H26	Splice_Site	SNP	-	e12+1	ENST00000551812.1	37	c.2265+1	CCDS44924.1	12	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731528	0.69189	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884;ENST00000547650	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.024	0.71653	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAZ2A	55286297	1.000000	0.71417	0.995000	0.50966	0.950000	0.60333	3.541000	0.53618	2.611000	0.88343	0.655000	0.94253	.	BAZ2A	-	-	ENSG00000076108		0.398	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAZ2A	HGNC	protein_coding	OTTHUMT00000408561.1	-	0.00	187	0	C	NM_013449	Intron	57000030	-1	tier1	-	no_errors	ENST00000551812	ensembl	human	known	74_37	splice_site	32.46	129	62	SNP	1.000	T
BBS10	79738	genome.wustl.edu	37	12	76741019	76741019	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:76741019C>T	ENST00000393262.3	-	2	829	c.746G>A	c.(745-747)cGc>cAc	p.R249H		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	249					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						ATCTGCTGGGCGGTACACAGA	0.428									Bardet-Biedl syndrome																																								0													73.0	64.0	67.0					12																	76741019		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.746G>A	12.37:g.76741019C>T	ENSP00000376946:p.Arg249His		Q96CW2|Q9H5D2	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	p.R249H	ENST00000393262.3	37	c.746	CCDS9014.2	12	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455267	0.63401	.	.	ENSG00000179941	ENST00000393262	T	0.78595	-1.19	5.13	5.13	0.70059	.	0.186307	0.48286	D	0.000192	T	0.68504	0.3008	N	0.22421	0.69	0.24605	N	0.99375	P	0.39157	0.662	B	0.37943	0.261	T	0.66806	-0.5830	10	0.54805	T	0.06	-0.7116	18.1122	0.89539	0.0:1.0:0.0:0.0	.	249	Q8TAM1	BBS10_HUMAN	H	249	ENSP00000376946:R249H	ENSP00000376946:R249H	R	-	2	0	BBS10	75265150	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.593000	0.67550	2.827000	0.97445	0.650000	0.86243	CGC	BBS10	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom	ENSG00000179941		0.428	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS10	HGNC	protein_coding	OTTHUMT00000303983.2	-	0.00	34	0	C	NM_024685		76741019	-1	tier1	-	no_errors	ENST00000393262	ensembl	human	known	74_37	missense	35.29	22	12	SNP	1.000	T
BBS9	27241	genome.wustl.edu	37	7	33296864	33296864	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:33296864C>T	ENST00000242067.6	+	6	980	c.459C>T	c.(457-459)tgC>tgT	p.C153C	BBS9_ENST00000355070.2_Silent_p.C153C|BBS9_ENST00000425508.2_Silent_p.C108C|BBS9_ENST00000350941.3_Silent_p.C153C|BBS9_ENST00000354265.4_Silent_p.C153C|BBS9_ENST00000396127.2_Silent_p.C153C	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	153					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			ATTTAATTTGCATCCAGTCTA	0.343									Bardet-Biedl syndrome																																								0													124.0	117.0	120.0					7																	33296864		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.459C>T	7.37:g.33296864C>T			E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Silent	SNP	NULL	p.C153	ENST00000242067.6	37	c.459	CCDS43566.1	7																																																																																			BBS9	-	NULL	ENSG00000122507		0.343	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	-	0.00	52	0	C			33296864	+1	tier1	-	no_errors	ENST00000242067	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.998	T
BCAP29	55973	genome.wustl.edu	37	7	107221266	107221266	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:107221266G>T	ENST00000005259.4	+	2	388	c.49G>T	c.(49-51)Gga>Tga	p.G17*	BCAP29_ENST00000445771.2_Nonsense_Mutation_p.G17*|BCAP29_ENST00000379117.2_Nonsense_Mutation_p.G17*|BCAP29_ENST00000494086.1_Intron|BCAP29_ENST00000379119.2_Nonsense_Mutation_p.G17*|RP4-593H12.1_ENST00000610269.1_RNA|BCAP29_ENST00000465919.1_Intron	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	17					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						TGCCGAAATAGGACTCATTTT	0.363																																																	0													103.0	92.0	96.0					7																	107221266		2203	4300	6503	SO:0001587	stop_gained	0				CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.49G>T	7.37:g.107221266G>T	ENSP00000005259:p.Gly17*		G5E9L4|O95003	Nonsense_Mutation	SNP	pfam_Bap31	p.G17*	ENST00000005259.4	37	c.49	CCDS34731.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.612045	0.97705	.	.	ENSG00000075790	ENST00000005259;ENST00000445771;ENST00000479917;ENST00000421217;ENST00000457837;ENST00000379117;ENST00000473124;ENST00000379119	.	.	.	4.63	4.63	0.57726	.	0.056410	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-6.8811	16.2143	0.82195	0.0:0.0:1.0:0.0	.	.	.	.	X	17	.	ENSP00000005259:G17X	G	+	1	0	BCAP29	107008502	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.886000	0.87288	2.548000	0.85928	0.655000	0.94253	GGA	BCAP29	-	pfam_Bap31	ENSG00000075790		0.363	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BCAP29	HGNC	protein_coding	OTTHUMT00000337011.2	-	0.00	33	0	G	NM_018844		107221266	+1	tier1	-	no_errors	ENST00000379119	ensembl	human	known	74_37	nonsense	41.67	28	20	SNP	1.000	T
BCHE	590	genome.wustl.edu	37	3	165547749	165547749	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:165547749delA	ENST00000264381.3	-	2	1239	c.1073delT	c.(1072-1074)ttafs	p.L358fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	358			L -> I (in BChE deficiency; BChE variant form; fluoride-resistant; Japanese type; dbSNP:rs121918557). {ECO:0000269|PubMed:10404729, ECO:0000269|PubMed:8680411, ECO:0000269|PubMed:9191541, ECO:0000269|PubMed:9388484}.		cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	ACCATAGACTAAAAAAGCTGT	0.348																																																	0													27.0	28.0	28.0					3																	165547749		2199	4291	6490	SO:0001589	frameshift_variant	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1073delT	3.37:g.165547749delA	ENSP00000264381:p.Leu358fs		A8K7P8	Frame_Shift_Del	DEL	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.L358fs	ENST00000264381.3	37	c.1073	CCDS3198.1	3																																																																																			BCHE	-	pfam_CarbesteraseB,prints_Cholinesterase	ENSG00000114200		0.348	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1		0.00	36	0	A			165547749	-1	tier1		no_errors	ENST00000264381	ensembl	human	known	74_37	frame_shift_del	39.34	37	24	DEL	0.998	-
BCL2L2	599	genome.wustl.edu	37	14	23778157	23778157	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:23778157delT	ENST00000250405.5	+	4	794	c.565delT	c.(565-567)tttfs	p.F190fs	BCL2L2-PABPN1_ENST00000553781.1_Intron|BCL2L2-PABPN1_ENST00000557008.1_Intron	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041	Q92843	B2CL2_HUMAN	BCL2-like 2	190					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|Sertoli cell proliferation (GO:0060011)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		TGTAGGGGCCTTTTTTGCTAG	0.632																																																	0													40.0	45.0	43.0					14																	23778157		2203	4300	6503	SO:0001589	frameshift_variant	0			D87461	CCDS9591.1	14q11.2-q12	2014-03-07			ENSG00000129473	ENSG00000129473		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	995	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 51"""	601931				8761287	Standard	NM_001199839		Approved	KIAA0271, BCL-W, PPP1R51		Q92843	OTTHUMG00000028738	ENST00000250405.5:c.565delT	14.37:g.23778157delT	ENSP00000250405:p.Phe190fs		A8K0F4|Q2M3U0|Q5U0H4	Frame_Shift_Del	DEL	pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_BclW,prints_Blc2_fam	p.F190fs	ENST00000250405.5	37	c.565	CCDS9591.1	14																																																																																			BCL2L2	-	NULL	ENSG00000129473		0.632	BCL2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2L2	HGNC	protein_coding	OTTHUMT00000071763.3		0.00	34	0	T	NM_004050		23778157	+1	tier1		no_errors	ENST00000250405	ensembl	human	known	74_37	frame_shift_del	31.58	13	6	DEL	1.000	-
BCL9L	283149	genome.wustl.edu	37	11	118768995	118768995	+	3'UTR	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:118768995C>A	ENST00000334801.3	-	0	5593				BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like						canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGCCACTCCCTACACAAGCC	0.562																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.*129G>T	11.37:g.118768995C>A			A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	RNA	SNP	-	NULL	ENST00000334801.3	37	NULL	CCDS8403.1	11																																																																																			BCL9L	-	-	ENSG00000186174		0.562	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	-	0.00	21	0	C	NM_182557		118768995	-1	tier1	-	no_errors	ENST00000526143	ensembl	human	known	74_37	rna	33.33	10	5	SNP	0.997	A
BCORL1	63035	genome.wustl.edu	37	X	129149744	129149744	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:129149744delC	ENST00000218147.7	+	4	3193	c.2996delC	c.(2995-2997)accfs	p.T999fs	BCORL1_ENST00000540052.1_Frame_Shift_Del_p.T999fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.T999fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.T999fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	999					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GTCCTGGCCACCCCCCAGAAC	0.607																																																	0													78.0	79.0	79.0					X																	129149744		2203	4300	6503	SO:0001589	frameshift_variant	0			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.2996delC	X.37:g.129149744delC	ENSP00000218147:p.Thr999fs		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q1001fs	ENST00000218147.7	37	c.2996	CCDS14616.1	X																																																																																			BCORL1	-	NULL	ENSG00000085185		0.607	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1		0.00	53	0	C	NM_021946		129149744	+1	tier1		no_errors	ENST00000303743	ensembl	human	known	74_37	frame_shift_del	64.00	9	16	DEL	0.986	-
BDH2	56898	genome.wustl.edu	37	4	104016363	104016363	+	Missense_Mutation	SNP	G	G	T	rs200156996		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:104016363G>T	ENST00000296424.4	-	3	268	c.148C>A	c.(148-150)Ccg>Acg	p.P50T		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	50					epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		TGCTTACCCGGGTACTTTTCC	0.418																																																	0													116.0	106.0	110.0					4																	104016363		2203	4300	6503	SO:0001583	missense	0			AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	32389	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 15C, member 1"""		"""dehydrogenase/reductase (SDR family) member 6"""	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.148C>A	4.37:g.104016363G>T	ENSP00000296424:p.Pro50Thr		A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect	p.P50T	ENST00000296424.4	37	c.148	CCDS3663.1	4	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770703	0.69992	.	.	ENSG00000164039	ENST00000296424;ENST00000504285;ENST00000509245	T;T;D	0.86865	1.09;0.76;-2.18	4.85	3.95	0.45737	NAD(P)-binding domain (1);	0.766837	0.12767	N	0.440887	T	0.72244	0.3436	N	0.05031	-0.125	0.31530	N	0.661282	B	0.06786	0.001	B	0.08055	0.003	T	0.67317	-0.5701	10	0.23891	T	0.37	.	9.9994	0.41920	0.0:0.1462:0.7037:0.1501	.	50	Q9BUT1	BDH2_HUMAN	T	50	ENSP00000296424:P50T;ENSP00000427442:P50T;ENSP00000422891:P50T	ENSP00000296424:P50T	P	-	1	0	BDH2	104235812	0.981000	0.34729	0.932000	0.37286	0.877000	0.50540	0.727000	0.25999	2.397000	0.81536	0.563000	0.77884	CCG	BDH2	-	pfam_DH_sc/Rdtase_SDR	ENSG00000164039		0.418	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDH2	HGNC	protein_coding	OTTHUMT00000157159.2	-	0.00	70	0	G	NM_020139		104016363	-1	tier1	-	no_errors	ENST00000296424	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.698	T
BDNF	627	genome.wustl.edu	37	11	27679080	27679081	+	3'UTR	INS	-	-	T	rs551271356		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:27679080_27679081insT	ENST00000525528.1	-	0	2124_2125				BDNF_ENST00000314915.6_3'UTR|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000418212.1_3'UTR|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000356660.4_3'UTR|BDNF_ENST00000395986.2_3'UTR|BDNF_ENST00000395980.2_3'UTR|BDNF_ENST00000420794.1_3'UTR|BDNF_ENST00000533246.1_3'UTR|BDNF_ENST00000530861.1_3'UTR|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000395983.3_3'UTR|BDNF_ENST00000395978.3_3'UTR|BDNF_ENST00000439476.2_3'UTR|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000438929.1_3'UTR|BDNF_ENST00000525950.1_3'UTR|BDNF_ENST00000395981.3_3'UTR|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000532997.1_3'UTR|BDNF_ENST00000533131.1_3'UTR|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF-AS_ENST00000500662.2_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor						axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						GCAATTTATTATTTTTTTTAAC	0.307																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.*288->A	11.37:g.27679088_27679088dupT			A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	RNA	INS	-	NULL	ENST00000525528.1	37	NULL	CCDS7866.1	11																																																																																			BDNF	-	-	ENSG00000176697		0.307	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BDNF	HGNC	protein_coding	OTTHUMT00000388135.1		0.00	15	0	-	NM_170735		27679081	-1	tier1		no_errors	ENST00000584049	ensembl	human	known	74_37	rna	50.00	6	6	INS	0.395:1.000	T
BDP1	55814	genome.wustl.edu	37	5	70766232	70766233	+	Frame_Shift_Ins	INS	-	-	T	rs567681041		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:70766232_70766233insT	ENST00000358731.4	+	7	1193_1194	c.930_931insT	c.(931-933)tttfs	p.F311fs	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	311	Myb-like.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAACAGATATGTTTTTTTTAGC	0.292																																																	0																																										SO:0001589	frameshift_variant	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.938dupT	5.37:g.70766240_70766240dupT	ENSP00000351575:p.Phe311fs		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Frame_Shift_Ins	INS	superfamily_Homeodomain-like,smart_SANT/Myb	p.L312fs	ENST00000358731.4	37	c.930_931	CCDS43328.1	5																																																																																			BDP1	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000145734		0.292	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2		0.00	32	0	-	NM_018429		70766233	+1	tier1		no_errors	ENST00000358731	ensembl	human	known	74_37	frame_shift_ins	34.78	30	16	INS	1.000:1.000	T
BEND3	57673	genome.wustl.edu	37	6	107391188	107391188	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:107391188C>T	ENST00000369042.1	-	4	1397	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	BEND3_ENST00000429433.2_Missense_Mutation_p.E403K			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	403	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GAGGAGGCTTCGTCCAGGAAC	0.617																																																	0													66.0	68.0	68.0					6																	107391188		2203	4300	6503	SO:0001583	missense	0			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1207G>A	6.37:g.107391188C>T	ENSP00000358038:p.Glu403Lys		A2RRH2|Q9HCL9	Missense_Mutation	SNP	pfam_BEN_domain	p.E403K	ENST00000369042.1	37	c.1207	CCDS34507.1	6	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944114	0.73672	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.32	5.32	0.75619	BEN domain (1);	0.000000	0.85682	D	0.000000	T	0.66127	0.2758	L	0.47716	1.5	0.58432	D	0.999999	D	0.76494	0.999	P	0.58721	0.844	T	0.67534	-0.5646	9	0.62326	D	0.03	-17.9509	19.1834	0.93632	0.0:1.0:0.0:0.0	.	403	Q5T5X7	BEND3_HUMAN	K	403	.	ENSP00000358038:E403K	E	-	1	0	BEND3	107497881	1.000000	0.71417	0.994000	0.49952	0.592000	0.36648	7.219000	0.78000	2.774000	0.95407	0.561000	0.74099	GAA	BEND3	-	NULL	ENSG00000178409		0.617	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	-	0.00	26	0	C	NM_020913		107391188	-1	tier1	-	no_errors	ENST00000369042	ensembl	human	known	74_37	missense	39.39	20	13	SNP	1.000	T
BEND3	57673	genome.wustl.edu	37	6	107391210	107391210	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:107391210C>A	ENST00000369042.1	-	4	1375	c.1185G>T	c.(1183-1185)caG>caT	p.Q395H	BEND3_ENST00000429433.2_Missense_Mutation_p.Q395H			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	395	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CAGTGAGGTCCTGCGTGTCCA	0.632																																																	0													72.0	73.0	73.0					6																	107391210		2203	4300	6503	SO:0001583	missense	0			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1185G>T	6.37:g.107391210C>A	ENSP00000358038:p.Gln395His		A2RRH2|Q9HCL9	Missense_Mutation	SNP	pfam_BEN_domain	p.Q395H	ENST00000369042.1	37	c.1185	CCDS34507.1	6	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992147	0.35131	.	.	ENSG00000178409	ENST00000369042;ENST00000429433	.	.	.	5.32	4.46	0.54185	BEN domain (1);	0.074711	0.56097	D	0.000028	T	0.28366	0.0701	L	0.34521	1.04	0.43088	D	0.994756	B	0.24963	0.115	B	0.21546	0.035	T	0.17077	-1.0381	9	0.39692	T	0.17	1.189	10.3564	0.43967	0.0:0.8509:0.0:0.1491	.	395	Q5T5X7	BEND3_HUMAN	H	395	.	ENSP00000358038:Q395H	Q	-	3	2	BEND3	107497903	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.422000	0.34826	1.492000	0.48499	0.561000	0.74099	CAG	BEND3	-	NULL	ENSG00000178409		0.632	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	-	0.00	34	0	C	NM_020913		107391210	-1	tier1	-	no_errors	ENST00000369042	ensembl	human	known	74_37	missense	50.00	14	14	SNP	1.000	A
BEND7	222389	genome.wustl.edu	37	10	13568140	13568140	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:13568140delA	ENST00000396900.2	-	2	142	c.143delT	c.(142-144)ttafs	p.L48fs	RP11-214D15.2_ENST00000438431.1_RNA|BEND7_ENST00000396898.2_Frame_Shift_Del_p.L48fs			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	48						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						GAACCTACCTAAAAAAATGGG	0.423																																																	0																																										SO:0001589	frameshift_variant	0			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.143delT	10.37:g.13568140delA	ENSP00000380108:p.Leu48fs		Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Frame_Shift_Del	DEL	pfam_BEN_domain	p.L48fs	ENST00000396900.2	37	c.143		10																																																																																			BEND7	-	NULL	ENSG00000165626		0.423	BEND7-202	KNOWN	basic	protein_coding	BEND7	HGNC	protein_coding			0.00	59	0	A	NM_152751		13568140	-1	tier1		no_errors	ENST00000396900	ensembl	human	known	74_37	frame_shift_del	28.38	53	21	DEL	1.000	-
BEST3	144453	genome.wustl.edu	37	12	70049362	70049362	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:70049362delG	ENST00000330891.5	-	10	1558	c.1332delC	c.(1330-1332)cccfs	p.P444fs	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Frame_Shift_Del_p.P338fs|BEST3_ENST00000488961.1_Frame_Shift_Del_p.P231fs	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	444					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTGAGGCCCTGGGGGGGTTTC	0.592																																																	0													76.0	78.0	78.0					12																	70049362		1929	4152	6081	SO:0001589	frameshift_variant	0			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1332delC	12.37:g.70049362delG	ENSP00000332413:p.Pro444fs		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Del	DEL	pfam_Bestrophin/UPF0187	p.R445fs	ENST00000330891.5	37	c.1332	CCDS8992.2	12																																																																																			BEST3	-	NULL	ENSG00000127325		0.592	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST3	HGNC	protein_coding	OTTHUMT00000313908.2		0.00	95	0	G	NM_152439		70049362	-1	tier1		no_errors	ENST00000330891	ensembl	human	known	74_37	frame_shift_del	34.67	49	26	DEL	0.001	-
BHLHA15	168620	genome.wustl.edu	37	7	97841874	97841874	+	Silent	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:97841874C>A	ENST00000609256.1	+	2	379	c.253C>A	c.(253-255)Cgg>Agg	p.R85R	BHLHA15_ENST00000314018.2_Silent_p.R85R			Q7RTS1	BHA15_HUMAN	basic helix-loop-helix family, member a15	85	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|Golgi organization (GO:0007030)|intracellular distribution of mitochondria (GO:0048312)|mitochondrial calcium ion transport (GO:0006851)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)										CGAGAGGGAGCGGCAGCGGAT	0.682																																																	0													32.0	27.0	29.0					7																	97841874		2182	4262	6444	SO:0001819	synonymous_variant	0			BK000276	CCDS5655.1	7q21.3	2009-01-12	2009-01-12	2009-01-12	ENSG00000180535	ENSG00000180535		"""Basic helix-loop-helix proteins"""	22265	protein-coding gene	gene with protein product		608606	"""basic helix-loop-helix domain containing, class B, 8"""	BHLHB8		14516699, 18557763	Standard	NM_177455		Approved	MIST1, bHLHa15	uc003upf.1	Q7RTS1	OTTHUMG00000154289	ENST00000609256.1:c.253C>A	7.37:g.97841874C>A			A4D271|Q14DE4	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R85	ENST00000609256.1	37	c.253	CCDS5655.1	7																																																																																			BHLHA15	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000180535		0.682	BHLHA15-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	BHLHA15	HGNC	protein_coding	OTTHUMT00000472733.1	-	0.00	20	0	C	NM_177455		97841874	+1	tier1	-	no_errors	ENST00000314018	ensembl	human	known	74_37	silent	50.00	7	7	SNP	0.995	A
BICD1	636	genome.wustl.edu	37	12	32491758	32491758	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:32491758G>T	ENST00000281474.5	+	8	2712	c.2609G>T	c.(2608-2610)aGg>aTg	p.R870M	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	870					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCCGTCCCAGGACTTCAGGG	0.423																																																	0													105.0	118.0	114.0					12																	32491758		2203	4300	6503	SO:0001583	missense	0			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2609G>T	12.37:g.32491758G>T	ENSP00000281474:p.Arg870Met		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom	p.R870M	ENST00000281474.5	37	c.2609	CCDS8726.1	12	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715795	0.68844	.	.	ENSG00000151746	ENST00000281474	T	0.53857	0.6	5.61	5.61	0.85477	.	0.000000	0.52532	D	0.000070	T	0.52693	0.1750	N	0.08118	0	0.80722	D	1	D	0.61080	0.989	P	0.61533	0.89	T	0.63242	-0.6681	10	0.87932	D	0	.	17.8174	0.88639	0.0:0.0:1.0:0.0	.	870	Q96G01	BICD1_HUMAN	M	870	ENSP00000281474:R870M	ENSP00000281474:R870M	R	+	2	0	BICD1	32383025	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.170000	0.58229	2.649000	0.89929	0.591000	0.81541	AGG	BICD1	-	NULL	ENSG00000151746		0.423	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICD1	HGNC	protein_coding	OTTHUMT00000403380.1	-	0.00	46	0	G	NM_001714		32491758	+1	tier1	-	no_errors	ENST00000281474	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T
BICD2	23299	genome.wustl.edu	37	9	95481635	95481635	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:95481635C>A	ENST00000375512.3	-	5	1359	c.1292G>T	c.(1291-1293)gGg>gTg	p.G431V	BICD2_ENST00000356884.6_Missense_Mutation_p.G431V	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	431					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GATCTCAGGCCCGTTGATGTC	0.642																																																	0													139.0	111.0	120.0					9																	95481635		2203	4300	6503	SO:0001583	missense	0			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1292G>T	9.37:g.95481635C>A	ENSP00000364662:p.Gly431Val		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc	p.G431V	ENST00000375512.3	37	c.1292	CCDS6700.1	9	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315092	0.81358	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.54675	0.56;0.56	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.70902	0.3277	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68307	-0.5443	10	0.33141	T	0.24	-68.9516	16.6104	0.84881	0.0:1.0:0.0:0.0	.	431;431	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	V	431	ENSP00000349351:G431V;ENSP00000364662:G431V	ENSP00000349351:G431V	G	-	2	0	BICD2	94521456	1.000000	0.71417	0.952000	0.39060	0.915000	0.54546	7.714000	0.84703	2.605000	0.88082	0.561000	0.74099	GGG	BICD2	-	pfam_Bicaudal-D_microtubule-assoc	ENSG00000185963		0.642	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BICD2	HGNC	protein_coding	OTTHUMT00000055508.1	-	0.00	92	0	C	NM_015250		95481635	-1	tier1	-	no_errors	ENST00000356884	ensembl	human	known	74_37	missense	48.53	35	33	SNP	1.000	A
BIRC6	57448	genome.wustl.edu	37	2	32626374	32626374	+	Missense_Mutation	SNP	C	C	T	rs545030293		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:32626374C>T	ENST00000421745.2	+	7	1312	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	393					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGCTTTGGGTCGGGGAGCTGC	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		19147	0.0		0.0	False		,,,				2504	0.001				Pancreas(94;175 1509 16028 18060 45422)												0													202.0	200.0	201.0					2																	32626374		2203	4300	6503	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.1178C>T	2.37:g.32626374C>T	ENSP00000393596:p.Ser393Leu		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.S393L	ENST00000421745.2	37	c.1178	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643708	0.67244	.	.	ENSG00000115760	ENST00000421745	T	0.74106	-0.81	5.42	5.42	0.78866	WD40/YVTN repeat-like-containing domain (1);	0.168506	0.42172	D	0.000755	T	0.61640	0.2363	N	0.24115	0.695	0.38644	D	0.951688	B	0.20671	0.047	B	0.12156	0.007	T	0.63084	-0.6716	10	0.66056	D	0.02	.	12.5522	0.56233	0.0:0.9237:0.0:0.0763	.	393	Q9NR09	BIRC6_HUMAN	L	393	ENSP00000393596:S393L	ENSP00000393596:S393L	S	+	2	0	BIRC6	32479878	1.000000	0.71417	0.960000	0.40013	0.997000	0.91878	5.889000	0.69766	2.550000	0.86006	0.491000	0.48974	TCG	BIRC6	-	superfamily_WD40_repeat_dom	ENSG00000115760		0.443	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	-	0.00	109	0	C	NM_016252		32626374	+1	tier1	-	no_errors	ENST00000421745	ensembl	human	known	74_37	missense	43.48	52	40	SNP	0.994	T
BIRC6	57448	genome.wustl.edu	37	2	32740485	32740485	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:32740485G>A	ENST00000421745.2	+	55	11131	c.10997G>A	c.(10996-10998)cGc>cAc	p.R3666H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3666					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AAACTCAGGCGCCATCATGTC	0.433																																					Pancreas(94;175 1509 16028 18060 45422)												0													68.0	65.0	66.0					2																	32740485		2203	4300	6503	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10997G>A	2.37:g.32740485G>A	ENSP00000393596:p.Arg3666His		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.R3666H	ENST00000421745.2	37	c.10997	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	G	13.63	2.294280	0.40594	.	.	ENSG00000115760	ENST00000421745	T	0.74315	-0.83	5.65	5.65	0.86999	.	0.291169	0.33040	N	0.005345	D	0.83700	0.5311	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.82514	-0.0419	10	0.45353	T	0.12	.	19.7253	0.96161	0.0:0.0:1.0:0.0	.	3666	Q9NR09	BIRC6_HUMAN	H	3666	ENSP00000393596:R3666H	ENSP00000393596:R3666H	R	+	2	0	BIRC6	32593989	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	7.421000	0.80204	2.673000	0.90976	0.585000	0.79938	CGC	BIRC6	-	NULL	ENSG00000115760		0.433	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	-	0.00	79	0	G	NM_016252		32740485	+1	tier1	-	no_errors	ENST00000421745	ensembl	human	known	74_37	missense	37.65	52	32	SNP	1.000	A
BLK	640	genome.wustl.edu	37	8	11412845	11412845	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:11412845delG	ENST00000259089.4	+	8	1216	c.624delG	c.(622-624)aagfs	p.K208fs	BLK_ENST00000529894.1_Frame_Shift_Del_p.K137fs|RP11-148O21.3_ENST00000527922.1_RNA|RP11-148O21.6_ENST00000602626.1_lincRNA|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	BLK proto-oncogene, Src family tyrosine kinase	208	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell receptor signaling pathway (GO:0050853)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of insulin secretion (GO:0032024)	plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		ATGCAGAGAAGGGGGATGGTC	0.617																																																	0													64.0	67.0	66.0					8																	11412845		2203	4300	6503	SO:0001589	frameshift_variant	0			BC004473	CCDS5982.1	8p23-p22	2014-06-25	2014-06-25		ENSG00000136573	ENSG00000136573		"""SH2 domain containing"""	1057	protein-coding gene	gene with protein product		191305	"""B lymphoid tyrosine kinase"""			7845672	Standard	NM_001715		Approved	MGC10442	uc003wty.3	P51451	OTTHUMG00000090729	ENST00000259089.4:c.624delG	8.37:g.11412845delG	ENSP00000259089:p.Lys208fs		Q16291|Q96IN1	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.D210fs	ENST00000259089.4	37	c.624	CCDS5982.1	8																																																																																			BLK	-	smart_SH2,pfscan_SH2	ENSG00000136573		0.617	BLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLK	HGNC	protein_coding	OTTHUMT00000207460.1		0.00	36	0	G			11412845	+1	tier1		no_errors	ENST00000259089	ensembl	human	known	74_37	frame_shift_del	31.25	22	10	DEL	0.569	-
BMI1	648	genome.wustl.edu	37	10	22615824	22615824	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:22615824delA	ENST00000376663.3	+	3	623	c.118delA	c.(118-120)aaafs	p.K40fs	COMMD3-BMI1_ENST00000602390.1_Frame_Shift_Del_p.K183fs	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	40					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						TCTAGTCTGTAAAACGTGTAT	0.368																																																	0													146.0	151.0	149.0					10																	22615824		2203	4300	6503	SO:0001589	frameshift_variant	0			BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.118delA	10.37:g.22615824delA	ENSP00000365851:p.Lys40fs		Q16030|Q5T8Z3|Q96F37	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T41fs	ENST00000376663.3	37	c.118	CCDS7138.1	10																																																																																			BMI1	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000168283		0.368	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMI1	HGNC	protein_coding	OTTHUMT00000047176.1		0.00	66	0	A	NM_005180		22615824	+1	tier1		no_errors	ENST00000376663	ensembl	human	known	74_37	frame_shift_del	36.36	49	28	DEL	1.000	-
BLNK	29760	genome.wustl.edu	37	10	97969609	97969609	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:97969609G>A	ENST00000224337.5	-	9	872	c.731C>T	c.(730-732)cCg>cTg	p.P244L	BLNK_ENST00000413476.2_Missense_Mutation_p.P244L|BLNK_ENST00000371176.2_Missense_Mutation_p.P221L|BLNK_ENST00000427367.2_Missense_Mutation_p.P244L	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	244	Pro-rich.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CCGTGGCAACGGGGATGGTGC	0.562																																																	0													153.0	149.0	150.0					10																	97969609		2203	4300	6503	SO:0001583	missense	0			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.731C>T	10.37:g.97969609G>A	ENSP00000224337:p.Pro244Leu		O75498|O75499|Q2MD49	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.P244L	ENST00000224337.5	37	c.731	CCDS7446.1	10	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615717	0.46631	.	.	ENSG00000095585	ENST00000224337;ENST00000371176;ENST00000427367;ENST00000413476;ENST00000537049	.	.	.	5.62	5.62	0.85841	.	0.047441	0.85682	N	0.000000	T	0.77824	0.4188	M	0.70275	2.135	0.52099	D	0.999942	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;0.999	D;P;D;D;D;P	0.91635	0.999;0.811;0.999;0.999;0.998;0.636	T	0.76916	-0.2782	9	0.46703	T	0.11	-18.8044	15.5185	0.75846	0.0:0.0:1.0:0.0	.	221;244;221;139;221;244	Q2MD54;Q2MD49;Q8WV28-2;Q2MD59;Q2MD52;Q8WV28	.;.;.;.;.;BLNK_HUMAN	L	244;221;244;244;139	.	ENSP00000224337:P244L	P	-	2	0	BLNK	97959599	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	4.342000	0.59341	2.818000	0.97014	0.655000	0.94253	CCG	BLNK	-	NULL	ENSG00000095585		0.562	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	HGNC	protein_coding	OTTHUMT00000049593.1	-	0.00	67	0	G	NM_013314		97969609	-1	tier1	-	no_errors	ENST00000224337	ensembl	human	known	74_37	missense	31.82	30	14	SNP	1.000	A
BMP2	650	genome.wustl.edu	37	20	6751098	6751098	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:6751098G>A	ENST00000378827.4	+	2	1544	c.325G>A	c.(325-327)Gtg>Atg	p.V109M		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	109					activation of MAPK activity (GO:0000187)|atrioventricular valve morphogenesis (GO:0003181)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|bone mineralization (GO:0030282)|bone mineralization involved in bone maturation (GO:0035630)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiocyte differentiation (GO:0035051)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation (GO:0002062)|corticotropin hormone secreting cell differentiation (GO:0060128)|embryo development (GO:0009790)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|inner ear development (GO:0048839)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchyme development (GO:0060485)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of calcium-independent cell-cell adhesion (GO:0051042)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|pericardium development (GO:0060039)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of odontogenesis (GO:0042482)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of Wnt signaling pathway by BMP signaling pathway (GO:0060804)|protein destabilization (GO:0031648)|protein phosphorylation (GO:0006468)|proteoglycan metabolic process (GO:0006029)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	BMP receptor binding (GO:0070700)|phosphatase activator activity (GO:0019211)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)|retinol dehydrogenase activity (GO:0004745)|SMAD binding (GO:0046332)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13						AGCCAACACTGTGCGCAGCTT	0.677																																																	0													18.0	20.0	19.0					20																	6751098		2165	4243	6408	SO:0001583	missense	0				CCDS13099.1	20p12	2014-01-30			ENSG00000125845	ENSG00000125845		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1069	protein-coding gene	gene with protein product		112261		BMP2A		2376592	Standard	NM_001200		Approved		uc002wmu.1	P12643	OTTHUMG00000031833	ENST00000378827.4:c.325G>A	20.37:g.6751098G>A	ENSP00000368104:p.Val109Met			Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.V109M	ENST00000378827.4	37	c.325	CCDS13099.1	20	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394973	0.62066	.	.	ENSG00000125845	ENST00000378827	T	0.76578	-1.03	5.57	5.57	0.84162	Transforming growth factor-beta, N-terminal (1);	0.106696	0.64402	D	0.000005	D	0.88815	0.6539	M	0.90483	3.12	0.53688	D	0.99997	D	0.53462	0.96	P	0.55455	0.776	D	0.90824	0.4711	10	0.87932	D	0	.	19.5645	0.95388	0.0:0.0:1.0:0.0	.	109	P12643	BMP2_HUMAN	M	109	ENSP00000368104:V109M	ENSP00000368104:V109M	V	+	1	0	BMP2	6699098	1.000000	0.71417	0.996000	0.52242	0.116000	0.19942	6.203000	0.72137	2.599000	0.87857	0.650000	0.86243	GTG	BMP2	-	pfam_TGF-b_N	ENSG00000125845		0.677	BMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP2	HGNC	protein_coding	OTTHUMT00000077918.3	-	0.00	50	0	G			6751098	+1	tier1	-	no_errors	ENST00000378827	ensembl	human	known	74_37	missense	36.36	35	20	SNP	1.000	A
BMPR2	659	genome.wustl.edu	37	2	203420804	203420804	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:203420804A>G	ENST00000374580.4	+	12	2955	c.2416A>G	c.(2416-2418)Atg>Gtg	p.M806V	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	806					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GACAGTCACCATGAATGGTGT	0.448																																																	0													84.0	78.0	80.0					2																	203420804		2203	4300	6503	SO:0001583	missense	0			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.2416A>G	2.37:g.203420804A>G	ENSP00000363708:p.Met806Val		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.M806V	ENST00000374580.4	37	c.2416	CCDS33361.1	2	.	.	.	.	.	.	.	.	.	.	A	5.928	0.355296	0.11239	.	.	ENSG00000204217	ENST00000374580	D	0.88046	-2.33	5.73	4.59	0.56863	.	0.143971	0.64402	D	0.000001	T	0.73659	0.3615	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.69727	-0.5067	10	0.39692	T	0.17	.	11.1633	0.48528	0.9287:0.0:0.0713:0.0	.	806	Q13873	BMPR2_HUMAN	V	806	ENSP00000363708:M806V	ENSP00000363708:M806V	M	+	1	0	BMPR2	203129049	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	5.034000	0.64152	2.197000	0.70478	0.533000	0.62120	ATG	BMPR2	-	NULL	ENSG00000204217		0.448	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	-	0.00	61	0	A	NM_001204		203420804	+1	tier1	-	no_errors	ENST00000374580	ensembl	human	known	74_37	missense	42.86	28	21	SNP	1.000	G
BMS1P20	96610	genome.wustl.edu	37	22	22661547	22661547	+	RNA	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:22661547G>T	ENST00000426066.1	+	0	437					NR_027293.1				BMS1 pseudogene 20																		GTAGGGTGGAGGAGGTTTCAG	0.473																																																	0																																												0					22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661547G>T				RNA	SNP	-	NULL	ENST00000426066.1	37	NULL		22																																																																																			BMS1P20	-	-	ENSG00000236850		0.473	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	BMS1P20	HGNC	processed_transcript	OTTHUMT00000473090.1	-	0.00	362	0	G			22661547	+1	tier1	-	no_errors	ENST00000426066	ensembl	human	known	74_37	rna	31.06	202	91	SNP	1.000	T
BMS1P5	399761	genome.wustl.edu	37	10	48930118	48930118	+	RNA	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:48930118T>C	ENST00000449800.1	-	0	1328				RNA5SP314_ENST00000410474.1_RNA	NR_003611.2				BMS1 pseudogene 5																		agagtgagactccctctcaaa	0.493																																																	0																																												0					10q11.22	2013-05-22	2007-03-20	2007-03-20	ENSG00000204164				23653	pseudogene	pseudogene			"""BMS1L pseudogene 5"""	BMS1LP5			Standard	NR_003611		Approved	bA508M1.1, OTTHUMG00000018157			OTTHUMG00000018157		10.37:g.48930118T>C				RNA	SNP	-	NULL	ENST00000449800.1	37	NULL		10																																																																																			BMS1P5	-	-	ENSG00000204164		0.493	BMS1P5-002	KNOWN	basic	processed_transcript	BMS1P5	HGNC	pseudogene	OTTHUMT00000047906.1	-	0.00	50	0	T			48930118	-1	tier1	-	no_errors	ENST00000449800	ensembl	human	known	74_37	rna	19.48	62	15	SNP	0.006	C
BNC1	646	genome.wustl.edu	37	15	83932172	83932172	+	Missense_Mutation	SNP	G	G	T	rs368320013		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:83932172G>T	ENST00000345382.2	-	4	1916	c.1831C>A	c.(1831-1833)Cgt>Agt	p.R611S	BNC1_ENST00000569704.1_Missense_Mutation_p.R604S|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	611					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R611C(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACTGATTCACGATGGCAGGGC	0.547																																																	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						G	SER/ARG	0,4406		0,0,2203	127.0	120.0	122.0		1831	1.9	0.1	15		122	1,8599	1.2+/-3.3	0,1,4299	no	missense	BNC1	NM_001717.3	110	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	611/995	83932172	1,13005	2203	4300	6503	SO:0001583	missense	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1831C>A	15.37:g.83932172G>T	ENSP00000307041:p.Arg611Ser		Q15840	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R611S	ENST00000345382.2	37	c.1831	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	G	0.507	-0.868136	0.02590	0.0	1.16E-4	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.40476	1.03	4.93	1.86	0.25419	.	0.963263	0.08612	N	0.919909	T	0.18130	0.0435	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.30031	-0.9992	10	0.07175	T	0.84	-2.3272	4.506	0.11889	0.2206:0.3535:0.426:0.0	.	604;611	F5GY04;Q01954	.;BNC1_HUMAN	S	611;604	ENSP00000307041:R611S	ENSP00000307041:R611S	R	-	1	0	BNC1	81723176	0.000000	0.05858	0.062000	0.19696	0.717000	0.41224	0.050000	0.14120	0.664000	0.31047	0.655000	0.94253	CGT	BNC1	-	NULL	ENSG00000169594		0.547	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1		0.00	71	0	G	NM_001717		83932172	-1			no_errors	ENST00000345382	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.001	T
BRCA2	675	genome.wustl.edu	37	13	32899266	32899266	+	Missense_Mutation	SNP	A	A	G	rs397507314		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:32899266A>G	ENST00000380152.3	+	4	603	c.370A>G	c.(370-372)Atg>Gtg	p.M124V	BRCA2_ENST00000544455.1_Missense_Mutation_p.M124V			P51587	BRCA2_HUMAN	breast cancer 2, early onset	124					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAAAACTAAAATGGATCAAGC	0.308			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0													89.0	87.0	87.0					13																	32899266		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.370A>G	13.37:g.32899266A>G	ENSP00000369497:p.Met124Val		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat	p.M124V	ENST00000380152.3	37	c.370	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	A	8.704	0.910382	0.17833	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00651	5.97;5.97	5.84	-7.45	0.01374	.	1.046920	0.07397	N	0.890137	T	0.00468	0.0015	L	0.34521	1.04	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.08055	0.001;0.003	T	0.45920	-0.9228	10	0.11794	T	0.64	.	4.4614	0.11668	0.3025:0.0:0.3035:0.394	.	124;124	P51587;A1YBP1	BRCA2_HUMAN;.	V	124;124;122	ENSP00000369497:M124V;ENSP00000439902:M124V	ENSP00000369497:M124V	M	+	1	0	BRCA2	31797266	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.262000	0.02852	-0.807000	0.04393	-0.336000	0.08194	ATG	BRCA2	-	pirsf_BRCA2	ENSG00000139618		0.308	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	-	0.00	79	0	A	NM_000059		32899266	+1	tier1	-	no_errors	ENST00000380152	ensembl	human	known	74_37	missense	57.89	48	66	SNP	0.000	G
BRD1	23774	genome.wustl.edu	37	22	50181346	50181346	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:50181346C>T	ENST00000216267.8	-	7	2846				BRD1_ENST00000342989.5_Missense_Mutation_p.R445H|BRD1_ENST00000542442.1_Intron|BRD1_ENST00000404760.1_Missense_Mutation_p.R850H|BRD1_ENST00000457780.2_Missense_Mutation_p.R850H|BRD1_ENST00000404034.1_Intron	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1						histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTCTGGAGGGCGTCCGCTTAC	0.572																																																	0																																										SO:0001627	intron_variant	0			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2360-204G>A	22.37:g.50181346C>T			A6ZJA4	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.R850H	ENST00000216267.8	37	c.2549	CCDS14080.1	22	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311252	0.40895	.	.	ENSG00000100425	ENST00000404760;ENST00000457780;ENST00000342989;ENST00000419212	T;T;T	0.20598	2.62;2.44;2.06	5.81	3.69	0.42338	.	0.274277	0.42548	N	0.000684	T	0.11239	0.0274	.	.	.	0.25596	N	0.986645	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34378	-0.9831	9	0.12430	T	0.62	.	9.6938	0.40145	0.0:0.1432:0.0:0.8568	.	445;850	B7Z926;O95696-2	.;.	H	850;850;445;310	ENSP00000385858:R850H;ENSP00000410042:R850H;ENSP00000345886:R445H	ENSP00000345886:R445H	R	-	2	0	BRD1	48567350	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.311000	0.59147	0.473000	0.27368	-0.302000	0.09304	CGC	BRD1	-	NULL	ENSG00000100425		0.572	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	-	0.00	43	0	C	NM_014577		50181346	-1	tier1	-	no_errors	ENST00000457780	ensembl	human	known	74_37	missense	58.62	12	17	SNP	1.000	T
BRD3	8019	genome.wustl.edu	37	9	136915646	136915646	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:136915646delG	ENST00000303407.7	-	5	749	c.564delC	c.(562-564)cccfs	p.P188fs	BRD3_ENST00000371834.2_Frame_Shift_Del_p.P188fs|BRD3_ENST00000357885.2_Frame_Shift_Del_p.P188fs	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	188					chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGAGACGGTGGGGGGCACGC	0.642			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		9	9q34	8019	bromodomain containing 3		E	0													51.0	62.0	58.0					9																	136915646		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.564delC	9.37:g.136915646delG	ENSP00000305918:p.Pro188fs		B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Frame_Shift_Del	DEL	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.T189fs	ENST00000303407.7	37	c.564	CCDS6980.1	9																																																																																			BRD3	-	NULL	ENSG00000169925		0.642	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD3	HGNC	protein_coding	OTTHUMT00000055390.4		0.00	58	0	G	NM_007371		136915646	-1	tier1		no_errors	ENST00000303407	ensembl	human	known	74_37	frame_shift_del	32.65	33	16	DEL	0.954	-
BRD4	23476	genome.wustl.edu	37	19	15376314	15376314	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:15376314C>T	ENST00000263377.2	-	5	921	c.700G>A	c.(700-702)Gtc>Atc	p.V234I	BRD4_ENST00000602230.1_5'Flank|BRD4_ENST00000360016.5_Missense_Mutation_p.V234I|BRD4_ENST00000371835.4_Missense_Mutation_p.V234I	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	234					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGGGTCTGGACGATGAGGTCC	0.692			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													87.0	97.0	94.0					19																	15376314		2203	4300	6503	SO:0001583	missense	0			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.700G>A	19.37:g.15376314C>T	ENSP00000263377:p.Val234Ile		O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.V234I	ENST00000263377.2	37	c.700	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	C	6.007	0.369762	0.11352	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.27720	1.65;3.31;3.27	5.28	4.23	0.50019	.	0.227360	0.30410	N	0.009693	T	0.16171	0.0389	N	0.12746	0.255	0.23950	N	0.996374	B;B;B	0.12630	0.002;0.006;0.002	B;B;B	0.08055	0.001;0.003;0.001	T	0.10683	-1.0619	10	0.27785	T	0.31	-14.9802	10.2086	0.43128	0.0:0.8402:0.0:0.1598	.	234;234;234	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	I	234	ENSP00000263377:V234I;ENSP00000360901:V234I;ENSP00000353112:V234I	ENSP00000263377:V234I	V	-	1	0	BRD4	15237314	0.996000	0.38824	0.999000	0.59377	0.983000	0.72400	1.243000	0.32767	2.630000	0.89119	0.462000	0.41574	GTC	BRD4	-	NULL	ENSG00000141867		0.692	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	-	0.00	100	0	C	NM_058243		15376314	-1	tier1	-	no_errors	ENST00000263377	ensembl	human	known	74_37	missense	41.89	43	31	SNP	1.000	T
BRSK2	9024	genome.wustl.edu	37	11	1475821	1475821	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:1475821G>A	ENST00000528841.1	+	16	2035	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M	BRSK2_ENST00000308219.9_Missense_Mutation_p.V551M|BRSK2_ENST00000308230.5_Missense_Mutation_p.V573M|BRSK2_ENST00000528710.1_Missense_Mutation_p.V491M|BRSK2_ENST00000544817.1_Missense_Mutation_p.V246M|BRSK2_ENST00000382179.1_Missense_Mutation_p.V597M|BRSK2_ENST00000531197.1_Missense_Mutation_p.V551M|BRSK2_ENST00000526678.1_Missense_Mutation_p.V573M			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	551					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGCTGACATCGTGCACGCCTT	0.607																																																	0													52.0	60.0	58.0					11																	1475821		2092	4223	6315	SO:0001583	missense	0			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1651G>A	11.37:g.1475821G>A	ENSP00000432000:p.Val551Met		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V597M	ENST00000528841.1	37	c.1789	CCDS58107.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.72|18.72	3.684089|3.684089	0.68157|0.68157	.|.	.|.	ENSG00000174672|ENSG00000174672	ENST00000533606|ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528710;ENST00000382179;ENST00000544817	.|T;T;T;T;T;T;T;T	.|0.79845	.|-1.26;-1.29;-1.28;-1.31;-1.28;-1.1;-1.19;0.3	3.57|3.57	3.57|3.57	0.40892|0.40892	.|.	.|0.074413	.|0.53938	.|U	.|0.000056	D|D	0.88123|0.88123	0.6352|0.6352	M|M	0.78637|0.78637	2.42|2.42	0.47905|0.47905	D|D	0.99954|0.99954	.|D;D;D;D;D	.|0.69078	.|0.995;0.995;0.991;0.995;0.997	.|P;P;P;P;P	.|0.62740	.|0.855;0.833;0.855;0.848;0.906	D|D	0.90416|0.90416	0.4413|0.4413	5|10	.|0.87932	.|D	.|0	.|.	15.3534|15.3534	0.74409|0.74409	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|573;597;551;551;551	.|Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.|.;.;.;BRSK2_HUMAN;.	H|M	89|551;551;573;551;573;491;597;246	.|ENSP00000310697:V551M;ENSP00000431152:V551M;ENSP00000310805:V573M;ENSP00000432000:V551M;ENSP00000433370:V573M;ENSP00000433235:V491M;ENSP00000371614:V597M;ENSP00000445168:V246M	.|ENSP00000310697:V551M	R|V	+|+	2|1	0|0	BRSK2|BRSK2	1432397|1432397	1.000000|1.000000	0.71417|0.71417	0.929000|0.929000	0.37066|0.37066	0.755000|0.755000	0.42902|0.42902	7.368000|7.368000	0.79567|0.79567	1.849000|1.849000	0.53698|0.53698	0.313000|0.313000	0.20887|0.20887	CGT|GTG	BRSK2	-	NULL	ENSG00000174672		0.607	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	-	0.00	53	0	G	NM_003957		1475821	+1	tier1	-	no_errors	ENST00000382179	ensembl	human	known	74_37	missense	32.43	25	12	SNP	0.978	A
BRWD1	54014	genome.wustl.edu	37	21	40558989	40558989	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:40558989delA	ENST00000333229.2	-	42	7253	c.6926delT	c.(6925-6927)ttafs	p.L2309fs	AF129408.17_ENST00000608767.1_RNA	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2309					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GAACCCCCTTAAAAAAAGCAT	0.323																																					Melanoma(170;988 1986 4794 16843 39731)												0													71.0	73.0	72.0					21																	40558989		2202	4297	6499	SO:0001589	frameshift_variant	0			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6926delT	21.37:g.40558989delA	ENSP00000330753:p.Leu2309fs		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Frame_Shift_Del	DEL	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.L2309fs	ENST00000333229.2	37	c.6926	CCDS13662.1	21																																																																																			BRWD1	-	NULL	ENSG00000185658		0.323	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3		0.00	46	0	A	NM_033656		40558989	-1	tier1		no_errors	ENST00000333229	ensembl	human	known	74_37	frame_shift_del	38.46	24	15	DEL	0.001	-
BSN	8927	genome.wustl.edu	37	3	49691163	49691163	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:49691163G>T	ENST00000296452.4	+	5	4288	c.4174G>T	c.(4174-4176)Ggg>Tgg	p.G1392W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1392					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TTGTCCAGCTGGGCTGCCACG	0.627																																																	0													58.0	62.0	61.0					3																	49691163		2203	4300	6503	SO:0001583	missense	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4174G>T	3.37:g.49691163G>T	ENSP00000296452:p.Gly1392Trp		O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.G1392W	ENST00000296452.4	37	c.4174	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	10.78	1.445761	0.25987	.	.	ENSG00000164061	ENST00000296452	T	0.18657	2.2	4.87	-4.81	0.03180	.	0.694548	0.13685	N	0.369958	T	0.14399	0.0348	L	0.29908	0.895	0.09310	N	1	P	0.46327	0.876	B	0.40101	0.319	T	0.15607	-1.0431	10	0.66056	D	0.02	.	15.1669	0.72837	0.8835:0.0:0.1165:0.0	.	1392	Q9UPA5	BSN_HUMAN	W	1392	ENSP00000296452:G1392W	ENSP00000296452:G1392W	G	+	1	0	BSN	49666167	0.007000	0.16637	0.003000	0.11579	0.777000	0.43975	0.711000	0.25764	-0.774000	0.04590	-0.672000	0.03802	GGG	BSN	-	NULL	ENSG00000164061		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	-	0.00	66	0	G	NM_003458		49691163	+1	tier1	-	no_errors	ENST00000296452	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.006	T
BTBD17	388419	genome.wustl.edu	37	17	72353398	72353398	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:72353398C>T	ENST00000375366.3	-	3	961	c.835G>A	c.(835-837)Ggc>Agc	p.G279S		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	279					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						ACCGCGGGGCCGTGGCGCGCC	0.716																																																	0													5.0	6.0	6.0					17																	72353398		2007	3896	5903	SO:0001583	missense	0				CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"""BTB/POZ domain containing"""	33758	protein-coding gene	gene with protein product	"""transport and golgi organization 10 homolog A (Drosophila)"""						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.835G>A	17.37:g.72353398C>T	ENSP00000364515:p.Gly279Ser			Missense_Mutation	SNP	pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.G279S	ENST00000375366.3	37	c.835	CCDS32719.1	17	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527567	0.44969	.	.	ENSG00000204347	ENST00000375366	T	0.75704	-0.96	5.03	4.0	0.46444	.	0.306297	0.33309	N	0.005041	T	0.44787	0.1310	N	0.14661	0.345	0.27267	N	0.958478	P	0.39094	0.659	B	0.24848	0.056	T	0.43294	-0.9400	10	0.07813	T	0.8	-28.9989	8.1369	0.31061	0.2223:0.4267:0.351:0.0	.	279	A6NE02	BTBDH_HUMAN	S	279	ENSP00000364515:G279S	ENSP00000364515:G279S	G	-	1	0	BTBD17	69864993	0.082000	0.21442	1.000000	0.80357	0.943000	0.58893	-0.058000	0.11750	2.359000	0.80004	0.456000	0.33151	GGC	BTBD17	-	NULL	ENSG00000204347		0.716	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD17	HGNC	protein_coding	OTTHUMT00000442542.1		0.00	12	0	C	NM_001080466		72353398	-1			no_errors	ENST00000375366	ensembl	human	known	74_37	missense	42.86	4	3	SNP	0.991	T
BTBD18	643376	genome.wustl.edu	37	11	57512577	57512577	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:57512577C>T	ENST00000436147.3	-	2	1355	c.1168G>A	c.(1168-1170)Gga>Aga	p.G390R	TMX2-CTNND1_ENST00000528395.1_Intron|BTBD18_ENST00000422652.1_Missense_Mutation_p.G390R|RP11-691N7.6_ENST00000531074.1_Intron			B2RXH4	BTBDI_HUMAN	BTB (POZ) domain containing 18	390										endometrium(3)|kidney(1)	4						AAGTCTCCTCCGGGATCTGGG	0.488																																																	0													29.0	28.0	28.0					11																	57512577		692	1591	2283	SO:0001583	missense	0				CCDS44603.1	11q12.1	2013-01-08			ENSG00000233436	ENSG00000233436		"""BTB/POZ domain containing"""	37214	protein-coding gene	gene with protein product							Standard	NM_001145101		Approved		uc010rjy.2	B2RXH4	OTTHUMG00000167203	ENST00000436147.3:c.1168G>A	11.37:g.57512577C>T	ENSP00000397020:p.Gly390Arg			Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.G390R	ENST00000436147.3	37	c.1168	CCDS44603.1	11	.	.	.	.	.	.	.	.	.	.	C	8.714	0.912723	0.17907	.	.	ENSG00000233436	ENST00000422652;ENST00000436147	T;T	0.79554	-1.28;-1.28	5.22	-3.01	0.05463	.	.	.	.	.	T	0.58538	0.2129	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.45833	-0.9234	9	0.62326	D	0.03	.	1.3906	0.02250	0.1244:0.3673:0.2295:0.2789	.	390	B2RXH4	BTBDI_HUMAN	R	390	ENSP00000394472:G390R;ENSP00000397020:G390R	ENSP00000394472:G390R	G	-	1	0	BTBD18	57269153	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	0.029000	0.13666	-0.381000	0.07882	-0.119000	0.15052	GGA	BTBD18	-	NULL	ENSG00000233436		0.488	BTBD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD18	HGNC	protein_coding	OTTHUMT00000393718.2		0.00	42	0	C	NM_001145101		57512577	-1			no_errors	ENST00000422652	ensembl	human	known	74_37	missense	17.95	32	7	SNP	0.000	T
BTF3L4	91408	genome.wustl.edu	37	1	52530571	52530571	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:52530571delA	ENST00000313334.8	+	3	397	c.129delA	c.(127-129)ctafs	p.L43fs	BTF3L4_ENST00000533836.1_3'UTR|BTF3L4_ENST00000489308.2_Frame_Shift_Del_p.L43fs|BTF3L4_ENST00000484036.1_Frame_Shift_Del_p.L43fs|BTF3L4_ENST00000472944.2_5'UTR	NM_152265.4	NP_689478.1	Q96K17	BT3L4_HUMAN	basic transcription factor 3-like 4	43	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.									endometrium(2)|kidney(1)|large_intestine(2)	5						AGAGTTCTCTAAAAAAACTGG	0.393																																																	0													70.0	71.0	71.0					1																	52530571		2203	4300	6503	SO:0001589	frameshift_variant	0			BC021004	CCDS30713.1, CCDS44146.1, CCDS58001.1	1p32.3	2011-05-26			ENSG00000134717	ENSG00000134717			30547	protein-coding gene	gene with protein product						12477932	Standard	NM_001136497		Approved	MGC23908	uc001ctk.3	Q96K17	OTTHUMG00000008960	ENST00000313334.8:c.129delA	1.37:g.52530571delA	ENSP00000360664:p.Leu43fs		B3KNJ1|D3DQ32|G3V1C6	Frame_Shift_Del	DEL	pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom	p.K45fs	ENST00000313334.8	37	c.129	CCDS30713.1	1																																																																																			BTF3L4	-	pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom	ENSG00000134717		0.393	BTF3L4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTF3L4	HGNC	protein_coding	OTTHUMT00000024848.1		0.00	56	0	A	NM_152265		52530571	+1	tier1		no_errors	ENST00000313334	ensembl	human	known	74_37	frame_shift_del	36.00	48	27	DEL	0.252	-
RNF43	54894	genome.wustl.edu	37	17	56431059	56431059	+	3'UTR	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:56431059A>T	ENST00000584437.1	-	0	5552				SUPT4H1_ENST00000577396.1_5'Flank|BZRAP1-AS1_ENST00000579527.1_RNA|SUPT4H1_ENST00000580947.1_5'Flank|BZRAP1-AS1_ENST00000580022.1_RNA|RNF43_ENST00000577716.1_3'UTR|BZRAP1-AS1_ENST00000579859.1_RNA|BZRAP1-AS1_ENST00000583826.1_RNA|RNF43_ENST00000583753.1_3'UTR|BZRAP1-AS1_ENST00000583841.1_RNA|BZRAP1-AS1_ENST00000580633.1_RNA|BZRAP1-AS1_ENST00000578025.1_RNA|SUPT4H1_ENST00000581540.1_5'Flank|RNF43_ENST00000500597.2_3'UTR|BZRAP1-AS1_ENST00000585236.1_RNA|BZRAP1-AS1_ENST00000582348.1_RNA|RNF43_ENST00000407977.2_3'UTR|SUPT4H1_ENST00000225504.3_5'Flank|BZRAP1-AS1_ENST00000580515.1_RNA|BZRAP1-AS1_ENST00000578334.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43						negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TATATTAGCAAATAAATATAT	0.398																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.*1245T>A	17.37:g.56431059A>T			A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	RNA	SNP	-	NULL	ENST00000584437.1	37	NULL	CCDS11607.1	17																																																																																			BZRAP1-AS1	-	-	ENSG00000265148		0.398	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BZRAP1-AS1	HGNC	protein_coding	OTTHUMT00000444713.1	-	0.00	29	0	A	NM_017763		56431059	+1	tier1	-	no_errors	ENST00000578025	ensembl	human	known	74_37	rna	15.00	17	3	SNP	1.000	T
C10orf67	256815	genome.wustl.edu	37	10	23611349	23611349	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:23611349G>A	ENST00000323327.4	-	3	515	c.448C>T	c.(448-450)Cta>Tta	p.L150L		NM_153714.2	NP_714925.2	Q8IYJ2	CJ067_HUMAN	chromosome 10 open reading frame 67	150										central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						TCAATTTCTAGGATCCTGTCA	0.373																																																	0													107.0	108.0	108.0					10																	23611349		1859	4095	5954	SO:0001819	synonymous_variant	0			BC035732	CCDS44365.1	10p12.31	2012-05-31			ENSG00000179133	ENSG00000179133			28716	protein-coding gene	gene with protein product						12477932	Standard	NM_153714		Approved	MGC46732	uc010qcx.2	Q8IYJ2	OTTHUMG00000017818	ENST00000323327.4:c.448C>T	10.37:g.23611349G>A			A8MUP9|Q5SWD4	Silent	SNP	NULL	p.L150	ENST00000323327.4	37	c.448	CCDS44365.1	10																																																																																			C10orf67	-	NULL	ENSG00000179133		0.373	C10orf67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf67	HGNC	protein_coding	OTTHUMT00000047213.1	-	0.00	46	0	G	NM_153714		23611349	-1	tier1	-	no_errors	ENST00000323327	ensembl	human	known	74_37	silent	25.00	33	11	SNP	0.000	A
CCDC7	79741	genome.wustl.edu	37	10	33137552	33137552	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:33137552G>A	ENST00000375030.2	+	20	2025	c.1407G>A	c.(1405-1407)atG>atA	p.M469I	C10orf68_ENST00000375025.4_Missense_Mutation_p.M574I|C10orf68_ENST00000375028.3_Missense_Mutation_p.M514I			Q9H943	CJ068_HUMAN		510										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ACAAAGATATGTCCGTACAAC	0.313																																																	0													65.0	65.0	65.0					10																	33137552		2202	4289	6491	SO:0001583	missense	0																														ENST00000375030.2:c.1407G>A	10.37:g.33137552G>A	ENSP00000364170:p.Met469Ile		B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	NULL	p.M574I	ENST00000375030.2	37	c.1722		10	.	.	.	.	.	.	.	.	.	.	.	8.085	0.773337	0.16051	.	.	ENSG00000150076	ENST00000302316;ENST00000375030;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T;T	0.25912	1.79;1.78;1.77;1.77	3.18	-6.35	0.01975	.	.	.	.	.	T	0.16471	0.0396	L	0.47716	1.5	0.09310	N	1	B;B;B	0.18741	0.03;0.03;0.03	B;B;B	0.15052	0.012;0.012;0.012	T	0.19031	-1.0318	9	0.31617	T	0.26	.	4.7811	0.13202	0.5364:0.0:0.1936:0.27	.	510;514;469	Q9H943;A2A3B4;A2A3D6	CJ068_HUMAN;.;.	I	510;469;514;574;486	ENSP00000303710:M510I;ENSP00000364170:M469I;ENSP00000364168:M514I;ENSP00000364165:M574I	ENSP00000303710:M510I	M	+	3	0	C10orf68	33177558	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-1.168000	0.03123	-2.017000	0.00944	0.491000	0.48974	ATG	C10orf68	-	NULL	ENSG00000150076		0.313	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000313999.2	-	0.00	28	0	G			33137552	+1	tier1	-	no_errors	ENST00000375025	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.000	A
C10orf35	219738	genome.wustl.edu	37	10	71391530	71391530	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:71391530G>A	ENST00000373279.4	+	3	190	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	11						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						TGGGGAAATCGTGCAGGATGA	0.592																																																	0													159.0	116.0	131.0					10																	71391530		2203	4300	6503	SO:0001583	missense	0			BC013587	CCDS7295.1	10q22.2	2003-11-21			ENSG00000171224	ENSG00000171224			23519	protein-coding gene	gene with protein product						12477932	Standard	NM_145306		Approved		uc001jpq.4	Q96D05	OTTHUMG00000018383	ENST00000373279.4:c.31G>A	10.37:g.71391530G>A	ENSP00000362376:p.Val11Met			Missense_Mutation	SNP	NULL	p.V11M	ENST00000373279.4	37	c.31	CCDS7295.1	10	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595084	0.86953	.	.	ENSG00000171224	ENST00000373279;ENST00000421716	.	.	.	5.42	5.42	0.78866	.	0.000000	0.56097	D	0.000038	T	0.77116	0.4083	M	0.61703	1.905	0.39476	D	0.967808	D	0.89917	1.0	D	0.81914	0.995	T	0.79902	-0.1607	9	0.72032	D	0.01	-18.6602	16.703	0.85364	0.0:0.0:1.0:0.0	.	11	Q96D05	CJ035_HUMAN	M	11;53	.	ENSP00000362376:V11M	V	+	1	0	C10orf35	71061536	1.000000	0.71417	0.971000	0.41717	0.991000	0.79684	6.057000	0.71119	2.551000	0.86045	0.491000	0.48974	GTG	C10orf35	-	NULL	ENSG00000171224		0.592	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf35	HGNC	protein_coding	OTTHUMT00000048454.1	-	0.00	78	0	G	NM_145306		71391530	+1	tier1	-	no_errors	ENST00000373279	ensembl	human	known	74_37	missense	35.00	39	21	SNP	0.993	A
C10orf76	79591	genome.wustl.edu	37	10	103771512	103771512	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:103771512G>T	ENST00000370033.4	-	11	918	c.799C>A	c.(799-801)Caa>Aaa	p.Q267K		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	267						integral component of membrane (GO:0016021)		p.Q267K(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAACCACTTTGGTGTTCTTCT	0.343																																																	1	Substitution - Missense(1)	endometrium(1)											125.0	124.0	124.0					10																	103771512		1823	4079	5902	SO:0001583	missense	0			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.799C>A	10.37:g.103771512G>T	ENSP00000359050:p.Gln267Lys		Q2TB87|Q9H8Z9	Missense_Mutation	SNP	pfam_DUF1741,superfamily_ARM-type_fold	p.Q267K	ENST00000370033.4	37	c.799	CCDS41563.1	10	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258640	0.59321	.	.	ENSG00000120029	ENST00000370033	T	0.65364	-0.15	6.17	6.17	0.99709	.	0.051755	0.85682	D	0.000000	T	0.56202	0.1969	L	0.46157	1.445	0.80722	D	1	B	0.26258	0.145	B	0.24974	0.057	T	0.54456	-0.8291	10	0.06494	T	0.89	-12.8406	20.8794	0.99867	0.0:0.0:1.0:0.0	.	267	Q5T2E6	CJ076_HUMAN	K	267	ENSP00000359050:Q267K	ENSP00000359050:Q267K	Q	-	1	0	C10orf76	103761502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.097000	0.89539	2.941000	0.99782	0.655000	0.94253	CAA	C10orf76	-	superfamily_ARM-type_fold	ENSG00000120029		0.343	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf76	HGNC	protein_coding	OTTHUMT00000050007.1	-	0.00	42	0	G	NM_024541		103771512	-1	tier1	-	no_errors	ENST00000370033	ensembl	human	known	74_37	missense	17.02	39	8	SNP	1.000	T
C10orf88	80007	genome.wustl.edu	37	10	124711510	124711510	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:124711510delT	ENST00000481909.1	-	3	625	c.401delA	c.(400-402)aatfs	p.N134fs	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	134								p.N134fs*2(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		CAATTTTAGATTTTTTTTATA	0.244																																																	1	Deletion - Frameshift(1)	large_intestine(1)											54.0	53.0	53.0					10																	124711510		2199	4295	6494	SO:0001589	frameshift_variant	0			AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.401delA	10.37:g.124711510delT	ENSP00000419126:p.Asn134fs		Q0P6C6|Q8N597	Frame_Shift_Del	DEL	NULL	p.N134fs	ENST00000481909.1	37	c.401	CCDS7632.1	10																																																																																			C10orf88	-	NULL	ENSG00000119965		0.244	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf88	HGNC	protein_coding	OTTHUMT00000050807.1		0.00	32	0	T	NM_024942		124711510	-1	tier1		no_errors	ENST00000481909	ensembl	human	known	74_37	frame_shift_del	33.33	30	15	DEL	0.704	-
EDRF1	26098	genome.wustl.edu	37	10	127409791	127409791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:127409791G>T	ENST00000356792.4	+	2	359	c.127G>T	c.(127-129)Gga>Tga	p.G43*	RP11-383C5.4_ENST00000423178.2_lincRNA|C10orf137_ENST00000337623.3_Nonsense_Mutation_p.G43*|RP11-383C5.5_ENST00000430970.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		43					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTTATTTCTTGGAGGCAATGA	0.393																																																	0													83.0	92.0	89.0					10																	127409791		2203	4300	6503	SO:0001587	stop_gained	0																														ENST00000356792.4:c.127G>T	10.37:g.127409791G>T	ENSP00000349244:p.Gly43*		B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Nonsense_Mutation	SNP	NULL	p.G43*	ENST00000356792.4	37	c.127	CCDS55733.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.757046	0.98471	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	5.18	5.18	0.71444	.	0.053583	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	18.7189	0.91686	0.0:0.0:1.0:0.0	.	.	.	.	X	43	.	ENSP00000336727:G43X	G	+	1	0	C10orf137	127399781	1.000000	0.71417	0.952000	0.39060	0.986000	0.74619	9.072000	0.93986	2.404000	0.81709	0.655000	0.94253	GGA	C10orf137	-	NULL	ENSG00000107938		0.393	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	C10orf137	HGNC	protein_coding	OTTHUMT00000388539.1	-	0.00	60	0	G			127409791	+1	tier1	-	no_errors	ENST00000356792	ensembl	human	known	74_37	nonsense	6.67	56	4	SNP	1.000	T
CCDC184	387856	genome.wustl.edu	37	12	48578355	48578355	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:48578355C>T	ENST00000316554.3	+	1	990	c.450C>T	c.(448-450)ccC>ccT	p.P150P		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		150						cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						TGCCCAGCCCCGCCACACCCT	0.657																																																	0													5.0	6.0	6.0					12																	48578355		2069	4070	6139	SO:0001819	synonymous_variant	0																														ENST00000316554.3:c.450C>T	12.37:g.48578355C>T			Q96MK5|Q96N39	Silent	SNP	NULL	p.P150	ENST00000316554.3	37	c.450	CCDS31785.1	12																																																																																			C12orf68	-	NULL	ENSG00000177875		0.657	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf68	HGNC	protein_coding	OTTHUMT00000406514.1		0.00	29	0	C			48578355	+1			no_errors	ENST00000316554	ensembl	human	known	74_37	silent	7.14	39	3	SNP	0.941	T
CCDC184	387856	genome.wustl.edu	37	12	48578460	48578460	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:48578460G>T	ENST00000316554.3	+	1	1095	c.555G>T	c.(553-555)ctG>ctT	p.L185L		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		185						cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						ACATTACCCTGCTGCAACTGG	0.662																																																	0													12.0	11.0	11.0					12																	48578460		2189	4273	6462	SO:0001819	synonymous_variant	0																														ENST00000316554.3:c.555G>T	12.37:g.48578460G>T			Q96MK5|Q96N39	Silent	SNP	NULL	p.L185	ENST00000316554.3	37	c.555	CCDS31785.1	12																																																																																			C12orf68	-	NULL	ENSG00000177875		0.662	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf68	HGNC	protein_coding	OTTHUMT00000406514.1	-	0.00	47	0	G			48578460	+1	tier1	-	no_errors	ENST00000316554	ensembl	human	known	74_37	silent	8.33	44	4	SNP	1.000	T
C12orf54	121273	genome.wustl.edu	37	12	48882265	48882265	+	Intron	DEL	A	A	-	rs71439447		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:48882265delA	ENST00000548364.1	+	4	192				RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548913.1_3'UTR|C12orf54_ENST00000314014.2_Intron			Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54											endometrium(1)|large_intestine(4)	5						ACTTACAGCCAAAAAAAAAAA	0.348																																																	0																																										SO:0001627	intron_variant	0			BC031670	CCDS8764.1	12q13.11	2011-01-31			ENSG00000177627	ENSG00000177627			28553	protein-coding gene	gene with protein product						12477932	Standard	NM_152319		Approved	MGC35033	uc001rrr.3	Q6X4T0	OTTHUMG00000170019	ENST00000548364.1:c.136-442A>-	12.37:g.48882265delA			Q6X4S9|Q8N5S2	RNA	DEL	-	NULL	ENST00000548364.1	37	NULL	CCDS8764.1	12																																																																																			C12orf54	-	-	ENSG00000177627		0.348	C12orf54-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	C12orf54	HGNC	protein_coding	OTTHUMT00000406875.1		0.00	12	0	A	NM_152319		48882265	+1	tier1		no_errors	ENST00000548913	ensembl	human	known	74_37	rna	53.33	7	8	DEL	0.084	-
C12orf66	144577	genome.wustl.edu	37	12	64587767	64587767	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:64587767G>A	ENST00000398055.3	-	3	1246	c.1193C>T	c.(1192-1194)cCg>cTg	p.P398L	C12orf66_ENST00000311915.8_Missense_Mutation_p.P398L|C12orf66_ENST00000544871.1_Missense_Mutation_p.P345L	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	398										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						GTGAGGTTCCGGGCGGGTTAG	0.443																																																	0													142.0	133.0	136.0					12																	64587767		1890	4119	6009	SO:0001583	missense	0				CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.1193C>T	12.37:g.64587767G>A	ENSP00000381132:p.Pro398Leu		C9JX54|Q8IYA0	Missense_Mutation	SNP	pfam_DUF2003	p.P398L	ENST00000398055.3	37	c.1193	CCDS41803.1	12	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860158	0.32884	.	.	ENSG00000174206	ENST00000311915;ENST00000544871;ENST00000398055	T;T;T	0.46451	0.87;0.87;0.87	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.58850	0.2151	L	0.41236	1.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.49072	-0.8977	9	.	.	.	-4.9629	20.6593	0.99626	0.0:0.0:1.0:0.0	.	345;398	F5H2Q3;Q96MD2	.;CL066_HUMAN	L	398;345;398	ENSP00000311486:P398L;ENSP00000445481:P345L;ENSP00000381132:P398L	.	P	-	2	0	C12orf66	62874034	1.000000	0.71417	0.999000	0.59377	0.391000	0.30476	9.787000	0.99055	2.885000	0.99019	0.655000	0.94253	CCG	C12orf66	-	pfam_DUF2003	ENSG00000174206		0.443	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf66	HGNC	protein_coding	OTTHUMT00000400921.1	-	0.00	64	0	G	NM_152440		64587767	-1	tier1	-	no_errors	ENST00000398055	ensembl	human	known	74_37	missense	45.00	33	27	SNP	1.000	A
C12orf66	144577	genome.wustl.edu	37	12	64615932	64615932	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:64615932G>T	ENST00000398055.3	-	1	139	c.86C>A	c.(85-87)tCt>tAt	p.S29Y	RPS11P6_ENST00000535684.1_RNA|C12orf66_ENST00000311915.8_Missense_Mutation_p.S29Y|C12orf66_ENST00000540673.1_5'UTR|C12orf66_ENST00000544871.1_Intron	NM_152440.4	NP_689653	Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	29										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CTTGTCGTAAGAGAAGATACC	0.652																																																	0													50.0	54.0	53.0					12																	64615932		1964	4154	6118	SO:0001583	missense	0				CCDS41803.1, CCDS73490.1	12q14.2	2008-08-08			ENSG00000174206	ENSG00000174206			26517	protein-coding gene	gene with protein product						12477932	Standard	NM_152440		Approved	FLJ32549	uc001srw.4	Q96MD2	OTTHUMG00000168763	ENST00000398055.3:c.86C>A	12.37:g.64615932G>T	ENSP00000381132:p.Ser29Tyr		C9JX54|Q8IYA0	Missense_Mutation	SNP	pfam_DUF2003	p.S29Y	ENST00000398055.3	37	c.86	CCDS41803.1	12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178491	0.78564	.	.	ENSG00000174206	ENST00000311915;ENST00000398055	T;T	0.33865	1.39;1.39	5.02	5.02	0.67125	.	0.055340	0.85682	D	0.000000	T	0.43166	0.1235	L	0.50333	1.59	0.58432	D	0.999996	P	0.45283	0.855	P	0.47299	0.543	T	0.17992	-1.0351	9	.	.	.	-16.851	18.5391	0.91020	0.0:0.0:1.0:0.0	.	29	Q96MD2	CL066_HUMAN	Y	29	ENSP00000311486:S29Y;ENSP00000381132:S29Y	.	S	-	2	0	C12orf66	62902199	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.360000	0.79487	2.607000	0.88179	0.561000	0.74099	TCT	C12orf66	-	pfam_DUF2003	ENSG00000174206		0.652	C12orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf66	HGNC	protein_coding	OTTHUMT00000400921.1	-	0.00	61	0	G	NM_152440		64615932	-1	tier1	-	no_errors	ENST00000398055	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
CFAP54	144535	genome.wustl.edu	37	12	96912781	96912781	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:96912781T>C	ENST00000524981.4	+	6	897	c.874T>C	c.(874-876)Tgg>Cgg	p.W292R	C12orf55_ENST00000298953.3_Missense_Mutation_p.W292R			Q96N23	CL055_HUMAN		292																	GTACTTGACATGGCGCGCTAC	0.527																																																	0																																										SO:0001583	missense	0																														ENST00000524981.4:c.874T>C	12.37:g.96912781T>C	ENSP00000431759:p.Trp292Arg			Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.W292R	ENST00000524981.4	37	c.874		12	.	.	.	.	.	.	.	.	.	.	T	14.78	2.637164	0.47049	.	.	ENSG00000188596	ENST00000553778;ENST00000524981;ENST00000298953	T;T	0.55760	0.5;0.5	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.71660	0.3366	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75411	-0.3327	10	0.87932	D	0	-11.3466	15.3363	0.74260	0.0:0.0:0.0:1.0	.	244	G3V4Y4	.	R	244;292;292	ENSP00000452066:W244R;ENSP00000298953:W292R	ENSP00000298953:W292R	W	+	1	0	C12orf63	95436912	1.000000	0.71417	0.917000	0.36280	0.010000	0.07245	4.049000	0.57397	2.155000	0.67459	0.459000	0.35465	TGG	C12orf55	-	NULL	ENSG00000188596		0.527	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	-	0.00	102	0	T			96912781	+1	tier1	-	no_errors	ENST00000524981	ensembl	human	putative	74_37	missense	37.50	79	48	SNP	0.988	C
CFAP54	144535	genome.wustl.edu	37	12	97024359	97024359	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:97024359delA	ENST00000524981.4	+	32	4269	c.4246delA	c.(4246-4248)aaafs	p.K1418fs	C12orf55_ENST00000554108.2_3'UTR			Q96N23	CL055_HUMAN		0																	AATAAGAAGTAAAAAAAAGGA	0.264																																																	0																																										SO:0001589	frameshift_variant	0																														ENST00000524981.4:c.4246delA	12.37:g.97024359delA	ENSP00000431759:p.Lys1418fs			Frame_Shift_Del	DEL	superfamily_Fibronectin_type3	p.K1418fs	ENST00000524981.4	37	c.4246		12																																																																																			C12orf55	-	NULL	ENSG00000188596		0.264	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4		0.00	49	0	A			97024359	+1	tier1		no_errors	ENST00000524981	ensembl	human	putative	74_37	frame_shift_del	29.69	45	19	DEL	0.001	-
C12orf43	64897	genome.wustl.edu	37	12	121442025	121442025	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:121442025C>A	ENST00000288757.3	-	6	742	c.720G>T	c.(718-720)aaG>aaT	p.K240N	C12orf43_ENST00000366211.2_Missense_Mutation_p.K199N|C12orf43_ENST00000445832.3_Missense_Mutation_p.K210N|C12orf43_ENST00000537817.1_Missense_Mutation_p.K241N|C12orf43_ENST00000539736.1_Missense_Mutation_p.K230N|C12orf43_ENST00000536407.2_3'UTR|RP11-216P16.2_ENST00000606238.1_RNA	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	240	Lys-rich.							p.K240K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTTCTTTGCCTTTTTCTTCT	0.572																																																	1	Substitution - coding silent(1)	large_intestine(1)											258.0	252.0	254.0					12																	121442025		2203	4300	6503	SO:0001583	missense	0			AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.720G>T	12.37:g.121442025C>A	ENSP00000288757:p.Lys240Asn		Q53HF0|Q9H9Z7	Missense_Mutation	SNP	NULL	p.K240N	ENST00000288757.3	37	c.720	CCDS9210.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.37|11.37	1.620113|1.620113	0.28801|0.28801	.|.	.|.	ENSG00000157895|ENSG00000157895	ENST00000445832;ENST00000288757;ENST00000537817;ENST00000536407;ENST00000366211;ENST00000539736;ENST00000538296|ENST00000546272	T;T;T;T;T|.	0.57595|.	0.43;0.41;0.43;0.39;0.59|.	5.48|5.48	-1.36|-1.36	0.09085|0.09085	.|.	0.318671|.	0.35870|.	N|.	0.002925|.	T|T	0.27349|0.27349	0.0671|0.0671	L|L	0.46157|0.46157	1.445|1.445	0.18873|0.18873	N|N	0.999989|0.999989	D;P;D;D;D|.	0.56521|.	0.976;0.933;0.976;0.976;0.976|.	P;P;P;P;P|.	0.50049|.	0.629;0.629;0.629;0.629;0.629|.	T|T	0.31943|0.31943	-0.9925|-0.9925	10|5	0.56958|.	D|.	0.05|.	-31.1475|-31.1475	1.0439|1.0439	0.01565|0.01565	0.1525:0.3225:0.1485:0.3765|0.1525:0.3225:0.1485:0.3765	.|.	230;199;241;230;240|.	G5EA44;F6TFQ5;F5H7W8;B4DWJ9;Q96C57|.	.;.;.;.;CL043_HUMAN|.	N|M	210;240;241;138;199;230;178|194	ENSP00000409788:K210N;ENSP00000288757:K240N;ENSP00000442224:K241N;ENSP00000437803:K230N;ENSP00000442041:K178N|.	ENSP00000288757:K240N|.	K|R	-|-	3|2	2|0	C12orf43|C12orf43	119926408|119926408	0.112000|0.112000	0.22096|0.22096	0.530000|0.530000	0.27963|0.27963	0.251000|0.251000	0.25915|0.25915	-0.080000|-0.080000	0.11339|0.11339	0.254000|0.254000	0.21573|0.21573	0.655000|0.655000	0.94253|0.94253	AAG|AGG	C12orf43	-	NULL	ENSG00000157895		0.572	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf43	HGNC	protein_coding		-	0.00	154	0	C	NM_022895		121442025	-1	tier1	-	no_errors	ENST00000288757	ensembl	human	known	74_37	missense	31.30	90	41	SNP	0.053	A
HEATR4	399671	genome.wustl.edu	37	14	73959974	73959974	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:73959974delT	ENST00000553558.1	-	17	3107				HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron|C14orf169_ENST00000531973.1_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AGATATTAGATTTTTTTTGGA	0.398																																																	0																																										SO:0001627	intron_variant	0			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2786-146A>-	14.37:g.73959974delT			B7Z7V9|E9KL41	RNA	DEL	-	NULL	ENST00000553558.1	37	NULL	CCDS9815.2	14																																																																																			C14orf169	-	-	ENSG00000255242		0.398	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf169	HGNC	protein_coding	OTTHUMT00000414422.2		0.00	39	0	T	NM_203309		73959974	+1	tier1		no_errors	ENST00000531973	ensembl	human	known	74_37	rna	26.92	19	7	DEL	0.897	-
C15orf39	56905	genome.wustl.edu	37	15	75499804	75499804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:75499804delC	ENST00000360639.2	+	2	1735	c.1415delC	c.(1414-1416)accfs	p.T472fs	C15orf39_ENST00000394987.4_Frame_Shift_Del_p.T472fs|C15orf39_ENST00000567617.1_Frame_Shift_Del_p.T472fs			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	472						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GTTCCCTGTACCCCCCCAGCA	0.632																																																	0													43.0	49.0	47.0					15																	75499804		2197	4295	6492	SO:0001589	frameshift_variant	0			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1415delC	15.37:g.75499804delC	ENSP00000353854:p.Thr472fs		B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Frame_Shift_Del	DEL	NULL	p.P474fs	ENST00000360639.2	37	c.1415	CCDS10276.1	15																																																																																			C15orf39	-	NULL	ENSG00000167173		0.632	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf39	HGNC	protein_coding	OTTHUMT00000286410.1		0.00	88	0	C	NM_015492		75499804	+1	tier1		no_errors	ENST00000360639	ensembl	human	known	74_37	frame_shift_del	46.97	35	31	DEL	0.848	-
C16orf82	162083	genome.wustl.edu	37	16	27080038	27080041	+	lincRNA	DEL	TTTT	TTTT	-	rs552505952|rs545877844|rs369091781|rs76474261	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:27080038_27080041delTTTT	ENST00000505035.1	+	0	2011_2014				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN	chromosome 16 open reading frame 82																		CCAAGCGTCCTTTTTTTTTTTTTT	0.48																																																	0																																												0			BC031257		16p12.1	2013-01-24			ENSG00000234186	ENSG00000234186			30755	other	unknown						12477932	Standard	NM_001145545		Approved	TNT	uc010vcm.2	Q7Z2V1	OTTHUMG00000161986		16.37:g.27080046_27080049delTTTT			B9EGC2|Q8NEF0	RNA	DEL	-	NULL	ENST00000505035.1	37	NULL		16																																																																																			C16orf82	-	-	ENSG00000234186		0.480	C16orf82-001	KNOWN	basic	lincRNA	C16orf82	HGNC	lincRNA	OTTHUMT00000366634.1		0.00	13	0	TTTT	NM_001145545		27080041	+1	tier1		no_errors	ENST00000418886	ensembl	human	known	74_37	rna	100.00	0	5	DEL	0.000:0.000:0.004:0.008	-
C16orf93	90835	genome.wustl.edu	37	16	30772913	30772913	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:30772913C>T	ENST00000543610.1	-	1	1118	c.157G>A	c.(157-159)Gcg>Acg	p.A53T	RNF40_ENST00000324685.6_5'Flank|RNF40_ENST00000402121.3_5'Flank|C16orf93_ENST00000541260.1_Missense_Mutation_p.A53T|RNF40_ENST00000357890.5_5'Flank|C16orf93_ENST00000545825.1_Missense_Mutation_p.A53T|RNF40_ENST00000563683.1_5'Flank	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	53										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						GCCGCCGCCGCCGTCGTCCAC	0.652																																																	0																																										SO:0001583	missense	0			BC042548	CCDS32434.1, CCDS32434.2, CCDS55993.1	16p11.2	2012-10-10			ENSG00000196118	ENSG00000196118			28078	protein-coding gene	gene with protein product							Standard	NM_001195620		Approved	MGC104706	uc002dzm.3	A1A4V9	OTTHUMG00000167926	ENST00000543610.1:c.157G>A	16.37:g.30772913C>T	ENSP00000437532:p.Ala53Thr		A1A4V8|F5GX13|Q569G2	Missense_Mutation	SNP	NULL	p.A53T	ENST00000543610.1	37	c.157	CCDS32434.2	16	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931895	0.52866	.	.	ENSG00000196118	ENST00000543610;ENST00000545825	.	.	.	4.37	-1.49	0.08718	.	.	.	.	.	T	0.15132	0.0365	N	0.14661	0.345	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.12156	0.007;0.003	T	0.31861	-0.9928	8	0.08837	T	0.75	0.0021	3.9546	0.09383	0.1705:0.2996:0.4372:0.0926	.	53;53	F5GX13;A1A4V9	.;CP093_HUMAN	T	53	.	ENSP00000437532:A53T	A	-	1	0	C16orf93	30680414	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-1.065000	0.03458	-0.193000	0.10415	-0.274000	0.10170	GCG	C16orf93	-	NULL	ENSG00000196118		0.652	C16orf93-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf93	HGNC	protein_coding	OTTHUMT00000397089.1	-	0.00	109	0	C	NM_001014979		30772913	-1	tier1	-	no_errors	ENST00000543610	ensembl	human	known	74_37	missense	42.05	51	37	SNP	0.000	T
C16orf86	388284	genome.wustl.edu	37	16	67700903	67700903	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:67700903G>A	ENST00000403458.4	+	1	185	c.30G>A	c.(28-30)ccG>ccA	p.P10P	ENKD1_ENST00000602644.1_5'Flank|C16orf86_ENST00000602974.1_3'UTR|ENKD1_ENST00000243878.4_5'Flank|ENKD1_ENST00000602409.1_5'Flank	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	10										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AGAGGCGGCCGGGGGTCCAGG	0.711																																																	0													3.0	5.0	4.0					16																	67700903		1633	3673	5306	SO:0001819	synonymous_variant	0				CCDS32468.2	16q22.1	2008-10-30			ENSG00000159761	ENSG00000159761			33755	protein-coding gene	gene with protein product							Standard	NM_001012984		Approved	FLJ41802	uc002ety.3	Q6ZW13	OTTHUMG00000150527	ENST00000403458.4:c.30G>A	16.37:g.67700903G>A			B5MCW6	Silent	SNP	NULL	p.P10	ENST00000403458.4	37	c.30	CCDS32468.2	16																																																																																			C16orf86	-	NULL	ENSG00000159761		0.711	C16orf86-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf86	HGNC	protein_coding	OTTHUMT00000318767.2	-	0.00	41	0	G	NM_001012984		67700903	+1	tier1	-	no_errors	ENST00000403458	ensembl	human	known	74_37	silent	72.00	7	18	SNP	0.001	A
C17orf107	100130311	genome.wustl.edu	37	17	4803728	4803728	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:4803728G>A	ENST00000381365.3	+	3	700	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	CHRNE_ENST00000575637.1_5'Flank|C17orf107_ENST00000521575.1_3'UTR|CHRNE_ENST00000293780.4_Intron	NM_001145536.1	NP_001139008.1	Q6ZR85	CQ107_HUMAN	chromosome 17 open reading frame 107	158										endometrium(2)	2						CTGTGTGGACGGGGTCTGCAG	0.672																																																	0													23.0	30.0	28.0					17																	4803728		692	1591	2283	SO:0001583	missense	0			AK128415	CCDS45591.1	17p13.2	2009-09-30			ENSG00000205710	ENSG00000205710			37238	protein-coding gene	gene with protein product							Standard	NM_001145536		Approved		uc002fzl.3	Q6ZR85	OTTHUMG00000164838	ENST00000381365.3:c.473G>A	17.37:g.4803728G>A	ENSP00000370770:p.Arg158Gln			Missense_Mutation	SNP	NULL	p.R158Q	ENST00000381365.3	37	c.473	CCDS45591.1	17	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504843	0.44558	.	.	ENSG00000205710	ENST00000381365	.	.	.	4.32	3.34	0.38264	.	0.301827	0.18510	N	0.139083	T	0.18841	0.0452	N	0.24115	0.695	0.09310	N	1	P	0.36874	0.572	B	0.23716	0.048	T	0.09975	-1.0650	9	0.45353	T	0.12	-10.5032	7.9736	0.30143	0.1129:0.0:0.8871:0.0	.	158	Q6ZR85	CQ107_HUMAN	Q	158	.	ENSP00000370770:R158Q	R	+	2	0	C17orf107	4744507	0.771000	0.28555	0.306000	0.25113	0.415000	0.31203	2.906000	0.48735	1.024000	0.39682	0.491000	0.48974	CGG	C17orf107	-	NULL	ENSG00000205710		0.672	C17orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf107	HGNC	protein_coding	OTTHUMT00000380556.1	-	0.00	70	0	G	NM_001145536		4803728	+1	tier1	-	no_errors	ENST00000381365	ensembl	human	known	74_37	missense	39.62	32	21	SNP	0.012	A
PRR29	92340	genome.wustl.edu	37	17	62078849	62078849	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:62078849delC	ENST00000412177.1	+	5	507	c.493delC	c.(493-495)cccfs	p.P166fs	C17orf72_ENST00000577953.1_Frame_Shift_Del_p.T89fs|ICAM2_ENST00000581417.1_5'Flank|C17orf72_ENST00000539996.1_Frame_Shift_Del_p.P116fs|C17orf72_ENST00000425164.3_Intron|C17orf72_ENST00000580752.1_Frame_Shift_Del_p.T28fs|RP11-214C8.2_ENST00000580942.1_lincRNA|C17orf72_ENST00000582540.1_Frame_Shift_Del_p.P115fs|C17orf72_ENST00000579184.1_Frame_Shift_Del_p.P159fs	NM_001164257.1|NM_001191030.1	NP_001157729.1|NP_001177959.1	P0C7W0	PRR29_HUMAN		166	Pro-rich.																CCCACCCCCACCCCCCAGTGC	0.642																																																	0													12.0	14.0	13.0					17																	62078849		690	1589	2279	SO:0001589	frameshift_variant	0																														ENST00000412177.1:c.493delC	17.37:g.62078849delC	ENSP00000400986:p.Pro166fs		B3KMP0|B4DZJ9|B4E2F8|E9PGL5|J3QKX4	Frame_Shift_Del	DEL	NULL	p.S167fs	ENST00000412177.1	37	c.493	CCDS54158.1	17																																																																																			C17orf72	-	NULL	ENSG00000224383		0.642	C17orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf72	HGNC	protein_coding	OTTHUMT00000442613.1		0.00	52	0	C			62078849	+1	tier1		no_errors	ENST00000412177	ensembl	human	known	74_37	frame_shift_del	45.45	24	20	DEL	1.000	-
C17orf77	146723	genome.wustl.edu	37	17	72588242	72588242	+	Silent	SNP	G	G	A	rs143787635	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:72588242G>A	ENST00000392620.1	+	3	419	c.57G>A	c.(55-57)gcG>gcA	p.A19A	C17orf77_ENST00000328023.2_Silent_p.A19A|CD300LD_ENST00000375352.1_Intron	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	19						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						AGAACAGAGCGTCTCTGTCTC	0.493													G|||	12	0.00239617	0.0	0.0014	5008	,	,		18229	0.0		0.0	False		,,,				2504	0.0112																0								G	,	1,4405	2.1+/-5.4	0,1,2202	93.0	92.0	92.0		,57	-0.3	0.0	17	dbSNP_134	92	7,8593	6.4+/-24.3	0,7,4293	no	intron,coding-synonymous	C17orf77,CD300LD	NM_001115152.1,NM_152460.2	,	0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615	,	,19/244	72588242	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.57G>A	17.37:g.72588242G>A				Silent	SNP	NULL	p.A19	ENST00000392620.1	37	c.57	CCDS32721.1	17																																																																																			C17orf77	-	NULL	ENSG00000182352		0.493	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf77	HGNC	protein_coding	OTTHUMT00000145090.2	-	0.00	38	0	G	NM_152460		72588242	+1	tier1	rs143787635	no_errors	ENST00000328023	ensembl	human	known	74_37	silent	36.21	37	21	SNP	0.000	A
C19orf25	148223	genome.wustl.edu	37	19	1474829	1474829	+	3'UTR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:1474829C>T	ENST00000436106.2	-	0	954				C19orf25_ENST00000427685.2_3'UTR|C19orf25_ENST00000588427.1_Intron|C19orf25_ENST00000588849.1_3'UTR|C19orf25_ENST00000588871.1_Silent_p.P156P|C19orf25_ENST00000586564.1_3'UTR|C19orf25_ENST00000591027.1_5'Flank			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACGCAGGACGGAGCCAGCT	0.612																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092	ENST00000436106.2:c.*202G>A	19.37:g.1474829C>T			B3KQN6|Q8N9R7|Q8WV94	Silent	SNP	NULL	p.P156	ENST00000436106.2	37	c.468	CCDS45898.1	19																																																																																			C19orf25	-	NULL	ENSG00000119559		0.612	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C19orf25	HGNC	protein_coding	OTTHUMT00000449694.1	-	0.00	54	0	C	NM_152482		1474829	-1	tier1	-	no_errors	ENST00000588871	ensembl	human	putative	74_37	silent	30.16	44	19	SNP	0.002	T
C19orf38	255809	genome.wustl.edu	37	19	10961063	10961063	+	Frame_Shift_Del	DEL	G	G	-	rs534745530		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:10961063delG	ENST00000397820.4	+	2	267	c.160delG	c.(160-162)gggfs	p.G55fs	C19orf38_ENST00000592854.1_Frame_Shift_Del_p.G55fs	NM_001136482.1	NP_001129954.1	A8MVS5	HIDE1_HUMAN	chromosome 19 open reading frame 38	55						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)	2						ACTGTATCGAGGGGGGCAGGT	0.667																																																	0													23.0	25.0	25.0					19																	10961063		692	1591	2283	SO:0001589	frameshift_variant	0				CCDS45970.1	19p13.2	2011-08-02	2008-04-14		ENSG00000214212	ENSG00000214212			34073	protein-coding gene	gene with protein product	"""Highly expressed in immature dendritic cell transcript 1"""						Standard	NM_001136482		Approved	HIDE1	uc010dxm.1	A8MVS5		ENST00000397820.4:c.160delG	19.37:g.10961063delG	ENSP00000380920:p.Gly55fs		B2RXI3	Frame_Shift_Del	DEL	NULL	p.Q56fs	ENST00000397820.4	37	c.160	CCDS45970.1	19																																																																																			C19orf38	-	NULL	ENSG00000214212		0.667	C19orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf38	HGNC	protein_coding	OTTHUMT00000452622.1		0.00	102	0	G	NM_001136482		10961063	+1	tier1		no_errors	ENST00000397820	ensembl	human	known	74_37	frame_shift_del	42.86	24	18	DEL	0.009	-
C19orf48	84798	genome.wustl.edu	37	19	51301954	51301954	+	5'UTR	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:51301954G>T	ENST00000598463.1	-	0	850				C19orf48_ENST00000391812.1_5'UTR|SNORD88A_ENST00000408314.1_RNA|C19orf48_ENST00000345523.4_5'UTR|C19orf48_ENST00000595794.1_5'UTR|SNORD88B_ENST00000408454.1_RNA|C19orf48_ENST00000596655.1_5'UTR			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48											endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GGTAGCTGAAGATGGCACCTT	0.652																																																	0																																										SO:0001623	5_prime_UTR_variant	0			BC037227	CCDS12803.1	19q13.33	2012-10-26			ENSG00000167747	ENSG00000167747			29667	protein-coding gene	gene with protein product	"""multidrug resistance-related protein"""					12452007	Standard	NM_001290154		Approved	MGC13170	uc002ptg.3	Q6RUI8		ENST00000598463.1:c.-249C>A	19.37:g.51301954G>T				RNA	SNP	-	NULL	ENST00000598463.1	37	NULL	CCDS12803.1	19																																																																																			C19orf48	-	-	ENSG00000167747		0.652	C19orf48-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C19orf48	HGNC	protein_coding	OTTHUMT00000464107.1	-	0.00	102	0	G	NM_032712		51301954	-1	tier1	-	no_errors	ENST00000595794	ensembl	human	known	74_37	rna	6.25	60	4	SNP	0.212	T
C1orf109	54955	genome.wustl.edu	37	1	38155688	38155688	+	Intron	DEL	T	T	-	rs573782861	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:38155688delT	ENST00000358011.4	-	2	187				CDCA8_ENST00000327331.2_5'Flank|CDCA8_ENST00000373055.1_5'Flank|C1orf109_ENST00000464085.1_Intron	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109											lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				AGAAGCAGGGttttttttttg	0.562																																																	0																																										SO:0001627	intron_variant	0			AK000515	CCDS423.1	1p34.3	2012-06-21			ENSG00000116922	ENSG00000116922			26039	protein-coding gene	gene with protein product		614799				22548824	Standard	XM_005270979		Approved	FLJ20508	uc001cbp.3	Q9NX04	OTTHUMG00000004323	ENST00000358011.4:c.3-133A>-	1.37:g.38155688delT			D3DPT1|Q8WVD1	RNA	DEL	-	NULL	ENST00000358011.4	37	NULL	CCDS423.1	1																																																																																			C1orf109	-	-	ENSG00000116922		0.562	C1orf109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf109	HGNC	protein_coding	OTTHUMT00000012486.1		0.00	15	0	T	NM_017850		38155688	-1	tier1		no_errors	ENST00000472584	ensembl	human	known	74_37	rna	36.36	7	4	DEL	0.001	-
C1orf132	100128537	genome.wustl.edu	37	1	207975272	207975272	+	RNA	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:207975272C>A	ENST00000385231.1	-	0	12				C1orf132_ENST00000385055.1_RNA	NR_029832.1				chromosome 1 open reading frame 132																		ATCGGTCAGCCTGTGTAAGAG	0.537																																																	0													29.0	28.0	29.0					1																	207975272		1568	3581	5149			0			AK092969		1q32.2	2013-03-14			ENSG00000203709	ENSG00000203709			32018	other	unknown						14702039	Standard			Approved	FLJ35650			OTTHUMG00000036553		1.37:g.207975272C>A				RNA	SNP	-	NULL	ENST00000385231.1	37	NULL		1																																																																																			C1orf132	-	-	ENSG00000203709		0.537	C1orf132-202	KNOWN	basic	miRNA	C1orf132	HGNC	processed_transcript		-	0.00	32	0	C			207975272	-1	tier1	-	no_errors	ENST00000385231	ensembl	human	known	74_37	rna	39.29	17	11	SNP	1.000	A
C1orf86	199990	genome.wustl.edu	37	1	2116003	2116005	+	3'UTR	DEL	CTC	CTC	-	rs192915352|rs539390535	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:2116003_2116005delCTC	ENST00000400919.3	-	0	2224_2226				PRKCZ_ENST00000400920.1_Intron|PRKCZ_ENST00000479263.1_Intron|PRKCZ_ENST00000400921.2_Intron|RP11-181G12.2_ENST00000536678.1_RNA|RP11-181G12.2_ENST00000333854.2_RNA|RP11-181G12.2_ENST00000444529.1_RNA	NM_001282671.1	NP_001269600.1	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86						cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGACCCTTCTCCTATTGTTTT	0.493																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000400919.3:c.*714GAG>-	1.37:g.2116003_2116005delCTC			A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	RNA	DEL	-	NULL	ENST00000400919.3	37	NULL		1																																																																																			C1orf86	-	-	ENSG00000162585		0.493	C1orf86-202	KNOWN	basic	protein_coding	C1orf86	HGNC	protein_coding			0.00	48	0	CTC	NM_182533		2116005	-1	tier1		no_errors	ENST00000469733	ensembl	human	known	74_37	rna	29.17	17	7	DEL	0.000:0.000:0.000	-
C1orf167	284498	genome.wustl.edu	37	1	11826586	11826586	+	Missense_Mutation	SNP	C	C	T	rs534738879		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:11826586C>T	ENST00000433342.1	+	3	1313	c.1313C>T	c.(1312-1314)gCg>gTg	p.A438V	C1orf167_ENST00000435090.1_Intron			Q5SNV9	CA167_HUMAN	chromosome 1 open reading frame 167	438										central_nervous_system(1)	1						CATTGCCTGGCGCAGGAGGCA	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		14933	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001583	missense	0			AL834308		1p36.22	2012-04-20			ENSG00000215910	ENSG00000215910			25262	protein-coding gene	gene with protein product						12370778	Standard	XM_006710065		Approved	DKFZp434E1410, RP11-56N19.2	uc001asy.1	Q5SNV9	OTTHUMG00000002228	ENST00000433342.1:c.1313C>T	1.37:g.11826586C>T	ENSP00000414909:p.Ala438Val		Q8NDA9|Q8NDF3	Missense_Mutation	SNP	NULL	p.A438V	ENST00000433342.1	37	c.1313		1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633111	0.47049	.	.	ENSG00000215910	ENST00000433342	T	0.05717	3.4	3.26	2.11	0.27256	.	.	.	.	.	T	0.05777	0.0151	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.43147	-0.9409	6	0.28530	T	0.3	.	6.4493	0.21894	0.7279:0.2721:0.0:0.0	.	.	.	.	V	438	ENSP00000414909:A438V	ENSP00000414909:A438V	A	+	2	0	C1orf167	11749173	0.983000	0.35010	0.098000	0.21074	0.052000	0.14988	1.565000	0.36386	0.449000	0.26747	-0.558000	0.04189	GCG	C1orf167	-	NULL	ENSG00000215910		0.687	C1orf167-201	KNOWN	basic|appris_principal	protein_coding	C1orf167	HGNC	protein_coding		-	0.00	25	0	C			11826586	+1	tier1	-	no_errors	ENST00000433342	ensembl	human	known	74_37	missense	52.63	9	10	SNP	0.017	T
RSRP1	57035	genome.wustl.edu	37	1	25571794	25571795	+	Splice_Site	INS	-	-	A	rs543739883|rs113744649	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:25571794_25571795insA	ENST00000243189.7	-	3	797		c.e3-2		C1orf63_ENST00000417642.2_Splice_Site|C1orf63_ENST00000431849.2_Splice_Site|RP3-465N24.6_ENST00000607698.1_lincRNA	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN												breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCATTCGATCTAAAAAAAAAAG	0.337																																																	0																																										SO:0001630	splice_region_variant	0																														ENST00000243189.7:c.521-2->T	1.37:g.25571804_25571804dupA			A8K917|Q49AA4|Q5TH71|Q9GZP6	Splice_Site	INS	-	e2-2	ENST00000243189.7	37	c.500-3_500-2	CCDS260.1	1																																																																																			C1orf63	-	-	ENSG00000117616		0.337	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf63	HGNC	protein_coding	OTTHUMT00000101966.2		0.00	16	0	-		Intron	25571795	-1	tier1		no_errors	ENST00000417642	ensembl	human	known	74_37	splice_site_ins	16.67	25	5	INS	0.972:0.056	A
C1orf185	284546	genome.wustl.edu	37	1	51613179	51613179	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:51613179delA	ENST00000371759.2	+	5	336	c.336delA	c.(334-336)acafs	p.T112fs	C1orf185_ENST00000467127.1_Frame_Shift_Del_p.T51fs	NM_001136508.1	NP_001129980.1	Q5T7R7	CA185_HUMAN	chromosome 1 open reading frame 185	112						integral component of membrane (GO:0016021)		p.0?(2)		endometrium(1)	1						AACTTGCAACAAAAAATATCA	0.333																																																	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											156.0	127.0	136.0					1																	51613179		692	1591	2283	SO:0001589	frameshift_variant	0			AK130995	CCDS44142.1	1p32.3	2012-07-27			ENSG00000204006	ENSG00000204006			28096	protein-coding gene	gene with protein product							Standard	NM_001136508		Approved	FLJ27485	uc001csh.3	Q5T7R7	OTTHUMG00000008084	ENST00000371759.2:c.336delA	1.37:g.51613179delA	ENSP00000360824:p.Thr112fs		A6NHS3	Frame_Shift_Del	DEL	NULL	p.N114fs	ENST00000371759.2	37	c.336	CCDS44142.1	1																																																																																			C1orf185	-	NULL	ENSG00000204006		0.333	C1orf185-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf185	HGNC	protein_coding	OTTHUMT00000022123.1		0.00	50	0	A	NM_001136508		51613179	+1	tier1		no_errors	ENST00000371759	ensembl	human	known	74_37	frame_shift_del	46.97	35	31	DEL	0.029	-
C1orf185	284546	genome.wustl.edu	37	1	51613355	51613355	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:51613355G>T	ENST00000371759.2	+	5	512	c.512G>T	c.(511-513)gGg>gTg	p.G171V	C1orf185_ENST00000467127.1_Missense_Mutation_p.G110V	NM_001136508.1	NP_001129980.1	Q5T7R7	CA185_HUMAN	chromosome 1 open reading frame 185	171						integral component of membrane (GO:0016021)		p.0?(2)		endometrium(1)	1						CCTTCTCTCGGGGAACCTCTA	0.378																																																	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											116.0	93.0	100.0					1																	51613355		692	1591	2283	SO:0001583	missense	0			AK130995	CCDS44142.1	1p32.3	2012-07-27			ENSG00000204006	ENSG00000204006			28096	protein-coding gene	gene with protein product							Standard	NM_001136508		Approved	FLJ27485	uc001csh.3	Q5T7R7	OTTHUMG00000008084	ENST00000371759.2:c.512G>T	1.37:g.51613355G>T	ENSP00000360824:p.Gly171Val		A6NHS3	Missense_Mutation	SNP	NULL	p.G171V	ENST00000371759.2	37	c.512	CCDS44142.1	1	.	.	.	.	.	.	.	.	.	.	G	5.380	0.255405	0.10185	.	.	ENSG00000204006	ENST00000371759	.	.	.	5.07	-1.7	0.08159	.	1.088580	0.07000	N	0.823149	T	0.25494	0.0620	L	0.27053	0.805	0.19775	N	0.99995	B	0.33171	0.4	B	0.37508	0.252	T	0.37150	-0.9718	9	0.59425	D	0.04	4.374	4.4707	0.11712	0.3696:0.2992:0.3311:0.0	.	171	Q5T7R7	CA185_HUMAN	V	171	.	ENSP00000360824:G171V	G	+	2	0	C1orf185	51385943	0.022000	0.18835	0.007000	0.13788	0.008000	0.06430	0.187000	0.16998	-0.164000	0.10927	-0.304000	0.09214	GGG	C1orf185	-	NULL	ENSG00000204006		0.378	C1orf185-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf185	HGNC	protein_coding	OTTHUMT00000022123.1	-	0.00	64	0	G	NM_001136508		51613355	+1	tier1	-	no_errors	ENST00000371759	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.002	T
OBSCN	84033	genome.wustl.edu	37	1	228400554	228400554	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:228400554C>T	ENST00000422127.1	+	2	1032				C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCGGTCTGCCGTTTCCCACC	0.672																																																	0																																										SO:0001627	intron_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.988+82C>T	1.37:g.228400554C>T			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	NULL	p.T98	ENST00000422127.1	37	c.294	CCDS58065.1	1																																																																																			C1orf145	-	NULL	ENSG00000162913		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	C1orf145	HGNC	protein_coding		-	0.00	78	0	C	NM_052843		228400554	-1	tier1	-	no_errors	ENST00000337335	ensembl	human	known	74_37	silent	31.71	56	26	SNP	0.000	T
NOL4L	140688	genome.wustl.edu	37	20	31041556	31041556	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:31041556delG	ENST00000359676.5	-	4	538	c.396delC	c.(394-396)cccfs	p.P132fs	C20orf112_ENST00000475781.1_5'UTR|RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		132						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CAGAGCTGTAGGGGGGGGACT	0.637																																																	0													22.0	19.0	20.0					20																	31041556		2163	4219	6382	SO:0001589	frameshift_variant	0																														ENST00000359676.5:c.396delC	20.37:g.31041556delG	ENSP00000352704:p.Pro132fs		Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Frame_Shift_Del	DEL	NULL	p.Y133fs	ENST00000359676.5	37	c.396	CCDS13202.1	20																																																																																			C20orf112	-	NULL	ENSG00000197183		0.637	C20orf112-001	KNOWN	basic|CCDS	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078628.2		0.00	45	0	G			31041556	-1	tier1		no_errors	ENST00000359676	ensembl	human	known	74_37	frame_shift_del	35.14	24	13	DEL	0.034	-
CFAP61	26074	genome.wustl.edu	37	20	20147072	20147073	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:20147072_20147073insT	ENST00000245957.5	+	12	1313_1314	c.1237_1238insT	c.(1237-1239)cttfs	p.L413fs	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Frame_Shift_Ins_p.L413fs|C20orf26_ENST00000451767.2_Frame_Shift_Ins_p.L413fs	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		413										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGTTTTCAGTCTTTTTTCTGTA	0.347																																																	0																																										SO:0001589	frameshift_variant	0																														ENST00000245957.5:c.1243dupT	20.37:g.20147078_20147078dupT	ENSP00000245957:p.Leu413fs		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Frame_Shift_Ins	INS	superfamily_Acyl_CoA_acyltransferase	p.S415fs	ENST00000245957.5	37	c.1237_1238	CCDS33447.1	20																																																																																			C20orf26	-	NULL	ENSG00000089101		0.347	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	HGNC	protein_coding	OTTHUMT00000078228.3		0.00	112	0	-			20147073	+1	tier1		no_errors	ENST00000245957	ensembl	human	known	74_37	frame_shift_ins	37.80	79	48	INS	1.000:1.000	T
C21orf2	755	genome.wustl.edu	37	21	45758217	45758217	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:45758217G>A	ENST00000339818.4	-	2	285				AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000325223.7_Intron|AP001062.9_ENST00000426029.1_RNA|C21orf2_ENST00000397956.3_Intron|C21orf2_ENST00000496321.1_5'UTR	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2						cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		CGGTCACTCTGCTGAGTCCCC	0.627											OREG0026251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	0			Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"""nuclear encoded mitochondrial protein"", ""leucine rich repeat containing 76"""	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.78-667C>T	21.37:g.45758217G>A		934	A8MPS9|O14993|Q8N5X6|Q99837|Q99838	RNA	SNP	-	NULL	ENST00000339818.4	37	NULL	CCDS13709.1	21																																																																																			C21orf2	-	-	ENSG00000160226		0.627	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C21orf2	HGNC	protein_coding	OTTHUMT00000195799.1	-	0.00	38	0	G	NM_004928		45758217	-1	tier1	-	no_errors	ENST00000496321	ensembl	human	known	74_37	rna	68.18	7	15	SNP	0.000	A
C2CD3	26005	genome.wustl.edu	37	11	73804962	73804963	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:73804962_73804963delGA	ENST00000334126.7	-	18	3468_3469	c.3242_3243delTC	c.(3241-3243)ctcfs	p.L1083fs	C2CD3_ENST00000313663.7_Frame_Shift_Del_p.L1083fs			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1083					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTGGCAACAGGAGAGAGTGATG	0.485																																																	0																																										SO:0001589	frameshift_variant	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3242_3243delTC	11.37:g.73804966_73804967delGA	ENSP00000334379:p.Leu1083fs		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Frame_Shift_Del	DEL	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	p.L1081fs	ENST00000334126.7	37	c.3243_3242		11																																																																																			C2CD3	-	smart_C2_dom	ENSG00000168014		0.485	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding			0.00	59	0	GA	NM_015531		73804963	-1	tier1		no_errors	ENST00000334126	ensembl	human	known	74_37	frame_shift_del	31.37	35	16	DEL	0.812:1.000	-
C2orf42	54980	genome.wustl.edu	37	2	70392682	70392682	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:70392682delT	ENST00000264434.2	-	7	1609	c.1230delA	c.(1228-1230)aaafs	p.K410fs	C2orf42_ENST00000420306.1_Frame_Shift_Del_p.K410fs	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	410										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TGGGGAGCCGTTTTTTTGCAC	0.408																																																	0													88.0	92.0	90.0					2																	70392682		2203	4300	6503	SO:0001589	frameshift_variant	0			AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1230delA	2.37:g.70392682delT	ENSP00000264434:p.Lys410fs		D6W5G3|Q9H629	Frame_Shift_Del	DEL	NULL	p.K410fs	ENST00000264434.2	37	c.1230	CCDS1899.1	2																																																																																			C2orf42	-	NULL	ENSG00000115998		0.408	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf42	HGNC	protein_coding	OTTHUMT00000251840.1		0.00	55	0	T	NM_017880		70392682	-1			no_errors	ENST00000264434	ensembl	human	known	74_37	frame_shift_del	12.96	47	7	DEL	1.000	0
C2orf71	388939	genome.wustl.edu	37	2	29294162	29294162	+	Frame_Shift_Del	DEL	G	G	-	rs113376827		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:29294162delG	ENST00000331664.5	-	1	2965	c.2966delC	c.(2965-2967)cctfs	p.P989fs		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	989					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCTGCCCACAGGGGGGCTTCT	0.637																																																	0													38.0	41.0	40.0					2																	29294162		1904	4108	6012	SO:0001589	frameshift_variant	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.2966delC	2.37:g.29294162delG	ENSP00000332809:p.Pro989fs			Frame_Shift_Del	DEL	NULL	p.P989fs	ENST00000331664.5	37	c.2966	CCDS42669.1	2																																																																																			C2orf71	-	NULL	ENSG00000179270		0.637	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3		0.00	84	0	G	NM_001029883		29294162	-1	tier1		no_errors	ENST00000331664	ensembl	human	known	74_37	frame_shift_del	29.49	55	23	DEL	0.000	-
C3	718	genome.wustl.edu	37	19	6694571	6694571	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:6694571C>A	ENST00000245907.6	-	24	3117	c.3025G>T	c.(3025-3027)Ggc>Tgc	p.G1009C		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1009					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	TCCCCGCAGCCCGAGGGGGTC	0.612																																																	0													102.0	81.0	88.0					19																	6694571		2203	4300	6503	SO:0001583	missense	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3025G>T	19.37:g.6694571C>A	ENSP00000245907:p.Gly1009Cys		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.G1009C	ENST00000245907.6	37	c.3025	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479917	0.84747	.	.	ENSG00000125730	ENST00000245907	D	0.87103	-2.21	5.76	5.76	0.90799	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);Alpha-2-macroglobulin, thiol-ester bond-forming (1);Alpha-2-macroglobulin, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95962	0.8685	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96871	0.9639	10	0.87932	D	0	.	18.7892	0.91966	0.0:1.0:0.0:0.0	.	1009	P01024	CO3_HUMAN	C	1009	ENSP00000245907:G1009C	ENSP00000245907:G1009C	G	-	1	0	C3	6645571	1.000000	0.71417	0.985000	0.45067	0.578000	0.36192	7.304000	0.78882	2.735000	0.93741	0.650000	0.86243	GGC	C3	-	pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000125730		0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	-	0.00	36	0	C	NM_000064		6694571	-1	tier1	-	no_errors	ENST00000245907	ensembl	human	known	74_37	missense	50.00	24	24	SNP	1.000	A
C3	718	genome.wustl.edu	37	19	6697481	6697481	+	Frame_Shift_Del	DEL	G	G	-	rs137956083	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:6697481delG	ENST00000245907.6	-	21	2762	c.2670delC	c.(2668-2670)cccfs	p.P890fs		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	890					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	ACGAGGACTTGGGGGGGATGG	0.572																																																	0													122.0	96.0	105.0					19																	6697481		2203	4300	6503	SO:0001589	frameshift_variant	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2670delC	19.37:g.6697481delG	ENSP00000245907:p.Pro890fs		A7E236	Frame_Shift_Del	DEL	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.K891fs	ENST00000245907.6	37	c.2670	CCDS32883.1	19																																																																																			C3	-	NULL	ENSG00000125730		0.572	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2		0.00	80	0	G	NM_000064		6697481	-1	tier1		no_errors	ENST00000245907	ensembl	human	known	74_37	frame_shift_del	37.11	61	36	DEL	0.014	-
C3orf20	84077	genome.wustl.edu	37	3	14770040	14770040	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:14770040G>T	ENST00000253697.3	+	12	2237	c.1785G>T	c.(1783-1785)aaG>aaT	p.K595N	C3orf20_ENST00000412910.1_Missense_Mutation_p.K473N|C3orf20_ENST00000435614.1_Missense_Mutation_p.K473N	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	595						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GGCTCCCCAAGCTAAGTTTAT	0.463																																																	0													78.0	74.0	75.0					3																	14770040		2203	4300	6503	SO:0001583	missense	0			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1785G>T	3.37:g.14770040G>T	ENSP00000253697:p.Lys595Asn		Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	NULL	p.K595N	ENST00000253697.3	37	c.1785	CCDS33706.1	3	.	.	.	.	.	.	.	.	.	.	G	6.597	0.478576	0.12521	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.12147	3.0;2.71;2.71	3.31	-0.952	0.10366	.	0.428482	0.19786	N	0.106102	T	0.06781	0.0173	L	0.28400	0.85	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.14578	0.011;0.011	T	0.27905	-1.0060	10	0.30078	T	0.28	-8.2846	0.676	0.00867	0.2461:0.1841:0.3817:0.1881	.	473;595	Q8ND61-2;Q8ND61	.;CC020_HUMAN	N	595;473;473	ENSP00000253697:K595N;ENSP00000402933:K473N;ENSP00000396081:K473N	ENSP00000253697:K595N	K	+	3	2	C3orf20	14745044	0.015000	0.18098	0.000000	0.03702	0.020000	0.10135	0.450000	0.21762	-0.211000	0.10124	-0.463000	0.05309	AAG	C3orf20	-	NULL	ENSG00000131379		0.463	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	-	0.00	91	0	G	NM_032137		14770040	+1	tier1	-	no_errors	ENST00000253697	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.000	T
IGF2BP2	10644	genome.wustl.edu	37	3	185434550	185434550	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:185434550G>A	ENST00000382199.2	-	3	335				IGF2BP2_ENST00000346192.3_Intron|C3orf65_ENST00000296270.1_Missense_Mutation_p.G128E|IGF2BP2_ENST00000457616.2_Intron|IGF2BP2_ENST00000421047.2_Intron	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2						anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GAAGTGGGAGGACATCCTTCA	0.532																																																	0													103.0	112.0	109.0					3																	185434550		2128	4237	6365	SO:0001627	intron_variant	0			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.240-18415C>T	3.37:g.185434550G>A			A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Missense_Mutation	SNP	NULL	p.G128E	ENST00000382199.2	37	c.383	CCDS3273.2	3	.	.	.	.	.	.	.	.	.	.	G	2.712	-0.268560	0.05716	.	.	ENSG00000163915	ENST00000296270	.	.	.	2.41	-4.81	0.03180	.	0.899723	0.09025	N	0.859651	T	0.24122	0.0584	.	.	.	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.20273	-1.0280	8	0.87932	D	0	.	0.479	0.00544	0.3971:0.1321:0.205:0.2658	.	128	Q96M15	CC065_HUMAN	E	128	.	ENSP00000296270:G128E	G	+	2	0	C3orf65	186917244	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.012000	0.12699	-2.266000	0.00687	-0.181000	0.13052	GGA	C3orf65	-	NULL	ENSG00000163915		0.532	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C3orf65	HGNC	protein_coding	OTTHUMT00000157087.2	-	0.00	67	0	G	NM_006548		185434550	+1	tier1	-	no_errors	ENST00000296270	ensembl	human	known	74_37	missense	29.55	31	13	SNP	0.000	A
C4BPB	725	genome.wustl.edu	37	1	207268778	207268778	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:207268778C>T	ENST00000243611.5	+	4	703				C4BPB_ENST00000451804.2_Silent_p.S174S|C4BPB_ENST00000367078.3_Intron|C4BPB_ENST00000367076.3_Intron|C4BPB_ENST00000391923.1_Intron	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta						blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						caggttcaagcagttctcatg	0.488																																																	0																																										SO:0001627	intron_variant	0			L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"""complement component 4 binding protein, beta chain"", ""C4b binding protein, beta chain"""	120831	"""complement component 4-binding protein, beta"""	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.410-1089C>T	1.37:g.207268778C>T			A5JYP8|D3DT81|Q5VVR0|Q9BS25	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S174	ENST00000243611.5	37	c.522	CCDS1476.1	1																																																																																			C4BPB	-	NULL	ENSG00000123843		0.488	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C4BPB	HGNC	protein_coding	OTTHUMT00000087847.2		0.00	12	0	C	NM_000716		207268778	+1			no_errors	ENST00000451804	ensembl	human	known	74_37	silent	23.08	10	3	SNP	0.004	T
C4orf50	389197	genome.wustl.edu	37	4	5982016	5982016	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:5982016G>A	ENST00000324058.5	-	2	142	c.53C>T	c.(52-54)gCc>gTc	p.A18V	C4orf50_ENST00000531445.1_Missense_Mutation_p.A492V			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	18										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GAGCTGCTGGGCCCGCAGCCT	0.612																																																	0													23.0	27.0	26.0					4																	5982016		2203	4300	6503	SO:0001583	missense	0			BC140710		4p16.1	2009-04-14			ENSG00000181215	ENSG00000181215			33766	protein-coding gene	gene with protein product							Standard	XM_003119922		Approved	FLJ46481		Q6ZRC1	OTTHUMG00000149971	ENST00000324058.5:c.53C>T	4.37:g.5982016G>A	ENSP00000317287:p.Ala18Val			Missense_Mutation	SNP	NULL	p.A492V	ENST00000324058.5	37	c.1475		4	.	.	.	.	.	.	.	.	.	.	G	0.628	-0.818536	0.02776	.	.	ENSG00000181215	ENST00000531445;ENST00000324058	T;T	0.16073	2.37;2.37	3.7	-0.363	0.12556	.	2.425220	0.02090	N	0.053083	T	0.04452	0.0122	N	0.01109	-1.01	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36986	-0.9725	10	0.02654	T	1	-0.8793	2.9547	0.05872	0.436:0.2426:0.3214:0.0	.	18	Q6ZRC1	CD050_HUMAN	V	492;18	ENSP00000437121:A492V;ENSP00000317287:A18V	ENSP00000317287:A18V	A	-	2	0	C4orf50	6032917	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.157000	0.16402	0.172000	0.19760	0.655000	0.94253	GCC	C4orf50	-	NULL	ENSG00000181215		0.612	C4orf50-201	KNOWN	basic|appris_candidate	protein_coding	C4orf50	HGNC	protein_coding		-	0.00	55	0	G	NM_207405		5982016	-1	tier1	-	no_errors	ENST00000531445	ensembl	human	known	74_37	missense	35.71	36	20	SNP	0.000	A
C5AR1	728	genome.wustl.edu	37	19	47824042	47824042	+	Silent	SNP	G	G	A	rs142511245		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:47824042G>A	ENST00000355085.3	+	2	1030	c.1008G>A	c.(1006-1008)acG>acA	p.T336T		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	336					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		AGTCATTCACGCGCTCCACAG	0.627																																																	0								G		0,4406		0,0,2203	52.0	51.0	51.0		1008	-5.9	0.0	19	dbSNP_134	51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C5AR1	NM_001736.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		336/351	47824042	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.1008G>A	19.37:g.47824042G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C5AR1/C5AR2,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Formyl_pep_rcpt	p.T336	ENST00000355085.3	37	c.1008	CCDS33063.1	19																																																																																			C5AR1	-	prints_Anaphtx_C5AR1/C5AR2	ENSG00000197405		0.627	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C5AR1	HGNC	protein_coding	OTTHUMT00000466925.1	-	0.00	31	0	G	NM_001736		47824042	+1	tier1	rs142511245	no_errors	ENST00000355085	ensembl	human	known	74_37	silent	50.00	9	9	SNP	0.000	A
C6orf141	135398	genome.wustl.edu	37	6	49518517	49518517	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:49518517T>C	ENST00000529246.2	+	1	405	c.12T>C	c.(10-12)ccT>ccC	p.P4P		NM_001145652.1	NP_001139124	Q5SZD1	CF141_HUMAN	chromosome 6 open reading frame 141	4										breast(1)|prostate(1)	2						TGAATGACCCTTTTGCCAGGA	0.647																																																	0													19.0	22.0	21.0					6																	49518517		692	1591	2283	SO:0001819	synonymous_variant	0			AK054918	CCDS55018.1	6p12.3	2012-02-06			ENSG00000197261	ENSG00000197261			21351	protein-coding gene	gene with protein product							Standard	NM_001145652		Approved	MGC46457	uc011dwo.2	Q5SZD1	OTTHUMG00000014820	ENST00000529246.2:c.12T>C	6.37:g.49518517T>C			A8K1H4|Q8N400|Q96NQ1	Silent	SNP	NULL	p.P4	ENST00000529246.2	37	c.12	CCDS55018.1	6																																																																																			C6orf141	-	NULL	ENSG00000197261		0.647	C6orf141-005	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf141	HGNC	protein_coding	OTTHUMT00000390228.1	-	0.00	77	0	T	NM_153344		49518517	+1	tier1	-	no_errors	ENST00000371194	ensembl	human	known	74_37	silent	38.57	43	27	SNP	0.000	C
C6orf165	154313	genome.wustl.edu	37	6	88120371	88120371	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:88120371G>A	ENST00000507897.1	+	3	260	c.177G>A	c.(175-177)gtG>gtA	p.V59V	C6ORF165_ENST00000369562.4_Silent_p.V59V			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	59										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AAAGTGATGTGCAGAATCTTG	0.358																																																	0													162.0	157.0	159.0					6																	88120371		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.177G>A	6.37:g.88120371G>A			A8K969|E1P507|Q8N9U4	Silent	SNP	pfam_DUF3508	p.V59	ENST00000507897.1	37	c.177	CCDS34498.1	6																																																																																			C6ORF165	-	NULL	ENSG00000272514		0.358	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	C6orf165	Uniprot_gn	protein_coding	OTTHUMT00000470406.1	-	0.00	67	0	G	NM_178823		88120371	+1	tier1	-	no_errors	ENST00000369562	ensembl	human	known	74_37	silent	33.90	39	20	SNP	0.995	A
C7orf55-LUC7L2	100996928	genome.wustl.edu	37	7	139056191	139056191	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:139056191G>A	ENST00000541170.3	+	2	218	c.34G>A	c.(34-36)Gga>Aga	p.G12R	LUC7L2_ENST00000541515.3_Intron|C7orf55-LUC7L2_ENST00000263545.6_5'Flank|C7orf55-LUC7L2_ENST00000354926.4_Intron	NM_001244585.1	NP_001231514.1			C7orf55-LUC7L2 readthrough																		AAAAATACAGGGAGCATCGGA	0.348																																																	0																																										SO:0001583	missense	0				CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000541170.3:c.34G>A	7.37:g.139056191G>A	ENSP00000441604:p.Gly12Arg			Missense_Mutation	SNP	pfam_Luc7-rel	p.G12R	ENST00000541170.3	37	c.34	CCDS59085.1	7	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657187	0.67586	.	.	ENSG00000146963	ENST00000448820;ENST00000541170	T	0.75367	-0.93	4.37	4.37	0.52481	.	.	.	.	.	D	0.85102	0.5620	.	.	.	0.31099	N	0.710612	D	0.89917	1.0	D	0.97110	1.0	D	0.88637	0.3173	7	0.87932	D	0	.	12.7353	0.57220	0.0:0.0:1.0:0.0	.	12	B7Z500	.	R	12	ENSP00000441604:G12R	ENSP00000393173:G12R	G	+	1	0	LUC7L2	138706731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.046000	0.57376	2.718000	0.92993	0.655000	0.94253	GGA	C7orf55-LUC7L2	-	pfam_Luc7-rel	ENSG00000146963		0.348	C7orf55-LUC7L2-005	KNOWN	basic|CCDS	protein_coding	C7orf55-LUC7L2	HGNC	protein_coding	OTTHUMT00000323625.2	-	0.00	55	0	G			139056191	+1	tier1	-	no_errors	ENST00000541170	ensembl	human	known	74_37	missense	45.28	29	24	SNP	1.000	A
C8A	731	genome.wustl.edu	37	1	57378168	57378168	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:57378168G>A	ENST00000361249.3	+	10	1569	c.1473G>A	c.(1471-1473)ctG>ctA	p.L491L		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	491	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ACCAGTATCTGATGGAATTCA	0.637																																																	0													80.0	84.0	83.0					1																	57378168		2203	4300	6503	SO:0001819	synonymous_variant	0			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1473G>A	1.37:g.57378168G>A			A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.L491	ENST00000361249.3	37	c.1473	CCDS606.1	1																																																																																			C8A	-	smart_MACPF,prints_MAC_perforin	ENSG00000157131		0.637	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8A	HGNC	protein_coding	OTTHUMT00000022890.1	-	0.00	49	0	G	NM_000562		57378168	+1	tier1	rs148316319	no_errors	ENST00000361249	ensembl	human	known	74_37	silent	48.08	27	25	SNP	0.996	A
C8orf58	541565	genome.wustl.edu	37	8	22458526	22458526	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:22458526G>T	ENST00000289989.5	+	2	246	c.172G>T	c.(172-174)Gag>Tag	p.E58*	C8orf58_ENST00000409586.3_Nonsense_Mutation_p.E58*|C8orf58_ENST00000453427.2_3'UTR			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	58										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TGTCGGCAGGGAGGCACTCTT	0.627																																																	0													40.0	46.0	44.0					8																	22458526		2202	4299	6501	SO:0001587	stop_gained	0			BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.172G>T	8.37:g.22458526G>T	ENSP00000289989:p.Glu58*		B4DI44	Nonsense_Mutation	SNP	NULL	p.E58*	ENST00000289989.5	37	c.172	CCDS34862.1	8	.	.	.	.	.	.	.	.	.	.	g	13.95	2.388689	0.42308	.	.	ENSG00000248235;ENSG00000241852;ENSG00000241852	ENST00000450780;ENST00000409586;ENST00000289989	.	.	.	4.02	3.13	0.36017	.	0.344301	0.21224	N	0.078092	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-5.1843	10.0895	0.42439	0.0:0.7815:0.2184:0.0	.	.	.	.	X	127;58;58	.	ENSP00000399696:E127X	E	+	1	0	AC037459.4;C8orf58	22514471	0.165000	0.22948	0.014000	0.15608	0.002000	0.02628	2.277000	0.43417	0.967000	0.38186	-0.537000	0.04273	GAG	C8orf58	-	NULL	ENSG00000241852		0.627	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf58	HGNC	protein_coding	OTTHUMT00000334183.1	-	0.00	102	0	G	NM_001013842		22458526	+1	tier1	-	no_errors	ENST00000289989	ensembl	human	known	74_37	nonsense	25.58	96	33	SNP	0.055	T
ERICH5	203111	genome.wustl.edu	37	8	99102178	99102178	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:99102178A>G	ENST00000318528.3	+	2	1292	c.933A>G	c.(931-933)ccA>ccG	p.P311P	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	ERIC5_HUMAN		311	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TGGAGCATCCAGCACGAAATG	0.428																																																	0													118.0	104.0	109.0					8																	99102178		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000318528.3:c.933A>G	8.37:g.99102178A>G			G3V1K4|Q8N1L8	Silent	SNP	NULL	p.P311	ENST00000318528.3	37	c.933	CCDS34929.1	8																																																																																			C8orf47	-	NULL	ENSG00000177459		0.428	C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C8orf47	HGNC	protein_coding	OTTHUMT00000380465.1	-	0.00	27	0	A			99102178	+1	tier1	-	no_errors	ENST00000318528	ensembl	human	known	74_37	silent	26.53	36	13	SNP	0.000	G
C8orf31	286122	genome.wustl.edu	37	8	144126186	144126186	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:144126186C>T	ENST00000395172.1	+	4	659	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	103										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTTCCAAGACCGCCAAGCATC	0.612																																																	0													69.0	61.0	63.0					8																	144126186		2203	4300	6503	SO:0001583	missense	0				CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.307C>T	8.37:g.144126186C>T	ENSP00000378601:p.Arg103Cys		Q6GMU7	Missense_Mutation	SNP	NULL	p.R103C	ENST00000395172.1	37	c.307	CCDS6395.1	8	.	.	.	.	.	.	.	.	.	.	c	3.024	-0.201064	0.06219	.	.	ENSG00000177335	ENST00000395172	T	0.56941	0.43	1.79	-1.24	0.09435	.	.	.	.	.	T	0.26376	0.0644	N	0.08118	0	0.09310	N	1	D	0.60160	0.987	B	0.40329	0.326	T	0.20140	-1.0284	9	0.87932	D	0	.	5.0238	0.14374	0.0:0.4632:0.0:0.5368	.	103	Q8N9H6	CH031_HUMAN	C	103	ENSP00000378601:R103C	ENSP00000378601:R103C	R	+	1	0	C8orf31	144197561	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.306000	0.08178	-0.378000	0.07918	-0.281000	0.10026	CGC	C8orf31	-	NULL	ENSG00000177335		0.612	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf31	HGNC	protein_coding	OTTHUMT00000380167.1	-	0.00	37	0	C	NM_173687		144126186	+1	tier1	-	no_errors	ENST00000395172	ensembl	human	known	74_37	missense	38.71	19	12	SNP	0.000	T
C9orf16	79095	genome.wustl.edu	37	9	130925726	130925726	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:130925726C>T	ENST00000372994.1	+	2	232	c.84C>T	c.(82-84)taC>taT	p.Y28Y	C9orf16_ENST00000492588.1_3'UTR	NM_024112.3	NP_077017.1	Q9BUW7	CI016_HUMAN	chromosome 9 open reading frame 16	28										ovary(1)	1		Myeloproliferative disorder(762;0.0511)		GBM - Glioblastoma multiforme(294;0.0294)		TCCCAGAATACGCTGCCATCA	0.587																																																	0													70.0	67.0	68.0					9																	130925726		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022885	CCDS6893.1	9q34.1	2012-03-06			ENSG00000171159	ENSG00000171159			17823	protein-coding gene	gene with protein product						10369878	Standard	NM_024112		Approved	EST00098, FLJ12823, MGC4639	uc004btp.1	Q9BUW7	OTTHUMG00000020731	ENST00000372994.1:c.84C>T	9.37:g.130925726C>T			Q5SYV8|Q9Y3F7	Silent	SNP	pfam_UPF0184	p.Y28	ENST00000372994.1	37	c.84	CCDS6893.1	9																																																																																			C9orf16	-	pfam_UPF0184	ENSG00000171159		0.587	C9orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf16	HGNC	protein_coding	OTTHUMT00000054351.1	-	0.00	47	0	C	NM_024112		130925726	+1	tier1	-	no_errors	ENST00000372994	ensembl	human	known	74_37	silent	42.55	27	20	SNP	0.993	T
C9orf78	51759	genome.wustl.edu	37	9	132595850	132595850	+	Intron	DEL	T	T	-	rs147726772		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:132595850delT	ENST00000372447.3	-	4	249				USP20_ENST00000358355.1_5'Flank|USP20_ENST00000372429.3_5'Flank|C9orf78_ENST00000461762.1_5'UTR|USP20_ENST00000315480.4_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78							cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				GGTAGTGGAATTTTTTTTTTT	0.443																																																	0													93.0	74.0	80.0					9																	132595850		692	1591	2283	SO:0001627	intron_variant	0			BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 59"""					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.196-54A>-	9.37:g.132595850delT			B3KPX8|Q8WVU6|Q9NT39	RNA	DEL	-	NULL	ENST00000372447.3	37	NULL	CCDS6931.1	9																																																																																			C9orf78	-	-	ENSG00000136819		0.443	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf78	HGNC	protein_coding	OTTHUMT00000054625.1		0.00	60	0	T	NM_016520		132595850	-1	tier1		no_errors	ENST00000461762	ensembl	human	known	74_37	rna	43.10	33	25	DEL	0.032	-
STKLD1	169436	genome.wustl.edu	37	9	136259328	136259328	+	Intron	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:136259328delG	ENST00000371957.3	+	8	690				C9orf96_ENST00000371955.1_Intron	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN									ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGCCACCAAAGGGGATACAGT	0.572																																																	0																																										SO:0001627	intron_variant	0																														ENST00000371957.3:c.584-90G>-	9.37:g.136259328delG			Q5T8U8|Q6ZMP6|Q6ZMQ5	RNA	DEL	-	NULL	ENST00000371957.3	37	NULL	CCDS35169.1	9																																																																																			C9orf96	-	-	ENSG00000198870		0.572	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf96	HGNC	protein_coding	OTTHUMT00000054855.1		0.00	66	0	G			136259328	+1	tier1		no_errors	ENST00000462310	ensembl	human	known	74_37	rna	29.79	33	14	DEL	0.004	-
CA10	56934	genome.wustl.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:50008356_50008357insC	ENST00000285273.4	-	4	1383_1384	c.272_273insG	c.(271-273)ggcfs	p.G91fs	CA10_ENST00000340813.6_Frame_Shift_Ins_p.G97fs|CA10_ENST00000451037.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.G91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.G16fs	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development (GO:0007420)			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	TTACCTTCCTGCCCCCCGTGTT	0.49																																																	1	Substitution - Missense(1)	lung(1)																																								SO:0001589	frameshift_variant	0			AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.273dupG	17.37:g.50008362_50008362dupC	ENSP00000285273:p.Gly91fs		B2R7J0|B4DGL6	Frame_Shift_Ins	INS	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.R98fs	ENST00000285273.4	37	c.291_290	CCDS32684.1	17																																																																																			CA10	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000154975		0.490	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CA10	HGNC	protein_coding	OTTHUMT00000437480.1		0.00	62	0	-	NM_020178		50008357	-1	tier1		no_errors	ENST00000340813	ensembl	human	known	74_37	frame_shift_ins	50.91	27	28	INS	0.994:1.000	C
CA5BP1	340591	genome.wustl.edu	37	X	15721077	15721077	+	RNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:15721077G>A	ENST00000380334.2	+	0	494							Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB pseudogene 1							mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)										GTCCGCATCCGGCCCCTCCGC	0.632																																																	0																																												0			BC021816		Xp22.2	2012-11-02	2011-02-07	2011-02-07	ENSG00000186312	ENSG00000186312			29544	pseudogene	pseudogene	"""similar to carbonic anhydrase VB, mitochondrial precursor"", ""carbonic dehydratase"""		"""carbonic anhydrase VB-like"", ""carbonic anhydrase VB pseudogene"""	CA5BL, CA5BP		12477932	Standard	NR_026551		Approved	PRO2325	uc011mir.1	Q8WTZ4	OTTHUMG00000021182		X.37:g.15721077G>A			A6NEZ4	RNA	SNP	-	NULL	ENST00000380334.2	37	NULL		X																																																																																			CA5BP1	-	-	ENSG00000186312		0.632	CA5BP1-005	KNOWN	basic	processed_transcript	CA5BP1	HGNC	pseudogene	OTTHUMT00000055884.3	-	0.00	31	0	G	NR_026551		15721077	+1	tier1	-	no_errors	ENST00000380333	ensembl	human	known	74_37	rna	93.75	2	30	SNP	0.000	A
CACNA1E	777	genome.wustl.edu	37	1	181687262	181687262	+	Missense_Mutation	SNP	C	C	T	rs373651535		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:181687262C>T	ENST00000367573.2	+	12	1597	c.1597C>T	c.(1597-1599)Cgc>Tgc	p.R533C	CACNA1E_ENST00000526775.1_Missense_Mutation_p.R533C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R140C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R533C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R484C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R533C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R484C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	533					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CATGGGGCCTCGCCTTTATTT	0.453																																																	0								C	CYS/ARG,CYS/ARG,CYS/ARG	0,3792		0,0,1896	115.0	108.0	110.0		1597,1597,1597	5.6	1.0	1		110	1,8239		0,1,4119	no	missense,missense,missense	CACNA1E	NM_000721.3,NM_001205293.1,NM_001205294.1	180,180,180	0,1,6015	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging	533/2271,533/2314,533/2252	181687262	1,12031	1896	4120	6016	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1597C>T	1.37:g.181687262C>T	ENSP00000356545:p.Arg533Cys		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R533C	ENST00000367573.2	37	c.1597	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891248	0.91889	0.0	1.21E-4	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97791	-4.54;-4.54;-4.54;-4.54;-4.54;-4.54;-4.54	5.57	5.57	0.84162	.	0.095439	0.64402	D	0.000001	D	0.98943	0.9641	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.99737	1.1014	10	0.87932	D	0	.	19.148	0.93476	0.0:1.0:0.0:0.0	.	533;533	Q15878-2;Q15878-3	.;.	C	533;533;484;484;140;533;533	ENSP00000356542:R533C;ENSP00000434814:R533C;ENSP00000350183:R484C;ENSP00000351101:R484C;ENSP00000356539:R140C;ENSP00000353222:R533C;ENSP00000356545:R533C	ENSP00000350183:R484C	R	+	1	0	CACNA1E	179953885	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.601000	0.61090	2.621000	0.88768	0.655000	0.94253	CGC	CACNA1E	-	pfam_Ion_trans_dom	ENSG00000198216		0.453	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0.00	67	0	C	NM_000721		181687262	+1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	10.81	99	12	SNP	1.000	T
CACNA1E	777	genome.wustl.edu	37	1	181726119	181726119	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:181726119C>T	ENST00000367573.2	+	30	4186	c.4186C>T	c.(4186-4188)Cgc>Tgc	p.R1396C	CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1377C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1003C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1396C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1347C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1377C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1328C	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1396					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCGCAGCAACCGCATGGAGAT	0.488																																																	0													180.0	188.0	186.0					1																	181726119		1965	4166	6131	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4186C>T	1.37:g.181726119C>T	ENSP00000356545:p.Arg1396Cys		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R1396C	ENST00000367573.2	37	c.4186	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205134	0.79127	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	5.75	5.75	0.90469	Ion transport (1);	0.050918	0.85682	D	0.000000	D	0.99067	0.9680	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.992;1.0;0.997	D	0.99782	1.1028	10	0.87932	D	0	.	19.5549	0.95342	0.0:1.0:0.0:0.0	.	1377;1396;1396	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	C	1396;1377;1347;1328;1003;1377;1396	ENSP00000356542:R1396C;ENSP00000434814:R1377C;ENSP00000350183:R1347C;ENSP00000351101:R1328C;ENSP00000356539:R1003C;ENSP00000353222:R1377C;ENSP00000356545:R1396C	ENSP00000350183:R1347C	R	+	1	0	CACNA1E	179992742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.134000	0.50538	2.716000	0.92895	0.655000	0.94253	CGC	CACNA1E	-	pfam_Ion_trans_dom	ENSG00000198216		0.488	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	-	0.00	99	0	C	NM_000721		181726119	+1	tier1	-	no_errors	ENST00000367573	ensembl	human	known	74_37	missense	31.13	73	33	SNP	1.000	T
CACNA1F	778	genome.wustl.edu	37	X	49087004	49087004	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:49087004G>A	ENST00000376265.2	-	5	650	c.589C>T	c.(589-591)Cca>Tca	p.P197S	CACNA1F_ENST00000323022.5_Missense_Mutation_p.P197S|CACNA1F_ENST00000376251.1_Missense_Mutation_p.P132S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	197					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.P197S(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGCCTCCTGGCTTTCCCCCG	0.697																																																	1	Substitution - Missense(1)	lung(1)											29.0	27.0	28.0					X																	49087004		2199	4297	6496	SO:0001583	missense	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.589C>T	X.37:g.49087004G>A	ENSP00000365441:p.Pro197Ser		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.P197S	ENST00000376265.2	37	c.589	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	G	4.511	0.094867	0.08681	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97161	-4.27;-4.27;-4.27	4.03	4.03	0.46877	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	L	0.37750	1.13	0.39071	D	0.960722	B;B	0.24963	0.094;0.115	B;B	0.23419	0.027;0.046	D	0.91185	0.4979	10	0.11485	T	0.65	.	14.3437	0.66646	0.0:0.0:1.0:0.0	.	197;197	F5CIQ9;O60840	.;CAC1F_HUMAN	S	132;197;197	ENSP00000365427:P132S;ENSP00000321618:P197S;ENSP00000365441:P197S	ENSP00000321618:P197S	P	-	1	0	CACNA1F	48973948	1.000000	0.71417	0.946000	0.38457	0.572000	0.35998	2.580000	0.46068	1.601000	0.50113	0.287000	0.19450	CCA	CACNA1F	-	pfam_Ion_trans_dom	ENSG00000102001		0.697	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	-	0.00	37	0	G	NM_005183		49087004	-1	tier1	-	no_errors	ENST00000376265	ensembl	human	known	74_37	missense	90.62	3	29	SNP	1.000	A
CACNA1H	8912	genome.wustl.edu	37	16	1245456	1245456	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:1245456delT	ENST00000348261.5	+	4	684	c.436delT	c.(436-438)tttfs	p.F147fs	CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.F147fs|CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.F147fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	147					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CATTTTCGCCTTTTTTGCGGT	0.587																																																	0									,	15,3819		1,13,1903	91.0	83.0	86.0		,	2.7	1.0	16		86	41,7915		8,25,3945	no	frameshift,frameshift	CACNA1H	NM_021098.2,NM_001005407.1	,	9,38,5848	A1A1,A1R,RR		0.5153,0.3912,0.475	,	,	1245456	56,11734	2013	4166	6179	SO:0001589	frameshift_variant	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.436delT	16.37:g.1245456delT	ENSP00000334198:p.Phe147fs		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.F147fs	ENST00000348261.5	37	c.436	CCDS45375.1	16																																																																																			CACNA1H	-	pfam_Ion_trans_dom	ENSG00000196557		0.587	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1		0.00	98	0	T	NM_001005407		1245456	+1	tier1		no_errors	ENST00000348261	ensembl	human	known	74_37	frame_shift_del	39.29	51	33	DEL	1.000	-
CACNA1S	779	genome.wustl.edu	37	1	201052298	201052298	+	Missense_Mutation	SNP	C	C	T	rs146696298		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:201052298C>T	ENST00000362061.3	-	10	1611	c.1385G>A	c.(1384-1386)cGt>cAt	p.R462H	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R462H	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	462					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCTTGCAAACGGGTCAGCCA	0.557																																																	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	78.0	66.0	70.0		1385	-0.9	0.1	1	dbSNP_134	70	0,8600		0,0,4300	no	missense	CACNA1S	NM_000069.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	462/1874	201052298	1,13005	2203	4300	6503	SO:0001583	missense	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1385G>A	1.37:g.201052298C>T	ENSP00000355192:p.Arg462His		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.R462H	ENST00000362061.3	37	c.1385	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.756982	0.00657	2.27E-4	0.0	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97480	-4.4;-4.4	4.53	-0.908	0.10517	.	1.038830	0.07484	N	0.904426	D	0.89736	0.6801	N	0.05534	-0.03	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.81165	-0.1057	10	0.17832	T	0.49	.	6.0446	0.19752	0.122:0.3748:0.0:0.5032	.	462	Q13698	CAC1S_HUMAN	H	462	ENSP00000355192:R462H;ENSP00000356307:R462H	ENSP00000355192:R462H	R	-	2	0	CACNA1S	199318921	0.000000	0.05858	0.073000	0.20177	0.029000	0.11900	0.171000	0.16685	-0.065000	0.13021	-1.246000	0.01523	CGT	CACNA1S	-	NULL	ENSG00000081248		0.557	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	-	0.00	48	0	C	NM_000069		201052298	-1	tier1	rs146696298	no_errors	ENST00000362061	ensembl	human	known	74_37	missense	26.00	37	13	SNP	0.000	T
CACNA2D4	93589	genome.wustl.edu	37	12	2019083	2019083	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:2019083C>A	ENST00000382722.5	-	4	837	c.475G>T	c.(475-477)Gaa>Taa	p.E159*	CACNA2D4_ENST00000585708.1_Nonsense_Mutation_p.E95*|CACNA2D4_ENST00000588077.1_Nonsense_Mutation_p.E95*|CACNA2D4_ENST00000585732.1_Nonsense_Mutation_p.E159*|CACNA2D4_ENST00000586184.1_Nonsense_Mutation_p.E159*|CACNA2D4_ENST00000587995.1_Nonsense_Mutation_p.E159*	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	159					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACCAGGGATTCATTGAATTCG	0.602																																					Colon(2;101 179 21030 23310 28141)												0													46.0	50.0	49.0					12																	2019083		1934	4138	6072	SO:0001587	stop_gained	0			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.475G>T	12.37:g.2019083C>A	ENSP00000372169:p.Glu159*		Q7Z3S8|Q86XZ5|Q8IZS9	Nonsense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.E159*	ENST00000382722.5	37	c.475	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717959	0.89205	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	.	.	.	5.54	3.73	0.42828	.	0.420965	0.26099	N	0.026345	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	6.746	0.23462	0.1415:0.7071:0.0:0.1514	.	.	.	.	X	95;159;159	.	ENSP00000280663:E159X	E	-	1	0	CACNA2D4	1889344	0.018000	0.18449	0.018000	0.16275	0.091000	0.18340	0.604000	0.24164	0.718000	0.32166	-0.221000	0.12465	GAA	CACNA2D4	-	pfam_VWA_N	ENSG00000151062		0.602	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2	-	0.00	30	0	C			2019083	-1	tier1	-	no_errors	ENST00000382722	ensembl	human	known	74_37	nonsense	15.38	44	8	SNP	0.025	A
CACNG5	27091	genome.wustl.edu	37	17	64873530	64873530	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:64873530C>T	ENST00000533854.1	+	2	317	c.80C>T	c.(79-81)gCg>gTg	p.A27V	CACNG5_ENST00000169565.3_Missense_Mutation_p.A27V|CACNG5_ENST00000307139.3_Missense_Mutation_p.A27V			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	27					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CTGGGTATCGCGGTCAGCACC	0.617																																																	0													166.0	122.0	137.0					17																	64873530		2203	4300	6503	SO:0001583	missense	0			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.80C>T	17.37:g.64873530C>T	ENSP00000436836:p.Ala27Val		A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.A27V	ENST00000533854.1	37	c.80	CCDS11665.1	17	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393463	0.83011	.	.	ENSG00000075429	ENST00000533854;ENST00000307139;ENST00000169565	D;D;D	0.91407	-2.84;-2.84;-2.84	4.82	4.82	0.62117	.	0.068867	0.56097	D	0.000025	D	0.92753	0.7696	M	0.88105	2.93	0.53005	D	0.999969	P	0.41524	0.753	B	0.41666	0.363	D	0.94255	0.7497	10	0.72032	D	0.01	-31.8475	17.4946	0.87714	0.0:1.0:0.0:0.0	.	27	Q9UF02	CCG5_HUMAN	V	27	ENSP00000436836:A27V;ENSP00000303092:A27V;ENSP00000169565:A27V	ENSP00000169565:A27V	A	+	2	0	CACNG5	62303992	1.000000	0.71417	0.889000	0.34880	0.310000	0.27922	7.158000	0.77470	2.672000	0.90937	0.650000	0.86243	GCG	CACNG5	-	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu	ENSG00000075429		0.617	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	HGNC	protein_coding	OTTHUMT00000389882.1	-	0.00	72	0	C	NM_014404, NM_145811		64873530	+1	tier1	-	no_errors	ENST00000169565	ensembl	human	known	74_37	missense	40.32	37	25	SNP	0.997	T
CACNG5	27091	genome.wustl.edu	37	17	64873628	64873628	+	Missense_Mutation	SNP	C	C	T	rs141219015	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:64873628C>T	ENST00000533854.1	+	2	415	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	CACNG5_ENST00000169565.3_Missense_Mutation_p.R60W|CACNG5_ENST00000307139.3_Missense_Mutation_p.R60W			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	60					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			AGGCCTCTGGCGGGTCTGCTT	0.632													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20463	0.0		0.001	False		,,,				2504	0.0																0								C	TRP/ARG	6,4400	11.4+/-27.6	0,6,2197	94.0	73.0	80.0		178	-0.3	1.0	17	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CACNG5	NM_145811.2	101	0,7,6496	TT,TC,CC		0.0116,0.1362,0.0538	probably-damaging	60/276	64873628	7,12999	2203	4300	6503	SO:0001583	missense	0			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.178C>T	17.37:g.64873628C>T	ENSP00000436836:p.Arg60Trp		A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.R60W	ENST00000533854.1	37	c.178	CCDS11665.1	17	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390675	0.62066	0.001362	1.16E-4	ENSG00000075429	ENST00000533854;ENST00000307139;ENST00000169565	D;D;D	0.90676	-2.71;-2.71;-2.71	4.54	-0.278	0.12894	.	0.000000	0.85682	D	0.000000	D	0.94938	0.8363	M	0.87038	2.855	0.50313	D	0.999862	D	0.89917	1.0	D	0.87578	0.998	D	0.94590	0.7787	10	0.66056	D	0.02	-33.6565	13.6578	0.62348	0.7218:0.2782:0.0:0.0	.	60	Q9UF02	CCG5_HUMAN	W	60	ENSP00000436836:R60W;ENSP00000303092:R60W;ENSP00000169565:R60W	ENSP00000169565:R60W	R	+	1	2	CACNG5	62304090	1.000000	0.71417	0.997000	0.53966	0.950000	0.60333	1.288000	0.33296	0.228000	0.21019	-0.320000	0.08662	CGG	CACNG5	-	pfam_PMP22/EMP/MP20/Claudin	ENSG00000075429		0.632	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	HGNC	protein_coding	OTTHUMT00000389882.1	-	0.00	43	0	C	NM_014404, NM_145811		64873628	+1	tier1	rs141219015	no_errors	ENST00000169565	ensembl	human	known	74_37	missense	39.02	25	16	SNP	1.000	T
CACNG5	27091	genome.wustl.edu	37	17	64881306	64881306	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:64881306C>T	ENST00000533854.1	+	6	1014	c.777C>T	c.(775-777)ccC>ccT	p.P259P	CACNG5_ENST00000307139.3_Silent_p.P259P			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	259				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). {ECO:0000305}.	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GCAACTACCCCGCCTTGCTCA	0.632																																																	0													68.0	57.0	61.0					17																	64881306		2203	4300	6503	SO:0001819	synonymous_variant	0			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.777C>T	17.37:g.64881306C>T			A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.P259	ENST00000533854.1	37	c.777	CCDS11665.1	17																																																																																			CACNG5	-	NULL	ENSG00000075429		0.632	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	HGNC	protein_coding	OTTHUMT00000389882.1	-	0.00	52	0	C	NM_014404, NM_145811		64881306	+1	tier1	-	no_errors	ENST00000307139	ensembl	human	known	74_37	silent	35.14	24	13	SNP	0.066	T
CAD	790	genome.wustl.edu	37	2	27457496	27457496	+	Frame_Shift_Del	DEL	G	G	-	rs148230583		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:27457496delG	ENST00000403525.1	+	22	3684	c.3540delG	c.(3538-3540)atgfs	p.M1180fs	CAD_ENST00000264705.4_Frame_Shift_Del_p.M1243fs			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTCATCATGGGGGAAGAAG	0.512																																																	0													113.0	107.0	109.0					2																	27457496		2203	4300	6503	SO:0001589	frameshift_variant	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3540delG	2.37:g.27457496delG	ENSP00000384510:p.Met1180fs		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Frame_Shift_Del	DEL	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.E1245fs	ENST00000403525.1	37	c.3729		2																																																																																			CAD	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,tigrfam_CarbamoylP_synth_lsu	ENSG00000084774		0.512	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1		0.00	78	0	G			27457496	+1			no_errors	ENST00000264705	ensembl	human	known	74_37	frame_shift_del	7.45	87	7	DEL	1.000	0
CALD1	800	genome.wustl.edu	37	7	134653474	134653475	+	3'UTR	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:134653474_134653475insT	ENST00000361675.2	+	0	2989_2990				CALD1_ENST00000422748.1_3'UTR|CALD1_ENST00000393118.2_3'UTR|CALD1_ENST00000361901.2_3'UTR|CALD1_ENST00000424922.1_3'UTR|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000495522.1_3'UTR|CALD1_ENST00000361388.2_3'UTR			Q05682	CALD1_HUMAN	caldesmon 1						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CGTAGTTTTTGTTTTTTTAAAT	0.337																																																	0																																										SO:0001624	3_prime_UTR_variant	0			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.*379->T	7.37:g.134653481_134653481dupT			A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	RNA	INS	-	NULL	ENST00000361675.2	37	NULL	CCDS5835.1	7																																																																																			CALD1	-	-	ENSG00000122786		0.337	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	CALD1	HGNC	protein_coding	OTTHUMT00000339939.1		0.00	35	0	-	NM_033138		134653475	+1	tier1		no_errors	ENST00000466704	ensembl	human	known	74_37	rna	25.93	20	7	INS	0.000:0.008	T
CAMKK2	10645	genome.wustl.edu	37	12	121678328	121678330	+	3'UTR	DEL	TTT	TTT	-	rs398056010|rs201965034		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:121678328_121678330delTTT	ENST00000324774.5	-	0	2767_2769				CAMKK2_ENST00000392474.2_In_Frame_Del_p.K538del|CAMKK2_ENST00000538733.1_3'UTR|CAMKK2_ENST00000337174.3_3'UTR|CAMKK2_ENST00000404169.3_3'UTR|CAMKK2_ENST00000412367.2_3'UTR|CAMKK2_ENST00000347034.2_3'UTR|CAMKK2_ENST00000545538.1_In_Frame_Del_p.K325del	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta						calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGTCAAGTCCTTTTTTTTTTTTT	0.498																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.*174AAA>-	12.37:g.121678337_121678339delTTT			A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	In_Frame_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K538in_frame_del	ENST00000324774.5	37	c.1614_1612	CCDS9216.1	12																																																																																			CAMKK2	-	NULL	ENSG00000110931		0.498	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMKK2	HGNC	protein_coding	OTTHUMT00000402563.1		0.00	55	0	TTT	NM_172226		121678330	-1	tier1		no_errors	ENST00000392474	ensembl	human	known	74_37	in_frame_del	50.00	16	16	DEL	0.000:0.000:0.002	-
CAMKK2	10645	genome.wustl.edu	37	12	121712281	121712281	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:121712281delG	ENST00000324774.5	-	2	877	c.49delC	c.(49-51)cagfs	p.Q17fs	CAMKK2_ENST00000446440.2_Frame_Shift_Del_p.Q17fs|CAMKK2_ENST00000392474.2_Frame_Shift_Del_p.Q17fs|CAMKK2_ENST00000538733.1_Frame_Shift_Del_p.Q17fs|CAMKK2_ENST00000337174.3_Frame_Shift_Del_p.Q17fs|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000404169.3_Frame_Shift_Del_p.Q17fs|CAMKK2_ENST00000392473.2_Frame_Shift_Del_p.Q17fs|CAMKK2_ENST00000412367.2_Frame_Shift_Del_p.Q17fs|CAMKK2_ENST00000347034.2_Frame_Shift_Del_p.Q17fs|CAMKK2_ENST00000402834.4_Frame_Shift_Del_p.Q17fs	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	17					calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCTCATCCTGGGGGGCGGCC	0.662																																																	0													12.0	16.0	14.0					12																	121712281		2139	4209	6348	SO:0001589	frameshift_variant	0			AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.49delC	12.37:g.121712281delG	ENSP00000312741:p.Gln17fs		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q17fs	ENST00000324774.5	37	c.49	CCDS9216.1	12																																																																																			CAMKK2	-	NULL	ENSG00000110931		0.662	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMKK2	HGNC	protein_coding	OTTHUMT00000402563.1		0.00	54	0	G	NM_172226		121712281	-1	tier1		no_errors	ENST00000324774	ensembl	human	known	74_37	frame_shift_del	41.67	28	20	DEL	1.000	-
CAMSAP1	157922	genome.wustl.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832|rs201838505	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)accfs	p.T466fs	CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.T188fs|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.T477fs|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.46																																																	0																																										SO:0001589	frameshift_variant	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1397dupA	9.37:g.138715808_138715808dupT	ENSP00000374183:p.Thr466fs		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Frame_Shift_Ins	INS	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.T477fs	ENST00000389532.4	37	c.1430_1429	CCDS35176.2	9																																																																																			CAMSAP1	-	NULL	ENSG00000130559		0.460	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2		0.00	42	0	-	XM_351857		138715800	-1	tier1		no_errors	ENST00000409386	ensembl	human	known	74_37	frame_shift_ins	6.67	28	2	INS	0.022:0.003	T
CAMSAP2	23271	genome.wustl.edu	37	1	200822549	200822549	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:200822549delA	ENST00000236925.4	+	14	3831	c.3782delA	c.(3781-3783)caafs	p.Q1261fs	CAMSAP2_ENST00000413307.2_Frame_Shift_Del_p.Q1234fs|CAMSAP2_ENST00000358823.2_Frame_Shift_Del_p.Q1250fs			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1261				Q -> K (in Ref. 3; AAH56910). {ECO:0000305}.	microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										GTAGTAAAACAAAAAAAACAG	0.368																																																	0													96.0	100.0	99.0					1																	200822549		2203	4300	6503	SO:0001589	frameshift_variant	0			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.3782delA	1.37:g.200822549delA	ENSP00000236925:p.Gln1261fs		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Frame_Shift_Del	DEL	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.K1263fs	ENST00000236925.4	37	c.3782		1																																																																																			CAMSAP2	-	NULL	ENSG00000118200		0.368	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2		0.00	26	0	A	NM_203459		200822549	+1	tier1		no_errors	ENST00000236925	ensembl	human	known	74_37	frame_shift_del	17.24	24	5	DEL	0.945	-
CAMSAP3	57662	genome.wustl.edu	37	19	7670318	7670318	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:7670318G>A	ENST00000160298.4	+	2	456	c.355G>A	c.(355-357)Gag>Aag	p.E119K	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.E119K	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	119					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						TGCTTTGCCCGAGCGCCCGGT	0.687																																																	0													22.0	26.0	25.0					19																	7670318		1964	4143	6107	SO:0001583	missense	0			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.355G>A	19.37:g.7670318G>A	ENSP00000160298:p.Glu119Lys		Q8NDF1	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain	p.E119K	ENST00000160298.4	37	c.355	CCDS42489.1	19	.	.	.	.	.	.	.	.	.	.	g	16.15	3.042509	0.55003	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.16597	2.38;2.33	4.45	4.45	0.53987	.	0.270733	0.33092	N	0.005282	T	0.23649	0.0572	L	0.54323	1.7	0.39829	D	0.972944	P;D	0.62365	0.939;0.991	B;P	0.46320	0.236;0.512	T	0.10451	-1.0629	10	0.72032	D	0.01	-18.7141	15.8571	0.78987	0.0:0.0:1.0:0.0	.	119;119	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	K	119	ENSP00000416797:E119K;ENSP00000160298:E119K	ENSP00000160298:E119K	E	+	1	0	KIAA1543	7576318	1.000000	0.71417	0.950000	0.38849	0.076000	0.17211	7.166000	0.77553	2.005000	0.58758	0.478000	0.44815	GAG	CAMSAP3	-	NULL	ENSG00000076826		0.687	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAMSAP3	HGNC	protein_coding	OTTHUMT00000459300.1	-	0.00	29	0	G	XM_048362		7670318	+1	tier1	-	no_errors	ENST00000446248	ensembl	human	known	74_37	missense	42.86	8	6	SNP	0.889	A
CAMTA1	23261	genome.wustl.edu	37	1	7723499	7723499	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:7723499G>A	ENST00000303635.7	+	9	1099	c.892G>A	c.(892-894)Ggg>Agg	p.G298R	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G298R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGGGGGGTACGGGAGCCACTC	0.637			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0													104.0	108.0	107.0					1																	7723499		2203	4300	6503	SO:0001583	missense	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.892G>A	1.37:g.7723499G>A	ENSP00000306522:p.Gly298Arg		A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.G298R	ENST00000303635.7	37	c.892	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	g	15.70	2.911005	0.52439	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.24350	1.86;1.86	4.89	3.85	0.44370	.	0.105599	0.37530	N	0.002056	T	0.14614	0.0353	N	0.08118	0	0.33274	D	0.561364	D	0.56746	0.977	P	0.47915	0.561	T	0.07102	-1.0790	10	0.46703	T	0.11	-19.4209	5.7233	0.17998	0.3028:0.0:0.6972:0.0	.	298	Q9Y6Y1	CMTA1_HUMAN	R	298	ENSP00000306522:G298R;ENSP00000402561:G298R	ENSP00000306522:G298R	G	+	1	0	CAMTA1	7646086	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.493000	0.60341	2.271000	0.75665	0.549000	0.68633	GGG	CAMTA1	-	NULL	ENSG00000171735		0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	HGNC	protein_coding	OTTHUMT00000003588.3	-	0.00	111	0	G	NM_015215		7723499	+1	tier1	-	no_errors	ENST00000303635	ensembl	human	known	74_37	missense	36.59	52	30	SNP	1.000	A
CAPG	822	genome.wustl.edu	37	2	85622671	85622671	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:85622671delG	ENST00000409921.1	-	9	992	c.926delC	c.(925-927)ccgfs	p.P309fs	CAPG_ENST00000409670.1_Frame_Shift_Del_p.P324fs|CAPG_ENST00000483659.1_5'Flank|CAPG_ENST00000263867.4_Frame_Shift_Del_p.P324fs|CAPG_ENST00000409724.1_Frame_Shift_Del_p.P324fs			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						CTGAGTGTTCGGGGCGTACTG	0.602																																																	0													59.0	53.0	55.0					2																	85622671		2203	4300	6503	SO:0001589	frameshift_variant	0			M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.926delC	2.37:g.85622671delG	ENSP00000387063:p.Pro309fs		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Frame_Shift_Del	DEL	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.P324fs	ENST00000409921.1	37	c.971	CCDS58715.1	2																																																																																			CAPG	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin	ENSG00000042493		0.602	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	CAPG	HGNC	protein_coding	OTTHUMT00000329383.1		0.00	41	0	G	NM_001747		85622671	-1	tier1		no_errors	ENST00000263867	ensembl	human	known	74_37	frame_shift_del	46.15	21	18	DEL	0.057	-
CAPG	822	genome.wustl.edu	37	2	85622675	85622675	+	Missense_Mutation	SNP	C	C	T	rs566538644		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:85622675C>T	ENST00000409921.1	-	9	988	c.922G>A	c.(922-924)Gcc>Acc	p.A308T	CAPG_ENST00000409670.1_Missense_Mutation_p.A323T|CAPG_ENST00000483659.1_5'Flank|CAPG_ENST00000263867.4_Missense_Mutation_p.A323T|CAPG_ENST00000409724.1_Missense_Mutation_p.A323T			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						GTGTTCGGGGCGTACTGCATG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		16906	0.001		0.0	False		,,,				2504	0.0																0													60.0	54.0	56.0					2																	85622675		2203	4300	6503	SO:0001583	missense	0			M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.922G>A	2.37:g.85622675C>T	ENSP00000387063:p.Ala308Thr		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.A323T	ENST00000409921.1	37	c.967	CCDS58715.1	2	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792029	0.31685	.	.	ENSG00000042493	ENST00000542681;ENST00000263867;ENST00000453973;ENST00000409921;ENST00000409670;ENST00000409724	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.58	3.72	0.42706	Gelsolin domain (1);	0.167769	0.53938	D	0.000058	T	0.30510	0.0767	L	0.39898	1.24	0.33702	D	0.614673	B;B;B	0.19331	0.035;0.0;0.001	B;B;B	0.12156	0.007;0.001;0.001	T	0.37911	-0.9685	10	0.59425	D	0.04	.	5.9963	0.19495	0.1973:0.7075:0.0:0.0952	.	302;308;323	B4DU58;B8ZZS7;P40121	.;.;CAPG_HUMAN	T	302;323;78;308;323;323	ENSP00000263867:A323T;ENSP00000397381:A78T;ENSP00000387063:A308T;ENSP00000386315:A323T;ENSP00000386965:A323T	ENSP00000263867:A323T	A	-	1	0	CAPG	85476186	0.272000	0.24172	0.313000	0.25210	0.003000	0.03518	0.597000	0.24059	1.305000	0.44909	0.491000	0.48974	GCC	CAPG	-	pfam_Gelsolin_dom,smart_Villin/Gelsolin	ENSG00000042493		0.587	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	CAPG	HGNC	protein_coding	OTTHUMT00000329383.1	-	0.00	38	0	C	NM_001747		85622675	-1	tier1	-	no_errors	ENST00000263867	ensembl	human	known	74_37	missense	40.54	22	15	SNP	0.933	T
CAPN11	11131	genome.wustl.edu	37	6	44145101	44145101	+	Missense_Mutation	SNP	C	C	T	rs201179894		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:44145101C>T	ENST00000398776.1	+	12	1398	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	CAPN11_ENST00000542245.1_Missense_Mutation_p.R454W	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	454	Domain III.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAAGAACTGGCGGCATGCACG	0.612																																																	0								C	TRP/ARG	0,4202		0,0,2101	45.0	50.0	49.0		1360	-7.1	0.2	6		49	1,8493		0,1,4246	yes	missense	CAPN11	NM_007058.3	101	0,1,6347	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	454/740	44145101	1,12695	2101	4247	6348	SO:0001583	missense	0			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1360C>T	6.37:g.44145101C>T	ENSP00000381758:p.Arg454Trp		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R454W	ENST00000398776.1	37	c.1360	CCDS47436.1	6	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856331	0.91355	0.0	1.18E-4	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.90844	-2.74;-2.74	4.79	-7.13	0.01532	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.155924	0.29692	N	0.011451	D	0.94102	0.8109	H	0.95260	3.645	0.37986	D	0.933745	D;P	0.89917	1.0;0.654	D;B	0.87578	0.998;0.062	D	0.93393	0.6753	10	0.87932	D	0	.	10.7693	0.46312	0.6391:0.2396:0.0:0.1213	.	108;454	B4DT90;Q9UMQ6	.;CAN11_HUMAN	W	454	ENSP00000381758:R454W;ENSP00000441078:R454W	ENSP00000381758:R454W	R	+	1	2	CAPN11	44253079	0.991000	0.36638	0.204000	0.23530	0.872000	0.50106	0.930000	0.28858	-0.883000	0.03982	-0.215000	0.12644	CGG	CAPN11	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III	ENSG00000137225		0.612	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPN11	HGNC	protein_coding	OTTHUMT00000040714.3	-	0.00	32	0	C			44145101	+1	tier1	rs201179894	no_errors	ENST00000398776	ensembl	human	known	74_37	missense	50.00	21	21	SNP	0.635	T
CAPN6	827	genome.wustl.edu	37	X	110495579	110495579	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:110495579A>G	ENST00000324068.1	-	5	822	c.655T>C	c.(655-657)Tac>Cac	p.Y219H	CAPN6_ENST00000541758.1_Intron	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	219	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AATGTTTTGTACAGTTCTCCG	0.423																																																	0													158.0	116.0	130.0					X																	110495579		2203	4300	6503	SO:0001583	missense	0			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.655T>C	X.37:g.110495579A>G	ENSP00000317214:p.Tyr219His		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.Y219H	ENST00000324068.1	37	c.655	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	A	12.29	1.893834	0.33442	.	.	ENSG00000077274	ENST00000324068	D	0.87179	-2.22	5.97	3.52	0.40303	Peptidase C2, calpain, catalytic domain (3);	0.444283	0.25047	N	0.033549	T	0.65954	0.2741	N	0.03071	-0.42	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.55515	-0.8129	10	0.33940	T	0.23	.	2.9351	0.05811	0.4429:0.0:0.1565:0.4005	.	219	Q9Y6Q1	CAN6_HUMAN	H	219	ENSP00000317214:Y219H	ENSP00000317214:Y219H	Y	-	1	0	CAPN6	110382235	0.995000	0.38212	1.000000	0.80357	0.988000	0.76386	1.610000	0.36869	0.795000	0.33922	0.486000	0.48141	TAC	CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000077274		0.423	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	-	0.00	38	0	A			110495579	-1	tier1	-	no_errors	ENST00000324068	ensembl	human	known	74_37	missense	76.47	8	26	SNP	1.000	G
CAPZA2	830	genome.wustl.edu	37	7	116520180	116520180	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:116520180delT	ENST00000361183.3	+	2	178				CAPZA2_ENST00000458284.2_Intron|CAPZA2_ENST00000490693.1_Intron	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			AGTTGGCCAATTTTTTTTTAA	0.338																																																	0																																										SO:0001627	intron_variant	0				CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"""F-actin capping protein alpha-2 subunit"""	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.40-8001T>-	7.37:g.116520180delT			B4DG50	Frame_Shift_Del	DEL	NULL	p.L36fs	ENST00000361183.3	37	c.99	CCDS5768.1	7																																																																																			CAPZA2	-	NULL	ENSG00000198898		0.338	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA2	HGNC	protein_coding	OTTHUMT00000059506.4		0.00	20	0	T	NM_006136		116520180	+1	tier1		no_errors	ENST00000449080	ensembl	human	known	74_37	frame_shift_del	23.33	23	7	DEL	0.021	-
C19orf68	374920	genome.wustl.edu	37	19	48685631	48685633	+	Intron	DEL	AAA	AAA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:48685631_48685633delAAA	ENST00000328759.7	+	3	307				CARD8_ENST00000600800.1_5'UTR|ZNF114_ENST00000597695.1_Intron			Q86XI8	CS068_HUMAN	chromosome 19 open reading frame 68						hematopoietic progenitor cell differentiation (GO:0002244)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)											TTCTTAGTTTAAAAAAAAAAAAA	0.517																																																	0																																										SO:0001627	intron_variant	0			BC043386	CCDS74411.1	19q13.32	2008-08-06			ENSG00000185453	ENSG00000185453			34495	protein-coding gene	gene with protein product						12477932	Standard	NM_199341		Approved	LOC374920	uc002pic.3	Q86XI8		ENST00000328759.7:c.276-79AAA>-	19.37:g.48685640_48685642delAAA				RNA	DEL	-	NULL	ENST00000328759.7	37	NULL		19																																																																																			CARD8	-	-	ENSG00000105483		0.517	C19orf68-001	KNOWN	non_canonical_other|basic|appris_principal	protein_coding	CARD8	HGNC	protein_coding	OTTHUMT00000465598.1		0.00	14	0	AAA	XM_001713770		48685633	-1	tier1		no_errors	ENST00000600800	ensembl	human	known	74_37	rna	47.62	11	10	DEL	0.000:0.000:0.001	-
CARD9	64170	genome.wustl.edu	37	9	139264771	139264771	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139264771C>T	ENST00000371732.5	-	6	1091	c.926G>A	c.(925-927)cGc>cAc	p.R309H	CARD9_ENST00000371734.3_Missense_Mutation_p.R309H|CARD9_ENST00000315908.7_Missense_Mutation_p.R309H|CARD9_ENST00000460290.1_5'Flank	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	309					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CTCGCCCTGGCGGAGGTCCTT	0.706																																																	0													30.0	34.0	33.0					9																	139264771		2192	4296	6488	SO:0001583	missense	0			AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.926G>A	9.37:g.139264771C>T	ENSP00000360797:p.Arg309His		Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.R309H	ENST00000371732.5	37	c.926	CCDS6997.1	9	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729383	0.48833	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.34667	1.35;1.35;1.35	4.11	4.11	0.48088	.	0.068325	0.56097	D	0.000038	T	0.26304	0.0642	L	0.44542	1.39	0.43729	D	0.996215	B;P;P	0.37500	0.371;0.597;0.462	B;B;B	0.28849	0.095;0.082;0.037	T	0.09207	-1.0685	10	0.42905	T	0.14	-27.2027	11.1937	0.48700	0.0:0.9061:0.0:0.0939	.	205;309;309	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	H	309	ENSP00000360799:R309H;ENSP00000360797:R309H;ENSP00000323719:R309H	ENSP00000323719:R309H	R	-	2	0	CARD9	138384592	0.447000	0.25673	1.000000	0.80357	0.985000	0.73830	1.704000	0.37857	2.124000	0.65301	0.462000	0.41574	CGC	CARD9	-	NULL	ENSG00000187796		0.706	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD9	HGNC	protein_coding	OTTHUMT00000055053.1	-	0.00	51	0	C	NM_052813		139264771	-1	tier1	-	no_errors	ENST00000371732	ensembl	human	known	74_37	missense	47.06	18	16	SNP	0.997	T
CARKD	55739	genome.wustl.edu	37	13	111277612	111277612	+	Missense_Mutation	SNP	G	G	A	rs147657999	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:111277612G>A	ENST00000309957.2	+	4	387	c.373G>A	c.(373-375)Gtc>Atc	p.V125I	CARKD_ENST00000397191.4_Intron|CARKD_ENST00000458711.2_Intron|CARKD_ENST00000470164.2_Intron|CARKD_ENST00000424185.2_Intron	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing											NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						GGAGCTGATCGTCCACCCAGT	0.587													G|||	4	0.000798722	0.003	0.0	5008	,	,		18368	0.0		0.0	False		,,,				2504	0.0																0								G	ILE/VAL,ILE/VAL,,ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	72.0	61.0	65.0		373,319,,373	5.4	0.9	13	dbSNP_134	65	0,8600		0,0,4300	no	missense,missense,intron,missense	CARKD	NM_001242881.1,NM_001242882.1,NM_001242883.1,NM_018210.3	29,29,,29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	probably-damaging,probably-damaging,,probably-damaging	125/348,107/330,,125/391	111277612	4,13002	2203	4300	6503	SO:0001583	missense	0			AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.373G>A	13.37:g.111277612G>A	ENSP00000311984:p.Val125Ile			Missense_Mutation	SNP	pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel	p.V125I	ENST00000309957.2	37	c.373	CCDS9513.1	13	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987729	0.93106	9.08E-4	0.0	ENSG00000213995	ENST00000439607;ENST00000309957	T	0.27890	1.64	5.37	5.37	0.77165	Uncharacterised domain, carbohydrate kinase-related (3);	0.000000	0.85682	D	0.000000	T	0.63698	0.2533	M	0.90198	3.095	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70227	0.949;0.968;0.949	T	0.71048	-0.4705	10	0.59425	D	0.04	-31.3074	17.8949	0.88885	0.0:0.0:1.0:0.0	.	107;125;125	B4DKX7;Q8IW45-2;Q8IW45	.;.;CARKD_HUMAN	I	107;125	ENSP00000311984:V125I	ENSP00000311984:V125I	V	+	1	0	CARKD	110075613	1.000000	0.71417	0.878000	0.34440	0.919000	0.55068	8.445000	0.90326	2.513000	0.84729	0.555000	0.69702	GTC	CARKD	-	pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel	ENSG00000213995		0.587	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARKD	HGNC	protein_coding	OTTHUMT00000045764.1	-	0.00	36	0	G	NM_018210		111277612	+1	tier1	rs147657999	no_errors	ENST00000309957	ensembl	human	known	74_37	missense	60.98	16	25	SNP	1.000	A
CARM1	10498	genome.wustl.edu	37	19	11032065	11032065	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:11032065G>A	ENST00000327064.4	+	15	1820	c.1630G>A	c.(1630-1632)Gtc>Atc	p.V544I	CARM1_ENST00000344150.4_Intron	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	544	Transactivation domain. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CACGGGGATTGTCAATCACAC	0.657																																																	0													105.0	108.0	107.0					19																	11032065		2203	4300	6503	SO:0001583	missense	0			AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1630G>A	19.37:g.11032065G>A	ENSP00000325690:p.Val544Ile		A6NN38	Missense_Mutation	SNP	pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11	p.V544I	ENST00000327064.4	37	c.1630	CCDS12250.1	19	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107196	0.56291	.	.	ENSG00000142453	ENST00000327064	T	0.26660	1.72	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000008	T	0.19725	0.0474	N	0.25647	0.755	0.80722	D	1	P	0.36683	0.565	B	0.36378	0.223	T	0.04708	-1.0932	10	0.26408	T	0.33	-7.7259	16.0448	0.80714	0.0:0.0:1.0:0.0	.	544	Q86X55	CARM1_HUMAN	I	544	ENSP00000325690:V544I	ENSP00000325690:V544I	V	+	1	0	CARM1	10893065	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.749000	0.91619	2.057000	0.61298	0.557000	0.71058	GTC	CARM1	-	NULL	ENSG00000142453		0.657	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CARM1	HGNC	protein_coding	OTTHUMT00000452625.1	-	0.00	84	0	G	XM_032719		11032065	+1	tier1	-	no_errors	ENST00000327064	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	A
CARNS1	57571	genome.wustl.edu	37	11	67185908	67185908	+	5'UTR	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:67185908C>A	ENST00000307823.3	+	0	364				CARNS1_ENST00000423745.2_5'UTR|CARNS1_ENST00000531040.1_Missense_Mutation_p.P94H|CARNS1_ENST00000445895.2_Missense_Mutation_p.P94H	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1						ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CGAGGCTGTCCTGGGGCGGAG	0.657																																																	0													86.0	83.0	84.0					11																	67185908		692	1591	2283	SO:0001623	5_prime_UTR_variant	0				CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"""ATP-grasp domain containing 1"""	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.-89C>A	11.37:g.67185908C>A			A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp	p.P94H	ENST00000307823.3	37	c.281	CCDS44658.1	11	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639265	0.67244	.	.	ENSG00000172508	ENST00000531040;ENST00000542831;ENST00000539452;ENST00000445895	T;T	0.46063	0.88;0.91	4.1	4.1	0.47936	.	.	.	.	.	T	0.48786	0.1519	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.971	T	0.53592	-0.8417	9	0.66056	D	0.02	.	13.8593	0.63550	0.0:1.0:0.0:0.0	.	94;110	F5H427;A5YM72-3	.;.	H	94;94;110;94	ENSP00000431670:P94H;ENSP00000389009:P94H	ENSP00000389009:P94H	P	+	2	0	CARNS1	66942484	0.667000	0.27484	1.000000	0.80357	0.969000	0.65631	1.940000	0.40223	2.130000	0.65690	0.561000	0.74099	CCT	CARNS1	-	superfamily_TIL_dom	ENSG00000172508		0.657	CARNS1-001	KNOWN	basic|CCDS	protein_coding	CARNS1	HGNC	protein_coding	OTTHUMT00000395501.1	-	0.00	109	0	C	NM_020811		67185908	+1	tier1	-	no_errors	ENST00000445895	ensembl	human	known	74_37	missense	38.68	65	41	SNP	1.000	A
CASP16	197350	genome.wustl.edu	37	16	3194815	3194815	+	5'UTR	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:3194815G>A	ENST00000428155.1	+	0	349				CASP16_ENST00000571356.1_3'UTR			P0CB46	CASPG_HUMAN	caspase 16, apoptosis-related cysteine peptidase (putative)						extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)	cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)										CTGGTCCCTGGTGCAGCTGCT	0.672																																																	0																																										SO:0001623	5_prime_UTR_variant	0					16p13.3	2014-04-01			ENSG00000228146	ENSG00000228146			27290	protein-coding gene	gene with protein product						18281271	Standard	XM_003403459		Approved		uc002cuf.1	P0CB46	OTTHUMG00000177520	ENST00000428155.1:c.-378G>A	16.37:g.3194815G>A				RNA	SNP	-	NULL	ENST00000428155.1	37	NULL		16																																																																																			CASP16	-	-	ENSG00000228146		0.672	CASP16-001	KNOWN	basic|appris_principal	protein_coding	CASP16	HGNC	protein_coding	OTTHUMT00000437342.1	-	0.00	54	0	G	XM_003403459		3194815	+1	tier1	-	no_errors	ENST00000571356	ensembl	human	known	74_37	rna	38.46	40	25	SNP	0.958	A
CASP5	838	genome.wustl.edu	37	11	104868169	104868169	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:104868169G>T	ENST00000260315.3	-	8	1146	c.1147C>A	c.(1147-1149)Ctc>Atc	p.L383I	CASP5_ENST00000393141.2_Missense_Mutation_p.L396I|CASP5_ENST00000526056.1_Missense_Mutation_p.L396I|CASP5_ENST00000444749.2_Missense_Mutation_p.L325I|CASP5_ENST00000531367.1_Missense_Mutation_p.L241I|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000418434.1_Missense_Mutation_p.L241I			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	383					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CATGTGATGAGTTCCGTAATG	0.428																																																	0													114.0	105.0	108.0					11																	104868169		2202	4299	6501	SO:0001583	missense	0				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.1147C>A	11.37:g.104868169G>T	ENSP00000260315:p.Leu383Ile		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.L396I	ENST00000260315.3	37	c.1186	CCDS8328.2	11	.	.	.	.	.	.	.	.	.	.	G	13.89	2.371341	0.42003	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7	3.6	2.58	0.30949	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.365237	0.24388	N	0.038941	T	0.31765	0.0807	M	0.83774	2.66	0.30622	N	0.758344	P;P;P;P	0.50617	0.718;0.937;0.814;0.937	P;P;P;P	0.60415	0.67;0.836;0.843;0.874	T	0.14531	-1.0469	10	0.59425	D	0.04	.	8.295	0.31980	0.0:0.245:0.755:0.0	.	241;325;383;396	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	I	396;241;383;325;396;241	ENSP00000376849:L396I;ENSP00000398130:L241I;ENSP00000260315:L383I;ENSP00000388365:L325I;ENSP00000436877:L396I;ENSP00000434471:L241I	ENSP00000260315:L383I	L	-	1	0	CASP5	104373379	0.970000	0.33590	0.263000	0.24496	0.028000	0.11728	2.488000	0.45276	2.005000	0.58758	0.514000	0.50259	CTC	CASP5	-	pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_p10	ENSG00000137757		0.428	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2	-	0.00	70	0	G	NM_004347		104868169	-1	tier1	-	no_errors	ENST00000393141	ensembl	human	known	74_37	missense	5.38	88	5	SNP	0.416	T
CASZ1	54897	genome.wustl.edu	37	1	10715751	10715751	+	Silent	SNP	G	G	A	rs575650869		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:10715751G>A	ENST00000377022.3	-	9	1937	c.1620C>T	c.(1618-1620)caC>caT	p.H540H	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.H540H	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	540					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTGGCAGCCGTGGTAGTAGA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		19641	0.0		0.0	False		,,,				2504	0.001																0													144.0	104.0	117.0					1																	10715751		2203	4300	6503	SO:0001819	synonymous_variant	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1620C>T	1.37:g.10715751G>A			Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H540	ENST00000377022.3	37	c.1620	CCDS41246.1	1																																																																																			CASZ1	-	NULL	ENSG00000130940		0.637	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	-	0.00	69	0	G	NM_017766		10715751	-1	tier1	-	no_errors	ENST00000377022	ensembl	human	known	74_37	silent	33.33	36	18	SNP	0.982	A
CATSPER1	117144	genome.wustl.edu	37	11	65793344	65793344	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:65793344G>A	ENST00000312106.5	-	1	644	c.507C>T	c.(505-507)caC>caT	p.H169H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	169	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AAGCCTCACCGTGGTGGGGCA	0.582																																																	0													56.0	53.0	54.0					11																	65793344		2201	4296	6497	SO:0001819	synonymous_variant	0			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.507C>T	11.37:g.65793344G>A			Q96P76	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.H169	ENST00000312106.5	37	c.507	CCDS8127.1	11																																																																																			CATSPER1	-	NULL	ENSG00000175294		0.582	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	HGNC	protein_coding	OTTHUMT00000391055.1	-	0.00	59	0	G	NM_053054		65793344	-1	tier1	-	no_errors	ENST00000312106	ensembl	human	known	74_37	silent	36.36	28	16	SNP	0.000	A
CBLC	23624	genome.wustl.edu	37	19	45295733	45295733	+	Missense_Mutation	SNP	G	G	A	rs377703099	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:45295733G>A	ENST00000270279.3	+	7	1162	c.1099G>A	c.(1099-1101)Ggg>Agg	p.G367R	CBLC_ENST00000341505.4_Missense_Mutation_p.G321R	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	367	Interaction with RET.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TGAGCCGTGCGGGCACCTGCT	0.617			M		AML								G|||	3	0.000599042	0.0023	0.0	5008	,	,		18020	0.0		0.0	False		,,,				2504	0.0							Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0								G	ARG/GLY,ARG/GLY	2,4404		0,2,2201	77.0	71.0	73.0		961,1099	4.0	0.6	19		73	0,8600		0,0,4300	no	missense,missense	CBLC	NM_001130852.1,NM_012116.3	125,125	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	321/429,367/475	45295733	2,13004	2203	4300	6503	SO:0001583	missense	0			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.1099G>A	19.37:g.45295733G>A	ENSP00000270279:p.Gly367Arg		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING	p.G367R	ENST00000270279.3	37	c.1099	CCDS12643.1	19	.	.	.	.	.	.	.	.	.	.	.	12.20	1.866817	0.32977	4.54E-4	0.0	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.97772	-4.53;-4.53	4.0	4.0	0.46444	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.42420	D	0.000715	D	0.97554	0.9199	M	0.67569	2.06	0.58432	D	0.999998	D;D	0.71674	0.993;0.998	P;P	0.54060	0.741;0.633	D	0.97860	1.0280	10	0.87932	D	0	-31.6355	13.9959	0.64402	0.0:0.0:1.0:0.0	.	321;367	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	R	367;321	ENSP00000270279:G367R;ENSP00000340250:G321R	ENSP00000270279:G367R	G	+	1	0	CBLC	49987573	1.000000	0.71417	0.643000	0.29450	0.008000	0.06430	5.351000	0.66022	2.256000	0.74724	0.551000	0.68910	GGG	CBLC	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000142273		0.617	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLC	HGNC	protein_coding	OTTHUMT00000319732.2	-	0.00	41	0	G	NM_012116		45295733	+1	tier1	-	no_errors	ENST00000270279	ensembl	human	known	74_37	missense	42.86	16	12	SNP	0.996	A
CBR3	874	genome.wustl.edu	37	21	37504209	37504210	+	IGR	INS	-	-	AAAT	rs370019892|rs34772963|rs369958192	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:37504209_37504210insAAAT	ENST00000290354.5	+	0	0				CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000608632.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3						cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	TACACAACTCAaaataaataaa	0.243														4461	0.890775	0.9849	0.8242	5008	,	,		9529	0.8403		0.8857	False		,,,				2504	0.8681																0																																										SO:0001628	intergenic_variant	0			AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1549	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 2"""	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617		21.37:g.37504214_37504217dupAAAT			Q6FHP2	RNA	INS	-	NULL	ENST00000290354.5	37	NULL	CCDS13642.1	21																																																																																			CBR3-AS1	-	-	ENSG00000236830		0.243	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBR3-AS1	HGNC	protein_coding	OTTHUMT00000194632.1		0.00	10	0	0			37504210	-1			no_errors	ENST00000413862	ensembl	human	known	74_37	rna	25.00	6	2	INS	0.997:0.993	AAAT
CBWD6	644019	genome.wustl.edu	37	9	69218744	69218744	+	Intron	SNP	T	T	A	rs529073911	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:69218744T>A	ENST00000377457.5	-	11	870				CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Intron|CBWD6_ENST00000468061.1_Intron	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6								ATP binding (GO:0005524)			lung(4)	4						TAAGTTTTTTTAAAATTTCTT	0.259													.|||	3	0.000599042	0.0	0.0014	5008	,	,		13737	0.0		0.002	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0				CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.765-183A>T	9.37:g.69218744T>A				RNA	SNP	-	NULL	ENST00000377457.5	37	NULL	CCDS43827.1	9																																																																																			CBWD6	-	-	ENSG00000204790		0.259	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	CBWD6	HGNC	protein_coding	OTTHUMT00000143172.2	-	0.00	30	0	T	XM_928822		69218744	-1	tier1	-	no_errors	ENST00000477430	ensembl	human	known	74_37	rna	13.16	66	10	SNP	0.005	A
CBWD6	644019	genome.wustl.edu	37	9	69218755	69218755	+	Intron	SNP	A	A	T	rs550565529	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:69218755A>T	ENST00000377457.5	-	11	870				CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Intron|CBWD6_ENST00000468061.1_Intron	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6								ATP binding (GO:0005524)			lung(4)	4						AAAATTTCTTAAAAAAAAACA	0.254													.|||	2	0.000399361	0.0	0.0014	5008	,	,		13521	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0				CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.765-194T>A	9.37:g.69218755A>T				RNA	SNP	-	NULL	ENST00000377457.5	37	NULL	CCDS43827.1	9																																																																																			CBWD6	-	-	ENSG00000204790		0.254	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	CBWD6	HGNC	protein_coding	OTTHUMT00000143172.2	-	0.00	33	0	A	XM_928822		69218755	-1	tier1	-	no_errors	ENST00000477430	ensembl	human	known	74_37	rna	13.33	65	10	SNP	0.000	T
CBWD6	644019	genome.wustl.edu	37	9	69218762	69218763	+	Intron	DNP	AA	AA	CC	rs530762029|rs569140013	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:69218762_69218763AA>CC	ENST00000377457.5	-	11	870				CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Intron|CBWD6_ENST00000468061.1_Intron	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6								ATP binding (GO:0005524)			lung(4)	4						CTTAAAAAAAAACACACATTCA	0.257																																																	0																																										SO:0001627	intron_variant	0				CCDS43827.1	9q13	2006-06-30			ENSG00000204790	ENSG00000204790			31978	protein-coding gene	gene with protein product							Standard	NM_001085457		Approved	OTTHUMG00000066820	uc004afj.4	Q4V339	OTTHUMG00000066820	ENST00000377457.5:c.765_765delinsCC	9.37:g.69218762_69218763delinsCC				RNA	SNP	-	NULL	ENST00000377457.5	37	NULL	CCDS43827.1	9																																																																																			CBWD6	-	-	ENSG00000204790		0.257	CBWD6-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	CBWD6	HGNC	protein_coding	OTTHUMT00000143172.2	-	0.00	33	0	A	XM_928822		69218762|69218763	-1	tier1	-	no_errors	ENST00000477430	ensembl	human	known	74_37	rna	22.67|33.33	58|50	17|25	SNP	0.000|0.002	C
CBX6	23466	genome.wustl.edu	37	22	39263028	39263028	+	Frame_Shift_Del	DEL	C	C	-	rs377721533		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:39263028delC	ENST00000407418.3	-	5	548	c.425delG	c.(424-426)ggcfs	p.G142fs	CBX6_ENST00000216083.6_Frame_Shift_Del_p.G124fs			O95503	CBX6_HUMAN	chromobox homolog 6	142					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					TCCGGGGCTGCCCCCCTGCGG	0.701																																																	0													8.0	9.0	8.0					22																	39263028		2068	4089	6157	SO:0001589	frameshift_variant	0				CCDS13980.1	22q13.1	2013-04-23			ENSG00000183741	ENSG00000183741			1556	protein-coding gene	gene with protein product							Standard	NM_014292		Approved		uc003awl.3	O95503	OTTHUMG00000150456	ENST00000407418.3:c.425delG	22.37:g.39263028delC	ENSP00000384490:p.Gly142fs		A8KAH0|Q96EM5	Frame_Shift_Del	DEL	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.G142fs	ENST00000407418.3	37	c.425	CCDS13980.1	22																																																																																			CBX6	-	NULL	ENSG00000183741		0.701	CBX6-001	KNOWN	basic|CCDS	protein_coding	CBX6	HGNC	protein_coding	OTTHUMT00000318190.1		0.00	33	0	C	NM_014292		39263028	-1	tier1		no_errors	ENST00000407418	ensembl	human	known	74_37	frame_shift_del	38.46	16	10	DEL	1.000	-
CBX8	57332	genome.wustl.edu	37	17	77768661	77768662	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:77768661_77768662insG	ENST00000269385.4	-	5	1059_1060	c.942_943insC	c.(940-945)cccagcfs	p.S315fs	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	315					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)	p.S315fs*43(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCCCCAGAGCTGGGGGGGCCTG	0.693																																																	1	Insertion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.943dupC	17.37:g.77768668_77768668dupG	ENSP00000269385:p.Ser315fs		Q96H39|Q9NR07	Frame_Shift_Ins	INS	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.S314fs	ENST00000269385.4	37	c.943_942	CCDS11765.1	17																																																																																			CBX8	-	NULL	ENSG00000141570		0.693	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX8	HGNC	protein_coding	OTTHUMT00000318011.1		0.00	22	0	-	NM_020649		77768662	-1	tier1		no_errors	ENST00000269385	ensembl	human	known	74_37	frame_shift_ins	18.18	9	2	INS	0.052:0.011	G
CBX8	57332	genome.wustl.edu	37	17	77768912	77768912	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:77768912A>G	ENST00000269385.4	-	5	809	c.692T>C	c.(691-693)cTg>cCg	p.L231P	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	231					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGTGTCGTCCAGCTTCCTGCC	0.662																																																	0													29.0	29.0	29.0					17																	77768912		2203	4300	6503	SO:0001583	missense	0			AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.692T>C	17.37:g.77768912A>G	ENSP00000269385:p.Leu231Pro		Q96H39|Q9NR07	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.L231P	ENST00000269385.4	37	c.692	CCDS11765.1	17	.	.	.	.	.	.	.	.	.	.	a	11.67	1.708453	0.30322	.	.	ENSG00000141570	ENST00000269385;ENST00000427800;ENST00000413392	T	0.47528	0.84	4.87	4.87	0.63330	.	1.161370	0.06380	N	0.715021	T	0.33962	0.0881	N	0.22421	0.69	0.50039	D	0.999849	P	0.39624	0.681	B	0.34536	0.185	T	0.04752	-1.0929	10	0.30854	T	0.27	-6.0904	9.3958	0.38401	0.9194:0.0:0.0806:0.0	.	231	Q9HC52	CBX8_HUMAN	P	231;206;221	ENSP00000269385:L231P	ENSP00000269385:L231P	L	-	2	0	CBX8	75383507	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.104000	0.57790	1.967000	0.57214	0.370000	0.22315	CTG	CBX8	-	NULL	ENSG00000141570		0.662	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX8	HGNC	protein_coding	OTTHUMT00000318011.1	-	0.00	47	0	A	NM_020649		77768912	-1	tier1	-	no_errors	ENST00000269385	ensembl	human	known	74_37	missense	45.16	17	14	SNP	0.990	G
CCDC105	126402	genome.wustl.edu	37	19	15122081	15122081	+	Silent	SNP	C	C	T	rs537607141		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:15122081C>T	ENST00000292574.3	+	1	526	c.444C>T	c.(442-444)aaC>aaT	p.N148N	SLC1A6_ENST00000430939.2_5'Flank	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	148						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						ACCAGATTAACGGGCGGGTGC	0.701																																																	0													4.0	5.0	5.0					19																	15122081		1873	4020	5893	SO:0001819	synonymous_variant	0			AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.444C>T	19.37:g.15122081C>T			Q8N7T5|Q8NDL5	Silent	SNP	pfam_Tektin	p.N148	ENST00000292574.3	37	c.444	CCDS12322.1	19																																																																																			CCDC105	-	pfam_Tektin	ENSG00000160994		0.701	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC105	HGNC	protein_coding	OTTHUMT00000466293.1		0.00	17	0	C	NM_173482		15122081	+1			no_errors	ENST00000292574	ensembl	human	known	74_37	silent	22.73	17	5	SNP	0.046	T
CCDC13	152206	genome.wustl.edu	37	3	42799707	42799707	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:42799707G>T	ENST00000310232.6	-	2	214	c.131C>A	c.(130-132)gCt>gAt	p.A44D	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	44										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTGGTCGTCAGCTCTGCTTTT	0.498																																																	0													242.0	198.0	213.0					3																	42799707		2203	4300	6503	SO:0001583	missense	0			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.131C>A	3.37:g.42799707G>T	ENSP00000309836:p.Ala44Asp			Missense_Mutation	SNP	superfamily_Prefoldin	p.A44D	ENST00000310232.6	37	c.131	CCDS2705.1	3	.	.	.	.	.	.	.	.	.	.	G	4.123	0.021030	0.08006	.	.	ENSG00000244607	ENST00000310232	T	0.23147	1.92	4.59	-9.18	0.00688	.	1.528080	0.03501	N	0.218074	T	0.16171	0.0389	L	0.44542	1.39	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.10450	0.005;0.005;0.005	T	0.13442	-1.0509	10	0.34782	T	0.22	.	2.4483	0.04511	0.1727:0.3175:0.3454:0.1644	.	44;44;44	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	D	44	ENSP00000309836:A44D	ENSP00000309836:A44D	A	-	2	0	CCDC13	42774711	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.389000	0.00488	-2.109000	0.00838	-0.882000	0.02950	GCT	CCDC13	-	NULL	ENSG00000244607		0.498	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1	-	0.00	147	0	G	NM_144719		42799707	-1	tier1	-	no_errors	ENST00000310232	ensembl	human	known	74_37	missense	5.65	117	7	SNP	0.000	T
CCDC136	64753	genome.wustl.edu	37	7	128455793	128455794	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:128455793_128455794delGT	ENST00000297788.4	+	16	3538_3539	c.3171_3172delGT	c.(3169-3174)cagtgtfs	p.C1058fs	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000471729.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1058	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						caaaggagcagTGTGGGGATGA	0.47																																																	0																																										SO:0001589	frameshift_variant	0				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3171_3172delGT	7.37:g.128455795_128455796delGT	ENSP00000297788:p.Cys1058fs		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Frame_Shift_Del	DEL	NULL	p.C1058fs	ENST00000297788.4	37	c.3171_3172	CCDS47704.1	7																																																																																			CCDC136	-	NULL	ENSG00000128596		0.470	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	HGNC	protein_coding	OTTHUMT00000350641.1		0.00	45	0	GT	NM_022742		128455794	+1	tier1		no_errors	ENST00000297788	ensembl	human	known	74_37	frame_shift_del	32.50	27	13	DEL	0.000:0.000	-
CCDC142	84865	genome.wustl.edu	37	2	74709916	74709916	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:74709916G>A	ENST00000393965.3	-	1	445	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	TTC31_ENST00000233623.5_5'Flank|CCDC142_ENST00000471713.1_Intron|CCDC142_ENST00000290418.4_Missense_Mutation_p.P17S|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000442235.2_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	17										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CTCAGCGGGGGCACGATAACG	0.672																																																	0													37.0	43.0	41.0					2																	74709916		2173	4250	6423	SO:0001583	missense	0			AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.49C>T	2.37:g.74709916G>A	ENSP00000377537:p.Pro17Ser		B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	NULL	p.P17S	ENST00000393965.3	37	c.49		2	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798137	0.31777	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.09073	3.02;3.02	3.98	-1.35	0.09114	.	0.676335	0.12931	N	0.427378	T	0.05090	0.0136	L	0.34521	1.04	0.09310	N	1	B;B;B	0.19331	0.035;0.035;0.035	B;B;B	0.15484	0.013;0.013;0.013	T	0.41124	-0.9526	9	.	.	.	-2.8741	4.1841	0.10390	0.4573:0.1772:0.3655:0.0	.	17;17;17	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	S	17	ENSP00000377537:P17S;ENSP00000290418:P17S	.	P	-	1	0	CCDC142	74563424	0.027000	0.19231	0.001000	0.08648	0.000000	0.00434	0.201000	0.17276	-0.285000	0.09089	-0.345000	0.07892	CCC	CCDC142	-	NULL	ENSG00000135637		0.672	CCDC142-003	KNOWN	basic	protein_coding	CCDC142	HGNC	protein_coding	OTTHUMT00000328391.1	-	0.00	36	0	G	NM_032779		74709916	-1	tier1	-	no_errors	ENST00000393965	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.001	A
CCDC144CP	348254	genome.wustl.edu	37	17	18528581	18528581	+	IGR	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:18528581G>A								CCDC144B (18877 upstream) : TBC1D28 (9737 downstream)																							GCTTGCTCTCGCTGCCGACGC	0.647																																																	0													54.0	64.0	61.0					17																	18528581		2203	4300	6503	SO:0001628	intergenic_variant	0																															17.37:g.18528581G>A				RNA	SNP	-	NULL		37	NULL		17																																																																																			CCDC144B	-	-	ENSG00000154874	0	0.647					CCDC144B	HGNC			-	0.00	73	0	G			18528581	-1	tier1	-	no_errors	ENST00000450277	ensembl	human	known	74_37	rna	44.44	30	24	SNP	0.052	A
CCDC150	284992	genome.wustl.edu	37	2	197584490	197584491	+	Intron	DEL	AA	AA	-	rs368182383	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:197584490_197584491delAA	ENST00000389175.4	+	19	2300				CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000409270.1_Intron|CCDC150_ENST00000487663.1_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150											breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTCCTTTACAAAAAAAAAAAT	0.297																																																	0																																										SO:0001627	intron_variant	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.2165+100AA>-	2.37:g.197584498_197584499delAA			Q6P5U6|Q6P663|Q8N8V5	RNA	DEL	-	NULL	ENST00000389175.4	37	NULL	CCDS46478.1	2																																																																																			CCDC150	-	-	ENSG00000144395		0.297	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2		0.00	27	0	AA	NM_001080539		197584491	+1	tier1		no_errors	ENST00000461825	ensembl	human	putative	74_37	rna	61.90	16	26	DEL	0.000:0.000	-
CCDC169	728591	genome.wustl.edu	37	13	36857616	36857616	+	Missense_Mutation	SNP	C	C	T	rs537970783		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:36857616C>T	ENST00000239859.7	-	4	336	c.305G>A	c.(304-306)cGa>cAa	p.R102Q	CCDC169_ENST00000379864.2_5'UTR|CCDC169_ENST00000510088.1_5'UTR|CCDC169_ENST00000477250.1_5'UTR|CCDC169_ENST00000491049.2_5'UTR|CCDC169_ENST00000503173.1_Missense_Mutation_p.R102Q|CCDC169-SOHLH2_ENST00000511166.1_Intron|CCDC169_ENST00000239860.6_Intron|CCDC169_ENST00000379862.2_5'UTR|SOHLH2_ENST00000554962.1_Intron			A6NNP5	CC169_HUMAN	coiled-coil domain containing 169	102										breast(1)|endometrium(1)	2						CACTGGCATTCGTTCATAGAC	0.284																																																	0													180.0	163.0	168.0					13																	36857616		692	1590	2282	SO:0001583	missense	0				CCDS45027.1, CCDS45028.1, CCDS45029.1, CCDS53863.1, CCDS55897.1	13q13.3	2011-08-09	2011-08-09	2011-08-09	ENSG00000242715	ENSG00000242715			34361	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 38"""	C13orf38			Standard	NM_001144981		Approved	RP11-251J8.1, LOC728591		A6NNP5	OTTHUMG00000016731	ENST00000239859.7:c.305G>A	13.37:g.36857616C>T	ENSP00000239859:p.Arg102Gln		A6NC13|A6NCT2|B7ZW45|B7ZW49|B9EJF2|Q9H1T4|Q9H1T5	Missense_Mutation	SNP	NULL	p.R102Q	ENST00000239859.7	37	c.305	CCDS45028.1	13	.	.	.	.	.	.	.	.	.	.	C	2.745	-0.261313	0.05791	.	.	ENSG00000242715	ENST00000503173;ENST00000239859	T;T	0.41065	1.01;1.01	4.52	-4.45	0.03546	.	.	.	.	.	T	0.17066	0.0410	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.23891	0.024;0.03;0.093	B;B;B	0.12837	0.003;0.008;0.005	T	0.33854	-0.9852	9	0.07325	T	0.83	.	15.8526	0.78943	0.0:0.1873:0.0:0.8127	.	102;102;102	A6NNP5-4;A6NNP5;A6NNP5-2	.;CC169_HUMAN;.	Q	102	ENSP00000426174:R102Q;ENSP00000239859:R102Q	ENSP00000239859:R102Q	R	-	2	0	CCDC169	35755616	0.003000	0.15002	0.008000	0.14137	0.969000	0.65631	-0.471000	0.06631	-1.608000	0.01587	-0.982000	0.02568	CGA	CCDC169	-	NULL	ENSG00000242715		0.284	CCDC169-014	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC169	HGNC	protein_coding	OTTHUMT00000368255.1	-	0.00	67	0	C	NM_001144981		36857616	-1	tier1	-	no_errors	ENST00000239859	ensembl	human	known	74_37	missense	12.24	86	12	SNP	0.002	T
CFAP45	25790	genome.wustl.edu	37	1	159863013	159863013	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:159863013G>A	ENST00000368099.4	-	2	150	c.86C>T	c.(85-87)gCc>gTc	p.A29V	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			AGAGCTCACGGCTTTGGTCCG	0.522																																																	0													142.0	138.0	139.0					1																	159863013		2203	4300	6503	SO:0001583	missense	0																														ENST00000368099.4:c.86C>T	1.37:g.159863013G>A	ENSP00000357079:p.Ala29Val			Missense_Mutation	SNP	NULL	p.A29V	ENST00000368099.4	37	c.86	CCDS30914.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363436	0.82353	.	.	ENSG00000213085	ENST00000368099	T	0.53640	0.61	5.94	5.94	0.96194	.	0.136906	0.47093	D	0.000241	T	0.56187	0.1968	M	0.64997	1.995	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.63381	0.914;0.914	T	0.52968	-0.8504	9	.	.	.	-12.9359	15.8595	0.79012	0.0:0.0:1.0:0.0	.	29;29	A8K884;Q9UL16	.;CCD19_HUMAN	V	29	ENSP00000357079:A29V	.	A	-	2	0	CCDC19	158129637	1.000000	0.71417	0.970000	0.41538	0.714000	0.41099	4.213000	0.58520	2.816000	0.96949	0.563000	0.77884	GCC	CCDC19	-	NULL	ENSG00000213085		0.522	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC19	HGNC	protein_coding	OTTHUMT00000085979.1	-	0.00	69	0	G			159863013	-1	tier1	-	no_errors	ENST00000368099	ensembl	human	known	74_37	missense	35.19	70	38	SNP	0.988	A
CCDC3	83643	genome.wustl.edu	37	10	12940451	12940451	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:12940451G>A	ENST00000378825.3	-	3	904	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	CCDC3_ENST00000378839.1_Missense_Mutation_p.R135W	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	260						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			ACGGGCCCCCGGGCATTGATG	0.672																																																	0													18.0	21.0	20.0					10																	12940451		2164	4240	6404	SO:0001583	missense	0			BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.778C>T	10.37:g.12940451G>A	ENSP00000368102:p.Arg260Trp		Q5VYV8|Q5VYV9	Missense_Mutation	SNP	NULL	p.R260W	ENST00000378825.3	37	c.778	CCDS7093.1	10	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384438	0.25031	.	.	ENSG00000151468	ENST00000378839;ENST00000378825	.	.	.	5.42	3.55	0.40652	.	0.645264	0.15034	N	0.284289	T	0.17789	0.0427	N	0.08118	0	0.22779	N	0.998744	B	0.17268	0.021	B	0.11329	0.006	T	0.15521	-1.0434	9	0.51188	T	0.08	-0.7918	5.3493	0.16026	0.1848:0.1692:0.6459:0.0	.	260	Q9BQI4	CCDC3_HUMAN	W	135;260	.	ENSP00000368102:R260W	R	-	1	2	CCDC3	12980457	0.802000	0.28943	0.010000	0.14722	0.010000	0.07245	1.147000	0.31602	0.657000	0.30906	-0.304000	0.09214	CGG	CCDC3	-	NULL	ENSG00000151468		0.672	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC3	HGNC	protein_coding	OTTHUMT00000046829.1		0.00	12	0	G	NM_031455		12940451	-1			no_errors	ENST00000378825	ensembl	human	known	74_37	missense	33.33	8	4	SNP	0.615	A
CCDC30	728621	genome.wustl.edu	37	1	42948563	42948564	+	Intron	DEL	AA	AA	-	rs202122677	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:42948563_42948564delAA	ENST00000428554.2	+	4	746				CCDC30_ENST00000475614.2_3'UTR			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30							extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GGAACATGAGAAAAAAAAAAAA	0.366																																																	0																																										SO:0001627	intron_variant	0			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000428554.2:c.-398+76AA>-	1.37:g.42948573_42948574delAA			Q14F06|Q5VVM5	RNA	DEL	-	NULL	ENST00000428554.2	37	NULL	CCDS30690.1	1																																																																																			CCDC30	-	-	ENSG00000186409		0.366	CCDC30-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding			0.00	30	0	AA	NM_025030		42948564	+1	tier1		no_errors	ENST00000475614	ensembl	human	known	74_37	rna	70.83	7	17	DEL	0.003:0.003	-
CCDC33	80125	genome.wustl.edu	37	15	74573101	74573101	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:74573101delA	ENST00000398814.3	+	9	1413	c.982delA	c.(982-984)aaafs	p.K328fs	CCDC33_ENST00000321288.5_Frame_Shift_Del_p.K531fs	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	531	C2.							p.K328E(1)|p.K531E(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTGACAGGGAAAGGCTTGGA	0.642																																																	2	Substitution - Missense(2)	lung(2)											74.0	83.0	80.0					15																	74573101		1956	4150	6106	SO:0001589	frameshift_variant	0			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.982delA	15.37:g.74573101delA	ENSP00000381795:p.Lys328fs		A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Frame_Shift_Del	DEL	pfam_C2_dom,superfamily_C2_dom	p.G532fs	ENST00000398814.3	37	c.1591	CCDS42058.1	15																																																																																			CCDC33	-	NULL	ENSG00000140481		0.642	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000419491.2		0.00	61	0	A	NM_182791		74573101	+1	tier1		no_errors	ENST00000321288	ensembl	human	known	74_37	frame_shift_del	26.98	46	17	DEL	0.120	-
CYP11A1	1583	genome.wustl.edu	37	15	74627334	74627334	+	IGR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:74627334C>T	ENST00000268053.6	-	0	1934				CCDC33_ENST00000321288.5_Missense_Mutation_p.R919C|CCDC33_ENST00000268082.4_Missense_Mutation_p.R309C|CCDC33_ENST00000398814.3_Missense_Mutation_p.R682C|CCDC33_ENST00000558821.1_Missense_Mutation_p.R275C	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	CTCAGCTCGACGCTGGGGACG	0.577																																					Esophageal Squamous(87;818 1337 4093 9268 37314)												0													87.0	93.0	91.0					15																	74627334		2038	4183	6221	SO:0001628	intergenic_variant	0			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716		15.37:g.74627334C>T			A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom	p.R919C	ENST00000268053.6	37	c.2755	CCDS32291.1	15	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934499	0.73442	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.38722	1.12;2.11;1.79;1.77	4.92	4.92	0.64577	.	0.242758	0.35525	N	0.003141	T	0.60495	0.2273	M	0.69823	2.125	0.43145	D	0.994903	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;P;P	0.65773	0.938;0.938;0.869;0.862	T	0.64841	-0.6312	10	0.66056	D	0.02	.	12.6464	0.56738	0.1662:0.8338:0.0:0.0	.	275;309;919;682	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	C	919;682;275;309	ENSP00000325012:R919C;ENSP00000381795:R682C;ENSP00000325661:R275C;ENSP00000268082:R309C	ENSP00000268082:R309C	R	+	1	0	CCDC33	72414387	0.005000	0.15991	0.997000	0.53966	0.980000	0.70556	1.495000	0.35627	2.274000	0.75844	0.478000	0.44815	CGC	CCDC33	-	NULL	ENSG00000140481		0.577	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000319737.1	-	0.00	76	0	C			74627334	+1	tier1	-	no_errors	ENST00000321288	ensembl	human	known	74_37	missense	32.76	39	19	SNP	0.993	T
CCDC43	124808	genome.wustl.edu	37	17	42756253	42756253	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:42756253delT	ENST00000315286.8	-	5	654	c.646delA	c.(646-648)aggfs	p.R216fs	CCDC43_ENST00000588210.1_Frame_Shift_Del_p.R219fs|RP11-1072C15.4_ENST00000591628.1_RNA|CCDC43_ENST00000457422.2_3'UTR|C17orf104_ENST00000588805.1_Intron	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	216										lung(2)	2		Prostate(33;0.0322)				CTCTGTGTCCTTTTTTTTTCC	0.463																																																	0													93.0	95.0	94.0					17																	42756253		1934	4131	6065	SO:0001589	frameshift_variant	0			AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.646delA	17.37:g.42756253delT	ENSP00000323782:p.Arg216fs		C9JVK9	Frame_Shift_Del	DEL	NULL	p.R216fs	ENST00000315286.8	37	c.646	CCDS45704.1	17																																																																																			CCDC43	-	NULL	ENSG00000180329		0.463	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CCDC43	HGNC	protein_coding	OTTHUMT00000457812.1		0.00	83	0	T	NM_144609		42756253	-1	tier1		no_errors	ENST00000315286	ensembl	human	known	74_37	frame_shift_del	24.62	49	16	DEL	1.000	-
CCDC43	124808	genome.wustl.edu	37	17	42756261	42756261	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:42756261T>C	ENST00000315286.8	-	5	646	c.638A>G	c.(637-639)gAa>gGa	p.E213G	CCDC43_ENST00000588210.1_Missense_Mutation_p.E216G|RP11-1072C15.4_ENST00000591628.1_RNA|CCDC43_ENST00000457422.2_3'UTR|C17orf104_ENST00000588805.1_Intron	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	213										lung(2)	2		Prostate(33;0.0322)				CCTTTTTTTTTCCTTTTCCTT	0.478																																																	0													94.0	96.0	95.0					17																	42756261		1938	4136	6074	SO:0001583	missense	0			AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.638A>G	17.37:g.42756261T>C	ENSP00000323782:p.Glu213Gly		C9JVK9	Missense_Mutation	SNP	NULL	p.E213G	ENST00000315286.8	37	c.638	CCDS45704.1	17	.	.	.	.	.	.	.	.	.	.	T	20.8	4.056025	0.76074	.	.	ENSG00000180329	ENST00000315286	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.80565	0.4647	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82975	-0.0190	9	0.87932	D	0	-17.3138	15.7887	0.78332	0.0:0.0:0.0:1.0	.	213	Q96MW1	CCD43_HUMAN	G	213	.	ENSP00000323782:E213G	E	-	2	0	CCDC43	40111787	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.097000	0.76967	2.367000	0.80283	0.528000	0.53228	GAA	CCDC43	-	NULL	ENSG00000180329		0.478	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CCDC43	HGNC	protein_coding	OTTHUMT00000457812.1		0.00	83	0	T	NM_144609		42756261	-1			no_errors	ENST00000315286	ensembl	human	known	74_37	missense	9.23	59	6	SNP	1.000	C
CCDC40	55036	genome.wustl.edu	37	17	78055751	78055751	+	Missense_Mutation	SNP	C	C	T	rs376363442		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:78055751C>T	ENST00000397545.4	+	12	1910	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	CCDC40_ENST00000374877.3_Missense_Mutation_p.T628M	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	628					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGAGGAAGACGGATGCTGCC	0.572																																																	0								C	MET/THR	0,4300		0,0,2150	39.0	44.0	42.0		1883	-0.9	0.0	17		42	1,8517		0,1,4258	no	missense	CCDC40	NM_017950.3	81	0,1,6408	TT,TC,CC		0.0117,0.0,0.0078	benign	628/1143	78055751	1,12817	2150	4259	6409	SO:0001583	missense	0			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1883C>T	17.37:g.78055751C>T	ENSP00000380679:p.Thr628Met		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	pfam_E3_ubiquit_lig_BRE1	p.T628M	ENST00000397545.4	37	c.1883	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	C	3.337	-0.135348	0.06711	0.0	1.17E-4	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.42131	0.98;1.0	5.07	-0.864	0.10666	.	.	.	.	.	T	0.11922	0.0290	N	0.00707	-1.245	0.09310	N	1	B;B	0.15930	0.009;0.015	B;B	0.06405	0.002;0.002	T	0.29243	-1.0018	9	0.25106	T	0.35	-17.8999	6.084	0.19956	0.1196:0.2161:0.0:0.6643	.	628;411	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	M	628	ENSP00000364011:T628M;ENSP00000380679:T628M	ENSP00000364011:T628M	T	+	2	0	CCDC40	75670346	0.724000	0.28038	0.001000	0.08648	0.004000	0.04260	1.136000	0.31467	-0.017000	0.14103	-0.290000	0.09829	ACG	CCDC40	-	NULL	ENSG00000141519		0.572	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	-	0.00	27	0	C	XM_371082		78055751	+1	tier1	-	no_errors	ENST00000397545	ensembl	human	known	74_37	missense	48.39	16	15	SNP	0.003	T
CCDC57	284001	genome.wustl.edu	37	17	80121090	80121090	+	Nonsense_Mutation	SNP	G	G	A	rs201336748		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:80121090G>A	ENST00000389641.4	-	13	2062	c.2026C>T	c.(2026-2028)Cga>Tga	p.R676*	CCDC57_ENST00000392343.3_Nonsense_Mutation_p.R676*|CCDC57_ENST00000327026.3_5'UTR|RP11-1376P16.1_ENST00000582774.1_RNA|CCDC57_ENST00000392347.1_Nonsense_Mutation_p.R676*			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	676										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGTCTGAGTCGTGTCACCAGC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18669	0.0		0.0	False		,,,				2504	0.001																0								G	stop/ARG	4,4174		0,4,2085	147.0	156.0	153.0		2026	0.6	0.0	17		153	0,8406		0,0,4203	yes	stop-gained	CCDC57	NM_198082.2		0,4,6288	AA,AG,GG		0.0,0.0957,0.0318		676/916	80121090	4,12580	2089	4203	6292	SO:0001587	stop_gained	0			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2026C>T	17.37:g.80121090G>A	ENSP00000374292:p.Arg676*		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Nonsense_Mutation	SNP	NULL	p.R676*	ENST00000389641.4	37	c.2026		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.259674|4.259674	0.80246|0.80246	9.57E-4|9.57E-4	0.0|0.0	ENSG00000176155|ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343|ENST00000419322	.|.	.|.	.|.	2.86|2.86	0.581|0.581	0.17407|0.17407	.|.	0.967105|.	0.08401|.	N|.	0.951395|.	.|T	.|0.38772	.|0.1053	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33369	.|-0.9871	.|5	0.02654|0.45353	T|T	1|0.12	-2.432|-2.432	8.407|8.407	0.32621|0.32621	0.0:0.4809:0.5191:0.0|0.0:0.4809:0.5191:0.0	.|.	.|.	.|.	.|.	X|M	676;676;184;676|21	.|.	ENSP00000315967:R184X|ENSP00000408124:T21M	R|T	-|-	1|2	2|0	CCDC57|CCDC57	77714379|77714379	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	0.143000|0.143000	0.16115|0.16115	0.198000|0.198000	0.20407|0.20407	0.557000|0.557000	0.71058|0.71058	CGA|ACG	CCDC57	-	NULL	ENSG00000176155		0.617	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC57	HGNC	protein_coding	OTTHUMT00000277182.3	-	0.00	55	0	G	NM_198082		80121090	-1	tier1	rs201336748	no_errors	ENST00000389641	ensembl	human	known	74_37	nonsense	36.84	24	14	SNP	0.000	A
CCDC77	84318	genome.wustl.edu	37	12	521005	521005	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:521005delC	ENST00000239830.4	+	4	310	c.131delC	c.(130-132)tccfs	p.S44fs	CCDC77_ENST00000540180.1_Frame_Shift_Del_p.S12fs|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Frame_Shift_Del_p.S12fs|CCDC77_ENST00000422000.1_Frame_Shift_Del_p.S12fs	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	44						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			CCCTTGCCTTCCCCCGAAGAT	0.522																																																	0													107.0	95.0	99.0					12																	521005		2203	4300	6503	SO:0001589	frameshift_variant	0			AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.131delC	12.37:g.521005delC	ENSP00000239830:p.Ser44fs		B4DDE8	Frame_Shift_Del	DEL	NULL	p.E46fs	ENST00000239830.4	37	c.131	CCDS8503.1	12																																																																																			CCDC77	-	NULL	ENSG00000120647		0.522	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC77	HGNC	protein_coding	OTTHUMT00000251296.1		0.00	23	0	C	NM_032358		521005	+1	tier1		no_errors	ENST00000239830	ensembl	human	known	74_37	frame_shift_del	54.17	22	26	DEL	1.000	-
CCDC63	160762	genome.wustl.edu	37	12	111321964	111321964	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:111321964C>T	ENST00000308208.5	+	8	1226	c.984C>T	c.(982-984)gcC>gcT	p.A328A	CCDC63_ENST00000552694.1_Silent_p.A249A|CCDC63_ENST00000545036.1_Silent_p.A288A	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	328										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						ATTTTCTGGCCAAGGAGGAGA	0.532																																																	0													126.0	123.0	124.0					12																	111321964		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.984C>T	12.37:g.111321964C>T			B4DY03|Q0P603|Q6P2E1	Silent	SNP	NULL	p.A328	ENST00000308208.5	37	c.984	CCDS9151.1	12																																																																																			CCDC63	-	NULL	ENSG00000173093		0.532	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2	-	0.00	75	0	C	NM_152591		111321964	+1	tier1	-	no_errors	ENST00000308208	ensembl	human	known	74_37	silent	42.05	51	37	SNP	1.000	T
CCDC96	257236	genome.wustl.edu	37	4	7043578	7043578	+	Missense_Mutation	SNP	G	G	A	rs377449312		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:7043578G>A	ENST00000310085.4	-	1	1150	c.1088C>T	c.(1087-1089)gCg>gTg	p.A363V	RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	363										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						ATCCTCCAACGCCTGGATCTG	0.592																																																	0								G	VAL/ALA	1,4405		0,1,2202	71.0	83.0	79.0		1088	3.1	1.0	4		79	0,8600		0,0,4300	no	missense	CCDC96	NM_153376.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	363/556	7043578	1,13005	2203	4300	6503	SO:0001583	missense	0			AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.1088C>T	4.37:g.7043578G>A	ENSP00000309285:p.Ala363Val		Q8N2I7	Missense_Mutation	SNP	NULL	p.A363V	ENST00000310085.4	37	c.1088	CCDS3395.1	4	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018164	0.35606	2.27E-4	0.0	ENSG00000173013	ENST00000310085	T	0.49432	0.78	3.98	3.08	0.35506	.	0.217217	0.28677	N	0.014513	T	0.32406	0.0828	L	0.60455	1.87	0.32810	D	0.501319	P	0.44946	0.846	B	0.30251	0.113	T	0.49254	-0.8959	10	0.30854	T	0.27	-21.1308	7.4665	0.27324	0.0919:0.0:0.7412:0.1669	.	363	Q2M329	CCD96_HUMAN	V	363	ENSP00000309285:A363V	ENSP00000309285:A363V	A	-	2	0	CCDC96	7094479	0.886000	0.30341	0.977000	0.42913	0.602000	0.36980	1.203000	0.32284	2.068000	0.61886	0.462000	0.41574	GCG	CCDC96	-	NULL	ENSG00000173013		0.592	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC96	HGNC	protein_coding	OTTHUMT00000246838.1	-	0.00	23	0	G	NM_153376		7043578	-1	tier1	-	no_errors	ENST00000310085	ensembl	human	known	74_37	missense	47.06	9	8	SNP	0.842	A
CCER1	196477	genome.wustl.edu	37	12	91348110	91348110	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:91348110delG	ENST00000358859.2	-	1	843	c.410delC	c.(409-411)ccafs	p.P137fs	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	137																	CTTCCTGCCTGGGGGCTTCAC	0.697																																																	0													14.0	17.0	16.0					12																	91348110		2195	4284	6479	SO:0001589	frameshift_variant	0			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.410delC	12.37:g.91348110delG	ENSP00000351727:p.Pro137fs		Q8TC47	Frame_Shift_Del	DEL	NULL	p.P137fs	ENST00000358859.2	37	c.410	CCDS9036.1	12																																																																																			CCER1	-	NULL	ENSG00000197651		0.697	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCER1	HGNC	protein_coding	OTTHUMT00000407142.2		0.00	16	0	G	NM_152638		91348110	-1			no_errors	ENST00000358859	ensembl	human	known	74_37	frame_shift_del	23.81	16	5	DEL	0.002	0
CCL14	6358	genome.wustl.edu	37	17	34312816	34312816	+	Intron	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:34312816G>T	ENST00000394509.4	-	1	188				CCL14_ENST00000435911.2_Missense_Mutation_p.P32Q|CCL15-CCL14_ENST00000481427.2_Intron|CCL14_ENST00000586216.1_Intron|CCL14_ENST00000480944.2_5'UTR|CTB-186H2.3_ENST00000591669.1_Intron|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000536149.1_Missense_Mutation_p.P32Q			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14						cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)	extracellular space (GO:0005615)				large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AACAACCTTCGGTTTCCCCCC	0.423																																																	0													171.0	151.0	157.0					17																	34312816		692	1591	2283	SO:0001627	intron_variant	0			Z49270	CCDS32624.1, CCDS45652.1	17q11.2	2014-04-10	2002-08-22	2002-08-23	ENSG00000213494	ENSG00000276409		"""Chemokine ligands"", ""Endogenous ligands"""	10612	protein-coding gene	gene with protein product		601392	"""small inducible cytokine subfamily A (Cys-Cys), member 14"""	SCYA14		8661057	Standard	NM_032963		Approved	HCC-1, HCC-3, NCC-2, SCYL2, CKb1, MCIF	uc010wcq.1	Q16627	OTTHUMG00000188403	ENST00000394509.4:c.79+790C>A	17.37:g.34312816G>T			E1P649|E1P650|Q13954	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	p.P32Q	ENST00000394509.4	37	c.95	CCDS32624.1	17	.	.	.	.	.	.	.	.	.	.	T	6.662	0.490639	0.12702	.	.	ENSG00000213494	ENST00000536149;ENST00000435911	T;T	0.03468	3.92;3.92	3.39	-0.605	0.11623	.	.	.	.	.	T	0.01489	0.0048	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47407	-0.9120	8	0.06236	T	0.91	.	4.1753	0.10349	0.0:0.3967:0.1888:0.4145	.	32	Q16627-2	.	Q	32	ENSP00000441771:P32Q;ENSP00000409197:P32Q	ENSP00000409197:P32Q	P	-	2	0	CCL14	31336929	0.000000	0.05858	0.000000	0.03702	0.280000	0.26924	0.112000	0.15479	-0.440000	0.07211	-0.362000	0.07510	CCG	CCL14	-	NULL	ENSG00000213494		0.423	CCL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL14	HGNC	protein_coding	OTTHUMT00000272892.2	-	0.00	65	0	G	NM_032962		34312816	-1	tier1	-	no_errors	ENST00000435911	ensembl	human	known	74_37	missense	8.47	54	5	SNP	0.000	T
CCNF	899	genome.wustl.edu	37	16	2499297	2499297	+	Silent	SNP	G	G	T	rs111543933	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:2499297G>T	ENST00000397066.4	+	12	1321	c.1233G>T	c.(1231-1233)gtG>gtT	p.V411V		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	411					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CCACTGTGGTGGATTACAAGG	0.657																																																	0													59.0	59.0	59.0					16																	2499297		2198	4300	6498	SO:0001819	synonymous_variant	0			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1233G>T	16.37:g.2499297G>T			B2R8H3|Q96EG9	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom	p.V411	ENST00000397066.4	37	c.1233	CCDS10467.1	16																																																																																			CCNF	-	pfam_Cyclin_C-dom,superfamily_Cyclin-like	ENSG00000162063		0.657	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1	-	0.00	15	0	G	NM_001761		2499297	+1	tier1	-	no_errors	ENST00000397066	ensembl	human	known	74_37	silent	20.00	16	4	SNP	0.949	T
CCNF	899	genome.wustl.edu	37	16	2499426	2499426	+	Silent	SNP	C	C	T	rs373935407		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:2499426C>T	ENST00000397066.4	+	12	1450	c.1362C>T	c.(1360-1362)gcC>gcT	p.A454A		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	454					mitotic nuclear division (GO:0007067)|negative regulation of centrosome duplication (GO:0010826)|placenta development (GO:0001890)|protein ubiquitination (GO:0016567)|re-entry into mitotic cell cycle (GO:0000320)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	centriole (GO:0005814)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GCCTGGCTGCCGCAGCCCTGC	0.667																																																	0								C		0,4394		0,0,2197	33.0	34.0	34.0		1362	-10.8	0.0	16		34	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	CCNF	NM_001761.2		0,1,6494	TT,TC,CC		0.0116,0.0,0.0077		454/787	2499426	1,12989	2197	4298	6495	SO:0001819	synonymous_variant	0			Z36714	CCDS10467.1	16p13.3	2008-02-05			ENSG00000162063	ENSG00000162063		"""F-boxes /  ""other"""""	1591	protein-coding gene	gene with protein product		600227				7896286	Standard	NM_001761		Approved	FBX1, FBXO1	uc002cqd.1	P41002	OTTHUMG00000128858	ENST00000397066.4:c.1362C>T	16.37:g.2499426C>T			B2R8H3|Q96EG9	Silent	SNP	pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom	p.A454	ENST00000397066.4	37	c.1362	CCDS10467.1	16																																																																																			CCNF	-	pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like	ENSG00000162063		0.667	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNF	HGNC	protein_coding	OTTHUMT00000250801.1		0.00	13	0	C	NM_001761		2499426	+1			no_errors	ENST00000397066	ensembl	human	known	74_37	silent	25.00	9	3	SNP	0.004	T
CCNL1	57018	genome.wustl.edu	37	3	156866204	156866204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:156866204delT	ENST00000295926.3	-	11	1525	c.1407delA	c.(1405-1407)aaafs	p.K469fs	CCNL1_ENST00000479052.1_5'Flank|CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	469					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GAGAACGAGATTTTTTCCTTT	0.453																																																	0													271.0	256.0	261.0					3																	156866204		2203	4300	6503	SO:0001589	frameshift_variant	0			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1407delA	3.37:g.156866204delT	ENSP00000295926:p.Lys469fs		B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Frame_Shift_Del	DEL	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.K469fs	ENST00000295926.3	37	c.1407	CCDS3178.1	3																																																																																			CCNL1	-	pirsf_Cyclin_L	ENSG00000163660		0.453	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL1	HGNC	protein_coding	OTTHUMT00000351859.1		0.00	122	0	T	NM_020307		156866204	-1	tier1		no_errors	ENST00000295926	ensembl	human	known	74_37	frame_shift_del	34.65	66	35	DEL	0.503	-
CCNYL2	414194	genome.wustl.edu	37	10	42928728	42928728	+	RNA	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:42928728C>T	ENST00000483242.3	-	0	772					NR_103829.1		Q5T2Q4	CCYL2_HUMAN	cyclin Y-like 2						regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					breast(2)|endometrium(1)|lung(3)|ovary(1)	7						TAAGATGAGGCTGGCTGGCTA	0.388																																																	0																																												0			BC039000		10q11.21	2007-02-09	2007-02-09	2007-02-09	ENSG00000182632	ENSG00000182632			23495	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 21"""	C10orf21			Standard	NR_103829		Approved	bA178A10.2		Q5T2Q4	OTTHUMG00000018009		10.37:g.42928728C>T				RNA	SNP	-	NULL	ENST00000483242.3	37	NULL		10	.	.	.	.	.	.	.	.	.	.	.	0.019	-1.454689	0.01071	.	.	ENSG00000182632	ENST00000431603	.	.	.	2.03	-1.11	0.09840	.	.	.	.	.	T	0.42810	0.1219	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.23762	-1.0179	4	.	.	.	.	3.4311	0.07429	0.0:0.4924:0.2129:0.2947	.	.	.	.	N	61	.	.	S	-	2	0	CCNYL2	42248734	1.000000	0.71417	0.974000	0.42286	0.091000	0.18340	0.636000	0.24644	-0.390000	0.07774	-2.242000	0.00287	AGC	CCNYL2	-	-	ENSG00000182632		0.388	CCNYL2-002	KNOWN	basic	processed_transcript	CCNYL2	HGNC	pseudogene	OTTHUMT00000047670.5	-	0.00	175	0	C	XM_936368		42928728	-1	tier1	-	no_errors	ENST00000483242	ensembl	human	known	74_37	rna	32.96	120	59	SNP	0.977	T
CCSAP	126731	genome.wustl.edu	37	1	229460198	229460198	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:229460198delA	ENST00000366687.1	-	0	1648				CCSAP_ENST00000483092.1_5'UTR|RP4-803J11.2_ENST00000418348.1_RNA|CCSAP_ENST00000366686.1_3'UTR|CCSAP_ENST00000284617.2_3'UTR			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein						multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)											AAAAGGCAATAAAAAAAGTGA	0.358																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"""centriole and spindle-associated protein"""		"""chromosome 1 open reading frame 96"""	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.*784T>-	1.37:g.229460198delA			A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	RNA	DEL	-	NULL	ENST00000366687.1	37	NULL	CCDS1577.1	1																																																																																			CCSAP	-	-	ENSG00000154429		0.358	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSAP	HGNC	protein_coding	OTTHUMT00000091839.1		0.00	28	0	A	NM_145257		229460198	-1	tier1		no_errors	ENST00000483092	ensembl	human	known	74_37	rna	26.42	39	14	DEL	0.001	-
CCSAP	126731	genome.wustl.edu	37	1	229460857	229460857	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:229460857delA	ENST00000366687.1	-	0	989				CCSAP_ENST00000483092.1_5'UTR|RP4-803J11.2_ENST00000418348.1_RNA|CCSAP_ENST00000366686.1_3'UTR|CCSAP_ENST00000284617.2_3'UTR			Q6IQ19	CCSAP_HUMAN	centriole, cilia and spindle-associated protein						multicellular organismal development (GO:0007275)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of embryonic development (GO:0045995)	axon (GO:0030424)|axoneme (GO:0005930)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cilium (GO:0005929)|spindle (GO:0005819)											CAAATTCCCTAAAAAAAACCT	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC071609	CCDS1577.1	1q42.13	2012-06-19	2012-06-19	2012-06-19	ENSG00000154429	ENSG00000154429			29578	protein-coding gene	gene with protein product	"""centriole and spindle-associated protein"""		"""chromosome 1 open reading frame 96"""	C1orf96		22493317	Standard	NM_145257		Approved	FLJ41471, CSAP	uc001htl.4	Q6IQ19	OTTHUMG00000037663	ENST00000366687.1:c.*125T>-	1.37:g.229460857delA			A8K5X2|Q6P9G2|Q6ZW85|Q8IXU1|Q96BM2	RNA	DEL	-	NULL	ENST00000366687.1	37	NULL	CCDS1577.1	1																																																																																			CCSAP	-	-	ENSG00000154429		0.323	CCSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSAP	HGNC	protein_coding	OTTHUMT00000091839.1		0.00	34	0	A	NM_145257		229460857	-1	tier1		no_errors	ENST00000483092	ensembl	human	known	74_37	rna	32.81	43	21	DEL	0.001	-
CCSER1	401145	genome.wustl.edu	37	4	91389480	91389480	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:91389480C>T	ENST00000509176.1	+	5	1987	c.1699C>T	c.(1699-1701)Cca>Tca	p.P567S	CCSER1_ENST00000333691.8_Missense_Mutation_p.P567S|CCSER1_ENST00000432775.2_Missense_Mutation_p.P567S	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	567																	AAGAGAAGAACCAGAATTTCC	0.363																																																	0													74.0	72.0	72.0					4																	91389480		1825	4074	5899	SO:0001583	missense	0				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1699C>T	4.37:g.91389480C>T	ENSP00000425040:p.Pro567Ser		Q4W5M0|Q86V57	Missense_Mutation	SNP	NULL	p.P567S	ENST00000509176.1	37	c.1699	CCDS47099.1	4	.	.	.	.	.	.	.	.	.	.	C	9.559	1.117964	0.20877	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.41065	1.54;1.01;1.54	4.63	2.83	0.33086	.	1.304800	0.04929	N	0.456500	T	0.31702	0.0805	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.23583	-1.0184	10	0.39692	T	0.17	0.8754	8.2232	0.31554	0.0:0.7523:0.1579:0.0897	.	567;567	Q9C0I3-2;Q9C0I3	.;F190A_HUMAN	S	567	ENSP00000425040:P567S;ENSP00000389283:P567S;ENSP00000329482:P567S	ENSP00000329482:P567S	P	+	1	0	FAM190A	91608503	0.001000	0.12720	0.092000	0.20876	0.969000	0.65631	0.149000	0.16243	0.598000	0.29829	0.467000	0.42956	CCA	CCSER1	-	NULL	ENSG00000184305		0.363	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER1	HGNC	protein_coding	OTTHUMT00000363109.3	-	0.00	61	0	C	NM_001145065		91389480	+1	tier1	-	no_errors	ENST00000333691	ensembl	human	known	74_37	missense	46.91	43	38	SNP	0.263	T
CCSER2	54462	genome.wustl.edu	37	10	86133433	86133433	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:86133433C>A	ENST00000224756.8	+	3	1661	c.1476C>A	c.(1474-1476)gaC>gaA	p.D492E	CCSER2_ENST00000372088.2_Missense_Mutation_p.D492E|CCSER2_ENST00000359979.4_Missense_Mutation_p.D492E	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	492					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											CAGATACAGACTACAGAGCTG	0.388																																																	0													99.0	91.0	94.0					10																	86133433		2203	4299	6502	SO:0001583	missense	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1476C>A	10.37:g.86133433C>A	ENSP00000224756:p.Asp492Glu		B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	NULL	p.D492E	ENST00000224756.8	37	c.1476	CCDS31235.1	10	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596057	0.66332	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.58797	0.31;1.8;1.75	5.14	0.0479	0.14282	.	0.068275	0.56097	D	0.000032	T	0.66538	0.2799	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	0.998;0.994;1.0	D;P;D	0.83275	0.921;0.759;0.996	T	0.62177	-0.6909	10	0.52906	T	0.07	-11.5949	8.6268	0.33895	0.0:0.3144:0.0:0.6856	.	492;492;492	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	E	492	ENSP00000353068:D492E;ENSP00000224756:D492E;ENSP00000361160:D492E	ENSP00000224756:D492E	D	+	3	2	FAM190B	86123413	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	0.704000	0.25661	-0.256000	0.09473	-0.237000	0.12165	GAC	CCSER2	-	NULL	ENSG00000107771		0.388	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER2	HGNC	protein_coding	OTTHUMT00000049132.2	-	0.00	52	0	C	NM_018999		86133433	+1	tier1	-	no_errors	ENST00000372088	ensembl	human	known	74_37	missense	32.31	44	21	SNP	1.000	A
CD109	135228	genome.wustl.edu	37	6	74495145	74495145	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:74495145G>T	ENST00000287097.5	+	20	2394	c.2282G>T	c.(2281-2283)gGt>gTt	p.G761V	CD109_ENST00000422508.2_Missense_Mutation_p.G684V|CD109_ENST00000437994.2_Missense_Mutation_p.G761V			Q6YHK3	CD109_HUMAN	CD109 molecule	761					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTATCAGAGGTGAAGAATTT	0.333																																																	0													83.0	83.0	83.0					6																	74495145		2202	4300	6502	SO:0001583	missense	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2282G>T	6.37:g.74495145G>T	ENSP00000287097:p.Gly761Val		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.G761V	ENST00000287097.5	37	c.2282	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496039	0.85069	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.18016	2.24;2.24;2.24	4.92	4.92	0.64577	Alpha-2-macroglobulin (1);	0.052057	0.85682	D	0.000000	T	0.48314	0.1493	M	0.94063	3.49	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.63422	-0.6641	10	0.87932	D	0	.	18.3165	0.90223	0.0:0.0:1.0:0.0	.	684;761;761	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	V	761;684;761	ENSP00000388062:G761V;ENSP00000404475:G684V;ENSP00000287097:G761V	ENSP00000287097:G761V	G	+	2	0	CD109	74551866	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.784000	0.91818	2.559000	0.86315	0.655000	0.94253	GGT	CD109	-	pfam_Macroglobln_a2	ENSG00000156535		0.333	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	-	0.00	49	0	G	NM_133493		74495145	+1	tier1	-	no_errors	ENST00000287097	ensembl	human	known	74_37	missense	10.71	50	6	SNP	1.000	T
CD160	11126	genome.wustl.edu	37	1	145704302	145704302	+	Nonsense_Mutation	SNP	G	G	A	rs149851492		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:145704302G>A	ENST00000369288.2	-	4	332	c.115C>T	c.(115-117)Cga>Tga	p.R39*	CD160_ENST00000235933.6_Nonsense_Mutation_p.R39*|CD160_ENST00000401557.3_Nonsense_Mutation_p.R39*|CD160_ENST00000369290.1_Intron	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	39	Ig-like V-type.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.R39*(1)		endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			AAGTTTAGTCGCGTTCCTTCC	0.463																																					Colon(182;1122 1999 4065 44014 53024)												1	Substitution - Nonsense(1)	endometrium(1)						G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	88.0	84.0	85.0		115	-1.7	0.0	1	dbSNP_134	85	3,8597	3.0+/-9.4	0,3,4297	yes	stop-gained	CD160	NM_007053.2		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		39/182	145704302	4,13002	2203	4300	6503	SO:0001587	stop_gained	0			AF060981	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281		"""CD molecules"""	17013	protein-coding gene	gene with protein product		604463	"""CD160 antigen"""			9743336, 9973372	Standard	NM_007053		Approved	BY55, NK1, NK28	uc001eol.1	O95971	OTTHUMG00000013749	ENST00000369288.2:c.115C>T	1.37:g.145704302G>A	ENSP00000358294:p.Arg39*			Nonsense_Mutation	SNP	NULL	p.R39*	ENST00000369288.2	37	c.115	CCDS923.1	1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561362	0.27915	2.27E-4	3.49E-4	ENSG00000117281	ENST00000235933;ENST00000369288;ENST00000401557	.	.	.	4.34	-1.66	0.08265	.	1.509220	0.04434	N	0.369716	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.1234	3.9657	0.09431	0.1994:0.0:0.2932:0.5074	.	.	.	.	X	39	.	ENSP00000235933:R39X	R	-	1	2	CD160	144415659	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.155000	0.10115	-0.114000	0.11936	-0.261000	0.10672	CGA	CD160	-	NULL	ENSG00000117281		0.463	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CD160	HGNC	protein_coding	OTTHUMT00000038532.2	-	0.00	58	0	G	NM_007053		145704302	-1	tier1	rs149851492	no_errors	ENST00000235933	ensembl	human	known	74_37	nonsense	31.91	32	15	SNP	0.000	A
CD28	940	genome.wustl.edu	37	2	204571260	204571260	+	5'Flank	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:204571260T>C	ENST00000324106.8	+	0	0				CD28_ENST00000374481.3_5'UTR|CD28_ENST00000458610.2_Missense_Mutation_p.L5S|CD28_ENST00000374478.4_5'Flank	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule						apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CCTTGTGGTTTGAGTGCCTTG	0.468																																																	0																																										SO:0001631	upstream_gene_variant	0			J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878		2.37:g.204571260T>C	Exception_encountered		A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,prints_CD28	p.L5S	ENST00000324106.8	37	c.14	CCDS2361.1	2	.	.	.	.	.	.	.	.	.	.	T	14.96	2.690081	0.48097	.	.	ENSG00000178562	ENST00000458610	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	T	0.73055	0.3538	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76375	-0.2982	5	0.87932	D	0	.	12.4597	0.55725	0.0:0.0:0.0:1.0	.	.	.	.	S	5	.	ENSP00000393648:L5S	L	+	2	0	CD28	204279505	0.964000	0.33143	0.999000	0.59377	0.930000	0.56654	1.355000	0.34068	2.254000	0.74563	0.460000	0.39030	TTG	CD28	-	NULL	ENSG00000178562		0.468	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD28	HGNC	protein_coding	OTTHUMT00000256366.3	-	0.00	184	0	T	NM_006139		204571260	+1	tier1	-	no_errors	ENST00000458610	ensembl	human	putative	74_37	missense	43.56	92	71	SNP	0.998	C
CD300C	10871	genome.wustl.edu	37	17	72539041	72539041	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:72539041G>A	ENST00000330793.1	-	3	846	c.486C>T	c.(484-486)agC>agT	p.S162S		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	162	Pro-rich.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TTCTGGTCACGCTGGGCCAGG	0.672																																					Esophageal Squamous(66;421 1121 20537 25337 27468)												0													87.0	77.0	80.0					17																	72539041		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.486C>T	17.37:g.72539041G>A				Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.S162	ENST00000330793.1	37	c.486	CCDS11701.1	17																																																																																			CD300C	-	NULL	ENSG00000167850		0.672	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300C	HGNC	protein_coding	OTTHUMT00000145084.1	-	0.00	64	0	G	NM_006678		72539041	-1	tier1	-	no_errors	ENST00000330793	ensembl	human	known	74_37	silent	28.85	37	15	SNP	0.000	A
CD36	948	genome.wustl.edu	37	7	80286011	80286011	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:80286011G>A	ENST00000435819.1	+	7	960	c.276G>A	c.(274-276)acG>acA	p.T92T	CD36_ENST00000534394.1_Silent_p.T16T|CD36_ENST00000447544.2_Silent_p.T92T|CD36_ENST00000394788.3_Silent_p.T92T|CD36_ENST00000309881.7_Silent_p.T92T|CD36_ENST00000538969.1_Silent_p.T92T|CD36_ENST00000544133.1_Silent_p.T92T|CD36_ENST00000432207.1_Silent_p.T92T|CD36_ENST00000433696.2_Silent_p.T92T			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	92					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular lipid metabolic process (GO:0044255)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to hydroperoxide (GO:0071447)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cGMP-mediated signaling (GO:0019934)|cholesterol transport (GO:0030301)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|lipoprotein transport (GO:0042953)|long-chain fatty acid import (GO:0044539)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle mediated signaling (GO:0055096)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitric oxide mediated signal transduction (GO:0007263)|phagocytosis, recognition (GO:0006910)|plasma lipoprotein particle clearance (GO:0034381)|plasma membrane long-chain fatty acid transport (GO:0015911)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood microparticle formation (GO:2000334)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of removal of superoxide radicals (GO:2000121)|response to stilbenoid (GO:0035634)|small molecule metabolic process (GO:0044281)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|lipoteichoic acid receptor activity (GO:0070892)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|thrombospondin receptor activity (GO:0070053)|transforming growth factor beta binding (GO:0050431)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GTCCTTATACGTACAGGTGAG	0.393																																																	0													85.0	78.0	80.0					7																	80286011		2203	4300	6503	SO:0001819	synonymous_variant	0			Z32770	CCDS34673.1	7q11.2	2010-02-26	2006-03-28		ENSG00000135218	ENSG00000135218		"""CD molecules"""	1663	protein-coding gene	gene with protein product		173510	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)"""			7503937	Standard	NM_001001548		Approved	SCARB3, GPIV, FAT, GP4, GP3B	uc003uhg.4	P16671	OTTHUMG00000155383	ENST00000435819.1:c.276G>A	7.37:g.80286011G>A			D9IX66|D9IX67|D9IX68|D9IX69|Q13966|Q16093|Q8TCV7|Q9BPZ8|Q9BQC2|Q9BZM8|Q9BZN3|Q9BZN4|Q9BZN5	Silent	SNP	pfam_CD36,prints_CD36_antigen,prints_CD36	p.T92	ENST00000435819.1	37	c.276	CCDS34673.1	7																																																																																			CD36	-	pfam_CD36,prints_CD36	ENSG00000135218		0.393	CD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD36	HGNC	protein_coding	OTTHUMT00000339767.6	-	0.00	26	0	G	NM_001001547		80286011	+1	tier1	-	no_errors	ENST00000309881	ensembl	human	known	74_37	silent	52.38	10	11	SNP	0.004	A
CD3EAP	10849	genome.wustl.edu	37	19	45911872	45911872	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:45911872delA	ENST00000309424.3	+	3	1134	c.646delA	c.(646-648)aaafs	p.K217fs	ERCC1_ENST00000588738.1_5'Flank|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Frame_Shift_Del_p.K219fs|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		GAAGAAGAAGAAAAAAAATCA	0.587																																																	0													65.0	78.0	73.0					19																	45911872		2203	4300	6503	SO:0001589	frameshift_variant	0			U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.646delA	19.37:g.45911872delA	ENSP00000310966:p.Lys217fs		Q32N11|Q7Z5U2|Q9UPF6	Frame_Shift_Del	DEL	pfam_DNA-dir_RNA_pol1_su_RPA34	p.N220fs	ENST00000309424.3	37	c.652	CCDS12661.1	19																																																																																			CD3EAP	-	pfam_DNA-dir_RNA_pol1_su_RPA34	ENSG00000117877		0.587	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD3EAP	HGNC	protein_coding	OTTHUMT00000459538.1		0.00	50	0	A	NM_012099		45911872	+1	tier1		no_errors	ENST00000589804	ensembl	human	known	74_37	frame_shift_del	35.00	13	7	DEL	0.178	-
CD3G	917	genome.wustl.edu	37	11	118220583	118220583	+	Frame_Shift_Del	DEL	A	A	-	rs570768621|rs199676861	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:118220583delA	ENST00000532917.1	+	3	273	c.205delA	c.(205-207)aaafs	p.K71fs	CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Frame_Shift_Del_p.K11fs	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	71	Ig-like.				cell surface receptor signaling pathway (GO:0007166)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|regulation of immune response (GO:0050776)|regulation of lymphocyte apoptotic process (GO:0070228)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	alpha-beta T cell receptor complex (GO:0042105)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	protein heterodimerization activity (GO:0046982)|receptor signaling complex scaffold activity (GO:0030159)|T cell receptor binding (GO:0042608)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)	Muromonab(DB00075)	AACTGAAGATAAAAAAAAATG	0.403													AAAAAAAAA|AAAAAAAAA|AAAAAAAA|deletion	3	0.000599042	0.0008	0.0014	5008	,	,		19811	0.0		0.001	False		,,,				2504	0.0																0			GRCh37	CM983819	CD3G	M							100.0	97.0	98.0					11																	118220583		2200	4296	6496	SO:0001589	frameshift_variant	0			X60491	CCDS8395.1	11q23	2014-09-17	2006-03-28		ENSG00000160654	ENSG00000160654		"""CD molecules"""	1675	protein-coding gene	gene with protein product		186740	"""CD3g antigen, gamma polypeptide (TiT3 complex)"""				Standard	NM_000073		Approved		uc001psu.2	P09693	OTTHUMG00000166971	ENST00000532917.1:c.205delA	11.37:g.118220583delA	ENSP00000431445:p.Lys71fs		Q2HIZ6	Frame_Shift_Del	DEL	pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.K71fs	ENST00000532917.1	37	c.205	CCDS8395.1	11																																																																																			CD3G	-	smart_Ig_sub2	ENSG00000160654		0.403	CD3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD3G	HGNC	protein_coding	OTTHUMT00000392135.1		0.00	40	0	A	NM_000073		118220583	+1	tier1		no_errors	ENST00000532917	ensembl	human	known	74_37	frame_shift_del	32.65	33	16	DEL	0.000	-
CD46	4179	genome.wustl.edu	37	1	207930454	207930454	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:207930454delA	ENST00000358170.2	+	2	349	c.193delA	c.(193-195)aaafs	p.K66fs	CD46_ENST00000367041.1_Frame_Shift_Del_p.K66fs|CD46_ENST00000441839.2_Frame_Shift_Del_p.K66fs|CD46_ENST00000367047.1_Intron|CD46_ENST00000367042.1_Frame_Shift_Del_p.K66fs|CD46_ENST00000354848.1_Frame_Shift_Del_p.K66fs|CD46_ENST00000361067.1_Frame_Shift_Del_p.K66fs|CD46_ENST00000322918.5_Frame_Shift_Del_p.K66fs|CD46_ENST00000357714.1_Frame_Shift_Del_p.K66fs|CD46_ENST00000322875.4_Frame_Shift_Del_p.K66fs|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000480003.1_Frame_Shift_Del_p.K66fs|CD46_ENST00000360212.2_Frame_Shift_Del_p.K66fs	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	66	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TTATAAGTGTAAAAAAGGATA	0.413																																																	0													111.0	109.0	110.0					1																	207930454		2203	4300	6503	SO:0001589	frameshift_variant	0			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.193delA	1.37:g.207930454delA	ENSP00000350893:p.Lys66fs		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Frame_Shift_Del	DEL	pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.G67fs	ENST00000358170.2	37	c.193	CCDS1485.1	1																																																																																			CD46	-	pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117335		0.413	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	HGNC	protein_coding	OTTHUMT00000088588.3		0.00	70	0	A	NM_172361		207930454	+1	tier1		no_errors	ENST00000322875	ensembl	human	known	74_37	frame_shift_del	18.18	99	22	DEL	0.001	-
CD46	4179	genome.wustl.edu	37	1	207934699	207934699	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:207934699C>T	ENST00000358170.2	+	5	737	c.581C>T	c.(580-582)gCa>gTa	p.A194V	CD46_ENST00000367041.1_Missense_Mutation_p.A194V|CD46_ENST00000441839.2_Missense_Mutation_p.A194V|CD46_ENST00000367047.1_Missense_Mutation_p.A131V|CD46_ENST00000367042.1_Missense_Mutation_p.A194V|CD46_ENST00000354848.1_Missense_Mutation_p.A194V|CD46_ENST00000361067.1_Missense_Mutation_p.A194V|CD46_ENST00000322918.5_Missense_Mutation_p.A194V|CD46_ENST00000357714.1_Missense_Mutation_p.A194V|CD46_ENST00000322875.4_Missense_Mutation_p.A194V|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000480003.1_Missense_Mutation_p.A194V|CD46_ENST00000360212.2_Missense_Mutation_p.A194V	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	194	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGTGATCCTGCACCTGGACCA	0.398																																																	0													153.0	131.0	138.0					1																	207934699		2203	4300	6503	SO:0001583	missense	0			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.581C>T	1.37:g.207934699C>T	ENSP00000350893:p.Ala194Val		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.A194V	ENST00000358170.2	37	c.581	CCDS1485.1	1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.013355	0.35511	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	4.85	-2.88	0.05682	Complement control module (2);Sushi/SCR/CCP (3);	1.967230	0.02652	N	0.106583	T	0.58090	0.2098	N	0.11756	0.17	0.09310	N	1	B;B;B;B;D;D;B;B;B;B;B;D;D;D	0.76494	0.3;0.015;0.15;0.3;0.995;0.999;0.3;0.15;0.3;0.376;0.3;0.998;0.998;0.999	B;B;B;B;P;D;B;B;B;B;B;D;D;D	0.70227	0.019;0.001;0.021;0.019;0.886;0.946;0.019;0.021;0.019;0.01;0.019;0.92;0.92;0.968	T	0.50642	-0.8804	10	0.40728	T	0.16	.	3.6319	0.08135	0.2775:0.3063:0.0:0.4161	.	194;194;194;194;194;194;194;194;194;194;194;194;194;194	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	V	194;194;194;194;194;194;194;131;194;194;194;194	ENSP00000350893:A194V;ENSP00000346912:A194V;ENSP00000314664:A194V;ENSP00000356009:A194V;ENSP00000356008:A194V;ENSP00000350346:A194V;ENSP00000313875:A194V;ENSP00000356014:A131V;ENSP00000413543:A194V;ENSP00000354358:A194V;ENSP00000353342:A194V;ENSP00000418471:A194V	ENSP00000313875:A194V	A	+	2	0	CD46	206001322	0.000000	0.05858	0.000000	0.03702	0.277000	0.26821	-1.512000	0.02258	-0.416000	0.07473	0.585000	0.79938	GCA	CD46	-	pirsf_M_CF_CD46,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117335		0.398	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	HGNC	protein_coding	OTTHUMT00000088588.3	-	0.00	98	0	C	NM_172361		207934699	+1	tier1	-	no_errors	ENST00000322875	ensembl	human	known	74_37	missense	31.82	105	49	SNP	0.000	T
CD47	961	genome.wustl.edu	37	3	107762206	107762206	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:107762206delT	ENST00000355354.7	-	0	4959				CD47_ENST00000471694.1_5'UTR	NM_198793.2	NP_942088.1	Q08722	CD47_HUMAN	CD47 molecule						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			CAAAGTTATGTTTTTTTTTAA	0.239																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216	ENST00000355354.7:c.*3925A>-	3.37:g.107762206delT			A8K198|D3DN59|Q53Y71|Q96A60	RNA	DEL	-	NULL	ENST00000355354.7	37	NULL	CCDS43125.1	3																																																																																			CD47	-	-	ENSG00000196776		0.239	CD47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD47	HGNC	protein_coding	OTTHUMT00000102791.1		0.00	21	0	T	NM_001777		107762206	-1	tier1		no_errors	ENST00000471694	ensembl	human	known	74_37	rna	21.21	26	7	DEL	0.995	-
CD5L	922	genome.wustl.edu	37	1	157805866	157805866	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:157805866C>A	ENST00000368174.4	-	3	231	c.135G>T	c.(133-135)tgG>tgT	p.W45C	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	45	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACACGGTGCCCCACTGGCCTT	0.617																																																	0													99.0	97.0	97.0					1																	157805866		2203	4300	6503	SO:0001583	missense	0			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.135G>T	1.37:g.157805866C>A	ENSP00000357156:p.Trp45Cys		A8K7M5|Q6UX63	Missense_Mutation	SNP	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.W45C	ENST00000368174.4	37	c.135	CCDS1171.1	1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941063	0.53079	.	.	ENSG00000073754	ENST00000368174	T	0.55413	0.52	4.85	4.85	0.62838	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.000000	0.42294	D	0.000735	D	0.82655	0.5084	H	0.99391	4.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89908	0.4049	10	0.87932	D	0	.	15.5102	0.75776	0.0:1.0:0.0:0.0	.	45	O43866	CD5L_HUMAN	C	45	ENSP00000357156:W45C	ENSP00000357156:W45C	W	-	3	0	CD5L	156072490	1.000000	0.71417	0.933000	0.37362	0.019000	0.09904	7.253000	0.78320	2.503000	0.84419	0.563000	0.77884	TGG	CD5L	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	ENSG00000073754		0.617	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5L	HGNC	protein_coding	OTTHUMT00000058346.1	-	0.00	41	0	C	NM_005894		157805866	-1	tier1	-	no_errors	ENST00000368174	ensembl	human	known	74_37	missense	31.37	35	16	SNP	1.000	A
CD72	971	genome.wustl.edu	37	9	35610103	35610103	+	3'UTR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:35610103C>T	ENST00000396757.1	-	0	1461				CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_3'UTR|MIR4667_ENST00000578933.1_RNA			P21854	CD72_HUMAN	CD72 molecule						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCAAAGTCCCTTCTAGAGG	0.637																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.*217G>A	9.37:g.35610103C>T				RNA	SNP	-	NULL	ENST00000396757.1	37	NULL	CCDS6581.1	9																																																																																			CD72	-	-	ENSG00000137101		0.637	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD72	HGNC	protein_coding	OTTHUMT00000052336.1	-	0.00	51	0	C	NM_001782		35610103	-1	tier1	-	no_errors	ENST00000490239	ensembl	human	known	74_37	rna	52.27	21	23	SNP	0.191	T
CD79A	973	genome.wustl.edu	37	19	42383610	42383610	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:42383610delC	ENST00000221972.3	+	3	570	c.385delC	c.(385-387)cccfs	p.P130fs	CD79A_ENST00000444740.2_Frame_Shift_Del_p.P92fs	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	130					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.R131fs*61(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						TGCAGAGCCGCCCCCCAGGCC	0.677			"""O, S"""		DLBCL																																			Dom	yes		19	19q13.2	973	"""CD79a molecule, immunoglobulin-associated alpha"""		L	1	Deletion - Frameshift(1)	large_intestine(1)											32.0	20.0	24.0					19																	42383610		2199	4296	6495	SO:0001589	frameshift_variant	0			M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1698	protein-coding gene	gene with protein product		112205	"""CD79A antigen (immunoglobulin-associated alpha)"""	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.385delC	19.37:g.42383610delC	ENSP00000221972:p.Pro130fs		A0N775|Q53FB8	Frame_Shift_Del	DEL	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Phos_immunorcpt_sig_ITAM,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like_dom	p.R131fs	ENST00000221972.3	37	c.385	CCDS12589.1	19																																																																																			CD79A	-	NULL	ENSG00000105369		0.677	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD79A	HGNC	protein_coding	OTTHUMT00000463058.1		0.00	35	0	C			42383610	+1	tier1		no_errors	ENST00000221972	ensembl	human	known	74_37	frame_shift_del	29.41	24	10	DEL	0.007	-
CD9	928	genome.wustl.edu	37	12	6347089	6347089	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:6347089delT	ENST00000382518.1	+	0	1218				CD9_ENST00000382515.2_3'UTR|CD9_ENST00000481267.1_3'UTR|CD9_ENST00000009180.4_3'UTR			P21926	CD9_HUMAN	CD9 molecule						blood coagulation (GO:0007596)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|oligodendrocyte development (GO:0014003)|paranodal junction assembly (GO:0030913)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|response to water deprivation (GO:0009414)|single fertilization (GO:0007338)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|vesicle (GO:0031982)				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						ttgttgtttgtttttttgCCA	0.318											OREG0031245	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																					0																																										SO:0001624	3_prime_UTR_variant	0			M38690	CCDS8540.1	12p13	2013-02-14	2006-03-28		ENSG00000010278	ENSG00000010278		"""CD molecules"", ""Tetraspanins"""	1709	protein-coding gene	gene with protein product	"""motility related protein-1"""	143030	"""CD9 antigen (p24)"""	MIC3		6198179	Standard	NM_001769		Approved	BA2, P24, TSPAN29, MRP-1	uc001qnq.2	P21926	OTTHUMG00000044400	ENST00000382518.1:c.*95T>-	12.37:g.6347089delT		633	D3DUQ9|Q5J7W6|Q96ES4	RNA	DEL	-	NULL	ENST00000382518.1	37	NULL	CCDS8540.1	12																																																																																			CD9	-	-	ENSG00000010278		0.318	CD9-004	NOVEL	basic|appris_principal|CCDS	protein_coding	CD9	HGNC	protein_coding	OTTHUMT00000103348.1		0.00	9	0	T			6347089	+1	tier1		no_errors	ENST00000481267	ensembl	human	known	74_37	rna	51.72	14	15	DEL	0.010	-
CD93	22918	genome.wustl.edu	37	20	23065105	23065105	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:23065105G>T	ENST00000246006.4	-	1	1872	c.1725C>A	c.(1723-1725)ggC>ggA	p.G575G		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	575					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCCGTCAGTGCCATCGTTGT	0.617																																																	0													139.0	131.0	134.0					20																	23065105		2203	4300	6503	SO:0001819	synonymous_variant	0			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1725C>A	20.37:g.23065105G>T			O00274	Silent	SNP	pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin	p.G575	ENST00000246006.4	37	c.1725	CCDS13149.1	20																																																																																			CD93	-	NULL	ENSG00000125810		0.617	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2	-	0.00	78	0	G	NM_012072		23065105	-1	tier1	-	no_errors	ENST00000246006	ensembl	human	known	74_37	silent	30.16	44	19	SNP	0.263	T
CDC123	8872	genome.wustl.edu	37	10	12292343	12292343	+	3'UTR	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:12292343T>C	ENST00000281141.4	+	0	1298				RP11-186N15.3_ENST00000421657.1_RNA|CDC123_ENST00000378900.2_3'UTR	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123						cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						CTGATGAGCGTACTGGAACTG	0.572																																																	0													66.0	65.0	65.0					10																	12292343		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.*7T>C	10.37:g.12292343T>C			A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	RNA	SNP	-	NULL	ENST00000281141.4	37	NULL	CCDS7090.1	10	.	.	.	.	.	.	.	.	.	.	T	12.44	1.937397	0.34189	.	.	ENSG00000151465	ENST00000455773	.	.	.	5.38	-1.13	0.09775	.	.	.	.	.	T	0.13114	0.0318	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31166	-0.9953	5	0.07644	T	0.81	.	5.569	0.17187	0.1492:0.4401:0.0:0.4107	.	.	.	.	A	249	.	ENSP00000415803:V249A	V	+	2	0	CDC123	12332349	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.027000	0.12371	-0.093000	0.12396	-0.290000	0.09829	GTA	CDC123	-	-	ENSG00000151465		0.572	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC123	HGNC	protein_coding	OTTHUMT00000046801.1	-	0.00	43	0	T	NM_006023		12292343	+1	tier1	-	no_errors	ENST00000498747	ensembl	human	known	74_37	rna	28.30	38	15	SNP	0.000	C
CDC14A	8556	genome.wustl.edu	37	1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:100889837delC	ENST00000336454.3	+	5	724	c.369delC	c.(367-369)aacfs	p.N123fs	CDC14A_ENST00000370124.3_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000542213.1_Frame_Shift_Del_p.N65fs|CDC14A_ENST00000544534.1_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000361544.6_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000370125.2_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000469387.1_3'UTR	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	123	A.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTGGCTCAAACCCCCCCTATC	0.403																																																	0													95.0	99.0	98.0					1																	100889837		2203	4300	6503	SO:0001589	frameshift_variant	0			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.369delC	1.37:g.100889837delC	ENSP00000336739:p.Asn123fs		A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Frame_Shift_Del	DEL	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.Y126fs	ENST00000336454.3	37	c.369	CCDS769.1	1																																																																																			CDC14A	-	NULL	ENSG00000079335		0.403	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDC14A	HGNC	protein_coding	OTTHUMT00000030220.1		0.00	97	0	C	NM_033312		100889837	+1	tier1		no_errors	ENST00000361544	ensembl	human	known	74_37	frame_shift_del	35.63	56	31	DEL	0.021	-
CDC16	8881	genome.wustl.edu	37	13	115012591	115012591	+	Intron	DEL	T	T	-	rs5807004		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:115012591delT	ENST00000356221.3	+	11	1079				CDC16_ENST00000375308.1_Intron|CDC16_ENST00000375312.3_Intron|CDC16_ENST00000252458.6_Intron|CDC16_ENST00000360383.3_Intron|CDC16_ENST00000375310.1_Intron|MIR548AR_ENST00000582191.1_RNA|CDC16_ENST00000252457.5_Intron			Q13042	CDC16_HUMAN	cell division cycle 16						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AGAATAAATGttttttttttt	0.353																																																	0																																										SO:0001627	intron_variant	0			U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.971+112T>-	13.37:g.115012591delT			A2A365|Q5T8C8|Q96AE6|Q9Y564	RNA	DEL	-	NULL	ENST00000356221.3	37	NULL	CCDS9542.2	13																																																																																			CDC16	-	-	ENSG00000130177		0.353	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDC16	HGNC	protein_coding	OTTHUMT00000276737.1		0.00	22	0	T	NM_003903		115012591	+1	tier1		no_errors	ENST00000494581	ensembl	human	known	74_37	rna	42.86	16	12	DEL	0.004	-
CDC42BPA	8476	genome.wustl.edu	37	1	227219077	227219077	+	Missense_Mutation	SNP	G	G	A	rs373032133		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:227219077G>A	ENST00000366769.3	-	27	4883	c.3592C>T	c.(3592-3594)Cgc>Tgc	p.R1198C	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R1178C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R1211C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R1198C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R1170C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R1233C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R1117C	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TAGACTGAGCGGTCTCTGAAT	0.413																																																	0													162.0	162.0	162.0					1																	227219077		2203	4300	6503	SO:0001583	missense	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3592C>T	1.37:g.227219077G>A	ENSP00000355731:p.Arg1198Cys			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.R1198C	ENST00000366769.3	37	c.3592	CCDS1558.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.200149|5.200149	0.94997|0.94997	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725|ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	.|T;T;T;T;T;T;T	.|0.68903	.|-0.32;-0.31;-0.34;-0.32;-0.36;-0.34;-0.31	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83806|0.83806	0.5334|0.5334	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D;D	.|0.91635	.|0.999;0.978;0.932;0.943;0.994;0.954;0.954;0.987	D|D	0.85189|0.85189	0.1008|0.1008	5|10	.|0.87932	.|D	.|0	.|.	19.8579|19.8579	0.96771|0.96771	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1178;1170;513;95;1117;1198;1233;400	.|F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799	.|.;.;.;.;.;.;.;.	L|C	400;526;95;422|1198;1117;1198;1233;1170;513;1178;1211	.|ENSP00000355731:R1198C;ENSP00000355729:R1117C;ENSP00000335341:R1198C;ENSP00000355728:R1233C;ENSP00000355726:R1170C;ENSP00000443275:R1178C;ENSP00000355727:R1211C	.|ENSP00000335341:R1198C	P|R	-|-	2|1	0|0	CDC42BPA|CDC42BPA	225285700|225285700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.894000|7.894000	0.87336|0.87336	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	CCG|CGC	CDC42BPA	-	NULL	ENSG00000143776		0.413	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	-	0.00	31	0	G	NM_014826		227219077	-1	tier1	-	no_errors	ENST00000334218	ensembl	human	known	74_37	missense	20.83	38	10	SNP	1.000	A
CDC42BPA	8476	genome.wustl.edu	37	1	227288919	227288919	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:227288919G>T	ENST00000366769.3	-	15	3314	c.2023C>A	c.(2023-2025)Cca>Aca	p.P675T	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.P675T|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.P675T|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.P675T|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.P675T|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.P675T|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.P594T	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.P675T(2)|p.P594T(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CATACTCCTGGTGAGTAACTA	0.259																																																	3	Substitution - Missense(3)	endometrium(3)											66.0	67.0	66.0					1																	227288919		2199	4293	6492	SO:0001583	missense	0			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2023C>A	1.37:g.227288919G>T	ENSP00000355731:p.Pro675Thr			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.P675T	ENST00000366769.3	37	c.2023	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	g	10.09	1.254280	0.22965	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.64803	-0.1;-0.1;-0.1;-0.11;-0.12;-0.09;-0.08	5.57	5.57	0.84162	.	0.211271	0.49916	D	0.000132	T	0.59321	0.2185	L	0.55481	1.735	0.42055	D	0.991132	B;B;B;B	0.15473	0.01;0.001;0.004;0.013	B;B;B;B	0.15484	0.007;0.003;0.013;0.008	T	0.55464	-0.8137	10	0.16896	T	0.51	.	19.5667	0.95397	0.0:0.0:1.0:0.0	.	675;675;594;675	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	T	675;594;675;675;675;675;675	ENSP00000355731:P675T;ENSP00000355729:P594T;ENSP00000335341:P675T;ENSP00000355728:P675T;ENSP00000355726:P675T;ENSP00000443275:P675T;ENSP00000355727:P675T	ENSP00000335341:P675T	P	-	1	0	CDC42BPA	225355542	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.439000	0.44846	2.604000	0.88044	0.645000	0.84053	CCA	CDC42BPA	-	NULL	ENSG00000143776		0.259	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	-	0.00	58	0	G	NM_014826		227288919	-1	tier1	-	no_errors	ENST00000334218	ensembl	human	known	74_37	missense	7.79	71	6	SNP	1.000	T
CDC45	8318	genome.wustl.edu	37	22	19496067	19496067	+	Missense_Mutation	SNP	G	G	A	rs369554602	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:19496067G>A	ENST00000407835.1	+	14	1326	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	CDC45_ENST00000437685.2_Missense_Mutation_p.R389H|CDC45_ENST00000404724.3_Missense_Mutation_p.R311H|CDC45_ENST00000263201.1_Missense_Mutation_p.R357H			O75419	CDC45_HUMAN	cell division cycle 45	357					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R357H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						AAGGACATGCGCGTGCAGACT	0.527													G|||	2	0.000399361	0.0	0.0	5008	,	,		22520	0.0		0.0	False		,,,				2504	0.002																1	Substitution - Missense(1)	endometrium(1)						G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	172.0	132.0	146.0		1166,932,1070	5.7	1.0	22		146	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CDC45	NM_001178010.1,NM_001178011.1,NM_003504.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	389/599,311/521,357/567	19496067	1,13005	2203	4300	6503	SO:0001583	missense	0			AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1070G>A	22.37:g.19496067G>A	ENSP00000385240:p.Arg357His		B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	pfam_CDC45	p.R389H	ENST00000407835.1	37	c.1166	CCDS13762.1	22	.	.	.	.	.	.	.	.	.	.	G	32	5.181161	0.94846	0.0	1.16E-4	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.47783	0.1464	M	0.72118	2.19	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;0.999	D;D;D;D;D	0.71656	0.961;0.953;0.974;0.961;0.961	T	0.23940	-1.0174	10	0.40728	T	0.16	-17.3948	19.9197	0.97082	0.0:0.0:1.0:0.0	.	389;352;311;389;357	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	H	357;389;357;311	ENSP00000385240:R357H;ENSP00000405726:R389H;ENSP00000263201:R357H;ENSP00000384978:R311H	ENSP00000263201:R357H	R	+	2	0	CDC45	17876067	1.000000	0.71417	0.953000	0.39169	0.992000	0.81027	9.357000	0.97099	2.702000	0.92279	0.655000	0.94253	CGC	CDC45	-	pfam_CDC45	ENSG00000093009		0.527	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CDC45	HGNC	protein_coding	OTTHUMT00000317903.1	-	0.00	78	0	G	NM_003504		19496067	+1	tier1	-	no_errors	ENST00000437685	ensembl	human	known	74_37	missense	30.67	51	23	SNP	1.000	A
CDC7	8317	genome.wustl.edu	37	1	91967300	91967300	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:91967300G>T	ENST00000428239.1	+	2	286	c.27G>T	c.(25-27)atG>atT	p.M9I	CDC7_ENST00000430031.2_Missense_Mutation_p.M9I|CDC7_ENST00000234626.6_Missense_Mutation_p.M9I|CDC7_ENST00000497611.1_3'UTR	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	9					cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GGATTCAGATGGATGAGCCAA	0.458											OREG0013599	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													148.0	156.0	154.0					1																	91967300		2203	4300	6503	SO:0001583	missense	0			AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.27G>T	1.37:g.91967300G>T	ENSP00000393139:p.Met9Ile	1286	D3DT31|O00558|Q5T5U5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.M9I	ENST00000428239.1	37	c.27	CCDS734.1	1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123865	0.56613	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239;ENST00000426137	T;T;T;T	0.46819	0.86;1.07;1.07;2.05	5.42	5.42	0.78866	.	0.224693	0.39020	N	0.001491	T	0.15652	0.0377	L	0.27053	0.805	0.27268	N	0.958457	B;B	0.16603	0.008;0.018	B;B	0.14023	0.006;0.01	T	0.04551	-1.0943	10	0.13108	T	0.6	-7.2909	12.2571	0.54629	0.0:0.0:0.8193:0.1807	.	9;9	B7Z5H7;O00311	.;CDC7_HUMAN	I	9	ENSP00000407477:M9I;ENSP00000234626:M9I;ENSP00000393139:M9I;ENSP00000398077:M9I	ENSP00000234626:M9I	M	+	3	0	CDC7	91739888	1.000000	0.71417	0.822000	0.32727	0.951000	0.60555	3.651000	0.54431	2.689000	0.91719	0.591000	0.81541	ATG	CDC7	-	NULL	ENSG00000097046		0.458	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC7	HGNC	protein_coding	OTTHUMT00000027928.1	-	0.00	50	0	G	NM_003503		91967300	+1	tier1	-	no_errors	ENST00000234626	ensembl	human	known	74_37	missense	7.84	46	4	SNP	0.981	T
CDCP2	200008	genome.wustl.edu	37	1	54606938	54606938	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:54606938G>A	ENST00000371330.1	-	3	1443	c.596C>T	c.(595-597)aCc>aTc	p.T199I	RP11-446E24.4_ENST00000525949.1_5'UTR|CDCP2_ENST00000530059.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	199	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GTAGTCATAGGTGCACTCTTC	0.657																																																	0													76.0	69.0	71.0					1																	54606938		2203	4300	6503	SO:0001583	missense	0				CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.596C>T	1.37:g.54606938G>A	ENSP00000360381:p.Thr199Ile		Q6ZWJ3	Missense_Mutation	SNP	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	p.T199I	ENST00000371330.1	37	c.596	CCDS588.2	1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615329	0.46631	.	.	ENSG00000157211	ENST00000371330	T	0.28895	1.59	5.04	1.79	0.24919	CUB (5);	0.554792	0.18007	N	0.154697	T	0.13543	0.0328	N	0.12527	0.23	0.24042	N	0.996079	P	0.34864	0.473	B	0.34991	0.193	T	0.09618	-1.0666	10	0.37606	T	0.19	-13.6981	2.3964	0.04391	0.0932:0.265:0.3233:0.3184	.	199	Q5VXM1	CDCP2_HUMAN	I	199	ENSP00000360381:T199I	ENSP00000360381:T199I	T	-	2	0	CDCP2	54379526	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	2.092000	0.41700	0.661000	0.30985	0.561000	0.74099	ACC	CDCP2	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000157211		0.657	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CDCP2	HGNC	protein_coding	OTTHUMT00000022209.2	-	0.00	32	0	G	NM_201546		54606938	-1	tier1	-	no_errors	ENST00000371330	ensembl	human	novel	74_37	missense	37.84	23	14	SNP	1.000	A
CDC7	8317	genome.wustl.edu	37	1	91978780	91978780	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:91978780G>T	ENST00000428239.1	+	7	997	c.738G>T	c.(736-738)ctG>ctT	p.L246L	CDC7_ENST00000430031.2_Silent_p.L218L|CDC7_ENST00000234626.6_Silent_p.L246L	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	246	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CTAAGGAGCTGGATCAGCAGT	0.418																																																	0													86.0	89.0	88.0					1																	91978780		2203	4300	6503	SO:0001819	synonymous_variant	0			AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.738G>T	1.37:g.91978780G>T			D3DT31|O00558|Q5T5U5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L246	ENST00000428239.1	37	c.738	CCDS734.1	1																																																																																			CDC7	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000097046		0.418	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC7	HGNC	protein_coding	OTTHUMT00000027928.1		0.00	26	0	G	NM_003503		91978780	+1			no_errors	ENST00000234626	ensembl	human	known	74_37	silent	11.43	31	4	SNP	0.004	T
CDH18	1016	genome.wustl.edu	37	5	19543993	19543993	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:19543993T>C	ENST00000507958.1	-	11	2365	c.1375A>G	c.(1375-1377)Act>Gct	p.T459A	CDH18_ENST00000502796.1_Missense_Mutation_p.T459A|CDH18_ENST00000382275.1_Missense_Mutation_p.T459A|CDH18_ENST00000511273.1_Missense_Mutation_p.T459A|CDH18_ENST00000274170.4_Missense_Mutation_p.T459A|CDH18_ENST00000506372.1_Missense_Mutation_p.T459A			Q13634	CAD18_HUMAN	cadherin 18, type 2	459	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTGAAGCAGTGACTGTGATG	0.383																																																	0													151.0	142.0	145.0					5																	19543993		2203	4300	6503	SO:0001583	missense	0			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1375A>G	5.37:g.19543993T>C	ENSP00000425093:p.Thr459Ala		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T459A	ENST00000507958.1	37	c.1375	CCDS3889.1	5	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502767	0.26949	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;2.02;0.09	4.97	2.06	0.26882	Cadherin (4);Cadherin-like (1);	0.435259	0.26324	N	0.025030	T	0.42245	0.1194	L	0.45698	1.435	0.26258	N	0.978622	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.23190	-1.0195	9	.	.	.	.	3.6828	0.08317	0.1721:0.5388:0.0:0.2892	.	459;459	B4DHG6;Q13634	.;CAD18_HUMAN	A	459;459;459;459;459;459;405;459	ENSP00000371710:T459A;ENSP00000425093:T459A;ENSP00000274170:T459A;ENSP00000424931:T459A;ENSP00000422138:T459A;ENSP00000427383:T405A;ENSP00000425854:T459A	.	T	-	1	0	CDH18	19579750	0.428000	0.25522	0.994000	0.49952	0.875000	0.50365	0.292000	0.19011	0.108000	0.17862	0.260000	0.18958	ACT	CDH18	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000145526		0.383	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1	-	0.00	75	0	T	NM_004934		19543993	-1	tier1	-	no_errors	ENST00000274170	ensembl	human	known	74_37	missense	24.36	118	38	SNP	0.987	C
CDH20	28316	genome.wustl.edu	37	18	59166500	59166500	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:59166500G>A	ENST00000262717.4	+	3	726	c.328G>A	c.(328-330)Gac>Aac	p.D110N	CDH20_ENST00000536675.2_Missense_Mutation_p.D110N|CDH20_ENST00000538374.1_Missense_Mutation_p.D110N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	110	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTTTACCATCGACGACACCAC	0.552																																																	0													85.0	66.0	73.0					18																	59166500		2203	4300	6503	SO:0001583	missense	0			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.328G>A	18.37:g.59166500G>A	ENSP00000262717:p.Asp110Asn		Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D110N	ENST00000262717.4	37	c.328	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793652	0.90453	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.62788	-0.0;-0.0;-0.0	5.82	5.82	0.92795	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.73450	0.3588	L	0.41492	1.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67964	-0.5534	10	0.30078	T	0.28	.	20.0851	0.97797	0.0:0.0:1.0:0.0	.	110	Q9HBT6	CAD20_HUMAN	N	110	ENSP00000444767:D110N;ENSP00000442226:D110N;ENSP00000262717:D110N	ENSP00000262717:D110N	D	+	1	0	CDH20	57317480	1.000000	0.71417	0.835000	0.33067	0.904000	0.53231	9.476000	0.97823	2.758000	0.94735	0.650000	0.86243	GAC	CDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000101542		0.552	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	-	0.00	51	0	G	NM_031891		59166500	+1	tier1	-	no_errors	ENST00000262717	ensembl	human	known	74_37	missense	38.78	30	19	SNP	1.000	A
CDHR2	54825	genome.wustl.edu	37	5	176008500	176008500	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:176008500G>A	ENST00000510636.1	+	17	2249	c.1975G>A	c.(1975-1977)Ggc>Agc	p.G659S	CDHR2_ENST00000506348.1_Missense_Mutation_p.G659S|CDHR2_ENST00000261944.5_Missense_Mutation_p.G659S	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	659	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CGCCCTGGAGGGCCGCATTGT	0.622																																																	0													52.0	53.0	52.0					5																	176008500		2203	4300	6503	SO:0001583	missense	0			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1975G>A	5.37:g.176008500G>A	ENSP00000424565:p.Gly659Ser		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G659S	ENST00000510636.1	37	c.1975	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935680	0.92458	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.60797	0.16;0.16;0.16	5.47	5.47	0.80525	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.75961	0.3921	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.75833	-0.3178	9	0.48119	T	0.1	-44.3813	18.9133	0.92494	0.0:0.0:1.0:0.0	.	659	Q9BYE9	CDHR2_HUMAN	S	659	ENSP00000424565:G659S;ENSP00000261944:G659S;ENSP00000421078:G659S	ENSP00000261944:G659S	G	+	1	0	CDHR2	175941106	1.000000	0.71417	0.997000	0.53966	0.655000	0.38815	8.216000	0.89764	2.575000	0.86900	0.549000	0.68633	GGC	CDHR2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000074276		0.622	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	-	0.00	96	0	G	NM_017675		176008500	+1	tier1	-	no_errors	ENST00000261944	ensembl	human	known	74_37	missense	42.39	53	39	SNP	0.997	A
CDHR3	222256	genome.wustl.edu	37	7	105664829	105664829	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:105664829C>T	ENST00000317716.9	+	15	2159	c.2079C>T	c.(2077-2079)ccC>ccT	p.P693P	CDHR3_ENST00000343407.5_Nonsense_Mutation_p.Q196*|CDHR3_ENST00000542731.1_Silent_p.P693P|CDHR3_ENST00000478080.1_Silent_p.P605P|CDHR3_ENST00000470188.1_3'UTR	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	693	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TGTTCAAGCCCAGGGTCACCT	0.478																																																	0													118.0	117.0	117.0					7																	105664829		1994	4174	6168	SO:0001819	synonymous_variant	0			AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2079C>T	7.37:g.105664829C>T			Q8TCI7	Nonsense_Mutation	SNP	superfamily_Cadherin-like,pfscan_Cadherin	p.Q196*	ENST00000317716.9	37	c.586	CCDS47684.1	7	.	.	.	.	.	.	.	.	.	.	C	44	10.641921	0.99443	.	.	ENSG00000128536	ENST00000343407;ENST00000466045	.	.	.	5.65	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9162	4.2102	0.10507	0.1559:0.5583:0.0:0.2857	.	.	.	.	X	196;235	.	ENSP00000341510:Q196X	Q	+	1	0	CDHR3	105452065	0.995000	0.38212	1.000000	0.80357	0.501000	0.33797	0.273000	0.18662	0.328000	0.23435	-0.136000	0.14681	CAG	CDHR3	-	NULL	ENSG00000128536		0.478	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR3	HGNC	protein_coding	OTTHUMT00000349025.2	-	0.00	107	0	C	NM_152750		105664829	+1	tier1	-	no_errors	ENST00000343407	ensembl	human	known	74_37	nonsense	26.32	84	30	SNP	1.000	T
CDK12	51755	genome.wustl.edu	37	17	37650845	37650845	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:37650845C>T	ENST00000447079.4	+	5	2350	c.2317C>T	c.(2317-2319)Cgt>Tgt	p.R773C	CDK12_ENST00000430627.2_Missense_Mutation_p.R773C	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	773	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CACAGCCATTCGTGAAATCAA	0.393			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													85.0	74.0	78.0					17																	37650845		2203	4300	6503	SO:0001583	missense	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2317C>T	17.37:g.37650845C>T	ENSP00000398880:p.Arg773Cys		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R773C	ENST00000447079.4	37	c.2317	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	C	19.40	3.819885	0.71028	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.53857	0.6;0.6	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49305	D	0.000149	T	0.81781	0.4895	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.87298	0.2303	10	0.87932	D	0	-8.3609	19.1644	0.93548	0.0:1.0:0.0:0.0	.	772;773;773	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	C	773	ENSP00000407720:R773C;ENSP00000398880:R773C	ENSP00000407720:R773C	R	+	1	0	CDK12	34904371	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.204000	0.72143	2.601000	0.87937	0.561000	0.74099	CGT	CDK12	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000167258		0.393	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	-	0.00	42	0	C	NM_016507		37650845	+1	tier1	-	no_errors	ENST00000447079	ensembl	human	known	74_37	missense	39.47	23	15	SNP	1.000	T
CDK18	5129	genome.wustl.edu	37	1	205501330	205501330	+	3'UTR	SNP	T	T	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:205501330T>G	ENST00000360066.2	+	0	2550				CDK18_ENST00000509056.1_3'UTR	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18								ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CCCTTGGAGCTGTGACCGGCT	0.617																																					Pancreas(180;489 2072 28461 40831 44265)												0																																										SO:0001624	3_prime_UTR_variant	0			X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.*824T>G	1.37:g.205501330T>G			Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	RNA	SNP	-	NULL	ENST00000360066.2	37	NULL	CCDS44300.1	1																																																																																			CDK18	-	-	ENSG00000117266		0.617	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK18	HGNC	protein_coding	OTTHUMT00000090407.2	-	0.00	37	0	T	NM_002596		205501330	+1	tier1	-	no_errors	ENST00000509056	ensembl	human	known	74_37	rna	22.22	35	10	SNP	0.000	G
CDK5RAP2	55755	genome.wustl.edu	37	9	123223027	123223028	+	Intron	DEL	TT	TT	-	rs552805136|rs74758129		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:123223027_123223028delTT	ENST00000349780.4	-	19	2286				CDK5RAP2_ENST00000360822.3_Intron|CDK5RAP2_ENST00000360190.4_Intron|CDK5RAP2_ENST00000359309.3_Intron	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2						brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAGTGATGTCTTTTTTTTTTTA	0.356																																																	0																																										SO:0001627	intron_variant	0			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2107-82AA>-	9.37:g.123223035_123223036delTT			Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Splice_Site	DEL	-	e19-2	ENST00000349780.4	37	c.2104-3_2104-2	CCDS6823.1	9																																																																																			CDK5RAP2	-	-	ENSG00000136861		0.356	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1		0.00	50	0	TT	NM_018249		123223028	-1	tier1		no_errors	ENST00000480112	ensembl	human	known	74_37	splice_site_del	25.71	26	9	DEL	0.979:0.982	-
CDKAL1	54901	genome.wustl.edu	37	6	20955679	20955679	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:20955679G>T	ENST00000378610.1	+	8	782	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	CDKAL1_ENST00000378624.4_Nonsense_Mutation_p.E188*|CDKAL1_ENST00000274695.4_Nonsense_Mutation_p.E258*			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	258					maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GTTGACCAGTGAAGACACGGG	0.473																																																	0													132.0	128.0	129.0					6																	20955679		2203	4300	6503	SO:0001587	stop_gained	0			AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.772G>T	6.37:g.20955679G>T	ENSP00000367873:p.Glu258*		A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Nonsense_Mutation	SNP	pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase	p.E258*	ENST00000378610.1	37	c.772	CCDS4546.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.514094	0.98332	.	.	ENSG00000145996	ENST00000274695;ENST00000378624;ENST00000378610	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9959	0.92812	0.0:0.0:1.0:0.0	.	.	.	.	X	258;188;258	.	ENSP00000274695:E258X	E	+	1	0	CDKAL1	21063658	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.199000	0.95003	2.472000	0.83506	0.650000	0.86243	GAA	CDKAL1	-	pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase	ENSG00000145996		0.473	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKAL1	HGNC	protein_coding	OTTHUMT00000039986.1	-	0.00	59	0	G	NM_017774		20955679	+1	tier1	-	no_errors	ENST00000274695	ensembl	human	known	74_37	nonsense	5.56	68	4	SNP	1.000	T
CDR2L	30850	genome.wustl.edu	37	17	72999572	72999572	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:72999572G>A	ENST00000337231.5	+	5	1213	c.801G>A	c.(799-801)ccG>ccA	p.P267P		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	267												all_lung(278;0.226)					TACTGGGTCCGGACGACCACC	0.706																																																	0													26.0	19.0	22.0					17																	72999572		2181	4265	6446	SO:0001819	synonymous_variant	0				CCDS11710.2	17q25.1	2006-03-28			ENSG00000109089	ENSG00000109089			29999	protein-coding gene	gene with protein product	"""paraneoplastic antigen"""						Standard	NM_014603		Approved	HUMPPA	uc002jml.4	Q86X02	OTTHUMG00000150435	ENST00000337231.5:c.801G>A	17.37:g.72999572G>A			B4DFA7|Q15175	Silent	SNP	NULL	p.P267	ENST00000337231.5	37	c.801	CCDS11710.2	17																																																																																			CDR2L	-	NULL	ENSG00000109089		0.706	CDR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR2L	HGNC	protein_coding	OTTHUMT00000318080.1	-	0.00	60	0	G	NM_014603		72999572	+1	tier1	-	no_errors	ENST00000337231	ensembl	human	known	74_37	silent	42.59	31	23	SNP	0.892	A
CDS2	8760	genome.wustl.edu	37	20	5170988	5170991	+	3'UTR	DEL	TTTT	TTTT	-	rs11477708		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:5170988_5170991delTTTT	ENST00000460006.1	+	0	1753_1756				CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_3'UTR|CDS2_ENST00000535100.1_3'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2						CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						ACTCACTGTCTTTTTTTTTTTTTT	0.412																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.*111TTTT>-	20.37:g.5170996_5170999delTTTT			B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	RNA	DEL	-	NULL	ENST00000460006.1	37	NULL	CCDS13088.1	20																																																																																			CDS2	-	-	ENSG00000101290		0.412	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CDS2	HGNC	protein_coding	OTTHUMT00000077858.2		0.00	66	0	TTTT			5170991	+1	tier1		no_errors	ENST00000379070	ensembl	human	known	74_37	rna	33.90	39	20	DEL	0.003:0.004:0.004:0.002	-
CDX2	1045	genome.wustl.edu	37	13	28539139	28539139	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:28539139C>T	ENST00000381020.7	-	2	2687	c.555G>A	c.(553-555)acG>acA	p.T185T	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	185					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|endosome to lysosome transport (GO:0008333)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		ATTTGTCTTTCGTCCTGGTTT	0.537			T	ETV6	AML																																			Dom	yes		13	13q12.3	1045	caudal type homeo box transcription factor 2		L	0													74.0	60.0	64.0					13																	28539139		2203	4300	6503	SO:0001819	synonymous_variant	0			Y13709	CCDS9328.1	13q12.2	2012-03-09	2007-07-09		ENSG00000165556	ENSG00000165556		"""Homeoboxes / ANTP class : HOXL subclass"""	1806	protein-coding gene	gene with protein product		600297	"""caudal type homeo box transcription factor 2"""	CDX3		7698771	Standard	NM_001265		Approved		uc001urv.4	Q99626	OTTHUMG00000016640	ENST00000381020.7:c.555G>A	13.37:g.28539139C>T			O00503|Q5VTU7|Q969L8|Q9UD92	Silent	SNP	pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.T185	ENST00000381020.7	37	c.555	CCDS9328.1	13	.	.	.	.	.	.	.	.	.	.	C	10.87	1.473454	0.26423	.	.	ENSG00000165556	ENST00000548877	.	.	.	5.68	1.48	0.22813	.	.	.	.	.	T	0.52289	0.1725	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43475	-0.9389	4	.	.	.	-35.2473	5.838	0.18617	0.1314:0.575:0.0:0.2936	.	.	.	.	Q	28	.	.	R	-	2	0	CDX2	27437139	0.194000	0.23325	1.000000	0.80357	0.998000	0.95712	-0.381000	0.07417	0.734000	0.32515	0.563000	0.77884	CGA	CDX2	-	superfamily_Homeodomain-like,pfscan_Homeobox_dom	ENSG00000165556		0.537	CDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDX2	HGNC	protein_coding	OTTHUMT00000044312.5	-	0.00	84	0	C			28539139	-1	tier1	-	no_errors	ENST00000381020	ensembl	human	known	74_37	silent	49.06	54	52	SNP	0.998	T
CEACAM18	729767	genome.wustl.edu	37	19	51981849	51981849	+	5'Flank	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:51981849G>A	ENST00000396477.4	+	0	0				CEACAM18_ENST00000451626.1_Missense_Mutation_p.A46T	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18											breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGAGGAGGTGGCTGTGTCTCT	0.647																																																	0													28.0	33.0	31.0					19																	51981849		1989	4153	6142	SO:0001631	upstream_gene_variant	0					19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9			19.37:g.51981849G>A	Exception_encountered		C9JN24	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A46T	ENST00000396477.4	37	c.136		19	.	.	.	.	.	.	.	.	.	.	.	15.38	2.814999	0.50527	.	.	ENSG00000213822	ENST00000451626	T	0.07444	3.19	2.41	-1.19	0.09585	.	.	.	.	.	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.46748	-0.9169	9	0.10377	T	0.69	.	2.4638	0.04547	0.2874:0.0:0.4799:0.2327	.	46	A8MTB9	CEA18_HUMAN	T	46	ENSP00000402203:A46T	ENSP00000402203:A46T	A	+	1	0	CEACAM18	56673661	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.940000	0.03929	-0.145000	0.11294	0.655000	0.94253	GCT	CEACAM18	-	NULL	ENSG00000213822		0.647	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	CEACAM18	HGNC	protein_coding	OTTHUMT00000323114.2	-	0.00	64	0	G			51981849	+1	tier1	-	no_errors	ENST00000451626	ensembl	human	known	74_37	missense	40.43	28	19	SNP	0.000	A
CECR6	27439	genome.wustl.edu	37	22	17600401	17600401	+	Silent	SNP	G	G	A	rs377470319		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:17600401G>A	ENST00000331437.3	-	1	1742	c.1617C>T	c.(1615-1617)tcC>tcT	p.S539S	CECR6_ENST00000399875.1_Silent_p.S184S|AC006946.15_ENST00000441544.1_5'Flank	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	539										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GTGGAGGGGCGGAGGGCGGAG	0.721													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11896	0.0		0.0	False		,,,				2504	0.0																0								G	,	4,4380		0,4,2188	12.0	12.0	12.0		552,1617	-8.5	0.0	22		12	0,8558		0,0,4279	no	coding-synonymous,coding-synonymous	CECR6	NM_001163079.1,NM_031890.3	,	0,4,6467	AA,AG,GG		0.0,0.0912,0.0309	,	184/224,539/579	17600401	4,12938	2192	4279	6471	SO:0001819	synonymous_variant	0			AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.1617C>T	22.37:g.17600401G>A			A8MYY1	Silent	SNP	NULL	p.S539	ENST00000331437.3	37	c.1617	CCDS13740.1	22																																																																																			CECR6	-	NULL	ENSG00000183307		0.721	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	CECR6	HGNC	protein_coding	OTTHUMT00000075359.4	-	0.00	36	0	G	NM_031890		17600401	-1	tier1	-	no_errors	ENST00000331437	ensembl	human	known	74_37	silent	43.24	21	16	SNP	0.000	A
CECR2	27443	genome.wustl.edu	37	22	18028458	18028458	+	Missense_Mutation	SNP	A	A	G	rs554572738		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:18028458A>G	ENST00000400585.2	+	17	3427	c.2989A>G	c.(2989-2991)Agg>Ggg	p.R997G	CECR2_ENST00000262608.8_Missense_Mutation_p.R1140G|CECR2_ENST00000400573.5_Missense_Mutation_p.R1139G			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1181					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TTTTCCCCCAAGGGGCTTTCA	0.587													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17373	0.0		0.0	False		,,,				2504	0.0																0													51.0	53.0	53.0					22																	18028458		1911	4117	6028	SO:0001583	missense	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2989A>G	22.37:g.18028458A>G	ENSP00000383428:p.Arg997Gly		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.R1139G	ENST00000400585.2	37	c.3415		22	.	.	.	.	.	.	.	.	.	.	A	2.872	-0.233757	0.05983	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.35605	1.41;1.41;1.3	4.02	-1.16	0.09678	.	0.119263	0.35677	N	0.003048	T	0.32346	0.0826	M	0.67953	2.075	0.09310	N	1	B;B;B	0.21753	0.06;0.022;0.06	B;B;B	0.17433	0.018;0.011;0.018	T	0.37596	-0.9699	10	0.66056	D	0.02	-13.8646	9.9786	0.41800	0.2369:0.6697:0.0934:0.0	.	1181;997;1139	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	G	997;1139;1140	ENSP00000383428:R997G;ENSP00000383417:R1139G;ENSP00000262608:R1140G	ENSP00000262608:R1140G	R	+	1	2	CECR2	16408458	0.477000	0.25909	0.040000	0.18447	0.039000	0.13416	0.931000	0.28871	-0.058000	0.13177	0.459000	0.35465	AGG	CECR2	-	NULL	ENSG00000099954		0.587	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	-	0.00	35	0	A	NM_031413		18028458	+1	tier1	-	no_errors	ENST00000400573	ensembl	human	novel	74_37	missense	27.27	24	9	SNP	0.017	G
CELF2	10659	genome.wustl.edu	37	10	11207539	11207539	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:11207539C>T	ENST00000379261.4	+	2	236	c.144C>T	c.(142-144)ccC>ccT	p.P48P	CELF2_ENST00000609692.1_Silent_p.P24P|CELF2_ENST00000354897.3_Silent_p.P24P|CELF2_ENST00000608830.1_Silent_p.P24P|CELF2_ENST00000416382.2_Silent_p.P48P|CELF2_ENST00000315874.4_Silent_p.P24P|CELF2_ENST00000417956.2_Silent_p.P24P|CELF2_ENST00000427450.1_Silent_p.P24P|CELF2_ENST00000542579.1_Silent_p.P55P|CELF2_ENST00000354440.2_Silent_p.P24P|CELF2_ENST00000399850.3_Silent_p.P24P|CELF2_ENST00000450189.1_Silent_p.P55P|CELF2_ENST00000537122.1_5'UTR	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	48	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GACAGATCCCCCGGTCATGGT	0.522																																																	0													99.0	104.0	103.0					10																	11207539		1945	4150	6095	SO:0001819	synonymous_variant	0			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.144C>T	10.37:g.11207539C>T			B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.P55	ENST00000379261.4	37	c.165	CCDS44354.1	10																																																																																			CELF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	ENSG00000048740		0.522	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	HGNC	protein_coding		-	0.00	54	0	C			11207539	+1	tier1	-	no_errors	ENST00000450189	ensembl	human	known	74_37	silent	34.21	25	13	SNP	1.000	T
CELF2	10659	genome.wustl.edu	37	10	11291153	11291153	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:11291153delA	ENST00000379261.4	+	4	463	c.371delA	c.(370-372)gaafs	p.E124fs	CELF2_ENST00000609692.1_Frame_Shift_Del_p.E100fs|CELF2_ENST00000354897.3_Frame_Shift_Del_p.E100fs|CELF2_ENST00000608830.1_Frame_Shift_Del_p.E100fs|CELF2_ENST00000416382.2_Frame_Shift_Del_p.E124fs|CELF2_ENST00000315874.4_Frame_Shift_Del_p.E100fs|CELF2_ENST00000417956.2_Frame_Shift_Del_p.E100fs|CELF2_ENST00000427450.1_Frame_Shift_Del_p.E100fs|CELF2_ENST00000542579.1_Frame_Shift_Del_p.E131fs|CELF2_ENST00000354440.2_Frame_Shift_Del_p.E100fs|CELF2_ENST00000399850.3_Frame_Shift_Del_p.E100fs|CELF2_ENST00000450189.1_Frame_Shift_Del_p.E131fs|CELF2_ENST00000537122.1_Frame_Shift_Del_p.E13fs	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	124	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GCAGATAGTGAAAAGTCCAAC	0.408																																																	0													141.0	130.0	134.0					10																	11291153		1856	4100	5956	SO:0001589	frameshift_variant	0			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.371delA	10.37:g.11291153delA	ENSP00000368563:p.Glu124fs		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.K132fs	ENST00000379261.4	37	c.392	CCDS44354.1	10																																																																																			CELF2	-	NULL	ENSG00000048740		0.408	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	HGNC	protein_coding			0.00	57	0	A			11291153	+1	tier1		no_errors	ENST00000450189	ensembl	human	known	74_37	frame_shift_del	38.00	31	19	DEL	1.000	-
CELP	1057	genome.wustl.edu	37	9	135962433	135962433	+	RNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:135962433G>A	ENST00000411440.2	+	0	940					NR_001275.2				carboxyl ester lipase pseudogene																		GTCTGCCCCCGTCCCTGCAAC	0.667																																																	0																																												0			L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962433G>A				RNA	SNP	-	NULL	ENST00000411440.2	37	NULL		9																																																																																			CELP	-	-	ENSG00000170827		0.667	CELP-002	KNOWN	basic	processed_transcript	CELP	HGNC	pseudogene	OTTHUMT00000339837.1	-	0.00	24	0	G	NM_001808		135962433	+1	tier1	-	no_errors	ENST00000411440	ensembl	human	known	74_37	rna	31.82	15	7	SNP	0.000	A
CELSR2	1952	genome.wustl.edu	37	1	109812405	109812405	+	Missense_Mutation	SNP	C	C	T	rs371466342		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:109812405C>T	ENST00000271332.3	+	22	7131	c.7070C>T	c.(7069-7071)aCg>aTg	p.T2357M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2357	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AACCACATGACGAGCTTCGCT	0.657																																					NSCLC(158;1285 2011 34800 34852 42084)												0								C	MET/THR	0,4406		0,0,2203	107.0	112.0	110.0		7070	4.0	1.0	1		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	CELSR2	NM_001408.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2357/2924	109812405	1,13005	2203	4300	6503	SO:0001583	missense	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7070C>T	1.37:g.109812405C>T	ENSP00000271332:p.Thr2357Met		Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.T2357M	ENST00000271332.3	37	c.7070	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439663	0.63067	0.0	1.16E-4	ENSG00000143126	ENST00000271332	D	0.82344	-1.6	3.95	3.95	0.45737	GPS domain (3);	.	.	.	.	D	0.90693	0.7080	M	0.90977	3.165	0.42957	D	0.994394	D	0.89917	1.0	D	0.75484	0.986	D	0.91905	0.5535	9	0.56958	D	0.05	.	12.8493	0.57848	0.0:0.8348:0.1652:0.0	.	2357	Q9HCU4	CELR2_HUMAN	M	2357	ENSP00000271332:T2357M	ENSP00000271332:T2357M	T	+	2	0	CELSR2	109613928	0.491000	0.26019	0.997000	0.53966	0.946000	0.59487	1.057000	0.30492	2.033000	0.60031	0.462000	0.41574	ACG	CELSR2	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000143126		0.657	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	-	0.00	36	0	C	NM_001408		109812405	+1	tier1	-	no_errors	ENST00000271332	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	T
CELSR2	1952	genome.wustl.edu	37	1	109816043	109816043	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:109816043C>T	ENST00000271332.3	+	33	8570				CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2						cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCACAGCCCCGCCCCGGCCC	0.642																																					NSCLC(158;1285 2011 34800 34852 42084)												0													13.0	17.0	15.0					1																	109816043		2200	4298	6498	SO:0001627	intron_variant	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.8510-15C>T	1.37:g.109816043C>T			Q5T2Y7|Q92566	RNA	SNP	-	NULL	ENST00000271332.3	37	NULL	CCDS796.1	1																																																																																			CELSR2	-	-	ENSG00000143126		0.642	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	-	0.00	44	0	C	NM_001408		109816043	+1	tier1	-	no_errors	ENST00000498157	ensembl	human	known	74_37	rna	28.33	43	17	SNP	0.232	T
CELSR3	1951	genome.wustl.edu	37	3	48697857	48697858	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:48697857_48697858delAG	ENST00000164024.4	-	1	2490_2491	c.2210_2211delCT	c.(2209-2211)tctfs	p.S737fs	CELSR3_ENST00000544264.1_Frame_Shift_Del_p.S737fs	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	737	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGCTGAGGCAGAGAGTGGGGG	0.564																																																	0																																										SO:0001589	frameshift_variant	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2210_2211delCT	3.37:g.48697861_48697862delAG	ENSP00000164024:p.Ser737fs		O75092	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.S737fs	ENST00000164024.4	37	c.2211_2210	CCDS2775.1	3																																																																																			CELSR3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000008300		0.564	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1		0.00	60	0	AG	NM_001407		48697858	-1	tier1		no_errors	ENST00000544264	ensembl	human	known	74_37	frame_shift_del	23.40	36	11	DEL	0.098:1.000	-
CEND1	51286	genome.wustl.edu	37	11	788130	788130	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:788130delT	ENST00000330106.4	-	2	622	c.447delA	c.(445-447)aaafs	p.K149fs	CEND1_ENST00000524587.1_5'Flank	NM_016564.3	NP_057648.2	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	149					adult walking behavior (GO:0007628)|cerebellar granular layer maturation (GO:0021686)|cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|radial glia guided migration of cerebellar granule cell (GO:0021933)	integral component of membrane (GO:0016021)				prostate(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGGTATTATTTTTTCCGGA	0.607																																																	0													11.0	12.0	11.0					11																	788130		2189	4286	6475	SO:0001589	frameshift_variant	0			AK074547	CCDS7714.1	11p15.5	2006-06-14			ENSG00000184524	ENSG00000184524			24153	protein-coding gene	gene with protein product		608213				11311134	Standard	NM_016564		Approved	FLJ90066, BM88	uc001lrh.1	Q8N111	OTTHUMG00000133308	ENST00000330106.4:c.447delA	11.37:g.788130delT	ENSP00000328336:p.Lys149fs		Q9NYM6	Frame_Shift_Del	DEL	NULL	p.K149fs	ENST00000330106.4	37	c.447	CCDS7714.1	11																																																																																			CEND1	-	NULL	ENSG00000184524		0.607	CEND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEND1	HGNC	protein_coding	OTTHUMT00000257105.1		0.00	24	0	T	NM_016564		788130	-1	tier1		no_errors	ENST00000330106	ensembl	human	known	74_37	frame_shift_del	52.17	11	12	DEL	0.985	-
CEP290	80184	genome.wustl.edu	37	12	88487681	88487681	+	Frame_Shift_Del	DEL	T	T	-	rs386834154		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:88487681delT	ENST00000552810.1	-	28	3518	c.3175delA	c.(3175-3177)atafs	p.I1059fs	CEP290_ENST00000547691.2_Frame_Shift_Del_p.I119fs|CEP290_ENST00000397838.3_Frame_Shift_Del_p.I119fs|CEP290_ENST00000309041.7_Frame_Shift_Del_p.I1061fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1059					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AGCATAGTTATTTTTTTTGAA	0.338																																																	0			GRCh37	CD073593	CEP290	D							60.0	59.0	59.0					12																	88487681		1842	4093	5935	SO:0001589	frameshift_variant	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3175delA	12.37:g.88487681delT	ENSP00000448012:p.Ile1059fs		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Del	DEL	NULL	p.I1061fs	ENST00000552810.1	37	c.3181	CCDS55858.1	12																																																																																			CEP290	-	NULL	ENSG00000198707		0.338	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1		0.00	43	0	T	NM_025114		88487681	-1	tier1		no_errors	ENST00000309041	ensembl	human	known	74_37	frame_shift_del	27.87	44	17	DEL	1.000	-
CEPT1	10390	genome.wustl.edu	37	1	111703576	111703578	+	Intron	DEL	AAA	AAA	-	rs571497696	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:111703576_111703578delAAA	ENST00000545121.1	+	4	695				CEPT1_ENST00000357172.4_Intron	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1						CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	GTGATTTGGTAAAAAAAAAAAAA	0.3																																																	0																																										SO:0001627	intron_variant	0			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.488-199AAA>-	1.37:g.111703585_111703587delAAA			Q69YJ9|Q9P0Y8	RNA	DEL	-	NULL	ENST00000545121.1	37	NULL	CCDS830.1	1																																																																																			CEPT1	-	-	ENSG00000134255		0.300	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEPT1	HGNC	protein_coding	OTTHUMT00000034462.2		0.00	19	0	AAA	NM_006090		111703578	+1	tier1		no_errors	ENST00000480324	ensembl	human	known	74_37	rna	22.22	14	4	DEL	0.207:0.326:0.318	-
CEP350	9857	genome.wustl.edu	37	1	179993623	179993623	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:179993623T>C	ENST00000367607.3	+	14	3874	c.3456T>C	c.(3454-3456)gtT>gtC	p.V1152V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1152	Ser-rich.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTGTGGATGTTACCTCCCAGC	0.418																																																	0													110.0	95.0	100.0					1																	179993623		2203	4300	6503	SO:0001819	synonymous_variant	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3456T>C	1.37:g.179993623T>C			O75068|Q8TDK3|Q8WY20	Silent	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.V1152	ENST00000367607.3	37	c.3456	CCDS1336.1	1																																																																																			CEP350	-	NULL	ENSG00000135837		0.418	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	-	0.00	42	0	T	NM_014810		179993623	+1	tier1	-	no_errors	ENST00000367607	ensembl	human	known	74_37	silent	19.32	71	17	SNP	0.004	C
CERK	64781	genome.wustl.edu	37	22	47095243	47095243	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:47095243G>A	ENST00000216264.8	-	8	1022	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	CERK_ENST00000541677.1_Missense_Mutation_p.R106W	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	304					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCCAACCACCGTTTCTTCTCA	0.547																																																	0													232.0	168.0	189.0					22																	47095243		2203	4300	6503	SO:0001583	missense	0			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.910C>T	22.37:g.47095243G>A	ENSP00000216264:p.Arg304Trp		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.R304W	ENST00000216264.8	37	c.910	CCDS14077.1	22	.	.	.	.	.	.	.	.	.	.	g	15.77	2.931753	0.52866	.	.	ENSG00000100422	ENST00000216264;ENST00000541677	T;T	0.55930	0.49;0.49	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85054	0.0930	10	0.87932	D	0	-14.1435	17.0797	0.86595	0.0:0.0:1.0:0.0	.	304	Q8TCT0	CERK1_HUMAN	W	304;106	ENSP00000216264:R304W;ENSP00000438659:R106W	ENSP00000216264:R304W	R	-	1	2	CERK	45473907	1.000000	0.71417	1.000000	0.80357	0.249000	0.25844	4.443000	0.59994	2.370000	0.80446	0.655000	0.94253	CGG	CERK	-	NULL	ENSG00000100422		0.547	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2	-	0.00	94	0	G	NM_022766		47095243	-1	tier1	-	no_errors	ENST00000216264	ensembl	human	known	74_37	missense	47.06	36	32	SNP	1.000	A
CERS2	29956	genome.wustl.edu	37	1	150937767	150937767	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:150937767delT	ENST00000271688.6	-	0	2386				CERS2_ENST00000561294.1_Intron|CERS2_ENST00000345896.4_5'UTR|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_3'UTR|RP11-316M1.12_ENST00000560481.1_RNA	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2						ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										aatcttttaatttttaaaaaa	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.*857A>-	1.37:g.150937767delT			D3DV06|Q5SZE5|Q9HD96|Q9NW79	RNA	DEL	-	NULL	ENST00000271688.6	37	NULL	CCDS973.1	1																																																																																			CERS2	-	-	ENSG00000143418		0.323	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CERS2	HGNC	protein_coding	OTTHUMT00000084897.2		0.00	14	0	T	NM_022075		150937767	-1	tier1		no_errors	ENST00000345896	ensembl	human	known	74_37	rna	36.59	26	15	DEL	1.000	-
CES1	1066	genome.wustl.edu	37	16	55857578	55857578	+	Silent	SNP	G	G	A	rs373389314		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:55857578G>A	ENST00000361503.4	-	4	550	c.420C>T	c.(418-420)caC>caT	p.H140H	CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Silent_p.H141H|CES1_ENST00000422046.2_Silent_p.H140H			P23141	EST1_HUMAN	carboxylesterase 1	140					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.H141H(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	GCCCCCCTCCGTGGATCCACA	0.562																																					NSCLC(162;1801 2756 42904 52896)												1	Substitution - coding silent(1)	large_intestine(1)						G	,,	2,4390		0,2,2194	64.0	58.0	60.0		420,423,420	-7.7	0.7	16		60	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	CES1	NM_001025194.1,NM_001025195.1,NM_001266.4	,,	0,2,6492	AA,AG,GG		0.0,0.0455,0.0154	,,	140/568,141/569,140/567	55857578	2,12986	2196	4298	6494	SO:0001819	synonymous_variant	0			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.420C>T	16.37:g.55857578G>A			A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.H141	ENST00000361503.4	37	c.423	CCDS45488.1	16																																																																																			CES1	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000198848		0.562	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	-	0.00	491	0	G	NM_001266		55857578	-1	tier1	-	no_errors	ENST00000360526	ensembl	human	known	74_37	silent	25.64	319	110	SNP	0.907	A
CES5A	221223	genome.wustl.edu	37	16	55903619	55903619	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:55903619C>T	ENST00000290567.9	-	4	576	c.455G>A	c.(454-456)gGc>gAc	p.G152D	CES5A_ENST00000319165.9_Missense_Mutation_p.G152D|CES5A_ENST00000518005.1_Missense_Mutation_p.G46D|CES5A_ENST00000520435.1_Missense_Mutation_p.G122D|CES5A_ENST00000521992.1_Missense_Mutation_p.G181D|CES5A_ENST00000541580.1_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	152						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGAGGCTGAGCCAGTCTTGAA	0.582																																																	0													72.0	52.0	58.0					16																	55903619		2198	4300	6498	SO:0001583	missense	0			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.455G>A	16.37:g.55903619C>T	ENSP00000290567:p.Gly152Asp		B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.G181D	ENST00000290567.9	37	c.542	CCDS45490.1	16	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388787	0.61956	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000536025	T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99;-0.99	4.94	4.94	0.65067	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000012	D	0.89504	0.6734	M	0.94101	3.495	0.50632	D	0.99988	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.92097	0.5685	10	0.72032	D	0.01	.	16.0398	0.80654	0.0:1.0:0.0:0.0	.	152;152	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	D	181;152;46;152;122;46	ENSP00000428864:G181D;ENSP00000324271:G152D;ENSP00000428571:G46D;ENSP00000290567:G152D;ENSP00000428887:G122D;ENSP00000439810:G46D	ENSP00000290567:G152D	G	-	2	0	CES5A	54461120	0.999000	0.42202	0.998000	0.56505	0.046000	0.14306	6.884000	0.75600	2.440000	0.82611	0.557000	0.71058	GGC	CES5A	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000159398		0.582	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES5A	HGNC	protein_coding	OTTHUMT00000256975.3	-	0.00	55	0	C	NM_145024		55903619	-1	tier1	-	no_errors	ENST00000521992	ensembl	human	known	74_37	missense	30.00	35	15	SNP	0.961	T
CETN3	1070	genome.wustl.edu	37	5	89701581	89701581	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:89701581delT	ENST00000283122.3	-	3	313	c.189delA	c.(187-189)aaafs	p.K63fs	CETN3_ENST00000522842.1_Frame_Shift_Del_p.K63fs|CETN3_ENST00000522864.1_Frame_Shift_Del_p.K63fs|CETN3_ENST00000522565.1_Frame_Shift_Del_p.K63fs|CETN3_ENST00000522083.1_Frame_Shift_Del_p.K63fs	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	63	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome cycle (GO:0007098)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|photoreceptor connecting cilium (GO:0032391)	calcium ion binding (GO:0005509)			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		GTACATCAGCTTTTTTTACAT	0.308																																																	0													96.0	95.0	96.0					5																	89701581		2202	4299	6501	SO:0001589	frameshift_variant	0			Y12473	CCDS4066.1, CCDS75274.1	5q14.3	2013-01-10	2010-06-24		ENSG00000153140	ENSG00000153140		"""EF-hand domain containing"""	1868	protein-coding gene	gene with protein product	"""CDC31 yeast homolog"", ""EF-hand superfamily member"""	602907	"""centrin, EF-hand protein, 3 (CDC31 yeast homolog)"""			9256449	Standard	XM_006714521		Approved	CEN3	uc003kjo.3	O15182	OTTHUMG00000131326	ENST00000283122.3:c.189delA	5.37:g.89701581delT	ENSP00000283122:p.Lys63fs		Q53YD2|Q9BS23	Frame_Shift_Del	DEL	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.A64fs	ENST00000283122.3	37	c.189	CCDS4066.1	5																																																																																			CETN3	-	pfscan_EF_hand_dom	ENSG00000153140		0.308	CETN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CETN3	HGNC	protein_coding	OTTHUMT00000254097.1		0.00	66	0	T	NM_004365		89701581	-1	tier1		no_errors	ENST00000283122	ensembl	human	known	74_37	frame_shift_del	30.59	59	26	DEL	1.000	-
CGN	57530	genome.wustl.edu	37	1	151491588	151491588	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:151491588G>T	ENST00000271636.7	+	2	726	c.593G>T	c.(592-594)gGc>gTc	p.G198V		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	192	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGTCGGACTGGCCGCCGAACA	0.617																																																	0													83.0	95.0	91.0					1																	151491588		2203	4300	6503	SO:0001583	missense	0			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.593G>T	1.37:g.151491588G>T	ENSP00000271636:p.Gly198Val		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	pfam_Myosin_tail	p.G198V	ENST00000271636.7	37	c.593	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849319	0.51270	.	.	ENSG00000143375	ENST00000427934;ENST00000271636	T;T	0.74421	0.49;-0.84	5.18	5.18	0.71444	.	0.400222	0.28796	N	0.014113	T	0.79534	0.4462	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.78427	-0.2208	9	.	.	.	-28.2604	12.1803	0.54208	0.0:0.1715:0.8285:0.0	.	192	Q9P2M7	CING_HUMAN	V	198	ENSP00000410836:G198V;ENSP00000271636:G198V	.	G	+	2	0	CGN	149758212	1.000000	0.71417	0.998000	0.56505	0.110000	0.19582	3.853000	0.55941	2.873000	0.98535	0.561000	0.74099	GGC	CGN	-	NULL	ENSG00000143375		0.617	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3		0.00	42	0	G	NM_020770		151491588	+1			no_errors	ENST00000271636	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
CHAF1A	10036	genome.wustl.edu	37	19	4409561	4409564	+	Frame_Shift_Del	DEL	CCTT	CCTT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CCTT	CCTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4409561_4409564delCCTT	ENST00000301280.5	+	3	866_869	c.765_768delCCTT	c.(763-768)tcccttfs	p.SL255fs		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	255	Binds to CBX1 chromo shadow domain.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AAATCAAGTCCCTTCCAGCCACAC	0.549								Chromatin Structure																																									0																																										SO:0001589	frameshift_variant	0			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.765_768delCCTT	19.37:g.4409561_4409564delCCTT	ENSP00000301280:p.Ser255fs		Q6NXG5|Q7Z7K3|Q9UJY8	Frame_Shift_Del	DEL	pfam_CAF1A	p.L256fs	ENST00000301280.5	37	c.765_768	CCDS32875.1	19																																																																																			CHAF1A	-	NULL	ENSG00000167670		0.549	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	HGNC	protein_coding	OTTHUMT00000458310.2		0.00	62	0	CCTT	NM_005483		4409564	+1	tier1		no_errors	ENST00000301280	ensembl	human	known	74_37	frame_shift_del	27.27	32	12	DEL	0.006:0.007:0.000:0.000	-
CHAT	1103	genome.wustl.edu	37	10	50827789	50827789	+	Missense_Mutation	SNP	G	G	A	rs201479289		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:50827789G>A	ENST00000337653.2	+	3	559	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000339797.1_Missense_Mutation_p.V18M|CHAT_ENST00000395562.2_Missense_Mutation_p.V54M|CHAT_ENST00000455728.2_Missense_Mutation_p.V18M|CHAT_ENST00000395559.2_Missense_Mutation_p.V18M|CHAT_ENST00000351556.3_Missense_Mutation_p.V18M	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	136					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CAAACTGCCCGTGCCCCCGCT	0.582																																																	0								G	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	0,4406		0,0,2203	53.0	42.0	46.0		52,160,52,406,52,52,52	5.1	1.0	10		46	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense,missense,missense	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	21,21,21,21,21,21,21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	18/631,54/667,18/631,136/749,18/631,18/631,18/631	50827789	2,13004	2203	4300	6503	SO:0001583	missense	0			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.406G>A	10.37:g.50827789G>A	ENSP00000337103:p.Val136Met		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.V136M	ENST00000337653.2	37	c.406	CCDS7232.1	10	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595887	0.46318	0.0	2.33E-4	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17;-3.17	5.09	5.09	0.68999	.	0.133960	0.50627	D	0.000118	D	0.97816	0.9283	H	0.95437	3.67	0.48632	D	0.999688	D;D	0.89917	1.0;1.0	D;D	0.80764	0.986;0.994	D	0.99164	1.0862	10	0.87932	D	0	-23.853	18.4848	0.90824	0.0:0.0:1.0:0.0	.	18;136	F8W8I2;P28329	.;CLAT_HUMAN	M	18;18;18;136;54;18	ENSP00000343486:V18M;ENSP00000345878:V18M;ENSP00000378926:V18M;ENSP00000337103:V136M;ENSP00000378929:V54M;ENSP00000390521:V18M	ENSP00000337103:V136M	V	+	1	0	CHAT	50497795	1.000000	0.71417	0.984000	0.44739	0.028000	0.11728	4.506000	0.60428	2.378000	0.81104	0.462000	0.41574	GTG	CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.582	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	-	0.00	56	0	G	NM_020549		50827789	+1	tier1	rs201479289	no_errors	ENST00000337653	ensembl	human	known	74_37	missense	26.67	22	8	SNP	0.993	A
CHAT	1103	genome.wustl.edu	37	10	50854670	50854670	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:50854670G>A	ENST00000337653.2	+	8	1384	c.1231G>A	c.(1231-1233)Gga>Aga	p.G411R	CHAT_ENST00000339797.1_Missense_Mutation_p.G293R|CHAT_ENST00000395562.2_Missense_Mutation_p.G329R|CHAT_ENST00000455728.2_Missense_Mutation_p.G293R|CHAT_ENST00000395559.2_Missense_Mutation_p.G293R|CHAT_ENST00000351556.3_Missense_Mutation_p.G293R	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	411					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	CCTTCACGGCGGAGGCTACAG	0.637																																																	0													83.0	71.0	75.0					10																	50854670		2203	4300	6503	SO:0001583	missense	0			AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1231G>A	10.37:g.50854670G>A	ENSP00000337103:p.Gly411Arg		A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.G411R	ENST00000337653.2	37	c.1231	CCDS7232.1	10	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824733	0.90955	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.90985	0.7165	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.91602	0.5296	10	0.87932	D	0	-14.5516	19.2976	0.94129	0.0:0.0:1.0:0.0	.	293;411	F8W8I2;P28329	.;CLAT_HUMAN	R	293;293;293;411;329;293	ENSP00000343486:G293R;ENSP00000345878:G293R;ENSP00000378926:G293R;ENSP00000337103:G411R;ENSP00000378929:G329R;ENSP00000390521:G293R	ENSP00000337103:G411R	G	+	1	0	CHAT	50524676	1.000000	0.71417	0.954000	0.39281	0.650000	0.38633	9.869000	0.99810	2.569000	0.86673	0.655000	0.94253	GGA	CHAT	-	pfam_Carn_acyl_trans	ENSG00000070748		0.637	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHAT	HGNC	protein_coding	OTTHUMT00000047997.1	-	0.00	65	0	G	NM_020549		50854670	+1	tier1	-	no_errors	ENST00000337653	ensembl	human	known	74_37	missense	37.25	31	19	SNP	1.000	A
CHCHD5	84269	genome.wustl.edu	37	2	113346512	113346512	+	3'UTR	DEL	A	A	-	rs202174405|rs1047652	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:113346512delA	ENST00000324913.5	+	0	586				CHCHD5_ENST00000409719.1_3'UTR|AC012442.5_ENST00000414784.1_RNA|AC012442.6_ENST00000436885.1_lincRNA	NM_032309.2	NP_115685.1	Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5							mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						GACTGCCCCCACGCCCCTCCC	0.542																																																	0													43.0	37.0	39.0					2																	113346512		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			BC004498	CCDS2098.1	2q14.1	2012-10-15	2004-01-19	2004-01-21	ENSG00000125611	ENSG00000125611		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	17840	protein-coding gene	gene with protein product	"""mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog (S. cerevisiae)"""		"""chromosome 2 open reading frame 9"""	C2orf9		22842048	Standard	NM_032309		Approved	MGC11104, MIC14	uc002thz.1	Q9BSY4	OTTHUMG00000131312	ENST00000324913.5:c.*46A>-	2.37:g.113346512delA			Q585T4|Q8N8C4	RNA	DEL	-	NULL	ENST00000324913.5	37	NULL	CCDS2098.1	2																																																																																			CHCHD5	-	-	ENSG00000125611		0.542	CHCHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHCHD5	HGNC	protein_coding	OTTHUMT00000254081.2		0.00	43	0	A	NM_032309		113346512	+1	tier1		no_errors	ENST00000469030	ensembl	human	known	74_37	rna	48.78	21	20	DEL	0.000	-
CHD2	1106	genome.wustl.edu	37	15	93521378	93521378	+	Intron	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:93521378G>T	ENST00000394196.4	+	21	3645				CHD2_ENST00000557381.1_Intron	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2						cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ACACCTGCAGGGGTTTCCAGG	0.398																																																	0																																										SO:0001627	intron_variant	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.2578-86G>T	15.37:g.93521378G>T			C6G482|Q96IP5	RNA	SNP	-	NULL	ENST00000394196.4	37	NULL	CCDS10374.2	15																																																																																			CHD2	-	-	ENSG00000173575		0.398	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	-	0.00	78	0	G	NM_001271		93521378	+1	tier1	-	no_errors	ENST00000557340	ensembl	human	known	74_37	rna	5.48	69	4	SNP	1.000	T
CHD2	1106	genome.wustl.edu	37	15	93528733	93528733	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:93528733G>T	ENST00000394196.4	+	26	4311	c.3243G>T	c.(3241-3243)caG>caT	p.Q1081H	CHD2_ENST00000557381.1_Missense_Mutation_p.Q1081H	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1081					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTCAGGCTCAGACAAATGACA	0.453																																																	0													74.0	70.0	71.0					15																	93528733		2197	4298	6495	SO:0001583	missense	0			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3243G>T	15.37:g.93528733G>T	ENSP00000377747:p.Gln1081His		C6G482|Q96IP5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q1081H	ENST00000394196.4	37	c.3243	CCDS10374.2	15	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402844	0.62288	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	T;T	0.79247	-1.25;-1.25	5.42	4.5	0.54988	.	0.000000	0.32533	U	0.005969	T	0.78534	0.4298	L	0.50333	1.59	0.80722	D	1	B;P	0.49696	0.028;0.927	B;P	0.53401	0.01;0.725	T	0.78989	-0.1986	10	0.66056	D	0.02	-24.2486	8.5027	0.33168	0.2848:0.0:0.7152:0.0	.	1081;1081	O14647;O14647-2	CHD2_HUMAN;.	H	1081	ENSP00000377747:Q1081H;ENSP00000451366:Q1081H	ENSP00000377747:Q1081H	Q	+	3	2	CHD2	91329737	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.589000	0.36644	1.283000	0.44513	0.650000	0.86243	CAG	CHD2	-	NULL	ENSG00000173575		0.453	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	-	0.00	56	0	G	NM_001271		93528733	+1	tier1	-	no_errors	ENST00000557381	ensembl	human	putative	74_37	missense	5.88	64	4	SNP	1.000	T
CHD3	1107	genome.wustl.edu	37	17	7797811	7797811	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:7797811G>A	ENST00000330494.7	+	8	1304	c.1154G>A	c.(1153-1155)tGc>tAc	p.C385Y	CHD3_ENST00000380358.4_Missense_Mutation_p.C444Y|CHD3_ENST00000358181.4_Missense_Mutation_p.C385Y	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	385					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGTGAGGTGTGCCAGCAGGGT	0.597																																																	0													169.0	125.0	140.0					17																	7797811		2203	4300	6503	SO:0001583	missense	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1154G>A	17.37:g.7797811G>A	ENSP00000332628:p.Cys385Tyr		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.C385Y	ENST00000330494.7	37	c.1154	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106321	0.56291	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.99954	-8.82;-8.82;-8.82	4.47	4.47	0.54385	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.130969	0.35466	N	0.003194	D	0.99967	0.9988	H	0.98754	4.32	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.83275	0.994;0.996;0.996	D	0.96495	0.9367	10	0.87932	D	0	-12.2825	17.3374	0.87286	0.0:0.0:1.0:0.0	.	385;385;444	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	Y	444;385;385	ENSP00000369716:C444Y;ENSP00000350907:C385Y;ENSP00000332628:C385Y	ENSP00000332628:C385Y	C	+	2	0	CHD3	7738536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.706000	0.84615	2.315000	0.78130	0.557000	0.71058	TGC	CHD3	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000170004		0.597	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	-	0.00	73	0	G	NM_001005273		7797811	+1	tier1	-	no_errors	ENST00000330494	ensembl	human	known	74_37	missense	39.34	37	24	SNP	1.000	A
CHD6	84181	genome.wustl.edu	37	20	40054758	40054758	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:40054758G>A	ENST00000373233.3	-	28	4281	c.4104C>T	c.(4102-4104)agC>agT	p.S1368S		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1368					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCTTCTTTTCGCTAAAAACGC	0.433																																																	0													200.0	196.0	198.0					20																	40054758		2203	4300	6503	SO:0001819	synonymous_variant	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4104C>T	20.37:g.40054758G>A			Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S1368	ENST00000373233.3	37	c.4104	CCDS13317.1	20																																																																																			CHD6	-	NULL	ENSG00000124177		0.433	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	-	0.00	37	0	G			40054758	-1	tier1	-	no_errors	ENST00000373233	ensembl	human	known	74_37	silent	36.59	26	15	SNP	0.999	A
CHD8	57680	genome.wustl.edu	37	14	21899050	21899050	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:21899050C>T	ENST00000557364.1	-	2	1016	c.753G>A	c.(751-753)caG>caA	p.Q251Q	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Intron|RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000399982.2_Silent_p.Q251Q			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	251					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCTTAACTGGCTGGAGGACCA	0.592																																																	0													26.0	26.0	26.0					14																	21899050		1568	3582	5150	SO:0001819	synonymous_variant	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.753G>A	14.37:g.21899050C>T			Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.Q251	ENST00000557364.1	37	c.753	CCDS53885.1	14																																																																																			CHD8	-	NULL	ENSG00000100888		0.592	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	-	0.00	43	0	C	NM_020920		21899050	-1	tier1	-	no_errors	ENST00000399982	ensembl	human	known	74_37	silent	50.00	16	16	SNP	1.000	T
C19orf44	84167	genome.wustl.edu	37	19	16633994	16633994	+	IGR	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:16633994delG	ENST00000221671.3	+	0	3427				CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Frame_Shift_Del_p.H628fs|CHERP_ENST00000546361.2_Frame_Shift_Del_p.H617fs|CHERP_ENST00000544299.1_5'UTR	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44											endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TTGAAGCCATGGGGGGGAGGG	0.672																																																	0													42.0	54.0	50.0					19																	16633994		2110	4229	6339	SO:0001628	intergenic_variant	0			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5			19.37:g.16633994delG			Q8N6Y7	Frame_Shift_Del	DEL	pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.H617fs	ENST00000221671.3	37	c.1849	CCDS12345.1	19																																																																																			CHERP	-	NULL	ENSG00000085872		0.672	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHERP	HGNC	protein_coding	OTTHUMT00000461218.1		0.00	33	0	G	NM_032207		16633994	-1	tier1		no_errors	ENST00000546361	ensembl	human	known	74_37	frame_shift_del	45.71	19	16	DEL	0.998	-
CHGA	1113	genome.wustl.edu	37	14	93392964	93392964	+	Silent	SNP	C	C	T	rs376854650		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:93392964C>T	ENST00000216492.5	+	3	388	c.108C>T	c.(106-108)atC>atT	p.I36I	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Silent_p.I36I	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	36					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		TGAAATGCATCGTTGAGGTCA	0.567																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												0								C		0,4406		0,0,2203	103.0	77.0	86.0		108	0.9	1.0	14		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CHGA	NM_001275.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		36/458	93392964	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.108C>T	14.37:g.93392964C>T			B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Silent	SNP	pfam_Granin,prints_Chromogranin_AB	p.I36	ENST00000216492.5	37	c.108	CCDS9906.1	14																																																																																			CHGA	-	pfam_Granin,prints_Chromogranin_AB	ENSG00000100604		0.567	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGA	HGNC	protein_coding	OTTHUMT00000412411.1	-	0.00	41	0	C	NM_001275		93392964	+1	tier1	-	no_errors	ENST00000216492	ensembl	human	known	74_37	silent	27.50	29	11	SNP	0.998	T
CHID1	66005	genome.wustl.edu	37	11	893458	893458	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:893458G>T	ENST00000449825.1	-	8	1026	c.670C>A	c.(670-672)Ctc>Atc	p.L224I	CHID1_ENST00000436108.2_Missense_Mutation_p.L224I|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000454838.2_Missense_Mutation_p.L249I|CHID1_ENST00000336845.5_Missense_Mutation_p.L249I|CHID1_ENST00000323578.8_Missense_Mutation_p.L224I|CHID1_ENST00000528581.1_Missense_Mutation_p.L249I|CHID1_ENST00000323541.7_Missense_Mutation_p.L254I|CHID1_ENST00000429789.2_Intron	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	224					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		ATGACCAGGAGGGCCAGCAGC	0.682																																					Pancreas(117;992 2327 5172 41921)												0													35.0	36.0	36.0					11																	893458		2083	4133	6216	SO:0001583	missense	0			AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.670C>A	11.37:g.893458G>T	ENSP00000391255:p.Leu224Ile		B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.L254I	ENST00000449825.1	37	c.760	CCDS7722.1	11	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.368088	0.01225	.	.	ENSG00000177830	ENST00000323541;ENST00000449825;ENST00000454838;ENST00000323578;ENST00000528581;ENST00000336845;ENST00000436108;ENST00000531859	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	4.24	0.339	0.15979	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.246243	0.40469	N	0.001086	T	0.05456	0.0144	N	0.00037	-2.525	0.27236	N	0.959268	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.41627	-0.9498	10	0.02654	T	1	-19.4479	5.1828	0.15169	0.1743:0.0:0.3199:0.5058	.	285;254;249;224	B4DN31;B7Z705;Q9BWS9-2;Q9BWS9	.;.;.;CHID1_HUMAN	I	254;224;249;224;249;249;224;128	ENSP00000324821:L254I;ENSP00000391255:L224I;ENSP00000398722:L249I;ENSP00000325055:L224I;ENSP00000435503:L249I;ENSP00000338838:L249I;ENSP00000388156:L224I	ENSP00000324821:L254I	L	-	1	0	CHID1	883458	0.114000	0.22134	0.943000	0.38184	0.277000	0.26821	-0.002000	0.12924	-0.141000	0.11374	-1.272000	0.01410	CTC	CHID1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000177830		0.682	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CHID1	HGNC	protein_coding	OTTHUMT00000257112.1	-	0.00	150	0	G	NM_023947		893458	-1	tier1	-	no_errors	ENST00000323541	ensembl	human	known	74_37	missense	43.97	65	51	SNP	0.998	T
CHL1	10752	genome.wustl.edu	37	3	439987	439987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:439987G>T	ENST00000256509.2	+	25	3814	c.3172G>T	c.(3172-3174)Gaa>Taa	p.E1058*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.E1042*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GCCGGGAGCTGAACATATAGT	0.373																																																	0													79.0	78.0	78.0					3																	439987		2203	4300	6503	SO:0001587	stop_gained	0			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3172G>T	3.37:g.439987G>T	ENSP00000256509:p.Glu1058*		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E1058*	ENST00000256509.2	37	c.3172	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	45	11.944909	0.99620	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	.	.	.	5.72	5.72	0.89469	.	0.192419	0.44902	D	0.000408	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	18.0416	0.89320	0.0:0.0:1.0:0.0	.	.	.	.	X	1058;1042	.	ENSP00000256509:E1058X	E	+	1	0	CHL1	414987	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	5.279000	0.65597	2.711000	0.92665	0.650000	0.86243	GAA	CHL1	-	NULL	ENSG00000134121		0.373	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	-	0.00	45	0	G	NM_006614		439987	+1	tier1	-	no_errors	ENST00000256509	ensembl	human	known	74_37	nonsense	51.85	26	28	SNP	0.970	T
CHM	1121	genome.wustl.edu	37	X	85118101	85118101	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:85118101delT	ENST00000357749.2	-	0	3525				CHM_ENST00000467744.2_Splice_Site	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)						blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TACAGCCCCCttttttttttt	0.453																																																	0																																										SO:0001624	3_prime_UTR_variant	0			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.*1534A>-	X.37:g.85118101delT			A1L4D2|O43732	Splice_Site	DEL	-	NULL	ENST00000357749.2	37	c.NULL	CCDS14454.1	X																																																																																			CHM	-	-	ENSG00000188419		0.453	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3		0.00	13	0	T	NM_000390		85118101	-1	tier1		no_errors	ENST00000467744	ensembl	human	known	74_37	splice_site_del	31.25	11	5	DEL	0.003	-
CHPF2	54480	genome.wustl.edu	37	7	150932435	150932435	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:150932435G>C	ENST00000035307.2	+	2	2078	c.565G>C	c.(565-567)Gcc>Ccc	p.A189P	CHPF2_ENST00000495645.1_Missense_Mutation_p.A181P	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	189					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						ATATGTGCAGGCCCCCCGCCT	0.617																																																	0													91.0	93.0	92.0					7																	150932435		2203	4300	6503	SO:0001583	missense	0			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.565G>C	7.37:g.150932435G>C	ENSP00000035307:p.Ala189Pro		B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.A189P	ENST00000035307.2	37	c.565	CCDS34779.1	7	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248822	0.80024	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.27256	1.69;1.68	5.43	5.43	0.79202	.	0.047889	0.85682	D	0.000000	T	0.42404	0.1201	L	0.39467	1.215	0.80722	D	1	P;D	0.76494	0.747;0.999	B;D	0.69479	0.235;0.964	T	0.06826	-1.0805	9	.	.	.	-17.2153	18.255	0.90016	0.0:0.0:1.0:0.0	.	189;181	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	P	181;189;189	ENSP00000418914:A181P;ENSP00000035307:A189P	.	A	+	1	0	CHPF2	150563368	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.547000	0.85894	0.591000	0.81541	GCC	CHPF2	-	pfam_Fringe-like	ENSG00000033100		0.617	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	HGNC	protein_coding	OTTHUMT00000348648.2	-	0.00	57	0	G	NM_019015		150932435	+1	tier1	-	no_errors	ENST00000035307	ensembl	human	known	74_37	missense	42.86	27	21	SNP	1.000	C
CHPF2	54480	genome.wustl.edu	37	7	150935268	150935268	+	Missense_Mutation	SNP	G	G	T	rs572673739		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:150935268G>T	ENST00000035307.2	+	4	3333	c.1820G>T	c.(1819-1821)tGt>tTt	p.C607F	MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.C599F	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	607					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CTCAACCGCTGTCGCATGAAT	0.592																																																	0													57.0	49.0	52.0					7																	150935268		2203	4300	6503	SO:0001583	missense	0			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1820G>T	7.37:g.150935268G>T	ENSP00000035307:p.Cys607Phe		B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.C607F	ENST00000035307.2	37	c.1820	CCDS34779.1	7	.	.	.	.	.	.	.	.	.	.	G	17.64	3.439169	0.63067	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.16897	2.31;2.31	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.994	T	0.51140	-0.8743	10	0.87932	D	0	-23.8513	16.8572	0.86009	0.0:0.0:1.0:0.0	.	607;599	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	F	599;607;607	ENSP00000418914:C599F;ENSP00000035307:C607F	ENSP00000035307:C607F	C	+	2	0	CHPF2	150566201	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.794000	0.85869	2.440000	0.82611	0.585000	0.79938	TGT	CHPF2	-	pfam_Chond_GalNAc	ENSG00000033100		0.592	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	HGNC	protein_coding	OTTHUMT00000348648.2	-	0.00	34	0	G	NM_019015		150935268	+1	tier1	-	no_errors	ENST00000035307	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	T
CHPF2	54480	genome.wustl.edu	37	7	150935672	150935672	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:150935672T>C	ENST00000035307.2	+	4	3737	c.2224T>C	c.(2224-2226)Tac>Cac	p.Y742H	MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.Y734H	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	742					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGAAGAACTCTACCACCGCTG	0.642																																																	0													30.0	28.0	29.0					7																	150935672		2202	4300	6502	SO:0001583	missense	0			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.2224T>C	7.37:g.150935672T>C	ENSP00000035307:p.Tyr742His		B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.Y742H	ENST00000035307.2	37	c.2224	CCDS34779.1	7	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155381	0.78114	.	.	ENSG00000033100	ENST00000495645;ENST00000035307	T;T	0.17528	2.27;2.27	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.992;0.996	T	0.27088	-1.0084	10	0.56958	D	0.05	-16.8148	13.7365	0.62821	0.0:0.0:0.0:1.0	.	742;734	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	H	734;742	ENSP00000418914:Y734H;ENSP00000035307:Y742H	ENSP00000035307:Y742H	Y	+	1	0	CHPF2	150566605	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.868000	0.87116	2.018000	0.59344	0.533000	0.62120	TAC	CHPF2	-	pfam_Chond_GalNAc	ENSG00000033100		0.642	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	HGNC	protein_coding	OTTHUMT00000348648.2	-	0.00	36	0	T	NM_019015		150935672	+1	tier1	-	no_errors	ENST00000035307	ensembl	human	known	74_37	missense	36.36	21	12	SNP	1.000	C
CHRD	8646	genome.wustl.edu	37	3	184104414	184104414	+	Silent	SNP	G	G	A	rs376517219		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:184104414G>A	ENST00000204604.1	+	16	2313	c.2067G>A	c.(2065-2067)gcG>gcA	p.A689A	CHRD_ENST00000348986.3_Silent_p.A649A|CHRD_ENST00000545352.1_Intron|CHRD_ENST00000450923.1_Silent_p.A689A|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	689					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGGCCCTAGCGCCCGCCAAAC	0.751																																																	0													9.0	11.0	10.0					3																	184104414		2092	4166	6258	SO:0001819	synonymous_variant	0			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2067G>A	3.37:g.184104414G>A			O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.A689	ENST00000204604.1	37	c.2067	CCDS3266.1	3																																																																																			CHRD	-	pirsf_Chordin	ENSG00000090539		0.751	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	-	0.00	8	0	G	NM_003741		184104414	+1	tier1	-	no_errors	ENST00000204604	ensembl	human	known	74_37	silent	62.50	3	5	SNP	0.000	A
CHRM3	1131	genome.wustl.edu	37	1	240072235	240072235	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:240072235C>T	ENST00000255380.4	+	5	2263	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	495					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACCCTCAGTGCGATCTTGCTT	0.493																																																	0													150.0	138.0	142.0					1																	240072235		2203	4300	6503	SO:0001583	missense	0			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1484C>T	1.37:g.240072235C>T	ENSP00000255380:p.Ala495Val		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.A495V	ENST00000255380.4	37	c.1484	CCDS1616.1	1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659170	0.88154	.	.	ENSG00000133019	ENST00000255380	T	0.33654	1.4	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.67373	0.2886	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.70626	-0.4820	10	0.72032	D	0.01	-18.2966	20.1653	0.98150	0.0:1.0:0.0:0.0	.	495	P20309	ACM3_HUMAN	V	495	ENSP00000255380:A495V	ENSP00000255380:A495V	A	+	2	0	CHRM3	238138858	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	7.818000	0.86416	2.768000	0.95171	0.655000	0.94253	GCG	CHRM3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000133019		0.493	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2	-	0.00	51	0	C	NM_000740		240072235	+1	tier1	-	no_errors	ENST00000255380	ensembl	human	known	74_37	missense	45.00	22	18	SNP	1.000	T
CHRM3	1131	genome.wustl.edu	37	1	240072444	240072444	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:240072444delA	ENST00000255380.4	+	5	2472	c.1693delA	c.(1693-1695)aaafs	p.K567fs		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	567					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.R568fs*>24(1)|p.K567fs*>24(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCAGTGTGACAAAAAAAAGAG	0.502																																																	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(1)|breast(1)											49.0	49.0	49.0					1																	240072444		2203	4300	6503	SO:0001589	frameshift_variant	0			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1693delA	1.37:g.240072444delA	ENSP00000255380:p.Lys567fs		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.K567fs	ENST00000255380.4	37	c.1693	CCDS1616.1	1																																																																																			CHRM3	-	NULL	ENSG00000133019		0.502	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	HGNC	protein_coding	OTTHUMT00000095644.2		0.00	46	0	A	NM_000740		240072444	+1	tier1		no_errors	ENST00000255380	ensembl	human	known	74_37	frame_shift_del	50.00	21	21	DEL	1.000	-
CHRNB2	1141	genome.wustl.edu	37	1	154544175	154544175	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:154544175C>T	ENST00000368476.3	+	5	1140	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	292					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CCACCTCCCTCGACGTGCCGC	0.602																																																	0													182.0	137.0	152.0					1																	154544175		2203	4300	6503	SO:0001819	synonymous_variant	0			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.876C>T	1.37:g.154544175C>T			Q9UEH9	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L292	ENST00000368476.3	37	c.876	CCDS1070.1	1																																																																																			CHRNB2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000160716		0.602	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	HGNC	protein_coding	OTTHUMT00000090697.1	-	0.00	49	0	C	NM_000748		154544175	+1	tier1	-	no_errors	ENST00000368476	ensembl	human	known	74_37	silent	29.63	38	16	SNP	0.886	T
CHST12	55501	genome.wustl.edu	37	7	2473033	2473033	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:2473033C>T	ENST00000258711.6	+	2	894	c.759C>T	c.(757-759)tcC>tcT	p.S253S		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	253					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCCTGATCTCCGCCTTCCGCA	0.627																																																	0													77.0	64.0	68.0					7																	2473033		2202	4298	6500	SO:0001819	synonymous_variant	0			AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.759C>T	7.37:g.2473033C>T			A4D1Z9|Q502W3|Q9NXY7	Silent	SNP	pfam_Sulfotransferase,superfamily_P-loop_NTPase	p.S253	ENST00000258711.6	37	c.759	CCDS5333.1	7																																																																																			CHST12	-	pfam_Sulfotransferase,superfamily_P-loop_NTPase	ENSG00000136213		0.627	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST12	HGNC	protein_coding	OTTHUMT00000060170.3	-	0.00	67	0	C	NM_018641		2473033	+1	tier1	-	no_errors	ENST00000258711	ensembl	human	known	74_37	silent	48.08	27	25	SNP	0.076	T
CHST3	9469	genome.wustl.edu	37	10	73768016	73768016	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:73768016C>T	ENST00000373115.4	+	3	1664	c.1227C>T	c.(1225-1227)caC>caT	p.H409H		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	409					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						AGGCGGCCCACGACGGCAGCG	0.657																																																	0													18.0	17.0	17.0					10																	73768016		2187	4270	6457	SO:0001819	synonymous_variant	0			AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.1227C>T	10.37:g.73768016C>T			O75099|Q52M30	Silent	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.H409	ENST00000373115.4	37	c.1227	CCDS7312.1	10																																																																																			CHST3	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	ENSG00000122863		0.657	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST3	HGNC	protein_coding	OTTHUMT00000048563.1	-	0.00	52	0	C	NM_004273		73768016	+1	tier1	-	no_errors	ENST00000373115	ensembl	human	known	74_37	silent	50.00	26	26	SNP	0.006	T
CHUK	1147	genome.wustl.edu	37	10	101953783	101953783	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:101953783T>C	ENST00000370397.7	-	18	2018	c.1932A>G	c.(1930-1932)ggA>ggG	p.G644G	CHUK_ENST00000590930.1_5'UTR	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	644					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TCTGCCTTTTTCCCTGCATGA	0.363																																					Ovarian(159;52 1904 10536 35305 37148)												0													109.0	102.0	105.0					10																	101953783		2203	4300	6503	SO:0001819	synonymous_variant	0			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1932A>G	10.37:g.101953783T>C			O14666|Q13132|Q5W0I4|Q92467	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G644	ENST00000370397.7	37	c.1932	CCDS7488.1	10																																																																																			CHUK	-	NULL	ENSG00000213341		0.363	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1	-	0.00	64	0	T	NM_001278		101953783	-1	tier1	-	no_errors	ENST00000370397	ensembl	human	known	74_37	silent	37.36	57	34	SNP	1.000	C
CILP	8483	genome.wustl.edu	37	15	65499358	65499358	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:65499358G>A	ENST00000261883.4	-	4	352	c.186C>T	c.(184-186)atC>atT	p.I62I		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	62					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTGGGTAGTCGATGTTGAACC	0.597																																																	0													53.0	43.0	46.0					15																	65499358		2201	4299	6500	SO:0001819	synonymous_variant	0			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.186C>T	15.37:g.65499358G>A			B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.I62	ENST00000261883.4	37	c.186	CCDS10203.1	15																																																																																			CILP	-	NULL	ENSG00000138615		0.597	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	HGNC	protein_coding	OTTHUMT00000256829.1	-	0.00	81	0	G	NM_003613		65499358	-1	tier1	-	no_errors	ENST00000261883	ensembl	human	known	74_37	silent	50.00	33	33	SNP	0.065	A
PCGF2	7703	genome.wustl.edu	37	17	36890761	36890761	+	3'UTR	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:36890761G>A	ENST00000580830.1	-	0	2451				RNA5SP440_ENST00000363245.1_RNA|PCGF2_ENST00000360797.2_3'UTR|PCGF2_ENST00000581345.1_3'UTR|CISD3_ENST00000439660.2_3'UTR|CISD3_ENST00000578573.1_3'UTR			P35227	PCGF2_HUMAN	polycomb group ring finger 2						anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					GATAAATGATGCAAAGGCCAC	0.478																																																	0																																										SO:0001624	3_prime_UTR_variant	0			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.*715C>T	17.37:g.36890761G>A			A6NGD8	RNA	SNP	-	NULL	ENST00000580830.1	37	NULL	CCDS32638.1	17																																																																																			CISD3	-	-	ENSG00000230055		0.478	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CISD3	HGNC	protein_coding	OTTHUMT00000442246.2	-	0.00	11	0	G	NM_007144		36890761	+1	tier1	-	no_errors	ENST00000578573	ensembl	human	known	74_37	rna	50.00	8	8	SNP	0.000	A
PCGF2	7703	genome.wustl.edu	37	17	36890781	36890783	+	3'UTR	DEL	AAA	AAA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:36890781_36890783delAAA	ENST00000580830.1	-	0	2429_2431				RNA5SP440_ENST00000363245.1_RNA|PCGF2_ENST00000360797.2_3'UTR|PCGF2_ENST00000581345.1_3'UTR|CISD3_ENST00000439660.2_3'UTR|CISD3_ENST00000578573.1_3'UTR			P35227	PCGF2_HUMAN	polycomb group ring finger 2						anterior/posterior pattern specification (GO:0009952)|cellular response to hydrogen peroxide (GO:0070301)|embryonic skeletal system morphogenesis (GO:0048704)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					CACACACAGGAAAAAAAAAAAAA	0.473																																																	0																																										SO:0001624	3_prime_UTR_variant	0			D13969	CCDS32638.1	17q12	2013-01-09	2005-01-17	2005-01-19		ENSG00000277258		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	12929	protein-coding gene	gene with protein product		600346	"""ring finger protein 110"""	ZNF144, RNF110		8325509	Standard	NM_007144		Approved	MEL-18	uc002hqp.1	P35227		ENST00000580830.1:c.*695TTT>-	17.37:g.36890790_36890792delAAA			A6NGD8	RNA	DEL	-	NULL	ENST00000580830.1	37	NULL	CCDS32638.1	17																																																																																			CISD3	-	-	ENSG00000230055		0.473	PCGF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CISD3	HGNC	protein_coding	OTTHUMT00000442246.2		0.00	13	0	AAA	NM_007144		36890783	+1	tier1		no_errors	ENST00000578573	ensembl	human	known	74_37	rna	47.37	10	9	DEL	0.000:0.000:0.000	-
CLASP1	23332	genome.wustl.edu	37	2	122135110	122135110	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:122135110G>A	ENST00000263710.4	-	34	3996	c.3607C>T	c.(3607-3609)Cca>Tca	p.P1203S	CLASP1_ENST00000545861.1_Missense_Mutation_p.P910S|CLASP1_ENST00000541859.1_Missense_Mutation_p.P920S|CLASP1_ENST00000397587.3_Missense_Mutation_p.P1143S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P1142S|CLASP1_ENST00000455322.2_Missense_Mutation_p.P1159S|CLASP1_ENST00000409078.3_Missense_Mutation_p.P1136S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1203					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CGTTTAATTGGCTCATTCAGA	0.368																																																	0													176.0	148.0	157.0					2																	122135110		1849	4099	5948	SO:0001583	missense	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.3607C>T	2.37:g.122135110G>A	ENSP00000263710:p.Pro1203Ser		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.P1203S	ENST00000263710.4	37	c.3607		2	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417931	0.62622	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T	0.45668	2.15;2.21;2.19;2.2;0.89;2.2	5.83	4.96	0.65561	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60663	0.2286	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.69078	0.996;0.996;0.993;0.997	P;P;P;D	0.65684	0.874;0.895;0.787;0.937	T	0.59794	-0.7387	10	0.30078	T	0.28	-3.5197	14.9072	0.70730	0.0683:0.0:0.9317:0.0	.	1136;1143;1144;1203	E7EUA5;F5GWS0;A2RU21;Q7Z460	.;.;.;CLAP1_HUMAN	S	1203;1159;1143;1142;920;1136;910	ENSP00000263710:P1203S;ENSP00000389372:P1159S;ENSP00000380717:P1143S;ENSP00000441625:P1142S;ENSP00000441770:P920S;ENSP00000386442:P1136S	ENSP00000263710:P1203S	P	-	1	0	CLASP1	121851580	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	8.004000	0.88535	1.489000	0.48450	-0.136000	0.14681	CCA	CLASP1	-	superfamily_ARM-type_fold	ENSG00000074054		0.368	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		-	0.00	51	0	G	NM_015282		122135110	-1	tier1	-	no_errors	ENST00000263710	ensembl	human	known	74_37	missense	34.04	31	16	SNP	1.000	A
CLASP1	23332	genome.wustl.edu	37	2	122208519	122208519	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:122208519G>T	ENST00000263710.4	-	16	1882	c.1493C>A	c.(1492-1494)gCt>gAt	p.A498D	CLASP1_ENST00000545861.1_Missense_Mutation_p.A266D|CLASP1_ENST00000541859.1_Missense_Mutation_p.A267D|CLASP1_ENST00000397587.3_Missense_Mutation_p.A498D|CLASP1_ENST00000541377.1_Missense_Mutation_p.A498D|CLASP1_ENST00000455322.2_Missense_Mutation_p.A498D|CLASP1_ENST00000409078.3_Missense_Mutation_p.A498D	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	498					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TTCGGAATCAGCATCATGTAT	0.303																																																	0													231.0	215.0	220.0					2																	122208519		1842	4092	5934	SO:0001583	missense	0			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1493C>A	2.37:g.122208519G>T	ENSP00000263710:p.Ala498Asp		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.A498D	ENST00000263710.4	37	c.1493		2	.	.	.	.	.	.	.	.	.	.	G	33	5.263666	0.95399	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13	5.84	5.84	0.93424	Armadillo-like helical (1);Armadillo-type fold (2);CLASP N-terminal domain (1);	0.000000	0.85682	D	0.000000	T	0.81527	0.4841	M	0.88181	2.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	D	0.83962	0.0322	10	0.87932	D	0	.	20.1386	0.98045	0.0:0.0:1.0:0.0	.	498;498;498;498	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	D	498;498;498;498;267;498;266	ENSP00000263710:A498D;ENSP00000389372:A498D;ENSP00000380717:A498D;ENSP00000441625:A498D;ENSP00000441770:A267D;ENSP00000386442:A498D;ENSP00000438620:A266D	ENSP00000263710:A498D	A	-	2	0	CLASP1	121924989	1.000000	0.71417	0.974000	0.42286	0.986000	0.74619	9.869000	0.99810	2.767000	0.95098	0.561000	0.74099	GCT	CLASP1	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold	ENSG00000074054		0.303	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		-	0.00	60	0	G	NM_015282		122208519	-1	tier1	-	no_errors	ENST00000263710	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	T
CLASRP	11129	genome.wustl.edu	37	19	45567329	45567329	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:45567329G>A	ENST00000221455.3	+	12	1063	c.965G>A	c.(964-966)cGc>cAc	p.R322H	CLASRP_ENST00000544944.2_Missense_Mutation_p.R322H|CLASRP_ENST00000391953.4_Missense_Mutation_p.R260H	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	322					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						ACCCCGGGCCGCGAGGAGAAG	0.677																																																	0													17.0	22.0	20.0					19																	45567329		2202	4297	6499	SO:0001583	missense	0			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.965G>A	19.37:g.45567329G>A	ENSP00000221455:p.Arg322His		B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	pfam_SWAP_N_domain	p.R322H	ENST00000221455.3	37	c.965	CCDS12652.2	19	.	.	.	.	.	.	.	.	.	.	G	16.18	3.051236	0.55218	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.11604	2.77;2.76;2.77;2.77	4.69	3.58	0.41010	.	0.000000	0.36002	U	0.002852	T	0.14485	0.0350	N	0.14661	0.345	0.42336	D	0.992318	D;P;P	0.76494	0.999;0.934;0.762	D;B;B	0.65573	0.936;0.071;0.01	T	0.07214	-1.0784	10	0.46703	T	0.11	-8.8659	11.2802	0.49190	0.0:0.0:0.817:0.183	.	260;322;322	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	H	322;322;260;322	ENSP00000221455:R322H;ENSP00000375814:R322H;ENSP00000375815:R260H;ENSP00000438702:R322H	ENSP00000221455:R322H	R	+	2	0	CLASRP	50259169	1.000000	0.71417	0.886000	0.34754	0.923000	0.55619	4.089000	0.57685	2.168000	0.68352	0.462000	0.41574	CGC	CLASRP	-	NULL	ENSG00000104859		0.677	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLASRP	HGNC	protein_coding	OTTHUMT00000316749.1	-	0.00	30	0	G	NM_007056		45567329	+1	tier1	-	no_errors	ENST00000221455	ensembl	human	known	74_37	missense	63.04	17	29	SNP	0.963	A
CLCN5	1184	genome.wustl.edu	37	X	49806967	49806967	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:49806967G>T	ENST00000376088.3	+	4	700	c.59G>T	c.(58-60)aGc>aTc	p.S20I	CLCN5_ENST00000376091.3_Missense_Mutation_p.S20I|CLCN5_ENST00000482218.2_Missense_Mutation_p.S20I	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	0					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AGTTTTAGTAGCTTCCAGAAC	0.453																																																	0													79.0	60.0	66.0					X																	49806967		1567	3579	5146	SO:0001583	missense	0			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000376088.3:c.59G>T	X.37:g.49806967G>T	ENSP00000365256:p.Ser20Ile		A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-5	p.S20I	ENST00000376088.3	37	c.59	CCDS48115.1	X	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664256	0.88251	.	.	ENSG00000171365	ENST00000376088;ENST00000376091	D;D	0.90385	-2.66;-2.66	5.22	5.22	0.72569	.	.	.	.	.	D	0.94820	0.8327	.	.	.	0.80722	D	1	D	0.58970	0.984	D	0.71870	0.975	D	0.94849	0.8012	8	0.51188	T	0.08	.	15.1166	0.72407	0.0:0.0:1.0:0.0	.	20	P51795-2	.	I	20	ENSP00000365256:S20I;ENSP00000365259:S20I	ENSP00000365256:S20I	S	+	2	0	CLCN5	49693707	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.229000	0.72294	2.158000	0.67659	0.422000	0.28245	AGC	CLCN5	-	NULL	ENSG00000171365		0.453	CLCN5-001	KNOWN	basic|CCDS	protein_coding	CLCN5	HGNC	protein_coding	OTTHUMT00000056542.2	-	0.00	52	0	G			49806967	+1	tier1	-	no_errors	ENST00000376088	ensembl	human	known	74_37	missense	12.82	34	5	SNP	1.000	T
CLEC16A	23274	genome.wustl.edu	37	16	11272291	11272291	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:11272291C>T	ENST00000409790.1	+	24	3136	c.2906C>T	c.(2905-2907)gCc>gTc	p.A969V	CLEC16A_ENST00000381822.2_Missense_Mutation_p.A56V	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAGAACGTGGCCAGGAGCGCA	0.622																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											84.0	101.0	95.0					16																	11272291		2172	4251	6423	SO:0001583	missense	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2906C>T	16.37:g.11272291C>T	ENSP00000387122:p.Ala969Val			Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.A969V	ENST00000409790.1	37	c.2906	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	C	4.564	0.104840	0.08731	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000381822	T	0.46063	0.88	4.49	2.37	0.29283	.	1.046320	0.07465	N	0.901303	T	0.16514	0.0397	N	0.02011	-0.69	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.12156	0.007;0.0	T	0.29027	-1.0025	10	0.17832	T	0.49	-2.6629	4.7159	0.12894	0.0:0.3661:0.4042:0.2297	.	56;969	Q2KHT3-3;Q2KHT3	.;CL16A_HUMAN	V	969;969;56	ENSP00000387122:A969V	ENSP00000371244:A56V	A	+	2	0	CLEC16A	11179792	0.003000	0.15002	0.001000	0.08648	0.244000	0.25665	0.068000	0.14531	0.425000	0.26087	0.655000	0.94253	GCC	CLEC16A	-	NULL	ENSG00000038532		0.622	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	-	0.00	53	0	C	NM_015226		11272291	+1	tier1	-	no_errors	ENST00000409790	ensembl	human	known	74_37	missense	43.24	21	16	SNP	0.001	T
CLEC18A	348174	genome.wustl.edu	37	16	69985298	69985298	+	Frame_Shift_Del	DEL	G	G	-	rs558566760	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:69985298delG	ENST00000288040.6	+	1	216	c.29delG	c.(28-30)cggfs	p.R10fs	CLEC18A_ENST00000393701.2_Frame_Shift_Del_p.R10fs|CLEC18A_ENST00000449317.2_Frame_Shift_Del_p.R10fs|CLEC18A_ENST00000568461.1_Frame_Shift_Del_p.R10fs	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	10						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|lung(1)|skin(1)	5						TCCCCTGGCCGGGGGCATCTC	0.682																																																	0													1.0	1.0	1.0					16																	69985298		296	659	955	SO:0001589	frameshift_variant	0			AF428259	CCDS10886.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157322		"""C-type lectin domain containing"""	30388	protein-coding gene	gene with protein product	"""mannose receptor-like"""					12975309	Standard	NM_001136214		Approved	MRCL	uc010vlo.3	A5D8T8		ENST00000288040.6:c.29delG	16.37:g.69985298delG	ENSP00000288040:p.Arg10fs		A8K1G9|Q6DCB3|Q7Z5K9|Q96HH2	Frame_Shift_Del	DEL	pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.H12fs	ENST00000288040.6	37	c.29	CCDS10886.1	16																																																																																			CLEC18A	-	NULL	ENSG00000157322		0.682	CLEC18A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC18A	HGNC	protein_coding	OTTHUMT00000268955.2		0.00	59	0	G	NM_182619		69985298	+1			no_errors	ENST00000449317	ensembl	human	known	74_37	frame_shift_del	10.91	49	6	DEL	0.000	0
CLEC3B	7123	genome.wustl.edu	37	3	45077350	45077350	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:45077350C>T	ENST00000296130.4	+	3	723	c.543C>T	c.(541-543)aaC>aaT	p.N181N	CLEC3B_ENST00000490386.1_3'UTR|CLEC3B_ENST00000428034.1_Silent_p.N139N|RNU5B-3P_ENST00000516601.1_RNA	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	181	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	GCGCGGCCAACGGCAAGTGGT	0.687																																					GBM(139;1487 3263 30871)												0													31.0	32.0	32.0					3																	45077350		2200	4296	6496	SO:0001819	synonymous_variant	0				CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815		"""C-type lectin domain containing"""	11891	protein-coding gene	gene with protein product		187520	"""tetranectin (plasminogen binding protein)"""	TNA			Standard	NM_003278		Approved	TN	uc003cok.4	P05452	OTTHUMG00000133087	ENST00000296130.4:c.543C>T	3.37:g.45077350C>T			Q6FGX6	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.N181	ENST00000296130.4	37	c.543	CCDS2726.1	3																																																																																			CLEC3B	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000163815		0.687	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC3B	HGNC	protein_coding	OTTHUMT00000256745.1	-	0.00	71	0	C	NM_003278		45077350	+1	tier1	-	no_errors	ENST00000296130	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.002	T
CLEC9A	283420	genome.wustl.edu	37	12	10205421	10205424	+	Intron	DEL	TTTT	TTTT	-	rs375899502		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:10205421_10205424delTTTT	ENST00000355819.1	+	4	704				CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A						positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						AGAGTTCATGTTTTTTTTTTTTTT	0.382																																																	0																																										SO:0001627	intron_variant	0				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.91+44TTTT>-	12.37:g.10205429_10205432delTTTT			B0ZBM2	RNA	DEL	-	NULL	ENST00000355819.1	37	NULL	CCDS8611.1	12																																																																																			CLEC9A	-	-	ENSG00000197992		0.382	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CLEC9A	HGNC	protein_coding	OTTHUMT00000399564.1		0.00	25	0	TTTT	NM_207345		10205424	+1	tier1		no_errors	ENST00000544751	ensembl	human	known	74_37	rna	34.62	34	18	DEL	0.000:0.000:0.008:0.006	-
CLIC4	25932	genome.wustl.edu	37	1	25124245	25124245	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:25124245G>T	ENST00000374379.4	+	2	282	c.85G>T	c.(85-87)Ggt>Tgt	p.G29C	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	29	Required for insertion into the membrane. {ECO:0000305}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		TGGCAGTGATGGTGAAAGCAT	0.383																																																	0													119.0	119.0	119.0					1																	25124245		2203	4300	6503	SO:0001583	missense	0			AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"""Ion channels / Chloride channels : Intracellular"""	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.85G>T	1.37:g.25124245G>T	ENSP00000363500:p.Gly29Cys		Q9UFW9|Q9UQJ6	Missense_Mutation	SNP	superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel	p.G29C	ENST00000374379.4	37	c.85	CCDS256.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.372315	0.95923	.	.	ENSG00000169504	ENST00000374379;ENST00000444041	T	0.27557	1.66	5.96	5.96	0.96718	Thioredoxin-like fold (2);	0.100108	0.64402	D	0.000001	T	0.59404	0.2191	M	0.75264	2.295	0.58432	D	0.999998	D	0.89917	1.0	D	0.79784	0.993	T	0.59815	-0.7383	10	0.87932	D	0	-17.7985	20.0059	0.97434	0.0:0.0:1.0:0.0	.	29	Q9Y696	CLIC4_HUMAN	C	29	ENSP00000363500:G29C	ENSP00000363500:G29C	G	+	1	0	CLIC4	24996832	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.401000	0.97294	2.830000	0.97506	0.655000	0.94253	GGT	CLIC4	-	superfamily_Thioredoxin-like_fold,tigrfam_Int_Cl_channel	ENSG00000169504		0.383	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIC4	HGNC	protein_coding	OTTHUMT00000009332.1	-	0.00	71	0	G	NM_013943		25124245	+1	tier1	-	no_errors	ENST00000374379	ensembl	human	known	74_37	missense	42.53	50	37	SNP	1.000	T
CLIC5	53405	genome.wustl.edu	37	6	45882249	45882249	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:45882249C>T	ENST00000185206.6	-	5	1036				CLIC5_ENST00000486570.1_5'UTR|CLIC5_ENST00000544153.1_Intron|CLIC5_ENST00000339561.6_Intron	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5						auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CTGTCCCCTTCATCACACTGC	0.448																																																	0																																										SO:0001627	intron_variant	0			AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.884-103G>A	6.37:g.45882249C>T			B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	RNA	SNP	-	NULL	ENST00000185206.6	37	NULL	CCDS47438.1	6																																																																																			CLIC5	-	-	ENSG00000112782		0.448	CLIC5-002	KNOWN	basic|CCDS	protein_coding	CLIC5	HGNC	protein_coding	OTTHUMT00000040761.1	-	0.00	12	0	C			45882249	-1	tier1	-	no_errors	ENST00000484572	ensembl	human	known	74_37	rna	38.89	11	7	SNP	0.000	T
CLIP2	7461	genome.wustl.edu	37	7	73790972	73790972	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:73790972G>T	ENST00000395060.1	+	9	2241	c.2241G>T	c.(2239-2241)caG>caT	p.Q747H	CLIP2_ENST00000223398.6_Missense_Mutation_p.Q747H|CLIP2_ENST00000361545.5_Missense_Mutation_p.Q712H			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	747						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						GCCAGGCGCAGGCTATCGAGT	0.647																																																	0													30.0	39.0	36.0					7																	73790972		2203	4300	6503	SO:0001583	missense	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	ENST00000395060.1:c.2241G>T	7.37:g.73790972G>T	ENSP00000378500:p.Gln747His		O14527|O43611	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain	p.Q747H	ENST00000395060.1	37	c.2241	CCDS5569.1	7	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180634	0.38511	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.60797	0.16;0.17;0.16	4.9	1.74	0.24563	.	0.524833	0.20206	N	0.096989	T	0.47764	0.1463	L	0.27053	0.805	0.27964	N	0.93668	D;P;B	0.56968	0.978;0.547;0.412	P;B;B	0.52267	0.694;0.346;0.259	T	0.38067	-0.9678	10	0.62326	D	0.03	-25.0114	4.4371	0.11555	0.3279:0.1646:0.5075:0.0	.	712;712;747	A7E2F7;Q9UDT6-2;Q9UDT6	.;.;CLIP2_HUMAN	H	747;747;712;747	ENSP00000223398:Q747H;ENSP00000355151:Q712H;ENSP00000378500:Q747H	ENSP00000223398:Q747H	Q	+	3	2	CLIP2	73428908	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	2.092000	0.41700	1.034000	0.39945	0.449000	0.29647	CAG	CLIP2	-	NULL	ENSG00000106665		0.647	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	HGNC	protein_coding	OTTHUMT00000252556.1	-	0.00	42	0	G	NM_003388		73790972	+1	tier1	-	no_errors	ENST00000223398	ensembl	human	known	74_37	missense	41.67	28	20	SNP	0.969	T
CLK2	1196	genome.wustl.edu	37	1	155232994	155232994	+	3'UTR	SNP	C	C	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:155232994C>G	ENST00000368361.4	-	0	1830				SCAMP3_ENST00000472397.1_5'Flank|CLK2_ENST00000536801.1_3'UTR|SCAMP3_ENST00000302631.3_5'Flank|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_3'UTR|CLK2_ENST00000361168.5_3'UTR|SCAMP3_ENST00000355379.3_5'Flank			P49760	CLK2_HUMAN	CDC-like kinase 2						negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGCAGGGGGGCCCAGGGCCTG	0.567								Other conserved DNA damage response genes																																									0													27.0	30.0	29.0					1																	155232994		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.*15G>C	1.37:g.155232994C>G			B1AVS9|B5MBX6|Q96CQ0	RNA	SNP	-	NULL	ENST00000368361.4	37	NULL		1																																																																																			CLK2	-	-	ENSG00000176444		0.567	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	-	0.00	32	0	C	NM_003993		155232994	-1	tier1	-	no_errors	ENST00000476983	ensembl	human	known	74_37	rna	27.27	24	9	SNP	1.000	G
CLK2	1196	genome.wustl.edu	37	1	155238599	155238600	+	Intron	INS	-	-	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:155238599_155238600insG	ENST00000368361.4	-	4	715				CLK2_ENST00000536801.1_Intron|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Intron|CLK2_ENST00000361168.5_Intron			P49760	CLK2_HUMAN	CDC-like kinase 2						negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTCGGGGGGCAGGGGGGGTCGG	0.698								Other conserved DNA damage response genes																																									0																																										SO:0001627	intron_variant	0			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.400-13->C	1.37:g.155238606_155238606dupG			B1AVS9|B5MBX6|Q96CQ0	RNA	INS	-	NULL	ENST00000368361.4	37	NULL		1																																																																																			CLK2	-	-	ENSG00000176444		0.698	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1		0.00	31	0	-	NM_003993		155238600	-1	tier1		no_errors	ENST00000497188	ensembl	human	known	74_37	rna	30.43	16	7	INS	1.000:1.000	G
CLN6	54982	genome.wustl.edu	37	15	68500615	68500615	+	Missense_Mutation	SNP	C	C	T	rs374613712		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:68500615C>T	ENST00000249806.5	-	7	956	c.799G>A	c.(799-801)Gca>Aca	p.A267T	CLN6_ENST00000538696.1_Missense_Mutation_p.A299T|CALML4_ENST00000540479.1_5'Flank|CLN6_ENST00000565471.1_Missense_Mutation_p.A114T|CALML4_ENST00000467889.1_5'Flank|CALML4_ENST00000395465.3_5'Flank|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000418702.2_Missense_Mutation_p.A138T|CALML4_ENST00000448060.2_5'Flank|CLN6_ENST00000566347.1_Missense_Mutation_p.A204T	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	267					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGGGTCAGTGCGAAGGAGGAG	0.597																																																	0								C	THR/ALA	1,4399	2.1+/-5.4	0,1,2199	122.0	115.0	118.0		799	-2.3	0.0	15		118	0,8596		0,0,4298	no	missense	CLN6	NM_017882.2	58	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	267/312	68500615	1,12995	2200	4298	6498	SO:0001583	missense	0			AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.799G>A	15.37:g.68500615C>T	ENSP00000249806:p.Ala267Thr		A8K560|B4DDH6|Q6IAB1|Q96SR0	Missense_Mutation	SNP	NULL	p.A267T	ENST00000249806.5	37	c.799	CCDS10227.1	15	.	.	.	.	.	.	.	.	.	.	C	6.560	0.471681	0.12461	2.27E-4	0.0	ENSG00000128973	ENST00000249806;ENST00000418702;ENST00000538696	D;D;D	0.94576	-3.46;-3.46;-3.46	5.34	-2.35	0.06684	.	1.159590	0.06127	N	0.669961	D	0.85500	0.5711	L	0.34521	1.04	0.09310	N	1	P;B;P	0.43287	0.802;0.001;0.802	B;B;B	0.31337	0.128;0.001;0.128	T	0.78112	-0.2331	10	0.26408	T	0.33	-5.824	2.2415	0.04021	0.2136:0.4136:0.1437:0.2291	.	299;138;267	B4DDH6;E7ESV1;Q9NWW5	.;.;CLN6_HUMAN	T	267;138;299	ENSP00000249806:A267T;ENSP00000393826:A138T;ENSP00000445770:A299T	ENSP00000249806:A267T	A	-	1	0	CLN6	66287669	0.000000	0.05858	0.017000	0.16124	0.281000	0.26958	-0.253000	0.08794	-0.496000	0.06650	-2.995000	0.00078	GCA	CLN6	-	NULL	ENSG00000128973		0.597	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN6	HGNC	protein_coding	OTTHUMT00000257066.1	-	0.00	20	0	C	NM_017882		68500615	-1	tier1	-	no_errors	ENST00000249806	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.000	T
CLN8	2055	genome.wustl.edu	37	8	1719218	1719218	+	5'UTR	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:1719218A>T	ENST00000331222.4	+	0	245					NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)						adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		ATAGCTGTGGACAATGAATCC	0.557																																					Pancreas(155;338 1942 6138 10888 50612)												0													55.0	56.0	56.0					8																	1719218		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.-3A>T	8.37:g.1719218A>T			Q86U71|Q96I95	RNA	SNP	-	NULL	ENST00000331222.4	37	NULL	CCDS5956.1	8																																																																																			CLN8	-	-	ENSG00000182372		0.557	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN8	HGNC	protein_coding	OTTHUMT00000206715.2	-	0.00	27	0	A	NM_018941		1719218	+1	tier1	-	no_errors	ENST00000524258	ensembl	human	known	74_37	rna	29.27	29	12	SNP	0.005	T
CLN8	2055	genome.wustl.edu	37	8	1728667	1728667	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:1728667C>T	ENST00000331222.4	+	3	1042	c.795C>T	c.(793-795)ttC>ttT	p.F265F	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	265					adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		ACTGGAACTTCGCACAGCCAG	0.577																																					Pancreas(155;338 1942 6138 10888 50612)												0													102.0	106.0	104.0					8																	1728667		2203	4300	6503	SO:0001819	synonymous_variant	0			AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.795C>T	8.37:g.1728667C>T			Q86U71|Q96I95	Silent	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.F265	ENST00000331222.4	37	c.795	CCDS5956.1	8																																																																																			CLN8	-	NULL	ENSG00000182372		0.577	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN8	HGNC	protein_coding	OTTHUMT00000206715.2	-	0.00	33	0	C	NM_018941		1728667	+1	tier1	-	no_errors	ENST00000331222	ensembl	human	known	74_37	silent	30.77	18	8	SNP	0.058	T
CLP1	10978	genome.wustl.edu	37	11	57428888	57428888	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:57428888C>T	ENST00000302731.4	+	3	1186	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	CLP1_ENST00000529430.1_Missense_Mutation_p.R431W|CLP1_ENST00000525602.1_Missense_Mutation_p.R420W|CLP1_ENST00000533682.1_Missense_Mutation_p.R420W	NM_001142597.1|NM_006831.2	NP_001136069.1|NP_006822.1	Q5KU26	COL12_HUMAN	cleavage and polyadenylation factor I subunit 1	0					carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						CATGGATATCCGGTTCATGGA	0.522																																																	0													104.0	94.0	98.0					11																	57428888		2201	4296	6497	SO:0001583	missense	0			BC000446	CCDS7964.1, CCDS44600.1	11q12.1	2012-10-02	2012-10-02		ENSG00000172409	ENSG00000172409	2.7.1.78		16999	protein-coding gene	gene with protein product	"""ATP/GTPbinding protein"", ""polyribonucleotide 5'-hydroxyl-kinase"""	608757	"""CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae)"""			8896421, 11060040	Standard	NM_006831		Approved	HEAB, hClp1	uc001nkw.3	Q92989	OTTHUMG00000167146	ENST00000302731.4:c.1066C>T	11.37:g.57428888C>T	ENSP00000304704:p.Arg356Trp		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase	p.R420W	ENST00000302731.4	37	c.1258	CCDS44600.1	11	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356335	0.82243	.	.	ENSG00000172409	ENST00000529430;ENST00000533682;ENST00000525602;ENST00000302731	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	6.07	5.15	0.70609	Pre-mRNA cleavage complex II Clp1 (1);	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70935	0.971;0.97	T	0.63314	-0.6665	10	0.72032	D	0.01	-2.5213	14.1463	0.65353	0.2729:0.7271:0.0:0.0	.	356;420	Q92989-2;Q92989	.;CLP1_HUMAN	W	431;420;420;356	ENSP00000433406:R431W;ENSP00000434995:R420W;ENSP00000436066:R420W;ENSP00000304704:R356W	ENSP00000304704:R356W	R	+	1	2	CLP1	57185464	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.784000	0.55416	1.565000	0.49641	0.650000	0.86243	CGG	CLP1	-	pfam_Pre-mRNA_cleavage_cplxII_Clp1	ENSG00000172409		0.522	CLP1-003	NOVEL	basic|exp_conf|CCDS	protein_coding	CLP1	HGNC	protein_coding	OTTHUMT00000393465.1	-	0.00	28	0	C	NM_006831		57428888	+1	tier1	-	no_errors	ENST00000525602	ensembl	human	known	74_37	missense	44.83	16	13	SNP	1.000	T
CLPTM1L	81037	genome.wustl.edu	37	5	1339037	1339037	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:1339037C>T	ENST00000320895.5	-	4	794	c.537G>A	c.(535-537)atG>atA	p.M179I	CLPTM1L_ENST00000507807.1_Missense_Mutation_p.M46I|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.M179I	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	179					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		AGTTGTCCGCCATCACGTTCA	0.617																																																	0													65.0	61.0	62.0					5																	1339037		2202	4300	6502	SO:0001583	missense	0			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.537G>A	5.37:g.1339037C>T	ENSP00000313854:p.Met179Ile		D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	pfam_CLPTM1	p.M179I	ENST00000320895.5	37	c.537	CCDS3862.1	5	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748962	0.30955	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.36699	1.24;1.31;1.25	5.24	4.36	0.52297	.	0.086880	0.85682	D	0.000000	T	0.26774	0.0655	L	0.28344	0.845	0.49582	D	0.999806	B;B	0.21821	0.044;0.061	B;B	0.23419	0.046;0.008	T	0.03818	-1.1001	10	0.16420	T	0.52	-45.1229	15.2672	0.73672	0.1413:0.8587:0.0:0.0	.	179;46	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	I	179;46;179	ENSP00000313854:M179I;ENSP00000423321:M46I;ENSP00000315196:M179I	ENSP00000313854:M179I	M	-	3	0	CLPTM1L	1392037	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	3.693000	0.54735	1.187000	0.43000	0.591000	0.81541	ATG	CLPTM1L	-	pfam_CLPTM1	ENSG00000049656		0.617	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1L	HGNC	protein_coding	OTTHUMT00000253649.2	-	0.00	58	0	C	NM_030782		1339037	-1	tier1	-	no_errors	ENST00000320895	ensembl	human	known	74_37	missense	34.41	61	32	SNP	1.000	T
CLSTN2	64084	genome.wustl.edu	37	3	140123554	140123554	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:140123554A>T	ENST00000458420.3	+	4	773	c.583A>T	c.(583-585)Atc>Ttc	p.I195F	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	195	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GTACAGCCAGATCTGCAACTA	0.527										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0													141.0	119.0	127.0					3																	140123554		2203	4300	6503	SO:0001583	missense	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.583A>T	3.37:g.140123554A>T	ENSP00000402460:p.Ile195Phe		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I195F	ENST00000458420.3	37	c.583	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	A	24.0	4.478724	0.84747	.	.	ENSG00000158258	ENST00000458420	T	0.57436	0.4	5.66	5.66	0.87406	Cadherin (4);Cadherin-like (1);	0.110474	0.64402	D	0.000016	T	0.78477	0.4289	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83901	0.0290	10	0.87932	D	0	-5.6889	13.8537	0.63513	1.0:0.0:0.0:0.0	.	195	Q9H4D0	CSTN2_HUMAN	F	195	ENSP00000402460:I195F	ENSP00000402460:I195F	I	+	1	0	CLSTN2	141606244	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.452000	0.80683	2.153000	0.67306	0.460000	0.39030	ATC	CLSTN2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000158258		0.527	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	-	0.00	91	0	A	NM_022131		140123554	+1	tier1	-	no_errors	ENST00000458420	ensembl	human	known	74_37	missense	6.02	78	5	SNP	1.000	T
CLSTN3	9746	genome.wustl.edu	37	12	7310095	7310095	+	Silent	SNP	C	C	T	rs376700576		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:7310095C>T	ENST00000266546.6	+	17	2988	c.2538C>T	c.(2536-2538)agC>agT	p.S846S	CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000537408.1_Silent_p.S858S	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	846					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGATACCCAGCGCCGCAACCC	0.652																																																	0								C		0,4406		0,0,2203	57.0	46.0	50.0		2538	-4.7	0.5	12		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CLSTN3	NM_014718.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		846/957	7310095	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2538C>T	12.37:g.7310095C>T			D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S846	ENST00000266546.6	37	c.2538	CCDS8575.1	12																																																																																			CLSTN3	-	NULL	ENSG00000139182		0.652	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2	-	0.00	44	0	C	NM_014718		7310095	+1	tier1	-	no_errors	ENST00000266546	ensembl	human	known	74_37	silent	25.00	60	20	SNP	0.966	T
CLUH	23277	genome.wustl.edu	37	17	2606773	2606774	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:2606773_2606774insG	ENST00000570628.2	-	3	304_305	c.199_200insC	c.(199-201)cagfs	p.Q67fs	CLUH_ENST00000538975.1_Frame_Shift_Ins_p.Q67fs|CLUH_ENST00000435359.1_Frame_Shift_Ins_p.Q67fs			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	67					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											CACCATCTCCTGGGGGGACACC	0.663																																																	0																																										SO:0001589	frameshift_variant	0			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.200dupC	17.37:g.2606779_2606779dupG	ENSP00000458986:p.Gln67fs		Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Frame_Shift_Ins	INS	superfamily_GSKIP_dom	p.Q67fs	ENST00000570628.2	37	c.200_199	CCDS45572.1	17																																																																																			CLUH	-	NULL	ENSG00000132361		0.663	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLUH	HGNC	protein_coding	OTTHUMT00000437807.2		0.00	53	0	-	NM_015229		2606774	-1	tier1		no_errors	ENST00000435359	ensembl	human	known	74_37	frame_shift_ins	26.83	30	11	INS	1.000:1.000	G
CLVS1	157807	genome.wustl.edu	37	8	62212594	62212594	+	Missense_Mutation	SNP	C	C	T	rs368485692		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:62212594C>T	ENST00000519846.1	+	3	680	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.R70C|RP11-787D18.1_ENST00000518064.1_RNA|RP11-787D18.1_ENST00000521801.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	70					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGGATTTTTACGTACAGATGA	0.478																																																	0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	124.0	105.0	111.0		208	5.8	1.0	8		111	0,8600		0,0,4300	no	missense	CLVS1	NM_173519.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	70/355	62212594	1,13005	2203	4300	6503	SO:0001583	missense	0			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.208C>T	8.37:g.62212594C>T	ENSP00000428402:p.Arg70Cys		B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.R70C	ENST00000519846.1	37	c.208	CCDS6176.1	8	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211162	0.58343	2.27E-4	0.0	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	D;D	0.86694	-2.16;-2.16	5.79	5.79	0.91817	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92420	0.7594	M	0.66506	2.035	0.80722	D	1	D;B;P	0.89917	1.0;0.4;0.892	D;B;P	0.91635	0.999;0.17;0.474	D	0.92617	0.6104	10	0.72032	D	0.01	-24.4501	14.8236	0.70091	0.1438:0.8562:0.0:0.0	.	70;70;70	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	C	70	ENSP00000428402:R70C;ENSP00000325506:R70C	ENSP00000325506:R70C	R	+	1	0	CLVS1	62375148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.167000	0.50793	2.746000	0.94184	0.655000	0.94253	CGT	CLVS1	-	pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom	ENSG00000177182		0.478	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLVS1	HGNC	protein_coding	OTTHUMT00000378323.1	-	0.00	60	0	C	NM_173519		62212594	+1	tier1	-	no_errors	ENST00000325897	ensembl	human	known	74_37	missense	25.00	51	17	SNP	1.000	T
CMC1	152100	genome.wustl.edu	37	3	28357733	28357733	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:28357733delT	ENST00000466830.1	+	3	308				CMC1_ENST00000423894.1_Intron|CMC1_ENST00000469102.1_3'UTR	NM_182523.1	NP_872329.1	Q7Z7K0	COXM1_HUMAN	C-x(9)-C motif containing 1							mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)	5						acagGCTTTCTTTTTTTTTTT	0.353																																																	0																																										SO:0001627	intron_variant	0			BC052644	CCDS33722.1	3p24.1	2013-10-18	2013-10-18	2008-06-20	ENSG00000187118	ENSG00000187118			28783	protein-coding gene	gene with protein product		615166	"""chromosome 3 open reading frame 68"", ""COX assembly mitochondrial protein 1 homolog (S. cerevisiae)"""	C3orf68		18443040	Standard	NM_182523		Approved	MGC61571	uc003cea.3	Q7Z7K0	OTTHUMG00000155660	ENST00000466830.1:c.110-91T>-	3.37:g.28357733delT			Q68DJ7	RNA	DEL	-	NULL	ENST00000466830.1	37	NULL	CCDS33722.1	3																																																																																			CMC1	-	-	ENSG00000187118		0.353	CMC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CMC1	HGNC	protein_coding	OTTHUMT00000341087.1		0.00	26	0	T	NM_182523		28357733	+1	tier1		no_errors	ENST00000469102	ensembl	human	known	74_37	rna	42.86	20	15	DEL	0.003	-
CMYA5	202333	genome.wustl.edu	37	5	79026843	79026844	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:79026843_79026844insCT	ENST00000446378.2	+	2	2286_2287	c.2255_2256insCT	c.(2254-2259)ccctctfs	p.PS752fs		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	752					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GCTTCTGAGCCCTCTCTCTCAC	0.5																																																	0																																										SO:0001589	frameshift_variant	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2262_2263dupCT	5.37:g.79026850_79026851dupCT	ENSP00000394770:p.Pro752fs		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.S756fs	ENST00000446378.2	37	c.2255_2256	CCDS47238.1	5																																																																																			CMYA5	-	NULL	ENSG00000164309		0.500	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1		0.00	21	0	-	NM_153610		79026844	+1	tier1		no_errors	ENST00000446378	ensembl	human	known	74_37	frame_shift_ins	50.00	12	12	INS	0.000:0.000	CT
CNKSR1	10256	genome.wustl.edu	37	1	26514777	26514778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:26514777_26514778insC	ENST00000374253.5	+	17	1567_1568	c.1528_1529insC	c.(1528-1530)gccfs	p.A510fs	CNKSR1_ENST00000531191.1_Frame_Shift_Ins_p.A245fs|CATSPER4_ENST00000456354.2_5'Flank|CNKSR1_ENST00000361530.6_Frame_Shift_Ins_p.A503fs	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	510					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)	p.A503T(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGGCCGGGCCCCCCCACCC	0.604																																					NSCLC(180;1396 2109 28270 30756 34275)												1	Substitution - Missense(1)	upper_aerodigestive_tract(1)																																								SO:0001589	frameshift_variant	0			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1535dupC	1.37:g.26514784_26514784dupC	ENSP00000363371:p.Ala510fs		B1AMW9|O95381	Frame_Shift_Ins	INS	pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.P513fs	ENST00000374253.5	37	c.1528_1529		1																																																																																			CNKSR1	-	NULL	ENSG00000142675		0.604	CNKSR1-007	KNOWN	basic	protein_coding	CNKSR1	HGNC	protein_coding	OTTHUMT00000089943.2		0.00	73	0	-	NM_006314		26514778	+1	tier1		no_errors	ENST00000374253	ensembl	human	known	74_37	frame_shift_ins	34.52	55	29	INS	0.000:0.000	C
CNKSR1	10256	genome.wustl.edu	37	1	26514778	26514778	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:26514778delC	ENST00000374253.5	+	17	1568	c.1529delC	c.(1528-1530)gccfs	p.A510fs	CNKSR1_ENST00000531191.1_Frame_Shift_Del_p.A245fs|CATSPER4_ENST00000456354.2_5'Flank|CNKSR1_ENST00000361530.6_Frame_Shift_Del_p.A503fs	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	510					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGCCGGGCCCCCCCACCC	0.607																																					NSCLC(180;1396 2109 28270 30756 34275)												0													62.0	64.0	64.0					1																	26514778		2203	4300	6503	SO:0001589	frameshift_variant	0			AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1529delC	1.37:g.26514778delC	ENSP00000363371:p.Ala510fs		B1AMW9|O95381	Frame_Shift_Del	DEL	pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.P512fs	ENST00000374253.5	37	c.1529		1																																																																																			CNKSR1	-	NULL	ENSG00000142675		0.607	CNKSR1-007	KNOWN	basic	protein_coding	CNKSR1	HGNC	protein_coding	OTTHUMT00000089943.2		0.00	73	0	C	NM_006314		26514778	+1	tier1		no_errors	ENST00000374253	ensembl	human	known	74_37	frame_shift_del	29.76	59	25	DEL	0.000	-
CNIH4	29097	genome.wustl.edu	37	1	224544611	224544611	+	5'UTR	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:224544611G>T	ENST00000465271.1	+	0	60				CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366858.3_5'UTR|CNIH4_ENST00000366857.5_5'UTR|CNIH4_ENST00000366856.3_5'UTR	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4						intracellular signal transduction (GO:0035556)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		AGGAGCGGCGGCGACGGAGGA	0.637																																																	0													139.0	103.0	115.0					1																	224544611		2202	4300	6502	SO:0001623	5_prime_UTR_variant	0				CCDS1543.1, CCDS60429.1, CCDS60430.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143771	ENSG00000143771			25013	protein-coding gene	gene with protein product			"""cornichon homolog 4 (Drosophila)"""			11042152	Standard	NM_014184		Approved	HSPC163	uc001hom.2	Q9P003	OTTHUMG00000037635	ENST00000465271.1:c.-16G>T	1.37:g.224544611G>T			A8K1Q8|B2R553|Q9H0X8	RNA	SNP	-	NULL	ENST00000465271.1	37	NULL	CCDS1543.1	1																																																																																			CNIH4	-	-	ENSG00000143771		0.637	CNIH4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNIH4	HGNC	protein_coding	OTTHUMT00000091754.1	-	0.00	65	0	G	NM_014184		224544611	+1	tier1	-	no_errors	ENST00000366860	ensembl	human	known	74_37	rna	5.48	69	4	SNP	0.002	T
CNKSR2	22866	genome.wustl.edu	37	X	21627459	21627459	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:21627459C>T	ENST00000379510.3	+	20	2452	c.2416C>T	c.(2416-2418)Cgg>Tgg	p.R806W	CNKSR2_ENST00000543067.1_Missense_Mutation_p.R757W|CNKSR2_ENST00000279451.4_Missense_Mutation_p.R806W|CNKSR2_ENST00000425654.2_Missense_Mutation_p.R776W	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	806					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGAGCACAGGCGGCAGTCTAC	0.542																																																	0													64.0	60.0	61.0					X																	21627459		2203	4300	6503	SO:0001583	missense	0			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2416C>T	X.37:g.21627459C>T	ENSP00000368824:p.Arg806Trp		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.R806W	ENST00000379510.3	37	c.2416	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	C	13.11	2.140311	0.37825	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.21031	2.3;2.03;2.05;2.33	5.51	3.7	0.42460	.	0.000000	0.85682	D	0.000000	T	0.43942	0.1270	M	0.66939	2.045	0.52099	D	0.999949	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.969;0.958;0.991;0.983	T	0.35773	-0.9775	10	0.87932	D	0	-1.8636	13.8863	0.63710	0.2782:0.7218:0.0:0.0	.	776;757;398;806	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	W	776;757;806;806	ENSP00000397906:R776W;ENSP00000444633:R757W;ENSP00000279451:R806W;ENSP00000368824:R806W	ENSP00000279451:R806W	R	+	1	2	CNKSR2	21537380	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	1.230000	0.32612	0.472000	0.27344	-0.371000	0.07208	CGG	CNKSR2	-	NULL	ENSG00000149970		0.542	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	-	0.00	28	0	C	NM_014927		21627459	+1	tier1	-	no_errors	ENST00000379510	ensembl	human	known	74_37	missense	77.42	7	24	SNP	1.000	T
CNN1	1264	genome.wustl.edu	37	19	11649718	11649718	+	5'UTR	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:11649718delC	ENST00000252456.2	+	0	187				CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000544952.1_5'Flank|CNN1_ENST00000535659.2_5'UTR	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle						actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GCCGCCACTGCCCCCGCCAGA	0.632																																																	0													24.0	24.0	24.0					19																	11649718		2203	4299	6502	SO:0001623	5_prime_UTR_variant	0			U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.-25C>-	19.37:g.11649718delC			B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	RNA	DEL	-	NULL	ENST00000252456.2	37	NULL	CCDS12263.1	19																																																																																			CNN1	-	-	ENSG00000130176		0.632	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN1	HGNC	protein_coding	OTTHUMT00000458854.1		0.00	78	0	C	NM_001299		11649718	+1	tier1		no_errors	ENST00000588468	ensembl	human	known	74_37	rna	32.00	51	24	DEL	0.199	-
CNNM2	54805	genome.wustl.edu	37	10	104679763	104679763	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:104679763delC	ENST00000369878.4	+	1	1714	c.1526delC	c.(1525-1527)accfs	p.T509fs	CNNM2_ENST00000433628.2_Frame_Shift_Del_p.T509fs|CNNM2_ENST00000369875.3_Frame_Shift_Del_p.T509fs	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	509	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				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)		GATGACTGTACCCCCCTGAAA	0.488																																																	0													124.0	132.0	129.0					10																	104679763		2203	4300	6503	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	ENST00000369878.4:c.1526delC	10.37:g.104679763delC	ENSP00000358894:p.Thr509fs		Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Frame_Shift_Del	DEL	pfam_DUF21,superfamily_cNMP-bd-like	p.L511fs	ENST00000369878.4	37	c.1526	CCDS44474.1	10																																																																																			CNNM2	-	NULL	ENSG00000148842		0.488	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3		0.00	88	0	C	NM_017649		104679763	+1	tier1		no_errors	ENST00000369878	ensembl	human	known	74_37	frame_shift_del	53.73	31	36	DEL	1.000	-
CNOT1	23019	genome.wustl.edu	37	16	58575501	58575501	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:58575501C>A	ENST00000317147.5	-	34	5036	c.4704G>T	c.(4702-4704)caG>caT	p.Q1568H	CNOT1_ENST00000569240.1_Missense_Mutation_p.Q1563H|CNOT1_ENST00000245138.4_Missense_Mutation_p.Q419H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1568	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAACAGCCAACTGCTTTGGGT	0.413																																																	0													102.0	97.0	98.0					16																	58575501		2198	4300	6498	SO:0001583	missense	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4704G>T	16.37:g.58575501C>A	ENSP00000320949:p.Gln1568His		Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold	p.Q1568H	ENST00000317147.5	37	c.4704	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253660	0.80135	.	.	ENSG00000125107	ENST00000317147;ENST00000245138;ENST00000394200	T	0.58060	0.36	6.02	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.948;0.962;0.983	T	0.76072	-0.3093	10	0.52906	T	0.07	.	14.4659	0.67482	0.0:0.9273:0.0:0.0727	.	419;1568;1563	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	H	1568;419;1563	ENSP00000320949:Q1568H	ENSP00000245138:Q419H	Q	-	3	2	CNOT1	57133002	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.345000	0.52182	1.495000	0.48549	0.655000	0.94253	CAG	CNOT1	-	NULL	ENSG00000125107		0.413	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	-	0.00	41	0	C	NM_016284		58575501	-1	tier1	-	no_errors	ENST00000317147	ensembl	human	known	74_37	missense	41.67	28	20	SNP	1.000	A
CNPY3	10695	genome.wustl.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-	rs570105218	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:42897358_42897360delTGC	ENST00000372836.4	+	1	421_423	c.50_52delTGC	c.(49-54)ttgctg>ttg	p.17_18LL>L	CNPY3_ENST00000394142.3_In_Frame_Del_p.17_18LL>L	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	17					innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)		p.L25delL(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.695																																																	1	Deletion - In frame(1)	central_nervous_system(1)																																								SO:0001651	inframe_deletion	0			U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.50_52delTGC	6.37:g.42897367_42897369delTGC	ENSP00000361926:p.Leu25del		O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	In_Frame_Del	DEL	pfam_DUF3456	p.L21in_frame_del	ENST00000372836.4	37	c.50_52	CCDS4875.1	6																																																																																			CNPY3	-	NULL	ENSG00000137161		0.695	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY3	HGNC	protein_coding	OTTHUMT00000040564.1		0.00	35	0	TGC	NM_006586		42897360	+1	tier1		no_errors	ENST00000372836	ensembl	human	known	74_37	in_frame_del	26.32	14	5	DEL	0.122:0.131:0.153	-
CNPY3	10695	genome.wustl.edu	37	6	42905914	42905914	+	Silent	SNP	C	C	T	rs367667963		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:42905914C>T	ENST00000372836.4	+	5	953	c.582C>T	c.(580-582)tgC>tgT	p.C194C	RP3-475N16.1_ENST00000450671.1_RNA|CNPY3_ENST00000394142.3_3'UTR	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	194	Saposin B-type.				innate immune response (GO:0045087)|toll-like receptor signaling pathway (GO:0002224)	endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			AATTCCTCTGCGCCAACCACG	0.527																																																	0								C		0,4406		0,0,2203	164.0	148.0	153.0		582	-1.1	1.0	6		153	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CNPY3	NM_006586.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		194/279	42905914	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U80744	CCDS4875.1	6p21.1	2013-09-19	2013-07-23	2007-10-22	ENSG00000137161	ENSG00000137161		"""Trinucleotide (CAG) repeat containing"""	11968	protein-coding gene	gene with protein product		610774	"""trinucleotide repeat containing 5"", ""canopy 3 homolog (zebrafish)"""	TNRC5		9225980	Standard	NM_006586		Approved	CAG4A	uc003ota.4	Q9BT09	OTTHUMG00000014708	ENST00000372836.4:c.582C>T	6.37:g.42905914C>T			O15412|Q0P6I2|Q8NF54|Q8WTU8|Q9P0F2	Silent	SNP	pfam_DUF3456	p.C194	ENST00000372836.4	37	c.582	CCDS4875.1	6																																																																																			CNPY3	-	pfam_DUF3456	ENSG00000137161		0.527	CNPY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY3	HGNC	protein_coding	OTTHUMT00000040564.1	-	0.00	73	0	C	NM_006586		42905914	+1	tier1	-	no_errors	ENST00000372836	ensembl	human	known	74_37	silent	6.17	76	5	SNP	1.000	T
CNTLN	54875	genome.wustl.edu	37	9	17135271	17135271	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:17135271G>T	ENST00000380647.3	+	1	292	c.208G>T	c.(208-210)Ggg>Tgg	p.G70W	CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000380641.4_Missense_Mutation_p.G70W|CNTLN_ENST00000425824.1_Missense_Mutation_p.G70W|CNTLN_ENST00000262360.5_Missense_Mutation_p.G70W			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	70					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GCGAGGGCCTGGGGGGGCAGC	0.687																																																	0																																										SO:0001583	missense	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.208G>T	9.37:g.17135271G>T	ENSP00000370021:p.Gly70Trp		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	superfamily_Prefoldin	p.G70W	ENST00000380647.3	37	c.208	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466234	0.26335	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	4.77	2.91	0.33838	.	.	.	.	.	T	0.17959	0.0431	L	0.36672	1.1	0.09310	N	1	P;P;P;D	0.61697	0.771;0.771;0.924;0.99	B;B;B;P	0.62014	0.394;0.394;0.391;0.897	T	0.07712	-1.0758	9	0.72032	D	0.01	.	6.8098	0.23799	0.0958:0.177:0.7272:0.0	.	70;70;70;70	C9J1F9;Q9NXG0-2;Q9NXG0-3;B1AMC8	.;.;.;.	W	70	ENSP00000370021:G70W;ENSP00000392798:G70W;ENSP00000262360:G70W;ENSP00000370015:G70W	ENSP00000262360:G70W	G	+	1	0	CNTLN	17125271	0.003000	0.15002	0.002000	0.10522	0.055000	0.15305	1.334000	0.33827	0.703000	0.31848	-0.263000	0.10527	GGG	CNTLN	-	NULL	ENSG00000044459		0.687	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3		0.00	33	0	G	NM_017738		17135271	+1			no_errors	ENST00000380647	ensembl	human	known	74_37	missense	14.29	20	5	SNP	0.002	T
CNTLN	54875	genome.wustl.edu	37	9	17135271	17135271	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:17135271delG	ENST00000380647.3	+	1	292	c.208delG	c.(208-210)gggfs	p.G71fs	CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000380641.4_Frame_Shift_Del_p.G71fs|CNTLN_ENST00000425824.1_Frame_Shift_Del_p.G71fs|CNTLN_ENST00000262360.5_Frame_Shift_Del_p.G71fs			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	71					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GCGAGGGCCTGGGGGGGCAGC	0.687																																																	0									,	17,15,3612		0,0,17,0,15,1790					,	-9.0	0.0			16	35,39,7786		2,0,31,1,37,3859	no	codingComplex,codingComplex	CNTLN	NM_017738.2,NM_001114395.1	,	2,0,48,1,52,5649	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9415,0.8782,0.9214	,	,		52,54,11398				SO:0001589	frameshift_variant	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.208delG	9.37:g.17135271delG	ENSP00000370021:p.Gly71fs		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Frame_Shift_Del	DEL	superfamily_Prefoldin	p.A72fs	ENST00000380647.3	37	c.208	CCDS43789.1	9																																																																																			CNTLN	-	NULL	ENSG00000044459		0.687	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	HGNC	protein_coding	OTTHUMT00000051793.3		0.00	33	0	G	NM_017738		17135271	+1	tier1		no_errors	ENST00000380647	ensembl	human	known	74_37	frame_shift_del	28.57	25	10	DEL	0.002	-
CNTN2	6900	genome.wustl.edu	37	1	205031075	205031075	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:205031075C>T	ENST00000331830.4	+	9	1340	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	AL583832.1_ENST00000515887.1_RNA	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	352	Ig-like C2-type 4.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAGCCGCCGGCAAGCCCCGGC	0.637											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(183;2548 2817 37099 41192)												0													23.0	26.0	25.0					1																	205031075		2181	4273	6454	SO:0001819	synonymous_variant	0			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.1056C>T	1.37:g.205031075C>T		2149	P78432|Q5T054	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G352	ENST00000331830.4	37	c.1056	CCDS1449.1	1																																																																																			CNTN2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000184144		0.637	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3	-	0.00	54	0	C	NM_005076		205031075	+1	tier1	-	no_errors	ENST00000331830	ensembl	human	known	74_37	silent	21.35	70	19	SNP	0.995	T
CNTN5	53942	genome.wustl.edu	37	11	99827718	99827718	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:99827718C>T	ENST00000524871.1	+	8	1144	c.854C>T	c.(853-855)aCg>aTg	p.T285M	CNTN5_ENST00000418526.2_Missense_Mutation_p.T211M|CNTN5_ENST00000528682.1_Missense_Mutation_p.T285M|CNTN5_ENST00000279463.3_Missense_Mutation_p.T285M|CNTN5_ENST00000527185.1_Missense_Mutation_p.T285M	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	285					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGTCCTCCAACGCCACTCACT	0.393																																																	0													40.0	40.0	40.0					11																	99827718		1943	4148	6091	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.854C>T	11.37:g.99827718C>T	ENSP00000435637:p.Thr285Met		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.T285M	ENST00000524871.1	37	c.854	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886161	0.51908	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.57907	0.37;0.42;0.42;0.43;0.42	5.47	5.47	0.80525	Immunoglobulin subtype (1);	0.050201	0.85682	D	0.000000	T	0.71600	0.3359	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.995;0.998	T	0.73353	-0.4009	10	0.87932	D	0	.	18.6577	0.91460	0.0:1.0:0.0:0.0	.	285;211;285	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	M	285;285;285;211;285	ENSP00000433575:T285M;ENSP00000436185:T285M;ENSP00000435637:T285M;ENSP00000393229:T211M;ENSP00000279463:T285M	ENSP00000279463:T285M	T	+	2	0	CNTN5	99332928	1.000000	0.71417	0.979000	0.43373	0.100000	0.18952	7.417000	0.80156	2.711000	0.92665	0.585000	0.79938	ACG	CNTN5	-	smart_Ig_sub	ENSG00000149972		0.393	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	-	0.00	22	0	C	NM_014361		99827718	+1	tier1	-	no_errors	ENST00000279463	ensembl	human	known	74_37	missense	50.00	12	12	SNP	1.000	T
CNTNAP1	8506	genome.wustl.edu	37	17	40844640	40844640	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:40844640A>G	ENST00000264638.4	+	17	2871	c.2654A>G	c.(2653-2655)aAg>aGg	p.K885R	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	885	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ATCAACGTGAAGCAGGCCCGG	0.562																																																	0													120.0	110.0	113.0					17																	40844640		2203	4300	6503	SO:0001583	missense	0			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2654A>G	17.37:g.40844640A>G	ENSP00000264638:p.Lys885Arg			Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.K885R	ENST00000264638.4	37	c.2654	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	A	31	5.096374	0.94197	.	.	ENSG00000108797	ENST00000264638	T	0.78246	-1.16	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000001	D	0.85053	0.5609	L	0.53729	1.69	0.52501	D	0.999954	D	0.89917	1.0	D	0.79784	0.993	D	0.84012	0.0349	10	0.36615	T	0.2	.	15.9478	0.79806	1.0:0.0:0.0:0.0	.	885	P78357	CNTP1_HUMAN	R	885	ENSP00000264638:K885R	ENSP00000264638:K885R	K	+	2	0	CNTNAP1	38098166	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.165000	0.68154	0.459000	0.35465	AAG	CNTNAP1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000108797		0.562	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1		0.00	70	0	A	NM_003632		40844640	+1			no_errors	ENST00000264638	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	G
CNTNAP3	79937	genome.wustl.edu	37	9	39102541	39102541	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:39102541delG	ENST00000297668.6	-	17	2781	c.2708delC	c.(2707-2709)cctfs	p.P903fs	CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.P902fs|CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.P815fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	903	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCCATCAGCAGGGGCAGGCTG	0.493																																																	0													4.0	4.0	4.0					9																	39102541		1911	3869	5780	SO:0001589	frameshift_variant	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2708delC	9.37:g.39102541delG	ENSP00000297668:p.Pro903fs		B1AMA0|Q9C0E9	Frame_Shift_Del	DEL	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.P903fs	ENST00000297668.6	37	c.2708	CCDS6616.1	9																																																																																			CNTNAP3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000106714		0.493	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1		0.00	44	0	G	NM_033655		39102541	-1			no_errors	ENST00000297668	ensembl	human	known	74_37	frame_shift_del	34.15	27	14	DEL	0.923	0
CNTRL	11064	genome.wustl.edu	37	9	123935992	123935992	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:123935992C>T	ENST00000373855.1	+	42	6984	c.6724C>T	c.(6724-6726)Cgt>Tgt	p.R2242C	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.R2242C|CNTRL_ENST00000373850.1_Missense_Mutation_p.R1690C			Q7Z7A1	CNTRL_HUMAN	centriolin	2242	Sufficient for interaction with HOOK2.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGAGAAACTGCGTCACCGGGA	0.468																																																	0													132.0	140.0	137.0					9																	123935992		2203	4300	6503	SO:0001583	missense	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6724C>T	9.37:g.123935992C>T	ENSP00000362962:p.Arg2242Cys		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.R2242C	ENST00000373855.1	37	c.6724	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169303	0.78339	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.36157	1.46;1.46;1.27	6.03	5.13	0.70059	.	.	.	.	.	T	0.54159	0.1841	L	0.56769	1.78	0.44295	D	0.997161	D	0.89917	1.0	D	0.64410	0.925	T	0.57745	-0.7758	9	0.72032	D	0.01	.	14.2383	0.65941	0.0:0.9281:0.0:0.0719	.	2242	Q7Z7A1	CNTRL_HUMAN	C	2242;2242;2242;399;1690;924	ENSP00000362962:R2242C;ENSP00000238341:R2242C;ENSP00000362956:R1690C	ENSP00000238341:R2242C	R	+	1	0	CNTRL	122975813	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.208000	0.58486	1.558000	0.49541	0.655000	0.94253	CGT	CNTRL	-	NULL	ENSG00000119397		0.468	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	-	0.00	36	0	C	NM_007018		123935992	+1	tier1	-	no_errors	ENST00000238341	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	T
COBLL1	22837	genome.wustl.edu	37	2	165551296	165551297	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:165551296_165551297delAA	ENST00000392717.2	-	13	2837_2838	c.2833_2834delTT	c.(2833-2835)ttgfs	p.L945fs	COBLL1_ENST00000375458.2_Frame_Shift_Del_p.L869fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.L907fs|COBLL1_ENST00000194871.6_Frame_Shift_Del_p.L974fs|COBLL1_ENST00000342193.4_Frame_Shift_Del_p.L907fs			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	945						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTGCATCTGCAAAAAAAAAGAG	0.416																																																	0																																										SO:0001589	frameshift_variant	0			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2833_2834delTT	2.37:g.165551302_165551303delAA	ENSP00000376478:p.Leu945fs		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Frame_Shift_Del	DEL	pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom	p.L974fs	ENST00000392717.2	37	c.2921_2920		2																																																																																			COBLL1	-	NULL	ENSG00000082438		0.416	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding			0.00	22	0	AA	NM_014900		165551297	-1	tier1		no_errors	ENST00000194871	ensembl	human	known	74_37	frame_shift_del	78.26	5	18	DEL	0.972:0.886	-
COL11A1	1301	genome.wustl.edu	37	1	103474067	103474067	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:103474067delC	ENST00000370096.3	-	15	1947	c.1635delG	c.(1633-1635)gggfs	p.G545fs	COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G429fs|COL11A1_ENST00000461720.1_5'Flank|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G506fs|COL11A1_ENST00000358392.2_Frame_Shift_Del_p.G557fs	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	545	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATGAACCAGGCCCCCCCTATA	0.368																																																	0													53.0	64.0	60.0					1																	103474067		2202	4300	6502	SO:0001589	frameshift_variant	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1635delG	1.37:g.103474067delC	ENSP00000359114:p.Gly545fs		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Frame_Shift_Del	DEL	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.P558fs	ENST00000370096.3	37	c.1671	CCDS778.1	1																																																																																			COL11A1	-	pfam_Collagen	ENSG00000060718		0.368	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1		0.00	46	0	C	NM_080630		103474067	-1	tier1		no_errors	ENST00000358392	ensembl	human	known	74_37	frame_shift_del	39.13	28	18	DEL	0.000	-
COL11A2	1302	genome.wustl.edu	37	6	33152023	33152023	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:33152023G>T	ENST00000341947.2	-	8	1245	c.1018C>A	c.(1018-1020)Cct>Act	p.P340T	COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.P293T|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.P319T|COL11A2_ENST00000374714.1_Missense_Mutation_p.P314T|COL11A2_ENST00000374708.4_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	340	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGCCCTTCAGGGGGGTCTGTG	0.617																																					Melanoma(1;90 116 3946 5341 17093)												0													63.0	65.0	64.0					6																	33152023		2203	4300	6503	SO:0001583	missense	0			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000341947.2:c.1018C>A	6.37:g.33152023G>T	ENSP00000339915:p.Pro340Thr		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.P340T	ENST00000341947.2	37	c.1018		6	.	.	.	.	.	.	.	.	.	.	G	9.638	1.138111	0.21123	.	.	ENSG00000204248	ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000457788	D;D;D;D;D	0.89875	-2.23;-2.29;-2.31;-2.29;-2.58	3.74	3.74	0.42951	.	0.585597	0.15681	N	0.249935	T	0.71099	0.3300	N	0.05078	-0.115	0.80722	D	1	D	0.58268	0.982	P	0.49853	0.624	T	0.69363	-0.5165	10	0.13470	T	0.59	.	11.3108	0.49362	0.0:0.0:1.0:0.0	.	340	P13942	COBA2_HUMAN	T	340;319;314;293;340	ENSP00000339915:P340T;ENSP00000350079:P319T;ENSP00000363846:P314T;ENSP00000363845:P293T;ENSP00000405520:P340T	ENSP00000339915:P340T	P	-	1	0	COL11A2	33260001	0.986000	0.35501	0.896000	0.35187	0.644000	0.38419	1.465000	0.35299	2.360000	0.80028	0.549000	0.68633	CCT	COL11A2	-	NULL	ENSG00000204248		0.617	COL11A2-201	KNOWN	basic|appris_candidate_longest	protein_coding	COL11A2	HGNC	protein_coding		-	0.00	51	0	G			33152023	-1	tier1	-	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.910	T
COL13A1	1305	genome.wustl.edu	37	10	71658500	71658500	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:71658500delA	ENST00000398978.3	+	14	1254	c.762delA	c.(760-762)atafs	p.I254fs	COL13A1_ENST00000398969.3_Frame_Shift_Del_p.I197fs|COL13A1_ENST00000522165.1_Frame_Shift_Del_p.I235fs|COL13A1_ENST00000517713.1_Intron|COL13A1_ENST00000520267.1_Frame_Shift_Del_p.I197fs|COL13A1_ENST00000398964.3_Frame_Shift_Del_p.I225fs|COL13A1_ENST00000357811.3_Intron|COL13A1_ENST00000398968.3_Frame_Shift_Del_p.I235fs|COL13A1_ENST00000398972.3_Frame_Shift_Del_p.I254fs|COL13A1_ENST00000398974.3_Frame_Shift_Del_p.I242fs|COL13A1_ENST00000356340.3_Frame_Shift_Del_p.I254fs|COL13A1_ENST00000354547.3_Intron|COL13A1_ENST00000398973.3_Frame_Shift_Del_p.I254fs|COL13A1_ENST00000398966.3_Intron|COL13A1_ENST00000398971.3_Frame_Shift_Del_p.I254fs|COL13A1_ENST00000520133.1_Intron	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CCCCGGTCATAAAAAGGCGGA	0.587																																																	0													80.0	77.0	78.0					10																	71658500		2003	4160	6163	SO:0001589	frameshift_variant	0			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.762delA	10.37:g.71658500delA	ENSP00000381949:p.Ile254fs			Frame_Shift_Del	DEL	pfam_Collagen	p.R256fs	ENST00000398978.3	37	c.762	CCDS44419.1	10																																																																																			COL13A1	-	NULL	ENSG00000197467		0.587	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1		0.00	54	0	A	NM_005203		71658500	+1	tier1		no_errors	ENST00000356340	ensembl	human	known	74_37	frame_shift_del	33.33	36	18	DEL	0.992	-
COL13A1	1305	genome.wustl.edu	37	10	71697406	71697406	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:71697406G>A	ENST00000398978.3	+	33	2272	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N	COL13A1_ENST00000398969.3_Missense_Mutation_p.D522N|COL13A1_ENST00000522165.1_Missense_Mutation_p.D575N|COL13A1_ENST00000517713.1_Missense_Mutation_p.D557N|COL13A1_ENST00000520267.1_Missense_Mutation_p.D522N|COL13A1_ENST00000398964.3_Missense_Mutation_p.D565N|COL13A1_ENST00000357811.3_Missense_Mutation_p.D572N|COL13A1_ENST00000398968.3_Missense_Mutation_p.D575N|COL13A1_ENST00000398972.3_Missense_Mutation_p.D580N|COL13A1_ENST00000398974.3_Missense_Mutation_p.D582N|COL13A1_ENST00000356340.3_Missense_Mutation_p.D594N|COL13A1_ENST00000354547.3_Missense_Mutation_p.D572N|COL13A1_ENST00000398973.3_Missense_Mutation_p.D580N|COL13A1_ENST00000398966.3_Missense_Mutation_p.D572N|COL13A1_ENST00000398971.3_Missense_Mutation_p.D579N|COL13A1_ENST00000520133.1_Missense_Mutation_p.D528N	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						AGCAGGACTAGATGGAGCAAA	0.552																																																	0													46.0	49.0	48.0					10																	71697406		1892	4128	6020	SO:0001583	missense	0			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.1780G>A	10.37:g.71697406G>A	ENSP00000381949:p.Asp594Asn			Missense_Mutation	SNP	pfam_Collagen	p.D594N	ENST00000398978.3	37	c.1780	CCDS44419.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.69|14.69	2.610016|2.610016	0.46527|0.46527	.|.	.|.	ENSG00000197467|ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133|ENST00000456019	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.94232|.	-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.2;-3.38;-3.24;-3.2;-3.2;-3.24;-3.2;-3.24;-3.24;-3.38|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.300125|.	0.31082|.	N|.	0.008298|.	T|T	0.54919|0.54919	0.1888|0.1888	L|L	0.37630|0.37630	1.12|1.12	0.32942|0.32942	D|D	0.51857|0.51857	B;P;B;B;B;B;D;P;P;B;B;B;B;P;B;B;P;P|.	0.53312|.	0.048;0.549;0.241;0.241;0.428;0.284;0.959;0.883;0.92;0.155;0.284;0.241;0.241;0.515;0.241;0.241;0.801;0.949|.	B;B;B;B;B;B;P;B;P;B;B;B;B;B;B;B;B;P|.	0.50860|.	0.089;0.346;0.154;0.154;0.312;0.239;0.652;0.306;0.652;0.073;0.345;0.154;0.154;0.208;0.154;0.154;0.315;0.52|.	T|T	0.60459|0.60459	-0.7259|-0.7259	10|5	0.52906|.	T|.	0.07|.	-2.4085|-2.4085	17.5865|17.5865	0.87983|0.87983	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	522;594;579;580;580;572;575;580;582;579;528;572;557;580;575;572;565;594|.	B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987|.	.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.|.	N|K	582;579;575;572;565;522;594;580;580;594;572;572;522;557;575;528|62	ENSP00000381946:D582N;ENSP00000381943:D579N;ENSP00000381940:D575N;ENSP00000381938:D572N;ENSP00000381936:D565N;ENSP00000381941:D522N;ENSP00000348695:D594N;ENSP00000381944:D580N;ENSP00000381945:D580N;ENSP00000381949:D594N;ENSP00000346553:D572N;ENSP00000350463:D572N;ENSP00000428057:D522N;ENSP00000430061:D557N;ENSP00000428342:D575N;ENSP00000430173:D528N|.	ENSP00000346553:D572N|.	D|R	+|+	1|2	0|0	COL13A1|COL13A1	71367412|71367412	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.955000|0.955000	0.61496|0.61496	6.292000|6.292000	0.72725|0.72725	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	GAT|AGA	COL13A1	-	pfam_Collagen	ENSG00000197467		0.552	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1	-	0.00	67	0	G	NM_005203		71697406	+1	tier1	-	no_errors	ENST00000356340	ensembl	human	known	74_37	missense	54.17	11	13	SNP	1.000	A
COL14A1	7373	genome.wustl.edu	37	8	121292216	121292216	+	Missense_Mutation	SNP	C	C	T	rs369127166		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:121292216C>T	ENST00000297848.3	+	29	3794	c.3524C>T	c.(3523-3525)tCg>tTg	p.S1175L	COL14A1_ENST00000247781.3_Missense_Mutation_p.S1080L|COL14A1_ENST00000309791.4_Missense_Mutation_p.S1175L	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCAGATTACTCGGAGTTGGTT	0.403																																																	0								C	LEU/SER	0,4406		0,0,2203	121.0	110.0	113.0		3524	5.1	0.9	8		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL14A1	NM_021110.1	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	1175/1797	121292216	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3524C>T	8.37:g.121292216C>T	ENSP00000297848:p.Ser1175Leu			Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.S1175L	ENST00000297848.3	37	c.3524	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742307	0.49151	0.0	1.16E-4	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.83914	-1.78;-1.78;-1.78	5.11	5.11	0.69529	von Willebrand factor, type A (3);	0.242690	0.40728	N	0.001030	T	0.74711	0.3752	L	0.37466	1.105	0.80722	D	1	P	0.49090	0.919	B	0.35655	0.207	T	0.76263	-0.3023	10	0.33940	T	0.23	.	18.7124	0.91662	0.0:1.0:0.0:0.0	.	1175	Q05707	COEA1_HUMAN	L	1175;1175;1080	ENSP00000311809:S1175L;ENSP00000297848:S1175L;ENSP00000247781:S1080L	ENSP00000247781:S1080L	S	+	2	0	COL14A1	121361397	1.000000	0.71417	0.930000	0.37139	0.355000	0.29361	4.844000	0.62846	2.656000	0.90262	0.655000	0.94253	TCG	COL14A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000187955		0.403	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	-	0.00	78	0	C	NM_021110		121292216	+1	tier1	-	no_errors	ENST00000297848	ensembl	human	known	74_37	missense	30.50	98	43	SNP	0.986	T
COL21A1	81578	genome.wustl.edu	37	6	56035809	56035809	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:56035809delT	ENST00000244728.5	-	4	1155	c.758delA	c.(757-759)aagfs	p.K253fs	COL21A1_ENST00000370819.1_Frame_Shift_Del_p.K253fs|COL21A1_ENST00000535941.1_Frame_Shift_Del_p.K253fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	253	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCCTTTTATCTTTTTTGGTGA	0.338																																																	0													156.0	138.0	144.0					6																	56035809		1820	4075	5895	SO:0001589	frameshift_variant	0			AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.758delA	6.37:g.56035809delT	ENSP00000244728:p.Lys253fs		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Frame_Shift_Del	DEL	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.K253fs	ENST00000244728.5	37	c.758	CCDS55025.1	6																																																																																			COL21A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000124749		0.338	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	COL21A1	HGNC	protein_coding	OTTHUMT00000041004.2		0.00	97	0	T			56035809	-1	tier1		no_errors	ENST00000244728	ensembl	human	known	74_37	frame_shift_del	31.07	71	32	DEL	1.000	-
COL25A1	84570	genome.wustl.edu	37	4	109773420	109773420	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:109773420G>T	ENST00000399132.1	-	26	1891	c.1361C>A	c.(1360-1362)cCt>cAt	p.P454H	COL25A1_ENST00000399127.1_Missense_Mutation_p.P427H|COL25A1_ENST00000399126.1_Missense_Mutation_p.P454H	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TTGAGGTCCAGGAGGTCCAGG	0.353																																																	0													76.0	74.0	75.0					4																	109773420		1823	4080	5903	SO:0001583	missense	0			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1361C>A	4.37:g.109773420G>T	ENSP00000382083:p.Pro454His			Missense_Mutation	SNP	pfam_Collagen	p.P454H	ENST00000399132.1	37	c.1361	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979929	0.53827	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.96967	-3.19;-4.19;-3.19	5.67	5.67	0.87782	.	0.051361	0.85682	D	0.000000	D	0.98378	0.9461	M	0.86864	2.845	0.52501	D	0.999957	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98635	1.0673	9	.	.	.	-5.1748	19.3463	0.94363	0.0:0.0:1.0:0.0	.	454;454	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	H	454;456;435;427;454;384	ENSP00000382083:P454H;ENSP00000382078:P427H;ENSP00000382077:P454H	.	P	-	2	0	COL25A1	109992869	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	7.436000	0.80404	2.659000	0.90383	0.650000	0.86243	CCT	COL25A1	-	pfam_Collagen	ENSG00000188517		0.353	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	HGNC	protein_coding	OTTHUMT00000315938.2	-	0.00	55	0	G	NM_032518		109773420	-1	tier1	-	no_errors	ENST00000399132	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
COL27A1	85301	genome.wustl.edu	37	9	116924994	116924994	+	Splice_Site	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:116924994delG	ENST00000356083.3	+	2	453		c.e2-1			NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1						extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTGGTCTCTAGGGGGTTTCTC	0.582																																																	0													183.0	171.0	175.0					9																	116924994		2203	4300	6503	SO:0001630	splice_region_variant	0			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.63-1G>-	9.37:g.116924994delG			Q66K43|Q96JF7	Splice_Site	DEL	-	e2-1	ENST00000356083.3	37	c.63-1	CCDS6802.1	9																																																																																			COL27A1	-	-	ENSG00000196739		0.582	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1		0.00	15	0	G	NM_032888	Intron	116924994	+1	tier1		no_errors	ENST00000356083	ensembl	human	known	74_37	splice_site_del	35.71	9	5	DEL	1.000	-
COL3A1	1281	genome.wustl.edu	37	2	189868173	189868173	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:189868173G>T	ENST00000304636.3	+	37	2760	c.2590G>T	c.(2590-2592)Ggc>Tgc	p.G864C	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	864	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGGTGAACGTGGCAGTCCTGG	0.378																																																	0													105.0	107.0	106.0					2																	189868173		2203	4300	6503	SO:0001583	missense	0			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2590G>T	2.37:g.189868173G>T	ENSP00000304408:p.Gly864Cys		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.G864C	ENST00000304636.3	37	c.2590	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955447	0.73902	.	.	ENSG00000168542	ENST00000304636	D	0.99186	-5.53	5.61	5.61	0.85477	.	0.000000	0.52532	D	0.000069	D	0.99594	0.9853	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97889	1.0296	10	0.87932	D	0	.	19.6481	0.95790	0.0:0.0:1.0:0.0	.	864	P02461	CO3A1_HUMAN	C	864	ENSP00000304408:G864C	ENSP00000304408:G864C	G	+	1	0	COL3A1	189576418	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.164000	0.94755	2.651000	0.90000	0.557000	0.71058	GGC	COL3A1	-	NULL	ENSG00000168542		0.378	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	-	0.00	67	0	G	NM_000090		189868173	+1	tier1	-	no_errors	ENST00000304636	ensembl	human	known	74_37	missense	8.70	63	6	SNP	1.000	T
COL4A2	1284	genome.wustl.edu	37	13	111117918	111117918	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:111117918G>T	ENST00000360467.5	+	25	2249	c.1943G>T	c.(1942-1944)gGc>gTc	p.G648V	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	648	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCTTCCTGGGCCCTCCTGGC	0.597																																																	0													28.0	32.0	31.0					13																	111117918		1869	4093	5962	SO:0001583	missense	0			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1943G>T	13.37:g.111117918G>T	ENSP00000353654:p.Gly648Val		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G648V	ENST00000360467.5	37	c.1943	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	G	9.563	1.119095	0.20877	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	T	0.80214	-1.35	4.82	3.97	0.46021	.	0.284492	0.25050	N	0.033534	D	0.89993	0.6876	H	0.94183	3.505	0.80722	D	1	D	0.58268	0.982	P	0.55824	0.785	D	0.91742	0.5405	10	0.87932	D	0	.	12.4178	0.55504	0.0825:0.0:0.9175:0.0	.	648	P08572	CO4A2_HUMAN	V	648	ENSP00000353654:G648V	ENSP00000257309:G648V	G	+	2	0	COL4A2	109915919	1.000000	0.71417	0.004000	0.12327	0.076000	0.17211	6.440000	0.73435	1.023000	0.39654	0.462000	0.41574	GGC	COL4A2	-	NULL	ENSG00000134871		0.597	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2		0.00	47	0	G	NM_001846		111117918	+1			no_errors	ENST00000360467	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.554	T
COL4A5	1287	genome.wustl.edu	37	X	107929267	107929267	+	Missense_Mutation	SNP	C	C	T	rs151278542	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:107929267C>T	ENST00000361603.2	+	46	4449	c.4205C>T	c.(4204-4206)aCt>aTt	p.T1402I	COL4A5_ENST00000328300.6_Missense_Mutation_p.T1408I	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1402	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTAGGTCCAACTGGCCCTCCA	0.498									Alport syndrome with Diffuse Leiomyomatosis																																								0													57.0	49.0	51.0					X																	107929267		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4205C>T	X.37:g.107929267C>T	ENSP00000354505:p.Thr1402Ile		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.T1408I	ENST00000361603.2	37	c.4223	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	C	9.189	1.025505	0.19512	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.95885	-3.84;-3.84	5.14	0.951	0.19579	.	0.570912	0.19451	N	0.113940	D	0.90765	0.7101	L	0.46157	1.445	0.19300	N	0.999974	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.81638	-0.0842	10	0.48119	T	0.1	.	4.9193	0.13862	0.1463:0.2906:0.0:0.5632	.	1405;1402	E7EVY4;P29400	.;CO4A5_HUMAN	I	1408;1402;1408	ENSP00000331902:T1408I;ENSP00000354505:T1402I	ENSP00000331902:T1408I	T	+	2	0	COL4A5	107815923	0.969000	0.33509	0.968000	0.41197	0.595000	0.36748	0.656000	0.24948	-0.059000	0.13154	-0.354000	0.07668	ACT	COL4A5	-	pfam_Collagen	ENSG00000188153		0.498	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	-	0.00	32	0	C			107929267	+1	tier1	-	no_errors	ENST00000328300	ensembl	human	known	74_37	missense	14.81	23	4	SNP	0.781	T
COL5A2	1290	genome.wustl.edu	37	2	189904132	189904132	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:189904132G>A	ENST00000374866.3	-	51	4065	c.3791C>T	c.(3790-3792)aCg>aTg	p.T1264M		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1264					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCTGGGTCCGTTTTGTTTTT	0.522																																																	0													89.0	80.0	83.0					2																	189904132		2203	4300	6503	SO:0001583	missense	0			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3791C>T	2.37:g.189904132G>A	ENSP00000364000:p.Thr1264Met		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.T1264M	ENST00000374866.3	37	c.3791	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818832	0.50633	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.83250	-1.7	5.28	5.28	0.74379	.	0.000000	0.49916	D	0.000134	D	0.87752	0.6256	L	0.57536	1.79	0.49798	D	0.99982	D;D	0.89917	0.989;1.0	P;P	0.57324	0.649;0.818	D	0.86846	0.2020	10	0.39692	T	0.17	.	18.9001	0.92439	0.0:0.0:1.0:0.0	.	904;1264	Q5PR22;P05997	.;CO5A2_HUMAN	M	1264;904	ENSP00000364000:T1264M	ENSP00000364000:T1264M	T	-	2	0	COL5A2	189612377	1.000000	0.71417	0.993000	0.49108	0.748000	0.42578	6.210000	0.72176	2.451000	0.82905	0.655000	0.94253	ACG	COL5A2	-	NULL	ENSG00000204262		0.522	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	-	0.00	103	0	G	NM_000393		189904132	-1	tier1	-	no_errors	ENST00000374866	ensembl	human	known	74_37	missense	35.37	53	29	SNP	1.000	A
COL6A2	1292	genome.wustl.edu	37	21	47531407	47531407	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:47531407G>T	ENST00000300527.4	+	2	121	c.17G>T	c.(16-18)tGc>tTc	p.C6F	COL6A2_ENST00000409416.1_Missense_Mutation_p.C6F|COL6A2_ENST00000357838.4_Missense_Mutation_p.C6F|COL6A2_ENST00000397763.1_Missense_Mutation_p.C6F|COL6A2_ENST00000310645.5_Missense_Mutation_p.C6F	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	6					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGGCACCTGCTCCGTGCTC	0.652																																																	0													34.0	34.0	34.0					21																	47531407		2203	4300	6503	SO:0001583	missense	0			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.17G>T	21.37:g.47531407G>T	ENSP00000300527:p.Cys6Phe		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.C6F	ENST00000300527.4	37	c.17	CCDS13728.1	21	.	.	.	.	.	.	.	.	.	.	G	4.378	0.069679	0.08436	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000436769;ENST00000409416;ENST00000397763	D;D;D;T;D;D	0.89552	-2.44;-2.47;-2.53;-1.02;-2.53;-2.47	3.57	-1.84	0.07809	.	0.843606	0.10729	N	0.640888	T	0.70945	0.3282	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.56836	-0.7913	10	0.21540	T	0.41	-2.5219	3.4266	0.07413	0.2324:0.0:0.2729:0.4947	.	6;6;6	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	F	6	ENSP00000300527:C6F;ENSP00000350497:C6F;ENSP00000312529:C6F;ENSP00000390418:C6F;ENSP00000387115:C6F;ENSP00000380870:C6F	ENSP00000300527:C6F	C	+	2	0	COL6A2	46355835	0.004000	0.15560	0.000000	0.03702	0.010000	0.07245	0.492000	0.22435	-0.125000	0.11703	0.655000	0.94253	TGC	COL6A2	-	NULL	ENSG00000142173		0.652	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	-	0.00	61	0	G			47531407	+1	tier1	-	no_errors	ENST00000300527	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.000	T
COL6A2	1292	genome.wustl.edu	37	21	47532223	47532223	+	Missense_Mutation	SNP	G	G	A	rs143891262	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:47532223G>A	ENST00000300527.4	+	3	550	c.446G>A	c.(445-447)cGc>cAc	p.R149H	COL6A2_ENST00000409416.1_Missense_Mutation_p.R149H|COL6A2_ENST00000357838.4_Missense_Mutation_p.R149H|COL6A2_ENST00000397763.1_Missense_Mutation_p.R149H|COL6A2_ENST00000310645.5_Missense_Mutation_p.R149H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	149	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CGGCAGGACCGCAGCAAGGGC	0.692																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG	0,4400		0,0,2200	22.0	23.0	23.0		446,446,446	-8.2	0.0	21	dbSNP_134	23	2,8596		0,2,4297	yes	missense,missense,missense	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	29,29,29	0,2,6497	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	149/1020,149/919,149/829	47532223	2,12996	2200	4299	6499	SO:0001583	missense	0			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.446G>A	21.37:g.47532223G>A	ENSP00000300527:p.Arg149His		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R149H	ENST00000300527.4	37	c.446	CCDS13728.1	21	.	.	.	.	.	.	.	.	.	.	G	3.379	-0.126825	0.06795	0.0	2.33E-4	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000436769;ENST00000409416;ENST00000397763	D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	4.12	-8.24	0.01029	von Willebrand factor, type A (3);	2.662220	0.01323	N	0.010999	T	0.65207	0.2669	N	0.14661	0.345	0.09310	N	1	P;P;P	0.37466	0.476;0.596;0.459	B;B;B	0.29716	0.106;0.02;0.019	T	0.64626	-0.6363	10	0.44086	T	0.13	2.1635	3.2572	0.06836	0.1545:0.1872:0.4906:0.1676	.	149;149;149	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	H	149	ENSP00000300527:R149H;ENSP00000350497:R149H;ENSP00000312529:R149H;ENSP00000390418:R149H;ENSP00000387115:R149H;ENSP00000380870:R149H	ENSP00000300527:R149H	R	+	2	0	COL6A2	46356651	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.920000	0.04013	-2.001000	0.00964	0.467000	0.42956	CGC	COL6A2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000142173		0.692	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	-	0.00	19	0	G			47532223	+1	tier1	rs143891262	no_errors	ENST00000300527	ensembl	human	known	74_37	missense	36.36	7	4	SNP	0.000	A
COL6A3	1293	genome.wustl.edu	37	2	238253013	238253013	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:238253013G>T	ENST00000295550.4	-	36	8100	c.7648C>A	c.(7648-7650)Cag>Aag	p.Q2550K	COL6A3_ENST00000347401.3_Missense_Mutation_p.Q2349K|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q1943K|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q2344K|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q2344K|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q2350K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2550	Nonhelical region.|VWFA 11. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTGATGAGCTGCCGGTCTTCC	0.562																																																	0													159.0	160.0	159.0					2																	238253013		2203	4300	6503	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7648C>A	2.37:g.238253013G>T	ENSP00000295550:p.Gln2550Lys		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.Q2550K	ENST00000295550.4	37	c.7648	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509027	0.27036	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63;2.63	5.08	2.94	0.34122	von Willebrand factor, type A (3);	0.861652	0.09715	N	0.765127	T	0.17704	0.0425	L	0.29908	0.895	0.28682	N	0.905046	B;B;B;P	0.52316	0.101;0.101;0.082;0.952	B;B;B;P	0.58391	0.096;0.062;0.058;0.838	T	0.06752	-1.0809	10	0.11182	T	0.66	.	8.6835	0.34223	0.0:0.443:0.3733:0.1837	.	1943;1943;2344;2550	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	K	2550;2349;2344;1943;2344;2350	ENSP00000295550:Q2550K;ENSP00000315609:Q2349K;ENSP00000315873:Q2344K;ENSP00000418285:Q1943K;ENSP00000386844:Q2344K;ENSP00000295546:Q2350K	ENSP00000295550:Q2550K	Q	-	1	0	COL6A3	237917752	0.000000	0.05858	0.997000	0.53966	0.926000	0.56050	0.582000	0.23834	1.233000	0.43693	0.655000	0.94253	CAG	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.562	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2		0.00	31	0	G	NM_004369		238253013	-1			no_errors	ENST00000295550	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.866	T
COL7A1	1294	genome.wustl.edu	37	3	48616352	48616352	+	Splice_Site	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:48616352G>A	ENST00000328333.8	-	62	5531	c.5424C>T	c.(5422-5424)gaC>gaT	p.D1808D	MIR711_ENST00000390201.1_RNA|COL7A1_ENST00000454817.1_Splice_Site_p.D1808D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1808	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTCACTTACGTCTCTCCCTG	0.597																																																	0													77.0	63.0	68.0					3																	48616352		2203	4300	6503	SO:0001630	splice_region_variant	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5424+1C>T	3.37:g.48616352G>A			Q14054|Q16507	Silent	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.D1808	ENST00000328333.8	37	c.5424	CCDS2773.1	3																																																																																			COL7A1	-	NULL	ENSG00000114270		0.597	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	-	0.00	31	0	G	NM_000094	Silent	48616352	-1	tier1	-	no_errors	ENST00000328333	ensembl	human	known	74_37	silent	46.15	14	12	SNP	0.963	A
COL9A1	1297	genome.wustl.edu	37	6	70991130	70991130	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:70991130G>A	ENST00000357250.6	-	8	997	c.839C>T	c.(838-840)cCg>cTg	p.P280L	COL9A1_ENST00000489611.1_5'Flank|COL9A1_ENST00000370496.3_Missense_Mutation_p.P280L|COL9A1_ENST00000320755.7_Missense_Mutation_p.P37L|COL9A1_ENST00000370499.4_Missense_Mutation_p.P37L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	280	Collagen-like 1.|Triple-helical region (COL3).			PP -> AS (in Ref. 1; CAA38276/CAA38277). {ECO:0000305}.	axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGGGGGGCCCGGAGGCCCGGG	0.597																																																	0													22.0	26.0	24.0					6																	70991130		2203	4300	6503	SO:0001583	missense	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.839C>T	6.37:g.70991130G>A	ENSP00000349790:p.Pro280Leu		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.P280L	ENST00000357250.6	37	c.839	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270289	0.40194	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499;ENST00000370496	D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.96901	0.8988	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96677	0.9501	10	0.59425	D	0.04	.	18.8993	0.92435	0.0:0.0:1.0:0.0	.	280;37	P20849;P20849-2	CO9A1_HUMAN;.	L	280;37;37;280	ENSP00000349790:P280L;ENSP00000315252:P37L;ENSP00000359530:P37L;ENSP00000359527:P280L	ENSP00000315252:P37L	P	-	2	0	COL9A1	71047851	1.000000	0.71417	0.668000	0.29813	0.008000	0.06430	7.076000	0.76806	2.722000	0.93159	0.591000	0.81541	CCG	COL9A1	-	pfam_Collagen	ENSG00000112280		0.597	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	-	0.00	42	0	G			70991130	-1	tier1	-	no_errors	ENST00000357250	ensembl	human	known	74_37	missense	29.17	17	7	SNP	0.974	A
COLEC10	10584	genome.wustl.edu	37	8	120101974	120101974	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:120101974A>G	ENST00000332843.2	+	2	245	c.204A>G	c.(202-204)ggA>ggG	p.G68G	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	68	Collagen-like.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GCAAAGTGGGACGCATGGGGC	0.418																																																	0													129.0	111.0	117.0					8																	120101974		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.204A>G	8.37:g.120101974A>G			Q3SYH6|Q6UW19	Silent	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.G68	ENST00000332843.2	37	c.204	CCDS6327.1	8																																																																																			COLEC10	-	pfam_Collagen	ENSG00000184374		0.418	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC10	HGNC	protein_coding	OTTHUMT00000381225.1	-	0.00	40	0	A			120101974	+1	tier1	-	no_errors	ENST00000332843	ensembl	human	known	74_37	silent	23.81	48	15	SNP	0.489	G
COPA	1314	genome.wustl.edu	37	1	160261861	160261861	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:160261861G>A	ENST00000241704.7	-	29	3317	c.3088C>T	c.(3088-3090)Cgt>Tgt	p.R1030C	COPA_ENST00000368069.3_Missense_Mutation_p.R1039C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1030					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGATGGAACGGAATTTTTCC	0.512											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													181.0	180.0	180.0					1																	160261861		2203	4300	6503	SO:0001583	missense	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3088C>T	1.37:g.160261861G>A	ENSP00000241704:p.Arg1030Cys	1807	Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R1039C	ENST00000241704.7	37	c.3115	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112924	0.77210	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.49139	0.79;0.79	5.51	5.51	0.81932	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70692	0.3253	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68483	0.955;0.958	T	0.75811	-0.3186	10	0.72032	D	0.01	-15.1108	18.1556	0.89689	0.0:0.0:1.0:0.0	.	1030;1039	P53621;P53621-2	COPA_HUMAN;.	C	1039;1030	ENSP00000357048:R1039C;ENSP00000241704:R1030C	ENSP00000241704:R1030C	R	-	1	0	COPA	158528485	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.604000	0.67626	2.873000	0.98535	0.561000	0.74099	CGT	COPA	-	pfam_Coatomer_asu_C,pirsf_Coatomer_asu	ENSG00000122218		0.512	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	-	0.00	50	0	G	NM_004371		160261861	-1	tier1	-	no_errors	ENST00000368069	ensembl	human	known	74_37	missense	27.63	55	21	SNP	1.000	A
COPB1	1315	genome.wustl.edu	37	11	14486551	14486551	+	Silent	SNP	C	C	T	rs567593749		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:14486551C>T	ENST00000249923.3	-	18	2616	c.2316G>A	c.(2314-2316)ccG>ccA	p.P772P	COPB1_ENST00000439561.2_Silent_p.P772P	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	772					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|viral process (GO:0016032)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle (GO:0005798)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TCAAAGGAGACGGCTTTTCCA	0.388													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15560	0.0		0.0	False		,,,				2504	0.0																0													90.0	89.0	89.0					11																	14486551		2200	4294	6494	SO:0001819	synonymous_variant	0			BC037280	CCDS7815.1	11p15.2	2011-05-20	2006-06-30	2006-06-30	ENSG00000129083	ENSG00000129083			2231	protein-coding gene	gene with protein product		600959	"""coatomer protein complex, subunit beta"""	COPB		7982906	Standard	NM_016451		Approved		uc001mlg.2	P53618	OTTHUMG00000165824	ENST00000249923.3:c.2316G>A	11.37:g.14486551C>T			D3DQX0|Q6GTT7|Q9NTK2|Q9UNW7	Silent	SNP	pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1	p.P772	ENST00000249923.3	37	c.2316	CCDS7815.1	11																																																																																			COPB1	-	pfam_Coatomer_bsu_C,pirsf_COPB1	ENSG00000129083		0.388	COPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB1	HGNC	protein_coding	OTTHUMT00000386410.1	-	0.00	46	0	C	NM_016451		14486551	-1	tier1	-	no_errors	ENST00000249923	ensembl	human	known	74_37	silent	45.00	22	18	SNP	0.443	T
COQ10B	80219	genome.wustl.edu	37	2	198318518	198318518	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:198318518delT	ENST00000263960.2	+	1	242				COQ10B_ENST00000488445.1_3'UTR|COQ10B_ENST00000409010.1_5'UTR|COQ10B_ENST00000545340.1_5'UTR|COQ10B_ENST00000409398.1_Intron	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)							mitochondrial inner membrane (GO:0005743)				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGGAGAAGGCTTTTTTTTGCG	0.562																																																	0																																										SO:0001627	intron_variant	0			AK023510	CCDS2319.1	2q33.1	2008-02-05	2006-04-04		ENSG00000115520	ENSG00000115520			25819	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog B (yeast)"""				Standard	NM_025147		Approved	FLJ13448	uc002uuh.1	Q9H8M1	OTTHUMG00000132745	ENST00000263960.2:c.104+130T>-	2.37:g.198318518delT			B7Z1Y4	RNA	DEL	-	NULL	ENST00000263960.2	37	NULL	CCDS2319.1	2																																																																																			COQ10B	-	-	ENSG00000115520		0.562	COQ10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COQ10B	HGNC	protein_coding	OTTHUMT00000256105.2		0.00	36	0	T	NM_025147		198318518	+1	tier1		no_errors	ENST00000488445	ensembl	human	known	74_37	rna	45.71	19	16	DEL	0.002	-
CORIN	10699	genome.wustl.edu	37	4	47788868	47788868	+	Missense_Mutation	SNP	C	C	T	rs186748019	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:47788868C>T	ENST00000273857.4	-	3	282	c.283G>A	c.(283-285)Gat>Aat	p.D95N	CORIN_ENST00000508498.1_5'UTR|CORIN_ENST00000505909.1_Missense_Mutation_p.D95N|CORIN_ENST00000504584.1_Missense_Mutation_p.D95N|CORIN_ENST00000502252.1_Intron	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	95					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGAATAACATCGGACCCTTGG	0.413													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18081	0.0		0.0	False		,,,				2504	0.0																0								C	ASN/ASP	3,4403	6.2+/-15.9	0,3,2200	95.0	88.0	90.0		283	2.9	0.0	4		90	0,8600		0,0,4300	yes	missense	CORIN	NM_006587.2	23	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	95/1043	47788868	3,13003	2203	4300	6503	SO:0001583	missense	0			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.283G>A	4.37:g.47788868C>T	ENSP00000273857:p.Asp95Asn		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.D95N	ENST00000273857.4	37	c.283	CCDS3477.1	4	.	.	.	.	.	.	.	.	.	.	C	9.386	1.074253	0.20227	6.81E-4	0.0	ENSG00000145244	ENST00000273857;ENST00000505909;ENST00000504584	D;D;D	0.93133	-2.75;-2.56;-3.17	4.66	2.91	0.33838	.	0.981664	0.08340	N	0.960994	D	0.83613	0.5292	N	0.24115	0.695	0.09310	N	1	P;P;B	0.43352	0.495;0.804;0.368	B;B;B	0.25884	0.043;0.064;0.017	T	0.73148	-0.4074	10	0.30854	T	0.27	.	7.1553	0.25635	0.0:0.7955:0.0:0.2045	.	95;95;95	B7Z4R1;B4E2W9;Q9Y5Q5	.;.;CORIN_HUMAN	N	95	ENSP00000273857:D95N;ENSP00000425401:D95N;ENSP00000423216:D95N	ENSP00000273857:D95N	D	-	1	0	CORIN	47483625	0.370000	0.25047	0.004000	0.12327	0.025000	0.11179	1.336000	0.33850	0.700000	0.31782	0.461000	0.40582	GAT	CORIN	-	pirsf_Peptidase_S1A_corin	ENSG00000145244		0.413	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	HGNC	protein_coding	OTTHUMT00000216906.2	-	0.00	49	0	C			47788868	-1	tier1	-	no_errors	ENST00000273857	ensembl	human	known	74_37	missense	41.27	37	26	SNP	0.004	T
COX16	51241	genome.wustl.edu	37	14	70793016	70793017	+	3'UTR	DEL	AA	AA	-	rs74353890|rs572419917	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:70793016_70793017delAA	ENST00000389912.6	-	0	497_498				SYNJ2BP-COX16_ENST00000555276.1_RNA|COX16_ENST00000557612.1_5'UTR	NM_016468.6	NP_057552.1	Q9P0S2	COX16_HUMAN	COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)							integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)				large_intestine(1)|lung(2)	3						atttttatttaaaaaaaaaaaa	0.356																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF151037	CCDS9802.1	14q24.2	2013-05-10	2008-08-14	2008-06-23	ENSG00000133983	ENSG00000133983			20213	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 112"""	C14orf112		11042152, 15596615	Standard	NM_016468		Approved	HSPC203		Q9P0S2	OTTHUMG00000171238	ENST00000389912.6:c.*34TT>-	14.37:g.70793026_70793027delAA			A6NDT5|A8K3X8	RNA	DEL	-	NULL	ENST00000389912.6	37	NULL	CCDS9802.1	14																																																																																			COX16	-	-	ENSG00000133983		0.356	COX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX16	HGNC	protein_coding	OTTHUMT00000412470.2		0.00	29	0	AA	NM_016468		70793017	-1	tier1		no_errors	ENST00000557612	ensembl	human	known	74_37	rna	56.76	16	21	DEL	0.002:0.001	-
CPB1	1360	genome.wustl.edu	37	3	148558742	148558742	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:148558742C>T	ENST00000491148.1	+	6	788	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	CPB1_ENST00000282957.4_Missense_Mutation_p.R152C			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	152						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R152C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ATTTGAGGGACGCGCTATTTA	0.428																																																	1	Substitution - Missense(1)	ovary(1)											145.0	127.0	133.0					3																	148558742		2203	4300	6503	SO:0001583	missense	0			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.454C>T	3.37:g.148558742C>T	ENSP00000417222:p.Arg152Cys		O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.R152C	ENST00000491148.1	37	c.454	CCDS33874.1	3	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729464	0.48833	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.28895	1.59;1.59	5.29	3.44	0.39384	Peptidase M14, carboxypeptidase A (3);	0.171581	0.51477	D	0.000097	T	0.69396	0.3106	H	0.98314	4.2	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.80993	-0.1134	10	0.87932	D	0	.	13.9431	0.64069	0.2933:0.7067:0.0:0.0	.	152	P15086	CBPB1_HUMAN	C	152	ENSP00000417222:R152C;ENSP00000282957:R152C	ENSP00000282957:R152C	R	+	1	0	CPB1	150041432	0.996000	0.38824	0.626000	0.29213	0.501000	0.33797	3.484000	0.53201	0.561000	0.29186	0.655000	0.94253	CGC	CPB1	-	pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14	ENSG00000153002		0.428	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB1	HGNC	protein_coding	OTTHUMT00000355928.1	-	0.00	35	0	C	NM_001871		148558742	+1	tier1	-	no_errors	ENST00000282957	ensembl	human	known	74_37	missense	34.15	27	14	SNP	0.992	T
CPEB4	80315	genome.wustl.edu	37	5	173370047	173370047	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:173370047G>T	ENST00000265085.5	+	4	2731	c.1277G>T	c.(1276-1278)aGg>aTg	p.R426M	CPEB4_ENST00000519835.1_Intron|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000334035.5_Missense_Mutation_p.R409M|CPEB4_ENST00000517880.1_Intron|CPEB4_ENST00000522336.1_Intron|CPEB4_ENST00000520867.1_Intron	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	426					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TATGGGCGAAGGAGAGGTAAC	0.358																																																	0													193.0	199.0	197.0					5																	173370047		2203	4300	6503	SO:0001583	missense	0			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1277G>T	5.37:g.173370047G>T	ENSP00000265085:p.Arg426Met		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R426M	ENST00000265085.5	37	c.1277	CCDS4390.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.142582	0.94560	.	.	ENSG00000113742	ENST00000265085;ENST00000334035	T;T	0.51325	0.71;0.84	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.98	T	0.61884	-0.6971	10	0.44086	T	0.13	-16.7923	20.181	0.98201	0.0:0.0:1.0:0.0	.	409;426	Q17RY0-2;Q17RY0	.;CPEB4_HUMAN	M	426;409	ENSP00000265085:R426M;ENSP00000334533:R409M	ENSP00000265085:R426M	R	+	2	0	CPEB4	173302653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.772000	0.98984	2.840000	0.97914	0.655000	0.94253	AGG	CPEB4	-	NULL	ENSG00000113742		0.358	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPEB4	HGNC	protein_coding	OTTHUMT00000252964.2	-	0.00	53	0	G	NM_030627		173370047	+1	tier1	-	no_errors	ENST00000265085	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
CPED1	79974	genome.wustl.edu	37	7	120704315	120704315	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:120704315G>A	ENST00000310396.5	+	5	1031	c.564G>A	c.(562-564)caG>caA	p.Q188Q	CPED1_ENST00000423795.1_5'UTR|CPED1_ENST00000450913.2_Silent_p.Q188Q	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	188						endoplasmic reticulum (GO:0005783)											CAGAAATACAGCAGCCACTTT	0.388																																																	0													101.0	102.0	101.0					7																	120704315		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.564G>A	7.37:g.120704315G>A			A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Silent	SNP	NULL	p.Q188	ENST00000310396.5	37	c.564	CCDS34739.1	7																																																																																			CPED1	-	NULL	ENSG00000106034		0.388	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	-	0.00	81	0	G	NM_024913		120704315	+1	tier1	-	no_errors	ENST00000310396	ensembl	human	known	74_37	silent	37.21	53	32	SNP	1.000	A
CPLX4	339302	genome.wustl.edu	37	18	56963955	56963955	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:56963955G>A	ENST00000299721.3	-	3	644	c.458C>T	c.(457-459)gCg>gTg	p.A153V	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	153					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)		p.A153V(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CTTCTGCTCCGCTGTCTGCTT	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)											91.0	84.0	87.0					18																	56963955		2203	4300	6503	SO:0001583	missense	0			AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.458C>T	18.37:g.56963955G>A	ENSP00000299721:p.Ala153Val		F1T0L6	Missense_Mutation	SNP	pfam_Synaphin	p.A153V	ENST00000299721.3	37	c.458	CCDS11973.1	18	.	.	.	.	.	.	.	.	.	.	G	34	5.349439	0.95830	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.81331	-0.0981	9	0.72032	D	0.01	-9.7614	19.3422	0.94347	0.0:0.0:1.0:0.0	.	153	Q7Z7G2	CPLX4_HUMAN	V	153	.	ENSP00000299721:A153V	A	-	2	0	CPLX4	55114935	1.000000	0.71417	0.205000	0.23548	0.994000	0.84299	9.393000	0.97256	2.653000	0.90120	0.561000	0.74099	GCG	CPLX4	-	NULL	ENSG00000166569		0.498	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPLX4	HGNC	protein_coding	OTTHUMT00000256127.1	-	0.00	65	0	G	NM_181654		56963955	-1	tier1	-	no_errors	ENST00000299721	ensembl	human	known	74_37	missense	34.43	40	21	SNP	1.000	A
CPNE6	9362	genome.wustl.edu	37	14	24542776	24542776	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:24542776delT	ENST00000397016.2	+	4	548	c.237delT	c.(235-237)tatfs	p.Y79fs	CPNE6_ENST00000216775.2_Frame_Shift_Del_p.Y79fs|CPNE6_ENST00000537691.1_Frame_Shift_Del_p.Y134fs|CPNE6_ENST00000560092.1_3'UTR	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	79	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCCTTGAGTATTTTTTTGAGG	0.597																																																	0													86.0	81.0	83.0					14																	24542776		2203	4300	6503	SO:0001589	frameshift_variant	0			AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.237delT	14.37:g.24542776delT	ENSP00000380211:p.Tyr79fs		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Frame_Shift_Del	DEL	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.F136fs	ENST00000397016.2	37	c.402	CCDS9607.1	14																																																																																			CPNE6	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom	ENSG00000100884		0.597	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE6	HGNC	protein_coding	OTTHUMT00000071869.5		0.00	59	0	T			24542776	+1	tier1		no_errors	ENST00000537691	ensembl	human	known	74_37	frame_shift_del	30.36	39	17	DEL	1.000	-
CPNE8	144402	genome.wustl.edu	37	12	39047419	39047420	+	3'UTR	INS	-	-	AAA	rs2730947|rs59710225|rs66915084|rs375756966	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:39047419_39047420insAAA	ENST00000331366.5	-	0	2055_2056				CPNE8_ENST00000538596.2_3'UTR|CPNE8_ENST00000546603.1_5'UTR	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII							extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CTGTTTCTGTTAAAAAAAAAAa	0.312																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.*265->TTT	12.37:g.39047426_39047428dupAAA			Q2TB41|Q86VY2	RNA	INS	-	NULL	ENST00000331366.5	37	NULL	CCDS8733.1	12																																																																																			CPNE8	-	-	ENSG00000139117		0.312	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1		0.00	35	0	-	NM_153634		39047420	-1	tier1		no_errors	ENST00000546603	ensembl	human	known	74_37	rna	10.00	54	6	INS	0.031:0.001	AAA
CPNE8	144402	genome.wustl.edu	37	12	39047419	39047420	+	3'UTR	INS	-	-	AAAA	rs2730947|rs59710225|rs66915084|rs375756966	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:39047419_39047420insAAAA	ENST00000331366.5	-	0	2055_2056				CPNE8_ENST00000538596.2_3'UTR|CPNE8_ENST00000546603.1_5'UTR	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII							extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CTGTTTCTGTTAAAAAAAAAAa	0.312																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.*265->TTTT	12.37:g.39047424_39047427dupAAAA			Q2TB41|Q86VY2	RNA	INS	-	NULL	ENST00000331366.5	37	NULL	CCDS8733.1	12																																																																																			CPNE8	-	-	ENSG00000139117		0.312	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1		0.00	35	0	-	NM_153634		39047420	-1	tier1		no_errors	ENST00000546603	ensembl	human	known	74_37	rna	21.67	47	13	INS	0.031:0.001	AAAA
CPNE8	144402	genome.wustl.edu	37	12	39079292	39079292	+	Splice_Site	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:39079292C>T	ENST00000331366.5	-	16	1367	c.1271G>A	c.(1270-1272)aGa>aAa	p.R424K	CPNE8_ENST00000360449.3_Splice_Site_p.R412K|CPNE8_ENST00000538596.2_Splice_Site_p.R93K	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	424	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CTCTACTTACCTTGCTACATG	0.418																																																	0													169.0	156.0	160.0					12																	39079292		2203	4300	6503	SO:0001630	splice_region_variant	0			AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.1271+1G>A	12.37:g.39079292C>T			Q2TB41|Q86VY2	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.R424K	ENST00000331366.5	37	c.1271	CCDS8733.1	12	.	.	.	.	.	.	.	.	.	.	C	17.84	3.487553	0.63962	.	.	ENSG00000139117	ENST00000331366;ENST00000538596;ENST00000360449	T;T;T	0.20881	2.04;2.04;2.04	4.71	4.71	0.59529	von Willebrand factor, type A (2);Copine (1);	0.046812	0.85682	D	0.000000	T	0.22781	0.0550	L	0.42245	1.32	0.80722	D	1	B	0.27166	0.17	B	0.33121	0.158	T	0.03852	-1.0998	9	.	.	.	-15.1931	17.3227	0.87240	0.0:1.0:0.0:0.0	.	424	Q86YQ8	CPNE8_HUMAN	K	424;93;412	ENSP00000329748:R424K;ENSP00000439237:R93K;ENSP00000353633:R412K	.	R	-	2	0	CPNE8	37365559	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.154000	0.77437	2.549000	0.85964	0.655000	0.94253	AGA	CPNE8	-	pfam_Copine,smart_VWF_A,pfscan_VWF_A	ENSG00000139117		0.418	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE8	HGNC	protein_coding	OTTHUMT00000403856.1	-	0.00	91	0	C	NM_153634	Missense_Mutation	39079292	-1	tier1	-	no_errors	ENST00000331366	ensembl	human	known	74_37	missense	44.16	43	34	SNP	1.000	T
CPNE9	151835	genome.wustl.edu	37	3	9768856	9768856	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:9768856C>T	ENST00000383832.3	+	20	1652	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W	CPNE9_ENST00000383831.3_Missense_Mutation_p.R488W	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	488	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CTACGCAGAGCGGGACATCGT	0.562																																																	0													177.0	176.0	176.0					3																	9768856		2119	4234	6353	SO:0001583	missense	0				CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1462C>T	3.37:g.9768856C>T	ENSP00000373343:p.Arg488Trp		A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.R488W	ENST00000383832.3	37	c.1462	CCDS2574.2	3	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018334	0.75275	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.20200	2.7;2.09	4.25	3.29	0.37713	von Willebrand factor, type A (2);	0.063406	0.64402	D	0.000007	T	0.51227	0.1662	M	0.91872	3.25	0.54753	D	0.999984	D	0.89917	1.0	D	0.79108	0.992	T	0.61874	-0.6973	10	0.87932	D	0	.	11.4145	0.49943	0.2488:0.7512:0.0:0.0	.	488	Q8IYJ1	CPNE9_HUMAN	W	488	ENSP00000373343:R488W;ENSP00000373342:R488W	ENSP00000373342:R488W	R	+	1	2	CPNE9	9743856	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.014000	0.49590	2.191000	0.70037	0.467000	0.42956	CGG	CPNE9	-	smart_VWF_A,pfscan_VWF_A	ENSG00000144550		0.562	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE9	HGNC	protein_coding	OTTHUMT00000250205.4	-	0.00	63	0	C	NM_001033755		9768856	+1	tier1	-	no_errors	ENST00000383832	ensembl	human	known	74_37	missense	34.62	33	18	SNP	1.000	T
CPSF1	29894	genome.wustl.edu	37	8	145621896	145621898	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:145621896_145621898delCTT	ENST00000349769.3	-	25	2835_2837	c.2741_2743delAAG	c.(2740-2745)gaaggt>ggt	p.E914del	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	914					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCGCCGCCACCTTCTGCTTTCTT	0.626																																					NSCLC(133;1088 1848 27708 34777 35269)												0																																										SO:0001651	inframe_deletion	0			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2741_2743delAAG	8.37:g.145621896_145621898delCTT	ENSP00000339353:p.Glu914del		Q96AF0	In_Frame_Del	DEL	pfam_Cleavage/polyA-sp_fac_asu_C	p.E914in_frame_del	ENST00000349769.3	37	c.2743_2741	CCDS34966.1	8																																																																																			CPSF1	-	NULL	ENSG00000071894		0.626	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2		0.00	39	0	CTT	NM_013291		145621898	-1	tier1		no_errors	ENST00000349769	ensembl	human	known	74_37	in_frame_del	26.09	34	12	DEL	1.000:0.999:1.000	-
CPSF6	11052	genome.wustl.edu	37	12	69650552	69650552	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:69650552T>A	ENST00000435070.2	+	4	560	c.450T>A	c.(448-450)caT>caA	p.H150Q	CPSF6_ENST00000266679.8_Missense_Mutation_p.H150Q|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Missense_Mutation_p.H150Q	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	150	Necessary for interaction with NUDT21/CPSF5.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GAGAACTTCATGGTCAGAATC	0.383																																																	0													127.0	129.0	128.0					12																	69650552		2203	4300	6503	SO:0001583	missense	0			X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.450T>A	12.37:g.69650552T>A	ENSP00000391774:p.His150Gln		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H150Q	ENST00000435070.2	37	c.450	CCDS8988.1	12	.	.	.	.	.	.	.	.	.	.	T	16.55	3.155721	0.57259	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	T;T;T	0.07567	3.18;3.18;3.18	5.85	4.68	0.58851	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.090958	0.85682	D	0.000000	T	0.10337	0.0253	L	0.53561	1.675	0.80722	D	1	B;B	0.27286	0.144;0.174	B;B	0.31016	0.047;0.123	T	0.10359	-1.0633	9	.	.	.	-15.1356	10.9897	0.47543	0.0:0.1309:0.0:0.8691	.	150;150	Q16630-2;Q16630	.;CPSF6_HUMAN	Q	150	ENSP00000391774:H150Q;ENSP00000391437:H150Q;ENSP00000266679:H150Q	.	H	+	3	2	CPSF6	67936819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.297000	0.43593	1.111000	0.41721	0.533000	0.62120	CAT	CPSF6	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000111605		0.383	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF6	HGNC	protein_coding	OTTHUMT00000403609.1	-	0.00	79	0	T	NM_007007		69650552	+1	tier1	-	no_errors	ENST00000266679	ensembl	human	known	74_37	missense	51.61	45	48	SNP	1.000	A
CPT1B	1375	genome.wustl.edu	37	22	51010669	51010669	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:51010669G>A	ENST00000360719.2	-	12	1558	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.A393V|CPT1B_ENST00000405237.3_Missense_Mutation_p.A474V|CPT1B_ENST00000312108.7_Missense_Mutation_p.A474V|CPT1B_ENST00000395650.2_Missense_Mutation_p.A474V|CPT1B_ENST00000457250.1_Missense_Mutation_p.A440V|CPT1B_ENST00000434492.2_Missense_Mutation_p.A271V	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	474					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		ATCTGCCCACGCATGCTCTGC	0.532																																					Esophageal Squamous(170;988 1933 25577 30295 48163)												0													80.0	73.0	75.0					22																	51010669		2203	4300	6503	SO:0001583	missense	0			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1421C>T	22.37:g.51010669G>A	ENSP00000353945:p.Ala474Val		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.A474V	ENST00000360719.2	37	c.1421	CCDS14098.1	22	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919279	0.73098	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;T;D;T;D	0.90385	-2.66;-2.66;-2.66;-1.49;-2.66;-1.49;-2.66	5.65	5.65	0.86999	.	0.234953	0.44688	D	0.000438	D	0.92476	0.7611	M	0.79258	2.445	0.44234	D	0.997077	D;P;P;P	0.53885	0.963;0.7;0.916;0.916	P;B;B;B	0.47673	0.554;0.39;0.39;0.39	D	0.93438	0.6791	10	0.87932	D	0	-11.775	17.2199	0.86954	0.0:0.0:1.0:0.0	.	393;440;271;474	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	V	474;474;474;440;393;271;474	ENSP00000385486:A474V;ENSP00000312189:A474V;ENSP00000353945:A474V;ENSP00000409342:A440V;ENSP00000414713:A393V;ENSP00000410966:A271V;ENSP00000379011:A474V	ENSP00000312189:A474V	A	-	2	0	CPT1B	49357535	1.000000	0.71417	0.920000	0.36463	0.404000	0.30871	7.493000	0.81493	2.667000	0.90743	0.561000	0.74099	GCG	CPT1B	-	pfam_Carn_acyl_trans	ENSG00000205560		0.532	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	-	0.00	27	0	G	NM_152246		51010669	-1	tier1	-	no_errors	ENST00000312108	ensembl	human	known	74_37	missense	44.83	16	13	SNP	0.994	A
CRCT1	54544	genome.wustl.edu	37	1	152488094	152488094	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152488094delG	ENST00000368790.3	+	2	308	c.235delG	c.(235-237)gggfs	p.G81fs		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	81	Cys-rich.									lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTGCTGCGGGGGCGGCAG	0.682																																																	0													5.0	6.0	6.0					1																	152488094		1776	3721	5497	SO:0001589	frameshift_variant	0			AJ243662	CCDS1012.1	1q21	2008-02-05	2006-12-18	2006-12-18	ENSG00000169509	ENSG00000169509			29875	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 42"""	C1orf42		11230159	Standard	NM_019060		Approved	NICE-1	uc001ezz.3	Q9UGL9	OTTHUMG00000012391	ENST00000368790.3:c.235delG	1.37:g.152488094delG	ENSP00000357779:p.Gly81fs		A4QN00|Q6IAD7	Frame_Shift_Del	DEL	NULL	p.G80fs	ENST00000368790.3	37	c.235	CCDS1012.1	1																																																																																			CRCT1	-	NULL	ENSG00000169509		0.682	CRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRCT1	HGNC	protein_coding	OTTHUMT00000034511.1		0.00	14	0	G	NM_019060		152488094	+1	tier1		no_errors	ENST00000368790	ensembl	human	known	74_37	frame_shift_del	42.86	12	9	DEL	0.677	-
CRB1	23418	genome.wustl.edu	37	1	197390734	197390734	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:197390734C>T	ENST00000367400.3	+	6	1911	c.1776C>T	c.(1774-1776)atC>atT	p.I592I	CRB1_ENST00000538660.1_Silent_p.I592I|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.I523I|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000544212.1_Silent_p.I73I|CRB1_ENST00000367399.2_Silent_p.I480I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	592	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I592M(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGAAATGCATCGCGAAAGCTC	0.468																																																	1	Substitution - Missense(1)	lung(1)											119.0	113.0	115.0					1																	197390734		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1776C>T	1.37:g.197390734C>T			A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.I592	ENST00000367400.3	37	c.1776	CCDS1390.1	1																																																																																			CRB1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000134376		0.468	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2		0.00	29	0	C	NM_201253		197390734	+1			no_errors	ENST00000367400	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.002	T
CR2	1380	genome.wustl.edu	37	1	207642015	207642018	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TGTT	TGTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:207642015_207642018delTGTT	ENST00000367058.3	+	3	778_781	c.589_592delTGTT	c.(589-594)tgtttgfs	p.CL197fs	CR2_ENST00000367059.3_Frame_Shift_Del_p.CL197fs|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367057.3_Frame_Shift_Del_p.CL197fs|CR2_ENST00000458541.2_Frame_Shift_Del_p.CL197fs	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	197	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GATCATTAACTGTTTGTCTTCGGG	0.422																																																	0																																										SO:0001589	frameshift_variant	0			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.589_592delTGTT	1.37:g.207642015_207642018delTGTT	ENSP00000356025:p.Cys197fs		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Frame_Shift_Del	DEL	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S199fs	ENST00000367058.3	37	c.589_592	CCDS1478.1	1																																																																																			CR2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000117322		0.422	CR2-001	KNOWN	basic|CCDS	protein_coding	CR2	HGNC	protein_coding	OTTHUMT00000088274.1		0.00	127	0	TGTT	NM_001877		207642018	+1	tier1		no_errors	ENST00000367057	ensembl	human	known	74_37	frame_shift_del	23.62	97	30	DEL	0.960:0.990:0.985:0.986	-
CR1	1378	genome.wustl.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423																																																	19	Substitution - Nonsense(19)	lung(6)|endometrium(6)|prostate(3)|kidney(2)|central_nervous_system(2)											103.0	94.0	97.0					1																	207787753		1868	4107	5975	SO:0001587	stop_gained	0			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6580C>T	1.37:g.207787753C>T	ENSP00000356016:p.Arg2194*		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R2194*	ENST00000367049.4	37	c.6580	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	C	44	11.182593	0.99528	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5152	0.27596	0.0:0.7891:0.0:0.2109	rs55749440	.	.	.	X	1744;1744;1744;1744;2194	.	ENSP00000356016:R2194X	R	+	1	2	CR1	205854376	0.129000	0.22400	0.370000	0.25965	0.352000	0.29268	0.213000	0.17521	0.518000	0.28383	0.436000	0.28706	CGA	CR1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000203710		0.423	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	-	0.00	176	0	C	NM_000573		207787753	+1	tier1	rs55749440	no_errors	ENST00000367049	ensembl	human	known	74_37	nonsense	15.13	230	41	SNP	0.477	T
CREBBP	1387	genome.wustl.edu	37	16	3828084	3828085	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:3828084_3828085insC	ENST00000262367.5	-	10	2849_2850	c.2040_2041insG	c.(2038-2043)gggaacfs	p.N681fs	CREBBP_ENST00000382070.3_Frame_Shift_Ins_p.N643fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	681					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTGGCTGGTTCCCCAAGATGC	0.46			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0																																										SO:0001589	frameshift_variant	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2041dupG	16.37:g.3828088_3828088dupC	ENSP00000262367:p.Asn681fs		D3DUC9|O00147|Q16376|Q4LE28	Frame_Shift_Ins	INS	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.N680fs	ENST00000262367.5	37	c.2041_2040	CCDS10509.1	16																																																																																			CREBBP	-	NULL	ENSG00000005339		0.460	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2		0.00	95	0	-	NM_004380		3828085	-1	tier1		no_errors	ENST00000262367	ensembl	human	known	74_37	frame_shift_ins	28.04	77	30	INS	1.000:1.000	C
CRMP1	1400	genome.wustl.edu	37	4	5843033	5843033	+	Splice_Site	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:5843033A>G	ENST00000397890.2	-	8	1026		c.e8+1		CRMP1_ENST00000511535.1_Splice_Site|CRMP1_ENST00000512574.1_Splice_Site|CRMP1_ENST00000324989.7_Splice_Site	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1						axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CCGGCTGCATACCTTTCTTCC	0.622																																																	0													130.0	135.0	134.0					4																	5843033		2203	4300	6503	SO:0001630	splice_region_variant	0			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.811+1T>C	4.37:g.5843033A>G			A0EJG6|Q13024|Q4W5F1|Q96TC8	Splice_Site	SNP	-	e8+2	ENST00000397890.2	37	c.1153+2	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	A	10.32	1.317310	0.23908	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	.	.	.	4.44	3.27	0.37495	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4185	0.32685	0.9047:0.0:0.0953:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CRMP1	5893934	1.000000	0.71417	0.960000	0.40013	0.093000	0.18481	4.697000	0.61782	0.770000	0.33336	0.260000	0.18958	.	CRMP1	-	-	ENSG00000072832		0.622	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1		0.00	10	0	A	NM_001313	Intron	5843033	-1			no_errors	ENST00000324989	ensembl	human	known	74_37	splice_site	30.00	7	3	SNP	1.000	G
CROCCP3	114819	genome.wustl.edu	37	1	16809912	16809912	+	RNA	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:16809912C>T	ENST00000263511.4	-	0	1873					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CGCTCACTCTCGCTGTCGCTA	0.687																																																	0																																												0			AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16809912C>T			Q96PW6	RNA	SNP	-	NULL	ENST00000263511.4	37	NULL		1																																																																																			CROCCP3	-	-	ENSG00000080947		0.687	CROCCP3-002	KNOWN	basic	processed_transcript	CROCCP3	HGNC	pseudogene	OTTHUMT00000458172.1	-	0.00	163	0	C	XM_057040		16809912	-1	tier1	-	no_errors	ENST00000263511	ensembl	human	known	74_37	rna	31.06	91	41	SNP	0.998	T
CROCC	9696	genome.wustl.edu	37	1	17297165	17297165	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:17297165C>T	ENST00000375541.5	+	35	5756	c.5687C>T	c.(5686-5688)aCa>aTa	p.T1896I		NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CATGAGGACACAGTGCGGCTG	0.657																																																	0													30.0	32.0	31.0					1																	17297165		2201	4299	6500	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.5687C>T	1.37:g.17297165C>T	ENSP00000364691:p.Thr1896Ile			Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.T1896I	ENST00000375541.5	37	c.5687	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717265	0.48622	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.09445	2.98	4.6	3.61	0.41365	.	.	.	.	.	T	0.11067	0.0270	L	0.39633	1.23	0.37679	D	0.923414	P;P;P	0.40050	0.642;0.7;0.502	B;B;B	0.41860	0.318;0.368;0.217	T	0.23119	-1.0197	9	0.24483	T	0.36	.	12.15	0.54044	0.0:0.8259:0.174:0.0	.	1777;1199;1896	B1AKD8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	I	1896;1777	ENSP00000364691:T1896I	ENSP00000364691:T1896I	T	+	2	0	CROCC	17169752	0.995000	0.38212	0.913000	0.36048	0.596000	0.36781	3.614000	0.54160	2.275000	0.75901	0.655000	0.94253	ACA	CROCC	-	NULL	ENSG00000058453		0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	-	0.00	54	0	C	NM_014675		17297165	+1	tier1	-	no_errors	ENST00000375541	ensembl	human	known	74_37	missense	46.81	25	22	SNP	0.947	T
CRY2	1408	genome.wustl.edu	37	11	45891125	45891125	+	Silent	SNP	G	G	T	rs372182284		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:45891125G>T	ENST00000443527.2	+	7	1036	c.1014G>T	c.(1012-1014)acG>acT	p.T338T	CRY2_ENST00000417225.2_Silent_p.T256T	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	317					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)	p.T317T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TCTTCTACACGGCAGCTACCA	0.587																																					Esophageal Squamous(106;91 1499 8126 12599 39610)												1	Substitution - coding silent(1)	prostate(1)											124.0	117.0	120.0					11																	45891125		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.1014G>T	11.37:g.45891125G>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.T338	ENST00000443527.2	37	c.1014	CCDS7915.2	11																																																																																			CRY2	-	pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C	ENSG00000121671		0.587	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CRY2	HGNC	protein_coding	OTTHUMT00000330235.2		0.00	73	0	G	NM_021117		45891125	+1			no_errors	ENST00000443527	ensembl	human	known	74_37	silent	5.00	38	2	SNP	0.986	T
CRYAA	1409	genome.wustl.edu	37	21	44589921	44589922	+	Intron	DEL	CC	CC	-	rs71699904		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:44589921_44589922delCC	ENST00000291554.2	+	1	281				CRYAA_ENST00000398133.1_Frame_Shift_Del_p.P32fs|CRYAA_ENST00000398132.1_5'Flank|CRYAA_ENST00000482775.1_Intron	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A						negative regulation of apoptotic process (GO:0043066)|negative regulation of intracellular transport (GO:0032387)|protein homooligomerization (GO:0051260)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GCAATGGACGCCCCCCCCCCCA	0.609																																																	0																																										SO:0001627	intron_variant	0				CCDS13695.1	21q22.3	2011-09-05			ENSG00000160202	ENSG00000160202		"""Heat shock proteins / HSPB"""	2388	protein-coding gene	gene with protein product		123580		CRYA1			Standard	XM_005261093		Approved	HSPB4	uc002zdd.1	P02489	OTTHUMG00000086842	ENST00000291554.2:c.189+523CC>-	21.37:g.44589929_44589930delCC			Q53X53	Frame_Shift_Del	DEL	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.H33fs	ENST00000291554.2	37	c.87_88	CCDS13695.1	21																																																																																			CRYAA	-	superfamily_HSP20-like_chaperone	ENSG00000160202		0.609	CRYAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYAA	HGNC	protein_coding	OTTHUMT00000195562.1		0.00	32	0	CC			44589922	+1	tier1		no_errors	ENST00000398133	ensembl	human	putative	74_37	frame_shift_del	43.10	33	25	DEL	0.026:0.029	-
CRYAB	1410	genome.wustl.edu	37	11	111779648	111779648	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:111779648C>T	ENST00000533475.1	-	4	817	c.368G>A	c.(367-369)cGg>cAg	p.R123Q	CRYAB_ENST00000227251.3_Missense_Mutation_p.R123Q|CRYAB_ENST00000531198.1_Missense_Mutation_p.R123Q|CRYAB_ENST00000526180.1_Missense_Mutation_p.R123Q|CRYAB_ENST00000525823.1_Missense_Mutation_p.R56Q|CRYAB_ENST00000527950.1_Missense_Mutation_p.R123Q|CRYAB_ENST00000533280.1_Missense_Mutation_p.R56Q	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	123					aging (GO:0007568)|apoptotic process involved in morphogenesis (GO:0060561)|cellular response to gamma radiation (GO:0071480)|glucose metabolic process (GO:0006006)|lens development in camera-type eye (GO:0002088)|microtubule polymerization or depolymerization (GO:0031109)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of gene expression (GO:0010629)|negative regulation of intracellular transport (GO:0032387)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)|regulation of cell death (GO:0010941)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|stress-activated MAPK cascade (GO:0051403)|tubulin complex assembly (GO:0007021)	actin filament bundle (GO:0032432)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)|unfolded protein binding (GO:0051082)	p.R123Q(2)		endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		AGCTGGGATCCGGTATTTCCT	0.483																																																	2	Substitution - Missense(2)	skin(2)											110.0	96.0	101.0					11																	111779648		2201	4297	6498	SO:0001583	missense	0				CCDS8351.1	11q22.3-q23.1	2014-09-17				ENSG00000109846		"""Heat shock proteins / HSPB"""	2389	protein-coding gene	gene with protein product		123590		CRYA2		8431633	Standard	NM_001885		Approved	HSPB5	uc001pmf.1	P02511		ENST00000533475.1:c.368G>A	11.37:g.111779648C>T	ENSP00000433560:p.Arg123Gln		B0YIX0|O43416|Q9UC37|Q9UC38|Q9UC39|Q9UC40|Q9UC41	Missense_Mutation	SNP	pfam_Alpha-crystallin_N,pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	p.R123Q	ENST00000533475.1	37	c.368	CCDS8351.1	11	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674087	0.88445	.	.	ENSG00000109846	ENST00000526180;ENST00000533280;ENST00000525823;ENST00000533475;ENST00000527950;ENST00000227251;ENST00000531198;ENST00000528961;ENST00000527899;ENST00000526167;ENST00000529647	D;D;D;D;D;D;D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01;-3.01	5.73	5.73	0.89815	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.127842	0.64402	D	0.000009	D	0.91646	0.7360	L	0.44542	1.39	0.80722	D	1	D	0.60160	0.987	P	0.58520	0.84	D	0.88034	0.2777	10	0.18710	T	0.47	-0.9614	10.3296	0.43814	0.0:0.8551:0.0:0.1449	.	123	P02511	CRYAB_HUMAN	Q	123;56;56;123;123;123;123;56;123;56;123	ENSP00000436051:R123Q;ENSP00000435046:R56Q;ENSP00000435411:R56Q;ENSP00000433560:R123Q;ENSP00000437149:R123Q;ENSP00000227251:R123Q;ENSP00000434247:R123Q;ENSP00000435960:R56Q;ENSP00000436089:R123Q;ENSP00000434793:R56Q;ENSP00000431754:R123Q	ENSP00000227251:R123Q	R	-	2	0	CRYAB	111284858	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.591000	0.53986	2.721000	0.93114	0.655000	0.94253	CGG	CRYAB	-	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP	ENSG00000109846		0.483	CRYAB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CRYAB	HGNC	protein_coding	OTTHUMT00000391658.1	-	0.00	56	0	C			111779648	-1	tier1	-	no_errors	ENST00000227251	ensembl	human	known	74_37	missense	44.19	24	19	SNP	1.000	T
CRYBA4	1413	genome.wustl.edu	37	22	27024395	27024395	+	Splice_Site	SNP	G	G	A	rs182284999		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:27024395G>A	ENST00000354760.3	+	5	478		c.e5+1		CRYBA4_ENST00000466315.1_Splice_Site	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4						camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						ACTCTGGGGCGTAAGTGTATT	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		20068	0.0		0.001	False		,,,				2504	0.0																0													106.0	88.0	94.0					22																	27024395		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.443+1G>A	22.37:g.27024395G>A			Q4VB22|Q6ICE4	Splice_Site	SNP	-	e4+1	ENST00000354760.3	37	c.443+1	CCDS13841.1	22	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	21.5	4.155354	0.78114	.	.	ENSG00000196431	ENST00000354760	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3103	0.66413	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRYBA4	25354395	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.499000	0.73683	2.242000	0.73789	0.655000	0.94253	.	CRYBA4	-	-	ENSG00000196431		0.562	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBA4	HGNC	protein_coding	OTTHUMT00000320793.1		0.00	21	0	G	NM_001886	Intron	27024395	+1			no_errors	ENST00000354760	ensembl	human	known	74_37	splice_site	25.00	18	6	SNP	1.000	A
CRYBG3	131544	genome.wustl.edu	37	3	97596787	97596787	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:97596787delA	ENST00000182096.4	+	1	969	c.905delA	c.(904-906)gaafs	p.E302fs		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2250							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CATTCCTCAGAAAAAGGAGCC	0.403																																																	0													74.0	68.0	70.0					3																	97596787		1799	4082	5881	SO:0001589	frameshift_variant	0					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.905delA	3.37:g.97596787delA	ENSP00000182096:p.Glu302fs		B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Frame_Shift_Del	DEL	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.G304fs	ENST00000182096.4	37	c.905		3																																																																																			CRYBG3	-	NULL	ENSG00000080200		0.403	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1		0.00	44	0	A	NM_153605		97596787	+1	tier1		no_errors	ENST00000182096	ensembl	human	known	74_37	frame_shift_del	30.77	36	16	DEL	1.000	-
CSDE1	7812	genome.wustl.edu	37	1	115292534	115292534	+	5'UTR	DEL	A	A	-	rs35301858		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:115292534delA	ENST00000358528.4	-	0	334				CSDE1_ENST00000261443.5_Intron|CSDE1_ENST00000530886.1_5'UTR|CSDE1_ENST00000339438.6_5'UTR|CSDE1_ENST00000369530.1_5'UTR|CSDE1_ENST00000534699.1_Intron|CSDE1_ENST00000438362.2_5'UTR	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding						male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCTAGTATTAAAAAAAAGAG	0.373																																																	0																																										SO:0001623	5_prime_UTR_variant	0				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.-93T>-	1.37:g.115292534delA			A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	RNA	DEL	-	NULL	ENST00000358528.4	37	NULL	CCDS30812.1	1																																																																																			CSDE1	-	-	ENSG00000009307		0.373	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CSDE1	HGNC	protein_coding	OTTHUMT00000033397.1		0.00	53	0	A	NM_007158		115292534	-1	tier1		no_errors	ENST00000524652	ensembl	human	known	74_37	rna	45.00	22	18	DEL	1.000	-
CSF2RA	1438	genome.wustl.edu	37	X	1428554	1428554	+	3'UTR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:1428554C>T	ENST00000381524.3	+	0	1571				CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355432.3_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000498153.1_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)						response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ccaaggcaggcggatcacctg	0.507																																					Esophageal Squamous(131;723 1707 25334 40494 41806)												0																																										SO:0001624	3_prime_UTR_variant	0			M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.*182C>T	X.37:g.1428554C>T			A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	RNA	SNP	-	NULL	ENST00000381524.3	37	NULL	CCDS35191.1	X																																																																																			CSF2RA	-	-	ENSG00000198223		0.507	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSF2RA	HGNC	protein_coding	OTTHUMT00000035013.2	-	0.00	33	0	C			1428554	+1	tier1	-	no_errors	ENST00000498153	ensembl	human	known	74_37	rna	56.41	17	22	SNP	0.053	T
CSF2RB	1439	genome.wustl.edu	37	22	37328884	37328884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:37328884C>T	ENST00000403662.3	+	9	1312	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	CSF2RB_ENST00000262825.5_Nonsense_Mutation_p.R370*|CSF2RB_ENST00000536485.1_Nonsense_Mutation_p.R311*|CSF2RB_ENST00000406230.1_Nonsense_Mutation_p.R370*			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	364	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AATGAAAATGCGATACGAACA	0.557																																																	0													133.0	97.0	109.0					22																	37328884		2203	4300	6503	SO:0001587	stop_gained	0			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.1090C>T	22.37:g.37328884C>T	ENSP00000384053:p.Arg364*		Q5JZI1|Q6ICE0	Nonsense_Mutation	SNP	pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R370*	ENST00000403662.3	37	c.1108	CCDS13936.1	22	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096061	0.56075	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	.	.	.	4.71	-9.42	0.00610	.	4.772160	0.00424	N	0.000067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	3.3602	1.4823	0.02439	0.3773:0.2296:0.2725:0.1206	.	.	.	.	X	364;364;370;370;311	.	ENSP00000262825:R370X	R	+	1	2	CSF2RB	35658830	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-2.477000	0.00985	-3.262000	0.00201	0.511000	0.50034	CGA	CSF2RB	-	pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000100368		0.557	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1	-	0.00	44	0	C	NM_000395		37328884	+1	tier1	-	no_errors	ENST00000262825	ensembl	human	known	74_37	nonsense	50.00	19	19	SNP	0.000	T
CSF3R	1441	genome.wustl.edu	37	1	36938156	36938156	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:36938156G>A	ENST00000373106.1	-	7	1352	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	CSF3R_ENST00000331941.5_Missense_Mutation_p.R269C|CSF3R_ENST00000487540.2_5'Flank|CSF3R_ENST00000440588.2_Missense_Mutation_p.R269C|CSF3R_ENST00000418048.2_Missense_Mutation_p.R269C|CSF3R_ENST00000361632.4_Missense_Mutation_p.R269C|CSF3R_ENST00000373104.1_Missense_Mutation_p.R269C|CSF3R_ENST00000373103.1_Missense_Mutation_p.R269C|CSF3R_ENST00000338937.5_Missense_Mutation_p.R269C	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	269	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.R269C(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GGCTTGTGGCGCAGCTCACAC	0.672																																																	2	Substitution - Missense(2)	large_intestine(2)											35.0	36.0	35.0					1																	36938156		2195	4287	6482	SO:0001583	missense	0			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.805C>T	1.37:g.36938156G>A	ENSP00000362198:p.Arg269Cys			Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.R269C	ENST00000373106.1	37	c.805	CCDS413.1	1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047820	0.55110	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	4.88	4.88	0.63580	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.555420	0.19006	N	0.125202	T	0.74581	0.3735	M	0.81802	2.56	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.997;1.0	T	0.78132	-0.2323	10	0.87932	D	0	-26.8968	16.7622	0.85515	0.0:0.0:1.0:0.0	.	269;269;269;269	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	C	269	ENSP00000362198:R269C;ENSP00000362196:R269C;ENSP00000362195:R269C;ENSP00000355406:R269C;ENSP00000332180:R269C;ENSP00000401588:R269C;ENSP00000345013:R269C;ENSP00000397568:R269C	ENSP00000332180:R269C	R	-	1	0	CSF3R	36710743	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	5.876000	0.69667	2.531000	0.85337	0.655000	0.94253	CGC	CSF3R	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000119535		0.672	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	HGNC	protein_coding	OTTHUMT00000021997.2	-	0.00	78	0	G	NM_156039		36938156	-1	tier1	-	no_errors	ENST00000373103	ensembl	human	known	74_37	missense	39.66	35	23	SNP	1.000	A
CSH2	1443	genome.wustl.edu	37	17	61949908	61949908	+	Intron	SNP	G	G	T	rs375413737		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:61949908G>T	ENST00000392886.2	-	4	608				CSH2_ENST00000345366.7_Intron|CSH2_ENST00000560142.1_Intron|CSH2_ENST00000336844.5_Missense_Mutation_p.P162H	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2							extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						TGGGGTTCCAGGATTGGCGAC	0.557																																																	0													86.0	80.0	82.0					17																	61949908		2203	4300	6503	SO:0001627	intron_variant	0			V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.456+28C>A	17.37:g.61949908G>T			P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin	p.P162H	ENST00000392886.2	37	c.485	CCDS42369.1	17	.	.	.	.	.	.	.	.	.	.	g	13.72	2.321878	0.41096	.	.	ENSG00000213218	ENST00000336844	D	0.87966	-2.32	3.16	-0.681	0.11342	.	.	.	.	.	D	0.83298	0.5224	L	0.51422	1.61	0.09310	N	0.999996	P	0.35124	0.485	B	0.43990	0.438	T	0.72010	-0.4419	8	.	.	.	.	3.2124	0.06687	0.3282:0.2221:0.4497:0.0	.	162	A6NIT4	.	H	162	ENSP00000338816:P162H	.	P	-	2	0	CSH2	59303640	0.061000	0.20836	0.001000	0.08648	0.009000	0.06853	1.107000	0.31110	-0.003000	0.14444	0.407000	0.27541	CCT	CSH2	-	superfamily_4_helix_cytokine-like_core	ENSG00000213218		0.557	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSH2	HGNC	protein_coding	OTTHUMT00000417657.1	-	0.00	96	0	G	NM_020991		61949908	-1	tier1	-	no_errors	ENST00000336844	ensembl	human	known	74_37	missense	5.43	87	5	SNP	0.001	T
CSMD2	114784	genome.wustl.edu	37	1	34011768	34011768	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:34011768C>T	ENST00000373381.4	-	57	9145	c.8969G>A	c.(8968-8970)cGt>cAt	p.R2990H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2963	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2846H(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCCCCCAAACGGATGCCATG	0.567																																																	1	Substitution - Missense(1)	prostate(1)											59.0	53.0	55.0					1																	34011768		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.8969G>A	1.37:g.34011768C>T	ENSP00000362479:p.Arg2990His		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R2990H	ENST00000373381.4	37	c.8969		1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056281	0.76074	.	.	ENSG00000121904	ENST00000373381	T	0.64803	-0.12	4.97	4.97	0.65823	Complement control module (2);Sushi/SCR/CCP (3);	0.061352	0.64402	D	0.000003	T	0.67664	0.2917	M	0.69523	2.12	0.80722	D	1	P;B	0.46457	0.878;0.139	P;B	0.46339	0.513;0.072	T	0.68685	-0.5343	10	0.36615	T	0.2	.	17.4042	0.87469	0.0:1.0:0.0:0.0	.	2846;2990	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	2990	ENSP00000362479:R2990H	ENSP00000241312:R2846H	R	-	2	0	CSMD2	33784355	1.000000	0.71417	0.951000	0.38953	0.596000	0.36781	7.629000	0.83207	2.591000	0.87537	0.650000	0.86243	CGT	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.567	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		-	0.00	33	0	C	NM_052896		34011768	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	T
CSMD2	114784	genome.wustl.edu	37	1	34190222	34190222	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:34190222C>T	ENST00000373381.4	-	18	2955	c.2779G>A	c.(2779-2781)Gcg>Acg	p.A927T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	887	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A887S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCACCAGCGCGCCCACGTAG	0.567																																																	1	Substitution - Missense(1)	lung(1)											82.0	77.0	79.0					1																	34190222		2203	4300	6503	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2779G>A	1.37:g.34190222C>T	ENSP00000362479:p.Ala927Thr		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.A927T	ENST00000373381.4	37	c.2779		1	.	.	.	.	.	.	.	.	.	.	C	36	5.709539	0.96821	.	.	ENSG00000121904	ENST00000373381	T	0.65364	-0.15	5.74	5.74	0.90152	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.62085	0.2399	N	0.11131	0.1	0.80722	D	1	D;D	0.61697	0.99;0.981	P;P	0.61132	0.884;0.657	T	0.65549	-0.6141	10	0.40728	T	0.16	.	18.9071	0.92467	0.0:1.0:0.0:0.0	.	887;927	Q7Z408;E7EUA6	CSMD2_HUMAN;.	T	927	ENSP00000362479:A927T	ENSP00000241312:A887T	A	-	1	0	CSMD2	33962809	1.000000	0.71417	0.805000	0.32314	0.844000	0.47949	6.082000	0.71318	2.707000	0.92482	0.655000	0.94253	GCG	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.567	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		-	0.00	54	0	C	NM_052896		34190222	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	missense	36.36	14	8	SNP	1.000	T
CSMD3	114788	genome.wustl.edu	37	8	113241029	113241029	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:113241029delA	ENST00000297405.5	-	70	11164	c.10920delT	c.(10918-10920)tttfs	p.F3640fs	CSMD3_ENST00000455883.2_Frame_Shift_Del_p.F3471fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.F3600fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.F3570fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3640						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATAAGTGCAAAAAAAGGCA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													78.0	81.0	80.0					8																	113241029		2203	4297	6500	SO:0001589	frameshift_variant	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10920delT	8.37:g.113241029delA	ENSP00000297405:p.Phe3640fs		Q96PZ3	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.F3640fs	ENST00000297405.5	37	c.10920	CCDS6315.1	8																																																																																			CSMD3	-	NULL	ENSG00000164796		0.303	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1		0.00	36	0	A	NM_052900		113241029	-1	tier1		no_errors	ENST00000297405	ensembl	human	known	74_37	frame_shift_del	18.75	39	9	DEL	1.000	-
CSMD3	114788	genome.wustl.edu	37	8	113349856	113349856	+	Nonsense_Mutation	SNP	C	C	A	rs267601729		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:113349856C>A	ENST00000297405.5	-	43	7001	c.6757G>T	c.(6757-6759)Gga>Tga	p.G2253*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.G2149*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.G2213*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.G2183*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2253	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATGTGTATCCTGGGAAACAT	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													106.0	107.0	107.0					8																	113349856		2203	4300	6503	SO:0001587	stop_gained	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6757G>T	8.37:g.113349856C>A	ENSP00000297405:p.Gly2253*		Q96PZ3	Nonsense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.G2253*	ENST00000297405.5	37	c.6757	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	50	16.727588	0.99870	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.4929	0.95059	0.0:1.0:0.0:0.0	.	.	.	.	X	2213;2253;1523;2149;2183	.	ENSP00000297405:G2253X	G	-	1	0	CSMD3	113419032	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.835000	0.97688	0.650000	0.86243	GGA	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	39	0	C	NM_052900		113349856	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	nonsense	25.00	45	15	SNP	1.000	A
CSNK1A1	1452	genome.wustl.edu	37	5	148875308	148875311	+	3'UTR	DEL	AAAA	AAAA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:148875308_148875311delAAAA	ENST00000377843.2	-	0	2598_2601				CTB-89H12.4_ENST00000412431.2_RNA|CSNK1A1_ENST00000261798.5_3'UTR	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1						cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TGCAAGTCATaaaaaaaaaaaaaa	0.324																																					Colon(5;64 69 1309 10383)												0																																										SO:0001624	3_prime_UTR_variant	0			AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.*1108TTTT>-	5.37:g.148875316_148875319delAAAA			D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	RNA	DEL	-	NULL	ENST00000377843.2	37	NULL	CCDS47303.1	5																																																																																			CTB-89H12.4	-	-	ENSG00000230551		0.324	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	CSNK1A1	Clone_based_vega_gene	protein_coding			0.00	26	0	AAAA	NM_001892		148875311	-1	tier1		no_errors	ENST00000412431	ensembl	human	known	74_37	rna	20.69	23	6	DEL	0.000:0.004:0.004:0.004	-
CSNK1G2	1455	genome.wustl.edu	37	19	1954179	1954179	+	Intron	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:1954179G>T	ENST00000255641.8	+	1	230				CSNK1G2-AS1_ENST00000314315.3_RNA|CSNK1G2-AS1_ENST00000586395.1_RNA	NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2						protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTGGCCGCGGCAGCTCCTG	0.637																																					Ovarian(91;880 1392 21236 36928 37598)												0																																										SO:0001627	intron_variant	0			AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.-266+12762G>T	19.37:g.1954179G>T			B5BU42|O00704|Q8WUB1	RNA	SNP	-	NULL	ENST00000255641.8	37	NULL	CCDS12077.1	19																																																																																			CSNK1G2-AS1	-	-	ENSG00000180846		0.637	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSNK1G2-AS1	HGNC	protein_coding	OTTHUMT00000449287.1	-	0.00	51	0	G	NM_001319		1954179	-1	tier1	-	no_errors	ENST00000314315	ensembl	human	known	74_37	rna	12.77	41	6	SNP	0.000	T
CSRNP3	80034	genome.wustl.edu	37	2	166535346	166535346	+	Nonsense_Mutation	SNP	C	C	T	rs186955356		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:166535346C>T	ENST00000342316.4	+	5	1113	c.841C>T	c.(841-843)Cga>Tga	p.R281*	CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.R313*|CSRNP3_ENST00000314499.7_Nonsense_Mutation_p.R281*	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	281					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GGAGAAAAACCGAGAGCAGCA	0.448																																																	0													76.0	75.0	75.0					2																	166535346		2203	4300	6503	SO:0001587	stop_gained	0			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.841C>T	2.37:g.166535346C>T	ENSP00000344042:p.Arg281*		B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Nonsense_Mutation	SNP	prints_Cys/Ser-rich_nuc_prot	p.R281*	ENST00000342316.4	37	c.841	CCDS2225.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.193743	0.94960	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	.	.	.	5.71	4.83	0.62350	.	0.192440	0.45126	D	0.000382	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5576	12.6274	0.56638	0.4174:0.5826:0.0:0.0	.	.	.	.	X	281;288;281;281;313	.	ENSP00000318258:R281X	R	+	1	2	CSRNP3	166243592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.649000	0.61433	1.394000	0.46624	0.650000	0.86243	CGA	CSRNP3	-	NULL	ENSG00000178662		0.448	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP3	HGNC	protein_coding	OTTHUMT00000255191.2	-	0.00	53	0	C	NM_024969		166535346	+1	tier1	-	no_errors	ENST00000314499	ensembl	human	known	74_37	nonsense	53.33	28	32	SNP	1.000	T
CTBP2	1488	genome.wustl.edu	37	10	126692022	126692022	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:126692022C>T	ENST00000337195.5	-	4	497	c.98G>A	c.(97-99)cGc>cAc	p.R33H	CTBP2_ENST00000309035.6_Missense_Mutation_p.R573H|CTBP2_ENST00000531469.1_Missense_Mutation_p.R33H|CTBP2_ENST00000334808.6_Missense_Mutation_p.R101H|CTBP2_ENST00000411419.2_Missense_Mutation_p.R33H|CTBP2_ENST00000494626.2_Missense_Mutation_p.R33H	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	33					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CACCAGGGGGCGGGGGTGCAG	0.692																																																	0													15.0	20.0	18.0					10																	126692022		2136	4170	6306	SO:0001583	missense	0			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.98G>A	10.37:g.126692022C>T	ENSP00000338615:p.Arg33His		A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.R573H	ENST00000337195.5	37	c.1718	CCDS7643.1	10	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374339	0.42105	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	4.72	4.72	0.59763	NAD(P)-binding domain (1);	0.216064	0.48767	D	0.000180	T	0.43277	0.1240	L	0.35854	1.095	0.58432	D	0.999997	B;P;B	0.51653	0.06;0.947;0.349	B;B;B	0.42361	0.004;0.385;0.031	T	0.52170	-0.8611	10	0.87932	D	0	.	18.0503	0.89345	0.0:1.0:0.0:0.0	.	33;573;101	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	H	33;573;101;33;33;33	ENSP00000338615:R33H;ENSP00000311825:R573H;ENSP00000357816:R101H;ENSP00000434630:R33H;ENSP00000436285:R33H;ENSP00000410474:R33H	ENSP00000311825:R573H	R	-	2	0	CTBP2	126682012	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	6.089000	0.71384	2.350000	0.79820	0.561000	0.74099	CGC	CTBP2	-	NULL	ENSG00000175029		0.692	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	-	0.00	198	0	C	NM_001083914		126692022	-1	tier1	-	no_errors	ENST00000309035	ensembl	human	known	74_37	missense	40.88	93	65	SNP	1.000	T
CTBS	1486	genome.wustl.edu	37	1	85020568	85020568	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:85020568delT	ENST00000370630.5	-	0	1320				CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-						chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TTATTTATTCTTTTTTTTTAG	0.284																																																	0																																										SO:0001624	3_prime_UTR_variant	0			M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.*114A>-	1.37:g.85020568delT			Q5VX50	RNA	DEL	-	NULL	ENST00000370630.5	37	NULL	CCDS698.1	1																																																																																			CTBS	-	-	ENSG00000117151		0.284	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBS	HGNC	protein_coding	OTTHUMT00000027457.2		0.00	17	0	T	NM_004388		85020568	-1	tier1		no_errors	ENST00000477677	ensembl	human	known	74_37	rna	25.00	18	6	DEL	0.001	-
CTC1	80169	genome.wustl.edu	37	17	8132624	8132624	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:8132624C>T	ENST00000315684.8	-	19	3159	c.3152G>A	c.(3151-3153)cGg>cAg	p.R1051Q		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1051					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CCTTACCTGCCGGCAGATGCT	0.547																																																	0													144.0	150.0	148.0					17																	8132624		2069	4207	6276	SO:0001583	missense	0			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.3152G>A	17.37:g.8132624C>T	ENSP00000313759:p.Arg1051Gln		B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	NULL	p.R1051Q	ENST00000315684.8	37	c.3152	CCDS42259.1	17	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453622	0.26161	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.82893	-1.66;-1.66	4.92	-4.99	0.03010	.	1.383230	0.04218	N	0.332976	T	0.62962	0.2471	N	0.14661	0.345	0.09310	N	1	B	0.26809	0.16	B	0.21917	0.037	T	0.49725	-0.8909	10	0.24483	T	0.36	-0.0087	2.5158	0.04667	0.4913:0.1245:0.2598:0.1244	.	1051	Q2NKJ3	CTC1_HUMAN	Q	1051;1016	ENSP00000313759:R1051Q;ENSP00000396018:R1016Q	ENSP00000313759:R1051Q	R	-	2	0	CTC1	8073349	0.000000	0.05858	0.039000	0.18376	0.847000	0.48162	-1.577000	0.02127	-1.003000	0.03425	-0.133000	0.14855	CGG	CTC1	-	NULL	ENSG00000178971		0.547	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	-	0.00	63	0	C	NM_025099		8132624	-1	tier1	-	no_errors	ENST00000315684	ensembl	human	known	74_37	missense	52.46	29	32	SNP	0.236	T
CTDP1	9150	genome.wustl.edu	37	18	77496373	77496373	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:77496373G>T	ENST00000299543.7	+	12	2746	c.2599G>T	c.(2599-2601)Gaa>Taa	p.E867*	CTDP1_ENST00000075430.7_Missense_Mutation_p.E812D	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	867					exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CATCCTTGGAGAAGGCAGCGA	0.667																																																	0													27.0	30.0	29.0					18																	77496373		1847	3514	5361	SO:0001587	stop_gained	0			AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.2599G>T	18.37:g.77496373G>T	ENSP00000299543:p.Glu867*		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Nonsense_Mutation	SNP	pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk	p.E867*	ENST00000299543.7	37	c.2599	CCDS12017.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.391285|8.391285	0.98791|0.98791	.|.	.|.	ENSG00000060069|ENSG00000060069	ENST00000075430|ENST00000299543	T|.	0.42900|.	0.96|.	4.23|4.23	4.23|4.23	0.50019|0.50019	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.73999|.	0.3659|.	.|.	.|.	.|.	0.40858|0.40858	D|D	0.983811|0.983811	P|.	0.44816|.	0.844|.	B|.	0.43445|.	0.42|.	T|.	0.78575|.	-0.2151|.	9|.	0.51188|0.59425	T|D	0.08|0.04	-23.4458|-23.4458	15.3841|15.3841	0.74684|0.74684	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	812|.	Q9Y5B0-4|.	.|.	D|X	812|867	ENSP00000075430:E812D|.	ENSP00000075430:E812D|ENSP00000299543:E867X	E|E	+|+	3|1	2|0	CTDP1|CTDP1	75597361|75597361	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.560000|0.560000	0.35617|0.35617	4.189000|4.189000	0.58358|0.58358	1.908000|1.908000	0.55244|0.55244	0.557000|0.557000	0.71058|0.71058	GAG|GAA	CTDP1	-	pfam_FCP1_C	ENSG00000060069		0.667	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDP1	HGNC	protein_coding	OTTHUMT00000256432.1	-	0.00	35	0	G	NM_004715		77496373	+1	tier1	-	no_errors	ENST00000299543	ensembl	human	known	74_37	nonsense	11.32	47	6	SNP	1.000	T
CTNNA2	1496	genome.wustl.edu	37	2	80085237	80085237	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:80085237G>A	ENST00000402739.4	+	3	402	c.397G>A	c.(397-399)Gcg>Acg	p.A133T	CTNNA2_ENST00000466387.1_Missense_Mutation_p.A133T|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A133T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A133T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A167T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A133T	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	133					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.A133S(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTTGCTCTCCGCGGTGACACG	0.517																																																	2	Substitution - Missense(2)	lung(2)											81.0	79.0	80.0					2																	80085237		2055	4187	6242	SO:0001583	missense	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.397G>A	2.37:g.80085237G>A	ENSP00000384638:p.Ala133Thr		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.A167T	ENST00000402739.4	37	c.499		2	.	.	.	.	.	.	.	.	.	.	G	32	5.176021	0.94846	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.69006	0.3063	M	0.86953	2.85	0.80722	D	1	D;D;D	0.71674	0.986;0.998;0.998	P;P;P	0.62491	0.712;0.903;0.903	T	0.73874	-0.3845	10	0.66056	D	0.02	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	133;133;133	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	T	133;133;167;133;133;133	ENSP00000418191:A133T;ENSP00000419295:A133T;ENSP00000355398:A167T;ENSP00000384638:A133T;ENSP00000444675:A133T;ENSP00000441705:A133T	ENSP00000355398:A167T	A	+	1	0	CTNNA2	79938745	1.000000	0.71417	0.168000	0.22838	0.585000	0.36419	9.869000	0.99810	2.677000	0.91161	0.655000	0.94253	GCG	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	ENSG00000066032		0.517	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	-	0.00	51	0	G	NM_004389		80085237	+1	tier1	-	no_errors	ENST00000361291	ensembl	human	known	74_37	missense	34.88	26	15	SNP	1.000	A
CTNS	1497	genome.wustl.edu	37	17	3559997	3559997	+	Missense_Mutation	SNP	G	G	A	rs113994207		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:3559997G>A	ENST00000046640.3	+	9	1182	c.589G>A	c.(589-591)Gga>Aga	p.G197R	CTNS_ENST00000414524.2_Missense_Mutation_p.G50R|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000441220.2_Missense_Mutation_p.G89R|CTNS_ENST00000381870.3_Missense_Mutation_p.G197R	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	197			G -> R (in CTNSANN).		adult walking behavior (GO:0007628)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|cellular amino acid metabolic process (GO:0006520)|cognition (GO:0050890)|glutathione metabolic process (GO:0006749)|grooming behavior (GO:0007625)|L-cystine transport (GO:0015811)|lens development in camera-type eye (GO:0002088)|long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	L-cystine transmembrane transporter activity (GO:0015184)			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	ATACCCCAACGGAGTGAACCC	0.592																																																	0			GRCh37	CM992865	CTNS	M	rs113994207						172.0	142.0	152.0					17																	3559997		2203	4300	6503	SO:0001583	missense	0			AJ222967	CCDS11031.1, CCDS32530.1	17p13	2011-06-07	2011-06-07		ENSG00000040531	ENSG00000040531			2518	protein-coding gene	gene with protein product		606272	"""cystinosis, nephropathic"""			9537412, 15128704	Standard	NM_004937		Approved	CTNS-LSB, PQLC4	uc002fwa.3	O60931	OTTHUMG00000090693	ENST00000046640.3:c.589G>A	17.37:g.3559997G>A	ENSP00000046640:p.Gly197Arg		D3DTJ5|Q8IZ01|Q9UNK6	Missense_Mutation	SNP	smart_CTNS,tigrfam_LC_transporter	p.G197R	ENST00000046640.3	37	c.589	CCDS11031.1	17	.	.	.	.	.	.	.	.	.	.	g	28.5	4.929413	0.92389	.	.	ENSG00000040531	ENST00000046640;ENST00000381870;ENST00000441220;ENST00000414524	D;D;D;D	0.97114	-3.87;-3.89;-4.25;-4.08	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.98535	0.9511	M	0.86740	2.835	0.80722	A	1	D;P;D	0.89917	1.0;0.953;1.0	D;B;D	0.80764	0.989;0.259;0.994	D	0.99078	1.0836	9	0.52906	T	0.07	-11.8618	17.4852	0.87685	0.0:0.0:1.0:0.0	.	89;197;197	F8W6Z1;O60931;O60931-2	.;CTNS_HUMAN;.	R	197;197;89;50	ENSP00000046640:G197R;ENSP00000371294:G197R;ENSP00000411465:G89R;ENSP00000395471:G50R	ENSP00000046640:G197R	G	+	1	0	CTNS	3506746	1.000000	0.71417	0.883000	0.34634	0.805000	0.45488	9.076000	0.94009	2.467000	0.83353	0.486000	0.48141	GGA	CTNS	-	tigrfam_LC_transporter	ENSG00000040531		0.592	CTNS-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CTNS	HGNC	protein_coding	OTTHUMT00000317696.1	-	0.00	44	0	G	NM_004937		3559997	+1	tier1	rs113994207	no_errors	ENST00000381870	ensembl	human	known	74_37	missense	35.00	26	14	SNP	0.998	A
CTPS1	1503	genome.wustl.edu	37	1	41462979	41462979	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:41462979delT	ENST00000372621.4	+	9	1380				CTPS1_ENST00000372616.1_Intron|CTPS1_ENST00000541520.1_Intron	NM_001905.2	NP_001896.2			CTP synthase 1											endometrium(3)|lung(10)	13						CCAGACGTGGTTTTTTTTCCC	0.453																																																	0																																										SO:0001627	intron_variant	0			BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.873-87T>-	1.37:g.41462979delT				RNA	DEL	-	NULL	ENST00000372621.4	37	NULL	CCDS459.1	1																																																																																			CTPS1	-	-	ENSG00000171793		0.453	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS1	HGNC	protein_coding	OTTHUMT00000015629.1		0.00	93	0	T	NM_001905		41462979	+1	tier1		no_errors	ENST00000486889	ensembl	human	known	74_37	rna	45.88	46	39	DEL	0.012	-
CTTNBP2NL	55917	genome.wustl.edu	37	1	112999451	112999451	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:112999451G>A	ENST00000271277.6	+	6	1562	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	446					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCAGCCCTGGCTACCAGTCA	0.542																																																	0													202.0	207.0	205.0					1																	112999451		2203	4300	6503	SO:0001583	missense	0			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1337G>A	1.37:g.112999451G>A	ENSP00000271277:p.Gly446Asp		B3KMS5|Q96B40	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N	p.G446D	ENST00000271277.6	37	c.1337	CCDS845.1	1	.	.	.	.	.	.	.	.	.	.	G	9.281	1.048107	0.19827	.	.	ENSG00000143079	ENST00000271277	T	0.22945	1.93	5.56	5.56	0.83823	.	0.510593	0.24145	N	0.041129	T	0.13329	0.0323	L	0.40543	1.245	0.50813	D	0.999897	B	0.22276	0.067	B	0.17433	0.018	T	0.04029	-1.0983	10	0.25106	T	0.35	-7.2434	19.1035	0.93283	0.0:0.0:1.0:0.0	.	446	Q9P2B4	CT2NL_HUMAN	D	446	ENSP00000271277:G446D	ENSP00000271277:G446D	G	+	2	0	CTTNBP2NL	112800974	1.000000	0.71417	0.982000	0.44146	0.407000	0.30961	3.841000	0.55850	2.609000	0.88269	0.462000	0.41574	GGC	CTTNBP2NL	-	NULL	ENSG00000143079		0.542	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2NL	HGNC	protein_coding	OTTHUMT00000030686.1	-	0.00	21	0	G	NM_018704		112999451	+1	tier1	-	no_errors	ENST00000271277	ensembl	human	known	74_37	missense	36.59	26	15	SNP	1.000	A
CUBN	8029	genome.wustl.edu	37	10	16990497	16990497	+	Missense_Mutation	SNP	G	G	A	rs201958183		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:16990497G>A	ENST00000377833.4	-	35	5254	c.5189C>T	c.(5188-5190)aCg>aTg	p.T1730M		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1730	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCGGTGACCGTGGTGTGGAA	0.527																																																	0													84.0	71.0	76.0					10																	16990497		2203	4300	6503	SO:0001583	missense	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5189C>T	10.37:g.16990497G>A	ENSP00000367064:p.Thr1730Met		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.T1730M	ENST00000377833.4	37	c.5189	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021341	0.35701	.	.	ENSG00000107611	ENST00000377833	T	0.36878	1.23	5.55	-1.43	0.08884	CUB (4);	1.538580	0.04191	N	0.328339	T	0.58963	0.2159	M	0.84326	2.69	0.09310	N	1	D	0.63046	0.992	P	0.59012	0.85	T	0.56353	-0.7993	10	0.45353	T	0.12	.	11.8696	0.52513	0.4225:0.0:0.5775:0.0	.	1730	O60494	CUBN_HUMAN	M	1730	ENSP00000367064:T1730M	ENSP00000367064:T1730M	T	-	2	0	CUBN	17030503	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	1.046000	0.30354	-0.607000	0.05738	-1.814000	0.00607	ACG	CUBN	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000107611		0.527	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	-	0.00	69	0	G	NM_001081		16990497	-1	tier1	rs201958183	no_errors	ENST00000377833	ensembl	human	known	74_37	missense	42.42	19	14	SNP	0.000	A
CUBN	8029	genome.wustl.edu	37	10	17165597	17165597	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:17165597delG	ENST00000377833.4	-	5	544	c.479delC	c.(478-480)ccafs	p.P160fs	CUBN_ENST00000377823.1_Frame_Shift_Del_p.P160fs	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	160	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTCCACTGTGGGGGACAGAT	0.428																																																	0													59.0	51.0	54.0					10																	17165597		2203	4300	6503	SO:0001589	frameshift_variant	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.479delC	10.37:g.17165597delG	ENSP00000367064:p.Pro160fs		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.P160fs	ENST00000377833.4	37	c.479	CCDS7113.1	10																																																																																			CUBN	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000107611		0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1		0.00	35	0	G	NM_001081		17165597	-1	tier1		no_errors	ENST00000377833	ensembl	human	known	74_37	frame_shift_del	20.83	19	5	DEL	0.470	-
CUL2	8453	genome.wustl.edu	37	10	35360127	35360127	+	Splice_Site	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:35360127G>A	ENST00000374748.1	-	3	432	c.119C>T	c.(118-120)tCa>tTa	p.S40L	CUL2_ENST00000374746.1_Splice_Site_p.S40L|CUL2_ENST00000602371.1_5'UTR|CUL2_ENST00000374742.1_Splice_Site_p.S40L|CUL2_ENST00000374749.3_Splice_Site_p.S40L|CUL2_ENST00000478044.1_5'UTR|CUL2_ENST00000374751.3_Splice_Site_p.S40L|CUL2_ENST00000537177.1_Splice_Site_p.S59L			Q13617	CUL2_HUMAN	cullin 2	40					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AAAAGGATACGAGAAACGGTC	0.353																																																	0													155.0	130.0	139.0					10																	35360127		2203	4300	6503	SO:0001630	splice_region_variant	0			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.119+1C>T	10.37:g.35360127G>A			B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.S59L	ENST00000374748.1	37	c.176	CCDS7179.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.277750	0.95459	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374742;ENST00000537177;ENST00000421317	T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.3	5.3	0.74995	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.315814	0.34178	N	0.004193	T	0.54208	0.1844	M	0.71871	2.18	0.80722	D	1	D;P;P	0.65815	0.995;0.946;0.746	D;P;B	0.62955	0.909;0.612;0.342	T	0.50600	-0.8809	9	.	.	.	-10.6237	19.1395	0.93443	0.0:0.0:1.0:0.0	.	40;59;40	Q5T2B5;G3V1S2;Q13617	.;.;CUL2_HUMAN	L	40;40;40;40;40;59;40	ENSP00000363883:S40L;ENSP00000363880:S40L;ENSP00000363878:S40L;ENSP00000363881:S40L;ENSP00000363874:S40L;ENSP00000444856:S59L;ENSP00000414095:S40L	.	S	-	2	0	CUL2	35400133	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.476000	0.97823	2.762000	0.94881	0.655000	0.94253	TCA	CUL2	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	ENSG00000108094		0.353	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL2	HGNC	protein_coding	OTTHUMT00000047538.1	-	0.00	41	0	G	NM_003591	Missense_Mutation	35360127	-1	tier1	-	no_errors	ENST00000537177	ensembl	human	known	74_37	missense	53.49	20	23	SNP	1.000	A
CUL4B	8450	genome.wustl.edu	37	X	119666201	119666201	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:119666201delA	ENST00000404115.3	-	20	2895				CUL4B_ENST00000336592.6_Intron|CUL4B_ENST00000371322.5_Intron	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B						cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTACAGGTATAAAAATCTTTA	0.308																																																	0																																										SO:0001627	intron_variant	0			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2493+75T>-	X.37:g.119666201delA			B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	RNA	DEL	-	NULL	ENST00000404115.3	37	NULL	CCDS35379.1	X																																																																																			CUL4B	-	-	ENSG00000158290		0.308	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1		0.00	9	0	A	NM_003588		119666201	-1	tier1		no_errors	ENST00000497616	ensembl	human	known	74_37	rna	57.14	6	8	DEL	0.026	-
CUX2	23316	genome.wustl.edu	37	12	111749924	111749924	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:111749924C>T	ENST00000261726.6	+	16	2075	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	641					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCGAGAATCCGCACGCCTGA	0.617																																																	0													59.0	67.0	65.0					12																	111749924		2089	4212	6301	SO:0001583	missense	0			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.1921C>T	12.37:g.111749924C>T	ENSP00000261726:p.Arg641Cys		A7E2Y4	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.R641C	ENST00000261726.6	37	c.1921	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	c	15.97	2.990142	0.54041	.	.	ENSG00000111249	ENST00000261726	T	0.62498	0.02	4.58	4.58	0.56647	.	0.061324	0.64402	D	0.000004	T	0.77837	0.4190	M	0.79926	2.475	0.54753	D	0.999988	D	0.89917	1.0	D	0.76071	0.987	T	0.80759	-0.1239	10	0.87932	D	0	-11.4411	11.0216	0.47722	0.3279:0.6721:0.0:0.0	.	641	O14529	CUX2_HUMAN	C	641	ENSP00000261726:R641C	ENSP00000261726:R641C	R	+	1	0	CUX2	110234307	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	3.751000	0.55165	2.115000	0.64714	0.281000	0.19383	CGC	CUX2	-	NULL	ENSG00000111249		0.617	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	-	0.00	25	0	C	NM_015267		111749924	+1	tier1	-	no_errors	ENST00000261726	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	T
CWC27	10283	genome.wustl.edu	37	5	64181325	64181326	+	Frame_Shift_Ins	INS	-	-	A	rs199655070		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:64181325_64181326insA	ENST00000381070.3	+	11	1211_1212	c.994_995insA	c.(994-996)caafs	p.Q332fs	CWC27_ENST00000545000.1_3'UTR	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	332					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AGCAGCAAAACAAAAAAAAGTA	0.322																																																	0																																										SO:0001589	frameshift_variant	0			AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.1002dupA	5.37:g.64181333_64181333dupA	ENSP00000370460:p.Gln332fs		O60529|O60530|Q96EM3	Frame_Shift_Ins	INS	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.V335fs	ENST00000381070.3	37	c.994_995	CCDS3982.2	5																																																																																			CWC27	-	NULL	ENSG00000153015		0.322	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWC27	HGNC	protein_coding	OTTHUMT00000157247.4		0.00	40	0	-	NM_005869		64181326	+1	tier1		no_errors	ENST00000381070	ensembl	human	known	74_37	frame_shift_ins	26.09	34	12	INS	1.000:1.000	A
CWF19L1	55280	genome.wustl.edu	37	10	101992924	101992925	+	3'UTR	DEL	AA	AA	-	rs77776452		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:101992924_101992925delAA	ENST00000354105.4	-	0	1762_1763				CWF19L1_ENST00000478047.1_5'UTR|RP11-316M21.6_ENST00000444359.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)								catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		tcttttaattaaaaaaaaaaaa	0.401																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.*60TT>-	10.37:g.101992934_101992935delAA			B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	RNA	DEL	-	NULL	ENST00000354105.4	37	NULL	CCDS7489.1	10																																																																																			CWF19L1	-	-	ENSG00000095485		0.401	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L1	HGNC	protein_coding			0.00	15	0	AA	NM_018294		101992925	-1	tier1		no_errors	ENST00000468709	ensembl	human	known	74_37	rna	43.75	9	7	DEL	0.167:0.180	-
CWF19L2	143884	genome.wustl.edu	37	11	107200652	107200652	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:107200652A>T	ENST00000282251.5	-	17	2560	c.2533T>A	c.(2533-2535)Ttt>Att	p.F845I		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	845							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ACCTTTCCAAAGTAATGAGGG	0.378																																																	0													63.0	59.0	60.0					11																	107200652		2201	4295	6496	SO:0001583	missense	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2533T>A	11.37:g.107200652A>T	ENSP00000282251:p.Phe845Ile		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.F845I	ENST00000282251.5	37	c.2533	CCDS8336.2	11	.	.	.	.	.	.	.	.	.	.	A	24.6	4.547438	0.86022	.	.	ENSG00000152404	ENST00000282251	T	0.64085	-0.08	5.75	5.75	0.90469	Cwf19-like protein, C-terminal domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.84678	0.5525	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88874	0.3335	10	0.72032	D	0.01	-19.194	15.2519	0.73552	1.0:0.0:0.0:0.0	.	845	Q2TBE0	C19L2_HUMAN	I	845	ENSP00000282251:F845I	ENSP00000282251:F845I	F	-	1	0	CWF19L2	106705862	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	9.336000	0.96533	2.194000	0.70268	0.533000	0.62120	TTT	CWF19L2	-	pfam_Cwf19-like_C_dom-2	ENSG00000152404		0.378	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	-	0.00	68	0	A	NM_152434		107200652	-1	tier1	-	no_errors	ENST00000282251	ensembl	human	known	74_37	missense	48.00	39	36	SNP	1.000	T
CWF19L2	143884	genome.wustl.edu	37	11	107299560	107299560	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:107299560delT	ENST00000282251.5	-	8	1425	c.1398delA	c.(1396-1398)aaafs	p.K466fs	CWF19L2_ENST00000433523.1_Frame_Shift_Del_p.K466fs	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	466							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GTAGATGTTCTTTTTTTGGAG	0.363																																																	0													184.0	188.0	187.0					11																	107299560		2201	4298	6499	SO:0001589	frameshift_variant	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1398delA	11.37:g.107299560delT	ENSP00000282251:p.Lys466fs		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Frame_Shift_Del	DEL	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.E467fs	ENST00000282251.5	37	c.1398	CCDS8336.2	11																																																																																			CWF19L2	-	NULL	ENSG00000152404		0.363	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2		0.00	115	0	T	NM_152434		107299560	-1	tier1		no_errors	ENST00000282251	ensembl	human	known	74_37	frame_shift_del	40.00	60	40	DEL	0.186	-
CXADRP3	440224	genome.wustl.edu	37	18	14478362	14478362	+	lincRNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:14478362G>A	ENST00000581457.1	-	0	1546					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		TGGATTCCAGGGATGAATGAT	0.473																																																	0																																												0					18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478362G>A				RNA	SNP	-	NULL	ENST00000581457.1	37	NULL		18																																																																																			CXADRP3	-	-	ENSG00000265766		0.473	CXADRP3-001	KNOWN	basic	lincRNA	CXADRP3	HGNC	lincRNA	OTTHUMT00000443008.1	-	0.00	54	0	G	NR_024076		14478362	-1	tier1	-	no_errors	ENST00000581457	ensembl	human	known	74_37	rna	35.56	29	16	SNP	1.000	A
MED11	400569	genome.wustl.edu	37	17	4637776	4637777	+	IGR	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:4637776_4637777insA	ENST00000293777.5	+	0	833				CXCL16_ENST00000293778.6_Splice_Site|CXCL16_ENST00000576153.1_Splice_Site|CXCL16_ENST00000574412.1_3'UTR|RP11-314A20.5_ENST00000570493.2_RNA	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						agtccgtctctaaaaaacaaaa	0.436																																																	0																																										SO:0001628	intergenic_variant	0			AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"""mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"""			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086			17.37:g.4637782_4637782dupA			Q6NS89	Splice_Site	INS	-	e6-2	ENST00000293777.5	37	c.822-3_4	CCDS32533.1	17																																																																																			CXCL16	-	-	ENSG00000161921		0.436	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL16	HGNC	protein_coding	OTTHUMT00000439574.1		0.00	32	0	-	NM_001001683		4637777	-1	tier1		no_errors	ENST00000293778	ensembl	human	known	74_37	splice_site_ins	21.21	26	7	INS	0.001:0.000	A
CXXC4	80319	genome.wustl.edu	37	4	105393330	105393332	+	IGR	DEL	TTT	TTT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:105393330_105393332delTTT	ENST00000426831.1	-	0	746				CXXC4_ENST00000466963.1_5'UTR|CXXC4_ENST00000394767.2_3'UTR			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4						negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		tcttttcctcttttttttttttt	0.286																																																	0																																										SO:0001628	intergenic_variant	0				CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121		4.37:g.105393339_105393341delTTT				RNA	DEL	-	NULL	ENST00000426831.1	37	NULL		4																																																																																			CXXC4	-	-	ENSG00000168772		0.286	CXXC4-201	KNOWN	basic	protein_coding	CXXC4	HGNC	protein_coding			0.00	38	0	TTT	NM_025212		105393332	-1	tier1		no_errors	ENST00000466963	ensembl	human	known	74_37	rna	31.71	28	13	DEL	0.073:0.076:0.062	-
CYB5R3	1727	genome.wustl.edu	37	22	43040443	43040443	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:43040443G>A	ENST00000352397.5	-	1	274				CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000396303.3_Intron|CYB5R3_ENST00000361740.4_Missense_Mutation_p.R25C|CYB5R3_ENST00000402438.1_Intron	NM_000398.6	NP_000389.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3						blood circulation (GO:0008015)|cholesterol biosynthetic process (GO:0006695)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|hemoglobin complex (GO:0005833)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|FAD binding (GO:0071949)|flavin adenine dinucleotide binding (GO:0050660)|NAD binding (GO:0051287)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					Flavin adenine dinucleotide(DB03147)	tgcttcaggcgttcgcatatg	0.522																																																	0													299.0	258.0	271.0					22																	43040443		692	1591	2283	SO:0001627	intron_variant	0			M16461	CCDS14040.1, CCDS33658.1, CCDS54535.1	22q13.2	2012-10-02		2005-07-13	ENSG00000100243	ENSG00000100243	1.6.2.2		2873	protein-coding gene	gene with protein product		613213	"""diaphorase (NADH) (cytochrome b-5 reductase)"""	DIA1		2479590, 3268037	Standard	NM_001129819		Approved		uc011aps.2	P00387	OTTHUMG00000150745	ENST00000352397.5:c.21+4857C>T	22.37:g.43040443G>A			B1AHF2|B7Z7L3|O75675|Q8TDL8|Q8WTS8|Q9UEN4|Q9UEN5|Q9UL55|Q9UL56	Missense_Mutation	SNP	pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	p.R25C	ENST00000352397.5	37	c.73	CCDS33658.1	22	.	.	.	.	.	.	.	.	.	.	G	9.020	0.984651	0.18889	.	.	ENSG00000100243	ENST00000361740	D	0.89270	-2.49	2.66	1.57	0.23409	.	.	.	.	.	T	0.81278	0.4789	.	.	.	0.09310	N	1	P	0.35050	0.482	B	0.28638	0.092	T	0.71676	-0.4521	8	0.66056	D	0.02	.	7.5413	0.27740	0.0:0.6503:0.3497:0.0	.	25	B7Z7L3	.	C	25	ENSP00000354468:R25C	ENSP00000354468:R25C	R	-	1	0	CYB5R3	41370387	0.000000	0.05858	0.024000	0.17045	0.015000	0.08874	0.000000	0.12993	0.641000	0.30601	-0.300000	0.09419	CGC	CYB5R3	-	NULL	ENSG00000100243		0.522	CYB5R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R3	HGNC	protein_coding	OTTHUMT00000320439.1	-	0.00	66	0	G			43040443	-1	tier1	-	no_errors	ENST00000361740	ensembl	human	known	74_37	missense	33.33	42	21	SNP	0.025	A
CYFIP1	23191	genome.wustl.edu	37	15	22945143	22945144	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GC	GC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:22945143_22945144delGC	ENST00000313077.7	+	12	1339_1340	c.1214_1215delGC	c.(1213-1215)agcfs	p.S405fs	CYFIP1_ENST00000560848.1_Frame_Shift_Del_p.S405fs	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCGCAGTGGAGCGCGCACGTGA	0.639																																																	0																																										SO:0001589	frameshift_variant	0			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1214_1215delGC	15.37:g.22945147_22945148delGC	ENSP00000324549:p.Ser405fs			Frame_Shift_Del	DEL	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.H407fs	ENST00000313077.7	37	c.1214_1215	CCDS10009.1	15																																																																																			CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000068793		0.639	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2		0.00	31	0	GC	NM_014608		22945144	+1	tier1		no_errors	ENST00000313077	ensembl	human	known	74_37	frame_shift_del	42.31	15	11	DEL	1.000:0.996	-
CYFIP2	26999	genome.wustl.edu	37	5	156786063	156786063	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:156786063G>T	ENST00000442283.2	+	25	2859	c.577G>T	c.(577-579)Ggg>Tgg	p.G193W	CYFIP2_ENST00000521420.1_Silent_p.V882V|CYFIP2_ENST00000347377.6_Silent_p.V908V|CYFIP2_ENST00000541131.1_Silent_p.V833V|CYFIP2_ENST00000318218.6_Silent_p.V933V|CYFIP2_ENST00000435847.2_Silent_p.V607V|CYFIP2_ENST00000377576.3_Silent_p.V908V|CYFIP2_ENST00000522463.1_Silent_p.V712V	NM_001037333.1	NP_001032410.1			cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGAATTTCGTGGGGCCACCTC	0.488																																																	0													183.0	187.0	186.0					5																	156786063		2003	4176	6179	SO:0001583	missense	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000442283.2:c.577G>T	5.37:g.156786063G>T	ENSP00000390948:p.Gly193Trp			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,superfamily_Chemokine_IL8-like_dom	p.G193W	ENST00000442283.2	37	c.577		5	.	.	.	.	.	.	.	.	.	.	G	15.55	2.866740	0.51588	.	.	ENSG00000055163	ENST00000442283	T	0.28666	1.6	5.28	4.4	0.53042	.	.	.	.	.	T	0.41236	0.1150	.	.	.	0.27626	N	0.948185	.	.	.	.	.	.	T	0.32322	-0.9911	6	0.87932	D	0	-29.3084	13.1211	0.59327	0.0:0.0:0.7089:0.2911	.	.	.	.	W	193	ENSP00000390948:G193W	ENSP00000390948:G193W	G	+	1	0	CYFIP2	156718641	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.984000	0.49353	1.198000	0.43158	0.655000	0.94253	GGG	CYFIP2	-	pfam_Cytoplasmic_FMR1-int,superfamily_Chemokine_IL8-like_dom	ENSG00000055163		0.488	CYFIP2-205	KNOWN	basic	protein_coding	CYFIP2	HGNC	protein_coding		-	0.00	84	0	G	NM_001037332		156786063	+1	tier1	-	no_errors	ENST00000442283	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
CYGB	114757	genome.wustl.edu	37	17	74524670	74524670	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:74524670G>A	ENST00000293230.5	-	4	925	c.563C>T	c.(562-564)tCg>tTg	p.S188L	CYGB_ENST00000586160.1_5'UTR|CYGB_ENST00000589145.1_Missense_Mutation_p.S123L|PRCD_ENST00000592432.1_Intron|CYGB_ENST00000590175.1_Missense_Mutation_p.S123L|CYGB_ENST00000589342.1_Silent_p.F133F	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	188					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						CTACGGCCCCGAAGAGGGCAG	0.632																																																	0													42.0	38.0	39.0					17																	74524670		2196	4289	6485	SO:0001583	missense	0			AJ315162	CCDS11746.1	17q25	2008-07-18				ENSG00000161544			16505	protein-coding gene	gene with protein product	"""stellate cell activation-associated protein"", ""histoglobin"""	608759				11919282	Standard	NM_134268		Approved	HGB, STAP	uc002jru.2	Q8WWM9		ENST00000293230.5:c.563C>T	17.37:g.74524670G>A	ENSP00000293230:p.Ser188Leu		Q541Y7|Q8N2X5	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish,prints_Myoglobin	p.S188L	ENST00000293230.5	37	c.563	CCDS11746.1	17	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464374	0.63513	.	.	ENSG00000161544	ENST00000293230	D	0.94497	-3.44	4.62	4.62	0.57501	.	0.472370	0.16601	N	0.207360	D	0.88555	0.6468	L	0.36672	1.1	0.80722	D	1	P	0.45474	0.859	B	0.23150	0.044	D	0.90275	0.4310	10	0.87932	D	0	-0.0708	14.9748	0.71264	0.0:0.0:1.0:0.0	.	188	Q8WWM9	CYGB_HUMAN	L	188	ENSP00000293230:S188L	ENSP00000293230:S188L	S	-	2	0	CYGB	72036265	0.996000	0.38824	0.988000	0.46212	0.769000	0.43574	5.159000	0.64923	2.124000	0.65301	0.313000	0.20887	TCG	CYGB	-	NULL	ENSG00000161544		0.632	CYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYGB	HGNC	protein_coding	OTTHUMT00000450590.1	-	0.00	85	0	G	NM_134268		74524670	-1	tier1	-	no_errors	ENST00000293230	ensembl	human	known	74_37	missense	37.50	40	24	SNP	0.879	A
CYP11B2	1585	genome.wustl.edu	37	8	143994741	143994741	+	Missense_Mutation	SNP	C	C	T	rs202173105		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:143994741C>T	ENST00000323110.2	-	6	1083	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	361					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	AAGGGCAGCTCGGTGGTTGCC	0.687									Familial Hyperaldosteronism type I																																								0													49.0	53.0	52.0					8																	143994741		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1081G>A	8.37:g.143994741C>T	ENSP00000325822:p.Glu361Lys		B0ZBE4|Q16726	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.E361K	ENST00000323110.2	37	c.1081	CCDS6393.1	8	.	.	.	.	.	.	.	.	.	.	.	13.95	2.389734	0.42410	.	.	ENSG00000179142	ENST00000323110	T	0.66460	-0.21	3.88	3.88	0.44766	.	0.456851	0.18587	N	0.136855	T	0.52108	0.1714	L	0.42487	1.325	0.27062	N	0.963535	P	0.47106	0.89	B	0.40199	0.322	T	0.42899	-0.9424	10	0.13108	T	0.6	.	8.8035	0.34923	0.2246:0.7754:0.0:0.0	.	361	P19099	C11B2_HUMAN	K	361	ENSP00000325822:E361K	ENSP00000325822:E361K	E	-	1	0	CYP11B2	143991743	0.000000	0.05858	0.871000	0.34182	0.076000	0.17211	-0.119000	0.10676	1.991000	0.58162	0.558000	0.71614	GAG	CYP11B2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000179142		0.687	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	HGNC	protein_coding	OTTHUMT00000359904.1	-	0.00	79	0	C			143994741	-1	tier1	rs202173105	no_errors	ENST00000323110	ensembl	human	known	74_37	missense	29.73	52	22	SNP	0.961	T
CYP11B2	1585	genome.wustl.edu	37	8	143995767	143995767	+	Silent	SNP	G	G	A	rs547347545	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:143995767G>A	ENST00000323110.2	-	5	869	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	289					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GCTCCGCCACGATGCCTGTGT	0.562									Familial Hyperaldosteronism type I				.|||	8	0.00159744	0.0	0.0	5008	,	,		19314	0.0		0.0	False		,,,				2504	0.0082																0													150.0	124.0	133.0					8																	143995767		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.867C>T	8.37:g.143995767G>A			B0ZBE4|Q16726	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.I289	ENST00000323110.2	37	c.867	CCDS6393.1	8																																																																																			CYP11B2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000179142		0.562	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	HGNC	protein_coding	OTTHUMT00000359904.1	-	0.00	76	0	G			143995767	-1	tier1	-	no_errors	ENST00000323110	ensembl	human	known	74_37	silent	26.88	68	25	SNP	0.972	A
CYP24A1	1591	genome.wustl.edu	37	20	52782309	52782309	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:52782309G>T	ENST00000216862.3	-	5	1097	c.704C>A	c.(703-705)gCt>gAt	p.A235D	CYP24A1_ENST00000395954.3_Missense_Mutation_p.A93D|CYP24A1_ENST00000395955.3_Missense_Mutation_p.A235D	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	235					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.A235D(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GAAGTTCACAGCTTCATCCCC	0.388																																																	1	Substitution - Missense(1)	endometrium(1)											130.0	117.0	121.0					20																	52782309		2203	4300	6503	SO:0001583	missense	0			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.704C>A	20.37:g.52782309G>T	ENSP00000216862:p.Ala235Asp		Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.A235D	ENST00000216862.3	37	c.704	CCDS33491.1	20	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976472	0.53720	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.69926	-0.44;-0.44;-0.44	5.37	5.37	0.77165	.	0.422973	0.25200	N	0.032389	T	0.80171	0.4574	M	0.82323	2.585	0.39242	D	0.96387	D;D;D	0.57899	0.981;0.966;0.966	P;P;P	0.57776	0.827;0.827;0.761	D	0.84023	0.0355	10	0.72032	D	0.01	-16.1	14.8201	0.70065	0.0:0.1547:0.8453:0.0	.	235;235;93	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	D	235;235;93	ENSP00000216862:A235D;ENSP00000379285:A235D;ENSP00000379284:A93D	ENSP00000216862:A235D	A	-	2	0	CYP24A1	52215716	1.000000	0.71417	0.311000	0.25182	0.288000	0.27193	5.306000	0.65756	2.672000	0.90937	0.557000	0.71058	GCT	CYP24A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000019186		0.388	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP24A1	HGNC	protein_coding	OTTHUMT00000079769.2	-	0.00	54	0	G			52782309	-1	tier1	-	no_errors	ENST00000216862	ensembl	human	known	74_37	missense	11.63	38	5	SNP	0.981	T
CYP2C9	1559	genome.wustl.edu	37	10	96740985	96740985	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:96740985G>T	ENST00000260682.6	+	7	1019	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	336					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGAAACCGGAGCCCCTGCATG	0.498																																					Ovarian(54;1266 1406 16072 35076)												0													172.0	150.0	157.0					10																	96740985		2203	4300	6503	SO:0001583	missense	0			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1007G>T	10.37:g.96740985G>T	ENSP00000260682:p.Ser336Ile		P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.S336I	ENST00000260682.6	37	c.1007	CCDS7437.1	10	.	.	.	.	.	.	.	.	.	.	.	1.462	-0.562065	0.03939	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.69806	-0.43	3.78	1.75	0.24633	.	0.422132	0.21680	U	0.070740	T	0.45135	0.1327	L	0.33668	1.02	0.27825	N	0.941664	P;P	0.35272	0.493;0.493	B;B	0.26693	0.072;0.072	T	0.27088	-1.0084	10	0.17832	T	0.49	.	7.8134	0.29245	0.0:0.1782:0.6379:0.1839	.	336;336	Q5VX92;P11712	.;CP2C9_HUMAN	I	336	ENSP00000260682:S336I	ENSP00000260682:S336I	S	+	2	0	CYP2C9	96730975	0.901000	0.30685	0.977000	0.42913	0.215000	0.24574	1.840000	0.39230	0.328000	0.23435	0.305000	0.20034	AGC	CYP2C9	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000138109		0.498	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C9	HGNC	protein_coding	OTTHUMT00000049501.1		0.00	92	0	G	NM_000771		96740985	+1			no_errors	ENST00000260682	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.928	T
CYP2U1	113612	genome.wustl.edu	37	4	108866275	108866275	+	Missense_Mutation	SNP	G	G	A	rs539068584		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:108866275G>A	ENST00000332884.6	+	2	915	c.640G>A	c.(640-642)Gga>Aga	p.G214R	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.G5R	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	214					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GCAAAAGCACGGAGAAGACCC	0.438																																																	0													129.0	126.0	127.0					4																	108866275		2203	4300	6503	SO:0001583	missense	0			BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.640G>A	4.37:g.108866275G>A	ENSP00000333212:p.Gly214Arg		B2RMV7|Q96EQ6	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like	p.G214R	ENST00000332884.6	37	c.640	CCDS34047.1	4	.	.	.	.	.	.	.	.	.	.	g	19.06	3.754539	0.69648	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.79352	-1.26;-1.26	5.63	4.79	0.61399	.	0.049053	0.85682	N	0.000000	T	0.70150	0.3191	L	0.54965	1.715	0.48571	D	0.999675	P	0.38535	0.635	B	0.30855	0.121	T	0.69514	-0.5125	10	0.33141	T	0.24	.	14.4885	0.67634	0.0707:0.0:0.9293:0.0	.	214	Q7Z449	CP2U1_HUMAN	R	214;171;5	ENSP00000333212:G214R;ENSP00000423667:G5R	ENSP00000333212:G214R	G	+	1	0	CYP2U1	109085724	1.000000	0.71417	0.207000	0.23584	0.675000	0.39556	6.398000	0.73244	1.399000	0.46721	-0.119000	0.15052	GGA	CYP2U1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000155016		0.438	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2U1	HGNC	protein_coding	OTTHUMT00000363691.2	-	0.00	54	0	G	NM_183075		108866275	+1	tier1	-	no_errors	ENST00000332884	ensembl	human	known	74_37	missense	37.25	32	19	SNP	0.996	A
CYP46A1	10858	genome.wustl.edu	37	14	100182232	100182232	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:100182232G>A	ENST00000261835.3	+	8	883	c.779G>A	c.(778-780)cGc>cAc	p.R260H	CYP46A1_ENST00000554176.1_Missense_Mutation_p.R107H|CYP46A1_ENST00000423126.2_Missense_Mutation_p.R163H	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	260					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TGGGTCCAGCGCCGCCGGGAA	0.647																																																	0													27.0	32.0	30.0					14																	100182232		2203	4300	6503	SO:0001583	missense	0			AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.779G>A	14.37:g.100182232G>A	ENSP00000261835:p.Arg260His		B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.R260H	ENST00000261835.3	37	c.779	CCDS9954.1	14	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710137	0.68730	.	.	ENSG00000036530	ENST00000261835;ENST00000423126;ENST00000554176;ENST00000556313	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	4.37	4.37	0.52481	.	0.415075	0.25205	N	0.032349	T	0.61689	0.2367	L	0.46819	1.47	0.46298	D	0.99897	P;D	0.52996	0.883;0.957	B;B	0.43889	0.414;0.435	T	0.67488	-0.5658	10	0.62326	D	0.03	.	13.1522	0.59496	0.0:0.0:1.0:0.0	.	107;260	Q8N2B0;Q9Y6A2	.;CP46A_HUMAN	H	260;163;107;13	ENSP00000261835:R260H;ENSP00000405779:R163H;ENSP00000450553:R107H;ENSP00000451602:R13H	ENSP00000261835:R260H	R	+	2	0	CYP46A1	99251985	0.398000	0.25279	0.998000	0.56505	0.995000	0.86356	0.425000	0.21346	2.371000	0.80710	0.561000	0.74099	CGC	CYP46A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000036530		0.647	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP46A1	HGNC	protein_coding	OTTHUMT00000413814.1	-	0.00	64	0	G			100182232	+1	tier1	-	no_errors	ENST00000261835	ensembl	human	known	74_37	missense	43.55	35	27	SNP	1.000	A
CYP4Z1	199974	genome.wustl.edu	37	1	47534379	47534379	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:47534379C>T	ENST00000334194.3	+	2	266	c.263C>T	c.(262-264)aCg>aTg	p.T88M		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	88						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GGACCCTTTACGATGTTCTTC	0.438																																																	0													192.0	168.0	176.0					1																	47534379		2203	4300	6503	SO:0001583	missense	0			AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.263C>T	1.37:g.47534379C>T	ENSP00000334246:p.Thr88Met		Q5VVE4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.T88M	ENST00000334194.3	37	c.263	CCDS545.1	1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295554	0.40594	.	.	ENSG00000186160	ENST00000334194	T	0.70045	-0.45	2.83	0.194	0.15143	.	1.013080	0.07961	U	0.982406	T	0.53142	0.1778	N	0.11698	0.16	0.09310	N	1	D	0.69078	0.997	P	0.53035	0.716	T	0.42344	-0.9457	10	0.34782	T	0.22	.	3.2575	0.06837	0.4992:0.2883:0.0:0.2125	.	88	Q86W10	CP4Z1_HUMAN	M	88	ENSP00000334246:T88M	ENSP00000334246:T88M	T	+	2	0	CYP4Z1	47306966	0.000000	0.05858	0.003000	0.11579	0.705000	0.40729	-0.151000	0.10175	-0.074000	0.12820	0.461000	0.40582	ACG	CYP4Z1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000186160		0.438	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4Z1	HGNC	protein_coding	OTTHUMT00000022020.1	-	0.00	158	0	C	NM_178134		47534379	+1	tier1	-	no_errors	ENST00000334194	ensembl	human	known	74_37	missense	40.00	87	58	SNP	0.017	T
DAAM2	23500	genome.wustl.edu	37	6	39869234	39869234	+	Missense_Mutation	SNP	C	C	T	rs368619961	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:39869234C>T	ENST00000398904.2	+	24	3150	c.2968C>T	c.(2968-2970)Cgc>Tgc	p.R990C	DAAM2_ENST00000274867.4_Missense_Mutation_p.R990C|RP11-61I13.3_ENST00000437947.1_RNA|DAAM2_ENST00000538976.1_Missense_Mutation_p.R989C			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	990	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.R989C(3)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCGGCGGGCGCGCATGGAAGC	0.622													C|||	3	0.000599042	0.0015	0.0	5008	,	,		14261	0.0		0.001	False		,,,				2504	0.0																3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)						C	CYS/ARG,CYS/ARG	0,4074		0,0,2037	28.0	31.0	30.0		2968,2965	5.2	1.0	6		30	1,8341		0,1,4170	no	missense,missense	DAAM2	NM_001201427.1,NM_015345.3	180,180	0,1,6207	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging,possibly-damaging	990/1069,989/1068	39869234	1,12415	2037	4171	6208	SO:0001583	missense	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2968C>T	6.37:g.39869234C>T	ENSP00000381876:p.Arg990Cys		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.R990C	ENST00000398904.2	37	c.2968	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940565	0.73557	0.0	1.2E-4	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.81739	-1.52;-1.52;-1.53	5.17	5.17	0.71159	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (1);	0.208599	0.42053	D	0.000768	T	0.79862	0.4519	M	0.83118	2.625	0.80722	D	1	P;P	0.47545	0.897;0.688	B;B	0.41440	0.357;0.09	D	0.84864	0.0821	10	0.72032	D	0.01	.	18.6645	0.91485	0.0:1.0:0.0:0.0	.	989;990	G5EA45;Q86T65	.;DAAM2_HUMAN	C	990;990;989	ENSP00000274867:R990C;ENSP00000381876:R990C;ENSP00000437808:R989C	ENSP00000274867:R990C	R	+	1	0	DAAM2	39977212	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.711000	0.61881	2.578000	0.87016	0.655000	0.94253	CGC	DAAM2	-	smart_FH2_Formin	ENSG00000146122		0.622	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	-	0.00	13	0	C			39869234	+1	tier1	-	no_errors	ENST00000274867	ensembl	human	known	74_37	missense	30.77	9	4	SNP	1.000	T
DAB2IP	153090	genome.wustl.edu	37	9	124530759	124530759	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:124530759G>T	ENST00000408936.3	+	10	1928	c.1746G>T	c.(1744-1746)gaG>gaT	p.E582D	DAB2IP_ENST00000259371.2_Missense_Mutation_p.E554D|DAB2IP_ENST00000309989.1_Missense_Mutation_p.E458D			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	582					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGTTCCTAGAGCATGAGTGGA	0.597																																																	0													146.0	128.0	134.0					9																	124530759		2203	4300	6503	SO:0001583	missense	0			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1746G>T	9.37:g.124530759G>T	ENSP00000386183:p.Glu582Asp		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.E582D	ENST00000408936.3	37	c.1746		9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094371	0.76870	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.82	0.815	0.18763	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	M	0.70595	2.14	0.58432	D	0.99999	P;P	0.48640	0.674;0.913	P;P	0.57057	0.67;0.812	T	0.05468	-1.0883	10	0.87932	D	0	.	9.7377	0.40397	0.3629:0.0:0.6371:0.0	.	582;554	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	D	554;582;491;458	ENSP00000259371:E554D;ENSP00000386183:E582D;ENSP00000362887:E491D;ENSP00000310827:E458D	ENSP00000259371:E554D	E	+	3	2	DAB2IP	123570580	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	1.137000	0.31479	0.197000	0.20387	0.557000	0.71058	GAG	DAB2IP	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP	ENSG00000136848		0.597	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	-	0.00	45	0	G	NM_032552		124530759	+1	tier1	-	no_errors	ENST00000408936	ensembl	human	known	74_37	missense	8.00	46	4	SNP	1.000	T
DAOA	267012	genome.wustl.edu	37	13	106118696	106118697	+	Intron	INS	-	-	T	rs543455323		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:106118696_106118697insT	ENST00000375936.3	+	1	90				DAOA_ENST00000329625.5_Intron|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator						negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					gtagcttggggttttttacagc	0.51																																																	0																																										SO:0001627	intron_variant	0			AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"""G72 transcript"""	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.44+15->T	13.37:g.106118702_106118702dupT			A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	RNA	INS	-	NULL	ENST00000375936.3	37	NULL	CCDS41905.1	13																																																																																			DAOA-AS1	-	-	ENSG00000232307		0.510	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DAOA-AS1	HGNC	protein_coding	OTTHUMT00000099040.2		0.00	115	0	-	NM_172370		106118697	-1	tier1		no_errors	ENST00000448407	ensembl	human	known	74_37	rna	19.12	110	26	INS	0.000:0.001	T
DAPK1	1612	genome.wustl.edu	37	9	90321801	90321802	+	Frame_Shift_Ins	INS	-	-	G	rs56169226	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:90321801_90321802insG	ENST00000408954.3	+	26	4150_4151	c.3815_3816insG	c.(3814-3819)atggggfs	p.MG1272fs	DAPK1_ENST00000469640.2_Frame_Shift_Ins_p.MG1297fs|DAPK1_ENST00000358077.5_Frame_Shift_Ins_p.MG1272fs|DAPK1_ENST00000491893.1_Frame_Shift_Ins_p.MG1206fs|DAPK1_ENST00000472284.1_Frame_Shift_Ins_p.MG1272fs	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1272			M -> I (in dbSNP:rs56169226). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Y1276fs*31(1)|p.Y1275fs*31(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ACCAACACCATGGGGGGGTACA	0.584									Chronic Lymphocytic Leukemia, Familial Clustering of																																								2	Deletion - Frameshift(2)	large_intestine(2)																																								SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3822dupG	9.37:g.90321808_90321808dupG	ENSP00000386135:p.Met1272fs		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Frame_Shift_Ins	INS	pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.Y1300fs	ENST00000408954.3	37	c.3890_3891	CCDS43842.1	9																																																																																			DAPK1	-	NULL	ENSG00000196730		0.584	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1		0.00	43	0	-	NM_004938		90321802	+1	tier1		no_errors	ENST00000469640	ensembl	human	known	74_37	frame_shift_ins	36.36	14	8	INS	1.000:1.000	G
DBH	1621	genome.wustl.edu	37	9	136507451	136507451	+	Silent	SNP	C	C	T	rs542369046		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:136507451C>T	ENST00000393056.2	+	3	621	c.609C>T	c.(607-609)ccC>ccT	p.P203P		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	203					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCAATATCCCCGAACCGGAGT	0.617																																																	0													61.0	58.0	59.0					9																	136507451		2203	4300	6503	SO:0001819	synonymous_variant	0			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.609C>T	9.37:g.136507451C>T			Q5T381|Q96AG2	Silent	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.P203	ENST00000393056.2	37	c.609	CCDS6977.2	9																																																																																			DBH	-	superfamily_PHM/PNGase_F_dom	ENSG00000123454		0.617	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBH	HGNC	protein_coding	OTTHUMT00000054929.2	-	0.00	85	0	C	NM_000787		136507451	+1	tier1	-	no_errors	ENST00000393056	ensembl	human	known	74_37	silent	44.16	43	34	SNP	0.007	T
DBX1	120237	genome.wustl.edu	37	11	20177882	20177882	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:20177882G>A	ENST00000524983.2	-	4	1198	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	DBX1_ENST00000227256.3_Missense_Mutation_p.R343W			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	304					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CCTGGCAGCCGCGGGTCCCGC	0.716																																																	0													19.0	25.0	23.0					11																	20177882		2171	4241	6412	SO:0001583	missense	0					11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.910C>T	11.37:g.20177882G>A	ENSP00000436881:p.Arg304Trp			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R343W	ENST00000524983.2	37	c.1027		11	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880350	0.51801	.	.	ENSG00000109851	ENST00000524983;ENST00000227256	D;T	0.91295	-2.82;0.07	4.53	3.58	0.41010	.	0.106116	0.37761	N	0.001954	D	0.87418	0.6172	L	0.27053	0.805	0.29985	N	0.81735	D	0.67145	0.996	P	0.50754	0.649	D	0.84635	0.0692	10	0.72032	D	0.01	-21.6625	11.2874	0.49230	0.0:0.0:0.6685:0.3315	.	343	F8W811	.	W	304;343	ENSP00000436881:R304W;ENSP00000227256:R343W	ENSP00000227256:R343W	R	-	1	2	DBX1	20134458	0.082000	0.21442	0.084000	0.20598	0.415000	0.31203	0.583000	0.23849	0.847000	0.35167	0.655000	0.94253	CGG	DBX1	-	NULL	ENSG00000109851		0.716	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	DBX1	HGNC	protein_coding	OTTHUMT00000387585.2	-	0.00	50	0	G	NM_001029865		20177882	-1	tier1	-	no_errors	ENST00000227256	ensembl	human	known	74_37	missense	57.14	18	24	SNP	0.583	A
DCAF12L1	139170	genome.wustl.edu	37	X	125686220	125686220	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:125686220G>A	ENST00000371126.1	-	1	614	c.372C>T	c.(370-372)gaC>gaT	p.D124D		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	124										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGACTCCACGTCCACCACGA	0.622																																																	0													123.0	92.0	103.0					X																	125686220		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.372C>T	X.37:g.125686220G>A			Q8IYK3	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D124	ENST00000371126.1	37	c.372	CCDS14610.1	X																																																																																			DCAF12L1	-	superfamily_WD40_repeat_dom	ENSG00000198889		0.622	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	-	0.00	48	0	G	NM_178470		125686220	-1	tier1	-	no_errors	ENST00000371126	ensembl	human	known	74_37	silent	75.61	10	31	SNP	0.996	A
DCAF4	26094	genome.wustl.edu	37	14	73407001	73407001	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:73407001delC	ENST00000358377.2	+	4	487	c.267delC	c.(265-267)aacfs	p.N89fs	DCAF4_ENST00000555042.1_Frame_Shift_Del_p.N89fs|DCAF4_ENST00000353777.3_Frame_Shift_Del_p.N89fs|DCAF4_ENST00000394234.2_5'UTR|DCAF4_ENST00000553457.1_5'UTR|DCAF4_ENST00000509153.1_Frame_Shift_Del_p.N89fs	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	89					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						ACAACTGCAACCCCCTGACGA	0.502																																																	0													110.0	108.0	109.0					14																	73407001		2203	4300	6503	SO:0001589	frameshift_variant	0			BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.267delC	14.37:g.73407001delC	ENSP00000351147:p.Asn89fs		B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L91fs	ENST00000358377.2	37	c.267	CCDS9809.1	14																																																																																			DCAF4	-	NULL	ENSG00000119599		0.502	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF4	HGNC	protein_coding	OTTHUMT00000361058.1		0.00	74	0	C	NM_015604		73407001	+1	tier1		no_errors	ENST00000358377	ensembl	human	known	74_37	frame_shift_del	10.61	59	7	DEL	1.000	-
DCAF6	55827	genome.wustl.edu	37	1	168032896	168032896	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:168032896C>T	ENST00000312263.6	+	15	2269	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W	DCAF6_ENST00000367843.3_Missense_Mutation_p.R709W|DCAF6_ENST00000367840.3_Missense_Mutation_p.R780W|DCAF6_ENST00000432587.2_Missense_Mutation_p.R749W	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	689	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GTTCTTCAGACGGAGAAAAGA	0.333																																																	0													45.0	44.0	44.0					1																	168032896		2203	4299	6502	SO:0001583	missense	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2065C>T	1.37:g.168032896C>T	ENSP00000311949:p.Arg689Trp		A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.R780W	ENST00000312263.6	37	c.2338	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319710	0.60524	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;T;D;D	0.83755	-1.64;0.05;-1.65;-1.76	5.63	-0.655	0.11439	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79718	0.4494	N	0.19112	0.55	0.50171	D	0.999858	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.988;0.997;0.997;0.999	T	0.82232	-0.0559	9	0.72032	D	0.01	.	18.5548	0.91080	0.7564:0.2436:0.0:0.0	.	749;780;689;709	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	W	709;749;689;780	ENSP00000356817:R709W;ENSP00000396238:R749W;ENSP00000311949:R689W;ENSP00000356814:R780W	ENSP00000311949:R689W	R	+	1	2	DCAF6	166299520	1.000000	0.71417	0.997000	0.53966	0.700000	0.40528	1.228000	0.32588	-0.075000	0.12798	-0.324000	0.08512	CGG	DCAF6	-	superfamily_WD40_repeat_dom,pfscan_IQ_motif_EF-hand-BS	ENSG00000143164		0.333	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	-	0.00	18	0	C	NM_018442		168032896	+1	tier1	-	no_errors	ENST00000367840	ensembl	human	known	74_37	missense	25.00	33	11	SNP	0.999	T
DCAF6	55827	genome.wustl.edu	37	1	168034905	168034905	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:168034905G>A	ENST00000312263.6	+	16	2448	c.2244G>A	c.(2242-2244)cgG>cgA	p.R748R	DCAF6_ENST00000367843.3_Silent_p.R768R|DCAF6_ENST00000367840.3_Silent_p.R839R|DCAF6_ENST00000432587.2_Silent_p.R808R	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	748					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TCTGGGATCGGCACACTGCTG	0.413																																																	0													75.0	72.0	73.0					1																	168034905		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.2244G>A	1.37:g.168034905G>A			A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom	p.R839	ENST00000312263.6	37	c.2517	CCDS30933.1	1																																																																																			DCAF6	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000143164		0.413	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCAF6	HGNC	protein_coding	OTTHUMT00000083661.2	-	0.00	29	0	G	NM_018442		168034905	+1	tier1	-	no_errors	ENST00000367840	ensembl	human	known	74_37	silent	6.06	62	4	SNP	0.993	A
DCAF7	10238	genome.wustl.edu	37	17	61667770	61667770	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:61667770delA	ENST00000310827.4	+	0	2482				DCAF7_ENST00000577702.1_3'UTR	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7						multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						AAAAGGGAGGAAAAAAAAAGA	0.463																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.*1236A>-	17.37:g.61667770delA			B4E039|D3DU14|O15491|Q9DAE4	RNA	DEL	-	NULL	ENST00000310827.4	37	NULL		17																																																																																			DCAF7	-	-	ENSG00000136485		0.463	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	DCAF7	HGNC	protein_coding			0.00	89	0	A	NM_005828		61667770	+1	tier1		no_errors	ENST00000577702	ensembl	human	known	74_37	rna	39.02	50	32	DEL	0.000	-
DCAF8	50717	genome.wustl.edu	37	1	160209917	160209917	+	Missense_Mutation	SNP	C	C	T	rs368652723		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:160209917C>T	ENST00000368073.3	-	4	727	c.293G>A	c.(292-294)cGc>cAc	p.R98H	DCAF8_ENST00000368074.1_Missense_Mutation_p.R98H|DCAF8_ENST00000326837.2_Missense_Mutation_p.R98H|DCAF8_ENST00000610139.1_Missense_Mutation_p.R98H|DCAF8_ENST00000475733.1_Missense_Mutation_p.R98H|DCAF8_ENST00000608310.1_Missense_Mutation_p.R252H|DCAF8_ENST00000556710.1_Missense_Mutation_p.R252H			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	98					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						ttcctctGAGCGGTCATGGAC	0.532																																																	0													66.0	55.0	59.0					1																	160209917		2203	4300	6503	SO:0001583	missense	0			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.293G>A	1.37:g.160209917C>T	ENSP00000357052:p.Arg98His		D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R252H	ENST00000368073.3	37	c.755	CCDS1200.1	1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.386697	0.42308	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000440682;ENST00000407642;ENST00000556710	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.14;-0.14	4.89	0.631	0.17699	WD40/YVTN repeat-like-containing domain (1);	0.510139	0.15868	N	0.240655	T	0.12860	0.0312	N	0.02011	-0.69	0.28770	N	0.900439	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.06405	0.0;0.002;0.0	T	0.26538	-1.0100	10	0.21014	T	0.42	-8.0E-4	4.6208	0.12449	0.0:0.4869:0.1542:0.3589	.	252;98;98	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	H	98;98;98;252;79;98;98;98;252	ENSP00000357052:R98H;ENSP00000318227:R98H;ENSP00000357053:R98H;ENSP00000451989:R252H;ENSP00000451235:R252H	ENSP00000318227:R98H	R	-	2	0	RP11-574F21.3;DCAF8	158476541	0.393000	0.25237	0.999000	0.59377	0.945000	0.59286	-0.459000	0.06728	0.129000	0.18514	-0.266000	0.10368	CGC	DCAF8	-	NULL	ENSG00000132716		0.532	DCAF8-001	KNOWN	basic|CCDS	protein_coding	DCAF8	HGNC	protein_coding	OTTHUMT00000077402.2	-	0.00	59	0	C	NM_015726		160209917	-1	tier1	-	no_errors	ENST00000608310	ensembl	human	known	74_37	missense	32.69	35	17	SNP	0.997	T
DCAKD	79877	genome.wustl.edu	37	17	43107517	43107518	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:43107517_43107518insG	ENST00000452796.2	-	3	601_602	c.346_347insC	c.(346-348)ctgfs	p.L116fs	DCAKD_ENST00000588499.1_Frame_Shift_Ins_p.L116fs|DCAKD_ENST00000342350.5_Frame_Shift_Ins_p.L116fs			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	116	DPCK.				coenzyme A biosynthetic process (GO:0015937)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				CTCAAACAGCAGGGGGATATCC	0.53																																																	0																																										SO:0001589	frameshift_variant	0			BC006546	CCDS11493.1	17q21.31	2005-12-20				ENSG00000172992			26238	protein-coding gene	gene with protein product							Standard	XM_005257688		Approved	FLJ22955	uc010daa.1	Q8WVC6		ENST00000452796.2:c.347dupC	17.37:g.43107522_43107522dupG	ENSP00000413483:p.Leu116fs		A8K3Z0|D3DX60|D3DX62|Q9BR71|Q9H5W1	Frame_Shift_Ins	INS	pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase	p.L116fs	ENST00000452796.2	37	c.347_346	CCDS11493.1	17																																																																																			DCAKD	-	pfam_Depp_CoAkinase,superfamily_P-loop_NTPase,tigrfam_Depp_CoAkinase	ENSG00000172992		0.530	DCAKD-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DCAKD	HGNC	protein_coding	OTTHUMT00000449066.1		0.00	124	0	-	NM_024819		43107518	-1	tier1		no_errors	ENST00000342350	ensembl	human	known	74_37	frame_shift_ins	34.35	86	45	INS	1.000:1.000	G
DCLK2	166614	genome.wustl.edu	37	4	151177234	151177234	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:151177234G>C	ENST00000296550.7	+	16	2890	c.2136G>C	c.(2134-2136)agG>agC	p.R712S	DCLK2_ENST00000506325.1_Missense_Mutation_p.R711S|DCLK2_ENST00000302176.8_Missense_Mutation_p.R729S	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	712					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACAGCGGCAGGCCTGGGATGG	0.607																																					GBM(195;186 2215 13375 16801 37459)												0													48.0	42.0	44.0					4																	151177234		2203	4300	6503	SO:0001583	missense	0			BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.2136G>C	4.37:g.151177234G>C	ENSP00000296550:p.Arg712Ser		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom	p.R729S	ENST00000296550.7	37	c.2187	CCDS34076.1	4	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664021	0.29604	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.67865	-0.28;-0.29;-0.28	4.51	-3.28	0.05033	Protein kinase-like domain (1);	38.283800	0.00166	U	0.000003	T	0.56906	0.2017	L	0.47716	1.5	0.23391	N	0.997777	B;B;B	0.23442	0.004;0.005;0.085	B;B;B	0.19666	0.005;0.004;0.026	T	0.34153	-0.9840	10	0.32370	T	0.25	.	6.5666	0.22515	0.5867:0.2194:0.1939:0.0	.	729;711;712	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	S	712;711;729	ENSP00000296550:R712S;ENSP00000427235:R711S;ENSP00000303887:R729S	ENSP00000296550:R712S	R	+	3	2	DCLK2	151396684	0.001000	0.12720	0.009000	0.14445	0.036000	0.12997	-0.165000	0.09968	-0.479000	0.06813	-0.378000	0.06908	AGG	DCLK2	-	superfamily_Kinase-like_dom	ENSG00000170390		0.607	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DCLK2	HGNC	protein_coding	OTTHUMT00000364952.1	-	0.00	54	0	G	NM_001040260		151177234	+1	tier1	-	no_errors	ENST00000302176	ensembl	human	known	74_37	missense	42.03	40	29	SNP	0.010	C
DCHS2	54798	genome.wustl.edu	37	4	155411314	155411314	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:155411314G>A	ENST00000339452.1	-	1	1554	c.1194C>T	c.(1192-1194)cgC>cgT	p.R398R	DCHS2_ENST00000456341.2_Silent_p.R391R|DCHS2_ENST00000443500.1_Silent_p.R398R	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1568	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			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)		CGATGGACACGCGCACCGTGG	0.662																																																	0													6.0	8.0	8.0					4																	155411314		671	1563	2234	SO:0001819	synonymous_variant	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		ENST00000339452.1:c.1194C>T	4.37:g.155411314G>A			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R398	ENST00000339452.1	37	c.1194	CCDS47150.1	4																																																																																			DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.662	DCHS2-002	KNOWN	basic|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365282.1	-	0.00	39	0	G	NM_001142552		155411314	-1	tier1	-	no_errors	ENST00000339452	ensembl	human	known	74_37	silent	41.38	17	12	SNP	0.961	A
DCLK3	85443	genome.wustl.edu	37	3	36756896	36756896	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:36756896G>T	ENST00000416516.2	-	5	2360	c.1870C>A	c.(1870-1872)Cga>Aga	p.R624R	DCLK3_ENST00000498047.1_5'Flank	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	624						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGCTTCTGTCGTTTCACTGTA	0.557																																																	0													87.0	88.0	87.0					3																	36756896		2058	4199	6257	SO:0001819	synonymous_variant	0			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1870C>A	3.37:g.36756896G>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R624	ENST00000416516.2	37	c.1870	CCDS43064.1	3																																																																																			DCLK3	-	superfamily_Kinase-like_dom	ENSG00000163673		0.557	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLK3	HGNC	protein_coding	OTTHUMT00000341727.1		0.00	54	0	G	XM_047355		36756896	-1			no_errors	ENST00000416516	ensembl	human	known	74_37	silent	6.67	42	3	SNP	0.002	T
DCLRE1C	64421	genome.wustl.edu	37	10	14951099	14951101	+	In_Frame_Del	DEL	CTT	CTT	-	rs373709012|rs115250914	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:14951099_14951101delCTT	ENST00000378278.2	-	14	1422_1424	c.1385_1387delAAG	c.(1384-1389)gaagta>gta	p.E462del	DCLRE1C_ENST00000378246.2_In_Frame_Del_p.E347del|DCLRE1C_ENST00000378258.1_In_Frame_Del_p.E342del|DCLRE1C_ENST00000378242.1_In_Frame_Del_p.E115del|DCLRE1C_ENST00000453695.2_In_Frame_Del_p.E342del|DCLRE1C_ENST00000396817.2_In_Frame_Del_p.E342del|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000357717.2_In_Frame_Del_p.E347del|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378254.1_In_Frame_Del_p.E342del|DCLRE1C_ENST00000378249.1_In_Frame_Del_p.E347del|DCLRE1C_ENST00000378255.1_In_Frame_Del_p.E342del			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	462					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.E462delE(1)|p.E347delE(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGGATTCCTACTTCTTCTTCACT	0.458								Non-homologous end-joining						3	0.000599042	0.0	0.0	5008	,	,		21380	0.002		0.0	False		,,,				2504	0.001																2	Deletion - In frame(2)	large_intestine(2)																																								SO:0001651	inframe_deletion	0			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1385_1387delAAG	10.37:g.14951105_14951107delCTT	ENSP00000367527:p.Glu462del		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	In_Frame_Del	DEL	pfam_DRMBL	p.E462in_frame_del	ENST00000378278.2	37	c.1387_1385	CCDS31149.1	10																																																																																			DCLRE1C	-	NULL	ENSG00000152457		0.458	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1		0.00	56	0	CTT	NM_022487		14951101	-1	tier1		no_errors	ENST00000378278	ensembl	human	known	74_37	in_frame_del	28.57	30	12	DEL	0.001:0.990:1.000	-
DCP1A	55802	genome.wustl.edu	37	3	53381515	53381517	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:53381515_53381517delCTC	ENST00000607628.1	-	1	137_139	c.28_30delGAG	c.(28-30)gagdel	p.E10del	DCP1A_ENST00000606822.1_In_Frame_Del_p.E10del|DCP1A_ENST00000294241.6_In_Frame_Del_p.E10del|DCP1A_ENST00000480258.1_5'UTR	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	10					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		CTAGGCTCATCTCCTGCCCAGCT	0.616																																																	0																																										SO:0001651	inframe_deletion	0			AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000607628.1:c.28_30delGAG	3.37:g.53381515_53381517delCTC	ENSP00000475920:p.Glu10del		B4DHN9|U3KQM8	In_Frame_Del	DEL	pfam_DCP1	p.E10in_frame_del	ENST00000607628.1	37	c.30_28		3																																																																																			DCP1A	-	pfam_DCP1	ENSG00000162290		0.616	DCP1A-203	KNOWN	basic|appris_candidate_longest	protein_coding	DCP1A	HGNC	protein_coding			0.00	34	0	CTC	NM_018403		53381517	-1	tier1		no_errors	ENST00000607628	ensembl	human	known	74_37	in_frame_del	23.40	36	11	DEL	1.000:1.000:1.000	-
DCSTAMP	81501	genome.wustl.edu	37	8	105367351	105367351	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:105367351delA	ENST00000297581.2	+	3	1325	c.1276delA	c.(1276-1278)aaafs	p.K427fs	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	427					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											AAAGCTGCTTAAAAAAAGATC	0.458																																																	0													78.0	80.0	79.0					8																	105367351		2203	4300	6503	SO:0001589	frameshift_variant	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1276delA	8.37:g.105367351delA	ENSP00000297581:p.Lys427fs		B7ZVW2|E7ESG0|Q2M2D5	Frame_Shift_Del	DEL	pfam_DC_STAMP-like,superfamily_ABC1_TM_dom	p.R428fs	ENST00000297581.2	37	c.1276	CCDS6301.1	8																																																																																			DCSTAMP	-	superfamily_ABC1_TM_dom	ENSG00000164935		0.458	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCSTAMP	HGNC	protein_coding	OTTHUMT00000380810.1		0.00	27	0	A	NM_030788		105367351	+1	tier1		no_errors	ENST00000297581	ensembl	human	known	74_37	frame_shift_del	27.27	16	6	DEL	0.229	-
DCTN6	10671	genome.wustl.edu	37	8	30036928	30036928	+	Silent	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:30036928C>A	ENST00000221114.3	+	5	375	c.288C>A	c.(286-288)tcC>tcA	p.S96S	RP11-51J9.4_ENST00000523733.1_RNA|DCTN6_ENST00000520829.1_Silent_p.S96S	NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	96					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|kinetochore (GO:0000776)				endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		TTACAGATTCCCAAGCCATGA	0.398																																																	0													127.0	120.0	122.0					8																	30036928		2203	4300	6503	SO:0001819	synonymous_variant	0			D84145	CCDS6076.1	8p12-p11	2003-03-20			ENSG00000104671	ENSG00000104671			16964	protein-coding gene	gene with protein product		612963				9168138	Standard	NM_006571		Approved	WS-3	uc003xhy.3	O00399	OTTHUMG00000163828	ENST00000221114.3:c.288C>A	8.37:g.30036928C>A			B2RAC1	Missense_Mutation	SNP	superfamily_Trimer_LpxA-like	p.P67T	ENST00000221114.3	37	c.199	CCDS6076.1	8																																																																																			DCTN6	-	NULL	ENSG00000104671		0.398	DCTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTN6	HGNC	protein_coding	OTTHUMT00000375815.2	-	0.00	74	0	C	NM_006571		30036928	+1	tier1	-	no_errors	ENST00000523666	ensembl	human	known	74_37	missense	21.70	81	23	SNP	0.999	A
DCUN1D5	84259	genome.wustl.edu	37	11	102935036	102935036	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:102935036G>A	ENST00000260247.5	-	7	968	c.626C>T	c.(625-627)gCt>gTt	p.A209V	DCUN1D5_ENST00000531543.1_Missense_Mutation_p.A124V	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	209	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		ACTAAGATCAGCATGGACTGT	0.284																																																	0													133.0	127.0	129.0					11																	102935036		2202	4293	6495	SO:0001583	missense	0				CCDS8325.1	11q22.3	2013-06-10	2013-06-10		ENSG00000137692	ENSG00000137692			28409	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae)"""			15988528	Standard	NM_032299		Approved	MGC2714, FLJ32431	uc001phm.3	Q9BTE7	OTTHUMG00000165822	ENST00000260247.5:c.626C>T	11.37:g.102935036G>A	ENSP00000260247:p.Ala209Val		Q3ZTT2	Missense_Mutation	SNP	pfam_PONY_dom	p.A209V	ENST00000260247.5	37	c.626	CCDS8325.1	11	.	.	.	.	.	.	.	.	.	.	G	14.91	2.674985	0.47781	.	.	ENSG00000137692	ENST00000260247;ENST00000531543	.	.	.	5.91	5.91	0.95273	Domain of unknown function DUF298 (2);	0.053597	0.85682	D	0.000000	T	0.54615	0.1869	L	0.27053	0.805	0.58432	D	0.999998	B	0.15141	0.012	B	0.23018	0.043	T	0.44019	-0.9355	9	0.35671	T	0.21	-11.0668	20.3052	0.98627	0.0:0.0:1.0:0.0	.	209	Q9BTE7	DCNL5_HUMAN	V	209;124	.	ENSP00000260247:A209V	A	-	2	0	DCUN1D5	102440246	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.640000	0.67875	2.814000	0.96858	0.650000	0.86243	GCT	DCUN1D5	-	pfam_PONY_dom	ENSG00000137692		0.284	DCUN1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D5	HGNC	protein_coding	OTTHUMT00000386382.2	-	0.00	23	0	G	NM_032299		102935036	-1	tier1	-	no_errors	ENST00000260247	ensembl	human	known	74_37	missense	35.48	20	11	SNP	1.000	A
DDAH1	23576	genome.wustl.edu	37	1	85787205	85787205	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:85787205G>T	ENST00000284031.8	-	6	882	c.788C>A	c.(787-789)tCt>tAt	p.S263Y	DDAH1_ENST00000542148.1_Missense_Mutation_p.S163Y|RP11-131L23.1_ENST00000427819.1_RNA|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000426972.3_Missense_Mutation_p.S170Y|DDAH1_ENST00000539042.1_Missense_Mutation_p.S263Y|DDAH1_ENST00000535924.2_Missense_Mutation_p.S160Y	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	263					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TTCCAGTTCAGACATGCTCAC	0.473																																																	0													109.0	98.0	101.0					1																	85787205		2203	4300	6503	SO:0001583	missense	0			AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.788C>A	1.37:g.85787205G>T	ENSP00000284031:p.Ser263Tyr		Q5HYC8|Q86XK5	Missense_Mutation	SNP	pfam_Amidino_trans	p.S263Y	ENST00000284031.8	37	c.788	CCDS705.1	1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754881	0.49362	.	.	ENSG00000153904	ENST00000284031;ENST00000539042;ENST00000535924;ENST00000426972;ENST00000542148	.	.	.	5.72	5.72	0.89469	.	0.268590	0.41194	D	0.000924	T	0.63698	0.2533	M	0.73319	2.225	0.41728	D	0.989549	P;P	0.46952	0.887;0.887	B;P	0.46076	0.302;0.503	T	0.69453	-0.5141	9	0.87932	D	0	-11.1937	20.2504	0.98404	0.0:0.0:1.0:0.0	.	163;263	B4DYP1;O94760	.;DDAH1_HUMAN	Y	263;263;160;170;163	.	ENSP00000284031:S263Y	S	-	2	0	DDAH1	85559793	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	3.205000	0.51090	2.850000	0.98022	0.650000	0.86243	TCT	DDAH1	-	pfam_Amidino_trans	ENSG00000153904		0.473	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDAH1	HGNC	protein_coding	OTTHUMT00000029189.1	-	0.00	78	0	G			85787205	-1	tier1	-	no_errors	ENST00000284031	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
DDC	1644	genome.wustl.edu	37	7	50544324	50544324	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:50544324G>A	ENST00000444124.2	-	11	1239	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	DDC_ENST00000431062.1_Missense_Mutation_p.R254W|DDC_ENST00000357936.5_Missense_Mutation_p.R347W|DDC_ENST00000426377.1_Missense_Mutation_p.R269W	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	347			R -> Q (in AADCD). {ECO:0000269|PubMed:15079002}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CCACTTACCCGGTAGTCAGTG	0.463																																																	0													67.0	64.0	65.0					7																	50544324		2203	4300	6503	SO:0001583	missense	0				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1039C>T	7.37:g.50544324G>A	ENSP00000403644:p.Arg347Trp		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC	p.R347W	ENST00000444124.2	37	c.1039	CCDS5511.1	7	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217711	0.58560	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.4	2.89	0.33648	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	11.424500	0.01762	N	0.030602	T	0.72293	0.3442	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.98	T	0.53760	-0.8393	10	0.87932	D	0	-1.4989	10.8826	0.46948	0.0:0.0:0.3102:0.6898	.	347;347	Q53Y41;P20711	.;DDC_HUMAN	W	347;254;269;347	ENSP00000350616:R347W;ENSP00000399184:R254W;ENSP00000395069:R269W;ENSP00000403644:R347W	ENSP00000350616:R347W	R	-	1	2	DDC	50511818	0.998000	0.40836	1.000000	0.80357	0.484000	0.33280	1.401000	0.34589	0.985000	0.38656	-0.271000	0.10264	CGG	DDC	-	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase	ENSG00000132437		0.463	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DDC	HGNC	protein_coding	OTTHUMT00000342593.1		0.00	11	0	G			50544324	-1			no_errors	ENST00000357936	ensembl	human	known	74_37	missense	75.00	1	3	SNP	1.000	A
DDHD1	80821	genome.wustl.edu	37	14	53570518	53570518	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:53570518G>T	ENST00000323669.5	-	2	894	c.895C>A	c.(895-897)Cct>Act	p.P299T	DDHD1_ENST00000395606.1_Missense_Mutation_p.P299T|DDHD1_ENST00000357758.3_Missense_Mutation_p.P299T	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	299					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCTTCTAGAGGCTGCCAAGTG	0.368																																																	0													75.0	69.0	71.0					14																	53570518		2203	4300	6503	SO:0001583	missense	0			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.895C>A	14.37:g.53570518G>T	ENSP00000327104:p.Pro299Thr		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	pfam_DDHD,pfscan_DDHD	p.P299T	ENST00000323669.5	37	c.895	CCDS53895.1	14	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678332	0.88542	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610;ENST00000556910	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.996;0.972;0.998	D	0.85719	0.1324	9	0.66056	D	0.02	-12.6446	19.2282	0.93825	0.0:0.0:1.0:0.0	.	299;299;299	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	T	299;299;299;170;13	.	ENSP00000327104:P299T	P	-	1	0	DDHD1	52640268	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.386000	0.97228	2.621000	0.88768	0.591000	0.81541	CCT	DDHD1	-	NULL	ENSG00000100523		0.368	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	HGNC	protein_coding	OTTHUMT00000276901.1	-	0.00	49	0	G			53570518	-1	tier1	-	no_errors	ENST00000323669	ensembl	human	known	74_37	missense	5.97	63	4	SNP	1.000	T
DDR2	4921	genome.wustl.edu	37	1	162748376	162748376	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:162748376T>C	ENST00000367922.3	+	18	2728	c.2290T>C	c.(2290-2292)Ttc>Ctc	p.F764L	RN7SL861P_ENST00000473793.2_RNA|DDR2_ENST00000367921.3_Missense_Mutation_p.F764L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	764	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	ATAGGGCAAGTTCACTACAGC	0.438																																					NSCLC(161;314 2006 8283 19651 23192)												0													178.0	177.0	178.0					1																	162748376		2203	4300	6503	SO:0001583	missense	0			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2290T>C	1.37:g.162748376T>C	ENSP00000356899:p.Phe764Leu		Q7Z730	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F764L	ENST00000367922.3	37	c.2290	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.672811	0.88445	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.88896	-2.44;-2.44	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92958	0.7759	M	0.81239	2.535	0.40839	D	0.983654	P	0.45827	0.867	D	0.63381	0.914	D	0.94098	0.7359	9	0.72032	D	0.01	.	14.4175	0.67160	0.0:0.0:0.0:1.0	.	764	Q16832	DDR2_HUMAN	L	764	ENSP00000356899:F764L;ENSP00000356898:F764L	ENSP00000356898:F764L	F	+	1	0	DDR2	161015000	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.926000	0.87569	2.080000	0.62538	0.533000	0.62120	TTC	DDR2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000162733		0.438	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	-	0.00	98	0	T	NM_006182		162748376	+1	tier1	-	no_errors	ENST00000367921	ensembl	human	known	74_37	missense	21.88	99	28	SNP	1.000	C
DDX19A	55308	genome.wustl.edu	37	16	70405395	70405395	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:70405395G>T	ENST00000302243.7	+	11	1467	c.1304G>T	c.(1303-1305)aGg>aTg	p.R435M	DDX19A_ENST00000417604.2_Missense_Mutation_p.R404M|DDX19A_ENST00000443119.2_Missense_Mutation_p.R345M	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	435	C-terminal lobe. {ECO:0000250}.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				TTTGGCAAGAGGGGCCTGGCA	0.572																																																	0													13.0	13.0	13.0					16																	70405395		2148	4231	6379	SO:0001583	missense	0			AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"""DEAD-boxes"""	25628	protein-coding gene	gene with protein product			"""DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"""	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.1304G>T	16.37:g.70405395G>T	ENSP00000306117:p.Arg435Met		B2RPL0|B4DRZ7|Q53FM0	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R435M	ENST00000302243.7	37	c.1304	CCDS10889.1	16	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435610	0.83885	.	.	ENSG00000168872	ENST00000302243;ENST00000302227;ENST00000417604;ENST00000443119	T;T;T	0.03468	3.99;3.92;3.92	4.9	4.9	0.64082	Helicase, C-terminal (1);	0.120527	0.64402	D	0.000009	T	0.13286	0.0322	L	0.45581	1.43	0.80722	D	1	D;D;D;D;P	0.76494	0.998;0.958;0.999;0.999;0.945	P;P;P;D;B	0.75484	0.786;0.719;0.866;0.986;0.443	T	0.00601	-1.1650	10	0.87932	D	0	-15.7875	15.58	0.76425	0.0:0.0:1.0:0.0	.	345;404;270;435;436	B4DRZ7;B4DS24;Q59FQ9;Q9NUU7;Q7Z4W5	.;.;.;DD19A_HUMAN;.	M	435;327;404;345	ENSP00000306117:R435M;ENSP00000410243:R404M;ENSP00000399208:R345M	ENSP00000306209:R327M	R	+	2	0	DDX19A	68962896	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.141000	0.71744	2.257000	0.74773	0.491000	0.48974	AGG	DDX19A	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000168872		0.572	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX19A	HGNC	protein_coding	OTTHUMT00000268967.2	-	0.00	32	0	G	NM_018332		70405395	+1	tier1	-	no_errors	ENST00000302243	ensembl	human	known	74_37	missense	51.72	14	15	SNP	1.000	T
DDX23	9416	genome.wustl.edu	37	12	49230537	49230537	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:49230537G>T	ENST00000308025.3	-	10	1130	c.1051C>A	c.(1051-1053)Cgc>Agc	p.R351S	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	351					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCATCCCAGCGCTGCTTGGCT	0.527																																																	0													178.0	172.0	174.0					12																	49230537		2203	4300	6503	SO:0001583	missense	0			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1051C>A	12.37:g.49230537G>T	ENSP00000310723:p.Arg351Ser		B2R600|B4DH15|O43188	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R351S	ENST00000308025.3	37	c.1051	CCDS8770.1	12	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917069	0.52546	.	.	ENSG00000174243	ENST00000308025	T	0.19250	2.16	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.14013	0.0339	N	0.22421	0.69	0.80722	D	1	B	0.30114	0.269	B	0.19148	0.024	T	0.08576	-1.0715	10	0.08599	T	0.76	-3.1977	18.8567	0.92255	0.0:0.0:1.0:0.0	.	351	Q9BUQ8	DDX23_HUMAN	S	351	ENSP00000310723:R351S	ENSP00000310723:R351S	R	-	1	0	DDX23	47516804	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.611000	0.98342	2.756000	0.94617	0.561000	0.74099	CGC	DDX23	-	NULL	ENSG00000174243		0.527	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	HGNC	protein_coding	OTTHUMT00000408897.2		0.00	45	0	G	NM_004818		49230537	-1			no_errors	ENST00000308025	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	T
DDX3X	1654	genome.wustl.edu	37	X	41192965	41192965	+	5'UTR	SNP	A	A	G	rs371384625		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:41192965A>G	ENST00000399959.2	+	0	315				DDX3X_ENST00000441189.2_5'Flank|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_5'Flank|DDX3X_ENST00000457138.2_5'Flank	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked						ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CAGTGTTAGGaaaaaaaaaac	0.498										HNSCC(61;0.18)			A|||	14	0.00370861	0.0	0.0	3775	,	,		13681	0.0		0.002	False		,,,				2504	0.0123																0																																										SO:0001623	5_prime_UTR_variant	0			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.-541A>G	X.37:g.41192965A>G			A8K538|B4E3E8|O15536	RNA	SNP	-	NULL	ENST00000399959.2	37	NULL	CCDS43931.1	X																																																																																			DDX3X	-	-	ENSG00000215301		0.498	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	-	0.00	11	0	A	NM_024005		41192965	+1	tier1	-	no_errors	ENST00000478993	ensembl	human	known	74_37	rna	62.50	3	5	SNP	0.001	G
DDX3X	1654	genome.wustl.edu	37	X	41201775	41201775	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:41201775C>T	ENST00000399959.2	+	5	1167	c.312C>T	c.(310-312)taC>taT	p.Y104Y	DDX3X_ENST00000441189.2_Silent_p.Y104Y|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_Silent_p.Y148Y|DDX3X_ENST00000457138.2_Silent_p.Y88Y	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	104	Interaction with GSK3B.|Required for TBK1 and IKBKE-dependent IFN-beta activation.|Required for interaction with IKBKE.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.Y104Y(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GGAGTGATTACGATGGCATTG	0.423										HNSCC(61;0.18)			C|||	2	0.000529801	0.0	0.0	3775	,	,		15431	0.0		0.0	False		,,,				2504	0.002																1	Substitution - coding silent(1)	large_intestine(1)											103.0	104.0	103.0					X																	41201775		2192	4291	6483	SO:0001819	synonymous_variant	0			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.312C>T	X.37:g.41201775C>T			A8K538|B4E3E8|O15536	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Y104	ENST00000399959.2	37	c.312	CCDS43931.1	X																																																																																			DDX3X	-	NULL	ENSG00000215301		0.423	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	-	0.00	48	0	C	NM_024005		41201775	+1	tier1	-	no_errors	ENST00000399959	ensembl	human	known	74_37	silent	75.51	12	37	SNP	1.000	T
DDX3Y	8653	genome.wustl.edu	37	Y	15026659	15026661	+	Intron	DEL	TTT	TTT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrY:15026659_15026661delTTT	ENST00000336079.3	+	8	865				DDX3Y_ENST00000360160.4_Intron|DDX3Y_ENST00000463199.1_Intron	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked							cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						CTTATTTTCATTTTTTTTTTTTT	0.281																																																	0																																										SO:0001627	intron_variant	0			AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"""DEAD-boxes"""	2699	protein-coding gene	gene with protein product		400010	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"""	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.759+98TTT>-	Y.37:g.15026668_15026670delTTT			B4DK29|B4DXX7|Q8IYV7	RNA	DEL	-	NULL	ENST00000336079.3	37	NULL	CCDS14782.1	Y																																																																																			DDX3Y	-	-	ENSG00000067048		0.281	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3Y	HGNC	protein_coding	OTTHUMT00000088407.1		0.00	21	0	TTT	NM_004660		15026661	+1	tier1		no_errors	ENST00000472510	ensembl	human	putative	74_37	rna	53.85	6	7	DEL	0.001:0.000:0.000	-
DDX5	1655	genome.wustl.edu	37	17	62496720	62496720	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:62496720G>T	ENST00000225792.5	-	12	1789	c.1388C>A	c.(1387-1389)gCt>gAt	p.A463D	DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000578804.1_Missense_Mutation_p.A463D|DDX5_ENST00000450599.2_Missense_Mutation_p.A384D|MIR5047_ENST00000579212.1_RNA|MIR3064_ENST00000581130.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	463	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TGCTTGATTAGCTTCACGAAG	0.428			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)			Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													134.0	117.0	123.0					17																	62496720		2203	4300	6503	SO:0001583	missense	0			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1388C>A	17.37:g.62496720G>T	ENSP00000225792:p.Ala463Asp		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.A463D	ENST00000225792.5	37	c.1388	CCDS11659.1	17	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687106	0.29962	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	5.73	5.73	0.89815	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84379	0.5459	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.993;0.997	D	0.85443	0.1156	9	0.87932	D	0	-12.2058	20.2602	0.98440	0.0:0.0:1.0:0.0	.	384;463;463	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	D	463;393;452	.	ENSP00000225792:A452D	A	-	2	0	DDX5	59927182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.096000	0.94182	2.861000	0.98227	0.655000	0.94253	GCT	DDX5	-	pfscan_Helicase_C	ENSG00000108654		0.428	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	HGNC	protein_coding	OTTHUMT00000444030.1	-	0.00	67	0	G	NM_004396		62496720	-1	tier1	-	no_errors	ENST00000225792	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T
DEDD	9191	genome.wustl.edu	37	1	161091815	161091818	+	3'UTR	DEL	AAAA	AAAA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:161091815_161091818delAAAA	ENST00000368006.3	-	0	1290_1293				DEDD_ENST00000368005.1_3'UTR|DEDD_ENST00000458050.2_3'UTR|DEDD_ENST00000489249.1_5'UTR|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000490843.2_3'UTR|DEDD_ENST00000545495.1_3'UTR|DEDD_ENST00000392188.1_3'UTR	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing						decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTTTTTCTTTAAAAAAAAAAAAAA	0.466																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.*122TTTT>-	1.37:g.161091823_161091826delAAAA			D3DVF5|O60737	RNA	DEL	-	NULL	ENST00000368006.3	37	NULL	CCDS1219.1	1																																																																																			DEDD	-	-	ENSG00000158796		0.466	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEDD	HGNC	protein_coding	OTTHUMT00000080582.1		0.00	11	0	AAAA	NM_004216		161091818	-1	tier1		no_errors	ENST00000486041	ensembl	human	known	74_37	rna	30.00	14	6	DEL	1.000:1.000:1.000:1.000	-
DEDD	9191	genome.wustl.edu	37	1	161092920	161092920	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:161092920G>T	ENST00000368006.3	-	5	739	c.525C>A	c.(523-525)agC>agA	p.S175R	DEDD_ENST00000368005.1_Missense_Mutation_p.S175R|DEDD_ENST00000458050.2_Missense_Mutation_p.S175R|DEDD_ENST00000489249.1_5'UTR|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000490843.2_Missense_Mutation_p.S175R|DEDD_ENST00000545495.1_Missense_Mutation_p.S175R|DEDD_ENST00000392188.1_Missense_Mutation_p.S175R	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	175					decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GTTTTCGCTGGCTCCCAAGTG	0.577																																																	0													127.0	117.0	121.0					1																	161092920		2203	4300	6503	SO:0001583	missense	0			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.525C>A	1.37:g.161092920G>T	ENSP00000356985:p.Ser175Arg		D3DVF5|O60737	Missense_Mutation	SNP	pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED	p.S175R	ENST00000368006.3	37	c.525	CCDS1219.1	1	.	.	.	.	.	.	.	.	.	.	G	7.649	0.682483	0.14907	.	.	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005;ENST00000535389	.	.	.	4.36	0.358	0.16084	.	0.241030	0.51477	D	0.000093	T	0.18509	0.0444	L	0.40543	1.245	0.46564	D	0.999106	B;P;B	0.35656	0.144;0.514;0.089	B;B;B	0.26969	0.056;0.075;0.015	T	0.03619	-1.1019	9	0.36615	T	0.2	.	8.1251	0.30995	0.3721:0.0:0.6279:0.0	.	132;175;175	B4DKM1;B1AQP5;O75618	.;.;DEDD_HUMAN	R	175;175;175;175;175;175;132	.	ENSP00000356984:S175R	S	-	3	2	DEDD	159359544	1.000000	0.71417	0.956000	0.39512	0.601000	0.36947	0.600000	0.24104	0.210000	0.20664	0.655000	0.94253	AGC	DEDD	-	NULL	ENSG00000158796		0.577	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEDD	HGNC	protein_coding	OTTHUMT00000080582.1	-	0.00	52	0	G	NM_004216		161092920	-1	tier1	-	no_errors	ENST00000368005	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.987	T
DDX59	83479	genome.wustl.edu	37	1	200619669	200619669	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:200619669G>A	ENST00000331314.6	-	5	1411	c.1198C>T	c.(1198-1200)Cat>Tat	p.H400Y	DDX59_ENST00000447706.2_Missense_Mutation_p.H400Y|DDX59_ENST00000367348.3_Missense_Mutation_p.H400Y	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	400	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACAGGATTATGCAGAAGCTGG	0.393																																																	0													94.0	88.0	90.0					1																	200619669		2203	4300	6503	SO:0001583	missense	0			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1198C>T	1.37:g.200619669G>A	ENSP00000330460:p.His400Tyr		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.H400Y	ENST00000331314.6	37	c.1198	CCDS30964.1	1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382570	0.61845	.	.	ENSG00000118197	ENST00000447706;ENST00000413408;ENST00000367348;ENST00000331314;ENST00000433235;ENST00000453944	D;T;D;D;T;T	0.92199	-2.99;3.57;-2.99;-2.99;3.57;0.98	5.75	5.75	0.90469	DEAD-like helicase (2);	0.477402	0.25302	N	0.031644	D	0.88198	0.6372	L	0.37697	1.125	0.53688	D	0.999976	P;B	0.36789	0.57;0.091	B;B	0.33750	0.169;0.11	D	0.85739	0.1336	10	0.21540	T	0.41	-5.3361	19.9402	0.97155	0.0:0.0:1.0:0.0	.	400;400	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	Y	400;38;400;400;43;43	ENSP00000394367:H400Y;ENSP00000394304:H38Y;ENSP00000356317:H400Y;ENSP00000330460:H400Y;ENSP00000409954:H43Y;ENSP00000398152:H43Y	ENSP00000330460:H400Y	H	-	1	0	DDX59	198886292	1.000000	0.71417	0.979000	0.43373	0.973000	0.67179	6.707000	0.74654	2.720000	0.93068	0.573000	0.79308	CAT	DDX59	-	superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000118197		0.393	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX59	HGNC	protein_coding	OTTHUMT00000086883.2	-	0.00	63	0	G	NM_001031725.4		200619669	-1	tier1	-	no_errors	ENST00000331314	ensembl	human	known	74_37	missense	31.03	59	27	SNP	1.000	A
DEDD2	162989	genome.wustl.edu	37	19	42713965	42713965	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:42713965C>T	ENST00000595337.1	-	4	563	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000598727.1_Missense_Mutation_p.R159Q|DEDD2_ENST00000336034.4_Missense_Mutation_p.R154Q|DEDD2_ENST00000596251.1_Missense_Mutation_p.R159Q	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	159					apoptotic nuclear changes (GO:0030262)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|RNA processing (GO:0006396)|rRNA catabolic process (GO:0016075)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				GCCCCGACTCCGCCGCTGCCG	0.667																																																	0													16.0	20.0	19.0					19																	42713965		2022	4038	6060	SO:0001583	missense	0			AY125488	CCDS12597.1, CCDS59391.1	19q13.31	2008-02-05				ENSG00000160570			24450	protein-coding gene	gene with protein product						11965497, 12235123	Standard	NM_133328		Approved	FLAME-3	uc031rkv.1	Q8WXF8		ENST00000595337.1:c.476G>A	19.37:g.42713965C>T	ENSP00000470082:p.Arg159Gln		Q8NBR2|Q8NES1|Q8TAA8|Q96D35	Missense_Mutation	SNP	pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED	p.R159Q	ENST00000595337.1	37	c.476	CCDS12597.1	19	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009987	0.35415	.	.	ENSG00000160570	ENST00000336034	.	.	.	3.81	3.81	0.43845	.	0.057854	0.64402	D	0.000004	T	0.20780	0.0500	N	0.08118	0	0.30726	N	0.747695	D;D	0.56746	0.977;0.961	P;B	0.45753	0.492;0.297	T	0.04752	-1.0929	9	0.44086	T	0.13	-22.9001	8.9565	0.35820	0.2214:0.7786:0.0:0.0	.	154;159	Q8WXF8-2;Q8WXF8	.;DEDD2_HUMAN	Q	159	.	ENSP00000336972:R159Q	R	-	2	0	DEDD2	47405805	0.931000	0.31567	1.000000	0.80357	0.902000	0.53008	1.545000	0.36169	2.426000	0.82243	0.467000	0.42956	CGG	DEDD2	-	NULL	ENSG00000160570		0.667	DEDD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DEDD2	HGNC	protein_coding	OTTHUMT00000463508.1	-	0.00	44	0	C	NM_133328		42713965	-1	tier1	-	no_errors	ENST00000595337	ensembl	human	known	74_37	missense	48.08	27	25	SNP	1.000	T
DEFB124	245937	genome.wustl.edu	37	20	30060721	30060722	+	Intron	DEL	CA	CA	-	rs376204645		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:30060721_30060722delCA	ENST00000317676.2	-	1	58				REM1_ENST00000201979.2_5'Flank|DEFB124_ENST00000481595.1_5'UTR	NM_001037500.1	NP_001032589.1	Q8NES8	DB124_HUMAN	defensin, beta 124						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)						Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			cacacatgtgcacacacacaca	0.52																																																	0																																										SO:0001627	intron_variant	0			DQ119827	CCDS33457.1	20q11.1	2008-07-17			ENSG00000180383	ENSG00000180383		"""Defensins, beta"""	18104	protein-coding gene	gene with protein product	"""defensin, beta 24"""					11854508, 16033865	Standard	NM_001037500		Approved	DEFB-24	uc002wvz.1	Q8NES8	OTTHUMG00000159287	ENST00000317676.2:c.58+36TG>-	20.37:g.30060731_30060732delCA			Q30E74	RNA	DEL	-	NULL	ENST00000317676.2	37	NULL	CCDS33457.1	20																																																																																			DEFB124	-	-	ENSG00000180383		0.520	DEFB124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB124	HGNC	protein_coding	OTTHUMT00000354416.1		0.00	15	0	CA	NM_001037500		30060722	-1	tier1		no_errors	ENST00000481595	ensembl	human	known	74_37	rna	33.33	8	4	DEL	0.435:0.465	-
DENND2C	163259	genome.wustl.edu	37	1	115127989	115127989	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:115127989delA	ENST00000393274.1	-	0	3644				DENND2C_ENST00000481894.1_5'Flank|DENND2C_ENST00000393276.3_3'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C						positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCTGCTATAAAAAAAAAAT	0.408																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.*232T>-	1.37:g.115127989delA			B1AL26|Q5TCX6|Q6P3R3	RNA	DEL	-	NULL	ENST00000393274.1	37	NULL	CCDS58018.1	1																																																																																			DENND2C	-	-	ENSG00000175984		0.408	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1		0.00	10	0	A	NM_198459		115127989	-1	tier1		no_errors	ENST00000495031	ensembl	human	known	74_37	rna	30.77	9	4	DEL	0.000	-
DENND4A	10260	genome.wustl.edu	37	15	66007940	66007940	+	Missense_Mutation	SNP	C	C	T	rs563702022		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:66007940C>T	ENST00000431932.2	-	14	2037	c.1829G>A	c.(1828-1830)cGg>cAg	p.R610Q	DENND4A_ENST00000443035.3_Missense_Mutation_p.R610Q	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	610	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTGATGTGACCGGTCCCGGCT	0.328													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17540	0.0		0.0	False		,,,				2504	0.0																0													46.0	40.0	42.0					15																	66007940		1799	4072	5871	SO:0001583	missense	0			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1829G>A	15.37:g.66007940C>T	ENSP00000396830:p.Arg610Gln		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.R610Q	ENST00000431932.2	37	c.1829	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.598716	0.96614	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.45276	0.9;0.9	5.23	5.23	0.72850	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.66752	0.2821	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.941;0.999;0.999	T	0.70550	-0.4841	10	0.72032	D	0.01	.	18.7833	0.91944	0.0:1.0:0.0:0.0	.	610;610;610	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	Q	610	ENSP00000391167:R610Q;ENSP00000396830:R610Q	ENSP00000396830:R610Q	R	-	2	0	DENND4A	63794994	1.000000	0.71417	0.978000	0.43139	0.979000	0.70002	7.814000	0.86154	2.416000	0.81992	0.591000	0.81541	CGG	DENND4A	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom	ENSG00000174485		0.328	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	-	0.00	42	0	C	NM_005848		66007940	-1	tier1	-	no_errors	ENST00000443035	ensembl	human	known	74_37	missense	44.90	27	22	SNP	1.000	T
DENND5B	160518	genome.wustl.edu	37	12	31586118	31586118	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:31586118G>T	ENST00000389082.5	-	8	2341	c.2077C>A	c.(2077-2079)Cat>Aat	p.H693N	DENND5B_ENST00000536562.1_Missense_Mutation_p.H728N|DENND5B_ENST00000354285.4_Missense_Mutation_p.H715N|DENND5B_ENST00000306833.6_Missense_Mutation_p.H728N	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	693					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGCCCAACATGCTCAGAATGC	0.502																																																	0													166.0	177.0	173.0					12																	31586118		2139	4250	6389	SO:0001583	missense	0			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2077C>A	12.37:g.31586118G>T	ENSP00000373734:p.His693Asn		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run	p.H728N	ENST00000389082.5	37	c.2182	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	G	13.85	2.359561	0.41801	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285	T;T;T;T	0.08546	3.75;3.86;3.86;3.08	4.37	4.37	0.52481	.	0.133751	0.49916	D	0.000126	T	0.14527	0.0351	M	0.62723	1.935	0.58432	D	0.999998	P;B;B	0.34629	0.46;0.048;0.069	B;B;B	0.39706	0.307;0.015;0.062	T	0.05321	-1.0892	10	0.33141	T	0.24	-12.5507	17.1258	0.86713	0.0:0.0:1.0:0.0	.	715;693;728	Q6ZUT9-4;Q6ZUT9;G3V1S3	.;DEN5B_HUMAN;.	N	693;728;728;715	ENSP00000373734:H693N;ENSP00000306482:H728N;ENSP00000444889:H728N;ENSP00000346238:H715N	ENSP00000306482:H728N	H	-	1	0	DENND5B	31477385	1.000000	0.71417	0.190000	0.23270	0.517000	0.34286	9.154000	0.94694	2.248000	0.74166	0.655000	0.94253	CAT	DENND5B	-	NULL	ENSG00000170456		0.502	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1		0.00	40	0	G	NM_144973		31586118	-1			no_errors	ENST00000306833	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
DENND6B	414918	genome.wustl.edu	37	22	50751527	50751528	+	Frame_Shift_Ins	INS	-	-	G	rs200103246	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:50751527_50751528insG	ENST00000413817.3	-	17	1428_1429	c.1357_1358insC	c.(1357-1359)cagfs	p.Q453fs	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	453					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GGGCTGGATCTGGGGGGGAGTC	0.639																																																	0																																										SO:0001589	frameshift_variant	0			AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1358dupC	22.37:g.50751534_50751534dupG	ENSP00000391524:p.Gln453fs		A6X8I5	Frame_Shift_Ins	INS	pfam_Afi1_N,pfam_DENN_dom,pfam_ABL9/DENND6_dom	p.Q453fs	ENST00000413817.3	37	c.1358_1357	CCDS46732.1	22																																																																																			DENND6B	-	pfam_Afi1_N	ENSG00000205593		0.639	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND6B	HGNC	protein_coding	OTTHUMT00000316845.3		0.00	54	0	-	NM_001001794		50751528	-1	tier1		no_errors	ENST00000413817	ensembl	human	known	74_37	frame_shift_ins	25.00	27	9	INS	1.000:1.000	G
DEPDC5	9681	genome.wustl.edu	37	22	32271244	32271244	+	3'UTR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:32271244C>T	ENST00000494060.1	+	0	565				DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000382112.3_Intron|DEPDC5_ENST00000400246.1_Intron|DEPDC5_ENST00000400248.2_Intron|DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000539165.1_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000382111.2_Intron			O75140	DEPD5_HUMAN	DEP domain containing 5						intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCTGAGAATACGATTTCCTta	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000494060.1:c.*562C>T	22.37:g.32271244C>T			A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	RNA	SNP	-	NULL	ENST00000494060.1	37	NULL		22																																																																																			DEPDC5	-	-	ENSG00000100150		0.393	DEPDC5-019	KNOWN	not_organism_supported|basic	processed_transcript	DEPDC5	HGNC	protein_coding	OTTHUMT00000315735.7	-	0.00	43	0	C	NM_014662		32271244	+1	tier1	-	no_errors	ENST00000494060	ensembl	human	known	74_37	rna	39.29	17	11	SNP	0.000	T
DFFB	1677	genome.wustl.edu	37	1	3782236	3782236	+	Intron	SNP	C	C	A	rs370413325	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:3782236C>A	ENST00000378209.3	+	3	564				DFFB_ENST00000338895.3_Intron|DFFB_ENST00000378212.2_Silent_p.R91R	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)						apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GACAAAGACCCGGGACACCTC	0.602																																																	0													22.0	20.0	21.0					1																	3782236		876	1990	2866	SO:0001627	intron_variant	0				CCDS52.1, CCDS72693.1	1p36.3	2014-03-06	2002-08-29		ENSG00000169598	ENSG00000169598			2773	protein-coding gene	gene with protein product		601883				9108473, 9560346	Standard	NM_004402		Approved	CAD, CPAN, DFF-40, DFF40	uc001alc.3	O76075	OTTHUMG00000003525	ENST00000378209.3:c.242-140C>A	1.37:g.3782236C>A			O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom	p.R91	ENST00000378209.3	37	c.271	CCDS52.1	1																																																																																			DFFB	-	NULL	ENSG00000169598		0.602	DFFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFFB	HGNC	protein_coding	OTTHUMT00000009821.2	-	0.00	30	0	C	NM_001282669		3782236	+1	tier1	-	no_errors	ENST00000339350	ensembl	human	known	74_37	silent	46.15	21	18	SNP	0.000	A
DGKI	9162	genome.wustl.edu	37	7	137257514	137257514	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:137257514G>T	ENST00000288490.5	-	18	1832	c.1832C>A	c.(1831-1833)cCc>cAc	p.P611H	DGKI_ENST00000453654.2_Missense_Mutation_p.P311H|DGKI_ENST00000446122.1_Missense_Mutation_p.P611H|DGKI_ENST00000424189.2_Missense_Mutation_p.P611H	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	611					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGCCTACCTGGGTATATTTAA	0.363																																																	0													99.0	104.0	102.0					7																	137257514		2203	4300	6503	SO:0001583	missense	0			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1832C>A	7.37:g.137257514G>T	ENSP00000288490:p.Pro611His		A4D1Q9|Q9NZ49	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P611H	ENST00000288490.5	37	c.1832	CCDS5845.1	7	.	.	.	.	.	.	.	.	.	.	G	26.1	4.700261	0.88924	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.49720	0.77;0.77;0.77	5.44	5.44	0.79542	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.68137	0.2968	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.70421	-0.4876	10	0.87932	D	0	.	18.8798	0.92352	0.0:0.0:1.0:0.0	.	311;611	E9PFX6;O75912	.;DGKI_HUMAN	H	311;559;611;611;611	ENSP00000392161:P311H;ENSP00000288490:P611H;ENSP00000399131:P611H	ENSP00000288490:P611H	P	-	2	0	DGKI	136908054	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.349000	0.97066	2.563000	0.86464	0.557000	0.71058	CCC	DGKI	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory	ENSG00000157680		0.363	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKI	HGNC	protein_coding	OTTHUMT00000341286.3		0.00	28	0	G	NM_004717		137257514	-1			no_errors	ENST00000288490	ensembl	human	known	74_37	missense	7.89	35	3	SNP	1.000	T
LRRC16B	90668	genome.wustl.edu	37	14	24520063	24520063	+	5'Flank	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:24520063G>T	ENST00000342740.5	+	0	0				LRRC16B_ENST00000334420.7_5'Flank|RP11-468E2.9_ENST00000558293.1_RNA	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B							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)		TATTCCCCAGGTTAGGCGAGC	0.507																																																	0													62.0	61.0	62.0					14																	24520063		2203	4300	6503	SO:0001631	upstream_gene_variant	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			14.37:g.24520063G>T	Exception_encountered		Q8TEF7|Q96HS9	RNA	SNP	-	NULL	ENST00000342740.5	37	NULL	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	G	1.050	-0.676139	0.03378	.	.	ENSG00000225766	ENST00000397065	.	.	.	4.82	0.995	0.19838	NAD(P)-binding domain (1);	.	.	.	.	T	0.79656	0.4483	H	0.95114	3.625	.	.	.	D	0.89917	1.0	D	0.87578	0.998	T	0.81824	-0.0755	6	.	.	.	.	8.1538	0.31156	0.3339:0.0:0.6661:0.0	.	244	P0CG22	DR4L1_HUMAN	S	244	.	.	R	+	3	2	AL136295.1	23589903	0.993000	0.37304	0.177000	0.23020	0.068000	0.16541	2.144000	0.42197	0.010000	0.14839	0.455000	0.32223	AGG	RP11-468E2.9	-	-	ENSG00000225766		0.507	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DHRS4L1	Clone_based_vega_gene	protein_coding	OTTHUMT00000416527.1	-	0.00	88	0	G	NM_138360		24520063	+1	tier1	-	no_errors	ENST00000558293	ensembl	human	known	74_37	rna	6.78	55	4	SNP	0.252	T
DHX16	8449	genome.wustl.edu	37	6	30638221	30638221	+	Missense_Mutation	SNP	C	C	T	rs200028840		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:30638221C>T	ENST00000376442.3	-	4	827	c.632G>A	c.(631-633)cGc>cAc	p.R211H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	211					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.R211H(1)		kidney(2)|ovary(2)	4						CATCTTGAGGCGCTTCTGAGC	0.517																																																	1	Substitution - Missense(1)	large_intestine(1)											33.0	32.0	32.0					6																	30638221		1507	2707	4214	SO:0001583	missense	0			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.632G>A	6.37:g.30638221C>T	ENSP00000365625:p.Arg211His		O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R211H	ENST00000376442.3	37	c.632	CCDS4685.1	6	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622872	0.87460	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.52754	0.65;0.65	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.63488	0.911;0.915	T	0.73180	-0.4064	10	0.72032	D	0.01	.	17.0904	0.86620	0.0:1.0:0.0:0.0	.	151;211	B4DZ28;O60231	.;DHX16_HUMAN	H	211;151	ENSP00000365625:R211H;ENSP00000399101:R151H	ENSP00000365625:R211H	R	-	2	0	DHX16	30746200	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.793000	0.62474	2.560000	0.86352	0.455000	0.32223	CGC	DHX16	-	NULL	ENSG00000204560		0.517	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX16	HGNC	protein_coding	OTTHUMT00000076076.2	-	0.00	24	0	C	NM_003587		30638221	-1	tier1	rs200028840	no_errors	ENST00000376442	ensembl	human	known	74_37	missense	43.24	21	16	SNP	1.000	T
DHX34	9704	genome.wustl.edu	37	19	47884244	47884244	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:47884244C>A	ENST00000328771.4	+	15	3503	c.3154C>A	c.(3154-3156)Ctc>Atc	p.L1052I		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1052					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CTACAACTGCCTCACGGTAAG	0.597																																																	0													69.0	62.0	64.0					19																	47884244		2203	4300	6503	SO:0001583	missense	0			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.3154C>A	19.37:g.47884244C>A	ENSP00000331907:p.Leu1052Ile		B4DMY8	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1052I	ENST00000328771.4	37	c.3154	CCDS12700.1	19	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816853	0.70912	.	.	ENSG00000134815	ENST00000328771	T	0.04015	3.73	4.41	4.41	0.53225	.	0.000000	0.50627	D	0.000120	T	0.13543	0.0328	L	0.55213	1.73	0.49915	D	0.999833	D	0.67145	0.996	P	0.57283	0.817	T	0.01508	-1.1337	10	0.41790	T	0.15	-41.2816	16.269	0.82606	0.0:1.0:0.0:0.0	.	1052	Q14147	DHX34_HUMAN	I	1052	ENSP00000331907:L1052I	ENSP00000331907:L1052I	L	+	1	0	DHX34	52576075	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.750000	0.55157	2.440000	0.82611	0.561000	0.74099	CTC	DHX34	-	NULL	ENSG00000134815		0.597	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX34	HGNC	protein_coding	OTTHUMT00000314313.3	-	0.00	28	0	C	NM_014681		47884244	+1	tier1	-	no_errors	ENST00000328771	ensembl	human	known	74_37	missense	48.00	13	12	SNP	1.000	A
DHX37	57647	genome.wustl.edu	37	12	125438447	125438447	+	Missense_Mutation	SNP	G	G	A	rs369049552		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:125438447G>A	ENST00000308736.2	-	20	2772	c.2674C>T	c.(2674-2676)Cgg>Tgg	p.R892W	DHX37_ENST00000544745.1_Missense_Mutation_p.R679W	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	892							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGCTGGCCCCGCAGGCGCCGG	0.647																																																	0								G	TRP/ARG	0,4394		0,0,2197	16.0	16.0	16.0		2674	3.5	1.0	12		16	1,8579		0,1,4289	no	missense	DHX37	NM_032656.3	101	0,1,6486	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	892/1158	125438447	1,12973	2197	4290	6487	SO:0001583	missense	0			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2674C>T	12.37:g.125438447G>A	ENSP00000311135:p.Arg892Trp		Q9BUI7|Q9P211	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R892W	ENST00000308736.2	37	c.2674	CCDS9261.1	12	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096113	0.76870	0.0	1.17E-4	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03330	3.97;3.97	5.44	3.49	0.39957	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.49351	-0.8949	10	0.87932	D	0	-32.7186	13.3967	0.60858	0.0:0.0:0.5587:0.4413	.	892	Q8IY37	DHX37_HUMAN	W	892;679	ENSP00000311135:R892W;ENSP00000439009:R679W	ENSP00000311135:R892W	R	-	1	2	DHX37	124004400	0.934000	0.31675	1.000000	0.80357	0.985000	0.73830	0.934000	0.28910	1.284000	0.44531	0.462000	0.41574	CGG	DHX37	-	superfamily_P-loop_NTPase	ENSG00000150990		0.647	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX37	HGNC	protein_coding		-	0.00	36	0	G	NM_032656		125438447	-1	tier1	-	no_errors	ENST00000308736	ensembl	human	known	74_37	missense	48.57	18	17	SNP	0.997	A
DHX38	9785	genome.wustl.edu	37	16	72141562	72141562	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:72141562G>A	ENST00000268482.3	+	21	3337	c.2828G>A	c.(2827-2829)gGg>gAg	p.G943E	DHX38_ENST00000536867.1_Missense_Mutation_p.G255E	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	943					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ACCTCTACCGGGCGGCTGATG	0.582																																					Melanoma(97;711 1442 7855 13832 28836)												0													156.0	153.0	154.0					16																	72141562		2198	4300	6498	SO:0001583	missense	0			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2828G>A	16.37:g.72141562G>A	ENSP00000268482:p.Gly943Glu		B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G943E	ENST00000268482.3	37	c.2828	CCDS10907.1	16	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647721	0.87958	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.80304	-1.36;-1.36	5.43	5.43	0.79202	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	D	0.95918	0.8671	H	0.99990	5.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98055	1.0390	10	0.87932	D	0	.	19.4202	0.94719	0.0:0.0:1.0:0.0	.	255;943	B4DVG8;Q92620	.;PRP16_HUMAN	E	943;255	ENSP00000268482:G943E;ENSP00000437898:G255E	ENSP00000268482:G943E	G	+	2	0	DHX38	70699063	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.463000	0.80869	2.825000	0.97269	0.655000	0.94253	GGG	DHX38	-	pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom	ENSG00000140829		0.582	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	HGNC	protein_coding	OTTHUMT00000269004.3	-	0.00	103	0	G	NM_014003		72141562	+1	tier1	-	no_errors	ENST00000268482	ensembl	human	known	74_37	missense	39.36	57	37	SNP	1.000	A
DHX57	90957	genome.wustl.edu	37	2	39085933	39085933	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:39085933G>T	ENST00000295373.6	-	6	1583	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	AC018693.6_ENST00000442829.1_RNA|DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	486							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AACAGGTGCAGGACCGTCATC	0.378																																					Melanoma(191;1090 2095 4375 23729 47341)												0													113.0	107.0	109.0					2																	39085933		2203	4300	6503	SO:0001583	missense	0			AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.1457C>A	2.37:g.39085933G>T	ENSP00000295373:p.Pro486His		A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P486H	ENST00000295373.6	37	c.1457	CCDS1800.1	2	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290124	0.59976	.	.	ENSG00000163214	ENST00000295373;ENST00000355320	T	0.10099	2.91	5.7	4.63	0.57726	.	0.259072	0.27513	N	0.019027	T	0.15392	0.0371	N	0.19112	0.55	0.27590	N	0.9493	D;D	0.76494	0.999;0.958	D;P	0.63192	0.912;0.63	T	0.02491	-1.1151	10	0.56958	D	0.05	.	10.2817	0.43543	0.2014:0.0:0.7986:0.0	.	486;486	Q6P158-2;Q6P158	.;DHX57_HUMAN	H	486;384	ENSP00000295373:P486H	ENSP00000295373:P486H	P	-	2	0	DHX57	38939437	0.995000	0.38212	1.000000	0.80357	0.932000	0.56968	1.541000	0.36126	2.683000	0.91414	0.655000	0.94253	CCT	DHX57	-	NULL	ENSG00000163214		0.378	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX57	HGNC	protein_coding	OTTHUMT00000219940.2	-	0.00	34	0	G	NM_145646		39085933	-1	tier1	-	no_errors	ENST00000295373	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.838	T
DIEXF	27042	genome.wustl.edu	37	1	210006627	210006627	+	Silent	SNP	C	C	T	rs376855755		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:210006627C>T	ENST00000491415.2	+	4	543	c.486C>T	c.(484-486)caC>caT	p.H162H		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	162	Glu-rich.				multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						ATGCAAAACACGAGTCACTGT	0.468																																																	0								C		0,4406		0,0,2203	117.0	107.0	110.0		486	-6.3	0.9	1		110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DIEXF	NM_014388.6		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		162/757	210006627	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.486C>T	1.37:g.210006627C>T			O75992|Q4VY00|Q63HL9	Silent	SNP	pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase	p.H162	ENST00000491415.2	37	c.486	CCDS1493.1	1																																																																																			DIEXF	-	NULL	ENSG00000117597		0.468	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	HGNC	protein_coding	OTTHUMT00000089127.2	-	0.00	78	0	C	NM_014388		210006627	+1	tier1	-	no_errors	ENST00000491415	ensembl	human	known	74_37	silent	32.58	60	29	SNP	0.826	T
DIO3	1735	genome.wustl.edu	37	14	102024806	102024806	+	5'Flank	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:102024806delG	ENST00000510508.4	+	0	0				DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_5'Flank			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III						cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				AAGGTGAGCTGGGGGTGCAGC	0.602																																																	0																																										SO:0001631	upstream_gene_variant	0			S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681		14.37:g.102024806delG	Exception_encountered		G3XAM0|Q8WVN5	RNA	DEL	-	NULL	ENST00000510508.4	37	NULL	CCDS41992.2	14																																																																																			DIO3OS	-	-	ENSG00000258498		0.602	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	DIO3OS	HGNC	protein_coding	OTTHUMT00000361712.4		0.00	36	0	G	NM_001362		102024806	-1	tier1		no_errors	ENST00000554735	ensembl	human	known	74_37	rna	33.33	24	12	DEL	0.000	-
DISC1	27185	genome.wustl.edu	37	1	231858326	231858326	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:231858326T>C	ENST00000317586.4	+	3	1142	c.1089T>C	c.(1087-1089)caT>caC	p.H363H	TSNAX-DISC1_ENST00000602962.1_Intron|DISC1_ENST00000539444.1_Intron|DISC1_ENST00000602281.1_Intron|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000366636.4_Intron|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366633.3_Intron|DISC1_ENST00000535983.1_Intron|DISC1_ENST00000439617.2_Intron|DISC1_ENST00000366637.3_Intron	NM_001012958.1	NP_001012976.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	0	Interaction with TRAF3IP1.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				AGCCTCGACATCCTGAACCAA	0.398																																																	0													97.0	91.0	93.0					1																	231858326		2203	4300	6503	SO:0001819	synonymous_variant	0			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000317586.4:c.1089T>C	1.37:g.231858326T>C			A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Silent	SNP	NULL	p.H363	ENST00000317586.4	37	c.1089	CCDS31056.1	1	.	.	.	.	.	.	.	.	.	.	T	7.229	0.598857	0.13939	.	.	ENSG00000162946	ENST00000366632	.	.	.	4.5	3.38	0.38709	.	.	.	.	.	T	0.30572	0.0769	.	.	.	0.19575	N	0.999963	P;P	0.36587	0.559;0.559	B;B	0.38056	0.264;0.192	T	0.22695	-1.0209	7	0.87932	D	0	.	6.4109	0.21690	0.0:0.1103:0.0:0.8897	.	429;387	C4P0D2;C4P0D0	.;.	P	238	.	ENSP00000355592:S238P	S	+	1	0	DISC1	229924949	0.000000	0.05858	0.017000	0.16124	0.220000	0.24768	0.419000	0.21247	0.762000	0.33152	0.528000	0.53228	TCC	DISC1	-	NULL	ENSG00000162946		0.398	DISC1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	DISC1	HGNC	protein_coding	OTTHUMT00000092355.2	-	0.00	70	0	T	NM_018662		231858326	+1	tier1	-	no_errors	ENST00000317586	ensembl	human	known	74_37	silent	23.77	93	29	SNP	0.045	C
GNAO1	2775	genome.wustl.edu	37	16	56226638	56226639	+	Intron	INS	-	-	CACA	rs374523415|rs74020179|rs60037687|rs149880726		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:56226638_56226639insCACA	ENST00000262493.6	+	2	1007				RP11-461O7.1_ENST00000501259.1_lincRNA|GNAO1_ENST00000262494.7_Intron|CTD-2050B12.2_ENST00000567381.1_RNA|GNAO1_ENST00000569295.1_Intron	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TTTAATTCGTGcacacacacac	0.441																																																	0																																										SO:0001627	intron_variant	0				CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.161+110->CACA	16.37:g.56226643_56226646dupCACA			P29777|Q8TD72|Q9UMV4	RNA	INS	-	NULL	ENST00000262493.6	37	NULL	CCDS10756.1	16																																																																																			CTD-2050B12.2	-	-	ENSG00000261439		0.441	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKFZP434H168	Clone_based_vega_gene	protein_coding	OTTHUMT00000256981.2		0.00	51	0	-	NM_020988		56226639	-1	tier1		no_errors	ENST00000567381	ensembl	human	known	74_37	rna	18.00	41	9	INS	0.000:0.271	CACA
DLC1	10395	genome.wustl.edu	37	8	12973135	12973135	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:12973135T>C	ENST00000276297.4	-	6	1789	c.1380A>G	c.(1378-1380)ctA>ctG	p.L460L	DLC1_ENST00000512044.2_Silent_p.L57L|DLC1_ENST00000358919.2_Silent_p.L23L|DLC1_ENST00000520226.1_5'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	460	SAM.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CAGTTGCCCGTAGCCAATCAC	0.418																																																	0													70.0	69.0	70.0					8																	12973135		2203	4300	6503	SO:0001819	synonymous_variant	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1380A>G	8.37:g.12973135T>C			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.L460	ENST00000276297.4	37	c.1380	CCDS5989.1	8																																																																																			DLC1	-	pfam_SAM_2	ENSG00000164741		0.418	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	-	0.00	36	0	T	NM_182643, NM_006094		12973135	-1	tier1	-	no_errors	ENST00000276297	ensembl	human	known	74_37	silent	25.64	29	10	SNP	0.080	C
DLG2	1740	genome.wustl.edu	37	11	83182726	83182726	+	Missense_Mutation	SNP	G	G	A	rs34857356	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:83182726G>A	ENST00000532653.1	-	19	2322	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	DLG2_ENST00000426717.2_Missense_Mutation_p.R156W|DLG2_ENST00000376104.2_Missense_Mutation_p.R797W|DLG2_ENST00000330014.6_Missense_Mutation_p.R613W|DLG2_ENST00000524982.1_Missense_Mutation_p.R688W|DLG2_ENST00000543673.1_Missense_Mutation_p.R797W|DLG2_ENST00000531015.1_Missense_Mutation_p.R659W|DLG2_ENST00000398309.2_Missense_Mutation_p.R692W|DLG2_ENST00000280241.8_Missense_Mutation_p.R731W|DLG2_ENST00000404783.3_Missense_Mutation_p.R170W|DLG2_ENST00000418306.2_Missense_Mutation_p.R571W|DLG2_ENST00000537455.1_Missense_Mutation_p.R442W|DLG2_ENST00000376106.3_Missense_Mutation_p.R156W			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	389					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCATTGATCCGATCCTTCATG	0.433																																																	0													67.0	65.0	65.0					11																	83182726		1848	4093	5941	SO:0001583	missense	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.2020C>T	11.37:g.83182726G>A	ENSP00000435849:p.Arg674Trp		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.R797W	ENST00000532653.1	37	c.2389		11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056276	0.76074	.	.	ENSG00000150672	ENST00000398309;ENST00000426717;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000404783;ENST00000330014;ENST00000537455;ENST00000376106;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000457267;ENST00000420775	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46063	2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;0.88	5.08	4.16	0.48862	Src homology-3 domain (1);Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.64402	D	0.000018	T	0.70193	0.3196	M	0.89658	3.05	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.993;0.999;0.998;0.998;0.999;0.994	T	0.77598	-0.2528	9	.	.	.	.	15.211	0.73225	0.0:0.0:0.8581:0.1419	.	659;674;688;613;170;797;692;571	E9PIW2;B7Z2T4;E9PN83;B7Z264;B5MCC5;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	W	692;156;797;571;797;731;170;613;442;156;688;674;797;659;44;174	ENSP00000381355:R692W;ENSP00000393049:R156W;ENSP00000365272:R797W;ENSP00000402275:R571W;ENSP00000441994:R797W;ENSP00000280241:R731W;ENSP00000385113:R170W;ENSP00000381353:R613W;ENSP00000443248:R442W;ENSP00000365274:R156W;ENSP00000432894:R688W;ENSP00000435849:R674W;ENSP00000433848:R659W;ENSP00000409133:R44W;ENSP00000391017:R174W	.	R	-	1	2	DLG2	82860374	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.082000	0.30803	1.243000	0.43853	0.591000	0.81541	CGG	DLG2	-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin-like	ENSG00000150672		0.433	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	-	0.00	34	0	G	NM_001364		83182726	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	missense	41.38	17	12	SNP	1.000	A
DLG2	1740	genome.wustl.edu	37	11	83770365	83770365	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:83770365G>T	ENST00000532653.1	-	6	899	c.597C>A	c.(595-597)ggC>ggA	p.G199G	DLG2_ENST00000376104.2_Silent_p.G304G|DLG2_ENST00000330014.6_Silent_p.G138G|DLG2_ENST00000524982.1_Silent_p.G199G|DLG2_ENST00000543673.1_Silent_p.G304G|DLG2_ENST00000531015.1_Silent_p.G166G|DLG2_ENST00000398309.2_Silent_p.G199G|DLG2_ENST00000280241.8_Silent_p.G238G|DLG2_ENST00000418306.2_Silent_p.G148G|DLG2_ENST00000398301.2_Silent_p.G238G|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000376106.3_5'UTR			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TACCTTTAGGGCCTTTGAACA	0.438																																																	0													127.0	119.0	121.0					11																	83770365		1888	4117	6005	SO:0001819	synonymous_variant	0			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.597C>A	11.37:g.83770365G>T			B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.G304	ENST00000532653.1	37	c.912		11																																																																																			DLG2	-	pfam_PDZ,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ	ENSG00000150672		0.438	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	DLG2	HGNC	protein_coding	OTTHUMT00000259253.2	-	0.00	35	0	G	NM_001364		83770365	-1	tier1	-	no_errors	ENST00000376104	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.696	T
DLG4	1742	genome.wustl.edu	37	17	7095249	7095249	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:7095249C>T	ENST00000399506.2	-	18	2130	c.1939G>A	c.(1939-1941)Gcc>Acc	p.A647T	DLG4_ENST00000302955.6_Missense_Mutation_p.A644T|DLG4_ENST00000399510.2_Missense_Mutation_p.A690T			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	647	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	ATGAAGATGGCGATGGGGTGC	0.687																																																	0													40.0	50.0	47.0					17																	7095249		2001	4149	6150	SO:0001583	missense	0			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1939G>A	17.37:g.7095249C>T	ENSP00000382425:p.Ala647Thr		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.A690T	ENST00000399506.2	37	c.2068		17	.	.	.	.	.	.	.	.	.	.	C	31	5.079695	0.94050	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912	T;T;T	0.44482	0.92;0.92;0.92	5.31	5.31	0.75309	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	.	.	.	.	T	0.54967	0.1891	L	0.58510	1.815	0.80722	D	1	D;P;P;P	0.60160	0.987;0.546;0.812;0.611	P;P;P;B	0.55577	0.779;0.603;0.567;0.351	T	0.54516	-0.8282	9	0.52906	T	0.07	.	16.5188	0.84308	0.0:1.0:0.0:0.0	.	687;647;644;690	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	T	647;644;690;690;587	ENSP00000382425:A647T;ENSP00000307471:A644T;ENSP00000382428:A690T	ENSP00000293813:A690T	A	-	1	0	DLG4	7035973	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.859000	0.69539	2.755000	0.94549	0.650000	0.86243	GCC	DLG4	-	pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like	ENSG00000132535		0.687	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	DLG4	HGNC	protein_coding	OTTHUMT00000259419.2	-	0.00	39	0	C	NM_001365		7095249	-1	tier1	-	no_errors	ENST00000399510	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	T
DLGAP4	22839	genome.wustl.edu	37	20	35155512	35155512	+	3'UTR	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:35155512A>G	ENST00000373907.2	+	0	3256				RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000475894.1_3'UTR|RP5-977B1.7_ENST00000433238.1_RNA|DLGAP4_ENST00000373913.3_3'UTR|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000340491.4_3'UTR|DLGAP4_ENST00000401952.2_3'UTR|DLGAP4_ENST00000339266.5_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4						cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GAGTTTTCTCAACCTTTGCTA	0.443																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.*78A>G	20.37:g.35155512A>G			E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	RNA	SNP	-	NULL	ENST00000373907.2	37	NULL		20																																																																																			DLGAP4	-	-	ENSG00000080845		0.443	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding	OTTHUMT00000079025.2	-	0.00	26	0	A	NM_014902		35155512	+1	tier1	-	no_errors	ENST00000475894	ensembl	human	known	74_37	rna	30.77	27	12	SNP	0.995	G
DLGAP4	22839	genome.wustl.edu	37	20	35156540	35156543	+	3'UTR	DEL	TTTT	TTTT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:35156540_35156543delTTTT	ENST00000339266.5	+	0	4085_4088				RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000475894.1_3'UTR|RP5-977B1.7_ENST00000433238.1_RNA|DLGAP4_ENST00000373913.3_3'UTR|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000401952.2_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4						cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TAAGCAGCCCTTTTTTTTTTTGGT	0.441																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000339266.5:c.*1109TTTT>-	20.37:g.35156544_35156547delTTTT			E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	RNA	DEL	-	NULL	ENST00000339266.5	37	NULL		20																																																																																			DLGAP4	-	-	ENSG00000080845		0.441	DLGAP4-201	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding			0.00	47	0	TTTT	NM_014902		35156543	+1	tier1		no_errors	ENST00000475894	ensembl	human	known	74_37	rna	31.25	33	15	DEL	0.010:0.004:0.002:0.003	-
DLGAP5	9787	genome.wustl.edu	37	14	55625371	55625371	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:55625371delT	ENST00000247191.2	-	14	1958	c.1742delA	c.(1741-1743)aatfs	p.N581fs	DLGAP5_ENST00000395425.2_Frame_Shift_Del_p.N581fs	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	581					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTCATTGCATTTTTTATGGC	0.393																																																	0													116.0	103.0	107.0					14																	55625371		2202	4300	6502	SO:0001589	frameshift_variant	0			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1742delA	14.37:g.55625371delT	ENSP00000247191:p.Asn581fs		A8MTM6|B4DRM8|Q86T11|Q8NG58	Frame_Shift_Del	DEL	pfam_GKAP	p.N581fs	ENST00000247191.2	37	c.1742	CCDS9723.1	14																																																																																			DLGAP5	-	pfam_GKAP	ENSG00000126787		0.393	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2		0.00	67	0	T	NM_014750		55625371	-1	tier1		no_errors	ENST00000247191	ensembl	human	known	74_37	frame_shift_del	34.21	50	26	DEL	0.680	-
DLL1	28514	genome.wustl.edu	37	6	170592659	170592659	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:170592659G>A	ENST00000366756.3	-	9	2041	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	570					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AGCCTCAGCCGGACGCAGACC	0.687																																																	0													39.0	39.0	39.0					6																	170592659		2203	4299	6502	SO:0001583	missense	0			AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1708C>T	6.37:g.170592659G>A	ENSP00000355718:p.Arg570Trp		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom	p.R570W	ENST00000366756.3	37	c.1708	CCDS5313.1	6	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981111	0.34942	.	.	ENSG00000198719	ENST00000366756	D	0.86865	-2.18	5.11	3.25	0.37280	.	0.000000	0.85682	D	0.000000	D	0.90800	0.7111	M	0.78637	2.42	0.54753	D	0.999989	D	0.89917	1.0	D	0.72625	0.978	D	0.91663	0.5344	10	0.87932	D	0	.	13.7297	0.62781	0.0:0.0:0.4655:0.5345	.	570	O00548	DLL1_HUMAN	W	570	ENSP00000355718:R570W	ENSP00000355718:R570W	R	-	1	2	DLL1	170434584	1.000000	0.71417	0.911000	0.35937	0.120000	0.20174	3.481000	0.53179	0.603000	0.29913	-0.182000	0.12963	CGG	DLL1	-	NULL	ENSG00000198719		0.687	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLL1	HGNC	protein_coding	OTTHUMT00000043254.1	-	0.00	64	0	G			170592659	-1	tier1	-	no_errors	ENST00000366756	ensembl	human	known	74_37	missense	35.00	26	14	SNP	0.993	A
DLX6	1750	genome.wustl.edu	37	7	96635421	96635423	+	In_Frame_Del	DEL	GCC	GCC	-	rs527616759|rs540915866|rs570498188|rs374304439	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GCC	GCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:96635421_96635423delGCC	ENST00000518156.2	+	1	562_564	c.132_134delGCC	c.(130-135)cagccg>cag	p.P53del	DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS2_ENST00000606174.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					aacagcaacagccgccgccgccg	0.704																																																	0																																										SO:0001651	inframe_deletion	0				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.132_134delGCC	7.37:g.96635430_96635432delGCC	ENSP00000428480:p.Pro53del		A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.P48in_frame_del	ENST00000518156.2	37	c.132_134	CCDS47647.2	7																																																																																			DLX6	-	NULL	ENSG00000006377		0.704	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLX6	HGNC	protein_coding	OTTHUMT00000334373.4		0.00	49	0	GCC	NM_005222		96635423	+1	tier1		no_errors	ENST00000518156	ensembl	human	known	74_37	in_frame_del	12.50	49	7	DEL	1.000:1.000:0.992	-
DLX6	1750	genome.wustl.edu	37	7	96635545	96635547	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CAC	CAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:96635545_96635547delCAC	ENST00000518156.2	+	1	686_688	c.256_258delCAC	c.(256-258)cacdel	p.H91del	DLX6-AS1_ENST00000431497.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000555308.1_5'Flank|DLX6_ENST00000007660.5_In_Frame_Del_p.H63del|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS2_ENST00000606174.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGCCGGCTCGcaccaccaccacc	0.729																																																	0										63,3,2684		10,0,43,0,3,1319						-4.9	0.2			10	115,3,5884		8,1,98,0,2,2892	no	codingComplex	DLX6	NM_005222.3		18,1,141,0,5,4211	A1A1,A1A2,A1R,A2A2,A2R,RR		1.966,2.4,2.1024				178,6,8568				SO:0001651	inframe_deletion	0				CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.256_258delCAC	7.37:g.96635554_96635556delCAC	ENSP00000428480:p.His91del		A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	In_Frame_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.H89in_frame_del	ENST00000518156.2	37	c.256_258	CCDS47647.2	7																																																																																			DLX6	-	NULL	ENSG00000006377		0.729	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLX6	HGNC	protein_coding	OTTHUMT00000334373.4		0.00	8	0	CAC	NM_005222		96635547	+1	tier1		no_errors	ENST00000518156	ensembl	human	known	74_37	in_frame_del	42.86	4	3	DEL	0.872:0.883:0.914	-
DMC1	11144	genome.wustl.edu	37	22	38962674	38962674	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:38962674G>A	ENST00000216024.2	-	4	440	c.164C>T	c.(163-165)aCa>aTa	p.T55I	DMC1_ENST00000464842.1_5'Flank|DMC1_ENST00000428462.2_Missense_Mutation_p.T55I	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	55					female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome (GO:0005694)|chromosome, telomeric region (GO:0000781)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					AGCTCTTCTTGTTGTCATCTG	0.383								Homologous recombination																																									0													151.0	124.0	133.0					22																	38962674		2203	4300	6503	SO:0001583	missense	0			D63882	CCDS13973.1, CCDS63477.1	22q13.1	2013-05-02	2013-05-02		ENSG00000100206	ENSG00000100206			2927	protein-coding gene	gene with protein product		602721	"""DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific homologous recombination"", ""DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)"""			8602360, 8590282, 17541404	Standard	NM_007068		Approved	LIM15	uc003avz.2	Q14565	OTTHUMG00000151088	ENST00000216024.2:c.164C>T	22.37:g.38962674G>A	ENSP00000216024:p.Thr55Ile		A8K9A2|B4DMW6|Q08AI1|Q99498|Q9UH11	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase	p.T55I	ENST00000216024.2	37	c.164	CCDS13973.1	22	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595476	0.66219	.	.	ENSG00000100206	ENST00000216024;ENST00000428462;ENST00000439567;ENST00000366173;ENST00000415483	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.55	5.55	0.83447	DNA repair Rad51/transcription factor NusA, alpha-helical (1);	0.046705	0.85682	D	0.000000	T	0.48696	0.1514	M	0.79011	2.435	0.80722	D	1	B;P;B	0.37573	0.109;0.6;0.179	B;B;B	0.34346	0.112;0.18;0.159	T	0.55811	-0.8082	10	0.62326	D	0.03	-2.8921	19.6982	0.96039	0.0:0.0:1.0:0.0	.	55;55;55	B4DMW6;Q8IYL1;Q14565	.;.;DMC1_HUMAN	I	55	ENSP00000216024:T55I;ENSP00000412703:T55I;ENSP00000391385:T55I;ENSP00000410808:T55I	ENSP00000216024:T55I	T	-	2	0	DMC1	37292620	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.894000	0.99253	0.655000	0.94253	ACA	DMC1	-	superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,tigrfam_DMC1_rcmbase	ENSG00000100206		0.383	DMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMC1	HGNC	protein_coding	OTTHUMT00000321246.2	-	0.00	87	0	G	NM_007068		38962674	-1	tier1	-	no_errors	ENST00000216024	ensembl	human	known	74_37	missense	35.21	46	25	SNP	1.000	A
DMXL2	23312	genome.wustl.edu	37	15	51787281	51787281	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:51787281G>T	ENST00000251076.5	-	19	5010	c.4723C>A	c.(4723-4725)Cta>Ata	p.L1575I	DMXL2_ENST00000543779.2_Missense_Mutation_p.L1575I|DMXL2_ENST00000449909.3_Missense_Mutation_p.L939I|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1575						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CATGTGTGTAGGCGCATAGCT	0.393																																																	0													146.0	131.0	136.0					15																	51787281		2195	4293	6488	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4723C>A	15.37:g.51787281G>T	ENSP00000251076:p.Leu1575Ile		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1575I	ENST00000251076.5	37	c.4723	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145086	0.57044	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.51325	0.71;0.71;0.71	5.75	-0.177	0.13307	.	0.000000	0.85682	D	0.000000	T	0.59891	0.2227	M	0.72353	2.195	0.42130	D	0.991461	D;D;D	0.76494	0.997;0.992;0.999	D;D;D	0.83275	0.909;0.987;0.996	T	0.58008	-0.7712	10	0.19590	T	0.45	.	10.7261	0.46068	0.6004:0.0:0.3996:0.0	.	1575;939;1575	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	I	1575;1575;939	ENSP00000251076:L1575I;ENSP00000441858:L1575I;ENSP00000400855:L939I	ENSP00000251076:L1575I	L	-	1	2	DMXL2	49574573	0.998000	0.40836	0.999000	0.59377	0.962000	0.63368	1.140000	0.31516	0.146000	0.19002	-0.229000	0.12294	CTA	DMXL2	-	pfam_Rav1p_C	ENSG00000104093		0.393	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	-	0.00	26	0	G	NM_015263		51787281	-1	tier1	-	no_errors	ENST00000543779	ensembl	human	known	74_37	missense	40.00	15	10	SNP	0.939	T
DMXL2	23312	genome.wustl.edu	37	15	51860757	51860758	+	Splice_Site	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:51860757_51860758insA	ENST00000251076.5	-	3	501		c.e3-2		DMXL2_ENST00000543779.2_Splice_Site|DMXL2_ENST00000449909.3_Splice_Site|DMXL2_ENST00000560421.1_Splice_Site	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGCTGCAATCTAAAAAAGAATA	0.252																																																	0																																										SO:0001630	splice_region_variant	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.214-2->T	15.37:g.51860763_51860763dupA			B2RTR3|B7ZMH3|F5GWF1|O94938	Splice_Site	INS	-	e3-2	ENST00000251076.5	37	c.214-3_214-2	CCDS10141.1	15																																																																																			DMXL2	-	-	ENSG00000104093		0.252	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2		0.00	29	0	-	NM_015263	Intron	51860758	-1	tier1		no_errors	ENST00000543779	ensembl	human	known	74_37	splice_site_ins	40.54	22	15	INS	1.000:0.998	A
DNAH1	25981	genome.wustl.edu	37	3	52431015	52431015	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:52431015C>T	ENST00000420323.2	+	73	12003	c.11742C>T	c.(11740-11742)agC>agT	p.S3914S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3979	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACAGCTACAGCGCCTCGGGCA	0.632																																																	0													32.0	34.0	34.0					3																	52431015		2021	4181	6202	SO:0001819	synonymous_variant	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11742C>T	3.37:g.52431015C>T			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase	p.S3914	ENST00000420323.2	37	c.11742	CCDS46842.1	3																																																																																			DNAH1	-	pfam_Dynein_heavy_dom	ENSG00000114841		0.632	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	-	0.00	44	0	C	NM_015512		52431015	+1	tier1	-	no_errors	ENST00000420323	ensembl	human	known	74_37	silent	56.00	11	14	SNP	0.002	T
DNAH10	196385	genome.wustl.edu	37	12	124298415	124298415	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:124298415G>T	ENST00000409039.3	+	20	3407	c.3382G>T	c.(3382-3384)Gac>Tac	p.D1128Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1128	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGATATAGGGACGTCCAGGA	0.393																																																	0													77.0	74.0	75.0					12																	124298415		1979	4187	6166	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3382G>T	12.37:g.124298415G>T	ENSP00000386770:p.Asp1128Tyr		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.D1128Y	ENST00000409039.3	37	c.3382	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945009	0.73672	.	.	ENSG00000197653	ENST00000409039	T	0.22539	1.95	5.72	5.72	0.89469	.	.	.	.	.	T	0.50411	0.1614	M	0.83483	2.645	0.80722	D	1	D	0.67145	0.996	P	0.61940	0.896	T	0.54214	-0.8327	9	0.72032	D	0.01	.	19.8751	0.96867	0.0:0.0:1.0:0.0	.	1128	Q8IVF4	DYH10_HUMAN	Y	1128	ENSP00000386770:D1128Y	ENSP00000386770:D1128Y	D	+	1	0	DNAH10	122864368	1.000000	0.71417	0.980000	0.43619	0.320000	0.28249	9.609000	0.98334	2.695000	0.91970	0.655000	0.94253	GAC	DNAH10	-	NULL	ENSG00000197653		0.393	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0.00	61	0	G			124298415	+1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	missense	16.44	61	12	SNP	1.000	T
DNAH10	196385	genome.wustl.edu	37	12	124335572	124335572	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:124335572G>A	ENST00000409039.3	+	34	5911	c.5886G>A	c.(5884-5886)ctG>ctA	p.L1962L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1962	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGCCCGACCTGCAGCAGATCT	0.642																																																	0													40.0	44.0	42.0					12																	124335572		2124	4250	6374	SO:0001819	synonymous_variant	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5886G>A	12.37:g.124335572G>A			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase	p.L1962	ENST00000409039.3	37	c.5886	CCDS9255.2	12																																																																																			DNAH10	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000197653		0.642	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	-	0.00	40	0	G			124335572	+1	tier1	-	no_errors	ENST00000409039	ensembl	human	known	74_37	silent	38.46	24	15	SNP	1.000	A
DNAH11	8701	genome.wustl.edu	37	7	21857862	21857862	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:21857862G>T	ENST00000409508.3	+	65	10627	c.10596G>T	c.(10594-10596)ttG>ttT	p.L3532F	DNAH11_ENST00000328843.6_Missense_Mutation_p.L3539F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3539	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAACTGCTTTGGCCTTTGGTG	0.333									Kartagener syndrome																																								0													95.0	86.0	89.0					7																	21857862		1832	4080	5912	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10596G>T	7.37:g.21857862G>T	ENSP00000475939:p.Leu3532Phe		Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.L3539F	ENST00000409508.3	37	c.10617		7	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508601	0.44660	.	.	ENSG00000105877	ENST00000328843	T	0.27256	1.68	5.48	4.61	0.57282	.	0.427890	0.23135	N	0.051530	T	0.24661	0.0598	.	.	.	0.37766	D	0.926507	B	0.12630	0.006	B	0.20384	0.029	T	0.09997	-1.0649	9	0.87932	D	0	.	12.3178	0.54966	0.1406:0.0:0.8594:0.0	.	3539	Q96DT5	DYH11_HUMAN	F	3539	ENSP00000330671:L3539F	ENSP00000330671:L3539F	L	+	3	2	DNAH11	21824387	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	0.762000	0.26503	1.334000	0.45468	0.644000	0.83932	TTG	DNAH11	-	NULL	ENSG00000105877		0.333	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	-	0.00	41	0	G	NM_003777		21857862	+1	tier1	-	no_errors	ENST00000328843	ensembl	human	known	74_37	missense	11.54	46	6	SNP	1.000	T
DNAH14	127602	genome.wustl.edu	37	1	225230734	225230735	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:225230734_225230735insA	ENST00000445597.2	+	11	1743_1744	c.1743_1744insA	c.(1744-1746)aaafs	p.K582fs	DNAH14_ENST00000430092.1_Frame_Shift_Ins_p.K563fs|DNAH14_ENST00000439375.2_Frame_Shift_Ins_p.K563fs			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	582					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						ACAATTGTGTCAAAAAACACTC	0.332																																																	0																																										SO:0001589	frameshift_variant	0			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.1749dupA	1.37:g.225230740_225230740dupA	ENSP00000409472:p.Lys582fs		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Frame_Shift_Ins	INS	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase	p.H564fs	ENST00000445597.2	37	c.1686_1687		1																																																																																			DNAH14	-	NULL	ENSG00000185842		0.332	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3		0.00	38	0	-	XM_059166		225230735	+1	tier1		no_errors	ENST00000430092	ensembl	human	known	74_37	frame_shift_ins	34.92	41	22	INS	0.000:0.000	A
DNAH17	8632	genome.wustl.edu	37	17	76491157	76491157	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:76491157C>T	ENST00000585328.1	-	39	6035	c.5911G>A	c.(5911-5913)Gac>Aac	p.D1971N	RP11-559N14.5_ENST00000591373.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000389840.5_Missense_Mutation_p.D1962N	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1962	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTTCGAAGTCGGGGACGACC	0.602																																																	0													25.0	29.0	28.0					17																	76491157		2042	4206	6248	SO:0001583	missense	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.5911G>A	17.37:g.76491157C>T	ENSP00000465516:p.Asp1971Asn		O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd	p.D1962N	ENST00000585328.1	37	c.5884		17	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593358	0.86953	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.14893	2.47	3.76	3.76	0.43208	.	.	.	.	.	T	0.39036	0.1063	M	0.77712	2.385	0.48395	D	0.999646	.	.	.	.	.	.	T	0.44636	-0.9315	7	0.66056	D	0.02	.	15.8011	0.78454	0.0:1.0:0.0:0.0	.	.	.	.	N	1971;1962	ENSP00000374490:D1962N	ENSP00000300671:D1971N	D	-	1	0	DNAH17	74002752	1.000000	0.71417	0.996000	0.52242	0.770000	0.43624	7.420000	0.80191	1.937000	0.56155	0.499000	0.49734	GAC	DNAH17	-	superfamily_P-loop_NTPase	ENSG00000187775		0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	-	0.00	37	0	C	NM_173628		76491157	-1	tier1	-	no_errors	ENST00000389840	ensembl	human	known	74_37	missense	51.72	14	15	SNP	1.000	T
DNAH3	55567	genome.wustl.edu	37	16	20952745	20952745	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:20952745G>T	ENST00000261383.3	-	59	11631	c.11632C>A	c.(11632-11634)Cag>Aag	p.Q3878K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3878					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATGAGCTCCTGCCTTAGGACG	0.493																																																	0													331.0	318.0	322.0					16																	20952745		2201	4300	6501	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11632C>A	16.37:g.20952745G>T	ENSP00000261383:p.Gln3878Lys		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.Q3878K	ENST00000261383.3	37	c.11632	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.537177	0.96460	.	.	ENSG00000158486	ENST00000261383	T	0.11712	2.75	5.79	5.79	0.91817	Dynein heavy chain (1);	0.073936	0.53938	D	0.000043	T	0.58293	0.2112	H	0.99659	4.685	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.78593	-0.2144	10	0.87932	D	0	.	20.0313	0.97540	0.0:0.0:1.0:0.0	.	3878	Q8TD57	DYH3_HUMAN	K	3878	ENSP00000261383:Q3878K	ENSP00000261383:Q3878K	Q	-	1	0	DNAH3	20860246	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.746000	0.94184	0.655000	0.94253	CAG	DNAH3	-	pfam_Dynein_heavy_dom	ENSG00000158486		0.493	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0.00	72	0	G	NM_017539		20952745	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	10.42	43	5	SNP	1.000	T
DNAH5	1767	genome.wustl.edu	37	5	13751302	13751302	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:13751302G>T	ENST00000265104.4	-	65	11200	c.11096C>A	c.(11095-11097)cCt>cAt	p.P3699H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3699	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCTGGGTTAGGCAATTTGGT	0.403									Kartagener syndrome																																								0													173.0	158.0	163.0					5																	13751302		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11096C>A	5.37:g.13751302G>T	ENSP00000265104:p.Pro3699His		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.P3699H	ENST00000265104.4	37	c.11096	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286057	0.80803	.	.	ENSG00000039139	ENST00000265104	T	0.21543	2.0	5.74	4.87	0.63330	.	0.051930	0.85682	N	0.000000	T	0.63827	0.2544	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79862	-0.1624	10	0.87932	D	0	.	16.0997	0.81163	0.0:0.0:0.865:0.135	.	3699	Q8TE73	DYH5_HUMAN	H	3699	ENSP00000265104:P3699H	ENSP00000265104:P3699H	P	-	2	0	DNAH5	13804302	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.343000	0.97047	1.406000	0.46857	0.650000	0.86243	CCT	DNAH5	-	NULL	ENSG00000039139		0.403	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0.00	121	0	G	NM_001369		13751302	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	20.95	166	44	SNP	1.000	T
DNAH7	56171	genome.wustl.edu	37	2	196602560	196602560	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:196602560delA	ENST00000312428.6	-	0	12260				DNAH7_ENST00000409063.1_3'UTR|DNAH7_ENST00000484183.1_5'UTR	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTAAACAAACAAAAAAAAAGG	0.279																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.*85T>-	2.37:g.196602560delA			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	RNA	DEL	-	NULL	ENST00000312428.6	37	NULL	CCDS42794.1	2																																																																																			DNAH7	-	-	ENSG00000118997		0.279	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3		0.00	14	0	A	NM_018897		196602560	-1	tier1		no_errors	ENST00000484183	ensembl	human	putative	74_37	rna	31.58	13	6	DEL	0.001	-
DNAH9	1770	genome.wustl.edu	37	17	11738145	11738145	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:11738145G>T	ENST00000262442.4	+	49	9505	c.9437G>T	c.(9436-9438)tGt>tTt	p.C3146F	DNAH9_ENST00000454412.2_Missense_Mutation_p.C3146F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3146	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.C3146Y(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGAAGGACTGTGAGGAGGAC	0.547																																																	1	Substitution - Missense(1)	lung(1)											147.0	103.0	118.0					17																	11738145		2203	4300	6503	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9437G>T	17.37:g.11738145G>T	ENSP00000262442:p.Cys3146Phe		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.C3146F	ENST00000262442.4	37	c.9437	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340263	0.81911	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.81163	-1.46;-1.46	5.17	5.17	0.71159	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.93989	0.8075	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95957	0.8959	10	0.87932	D	0	.	18.8759	0.92334	0.0:0.0:1.0:0.0	.	3146	Q9NYC9	DYH9_HUMAN	F	3146;3146;1728	ENSP00000262442:C3146F;ENSP00000414874:C3146F	ENSP00000262442:C3146F	C	+	2	0	DNAH9	11678870	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.087000	0.71362	2.683000	0.91414	0.655000	0.94253	TGT	DNAH9	-	superfamily_P-loop_NTPase	ENSG00000007174		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2		0.00	26	0	G	NM_001372		11738145	+1			no_errors	ENST00000262442	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	T
DNAJA1	3301	genome.wustl.edu	37	9	33030485	33030485	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:33030485G>T	ENST00000330899.4	+	5	646	c.463G>T	c.(463-465)Ggt>Tgt	p.G155C	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_5'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	155					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		CAATTGCCGAGGTACTGGAAT	0.418																																																	0													77.0	68.0	71.0					9																	33030485		2203	4300	6503	SO:0001583	missense	0			L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.463G>T	9.37:g.33030485G>T	ENSP00000369127:p.Gly155Cys		Q5T7Q0|Q86TL9	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain	p.G155C	ENST00000330899.4	37	c.463	CCDS6533.1	9	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360861	0.82353	.	.	ENSG00000086061	ENST00000330899	T	0.58797	0.31	4.79	4.79	0.61399	HSP40/DnaJ peptide-binding (1);Heat shock protein DnaJ, cysteine-rich domain (4);	0.000000	0.85682	D	0.000000	D	0.87700	0.6243	H	0.99911	4.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93448	0.6799	10	0.87932	D	0	-9.8926	15.6808	0.77367	0.0:0.0:1.0:0.0	.	155;155	Q86TL9;P31689	.;DNJA1_HUMAN	C	155	ENSP00000369127:G155C	ENSP00000369127:G155C	G	+	1	0	DNAJA1	33020485	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.655000	0.98512	2.377000	0.81083	0.313000	0.20887	GGT	DNAJA1	-	pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,pfscan_HSP_DnaJ_Cys-rich_dom	ENSG00000086061		0.418	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA1	HGNC	protein_coding	OTTHUMT00000052031.1	-	0.00	25	0	G			33030485	+1	tier1	-	no_errors	ENST00000330899	ensembl	human	known	74_37	missense	34.88	28	15	SNP	1.000	T
DNAJA1	3301	genome.wustl.edu	37	9	33037063	33037063	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:33037063C>T	ENST00000330899.4	+	8	1108	c.925C>T	c.(925-927)Cca>Tca	p.P309S	DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Missense_Mutation_p.P152S	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	309					androgen receptor signaling pathway (GO:0030521)|DNA damage response, detection of DNA damage (GO:0042769)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of apoptotic process (GO:0043065)|protein folding (GO:0006457)|protein localization to mitochondrion (GO:0070585)|regulation of protein transport (GO:0051223)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasmic side of endoplasmic reticulum membrane (GO:0098554)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|G-protein coupled receptor binding (GO:0001664)|Hsp70 protein binding (GO:0030544)|low-density lipoprotein particle receptor binding (GO:0050750)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TGAAGGCATGCCAATTTATCG	0.348																																																	0													152.0	132.0	139.0					9																	33037063		2203	4300	6503	SO:0001583	missense	0			L08069	CCDS6533.1	9p13.3	2011-09-02			ENSG00000086061	ENSG00000086061		"""Heat shock proteins / DNAJ (HSP40)"""	5229	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 7"""	602837		HSJ2		8334160, 11147971	Standard	NM_001539		Approved	HSPF4, hdj-2, dj-2, NEDD7	uc003zsd.1	P31689	OTTHUMG00000019760	ENST00000330899.4:c.925C>T	9.37:g.33037063C>T	ENSP00000369127:p.Pro309Ser		Q5T7Q0|Q86TL9	Missense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain	p.P309S	ENST00000330899.4	37	c.925	CCDS6533.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.106419	0.94292	.	.	ENSG00000086061	ENST00000330899;ENST00000539152;ENST00000544625	T;T	0.57107	0.42;0.42	5.11	5.11	0.69529	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	T	0.78027	0.4219	H	0.95328	3.655	0.80722	D	1	D;D	0.54964	0.969;0.969	P;P	0.58577	0.687;0.841	D	0.84704	0.0730	10	0.62326	D	0.03	-3.2559	16.3954	0.83604	0.0:1.0:0.0:0.0	.	309;309	Q86TL9;P31689	.;DNJA1_HUMAN	S	309;152;152	ENSP00000369127:P309S;ENSP00000439010:P152S	ENSP00000369127:P309S	P	+	1	0	DNAJA1	33027063	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.757000	0.85209	2.552000	0.86080	0.591000	0.81541	CCA	DNAJA1	-	pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd	ENSG00000086061		0.348	DNAJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJA1	HGNC	protein_coding	OTTHUMT00000052031.1	-	0.00	76	0	C			33037063	+1	tier1	-	no_errors	ENST00000330899	ensembl	human	known	74_37	missense	10.29	61	7	SNP	1.000	T
DNAJB2	3300	genome.wustl.edu	37	2	220149370	220149370	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:220149370G>T	ENST00000336576.5	+	9	924	c.636G>T	c.(634-636)ctG>ctT	p.L212L	DNAJB2_ENST00000392086.4_Silent_p.L212L|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	212					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGATGACCTGGCACTGGGCT	0.627																																																	0													38.0	42.0	41.0					2																	220149370		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"""Heat shock proteins / DNAJ (HSP40)"""	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.636G>T	2.37:g.220149370G>T			A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Silent	SNP	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_domain,prints_DnaJ_domain	p.L212	ENST00000336576.5	37	c.636	CCDS2439.1	2																																																																																			DNAJB2	-	smart_Ubiquitin-int_motif	ENSG00000135924		0.627	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	DNAJB2	HGNC	protein_coding	OTTHUMT00000256823.2	-	0.00	80	0	G			220149370	+1	tier1	-	no_errors	ENST00000336576	ensembl	human	known	74_37	silent	6.45	58	4	SNP	1.000	T
DNAJC11	55735	genome.wustl.edu	37	1	6696231	6696231	+	Missense_Mutation	SNP	C	C	T	rs375527993		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:6696231C>T	ENST00000377577.5	-	15	1723	c.1600G>A	c.(1600-1602)Gtc>Atc	p.V534I	DNAJC11_ENST00000377573.5_Missense_Mutation_p.V444I|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Missense_Mutation_p.V496I|DNAJC11_ENST00000294401.7_Missense_Mutation_p.V482I	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	534						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGCAGGACGCCCCGGAAC	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		18092	0.0		0.001	False		,,,				2504	0.0																0								C	ILE/VAL	0,4406		0,0,2203	91.0	77.0	82.0		1600	5.5	0.9	1		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAJC11	NM_018198.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	534/560	6696231	1,13005	2203	4300	6503	SO:0001583	missense	0			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1600G>A	1.37:g.6696231C>T	ENSP00000366800:p.Val534Ile		Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.V534I	ENST00000377577.5	37	c.1600	CCDS87.1	1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349660	0.61183	0.0	1.16E-4	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	T;T;T;T	0.23348	2.51;2.51;2.23;1.91	5.52	5.52	0.82312	DnaJ-like protein C11, C-terminal (1);	0.066550	0.64402	D	0.000012	T	0.27866	0.0686	M	0.62723	1.935	0.58432	D	0.999993	P;B;P	0.44006	0.824;0.405;0.587	B;B;B	0.35413	0.202;0.027;0.08	T	0.07195	-1.0785	10	0.37606	T	0.19	-7.5235	18.4484	0.90695	0.0:1.0:0.0:0.0	.	444;482;534	B4DGD5;Q9NVH1-3;Q9NVH1	.;.;DJC11_HUMAN	I	534;482;496;444	ENSP00000366800:V534I;ENSP00000294401:V482I;ENSP00000444020:V496I;ENSP00000366796:V444I	ENSP00000294401:V482I	V	-	1	0	DNAJC11	6618818	1.000000	0.71417	0.947000	0.38551	0.987000	0.75469	7.298000	0.78815	2.590000	0.87494	0.655000	0.94253	GTC	DNAJC11	-	pfam_DnaJ-like_C11_C	ENSG00000007923		0.572	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC11	HGNC	protein_coding	OTTHUMT00000004216.3	-	0.00	42	0	C	NM_018198		6696231	-1	tier1	-	no_errors	ENST00000377577	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.999	T
DNAJC16	23341	genome.wustl.edu	37	1	15895341	15895341	+	3'UTR	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:15895341A>G	ENST00000375847.3	+	0	3182				DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Intron|RP4-680D5.8_ENST00000606186.1_RNA	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16						cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GAGGCTGAGCAGTGGCTGAAG	0.557																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.*669A>G	1.37:g.15895341A>G			Q68D57|Q86X32|Q8N5P4	RNA	SNP	-	NULL	ENST00000375847.3	37	NULL	CCDS30606.1	1																																																																																			DNAJC16	-	-	ENSG00000116138		0.557	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC16	HGNC	protein_coding	OTTHUMT00000006764.1	-	0.00	37	0	A	NM_015291		15895341	+1	tier1	-	no_errors	ENST00000483270	ensembl	human	known	74_37	rna	45.83	13	11	SNP	0.001	G
DNAJC21	134218	genome.wustl.edu	37	5	34949704	34949704	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:34949704delA	ENST00000342382.4	+	10	1412				DNAJC21_ENST00000303525.7_Intron|DNAJC21_ENST00000512136.1_Intron|DNAJC21_ENST00000382021.2_Frame_Shift_Del_p.G414fs			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21						protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			tggcttggggaaaaaagtgtg	0.438																																																	0													79.0	75.0	76.0					5																	34949704		2202	4299	6501	SO:0001627	intron_variant	0				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1186-571A>-	5.37:g.34949704delA			Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Frame_Shift_Del	DEL	pfam_DnaJ_domain,pfam_Znf_C2H2_jaz,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_domain,prints_DnaJ_domain	p.K416fs	ENST00000342382.4	37	c.1242	CCDS34144.1	5																																																																																			DNAJC21	-	NULL	ENSG00000168724		0.438	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC21	HGNC	protein_coding	OTTHUMT00000157337.1		0.00	109	0	A	NM_194283		34949704	+1	tier1		no_errors	ENST00000382021	ensembl	human	known	74_37	frame_shift_del	21.66	170	47	DEL	0.000	-
DNAJC27	51277	genome.wustl.edu	37	2	25180754	25180754	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:25180754C>T	ENST00000264711.2	-	4	519	c.330G>A	c.(328-330)tgG>tgA	p.W110*	DNAJC27_ENST00000468467.1_5'UTR|DNAJC27_ENST00000534855.1_Nonsense_Mutation_p.W39*	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	110					small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TTTCTGCCAGCCACGCATCAA	0.428																																																	0													117.0	107.0	110.0					2																	25180754		2203	4300	6503	SO:0001587	stop_gained	0				CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"""Heat shock proteins / DNAJ (HSP40)"""	30290	protein-coding gene	gene with protein product		613527	"""rab and DnaJ domain containing"""	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.330G>A	2.37:g.25180754C>T	ENSP00000264711:p.Trp110*		Q5JV88|Q86Y24	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_domain,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_DnaJ_domain,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_Small_GTPase,prints_DnaJ_domain,tigrfam_Small_GTP-bd_dom	p.W110*	ENST00000264711.2	37	c.330	CCDS1716.1	2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563491	0.86335	.	.	ENSG00000115137	ENST00000264711;ENST00000534855	.	.	.	5.27	5.27	0.74061	.	0.100173	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.749	17.6166	0.88069	0.0:1.0:0.0:0.0	.	.	.	.	X	110;39	.	ENSP00000264711:W110X	W	-	3	0	DNAJC27	25034258	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.550000	0.82173	2.750000	0.94351	0.563000	0.77884	TGG	DNAJC27	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000115137		0.428	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC27	HGNC	protein_coding	OTTHUMT00000246855.3	-	0.00	34	0	C	NM_016544		25180754	-1	tier1	-	no_errors	ENST00000264711	ensembl	human	known	74_37	nonsense	40.62	19	13	SNP	1.000	T
DNM1	1759	genome.wustl.edu	37	9	131013112	131013112	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:131013112delG	ENST00000372923.3	+	21	2519	c.2427delG	c.(2425-2427)ctgfs	p.L809fs	DNM1_ENST00000393594.3_Frame_Shift_Del_p.L809fs|DNM1_ENST00000475805.1_Frame_Shift_Del_p.L809fs|DNM1_ENST00000486160.1_Frame_Shift_Del_p.L809fs|DNM1_ENST00000341179.7_Frame_Shift_Del_p.L809fs	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	809				L -> M (in Ref. 3; AAH50279). {ECO:0000305}.	endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GGTCCGCCCTGGGGGGGGCGC	0.836																																					GBM(113;146 1575 2722 28670 29921)												0													1.0	1.0	1.0					9																	131013112		496	970	1466	SO:0001589	frameshift_variant	0			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.2427delG	9.37:g.131013112delG	ENSP00000362014:p.Leu809fs		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Frame_Shift_Del	DEL	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.A812fs	ENST00000372923.3	37	c.2427	CCDS6895.1	9																																																																																			DNM1	-	NULL	ENSG00000106976		0.836	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	HGNC	protein_coding	OTTHUMT00000054367.1		0.00	10	0	G	NM_004408		131013112	+1			no_errors	ENST00000372923	ensembl	human	known	74_37	frame_shift_del	30.00	7	3	DEL	1.000	0
DNM1	1759	genome.wustl.edu	37	9	131016963	131016963	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:131016963T>C	ENST00000372923.3	+	22	2657	c.2565T>C	c.(2563-2565)ccT>ccC	p.P855P	DNM1_ENST00000393594.3_3'UTR|DNM1_ENST00000486160.1_Silent_p.P855P|DNM1_ENST00000341179.7_3'UTR	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	855					endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CATCCCGTCCTGAGAGCCCCA	0.587																																					GBM(113;146 1575 2722 28670 29921)												0													71.0	79.0	76.0					9																	131016963		1376	2357	3733	SO:0001819	synonymous_variant	0			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.2565T>C	9.37:g.131016963T>C			A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF	p.P855	ENST00000372923.3	37	c.2565	CCDS6895.1	9																																																																																			DNM1	-	NULL	ENSG00000106976		0.587	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	HGNC	protein_coding	OTTHUMT00000054367.1	-	0.00	58	0	T	NM_004408		131016963	+1	tier1	-	no_errors	ENST00000372923	ensembl	human	known	74_37	silent	35.29	44	24	SNP	1.000	C
DNLZ	728489	genome.wustl.edu	37	9	139257455	139257455	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139257455G>T	ENST00000371738.3	-	2	428	c.354C>A	c.(352-354)gaC>gaA	p.D118E	DNLZ_ENST00000371739.3_Intron|CARD9_ENST00000460290.1_5'Flank	NM_001080849.1	NP_001074318.1	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	118						mitochondrion (GO:0005739)	zinc ion binding (GO:0008270)			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		TCCCATTCAGGTCCGAGAACC	0.612																																																	0													112.0	94.0	100.0					9																	139257455		2203	4300	6503	SO:0001583	missense	0			AL592301	CCDS35179.1	9q34.3	2013-01-10	2007-12-18	2007-12-18	ENSG00000213221	ENSG00000213221		"""Zinc fingers"""	33879	protein-coding gene	gene with protein product	"""translocase of inner mitochondrial membrane 15 homolog (yeast)"", ""HSP70 escort protein"""		"""chromosome 9 open reading frame 151"""	C9orf151		21530495, 22162012	Standard	NM_001080849		Approved	RP11-413M3.2, ZIM17, bA413M3.2, TIMM15, HEP	uc004chf.2	Q5SXM8	OTTHUMG00000020931	ENST00000371738.3:c.354C>A	9.37:g.139257455G>T	ENSP00000360803:p.Asp118Glu		B2RUX5|B9EJE1	Missense_Mutation	SNP	pfam_Znf_DNL-typ	p.D118E	ENST00000371738.3	37	c.354	CCDS35179.1	9	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365480	0.41902	.	.	ENSG00000213221	ENST00000371738	T	0.35048	1.33	5.06	2.2	0.27929	Zinc finger, DNL-type (2);	0.000000	0.85682	U	0.000000	T	0.41166	0.1147	L	0.52266	1.64	0.80722	D	1	P	0.38223	0.623	P	0.53549	0.729	T	0.19844	-1.0293	10	0.09338	T	0.73	-28.7575	8.9807	0.35964	0.2432:0.0:0.7568:0.0	.	118	Q5SXM8	DNLZ_HUMAN	E	118	ENSP00000360803:D118E	ENSP00000360803:D118E	D	-	3	2	DNLZ	138377276	1.000000	0.71417	0.994000	0.49952	0.113000	0.19764	1.103000	0.31062	0.533000	0.28675	0.462000	0.41574	GAC	DNLZ	-	pfam_Znf_DNL-typ	ENSG00000213221		0.612	DNLZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNLZ	HGNC	protein_coding	OTTHUMT00000055075.2	-	0.00	74	0	G	NM_001080849		139257455	-1	tier1	-	no_errors	ENST00000371738	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
DNM1P46	196968	genome.wustl.edu	37	15	100330968	100330969	+	RNA	DEL	AC	AC	-	rs200716088		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:100330968_100330969delAC	ENST00000341853.1	-	0	3222_3223				RN7SL484P_ENST00000462651.2_RNA|AC090825.1_ENST00000408584.1_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										acacatagatacacacacacac	0.386																																																	0										221,85,1470		69,5,78,5,70,661						-0.2	0.0		dbSNP_134	4	373,223,3190		85,7,196,8,200,1397	no	intergenic				154,12,274,13,270,2058	A1A1,A1A2,A1R,A2A2,A2R,RR		15.7422,17.2297,16.2172				594,308,4660						0			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100330978_100330979delAC			Q3ZCN3	RNA	DEL	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			DNM1P46	-	-	ENSG00000182397		0.386	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	HGNC	pseudogene	OTTHUMT00000313543.1		0.00	16	0	AC	NR_003260		100330969	-1	tier1		no_errors	ENST00000341853	ensembl	human	known	74_37	rna	35.29	11	6	DEL	0.008:0.009	-
DNM1P51	0	genome.wustl.edu	37	15	84953251	84953251	+	RNA	SNP	T	T	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:84953251T>A	ENST00000558801.1	-	0	8514									DNM1 pseudogene 51																		CTGAAGGAAATCCACACACCC	0.542																																																	0																																												0					15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84953251T>A				RNA	SNP	-	NULL	ENST00000558801.1	37	NULL		15																																																																																			DNM1P51	-	-	ENSG00000235370		0.542	DNM1P51-001	KNOWN	basic	processed_transcript	DNM1P51	HGNC	pseudogene	OTTHUMT00000471721.1	-	0.00	50	0	T			84953251	-1	tier1	-	no_errors	ENST00000558801	ensembl	human	known	74_37	rna	32.00	34	16	SNP	0.055	A
CSPG4P5	114817	genome.wustl.edu	37	15	84957359	84957359	+	RNA	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:84957359T>C	ENST00000558801.1	-	0	7370									DNM1 pseudogene 51																		CCAGCTGGTCTCTTCTGATCT	0.597																																																	0																																												0					15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84957359T>C				RNA	SNP	-	NULL	ENST00000558801.1	37	NULL		15																																																																																			DNM1P51	-	-	ENSG00000235370		0.597	DNM1P51-001	KNOWN	basic	processed_transcript	DNM1P51	HGNC	pseudogene	OTTHUMT00000471721.1	-	0.00	205	0	T			84957359	-1	tier1	-	no_errors	ENST00000558801	ensembl	human	known	74_37	rna	20.00	108	27	SNP	0.953	C
CSPG4P5	114817	genome.wustl.edu	37	15	84957408	84957409	+	RNA	DNP	CA	CA	TG	rs571348878|rs539629488	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:84957408_84957409CA>TG	ENST00000558801.1	-	0	7320_7321									DNM1 pseudogene 51																		CTTCTTGTGCCAGGCCAGCTTC	0.589																																																	0																																												0					15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438	Exception_encountered	15.37:g.84957408_84957409delinsTG				RNA	SNP	-	NULL	ENST00000558801.1	37	NULL		15																																																																																			DNM1P51	-	-	ENSG00000235370		0.589	DNM1P51-001	KNOWN	basic	processed_transcript	DNM1P51	HGNC	pseudogene	OTTHUMT00000471721.1	-	0.00	251	0	C|A			84957408|84957409	-1	tier1	-	no_errors	ENST00000558801	ensembl	human	known	74_37	rna	17.31|18.24	129|130	27|29	SNP	0.868|0.867	T|G
CSPG4P5	114817	genome.wustl.edu	37	15	84957430	84957430	+	RNA	SNP	G	G	C	rs531278386		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:84957430G>C	ENST00000558801.1	-	0	7299									DNM1 pseudogene 51																		AGTGGGGCTAGTGGGCCCTCT	0.582																																																	0																																												0					15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84957430G>C				RNA	SNP	-	NULL	ENST00000558801.1	37	NULL		15																																																																																			DNM1P51	-	-	ENSG00000235370		0.582	DNM1P51-001	KNOWN	basic	processed_transcript	DNM1P51	HGNC	pseudogene	OTTHUMT00000471721.1	-	0.00	270	0	G			84957430	-1	tier1	-	no_errors	ENST00000558801	ensembl	human	known	74_37	rna	31.31	136	62	SNP	0.977	C
DNMT3A	1788	genome.wustl.edu	37	2	25505431	25505431	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:25505431delC	ENST00000264709.3	-	4	664	c.327delG	c.(325-327)gggfs	p.G109fs	DNMT3A_ENST00000406659.3_Frame_Shift_Del_p.G109fs|DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.G109fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	109					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.Q110fs*14(2)|p.Q110fs*52(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCCCTTCTGCCCCCCAGCAG	0.657			"""Mis, F, N, S"""		AML																																			Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	3	Insertion - Frameshift(2)|Deletion - Frameshift(1)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)											30.0	36.0	34.0					2																	25505431		2202	4299	6501	SO:0001589	frameshift_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.327delG	2.37:g.25505431delC	ENSP00000264709:p.Gly109fs		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Del	DEL	pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.Q110fs	ENST00000264709.3	37	c.327	CCDS33157.1	2																																																																																			DNMT3A	-	NULL	ENSG00000119772		0.657	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1		0.00	49	0	C	NM_022552		25505431	-1	tier1		no_errors	ENST00000264709	ensembl	human	known	74_37	frame_shift_del	28.95	27	11	DEL	0.978	-
DNMT3B	1789	genome.wustl.edu	37	20	31384650	31384651	+	Frame_Shift_Ins	INS	-	-	G	rs200912653		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:31384650_31384651insG	ENST00000328111.2	+	13	1673_1674	c.1352_1353insG	c.(1351-1356)gaggggfs	p.EG451fs	DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.EG355fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.EG443fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.EG431fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.EG389fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.EG431fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	451	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTCTTTGAGGGGGGGCTCT	0.559																																																	0																																										SO:0001589	frameshift_variant	0				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1359dupG	20.37:g.31384657_31384657dupG	ENSP00000328547:p.Glu451fs		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Frame_Shift_Ins	INS	pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom	p.L454fs	ENST00000328111.2	37	c.1352_1353	CCDS13205.1	20																																																																																			DNMT3B	-	NULL	ENSG00000088305		0.559	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMT3B	HGNC	protein_coding	OTTHUMT00000078643.2		0.00	52	0	-	NM_006892		31384651	+1	tier1		no_errors	ENST00000328111	ensembl	human	known	74_37	frame_shift_ins	38.89	33	21	INS	1.000:1.000	G
DNMT3L	29947	genome.wustl.edu	37	21	45666415	45666417	+	In_Frame_Del	DEL	TTC	TTC	-	rs145889034		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTC	TTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:45666415_45666417delTTC	ENST00000418993.1	-	12	1507_1509	c.1024_1026delGAA	c.(1024-1026)gaadel	p.E342del	DNMT3L_ENST00000270172.3_In_Frame_Del_p.E343del	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	342					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		GCAGGGACAATTCTTCTTCCGAA	0.601																																																	0									,	2,4262		0,2,2130					,	-8.3	0.0		dbSNP_134	38	2,8250		0,2,4124	no	coding,coding	DNMT3L	NM_175867.1,NM_013369.2	,	0,4,6254	A1A1,A1R,RR		0.0242,0.0469,0.032	,	,		4,12512				SO:0001651	inframe_deletion	0			AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.1024_1026delGAA	21.37:g.45666421_45666423delTTC	ENSP00000412862:p.Glu342del		E9PB42|Q9BUJ4	In_Frame_Del	DEL	superfamily_Znf_FYVE_PHD	p.E343in_frame_del	ENST00000418993.1	37	c.1029_1027	CCDS46650.1	21																																																																																			DNMT3L	-	NULL	ENSG00000142182		0.601	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	DNMT3L	HGNC	protein_coding	OTTHUMT00000195820.1		0.00	57	0	TTC	NM_013369		45666417	-1	tier1		no_errors	ENST00000270172	ensembl	human	known	74_37	in_frame_del	29.85	47	20	DEL	0.000:0.000:0.001	-
DOC2A	8448	genome.wustl.edu	37	16	30021446	30021446	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:30021446G>T	ENST00000350119.4	-	2	288	c.98C>A	c.(97-99)tCt>tAt	p.S33Y	DOC2A_ENST00000564979.1_Missense_Mutation_p.S33Y|DOC2A_ENST00000564944.1_Missense_Mutation_p.S33Y|DOC2A_ENST00000567824.1_5'Flank	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	33	Interaction with UNC13D and DYNLT1.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						GAAGTAGTCAGAGATCTGGCG	0.716																																																	0													29.0	33.0	32.0					16																	30021446		2185	4282	6467	SO:0001583	missense	0			D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"""Synaptotagmins"""	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.98C>A	16.37:g.30021446G>T	ENSP00000340017:p.Ser33Tyr		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.S33Y	ENST00000350119.4	37	c.98	CCDS10666.1	16	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834828	0.91036	.	.	ENSG00000149927	ENST00000350119	D	0.92595	-3.07	4.28	4.28	0.50868	.	0.000000	0.39146	N	0.001458	D	0.92873	0.7733	L	0.29908	0.895	0.52501	D	0.999958	D	0.76494	0.999	D	0.81914	0.995	D	0.93799	0.7099	10	0.87932	D	0	.	14.273	0.66162	0.0:0.0:1.0:0.0	.	33	Q14183	DOC2A_HUMAN	Y	33	ENSP00000340017:S33Y	ENSP00000340017:S33Y	S	-	2	0	DOC2A	29928947	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	8.516000	0.90552	2.223000	0.72356	0.561000	0.74099	TCT	DOC2A	-	pirsf_Doc2	ENSG00000149927		0.716	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOC2A	HGNC	protein_coding	OTTHUMT00000255148.2	-	0.00	48	0	G	NM_003586		30021446	-1	tier1	-	no_errors	ENST00000350119	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	T
DOCK10	55619	genome.wustl.edu	37	2	225781494	225781494	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:225781494G>T	ENST00000258390.7	-	3	318	c.251C>A	c.(250-252)aCa>aAa	p.T84K	DOCK10_ENST00000474102.1_5'UTR|DOCK10_ENST00000409592.3_Missense_Mutation_p.T78K	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	84					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCAGGAAACTGTGGCTGCCTG	0.448																																																	0													71.0	68.0	69.0					2																	225781494		1953	4155	6108	SO:0001583	missense	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.251C>A	2.37:g.225781494G>T	ENSP00000258390:p.Thr84Lys		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T84K	ENST00000258390.7	37	c.251	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	G	14.56	2.570612	0.45798	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.47177	0.85;0.85	5.45	5.45	0.79879	.	0.051947	0.85682	D	0.000000	T	0.53417	0.1795	M	0.68593	2.085	0.39944	D	0.974457	P;P;P	0.44195	0.571;0.828;0.571	B;P;B	0.45232	0.243;0.474;0.403	T	0.57195	-0.7853	10	0.42905	T	0.14	.	16.2746	0.82638	0.0:0.0:1.0:0.0	.	84;84;78	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	K	78;84	ENSP00000386694:T78K;ENSP00000258390:T84K	ENSP00000258390:T84K	T	-	2	0	DOCK10	225489738	0.999000	0.42202	0.970000	0.41538	0.519000	0.34347	3.292000	0.51772	2.588000	0.87417	0.539000	0.68188	ACA	DOCK10	-	pfam_DOCK_C/D_N	ENSG00000135905		0.448	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	-	0.00	60	0	G			225781494	-1	tier1	-	no_errors	ENST00000258390	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.994	T
DOCK3	1795	genome.wustl.edu	37	3	51352461	51352461	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:51352461G>T	ENST00000266037.9	+	32	3327	c.3304G>T	c.(3304-3306)Gtg>Ttg	p.V1102L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1102					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTTCTGGGTGTGACACTGGT	0.433																																																	0													67.0	68.0	68.0					3																	51352461		1904	4106	6010	SO:0001583	missense	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3304G>T	3.37:g.51352461G>T	ENSP00000266037:p.Val1102Leu		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.V1102L	ENST00000266037.9	37	c.3304	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.410581	0.96072	.	.	ENSG00000088538	ENST00000266037	T	0.24723	1.84	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	L	0.60455	1.87	0.80722	D	1	P	0.50066	0.931	P	0.52031	0.688	T	0.06954	-1.0798	10	0.06625	T	0.88	.	20.3396	0.98756	0.0:0.0:1.0:0.0	.	1102	Q8IZD9	DOCK3_HUMAN	L	1102	ENSP00000266037:V1102L	ENSP00000266037:V1102L	V	+	1	0	DOCK3	51327501	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.790000	0.99075	2.812000	0.96745	0.555000	0.69702	GTG	DOCK3	-	superfamily_ARM-type_fold	ENSG00000088538		0.433	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0.00	44	0	G	NM_004947		51352461	+1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
DOCK3	1795	genome.wustl.edu	37	3	51417604	51417604	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:51417604delC	ENST00000266037.9	+	52	5572	c.5549delC	c.(5548-5550)accfs	p.T1850fs		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1850					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.P1852fs*45(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTGGGTGATACCCCCCCAGCC	0.597																																																	1	Deletion - Frameshift(1)	large_intestine(1)											83.0	84.0	84.0					3																	51417604		1912	4118	6030	SO:0001589	frameshift_variant	0			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5549delC	3.37:g.51417604delC	ENSP00000266037:p.Thr1850fs		O15017	Frame_Shift_Del	DEL	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.P1852fs	ENST00000266037.9	37	c.5549	CCDS46835.1	3																																																																																			DOCK3	-	NULL	ENSG00000088538		0.597	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5		0.00	63	0	C	NM_004947		51417604	+1	tier1		no_errors	ENST00000266037	ensembl	human	known	74_37	frame_shift_del	47.46	31	28	DEL	0.115	-
DOCK5	80005	genome.wustl.edu	37	8	25230154	25230154	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:25230154G>T	ENST00000276440.7	+	35	3648	c.3604G>T	c.(3604-3606)Gag>Tag	p.E1202*		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1202					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGCCTCTTAGAGAACCTGCT	0.547																																					Pancreas(145;34 1887 3271 10937 30165)												0													85.0	74.0	78.0					8																	25230154		2203	4300	6503	SO:0001587	stop_gained	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3604G>T	8.37:g.25230154G>T	ENSP00000276440:p.Glu1202*		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Nonsense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.E1202*	ENST00000276440.7	37	c.3604	CCDS6047.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	43|43	10.172091|10.172091	0.99352|0.99352	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76528	.|0.4000	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74914	.|-0.3502	.|3	0.62326|.	D|.	0.03|.	.|.	19.5183|19.5183	0.95174|0.95174	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1202|973	.|.	ENSP00000276440:E1202X|.	E|R	+|+	1|2	0|0	DOCK5|DOCK5	25286071|25286071	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.921000|0.921000	0.55340|0.55340	9.869000|9.869000	0.99810|0.99810	2.633000|2.633000	0.89246|0.89246	0.655000|0.655000	0.94253|0.94253	GAG|AGA	DOCK5	-	superfamily_ARM-type_fold	ENSG00000147459		0.547	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	-	0.00	68	0	G	NM_024940		25230154	+1	tier1	-	no_errors	ENST00000276440	ensembl	human	known	74_37	nonsense	5.19	73	4	SNP	1.000	T
DOCK5	80005	genome.wustl.edu	37	8	25240190	25240190	+	Splice_Site	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:25240190delA	ENST00000276440.7	+	40	4071	c.4027delA	c.(4027-4029)aaa>aa	p.K1344fs		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1344	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGTTTTCCAGAAAAAAAGGGC	0.408																																					Pancreas(145;34 1887 3271 10937 30165)												0													85.0	80.0	82.0					8																	25240190		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4027-1A>-	8.37:g.25240190delA			B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Frame_Shift_Del	DEL	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R1345fs	ENST00000276440.7	37	c.4027	CCDS6047.1	8																																																																																			DOCK5	-	NULL	ENSG00000147459		0.408	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2		0.00	47	0	A	NM_024940	Frame_Shift_Del	25240190	+1	tier1		no_errors	ENST00000276440	ensembl	human	known	74_37	frame_shift_del	33.85	43	22	DEL	1.000	-
DOCK7	85440	genome.wustl.edu	37	1	62941104	62941104	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:62941104delA	ENST00000340370.5	-	46	5886				DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000489185.1_Intron	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7						activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTGAAATTAGAAAAAAAAAAG	0.259																																																	0																																										SO:0001627	intron_variant	0				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5869-82T>-	1.37:g.62941104delA			Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	RNA	DEL	-	NULL	ENST00000340370.5	37	NULL	CCDS30734.1	1																																																																																			DOCK7	-	-	ENSG00000116641		0.259	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1		0.00	13	0	A	NM_033407		62941104	-1	tier1		no_errors	ENST00000467758	ensembl	human	known	74_37	rna	72.22	5	13	DEL	0.057	-
DOCK9	23348	genome.wustl.edu	37	13	99502312	99502312	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:99502312delA	ENST00000376460.1	-	36	4082	c.4002delT	c.(4000-4002)tttfs	p.F1334fs	DOCK9_ENST00000448493.2_Frame_Shift_Del_p.F1346fs|DOCK9_ENST00000339416.2_Frame_Shift_Del_p.F1335fs	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1335					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGATATTGTAAAAAAATCCA	0.318																																																	0													79.0	79.0	79.0					13																	99502312		1818	4064	5882	SO:0001589	frameshift_variant	0			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.4002delT	13.37:g.99502312delA	ENSP00000365643:p.Phe1334fs		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Frame_Shift_Del	DEL	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F1335fs	ENST00000376460.1	37	c.4005	CCDS45062.1	13																																																																																			DOCK9	-	superfamily_ARM-type_fold	ENSG00000088387		0.318	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1		0.00	27	0	A	NM_015296		99502312	-1	tier1		no_errors	ENST00000339416	ensembl	human	known	74_37	frame_shift_del	20.69	46	12	DEL	1.000	-
DOK6	220164	genome.wustl.edu	37	18	67345063	67345063	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:67345063C>T	ENST00000382713.5	+	4	573	c.383C>T	c.(382-384)gCc>gTc	p.A128V	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	128										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GACCTTCTGGCCGCAGGAGTG	0.532																																																	0													79.0	72.0	75.0					18																	67345063		2203	4300	6503	SO:0001583	missense	0			AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.383C>T	18.37:g.67345063C>T	ENSP00000372160:p.Ala128Val		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.A128V	ENST00000382713.5	37	c.383	CCDS32841.1	18	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240669	0.58995	.	.	ENSG00000206052	ENST00000382713	T	0.80653	-1.4	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.77758	0.4178	M	0.62723	1.935	0.80722	D	1	B	0.27971	0.196	B	0.27170	0.077	T	0.71951	-0.4437	10	0.17369	T	0.5	-6.7249	16.9217	0.86166	0.0:1.0:0.0:0.0	.	128	Q6PKX4	DOK6_HUMAN	V	128	ENSP00000372160:A128V	ENSP00000372160:A128V	A	+	2	0	DOK6	65496043	1.000000	0.71417	0.974000	0.42286	0.893000	0.52053	7.322000	0.79097	2.937000	0.99478	0.650000	0.86243	GCC	DOK6	-	NULL	ENSG00000206052		0.532	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK6	HGNC	protein_coding	OTTHUMT00000442969.1	-	0.00	80	0	C	NM_152721		67345063	+1	tier1	-	no_errors	ENST00000382713	ensembl	human	known	74_37	missense	40.86	54	38	SNP	1.000	T
DOT1L	84444	genome.wustl.edu	37	19	2226760	2226760	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:2226760C>T	ENST00000398665.3	+	27	4276	c.4240C>T	c.(4240-4242)Cgg>Tgg	p.R1414W		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1414					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCAAGGCCCGGGACCGCGA	0.741																																																	0													12.0	19.0	17.0					19																	2226760		1968	4130	6098	SO:0001583	missense	0			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.4240C>T	19.37:g.2226760C>T	ENSP00000381657:p.Arg1414Trp		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.R1414W	ENST00000398665.3	37	c.4240	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144440	0.57044	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590	T;T	0.46063	1.3;0.88	4.42	4.42	0.53409	.	0.000000	0.46145	D	0.000310	T	0.55862	0.1947	M	0.62723	1.935	0.30735	N	0.746762	D;D	0.89917	0.999;1.0	D;D	0.83275	0.93;0.996	T	0.60146	-0.7320	10	0.87932	D	0	-22.9476	5.8428	0.18643	0.2076:0.6918:0.0:0.1005	.	1414;1414	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	W	1414;1414;294	ENSP00000381657:R1414W;ENSP00000407411:R294W	ENSP00000221482:R1414W	R	+	1	2	DOT1L	2177760	1.000000	0.71417	0.891000	0.34965	0.488000	0.33401	2.116000	0.41930	2.003000	0.58678	0.561000	0.74099	CGG	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.741	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1		0.00	18	0	C	NM_032482		2226760	+1			no_errors	ENST00000398665	ensembl	human	known	74_37	missense	38.46	8	5	SNP	0.989	T
DPAGT1	1798	genome.wustl.edu	37	11	118969143	118969143	+	Frame_Shift_Del	DEL	A	A	-	rs35482889		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:118969143delA	ENST00000409993.2	-	7	2249	c.698delT	c.(697-699)ttcfs	p.F233fs	H2AFX_ENST00000530167.1_5'Flank|DPAGT1_ENST00000432443.2_Frame_Shift_Del_p.F126fs|DPAGT1_ENST00000445653.1_5'Flank|DPAGT1_ENST00000354202.4_Frame_Shift_Del_p.F233fs			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	233					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)	p.?(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CAAAGTGGTGAAAAAAAAGGG	0.438																																																	1	Unknown(1)	skin(1)											197.0	180.0	186.0					11																	118969143		2200	4295	6495	SO:0001589	frameshift_variant	0			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.698delT	11.37:g.118969143delA	ENSP00000386597:p.Phe233fs		O15216|Q86WV9|Q9BWE6	Frame_Shift_Del	DEL	pfam_Glycosyl_transferase_4	p.F233fs	ENST00000409993.2	37	c.698	CCDS8411.1	11																																																																																			DPAGT1	-	pfam_Glycosyl_transferase_4	ENSG00000172269		0.438	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPAGT1	HGNC	protein_coding	OTTHUMT00000331527.2		0.00	47	0	A	NM_001382		118969143	-1	tier1		no_errors	ENST00000354202	ensembl	human	known	74_37	frame_shift_del	32.14	38	18	DEL	1.000	-
DPH2	1802	genome.wustl.edu	37	1	44435689	44435689	+	5'UTR	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:44435689A>G	ENST00000255108.3	+	0	14				DPH2_ENST00000396758.2_5'Flank|DPH2_ENST00000412950.2_5'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				AACAGTAGTTAGGATGGCTGA	0.557																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.-159A>G	1.37:g.44435689A>G			A8MVC9|B2RDE3|B4DNI8|O60623	RNA	SNP	-	NULL	ENST00000255108.3	37	NULL	CCDS504.1	1																																																																																			DPH2	-	-	ENSG00000132768		0.557	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH2	HGNC	protein_coding	OTTHUMT00000022832.1	-	0.00	30	0	A	NM_001384		44435689	+1	tier1	-	no_errors	ENST00000471934	ensembl	human	known	74_37	rna	44.44	15	12	SNP	0.000	G
DPP7	29952	genome.wustl.edu	37	9	140006327	140006327	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:140006327delC	ENST00000371579.2	-	10	1209	c.1205delG	c.(1204-1206)ggtfs	p.G402fs		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	402						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.D403fs*1(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		AGCCTTACCACCCCCCCAGAA	0.706																																																	1	Insertion - Frameshift(1)	large_intestine(1)											23.0	30.0	28.0					9																	140006327		2200	4298	6498	SO:0001589	frameshift_variant	0			AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"""dipeptidylpeptidase 7"""			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.1205delG	9.37:g.140006327delC	ENSP00000360635:p.Gly402fs		A8K7U7|Q5VSF1|Q969X4	Frame_Shift_Del	DEL	pfam_Peptidase_S28,pfam_AB_hydrolase_1	p.G402fs	ENST00000371579.2	37	c.1205	CCDS7030.1	9																																																																																			DPP7	-	pfam_Peptidase_S28	ENSG00000176978		0.706	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP7	HGNC	protein_coding	OTTHUMT00000055279.1		0.00	43	0	C	NM_013379		140006327	-1	tier1		no_errors	ENST00000371579	ensembl	human	known	74_37	frame_shift_del	47.62	11	10	DEL	0.000	-
DPY19L2	283417	genome.wustl.edu	37	12	64062105	64062105	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:64062105G>A	ENST00000324472.4	-	1	252	c.69C>T	c.(67-69)cgC>cgT	p.R23R	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	23					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GGGAGGCCCCGCGCCGCCCCT	0.622																																																	0													15.0	21.0	19.0					12																	64062105		2179	4284	6463	SO:0001819	synonymous_variant	0				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.69C>T	12.37:g.64062105G>A			A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Silent	SNP	pfam_Dpy-19	p.R23	ENST00000324472.4	37	c.69	CCDS31851.1	12																																																																																			DPY19L2	-	NULL	ENSG00000177990		0.622	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L2	HGNC	protein_coding	OTTHUMT00000400689.2	-	0.00	53	0	G	NM_173812		64062105	-1	tier1	-	no_errors	ENST00000324472	ensembl	human	known	74_37	silent	55.56	16	20	SNP	0.839	A
DPY19L2P1	554236	genome.wustl.edu	37	7	35131548	35131548	+	RNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:35131548G>A	ENST00000436258.1	-	0	1821							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TGGCACCTGCGAAGACAGCAT	0.388																																																	0																																												0			BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131548G>A			B4E2E3	RNA	SNP	-	NULL	ENST00000436258.1	37	NULL		7																																																																																			DPY19L2P1	-	-	ENSG00000189212		0.388	DPY19L2P1-002	KNOWN	basic	processed_transcript	DPY19L2P1	HGNC	pseudogene	OTTHUMT00000338113.1	-	0.00	87	0	G			35131548	-1	tier1	-	no_errors	ENST00000436258	ensembl	human	known	74_37	rna	23.19	53	16	SNP	0.985	A
DSC1	1823	genome.wustl.edu	37	18	28711575	28711575	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:28711575G>T	ENST00000257198.5	-	15	2730	c.2469C>A	c.(2467-2469)acC>acA	p.T823T	RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Silent_p.T823T	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	823					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCCGAGGTTGGGTGAAACTCT	0.463																																																	0													145.0	117.0	127.0					18																	28711575		2203	4300	6503	SO:0001819	synonymous_variant	0			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2469C>A	18.37:g.28711575G>T			Q9HB01	Silent	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin/Desmocollin,prints_Cadherin,prints_Desmosomal_cadherin	p.T823	ENST00000257198.5	37	c.2469	CCDS11894.1	18																																																																																			DSC1	-	pfam_Cadherin_cytoplasmic-dom,prints_Cadherin/Desmocollin	ENSG00000134765		0.463	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSC1	HGNC	protein_coding	OTTHUMT00000254946.1	-	0.00	94	0	G	NM_004948, NM_024421		28711575	-1	tier1	-	no_errors	ENST00000257198	ensembl	human	known	74_37	silent	41.35	61	43	SNP	0.970	T
DSG4	147409	genome.wustl.edu	37	18	28993367	28993367	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:28993367A>C	ENST00000308128.4	+	16	3067	c.2932A>C	c.(2932-2934)Agc>Cgc	p.S978R	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.S997R|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	978					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCCTGACATGAGCAATAGTAG	0.438																																																	0													176.0	162.0	166.0					18																	28993367		2203	4300	6503	SO:0001583	missense	0			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2932A>C	18.37:g.28993367A>C	ENSP00000311859:p.Ser978Arg		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.S997R	ENST00000308128.4	37	c.2989	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	A	8.380	0.837214	0.16891	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.63580	0.08;-0.05	5.56	3.17	0.36434	.	0.808495	0.10444	N	0.673877	T	0.46288	0.1385	N	0.17800	0.525	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.15870	0.014;0.005	T	0.38672	-0.9650	10	0.59425	D	0.04	.	7.5413	0.27740	0.7477:0.0:0.2523:0.0	.	997;978	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	R	978;997	ENSP00000311859:S978R;ENSP00000352785:S997R	ENSP00000311859:S978R	S	+	1	0	DSG4	27247365	0.087000	0.21565	0.005000	0.12908	0.767000	0.43475	1.750000	0.38329	0.395000	0.25257	0.482000	0.46254	AGC	DSG4	-	NULL	ENSG00000175065		0.438	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	HGNC	protein_coding	OTTHUMT00000254941.1	-	0.00	71	0	A	NM_177986		28993367	+1	tier1	-	no_errors	ENST00000359747	ensembl	human	known	74_37	missense	39.29	51	33	SNP	0.004	C
DST	667	genome.wustl.edu	37	6	56473882	56473882	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:56473882C>T	ENST00000361203.3	-	36	4918	c.4911G>A	c.(4909-4911)gcG>gcA	p.A1637A	DST_ENST00000312431.6_Silent_p.A1637A|DST_ENST00000370769.4_Silent_p.A1637A|DST_ENST00000446842.2_Silent_p.A1311A|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Silent_p.A1815A|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	1637					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGGTAGGTGACGCAGCAGAAA	0.413																																																	0													250.0	242.0	244.0					6																	56473882		1905	4132	6037	SO:0001819	synonymous_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4911G>A	6.37:g.56473882C>T			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.A1815	ENST00000361203.3	37	c.5445		6																																																																																			DST	-	superfamily_ABC1_TM_dom	ENSG00000151914		0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	-	0.00	44	0	C	NM_001723		56473882	-1	tier1	-	no_errors	ENST00000370754	ensembl	human	known	74_37	silent	47.27	29	26	SNP	0.000	T
BEND6	221336	genome.wustl.edu	37	6	56819248	56819248	+	5'Flank	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:56819248delC	ENST00000370746.3	+	0	0				BEND6_ENST00000370750.2_5'Flank|DST_ENST00000370754.5_Frame_Shift_Del_p.R46fs|BEND6_ENST00000370745.1_5'Flank|BEND6_ENST00000370748.3_5'Flank	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TCATCGGATGCCTCCCTTTCT	0.562																																																	0													41.0	42.0	42.0					6																	56819248		1568	3582	5150	SO:0001631	upstream_gene_variant	0			AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914		6.37:g.56819248delC	Exception_encountered		Q4G0W8|Q8N662|Q96NS6	Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.R46fs	ENST00000370746.3	37	c.138	CCDS43476.1	6																																																																																			DST	-	superfamily_ABC1_TM_dom	ENSG00000151914		0.562	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041032.4		0.00	82	0	C	NM_152731		56819248	-1	tier1		no_errors	ENST00000370754	ensembl	human	known	74_37	frame_shift_del	24.59	46	15	DEL	1.000	-
DSTYK	25778	genome.wustl.edu	37	1	205117339	205117339	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:205117339G>A	ENST00000367162.3	-	12	2626	c.2596C>T	c.(2596-2598)Cgg>Tgg	p.R866W	DSTYK_ENST00000367160.4_Missense_Mutation_p.R525W|DSTYK_ENST00000367161.3_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	866	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TTACCCCTCCGCACATTGTTC	0.532																																																	0													166.0	139.0	148.0					1																	205117339		2203	4300	6503	SO:0001583	missense	0			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2596C>T	1.37:g.205117339G>A	ENSP00000356130:p.Arg866Trp		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R866W	ENST00000367162.3	37	c.2596	CCDS1451.1	1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724965	0.68959	.	.	ENSG00000133059	ENST00000367160;ENST00000367162	T;T	0.66638	-0.22;-0.22	5.85	2.83	0.33086	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.100416	0.64402	D	0.000003	T	0.79358	0.4432	M	0.72353	2.195	0.24479	N	0.994352	D	0.76494	0.999	D	0.70016	0.967	T	0.73685	-0.3905	10	0.54805	T	0.06	-23.7481	15.187	0.73009	0.0:0.0:0.4421:0.5579	.	866	Q6XUX3	DUSTY_HUMAN	W	525;866	ENSP00000356128:R525W;ENSP00000356130:R866W	ENSP00000356128:R525W	R	-	1	2	DSTYK	203383962	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	2.833000	0.48159	0.327000	0.23409	0.655000	0.94253	CGG	DSTYK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000133059		0.532	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTYK	HGNC	protein_coding	OTTHUMT00000090345.1	-	0.00	29	0	G	NM_015375		205117339	-1	tier1	-	no_errors	ENST00000367162	ensembl	human	known	74_37	missense	20.75	42	11	SNP	0.999	A
DTL	51514	genome.wustl.edu	37	1	212254045	212254045	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:212254045C>T	ENST00000366991.4	+	13	1528	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.T363M	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	405					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AAACTTTCCACGGTGGGTTGG	0.423																																																	0													129.0	141.0	137.0					1																	212254045		2203	4300	6503	SO:0001583	missense	0			AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1214C>T	1.37:g.212254045C>T	ENSP00000355958:p.Thr405Met		A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T405M	ENST00000366991.4	37	c.1214	CCDS1502.1	1	.	.	.	.	.	.	.	.	.	.	c	8.030	0.761595	0.15914	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.72394	-0.58;-0.65	5.27	1.66	0.24008	.	0.833125	0.11023	N	0.608177	T	0.49847	0.1581	N	0.14661	0.345	0.09310	N	1	B;B;B	0.33345	0.409;0.003;0.286	B;B;B	0.28638	0.092;0.002;0.042	T	0.20840	-1.0263	10	0.34782	T	0.22	-36.3814	9.593	0.39557	0.0:0.36:0.0:0.64	.	363;405;363	F5GZ90;Q9NZJ0;B4E0E6	.;DTL_HUMAN;.	M	405;363;84	ENSP00000355958:T405M;ENSP00000443870:T363M	ENSP00000355958:T405M	T	+	2	0	DTL	210320668	0.370000	0.25047	0.785000	0.31869	0.507000	0.33981	1.412000	0.34714	-0.174000	0.10743	-0.810000	0.03169	ACG	DTL	-	NULL	ENSG00000143476		0.423	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTL	HGNC	protein_coding	OTTHUMT00000090182.1	-	0.00	79	0	C	NM_016448		212254045	+1	tier1	-	no_errors	ENST00000366991	ensembl	human	known	74_37	missense	19.80	81	20	SNP	0.353	T
DTNBP1	84062	genome.wustl.edu	37	6	15523213	15523213	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:15523213T>C	ENST00000344537.5	-	10	1221	c.1049A>G	c.(1048-1050)gAc>gGc	p.D350G	DTNBP1_ENST00000355917.3_Missense_Mutation_p.D351G|DTNBP1_ENST00000462989.2_Missense_Mutation_p.D194G	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	350					actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			AATTTAAGAGTCGCTGTCCTC	0.537									Hermansky-Pudlak syndrome																																								0													131.0	115.0	120.0					6																	15523213		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17328	protein-coding gene	gene with protein product	"""dysbindin-1"", ""biogenesis of lysosomal organelles complex-1, subunit 8"""	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.1049A>G	6.37:g.15523213T>C	ENSP00000341680:p.Asp350Gly		A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	pfam_Dysbindin,superfamily_Trp_syn_b_sub_like_PLP_eny_SF	p.D351G	ENST00000344537.5	37	c.1052	CCDS4534.1	6	.	.	.	.	.	.	.	.	.	.	T	16.90	3.249261	0.59103	.	.	ENSG00000047579	ENST00000344537;ENST00000462989;ENST00000355917;ENST00000397306	T;T;T	0.39229	1.09;1.11;1.1	5.43	5.43	0.79202	.	0.000000	0.53938	D	0.000057	T	0.55752	0.1940	M	0.68952	2.095	0.51233	D	0.99991	D	0.89917	1.0	D	0.83275	0.996	T	0.62044	-0.6937	10	0.87932	D	0	.	15.4797	0.75514	0.0:0.0:0.0:1.0	.	350	Q96EV8	DTBP1_HUMAN	G	350;194;351;269	ENSP00000341680:D350G;ENSP00000427239:D194G;ENSP00000348183:D351G	ENSP00000341680:D350G	D	-	2	0	DTNBP1	15631192	1.000000	0.71417	0.998000	0.56505	0.191000	0.23601	5.721000	0.68477	2.049000	0.60858	0.533000	0.62120	GAC	DTNBP1	-	NULL	ENSG00000047579		0.537	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DTNBP1	HGNC	protein_coding	OTTHUMT00000039933.2	-	0.00	42	0	T	NM_032122		15523213	-1	tier1	-	no_errors	ENST00000355917	ensembl	human	known	74_37	missense	29.41	24	10	SNP	1.000	C
DUOX2	50506	genome.wustl.edu	37	15	45405204	45405204	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:45405204G>A	ENST00000603300.1	-	3	343	c.141C>T	c.(139-141)caC>caT	p.H47H	DUOX2_ENST00000389039.6_Silent_p.H47H|DUOXA2_ENST00000323030.5_5'Flank	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	47	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CACGCTCGTGGTGCCTCAGGT	0.672																																																	0													56.0	50.0	52.0					15																	45405204		2198	4298	6496	SO:0001819	synonymous_variant	0			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.141C>T	15.37:g.45405204G>A			A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin	p.H47	ENST00000603300.1	37	c.141	CCDS10117.1	15																																																																																			DUOX2	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000140279		0.672	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		-	0.00	42	0	G	NM_014080		45405204	-1	tier1	-	no_errors	ENST00000389039	ensembl	human	known	74_37	silent	57.14	15	20	SNP	0.950	A
DUSP10	11221	genome.wustl.edu	37	1	221874930	221874931	+	3'UTR	DEL	AA	AA	-	rs78552579		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:221874930_221874931delAA	ENST00000366899.3	-	0	2510_2511				DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_3'UTR|DUSP10_ENST00000323825.3_3'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10						inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		ATCAAATCAGAAAAAAAAAAAA	0.262																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.*824TT>-	1.37:g.221874940_221874941delAA			D3DTB4|Q6GSI4|Q9H9Z5	RNA	DEL	-	NULL	ENST00000366899.3	37	NULL	CCDS1528.1	1																																																																																			DUSP10	-	-	ENSG00000143507		0.262	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1		0.00	11	0	AA	NM_007207		221874931	-1	tier1		no_errors	ENST00000468085	ensembl	human	known	74_37	rna	25.00	24	8	DEL	0.966:0.957	-
DUSP10	11221	genome.wustl.edu	37	1	221875662	221875663	+	3'UTR	DEL	AA	AA	-	rs3215279		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:221875662_221875663delAA	ENST00000366899.3	-	0	1778_1779				DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_3'UTR|DUSP10_ENST00000323825.3_3'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10						inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TCCCAACTACAAAAAAAAAAAG	0.351																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.*92TT>-	1.37:g.221875670_221875671delAA			D3DTB4|Q6GSI4|Q9H9Z5	RNA	DEL	-	NULL	ENST00000366899.3	37	NULL	CCDS1528.1	1																																																																																			DUSP10	-	-	ENSG00000143507		0.351	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1		0.00	23	0	AA	NM_007207		221875663	-1	tier1		no_errors	ENST00000468085	ensembl	human	known	74_37	rna	25.00	18	6	DEL	0.040:0.067	-
DUSP5	1847	genome.wustl.edu	37	10	112266859	112266859	+	Missense_Mutation	SNP	A	A	G	rs147368172		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:112266859A>G	ENST00000369583.3	+	3	979	c.695A>G	c.(694-696)gAc>gGc	p.D232G	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	232	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		CCTGTGGAAGACAGCCACACG	0.542																																																	0													139.0	141.0	140.0					10																	112266859		2203	4300	6503	SO:0001583	missense	0			U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.695A>G	10.37:g.112266859A>G	ENSP00000358596:p.Asp232Gly		Q12997|Q5T603	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.D232G	ENST00000369583.3	37	c.695	CCDS7566.1	10	.	.	.	.	.	.	.	.	.	.	A	32	5.111375	0.94339	.	.	ENSG00000138166	ENST00000369583	T	0.73363	-0.74	5.63	5.63	0.86233	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.92831	0.7720	H	0.99867	4.865	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.95943	0.8948	10	0.87932	D	0	.	15.0207	0.71630	1.0:0.0:0.0:0.0	.	232	Q16690	DUS5_HUMAN	G	232	ENSP00000358596:D232G	ENSP00000358596:D232G	D	+	2	0	DUSP5	112256849	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.152000	0.67230	0.533000	0.62120	GAC	DUSP5	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	ENSG00000138166		0.542	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP5	HGNC	protein_coding	OTTHUMT00000050333.1	-	0.00	51	0	A	NM_004419		112266859	+1	tier1	-	no_errors	ENST00000369583	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	G
DVL2	1856	genome.wustl.edu	37	17	7129207	7129207	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:7129207C>T	ENST00000005340.5	-	15	2470	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K	DVL2_ENST00000575458.1_Missense_Mutation_p.E724K|MIR324_ENST00000362183.1_RNA	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	730					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						ACAAAGAACTCGCTGGGATTG	0.637																																																	0													52.0	60.0	57.0					17																	7129207		2200	4297	6497	SO:0001583	missense	0			BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.2188G>A	17.37:g.7129207C>T	ENSP00000005340:p.Glu730Lys		D3DTN3|Q53XM0	Missense_Mutation	SNP	pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_2,prints_Dishevelled_fam	p.E730K	ENST00000005340.5	37	c.2188	CCDS11091.1	17	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678159	0.68042	.	.	ENSG00000004975	ENST00000005340	T	0.07327	3.2	5.87	4.85	0.62838	.	0.114616	0.56097	D	0.000022	T	0.12518	0.0304	L	0.59436	1.845	0.54753	D	0.999989	D;D	0.61080	0.989;0.989	B;B	0.44133	0.442;0.442	T	0.00695	-1.1606	10	0.62326	D	0.03	-21.7945	14.2011	0.65705	0.0:0.8493:0.1507:0.0	.	724;730	B4DLQ0;O14641	.;DVL2_HUMAN	K	730	ENSP00000005340:E730K	ENSP00000005340:E730K	E	-	1	0	DVL2	7069931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.732000	0.68563	2.781000	0.95711	0.655000	0.94253	GAG	DVL2	-	NULL	ENSG00000004975		0.637	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DVL2	HGNC	protein_coding	OTTHUMT00000219999.2	-	0.00	73	0	C	NM_004422		7129207	-1	tier1	-	no_errors	ENST00000005340	ensembl	human	known	74_37	missense	38.18	34	21	SNP	1.000	T
DYNC1H1	1778	genome.wustl.edu	37	14	102494139	102494139	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:102494139C>T	ENST00000360184.4	+	47	9396	c.9232C>T	c.(9232-9234)Cgg>Tgg	p.R3078W		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3078	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACTCAAGGACCGGGCAGCTAC	0.572																																																	0													131.0	124.0	126.0					14																	102494139		2203	4300	6503	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9232C>T	14.37:g.102494139C>T	ENSP00000348965:p.Arg3078Trp		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.R3078W	ENST00000360184.4	37	c.9232	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078910	0.76528	.	.	ENSG00000197102	ENST00000360184	T	0.57595	0.39	5.78	3.72	0.42706	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.78635	0.4314	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84193	0.0446	10	0.56958	D	0.05	.	13.4486	0.61155	0.4489:0.5511:0.0:0.0	.	3078	Q14204	DYHC1_HUMAN	W	3078	ENSP00000348965:R3078W	ENSP00000348965:R3078W	R	+	1	2	DYNC1H1	101563892	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	1.885000	0.39678	1.380000	0.46344	0.655000	0.94253	CGG	DYNC1H1	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000197102		0.572	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0.00	67	0	C	NM_001376		102494139	+1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	missense	49.09	28	27	SNP	1.000	T
DYNC2H1	79659	genome.wustl.edu	37	11	103006263	103006263	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:103006263T>C	ENST00000375735.2	+	16	2389	c.2245T>C	c.(2245-2247)Tgg>Cgg	p.W749R	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.W749R|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	749	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAAACAACACTGGAATCATCA	0.338																																																	0													77.0	72.0	74.0					11																	103006263		1839	4100	5939	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2245T>C	11.37:g.103006263T>C	ENSP00000364887:p.Trp749Arg		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.W749R	ENST00000375735.2	37	c.2245	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	T	20.7	4.028173	0.75390	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.32515	1.45;1.45	5.62	5.62	0.85841	.	0.000000	0.64402	U	0.000002	T	0.62036	0.2395	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.66630	-0.5875	10	0.40728	T	0.16	.	15.8286	0.78733	0.0:0.0:0.0:1.0	.	749;749	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	R	749	ENSP00000364887:W749R;ENSP00000381167:W749R	ENSP00000364887:W749R	W	+	1	0	DYNC2H1	102511473	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.982000	0.70532	2.141000	0.66446	0.460000	0.39030	TGG	DYNC2H1	-	NULL	ENSG00000187240		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0.00	47	0	T	XM_370652		103006263	+1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	36.54	33	19	SNP	1.000	C
DYNLT1	6993	genome.wustl.edu	37	6	159058760	159058760	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:159058760delA	ENST00000367089.3	-	3	224				DYNLT1_ENST00000367085.3_Frame_Shift_Del_p.L79fs|DYNLT1_ENST00000367088.1_5'UTR	NM_006519.2	NP_006510.1	P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1						establishment of mitotic spindle orientation (GO:0000132)|intracellular transport of viral protein in host cell (GO:0019060)|microtubule-dependent intracellular transport of viral material towards nucleus (GO:0075521)|mitotic nuclear division (GO:0007067)|negative regulation of neurogenesis (GO:0050768)|neuron projection morphogenesis (GO:0048812)|regulation of cytoskeleton organization (GO:0051493)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of Rac GTPase activity (GO:0032314)|viral entry into host cell (GO:0046718)	cytoplasmic dynein complex (GO:0005868)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)	identical protein binding (GO:0042802)|motor activity (GO:0003774)			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		GATCAGTGTTAAAAAACCATC	0.438																																																	0													82.0	73.0	76.0					6																	159058760		2203	4300	6503	SO:0001627	intron_variant	0			D50663	CCDS5257.1	6q25.2-q25.3	2008-02-05	2005-11-24	2005-11-24	ENSG00000146425	ENSG00000146425		"""Cytoplasmic dyneins"""	11697	protein-coding gene	gene with protein product		601554	"""t-complex-associated-testis-expressed 1-like 1"""	TCTEL1		8646886, 16260502	Standard	XM_005267117		Approved		uc003qrn.2	P63172	OTTHUMG00000015918	ENST00000367089.3:c.193+42T>-	6.37:g.159058760delA			Q15763|Q5VTU4	Frame_Shift_Del	DEL	pfam_Tctex	p.L79fs	ENST00000367089.3	37	c.236	CCDS5257.1	6																																																																																			DYNLT1	-	NULL	ENSG00000146425		0.438	DYNLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNLT1	HGNC	protein_coding	OTTHUMT00000042881.1		0.00	25	0	A	NM_006519		159058760	-1	tier1		no_errors	ENST00000367085	ensembl	human	known	74_37	frame_shift_del	58.82	7	10	DEL	0.000	-
DYRK1A	1859	genome.wustl.edu	37	21	38877824	38877824	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:38877824T>C	ENST00000398960.2	+	9	1553	c.1478T>C	c.(1477-1479)gTa>gCa	p.V493A	DYRK1A_ENST00000339659.4_Missense_Mutation_p.V484A|DYRK1A_ENST00000338785.3_Missense_Mutation_p.V493A|DYRK1A_ENST00000398956.2_Missense_Mutation_p.V493A|DYRK1A_ENST00000455387.2_Missense_Mutation_p.V265A|DYRK1A_ENST00000451934.1_Missense_Mutation_p.V493A|DYRK1A_ENST00000321219.8_Missense_Mutation_p.V493A	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	493					circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTAATAGTGTATCTACAAGC	0.468																																					Melanoma(114;464 1602 31203 43785 45765)												0													107.0	110.0	109.0					21																	38877824		2203	4300	6503	SO:0001583	missense	0			U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1478T>C	21.37:g.38877824T>C	ENSP00000381932:p.Val493Ala		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V493A	ENST00000398960.2	37	c.1478	CCDS42925.1	21	.	.	.	.	.	.	.	.	.	.	T	10.74	1.434619	0.25813	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.054738	0.64402	D	0.000001	T	0.16300	0.0392	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.25809	0.058;0.135;0.0;0.001;0.058	B;B;B;B;B	0.21917	0.037;0.037;0.003;0.007;0.037	T	0.11179	-1.0598	10	0.02654	T	1	.	11.3004	0.49302	0.1359:0.0:0.0:0.8641	.	493;493;493;484;493	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	A	493;484;493;493;493;493;265	ENSP00000342690:V493A;ENSP00000340373:V484A;ENSP00000319032:V493A;ENSP00000416089:V493A;ENSP00000381932:V493A;ENSP00000381929:V493A;ENSP00000407854:V265A	ENSP00000319032:V493A	V	+	2	0	DYRK1A	37799694	1.000000	0.71417	0.685000	0.30070	0.618000	0.37518	7.977000	0.88081	2.228000	0.72767	0.528000	0.53228	GTA	DYRK1A	-	superfamily_Kinase-like_dom	ENSG00000157540		0.468	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK1A	HGNC	protein_coding	OTTHUMT00000194804.1		0.00	37	0	T	NM_001396		38877824	+1			no_errors	ENST00000398960	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.996	C
EAF1	85403	genome.wustl.edu	37	3	15480599	15480599	+	Intron	DEL	T	T	-	rs199579790		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:15480599delT	ENST00000396842.2	+	6	1185				EAF1-AS1_ENST00000610011.1_RNA|EAF1_ENST00000432764.2_Intron|EAF1-AS1_ENST00000597949.1_RNA|EAF1-AS1_ENST00000494875.3_RNA|EAF1-AS1_ENST00000593876.1_RNA|EAF1-AS1_ENST00000609310.1_RNA|EAF1-AS1_ENST00000595975.1_RNA|EAF1-AS1_ENST00000596371.1_RNA|EAF1-AS1_ENST00000599742.1_RNA|EAF1-AS1_ENST00000594820.1_RNA|EAF1-AS1_ENST00000608780.1_RNA|EAF1-AS1_ENST00000595627.1_RNA	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ELL-EAF complex (GO:0032783)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						TTTTACTTTATTTTTTTTTTT	0.323																																																	0										7,15,4242|7,26,4231		3,0,1,1,13,2114|0,0,7,4,18,2103	42.0	45.0	44.0			0.5|0.2	0.0|0.0	3		43|44	18,2,8234|29,29,8196		9,0,0,0,2,4116|0,0,29,8,13,4077	no|no	intron|intron	EAF1|EAF1	NM_033083.6|NM_033083.6		12,0,1,1,15,6230|0,0,36,12,31,6180	A1A1,A1A2,A1R,A2A2,A2R,RR|A1A1,A1A2,A1R,A2A2,A2R,RR		0.2423,0.5159,0.3355|0.7027,0.7739,0.727			15480599	25,17,12476|36,55,12427	2202	4300	6502	SO:0001627	intron_variant	0			AF272973	CCDS2626.1	3p25.1	2011-06-10			ENSG00000144597	ENSG00000144597			20907	protein-coding gene	gene with protein product		608315				11418481	Standard	NM_033083		Approved		uc003bzu.3	Q96JC9	OTTHUMG00000162544	ENST00000396842.2:c.761-17T>-	3.37:g.15480599delT			B4E3F5|Q8IW10	RNA	DEL	-	NULL	ENST00000396842.2	37	NULL	CCDS2626.1	3																																																																																			EAF1-AS1	-	-	ENSG00000249786		0.323	EAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EAF1-AS1	HGNC	protein_coding	OTTHUMT00000252100.4		0.00	28	0	T	NM_033083		15480599	-1	tier1		no_errors	ENST00000494875	ensembl	human	known	74_37	rna	17.07	34	7	DEL	0.925	-
DZIP1L	199221	genome.wustl.edu	37	3	137822704	137822704	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:137822704C>T	ENST00000327532.2	-	2	472	c.110G>A	c.(109-111)cGc>cAc	p.R37H	DZIP1L_ENST00000469243.1_Missense_Mutation_p.R37H	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	37					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GGTGCTAATGCGTCTCCAGTC	0.597																																																	0													95.0	99.0	97.0					3																	137822704		2203	4300	6503	SO:0001583	missense	0			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.110G>A	3.37:g.137822704C>T	ENSP00000332148:p.Arg37His		C9JUG5|Q96M38	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.R37H	ENST00000327532.2	37	c.110	CCDS3096.1	3	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841485	0.91197	.	.	ENSG00000158163	ENST00000327532;ENST00000469243;ENST00000536706;ENST00000467030;ENST00000492010	T;T;T	0.47528	0.84;0.84;0.84	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000002	T	0.70596	0.3242	M	0.79123	2.44	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74250	-0.3726	10	0.59425	D	0.04	-8.5047	18.0434	0.89325	0.0:1.0:0.0:0.0	.	37;37	Q8IYY4-2;Q8IYY4	.;DZI1L_HUMAN	H	37	ENSP00000332148:R37H;ENSP00000419486:R37H;ENSP00000420600:R37H	ENSP00000332148:R37H	R	-	2	0	DZIP1L	139305394	1.000000	0.71417	0.925000	0.36789	0.648000	0.38561	5.332000	0.65911	2.348000	0.79779	0.655000	0.94253	CGC	DZIP1L	-	NULL	ENSG00000158163		0.597	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	-	0.00	60	0	C	NM_173543		137822704	-1	tier1	-	no_errors	ENST00000327532	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
EAPP	55837	genome.wustl.edu	37	14	34998660	34998660	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:34998660delT	ENST00000250454.3	-	4	455	c.374delA	c.(373-375)aagfs	p.K127fs		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	127	Poly-Lys.				negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		TTGTTTCTTCTTTTTTTTCTT	0.363																																																	0													116.0	103.0	107.0					14																	34998660		1835	4085	5920	SO:0001589	frameshift_variant	0			AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.374delA	14.37:g.34998660delT	ENSP00000250454:p.Lys127fs		Q9BVF4|Q9NWV5|Q9NZ86	Frame_Shift_Del	DEL	pfam_E2F-assoc_phosphoprotein	p.K125fs	ENST00000250454.3	37	c.374	CCDS41941.1	14																																																																																			EAPP	-	NULL	ENSG00000129518		0.363	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EAPP	HGNC	protein_coding	OTTHUMT00000409847.1		0.00	63	0	T	NM_018453		34998660	-1	tier1		no_errors	ENST00000250454	ensembl	human	known	74_37	frame_shift_del	24.59	46	15	DEL	1.000	-
EBF3	253738	genome.wustl.edu	37	10	131761680	131761680	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:131761680G>A	ENST00000355311.5	-	2	314	c.242C>T	c.(241-243)cCg>cTg	p.P81L	EBF3_ENST00000368648.3_Missense_Mutation_p.P81L			Q9H4W6	COE3_HUMAN	early B-cell factor 3	81					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AATCTCCACCGGCTGCCCCTG	0.557																																																	0													70.0	78.0	75.0					10																	131761680		2203	4300	6503	SO:0001583	missense	0				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.242C>T	10.37:g.131761680G>A	ENSP00000347463:p.Pro81Leu		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,smart_IPT	p.P81L	ENST00000355311.5	37	c.242		10	.	.	.	.	.	.	.	.	.	.	G	19.06	3.754033	0.69648	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.52754	0.65;0.66	3.45	3.45	0.39498	.	0.000000	0.85682	U	0.000000	T	0.67078	0.2855	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.971	T	0.71111	-0.4687	10	0.51188	T	0.08	-6.4879	14.5175	0.67827	0.0:0.0:1.0:0.0	.	81;81	Q9H4W6;Q9H4W6-2	COE3_HUMAN;.	L	81	ENSP00000347463:P81L;ENSP00000357637:P81L	ENSP00000347463:P81L	P	-	2	0	EBF3	131651670	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	8.831000	0.92068	1.453000	0.47775	0.205000	0.17691	CCG	EBF3	-	NULL	ENSG00000108001		0.557	EBF3-001	KNOWN	basic|appris_principal	protein_coding	EBF3	HGNC	protein_coding	OTTHUMT00000051015.2	-	0.00	103	0	G	NM_001005463		131761680	-1	tier1	-	no_errors	ENST00000355311	ensembl	human	known	74_37	missense	30.12	58	25	SNP	1.000	A
EBF3	253738	genome.wustl.edu	37	10	131761704	131761704	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:131761704G>A	ENST00000355311.5	-	2	290	c.218C>T	c.(217-219)gCg>gTg	p.A73V	EBF3_ENST00000368648.3_Missense_Mutation_p.A73V			Q9H4W6	COE3_HUMAN	early B-cell factor 3	73					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ATCGTAGAGCGCCAGCACGAA	0.572																																																	0													64.0	70.0	68.0					10																	131761704		2203	4300	6503	SO:0001583	missense	0				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.218C>T	10.37:g.131761704G>A	ENSP00000347463:p.Ala73Val		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,smart_IPT	p.A73V	ENST00000355311.5	37	c.218		10	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318404	0.81469	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.61510	0.1;0.15	3.27	3.27	0.37495	.	0.000000	0.85682	U	0.000000	T	0.77465	0.4134	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.976;0.981	T	0.82804	-0.0276	10	0.87932	D	0	-7.0785	14.1154	0.65149	0.0:0.0:1.0:0.0	.	73;73	Q9H4W6;Q9H4W6-2	COE3_HUMAN;.	V	73	ENSP00000347463:A73V;ENSP00000357637:A73V	ENSP00000347463:A73V	A	-	2	0	EBF3	131651694	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	8.831000	0.92068	1.343000	0.45638	0.205000	0.17691	GCG	EBF3	-	NULL	ENSG00000108001		0.572	EBF3-001	KNOWN	basic|appris_principal	protein_coding	EBF3	HGNC	protein_coding	OTTHUMT00000051015.2		0.00	99	0	G	NM_001005463		131761704	-1			no_errors	ENST00000355311	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	A
EBI3	10148	genome.wustl.edu	37	19	4233255	4233255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4233255delC	ENST00000221847.5	+	3	383	c.330delC	c.(328-330)cacfs	p.H110fs		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	110	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCCGTCCACCCCTGGGGCT	0.657																																																	0													55.0	39.0	44.0					19																	4233255		2203	4300	6503	SO:0001589	frameshift_variant	0			L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"""Fibronectin type III domain containing"""	3129	protein-coding gene	gene with protein product	"""IL27 subunit"", ""IL35 subunit"""	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.330delC	19.37:g.4233255delC	ENSP00000221847:p.His110fs		A0N0N2|O75269	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.W112fs	ENST00000221847.5	37	c.330	CCDS12123.1	19																																																																																			EBI3	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000105246		0.657	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBI3	HGNC	protein_coding	OTTHUMT00000458005.1		0.00	104	0	C			4233255	+1	tier1		no_errors	ENST00000221847	ensembl	human	known	74_37	frame_shift_del	9.59	66	7	DEL	0.004	-
ECE1	1889	genome.wustl.edu	37	1	21554464	21554464	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:21554464C>T	ENST00000374893.6	-	15	1815	c.1741G>A	c.(1741-1743)Ggg>Agg	p.G581R	ECE1_ENST00000415912.2_Missense_Mutation_p.G565R|ECE1_ENST00000436918.2_Missense_Mutation_p.G581R|ECE1_ENST00000264205.6_Missense_Mutation_p.G578R|ECE1_ENST00000357071.4_Missense_Mutation_p.G569R	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	581					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TGCAGGATCCCGGCCGGAAAC	0.607																																																	0													99.0	75.0	83.0					1																	21554464		2198	4289	6487	SO:0001583	missense	0			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1741G>A	1.37:g.21554464C>T	ENSP00000364028:p.Gly581Arg		A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.G581R	ENST00000374893.6	37	c.1741	CCDS215.1	1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587573	0.86851	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89	4.95	4.95	0.65309	Peptidase M13, neprilysin, C-terminal (2);Metallopeptidase, catalytic domain (1);	0.053534	0.85682	D	0.000000	D	0.95809	0.8636	H	0.99042	4.41	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.997;0.999;0.995;0.995	D	0.97767	1.0224	10	0.87932	D	0	-33.1007	17.1454	0.86765	0.0:1.0:0.0:0.0	.	581;565;581;569;578	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	R	565;569;581;581;578	ENSP00000405088:G565R;ENSP00000349581:G569R;ENSP00000364028:G581R;ENSP00000388439:G581R;ENSP00000264205:G578R	ENSP00000264205:G578R	G	-	1	0	ECE1	21427051	1.000000	0.71417	0.994000	0.49952	0.971000	0.66376	7.656000	0.83736	2.448000	0.82819	0.650000	0.86243	GGG	ECE1	-	pfam_Peptidase_M13_C,prints_Peptidase_M13_C	ENSG00000117298		0.607	ECE1-002	KNOWN	basic|CCDS	protein_coding	ECE1	HGNC	protein_coding	OTTHUMT00000007470.2	-	0.00	37	0	C	NM_001397		21554464	-1	tier1	-	no_errors	ENST00000374893	ensembl	human	known	74_37	missense	33.33	28	14	SNP	1.000	T
ECE1	1889	genome.wustl.edu	37	1	21586835	21586835	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:21586835A>G	ENST00000374893.6	-	5	618	c.544T>C	c.(544-546)Tac>Cac	p.Y182H	ECE1_ENST00000415912.2_Missense_Mutation_p.Y166H|ECE1_ENST00000436918.2_Missense_Mutation_p.Y182H|ECE1_ENST00000264205.6_Missense_Mutation_p.Y179H|ECE1_ENST00000357071.4_Missense_Mutation_p.Y170H	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	182					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CACGCACGGTAGTATACTTGC	0.577																																																	0													327.0	288.0	301.0					1																	21586835		2203	4300	6503	SO:0001583	missense	0			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.544T>C	1.37:g.21586835A>G	ENSP00000364028:p.Tyr182His		A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.Y182H	ENST00000374893.6	37	c.544	CCDS215.1	1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.364186	0.82353	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205;ENST00000473505	D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62;-2.62	5.34	5.34	0.76211	Peptidase M13 (1);	0.061531	0.64402	D	0.000002	D	0.96253	0.8778	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999	D;D;D;D;D	0.87578	0.996;0.997;0.998;0.995;0.995	D	0.97137	0.9822	10	0.87932	D	0	-27.6355	14.1407	0.65318	1.0:0.0:0.0:0.0	.	182;166;182;170;179	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	H	166;170;182;182;179;68	ENSP00000405088:Y166H;ENSP00000349581:Y170H;ENSP00000364028:Y182H;ENSP00000388439:Y182H;ENSP00000264205:Y179H;ENSP00000431856:Y68H	ENSP00000264205:Y179H	Y	-	1	0	ECE1	21459422	1.000000	0.71417	0.998000	0.56505	0.668000	0.39293	8.883000	0.92426	2.020000	0.59435	0.260000	0.18958	TAC	ECE1	-	pfam_Peptidase_M13_N	ENSG00000117298		0.577	ECE1-002	KNOWN	basic|CCDS	protein_coding	ECE1	HGNC	protein_coding	OTTHUMT00000007470.2	-	0.00	49	0	A	NM_001397		21586835	-1	tier1	-	no_errors	ENST00000374893	ensembl	human	known	74_37	missense	13.33	39	6	SNP	1.000	G
ECE2	9718	genome.wustl.edu	37	3	184001715	184001715	+	Missense_Mutation	SNP	G	G	A	rs536698371		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:184001715G>A	ENST00000402825.3	+	8	1313	c.1313G>A	c.(1312-1314)cGc>cAc	p.R438H	ECE2_ENST00000404464.3_Missense_Mutation_p.R320H|ECE2_ENST00000359140.4_Missense_Mutation_p.R291H|ECE2_ENST00000357474.5_Missense_Mutation_p.R366H|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	438	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACCAGCGGCGCGACGAGGAG	0.637																																																	0													78.0	67.0	71.0					3																	184001715		2203	4300	6503	SO:0001583	missense	0			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1313G>A	3.37:g.184001715G>A	ENSP00000384223:p.Arg438His		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.R438H	ENST00000402825.3	37	c.1313	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691634	0.68271	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	4.3	4.3	0.51218	Peptidase M13 (1);	0.057926	0.64402	D	0.000003	D	0.85656	0.5747	M	0.62266	1.93	0.58432	D	0.999996	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;P;D;D;D	0.91635	0.999;0.999;0.944;0.781;0.999;0.999;0.999	D	0.85746	0.1340	10	0.44086	T	0.13	-11.6052	15.4844	0.75555	0.0:0.0:1.0:0.0	.	40;291;309;320;366;291;438	B4DHU4;B4DKF3;B4DF19;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;.;.;ECE2_HUMAN	H	438;291;320;366;312	ENSP00000384223:R438H;ENSP00000352052:R291H;ENSP00000385846:R320H;ENSP00000350066:R366H;ENSP00000398444:R312H	ENSP00000350066:R366H	R	+	2	0	ECE2	185484409	1.000000	0.71417	0.936000	0.37596	0.970000	0.65996	9.097000	0.94193	2.222000	0.72286	0.650000	0.86243	CGC	ECE2	-	pfam_Peptidase_M13_N	ENSG00000145194		0.637	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	-	0.00	40	0	G	NM_014693		184001715	+1	tier1	-	no_errors	ENST00000402825	ensembl	human	known	74_37	missense	16.67	50	10	SNP	0.999	A
ECEL1	9427	genome.wustl.edu	37	2	233350693	233350693	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:233350693G>A	ENST00000304546.1	-	2	881	c.671C>T	c.(670-672)gCg>gTg	p.A224V	ECEL1_ENST00000409941.1_Missense_Mutation_p.A224V	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	224					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GTCCCATCGCGCCGCGACCCC	0.711																																																	0													8.0	9.0	9.0					2																	233350693		2150	4211	6361	SO:0001583	missense	0			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.671C>T	2.37:g.233350693G>A	ENSP00000302051:p.Ala224Val		Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.A224V	ENST00000304546.1	37	c.671	CCDS2493.1	2	.	.	.	.	.	.	.	.	.	.	G	9.057	0.993562	0.19043	.	.	ENSG00000171551	ENST00000304546;ENST00000409941	D;D	0.82344	-1.6;-1.6	5.01	2.94	0.34122	Peptidase M13 (1);	0.478641	0.19074	N	0.123437	T	0.64294	0.2585	N	0.08118	0	0.09310	N	1	B;B	0.30361	0.277;0.197	B;B	0.20577	0.03;0.027	T	0.58278	-0.7664	10	0.49607	T	0.09	-6.9187	10.7376	0.46135	0.0:0.2392:0.6258:0.135	.	224;224	O95672-2;O95672	.;ECEL1_HUMAN	V	224	ENSP00000302051:A224V;ENSP00000386333:A224V	ENSP00000302051:A224V	A	-	2	0	ECEL1	233058937	0.578000	0.26717	0.057000	0.19452	0.161000	0.22273	1.917000	0.39996	1.085000	0.41206	0.650000	0.86243	GCG	ECEL1	-	pfam_Peptidase_M13_N	ENSG00000171551		0.711	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECEL1	HGNC	protein_coding	OTTHUMT00000257039.2	-	0.00	30	0	G	NM_004826		233350693	-1	tier1	-	no_errors	ENST00000304546	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.003	A
ECM1	1893	genome.wustl.edu	37	1	150483621	150483621	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:150483621C>T	ENST00000369047.4	+	6	780	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	ECM1_ENST00000369049.4_Missense_Mutation_p.R246C|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.R219C	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	219	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)	p.R219S(1)|p.R246S(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGGATATTCCCGCTGCTGCCA	0.557																																					Melanoma(156;1696 2560 11093 19685)												2	Substitution - Missense(2)	lung(2)											86.0	93.0	90.0					1																	150483621		2203	4300	6503	SO:0001583	missense	0			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.655C>T	1.37:g.150483621C>T	ENSP00000358043:p.Arg219Cys		A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	pfam_ECM1,superfamily_Serum_albumin-like	p.R246C	ENST00000369047.4	37	c.736	CCDS953.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282383	0.80692	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	D;D;D	0.81579	-1.51;-1.51;-1.51	5.04	5.04	0.67666	.	0.434898	0.23710	N	0.045338	D	0.85539	0.5720	M	0.64997	1.995	0.50632	D	0.999885	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.998;0.999;1.0;0.996;0.999	D	0.86704	0.1931	10	0.87932	D	0	-23.5299	13.7487	0.62894	0.0:1.0:0.0:0.0	.	141;148;246;219;219;219	B7ZAS5;Q16610-3;Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;.;.;ECM1_HUMAN	C	246;219;219	ENSP00000358045:R246C;ENSP00000358043:R219C;ENSP00000271630:R219C	ENSP00000271630:R219C	R	+	1	0	ECM1	148750245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.260000	0.51523	2.640000	0.89533	0.655000	0.94253	CGC	ECM1	-	pfam_ECM1,superfamily_Serum_albumin-like	ENSG00000143369		0.557	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM1	HGNC	protein_coding	OTTHUMT00000035832.2	-	0.00	72	0	C	NM_004425		150483621	+1	tier1	-	no_errors	ENST00000369049	ensembl	human	known	74_37	missense	28.21	56	22	SNP	1.000	T
ECSIT	51295	genome.wustl.edu	37	19	11624897	11624897	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:11624897G>A	ENST00000270517.7	-	3	371	c.236C>T	c.(235-237)gCg>gTg	p.A79V	ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.A79V|RN7SL833P_ENST00000498758.2_RNA|ECSIT_ENST00000591104.1_Missense_Mutation_p.A79V|ECSIT_ENST00000592312.1_5'UTR	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	79					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CCCACCAGGCGCCTGCCCAAA	0.627																																																	0													56.0	53.0	54.0					19																	11624897		2203	4300	6503	SO:0001583	missense	0			BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.236C>T	19.37:g.11624897G>A	ENSP00000270517:p.Ala79Val		E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	pfam_ECSIT	p.A79V	ENST00000270517.7	37	c.236	CCDS12262.1	19	.	.	.	.	.	.	.	.	.	.	g	16.02	3.004248	0.54254	.	.	ENSG00000130159	ENST00000270517;ENST00000252440	T;T	0.77098	-1.07;-1.07	5.71	2.23	0.28157	.	0.367137	0.27710	N	0.018164	T	0.62295	0.2416	L	0.42529	1.33	0.20926	N	0.99983	P;P	0.42123	0.621;0.771	B;B	0.31245	0.034;0.126	T	0.51466	-0.8702	10	0.30078	T	0.28	-9.2998	9.3965	0.38406	0.0:0.2607:0.4704:0.2689	.	79;79	Q9BQ95-2;Q9BQ95	.;ECSIT_HUMAN	V	79	ENSP00000270517:A79V;ENSP00000252440:A79V	ENSP00000252440:A79V	A	-	2	0	ECSIT	11485897	0.338000	0.24775	0.000000	0.03702	0.023000	0.10783	1.297000	0.33400	0.283000	0.22279	0.543000	0.68304	GCG	ECSIT	-	pfam_ECSIT	ENSG00000130159		0.627	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECSIT	HGNC	protein_coding	OTTHUMT00000442603.2	-	0.00	49	0	G	NM_016581		11624897	-1	tier1	-	no_errors	ENST00000270517	ensembl	human	known	74_37	missense	44.74	21	17	SNP	0.010	A
ECT2L	345930	genome.wustl.edu	37	6	139165650	139165650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:139165650C>T	ENST00000423192.1	+	6	858	c.697C>T	c.(697-699)Cga>Tga	p.R233*	ECT2L_ENST00000541398.1_Nonsense_Mutation_p.R164*|ECT2L_ENST00000367682.2_Nonsense_Mutation_p.R233*			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	233							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGTAAGGGAGCGAGTGGGATT	0.493			"""N, Splice, Mis"""		ETP ALL																																			Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													84.0	84.0	84.0					6																	139165650		1916	4134	6050	SO:0001587	stop_gained	0				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.697C>T	6.37:g.139165650C>T	ENSP00000387388:p.Arg233*		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain	p.R233*	ENST00000423192.1	37	c.697	CCDS43508.1	6	.	.	.	.	.	.	.	.	.	.	C	22.0	4.225729	0.79576	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	.	.	.	5.73	1.6	0.23607	.	11.331800	0.02381	U	0.078839	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.8498	2.6139	0.04899	0.1396:0.486:0.2159:0.1585	.	.	.	.	X	233;233;164	.	ENSP00000356655:R233X	R	+	1	2	ECT2L	139207343	0.000000	0.05858	0.000000	0.03702	0.255000	0.26057	0.476000	0.22180	0.213000	0.20722	0.650000	0.86243	CGA	ECT2L	-	NULL	ENSG00000203734		0.493	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECT2L	HGNC	protein_coding	OTTHUMT00000042441.3	-	0.00	46	0	C	NM_001077706		139165650	+1	tier1	-	no_errors	ENST00000367682	ensembl	human	known	74_37	nonsense	10.00	45	5	SNP	0.000	T
EDEM2	55741	genome.wustl.edu	37	20	33730239	33730239	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:33730239G>T	ENST00000374492.3	-	4	406	c.301C>A	c.(301-303)Ctc>Atc	p.L101I	EDEM2_ENST00000374491.3_Missense_Mutation_p.L64I|EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000540582.1_Missense_Mutation_p.L60I|EDEM2_ENST00000541621.1_5'UTR	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	101					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CTGTCCTGGAGCACTTCAACC	0.428																																					Esophageal Squamous(51;906 1021 24535 36410 39145)												0													84.0	76.0	79.0					20																	33730239		2203	4300	6503	SO:0001583	missense	0			AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.301C>A	20.37:g.33730239G>T	ENSP00000363616:p.Leu101Ile		B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.L101I	ENST00000374492.3	37	c.301	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889476	0.72524	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000540582	T;T;T	0.37915	1.17;1.17;1.17	5.87	5.87	0.94306	.	0.059457	0.64402	D	0.000001	T	0.32645	0.0836	N	0.04636	-0.2	0.80722	D	1	B;P;P	0.44521	0.184;0.804;0.837	B;P;P	0.53224	0.067;0.481;0.721	T	0.20605	-1.0270	10	0.20519	T	0.43	-18.4899	19.8286	0.96626	0.0:0.0:1.0:0.0	.	60;64;101	F5GZ44;Q9BV94-2;Q9BV94	.;.;EDEM2_HUMAN	I	64;101;60	ENSP00000363615:L64I;ENSP00000363616:L101I;ENSP00000441548:L60I	ENSP00000363615:L64I	L	-	1	0	EDEM2	33193900	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.861000	0.87004	2.785000	0.95823	0.655000	0.94253	CTC	EDEM2	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000088298		0.428	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	HGNC	protein_coding	OTTHUMT00000078842.2	-	0.00	50	0	G	NM_018217		33730239	-1	tier1	-	no_errors	ENST00000374492	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T
EDIL3	10085	genome.wustl.edu	37	5	83362376	83362376	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:83362376G>A	ENST00000296591.5	-	7	1119	c.701C>T	c.(700-702)gCc>gTc	p.A234V	EDIL3_ENST00000380138.3_Missense_Mutation_p.A224V|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	234	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AATCCTCTTGGCTCCTTGGGT	0.373																																																	0													111.0	124.0	120.0					5																	83362376		2203	4300	6503	SO:0001583	missense	0			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.701C>T	5.37:g.83362376G>A	ENSP00000296591:p.Ala234Val		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.A234V	ENST00000296591.5	37	c.701	CCDS4062.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.437160	0.96168	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98264	-4.83;-4.83	5.93	5.93	0.95920	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98953	0.9644	M	0.78049	2.395	0.80722	D	1	P;D;D	0.89917	0.913;0.998;1.0	P;D;D	0.83275	0.736;0.987;0.996	D	0.99585	1.0974	10	0.59425	D	0.04	-21.6639	20.3363	0.98740	0.0:0.0:1.0:0.0	.	11;224;234	B7Z865;O43854-2;O43854	.;.;EDIL3_HUMAN	V	234;224	ENSP00000296591:A234V;ENSP00000369483:A224V	ENSP00000296591:A234V	A	-	2	0	EDIL3	83398132	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.814000	0.96858	0.563000	0.77884	GCC	EDIL3	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000164176		0.373	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	HGNC	protein_coding	OTTHUMT00000239258.1	-	0.00	50	0	G	NM_005711		83362376	-1	tier1	-	no_errors	ENST00000296591	ensembl	human	known	74_37	missense	44.44	35	28	SNP	1.000	A
EEF2	1938	genome.wustl.edu	37	19	3980633	3980633	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:3980633G>A	ENST00000309311.6	-	9	1313	c.1225C>T	c.(1225-1227)Cgg>Tgg	p.R409W	SNORD37_ENST00000384048.1_RNA|EEF2_ENST00000600720.1_5'Flank	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	409					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTAGAACCGACCTTTGTCG	0.537																																					Colon(165;1804 1908 4071 6587 18799)												0													90.0	87.0	88.0					19																	3980633		2203	4300	6503	SO:0001583	missense	0			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1225C>T	19.37:g.3980633G>A	ENSP00000307940:p.Arg409Trp		B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.R409W	ENST00000309311.6	37	c.1225	CCDS12117.1	19	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297456	0.81025	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	D	0.82255	-1.59	5.66	4.55	0.56014	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.054130	0.64402	D	0.000001	D	0.94571	0.8251	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.96176	0.9127	10	0.87932	D	0	-40.0279	14.7278	0.69357	0.0:0.0:0.7731:0.2269	.	409	P13639	EF2_HUMAN	W	409	ENSP00000307940:R409W	ENSP00000307940:R409W	R	-	1	2	EEF2	3931633	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	4.669000	0.61575	2.674000	0.91012	0.561000	0.74099	CGG	EEF2	-	superfamily_Transl_B-barrel	ENSG00000167658		0.537	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	-	0.00	57	0	G	NM_001961		3980633	-1	tier1	-	no_errors	ENST00000309311	ensembl	human	known	74_37	missense	43.18	25	19	SNP	0.987	A
EFEMP2	30008	genome.wustl.edu	37	11	65634513	65634513	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:65634513C>T	ENST00000307998.6	-	11	1438	c.1208G>A	c.(1207-1209)cGg>cAg	p.R403Q	EFEMP2_ENST00000532648.1_5'UTR|EFEMP2_ENST00000528176.1_Intron|MUS81_ENST00000525006.1_Intron	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	403					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CGTCACCGGCCGGGCGAGGAC	0.627																																																	0													63.0	63.0	63.0					11																	65634513		2201	4296	6497	SO:0001583	missense	0			AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.1208G>A	11.37:g.65634513C>T	ENSP00000309953:p.Arg403Gln		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin	p.R403Q	ENST00000307998.6	37	c.1208	CCDS8116.1	11	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938109	0.73557	.	.	ENSG00000172638	ENST00000526911;ENST00000307998;ENST00000530806	D;D;T	0.86627	-2.15;-1.59;-1.34	5.38	4.47	0.54385	.	0.000000	0.43747	D	0.000523	T	0.81837	0.4907	L	0.48642	1.525	0.47476	D	0.999433	P	0.35348	0.496	B	0.31686	0.134	T	0.81562	-0.0876	10	0.52906	T	0.07	.	12.156	0.54077	0.0:0.9163:0.0:0.0837	.	403	O95967	FBLN4_HUMAN	Q	62;403;56	ENSP00000436536:R62Q;ENSP00000309953:R403Q;ENSP00000436526:R56Q	ENSP00000309953:R403Q	R	-	2	0	EFEMP2	65391089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.715000	0.54897	1.421000	0.47157	0.561000	0.74099	CGG	EFEMP2	-	NULL	ENSG00000172638		0.627	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP2	HGNC	protein_coding	OTTHUMT00000391047.4		0.00	46	0	C	NM_016938		65634513	-1			no_errors	ENST00000307998	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T
EFHC2	80258	genome.wustl.edu	37	X	44094659	44094660	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:44094659_44094660insA	ENST00000420999.1	-	9	1397_1398	c.1314_1315insT	c.(1312-1317)tttgcafs	p.A439fs		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	439	DM10 3. {ECO:0000255|PROSITE- ProRule:PRU00665}.						calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						ACTAGTTTTGCAAAAAAACGGA	0.342																																																	0																																										SO:0001589	frameshift_variant	0			AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.1315dupT	X.37:g.44094666_44094666dupA	ENSP00000404232:p.Ala439fs		Q5JST8|Q68DK4|Q8NEI0|Q9H653	Frame_Shift_Ins	INS	pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom	p.A438fs	ENST00000420999.1	37	c.1315_1314	CCDS55405.1	X																																																																																			EFHC2	-	smart_Uncharacterised_DM10	ENSG00000183690		0.342	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	EFHC2	HGNC	protein_coding	OTTHUMT00000056312.2		0.00	23	0	-	NM_025184		44094660	-1	tier1		no_errors	ENST00000420999	ensembl	human	known	74_37	frame_shift_ins	56.52	10	13	INS	1.000:0.996	A
EFTUD1P1	648809	genome.wustl.edu	37	15	84770803	84770803	+	RNA	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:84770803A>G	ENST00000558187.1	+	0	433									elongation factor Tu GTP binding domain containing 1 pseudogene 1																		GTACCTGATTAATCTGATAGA	0.403																																																	0																																												0					15q25.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000259404	ENSG00000259404			31739	pseudogene	pseudogene	"""similar to hypothetical protein FLJ13119"""		"""family with sequence similarity 42, member B"""	FAM42B			Standard	NR_036652		Approved	HsT19321	uc021stg.1		OTTHUMG00000172493		15.37:g.84770803A>G				RNA	SNP	-	NULL	ENST00000558187.1	37	NULL		15																																																																																			EFTUD1P1	-	-	ENSG00000259404		0.403	EFTUD1P1-001	KNOWN	basic	processed_transcript	EFTUD1P1	HGNC	pseudogene	OTTHUMT00000418794.1	-	0.00	134	0	A	NR_036652		84770803	+1	tier1	-	no_errors	ENST00000558187	ensembl	human	known	74_37	rna	42.74	71	53	SNP	1.000	G
EGFLAM	133584	genome.wustl.edu	37	5	38370435	38370435	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:38370435C>T	ENST00000354891.3	+	6	929	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	EGFLAM_ENST00000322350.5_Missense_Mutation_p.R195W	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	195	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)	p.R195W(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AATCCATGAGCGGATCCAGAT	0.498																																					Colon(62;485 1295 3347 17454)												2	Substitution - Missense(2)	lung(2)											98.0	93.0	94.0					5																	38370435		2203	4300	6503	SO:0001583	missense	0			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.583C>T	5.37:g.38370435C>T	ENSP00000346964:p.Arg195Trp		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.R195W	ENST00000354891.3	37	c.583	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.147709	0.94603	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.57595	0.39;0.39	5.82	5.82	0.92795	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.498887	0.22399	N	0.060569	T	0.67144	0.2862	M	0.66439	2.03	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.54270	0.747;0.631	T	0.69176	-0.5214	10	0.72032	D	0.01	-6.8536	19.688	0.95987	0.0:1.0:0.0:0.0	.	195;195	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	W	195	ENSP00000346964:R195W;ENSP00000313084:R195W	ENSP00000313084:R195W	R	+	1	2	EGFLAM	38406192	1.000000	0.71417	0.962000	0.40283	0.958000	0.62258	5.159000	0.64923	2.756000	0.94617	0.561000	0.74099	CGG	EGFLAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000164318		0.498	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	-	0.00	41	0	C	NM_152403		38370435	+1	tier1	-	no_errors	ENST00000354891	ensembl	human	known	74_37	missense	17.71	79	17	SNP	1.000	T
EGLN2	112398	genome.wustl.edu	37	19	41313052	41313052	+	Missense_Mutation	SNP	G	G	A	rs375774477		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:41313052G>A	ENST00000593726.1	+	3	2001	c.973G>A	c.(973-975)Ggc>Agc	p.G325S	EGLN2_ENST00000594140.1_Missense_Mutation_p.G43S|EGLN2_ENST00000303961.4_Missense_Mutation_p.G325S|EGLN2_ENST00000406058.2_Missense_Mutation_p.G325S|RAB4B-EGLN2_ENST00000594136.1_3'UTR|CTC-490E21.12_ENST00000601627.1_Intron			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	325	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GGTGCATGGCGGCCTGCTGCA	0.667											OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G	SER/GLY,SER/GLY	0,4406		0,0,2203	45.0	45.0	45.0		973,973	5.1	1.0	19		45	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EGLN2	NM_053046.3,NM_080732.3	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	325/408,325/408	41313052	1,13005	2203	4300	6503	SO:0001583	missense	0			AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 1"""	606424	"""EGL nine (C.elegans) homolog 2"", ""egl nine homolog 2 (C. elegans)"""				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.973G>A	19.37:g.41313052G>A	ENSP00000469686:p.Gly325Ser	900	A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.G325S	ENST00000593726.1	37	c.973	CCDS12567.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.294284	0.95546	0.0	1.16E-4	ENSG00000171570	ENST00000303961;ENST00000406058	T;T	0.78246	-1.16;-1.16	5.1	5.1	0.69264	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.93684	0.7982	H	0.99516	4.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96326	0.9240	10	0.87932	D	0	-17.814	17.456	0.87607	0.0:0.0:1.0:0.0	.	325	Q96KS0	EGLN2_HUMAN	S	325	ENSP00000307080:G325S;ENSP00000385253:G325S	ENSP00000307080:G325S	G	+	1	0	EGLN2	46004892	1.000000	0.71417	0.977000	0.42913	0.965000	0.64279	9.192000	0.94947	2.644000	0.89710	0.655000	0.94253	GGC	EGLN2	-	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	ENSG00000269858		0.667	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EGLN2	HGNC	protein_coding	OTTHUMT00000463218.1	-	0.00	70	0	G			41313052	+1	tier1	-	no_errors	ENST00000303961	ensembl	human	known	74_37	missense	52.38	20	22	SNP	1.000	A
EGR2	1959	genome.wustl.edu	37	10	64573471	64573473	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:64573471_64573473delGGC	ENST00000242480.3	-	2	1250_1252	c.925_927delGCC	c.(925-927)gccdel	p.A309del	EGR2_ENST00000439032.1_In_Frame_Del_p.A309del|EGR2_ENST00000411732.1_In_Frame_Del_p.A259del|EGR2_ENST00000493899.2_5'Flank	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	309	Poly-Ala.				brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GTGGGTTATAGGCGGCGGCGGCG	0.704																																																	0																																										SO:0001651	inframe_deletion	0			BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.925_927delGCC	10.37:g.64573480_64573482delGGC	ENSP00000242480:p.Ala309del		B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	In_Frame_Del	DEL	pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A309in_frame_del	ENST00000242480.3	37	c.927_925	CCDS7267.1	10																																																																																			EGR2	-	NULL	ENSG00000122877		0.704	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR2	HGNC	protein_coding	OTTHUMT00000048245.2		0.00	52	0	GGC	NM_000399		64573473	-1	tier1		no_errors	ENST00000242480	ensembl	human	known	74_37	in_frame_del	24.07	41	13	DEL	1.000:1.000:0.861	-
SHC4	399694	genome.wustl.edu	37	15	49170653	49170653	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:49170653G>A	ENST00000332408.4	-	4	1269				SHC4_ENST00000537958.1_5'Flank|EID1_ENST00000558295.1_Intron|EID1_ENST00000560490.1_Missense_Mutation_p.E72K|EID1_ENST00000530028.2_Missense_Mutation_p.E94K|SHC4_ENST00000396535.3_5'Flank	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CGCAGACTTCGAGAGCGAGGA	0.652																																																	0													23.0	27.0	26.0					15																	49170653		2045	4191	6236	SO:0001627	intron_variant	0			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.840+5791C>T	15.37:g.49170653G>A			Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	NULL	p.E94K	ENST00000332408.4	37	c.280	CCDS10130.1	15	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267315	0.59540	.	.	ENSG00000255302	ENST00000530028	T	0.35973	1.28	3.81	3.81	0.43845	.	.	.	.	.	T	0.18676	0.0448	N	0.16478	0.41	0.80722	D	1	D	0.52996	0.957	B	0.35688	0.208	T	0.03025	-1.1081	9	0.33141	T	0.24	.	11.501	0.50437	0.0:0.0:1.0:0.0	.	94	Q9Y6B2	EID1_HUMAN	K	94	ENSP00000431162:E94K	ENSP00000431162:E94K	E	+	1	0	EID1	46957945	0.954000	0.32549	0.824000	0.32777	0.997000	0.91878	1.308000	0.33528	2.418000	0.82041	0.655000	0.94253	GAG	EID1	-	NULL	ENSG00000255302		0.652	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EID1	HGNC	protein_coding	OTTHUMT00000254371.1	-	0.00	90	0	G	NM_203349		49170653	+1	tier1	-	no_errors	ENST00000530028	ensembl	human	known	74_37	missense	46.48	38	33	SNP	0.846	A
EIF2A	83939	genome.wustl.edu	37	3	150293481	150293481	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:150293481G>A	ENST00000460851.1	+	11	1538	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000273435.5_Missense_Mutation_p.D472N|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000482471.1_Intron|EIF2A_ENST00000383043.3_Missense_Mutation_p.D263N|EIF2A_ENST00000406576.3_Missense_Mutation_p.D416N|EIF2A_ENST00000487799.1_Missense_Mutation_p.D452N			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	477					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ATCAGGAAACGATAAGCCATT	0.353																																																	0													75.0	69.0	71.0					3																	150293481		1833	4081	5914	SO:0001583	missense	0			AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1429G>A	3.37:g.150293481G>A	ENSP00000417229:p.Asp477Asn		A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	pfam_TIF_beta_prop-like,pirsf_TIF2A	p.D477N	ENST00000460851.1	37	c.1429	CCDS46935.1	3	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155908	0.57259	.	.	ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000273435;ENST00000383043	T;T;T;T;T	0.41065	1.57;1.57;1.57;1.57;1.01	5.57	5.57	0.84162	.	0.215223	0.46758	D	0.000267	T	0.37461	0.1004	L	0.41710	1.295	0.51482	D	0.999923	B;B;B	0.27910	0.193;0.031;0.071	B;B;B	0.23852	0.049;0.009;0.018	T	0.09465	-1.0673	10	0.25106	T	0.35	-11.1353	19.5529	0.95328	0.0:0.0:1.0:0.0	.	416;452;477	B4DF96;B4DQ14;Q9BY44	.;.;EIF2A_HUMAN	N	452;477;416;472;263	ENSP00000420537:D452N;ENSP00000417229:D477N;ENSP00000385292:D416N;ENSP00000273435:D472N;ENSP00000372513:D263N	ENSP00000273435:D472N	D	+	1	0	EIF2A	151776171	1.000000	0.71417	0.997000	0.53966	0.917000	0.54804	6.986000	0.76200	2.621000	0.88768	0.655000	0.94253	GAT	EIF2A	-	pirsf_TIF2A	ENSG00000144895		0.353	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EIF2A	HGNC	protein_coding	OTTHUMT00000357259.2	-	0.00	20	0	G	NM_032025		150293481	+1	tier1	-	no_errors	ENST00000460851	ensembl	human	known	74_37	missense	51.43	17	18	SNP	1.000	A
EIF2AK4	440275	genome.wustl.edu	37	15	40280227	40280227	+	Missense_Mutation	SNP	A	A	G	rs370476691		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:40280227A>G	ENST00000263791.5	+	15	2490	c.2447A>G	c.(2446-2448)cAg>cGg	p.Q816R	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.Q788R	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	816	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACCATTGACCAGGGACTGTAT	0.398																																																	0								A	ARG/GLN	0,3786		0,0,1893	162.0	151.0	154.0		2447	5.8	1.0	15		154	2,8246		0,2,4122	no	missense	EIF2AK4	NM_001013703.2	43	0,2,6015	GG,GA,AA		0.0242,0.0,0.0166	benign	816/1650	40280227	2,12032	1893	4124	6017	SO:0001583	missense	0			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2447A>G	15.37:g.40280227A>G	ENSP00000263791:p.Gln816Arg		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom	p.Q816R	ENST00000263791.5	37	c.2447	CCDS42016.1	15	.	.	.	.	.	.	.	.	.	.	A	15.48	2.846203	0.51164	0.0	2.42E-4	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.64085	-0.08;-0.08	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.173324	0.52532	D	0.000069	T	0.45236	0.1332	N	0.20357	0.565	0.44611	D	0.997584	B	0.16166	0.016	B	0.19148	0.024	T	0.38023	-0.9680	10	0.20519	T	0.43	-18.6042	11.2329	0.48923	0.927:0.0:0.073:0.0	.	816	Q9P2K8	E2AK4_HUMAN	R	816;788	ENSP00000263791:Q816R;ENSP00000372174:Q788R	ENSP00000263791:Q816R	Q	+	2	0	EIF2AK4	38067519	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.846000	0.69444	2.226000	0.72624	0.482000	0.46254	CAG	EIF2AK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_Prot_kinase_dom	ENSG00000128829		0.398	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1	-	0.00	83	0	A			40280227	+1	tier1	-	no_errors	ENST00000263791	ensembl	human	known	74_37	missense	49.23	33	32	SNP	1.000	G
EIF2AK4	440275	genome.wustl.edu	37	15	40309342	40309342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:40309342C>T	ENST00000263791.5	+	29	4007	c.3964C>T	c.(3964-3966)Cag>Tag	p.Q1322*	EIF2AK4_ENST00000382727.2_Nonsense_Mutation_p.Q1294*	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1322	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TTACAAGGTGCAGCAGCACAA	0.433																																																	0													181.0	164.0	169.0					15																	40309342		1901	4146	6047	SO:0001587	stop_gained	0			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3964C>T	15.37:g.40309342C>T	ENSP00000263791:p.Gln1322*		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom	p.Q1322*	ENST00000263791.5	37	c.3964	CCDS42016.1	15	.	.	.	.	.	.	.	.	.	.	C	42	9.543941	0.99201	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	.	.	.	5.97	5.97	0.96955	.	0.056827	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-9.5584	20.4388	0.99107	0.0:1.0:0.0:0.0	.	.	.	.	X	1322;1294	.	ENSP00000263791:Q1322X	Q	+	1	0	EIF2AK4	38096634	1.000000	0.71417	0.997000	0.53966	0.893000	0.52053	7.794000	0.85869	2.836000	0.97738	0.655000	0.94253	CAG	EIF2AK4	-	pirsf_Ser/Thr_kinase_GCN2	ENSG00000128829		0.433	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1	-	0.00	76	0	C			40309342	+1	tier1	-	no_errors	ENST00000263791	ensembl	human	known	74_37	nonsense	5.13	74	4	SNP	1.000	T
EIF2AK4	440275	genome.wustl.edu	37	15	40326639	40326639	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:40326639delA	ENST00000263791.5	+	38	4929	c.4886delA	c.(4885-4887)gaafs	p.E1629fs	EIF2AK4_ENST00000382727.2_Frame_Shift_Del_p.E1601fs|SRP14_ENST00000558527.1_5'Flank	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1629					cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ATCAAAGTAGAAAAAAAGTAA	0.398																																																	0													69.0	63.0	65.0					15																	40326639		1832	4106	5938	SO:0001589	frameshift_variant	0			AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.4886delA	15.37:g.40326639delA	ENSP00000263791:p.Glu1629fs		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom	p.K1631fs	ENST00000263791.5	37	c.4886	CCDS42016.1	15																																																																																			EIF2AK4	-	pirsf_Ser/Thr_kinase_GCN2	ENSG00000128829		0.398	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	HGNC	protein_coding	OTTHUMT00000418395.1		0.00	66	0	A			40326639	+1	tier1		no_errors	ENST00000263791	ensembl	human	known	74_37	frame_shift_del	32.84	45	22	DEL	1.000	-
EIF2D	1939	genome.wustl.edu	37	1	206765123	206765123	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:206765123G>A	ENST00000271764.2	-	15	1947	c.1739C>T	c.(1738-1740)cCt>cTt	p.P580L	EIF2D_ENST00000367114.3_Missense_Mutation_p.P456L|EIF2D_ENST00000472709.2_Intron	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	580					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTTCTTGCCAGGTTTGAGGGC	0.468																																																	0													199.0	186.0	190.0					1																	206765123		2203	4300	6503	SO:0001583	missense	0			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1739C>T	1.37:g.206765123G>A	ENSP00000271764:p.Pro580Leu		Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1	p.P580L	ENST00000271764.2	37	c.1739	CCDS1465.1	1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883718	0.51908	.	.	ENSG00000143486	ENST00000367114;ENST00000271764	T;T	0.44482	0.92;1.51	5.93	5.93	0.95920	.	0.440276	0.28047	N	0.016806	T	0.27241	0.0668	N	0.19112	0.55	0.46725	D	0.99917	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.08391	-1.0724	10	0.26408	T	0.33	-9.2483	10.5523	0.45097	0.0907:0.0:0.9093:0.0	.	456;580	P41214-2;P41214	.;EIF2D_HUMAN	L	456;580	ENSP00000356081:P456L;ENSP00000271764:P580L	ENSP00000271764:P580L	P	-	2	0	EIF2D	204831746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.998000	0.63927	2.805000	0.96524	0.655000	0.94253	CCT	EIF2D	-	NULL	ENSG00000143486		0.468	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2D	HGNC	protein_coding	OTTHUMT00000088475.1	-	0.00	87	0	G	NM_006893		206765123	-1	tier1	-	no_errors	ENST00000271764	ensembl	human	known	74_37	missense	21.09	101	27	SNP	1.000	A
EIF4B	1975	genome.wustl.edu	37	12	53400172	53400172	+	5'UTR	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:53400172delC	ENST00000262056.9	+	0	231				EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_5'Flank|EIF4B_ENST00000416762.3_5'Flank	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CACCTCCCCGCCCCCTCCCAG	0.652																																																	0																																										SO:0001623	5_prime_UTR_variant	0			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.-96C>-	12.37:g.53400172delC			Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	RNA	DEL	-	NULL	ENST00000262056.9	37	NULL	CCDS41788.1	12																																																																																			EIF4B	-	-	ENSG00000063046		0.652	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4B	HGNC	protein_coding	OTTHUMT00000404852.2		0.00	50	0	C	NM_001417		53400172	+1	tier1		no_errors	ENST00000551527	ensembl	human	known	74_37	rna	22.45	38	11	DEL	1.000	-
EIF4E1B	253314	genome.wustl.edu	37	5	176070674	176070674	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:176070674C>T	ENST00000318682.6	+	5	819	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	EIF4E1B_ENST00000504597.1_Missense_Mutation_p.R79W	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	79					regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACCGCAGCCGGGCCTGGCA	0.647																																																	0													26.0	30.0	29.0					5																	176070674		2035	4170	6205	SO:0001583	missense	0				CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766			33179	protein-coding gene	gene with protein product						16191198	Standard	NM_001099408		Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.235C>T	5.37:g.176070674C>T	ENSP00000323714:p.Arg79Trp			Missense_Mutation	SNP	pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom	p.R79W	ENST00000318682.6	37	c.235	CCDS47345.1	5	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055725	0.75960	.	.	ENSG00000175766	ENST00000318682;ENST00000510660;ENST00000504597	T;T;T	0.43688	0.94;0.94;0.94	5.33	2.21	0.28008	Translation Initiation factor eIF- 4e-like  domain (2);	0.266912	0.31312	N	0.007867	T	0.61324	0.2338	M	0.70275	2.135	0.39318	D	0.965207	D	0.89917	1.0	D	0.76071	0.987	T	0.67772	-0.5584	10	0.87932	D	0	.	13.774	0.63041	0.4411:0.5589:0.0:0.0	.	79	A6NMX2	I4E1B_HUMAN	W	79	ENSP00000323714:R79W;ENSP00000421009:R79W;ENSP00000427633:R79W	ENSP00000323714:R79W	R	+	1	2	EIF4E1B	176003280	1.000000	0.71417	0.825000	0.32803	0.995000	0.86356	1.937000	0.40193	0.621000	0.30232	0.491000	0.48974	CGG	EIF4E1B	-	pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom	ENSG00000175766		0.647	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4E1B	HGNC	protein_coding	OTTHUMT00000372187.1	-	0.00	56	0	C	NM_001099408		176070674	+1	tier1	-	no_errors	ENST00000318682	ensembl	human	known	74_37	missense	49.15	30	29	SNP	1.000	T
EIF4EBP2	1979	genome.wustl.edu	37	10	72179687	72179687	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:72179687G>T	ENST00000373218.4	+	2	186	c.163G>T	c.(163-165)Gac>Tac	p.D55Y		NM_004096.4	NP_004087.1	Q13542	4EBP2_HUMAN	eukaryotic translation initiation factor 4E binding protein 2	55					cAMP-mediated signaling (GO:0019933)|insulin receptor signaling pathway (GO:0008286)|negative regulation of translational initiation (GO:0045947)|translation (GO:0006412)					large_intestine(1)	1						AATCATTTATGACAGAAAGTT	0.428																																																	0													100.0	102.0	101.0					10																	72179687		2203	4300	6503	SO:0001583	missense	0				CCDS7303.1	10q21-q22	2008-08-01			ENSG00000148730	ENSG00000148730			3289	protein-coding gene	gene with protein product		602224				7935836, 8975712	Standard	NM_004096		Approved		uc001jrb.3	Q13542	OTTHUMG00000018409	ENST00000373218.4:c.163G>T	10.37:g.72179687G>T	ENSP00000362314:p.Asp55Tyr			Missense_Mutation	SNP	pfam_EIF4EBP	p.D55Y	ENST00000373218.4	37	c.163	CCDS7303.1	10	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662647	0.88251	.	.	ENSG00000148730	ENST00000373218	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.77384	0.4122	M	0.84219	2.685	0.80722	D	1	D	0.57899	0.981	P	0.54815	0.761	T	0.80185	-0.1487	9	0.62326	D	0.03	-13.1135	18.6601	0.91469	0.0:0.0:1.0:0.0	.	55	Q13542	4EBP2_HUMAN	Y	55	.	ENSP00000362314:D55Y	D	+	1	0	EIF4EBP2	71849693	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.117000	0.94347	2.781000	0.95711	0.650000	0.86243	GAC	EIF4EBP2	-	pfam_EIF4EBP	ENSG00000148730		0.428	EIF4EBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4EBP2	HGNC	protein_coding	OTTHUMT00000048513.1		0.00	28	0	G	NM_004096		72179687	+1			no_errors	ENST00000373218	ensembl	human	known	74_37	missense	8.57	32	3	SNP	1.000	T
EIF4G1	1981	genome.wustl.edu	37	3	184045617	184045617	+	Splice_Site	SNP	G	G	T	rs112194994		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:184045617G>T	ENST00000346169.2	+	26	4051		c.e26-1		EIF4G1_ENST00000414031.1_Splice_Site|EIF4G1_ENST00000392537.2_Splice_Site|EIF4G1_ENST00000434061.2_Splice_Site|EIF4G1_ENST00000427845.1_Splice_Site|EIF4G1_ENST00000350481.5_Splice_Site|EIF4G1_ENST00000424196.1_Splice_Site|EIF4G1_ENST00000435046.2_Splice_Site|EIF4G1_ENST00000319274.6_Splice_Site|EIF4G1_ENST00000441154.1_Splice_Site|EIF4G1_ENST00000411531.1_Splice_Site|EIF4G1_ENST00000342981.4_Splice_Site|EIF4G1_ENST00000352767.3_Splice_Site|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Splice_Site|SNORD66_ENST00000390856.1_RNA	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1						cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.?(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCACCCCTCAGGAGGCAGTCC	0.617																																																	1	Unknown(1)	skin(1)											69.0	61.0	64.0					3																	184045617		2203	4300	6503	SO:0001630	splice_region_variant	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3781-1G>T	3.37:g.184045617G>T			D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Splice_Site	SNP	-	e25-1	ENST00000346169.2	37	c.3802-1	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877220	0.72294	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF4G1	185528311	1.000000	0.71417	0.999000	0.59377	0.681000	0.39784	7.649000	0.83500	2.941000	0.99782	0.655000	0.94253	.	EIF4G1	-	-	ENSG00000114867		0.617	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1		0.00	22	0	G	NM_182917	Intron	184045617	+1			no_errors	ENST00000352767	ensembl	human	known	74_37	splice_site	8.70	21	2	SNP	1.000	T
ELAVL1	1994	genome.wustl.edu	37	19	8028566	8028566	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:8028566C>A	ENST00000407627.2	-	6	911	c.782G>T	c.(781-783)tGg>tTg	p.W261L	ELAVL1_ENST00000351593.5_Missense_Mutation_p.W288L|ELAVL1_ENST00000593807.1_3'UTR|ELAVL1_ENST00000596459.1_Missense_Mutation_p.W261L	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	261	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAACATCTGCCAGAGGATCCC	0.557																																																	0													111.0	95.0	100.0					19																	8028566		2203	4300	6503	SO:0001583	missense	0			U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.782G>T	19.37:g.8028566C>A	ENSP00000385269:p.Trp261Leu		B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.W288L	ENST00000407627.2	37	c.863	CCDS12193.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157050	0.78114	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.15017	2.46;2.46	5.66	5.66	0.87406	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.19485	0.0468	N	0.02181	-0.65	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.52540	-0.8562	10	0.72032	D	0.01	.	17.2498	0.87039	0.0:1.0:0.0:0.0	.	261	Q15717	ELAV1_HUMAN	L	261;288	ENSP00000385269:W261L;ENSP00000264073:W288L	ENSP00000264073:W288L	W	-	2	0	ELAVL1	7934566	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.665000	0.90641	0.655000	0.94253	TGG	ELAVL1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000066044		0.557	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAVL1	HGNC	protein_coding	OTTHUMT00000461494.3	-	0.00	50	0	C	NM_001419		8028566	-1	tier1	-	no_errors	ENST00000351593	ensembl	human	known	74_37	missense	41.30	27	19	SNP	1.000	A
ELAVL2	1993	genome.wustl.edu	37	9	23692567	23692567	+	Silent	SNP	C	C	T	rs372576559		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:23692567C>T	ENST00000397312.2	-	7	1342	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	ELAVL2_ENST00000380117.1_Silent_p.T356T|ELAVL2_ENST00000380110.4_Silent_p.T386T|ELAVL2_ENST00000223951.6_Silent_p.T343T|ELAVL2_ENST00000544538.1_Silent_p.T356T	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	356					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AGGCTTTGTGCGTTTTGTTTG	0.398																																																	0								C	,,	0,4406		0,0,2203	50.0	48.0	49.0		1029,1029,1068	5.9	1.0	9		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ELAVL2	NM_001171195.1,NM_001171197.1,NM_004432.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	343/347,343/347,356/360	23692567	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.1068G>A	9.37:g.23692567C>T			D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.T356	ENST00000397312.2	37	c.1068	CCDS6515.1	9																																																																																			ELAVL2	-	tigrfam_ELAD_HUD_SF	ENSG00000107105		0.398	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	ELAVL2	HGNC	protein_coding	OTTHUMT00000051943.2	-	0.00	27	0	C	NM_004432		23692567	-1	tier1	-	no_errors	ENST00000380117	ensembl	human	known	74_37	silent	32.56	29	14	SNP	1.000	T
ELAVL3	1995	genome.wustl.edu	37	19	11591485	11591485	+	5'UTR	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:11591485delG	ENST00000359227.3	-	0	363				ELAVL3_ENST00000438662.2_5'Flank|ELAVL3_ENST00000592218.1_5'UTR|CTC-398G3.6_ENST00000585656.1_Intron	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3						cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGCACTCCTAGGGGGGCGCCC	0.711																																																	0													7.0	8.0	7.0					19																	11591485		681	1581	2262	SO:0001623	5_prime_UTR_variant	0				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.-62C>-	19.37:g.11591485delG			Q16135|Q96CL8|Q96QS9	RNA	DEL	-	NULL	ENST00000359227.3	37	NULL	CCDS32912.1	19																																																																																			ELAVL3	-	-	ENSG00000196361		0.711	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELAVL3	HGNC	protein_coding	OTTHUMT00000458827.2		0.00	62	0	G	NM_001420		11591485	-1	tier1		no_errors	ENST00000592218	ensembl	human	putative	74_37	rna	46.77	33	29	DEL	0.999	-
ELL2	22936	genome.wustl.edu	37	5	95297452	95297452	+	5'UTR	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:95297452G>A	ENST00000237853.4	-	0	323				ELL2_ENST00000506628.1_5'UTR|CTD-2337A12.1_ENST00000511775.1_RNA|ELL2_ENST00000431061.2_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2						regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		Tgccgccgccgccgccgctcc	0.721																																																	0													3.0	5.0	5.0					5																	95297452		1495	3114	4609	SO:0001623	5_prime_UTR_variant	0			U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.-27C>T	5.37:g.95297452G>A			B4DNK7	RNA	SNP	-	NULL	ENST00000237853.4	37	NULL	CCDS4080.1	5																																																																																			ELL2	-	-	ENSG00000118985		0.721	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL2	HGNC	protein_coding	OTTHUMT00000242846.1	-	0.00	19	0	G	NM_012081		95297452	-1	tier1	-	no_errors	ENST00000506628	ensembl	human	known	74_37	rna	42.86	7	6	SNP	1.000	A
ELMO2	63916	genome.wustl.edu	37	20	45014792	45014792	+	Silent	SNP	G	G	A	rs145510870		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:45014792G>A	ENST00000290246.6	-	9	842	c.648C>T	c.(646-648)acC>acT	p.T216T	ELMO2_ENST00000445496.2_Silent_p.T33T|ELMO2_ENST00000352077.2_Silent_p.T214T|ELMO2_ENST00000372176.1_Silent_p.T128T|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Silent_p.T216T|ELMO2_ENST00000439931.2_Silent_p.T216T	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	216					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GCTGTCCCACGGTGATTTCCT	0.507																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	131.0	121.0	124.0		648,648	1.6	1.0	20	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ELMO2	NM_133171.3,NM_182764.1	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	216/721,216/721	45014792	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.648C>T	20.37:g.45014792G>A			E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Silent	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.T216	ENST00000290246.6	37	c.648	CCDS13398.1	20																																																																																			ELMO2	-	pfam_DUF3361,superfamily_ARM-type_fold	ENSG00000062598		0.507	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	-	0.00	30	0	G	NM_022086		45014792	-1	tier1	rs145510870	no_errors	ENST00000439931	ensembl	human	known	74_37	silent	24.00	19	6	SNP	1.000	A
ELMO3	79767	genome.wustl.edu	37	16	67236803	67236803	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:67236803G>A	ENST00000360833.1	+	15	1736	c.1679G>A	c.(1678-1680)cGg>cAg	p.R560Q	ELMO3_ENST00000477898.1_Missense_Mutation_p.R411Q|ELMO3_ENST00000393997.2_Missense_Mutation_p.R577Q|MIR328_ENST00000385213.1_RNA			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	524	PH.				apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		AGGGAGCTGCGGGAGAAGCTG	0.647																																																	0													37.0	45.0	42.0					16																	67236803		2115	4242	6357	SO:0001583	missense	0				CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"""Engulfment and cell motility proteins"""	17289	protein-coding gene	gene with protein product		606422	"""engulfment and cell motility 3 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.1679G>A	16.37:g.67236803G>A	ENSP00000354077:p.Arg560Gln		B4DV86|Q9H8A5	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.R577Q	ENST00000360833.1	37	c.1730		16	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204779	0.79127	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.50277	0.75;0.75	5.69	5.69	0.88448	.	0.050061	0.85682	D	0.000000	T	0.65291	0.2677	M	0.66378	2.025	0.52501	D	0.999955	D;D;D	0.71674	0.997;0.998;0.998	P;P;P	0.59889	0.671;0.865;0.865	T	0.67639	-0.5619	10	0.87932	D	0	-30.8886	18.3833	0.90457	0.0:0.0:1.0:0.0	.	524;560;577	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	Q	560;577	ENSP00000354077:R560Q;ENSP00000377566:R577Q	ENSP00000354077:R560Q	R	+	2	0	ELMO3	65794304	0.974000	0.33945	0.996000	0.52242	0.906000	0.53458	4.167000	0.58209	2.688000	0.91661	0.561000	0.74099	CGG	ELMO3	-	NULL	ENSG00000102890		0.647	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	ELMO3	HGNC	protein_coding	OTTHUMT00000257667.2	-	0.00	52	0	G	NM_024712		67236803	+1	tier1	-	no_errors	ENST00000393997	ensembl	human	known	74_37	missense	50.00	20	20	SNP	1.000	A
ELMSAN1	91748	genome.wustl.edu	37	14	74205773	74205773	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:74205773delG	ENST00000286523.5	-	2	1721	c.939delC	c.(937-939)cccfs	p.P313fs	ELMSAN1_ENST00000394071.2_Frame_Shift_Del_p.P313fs|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	313	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										TATCTGGGTTGGGGGGGAAGG	0.662																																																	0													21.0	22.0	22.0					14																	74205773		2203	4299	6502	SO:0001589	frameshift_variant	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.939delC	14.37:g.74205773delG	ENSP00000286523:p.Pro313fs		Q6PK13|Q6PK59|Q6ZS23	Frame_Shift_Del	DEL	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.N314fs	ENST00000286523.5	37	c.939	CCDS9819.1	14																																																																																			ELMSAN1	-	NULL	ENSG00000156030		0.662	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMSAN1	HGNC	protein_coding	OTTHUMT00000317793.1		0.00	50	0	G	NM_194278		74205773	-1	tier1		no_errors	ENST00000286523	ensembl	human	known	74_37	frame_shift_del	41.67	14	10	DEL	0.000	-
ELOVL2	54898	genome.wustl.edu	37	6	10995330	10995330	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:10995330delT	ENST00000354666.3	-	5	498	c.415delA	c.(415-417)acgfs	p.T139fs		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	139					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			ATCTGACTCGTTTTTTTCCGC	0.368																																																	0													130.0	124.0	126.0					6																	10995330		2203	4300	6503	SO:0001589	frameshift_variant	0			AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"""			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.415delA	6.37:g.10995330delT	ENSP00000346693:p.Thr139fs		Q6P9E1|Q86W94	Frame_Shift_Del	DEL	pfam_GNS1_SUR4	p.T139fs	ENST00000354666.3	37	c.415	CCDS4518.1	6																																																																																			ELOVL2	-	pfam_GNS1_SUR4	ENSG00000197977		0.368	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL2	HGNC	protein_coding	OTTHUMT00000039849.1		0.00	54	0	T			10995330	-1	tier1		no_errors	ENST00000354666	ensembl	human	known	74_37	frame_shift_del	13.89	31	5	DEL	1.000	-
ELP2	55250	genome.wustl.edu	37	18	33725927	33725927	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:33725927G>T	ENST00000358232.6	+	10	972	c.909G>T	c.(907-909)caG>caT	p.Q303H	ELP2_ENST00000542824.1_Missense_Mutation_p.Q277H|ELP2_ENST00000351393.6_Missense_Mutation_p.Q277H|ELP2_ENST00000350494.6_Missense_Mutation_p.Q342H|ELP2_ENST00000442325.2_Missense_Mutation_p.Q368H|ELP2_ENST00000423854.2_Missense_Mutation_p.Q233H	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	303					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TCCTACAGCAGCCAGTGAGAT	0.383																																																	0													163.0	176.0	172.0					18																	33725927		2203	4300	6503	SO:0001583	missense	0			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.909G>T	18.37:g.33725927G>T	ENSP00000350967:p.Gln303His		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q303H	ENST00000358232.6	37	c.909	CCDS11918.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.30|13.30	2.196630|2.196630	0.38806|0.38806	.|.	.|.	ENSG00000134759|ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824|ENST00000535093	T;T;T;T;T;T|.	0.62498|.	0.09;0.22;1.05;0.76;0.02;0.27|.	5.37|5.37	1.55|1.55	0.23275|0.23275	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);WD40-repeat-containing domain (1);|.	0.052332|.	0.85682|.	N|.	0.000000|.	T|T	0.34279|0.34279	0.0892|0.0892	N|N	0.17082|0.17082	0.46|0.46	0.58432|0.58432	D|D	0.999998|0.999998	B;B;B;B;B;B|.	0.31054|.	0.306;0.105;0.116;0.048;0.048;0.148|.	B;B;B;B;B;B|.	0.41202|.	0.35;0.25;0.199;0.082;0.152;0.199|.	T|T	0.04165|0.04165	-1.0972|-1.0972	10|5	0.42905|.	T|.	0.14|.	-3.2395|-3.2395	5.8516|5.8516	0.18696|0.18696	0.2074:0.0:0.6513:0.1413|0.2074:0.0:0.6513:0.1413	.|.	342;368;233;277;277;303|.	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86|.	.;.;.;.;.;ELP2_HUMAN|.	H|I	303;277;368;233;342;277|124	ENSP00000350967:Q303H;ENSP00000257191:Q277H;ENSP00000414851:Q368H;ENSP00000391202:Q233H;ENSP00000316051:Q342H;ENSP00000443800:Q277H|.	ENSP00000316051:Q342H|.	Q|S	+|+	3|2	2|0	ELP2|ELP2	31979925|31979925	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.882000|0.882000	0.50991|0.50991	1.955000|1.955000	0.40372|0.40372	0.003000|0.003000	0.14656|0.14656	0.305000|0.305000	0.20034|0.20034	CAG|AGC	ELP2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000134759		0.383	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	-	0.00	37	0	G	NM_018255		33725927	+1	tier1	-	no_errors	ENST00000358232	ensembl	human	known	74_37	missense	8.20	56	5	SNP	1.000	T
ELP3	55140	genome.wustl.edu	37	8	27987107	27987107	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:27987107T>C	ENST00000256398.8	+	8	1083	c.706T>C	c.(706-708)Ttg>Ctg	p.L236L	ELP3_ENST00000537665.1_Silent_p.L117L|ELP3_ENST00000524103.1_Silent_p.L164L|ELP3_ENST00000521015.1_Silent_p.L222L|ELP3_ENST00000542181.1_Silent_p.L107L|ELP3_ENST00000380353.4_Silent_p.L144L	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	236					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AAGTGACATGTTGACCTATGG	0.448																																																	0													211.0	197.0	202.0					8																	27987107		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.706T>C	8.37:g.27987107T>C			B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Silent	SNP	pfam_rSAM,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3	p.L236	ENST00000256398.8	37	c.706	CCDS6065.1	8																																																																																			ELP3	-	pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,tigrfam_Hist_AcTrfase_ELP3	ENSG00000134014		0.448	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP3	HGNC	protein_coding	OTTHUMT00000219963.2	-	0.00	84	0	T	NM_018091		27987107	+1	tier1	-	no_errors	ENST00000256398	ensembl	human	known	74_37	silent	21.71	101	28	SNP	1.000	C
ELP4	26610	genome.wustl.edu	37	11	31561258	31561258	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:31561258G>T	ENST00000350638.5	+	3	344	c.309G>T	c.(307-309)ctG>ctT	p.L103L	ELP4_ENST00000395934.2_Silent_p.L103L|ELP4_ENST00000379163.5_Silent_p.L103L	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	103					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AGTATTTCCTGGCAGAAGGAA	0.338																																																	0													195.0	162.0	172.0					11																	31561258		1821	4077	5898	SO:0001819	synonymous_variant	0			AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.309G>T	11.37:g.31561258G>T			B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Silent	SNP	pfam_Elongator_complex_protein_4,superfamily_P-loop_NTPase	p.L103	ENST00000350638.5	37	c.309	CCDS7875.2	11																																																																																			ELP4	-	pfam_Elongator_complex_protein_4	ENSG00000109911		0.338	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP4	HGNC	protein_coding	OTTHUMT00000286640.1	-	0.00	63	0	G	NM_019040		31561258	+1	tier1	-	no_errors	ENST00000395934	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	T
EMC3	55831	genome.wustl.edu	37	3	10015329	10015329	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:10015329G>T	ENST00000245046.2	-	5	935	c.477C>A	c.(475-477)ctC>ctA	p.L159L	EMC3_ENST00000429759.1_Silent_p.L197L|EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1	Q9P0I2	EMC3_HUMAN	ER membrane protein complex subunit 3	159						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CATCTAATGTGAGTAGCTCGA	0.438																																																	0													127.0	122.0	124.0					3																	10015329		2203	4300	6503	SO:0001819	synonymous_variant	0			AF157321	CCDS2594.1	3p25.3	2012-05-23	2012-05-23	2012-05-23	ENSG00000125037	ENSG00000125037			23999	protein-coding gene	gene with protein product			"""transmembrane protein 111"""	TMEM111		19797678, 22119785	Standard	NM_018447		Approved		uc003bun.3	Q9P0I2	OTTHUMG00000128652	ENST00000245046.2:c.477C>A	3.37:g.10015329G>T			B2R4Z9|Q53GH8|Q6ZMC2	Silent	SNP	pfam_DUF106_TM,pirsf_UCP010045_TM_euk	p.L159	ENST00000245046.2	37	c.477	CCDS2594.1	3																																																																																			EMC3	-	pfam_DUF106_TM,pirsf_UCP010045_TM_euk	ENSG00000125037		0.438	EMC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC3	HGNC	protein_coding	OTTHUMT00000250532.1	-	0.00	73	0	G	NM_018447		10015329	-1	tier1	-	no_errors	ENST00000245046	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.942	T
ENKUR	219670	genome.wustl.edu	37	10	25288338	25288339	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:25288338_25288339delAG	ENST00000331161.4	-	2	433_434	c.214_215delCT	c.(214-216)ctafs	p.L72fs	ENKUR_ENST00000376363.1_Frame_Shift_Del_p.L72fs	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	72						motile cilium (GO:0031514)				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						ACTGGGTGGTAGAGTTTTTTCC	0.312																																																	0																																										SO:0001589	frameshift_variant	0			AK095021	CCDS7146.1, CCDS73075.1	10p12.31	2014-08-13	2009-04-28	2009-04-28	ENSG00000151023	ENSG00000151023			28388	protein-coding gene	gene with protein product		611025	"""chromosome 10 open reading frame 63"""	C10orf63		17217053, 15385169	Standard	NM_145010		Approved	MGC26778, enkurin, CFAP106	uc001isg.2	Q8TC29	OTTHUMG00000017827	ENST00000331161.4:c.214_215delCT	10.37:g.25288340_25288341delAG	ENSP00000331044:p.Leu72fs		A8K8Y0|D3DRV2	Frame_Shift_Del	DEL	NULL	p.L72fs	ENST00000331161.4	37	c.215_214	CCDS7146.1	10																																																																																			ENKUR	-	NULL	ENSG00000151023		0.312	ENKUR-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENKUR	HGNC	protein_coding	OTTHUMT00000047239.2		0.00	45	0	AG	NM_145010		25288339	-1	tier1		no_errors	ENST00000331161	ensembl	human	known	74_37	frame_shift_del	47.30	39	35	DEL	0.376:0.161	-
EMX2	2018	genome.wustl.edu	37	10	119305214	119305214	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:119305214G>A	ENST00000553456.3	+	2	1302	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	EMX2_ENST00000442245.4_Intron|EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	160					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		GATCCGAACCGCCTTCTCCCC	0.592																																																	0													62.0	53.0	56.0					10																	119305214		2203	4300	6503	SO:0001583	missense	0			AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.478G>A	10.37:g.119305214G>A	ENSP00000450962:p.Ala160Thr		G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif	p.A160T	ENST00000553456.3	37	c.478	CCDS7601.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.291251	0.97449	.	.	ENSG00000170370	ENST00000369201	.	.	.	5.9	5.9	0.94986	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.63022	0.2476	N	0.17474	0.49	0.80722	D	1	D	0.65815	0.995	D	0.63877	0.919	T	0.64339	-0.6431	9	0.46703	T	0.11	-16.8962	20.2806	0.98513	0.0:0.0:1.0:0.0	.	160	Q04743	EMX2_HUMAN	T	160	.	ENSP00000358202:A160T	A	+	1	0	EMX2	119295204	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.795000	0.96236	0.643000	0.83706	GCC	EMX2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000170370		0.592	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMX2	HGNC	protein_coding	OTTHUMT00000050569.4	-	0.00	88	0	G	NM_004098		119305214	+1	tier1	-	no_errors	ENST00000553456	ensembl	human	known	74_37	missense	43.75	45	35	SNP	1.000	A
ENO1	2023	genome.wustl.edu	37	1	8927293	8927293	+	Silent	SNP	G	G	A	rs569194886		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:8927293G>A	ENST00000234590.4	-	6	446	c.327C>T	c.(325-327)aaC>aaT	p.N109N		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	109	Required for repression of c-myc promoter activity.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGAATGGCGTTCGCACCAA	0.537													g|||	1	0.000199681	0.0	0.0	5008	,	,		19758	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(21;302 608 19946 22210 33560)												0													85.0	89.0	88.0					1																	8927293		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.327C>T	1.37:g.8927293G>A			B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Silent	SNP	pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.N109	ENST00000234590.4	37	c.327	CCDS97.1	1																																																																																			ENO1	-	pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	ENSG00000074800		0.537	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO1	HGNC	protein_coding	OTTHUMT00000004945.1	-	0.00	52	0	G	NM_001428		8927293	-1	tier1	-	no_errors	ENST00000234590	ensembl	human	known	74_37	silent	38.30	29	18	SNP	0.971	A
ENO4	387712	genome.wustl.edu	37	10	118618628	118618628	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:118618628delA	ENST00000341276.5	+	5	671	c.616delA	c.(616-618)aaafs	p.K208fs	ENO4_ENST00000369207.2_5'UTR|ENO4_ENST00000409522.1_Intron	NM_001242699.1	NP_001229628.1	A6NNW6	ENO4_HUMAN	enolase family member 4	208	Pro-rich.				glycolytic process (GO:0006096)	phosphopyruvate hydratase complex (GO:0000015)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			lung(1)	1						acctcctaccaAAAAAAAGGG	0.483																																																	0																																										SO:0001589	frameshift_variant	0				CCDS73206.1	10q25.3	2012-04-19	2009-12-15	2009-12-15	ENSG00000188316	ENSG00000188316			31670	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 134"""	C10orf134			Standard	NM_001242699		Approved	AC023283.3	uc021pzj.1	A6NNW6	OTTHUMG00000019113	ENST00000341276.5:c.616delA	10.37:g.118618628delA	ENSP00000345555:p.Lys208fs		B8ZZN9	Frame_Shift_Del	DEL	pfam_Enolase_C,pfam_Enolase_N	p.K208fs	ENST00000341276.5	37	c.616		10																																																																																			ENO4	-	NULL	ENSG00000188316		0.483	ENO4-201	KNOWN	basic|appris_principal	protein_coding	ENO4	HGNC	protein_coding			0.00	55	0	A	NM_001242699		118618628	+1	tier1		no_errors	ENST00000341276	ensembl	human	known	74_37	frame_shift_del	45.45	36	30	DEL	0.942	-
ENPP3	5169	genome.wustl.edu	37	6	132043497	132043497	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:132043497T>C	ENST00000414305.1	+	19	2026	c.1698T>C	c.(1696-1698)aaT>aaC	p.N566N	ENPP3_ENST00000358229.5_Silent_p.N566N|ENPP3_ENST00000357639.3_Silent_p.N566N			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	566					immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GCTTTGCTAATCCATTGCCCA	0.428																																																	0													191.0	158.0	169.0					6																	132043497		2203	4300	6503	SO:0001819	synonymous_variant	0			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1698T>C	6.37:g.132043497T>C			Q5JTL3	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.N566	ENST00000414305.1	37	c.1698	CCDS5148.1	6																																																																																			ENPP3	-	NULL	ENSG00000154269		0.428	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	-	0.00	112	0	T			132043497	+1	tier1	-	no_errors	ENST00000357639	ensembl	human	known	74_37	silent	8.24	78	7	SNP	0.051	C
RP11-159F24.2	0	genome.wustl.edu	37	5	43348817	43348820	+	RNA	DEL	AAAA	AAAA	-	rs553054916	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:43348817_43348820delAAAA	ENST00000511991.1	+	0	431_432																											CCAAACTCTTAAAAAAAAAAAAAA	0.333																																																	0																																												0																															5.37:g.43348825_43348828delAAAA				RNA	DEL	-	NULL	ENST00000511991.1	37	NULL		5																																																																																			RP11-159F24.2	-	-	ENSG00000188850		0.333	RP11-159F24.2-001	KNOWN	basic	processed_transcript	ENSG00000188850	Clone_based_vega_gene	pseudogene	OTTHUMT00000367972.1		0.00	13	0	AAAA			43348820	+1	tier1		no_errors	ENST00000511991	ensembl	human	known	74_37	rna	46.67	16	14	DEL	0.000:0.001:0.002:0.003	-
AAK1	22848	genome.wustl.edu	37	2	69693391	69693392	+	IGR	INS	-	-	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:69693391_69693392insG	ENST00000409085.4	-	0	11345				AAK1_ENST00000409068.1_Intron|RP11-427H3.3_ENST00000606389.2_lincRNA	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1						endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						CCAGCTTCCCCGGGGGGGGTCT	0.554																																																	0																																										SO:0001628	intergenic_variant	0			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648		2.37:g.69693399_69693399dupG			Q4ZFZ3|Q53RX6|Q9UPV4	RNA	INS	-	NULL	ENST00000409085.4	37	NULL	CCDS1893.2	2																																																																																			RP11-427H3.3	-	-	ENSG00000188971		0.554	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000188971	Clone_based_vega_gene	protein_coding	OTTHUMT00000251847.4		0.00	50	0	-	NM_014911		69693392	-1	tier1		no_errors	ENST00000339092	ensembl	human	known	74_37	rna	28.57	25	10	INS	0.417:0.405	G
DLC1	10395	genome.wustl.edu	37	8	13017741	13017741	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:13017741delT	ENST00000276297.4	-	6	1758				DLC1_ENST00000512044.2_Intron|Y_RNA_ENST00000363760.1_RNA	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein						actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						cagttacagatttttttgttc	0.438																																																	0																																										SO:0001627	intron_variant	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1349-44575A>-	8.37:g.13017741delT			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	RNA	DEL	-	NULL	ENST00000276297.4	37	NULL	CCDS5989.1	8																																																																																			Y_RNA	-	-	ENSG00000200630		0.438	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000200630	RFAM	protein_coding	OTTHUMT00000207632.2		0.00	10	0	T	NM_182643, NM_006094		13017741	+1	tier1		no_errors	ENST00000363760	ensembl	human	novel	74_37	rna	30.00	7	3	DEL	0.567	-
HP1BP3	50809	genome.wustl.edu	37	1	21069616	21069617	+	3'UTR	DEL	TT	TT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:21069616_21069617delTT	ENST00000312239.5	-	0	3474_3475				HP1BP3_ENST00000375003.2_3'UTR|RP5-930J4.4_ENST00000413451.1_RNA	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3						nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TTTCCTTTTCTTTTTTTTTTTA	0.302																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.*1674AA>-	1.37:g.21069624_21069625delTT			A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	RNA	DEL	-	NULL	ENST00000312239.5	37	NULL	CCDS30621.1	1																																																																																			RP5-930J4.4	-	-	ENSG00000203394		0.302	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000203394	Clone_based_vega_gene	protein_coding	OTTHUMT00000007457.2		0.00	20	0	TT	NM_016287		21069617	+1	tier1		no_errors	ENST00000413451	ensembl	human	known	74_37	rna	28.00	18	7	DEL	0.001:0.000	-
SPATC1	375686	genome.wustl.edu	37	8	145104649	145104649	+	IGR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:145104649C>T	ENST00000377470.3	+	0	1954				CTD-3065J16.6_ENST00000561181.1_RNA|CTD-3065J16.6_ENST00000528912.1_RNA|OPLAH_ENST00000534424.1_5'Flank	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1							centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GACGTGGGCACGCTCGGCCTA	0.682																																																	0																																										SO:0001628	intergenic_variant	0			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976		8.37:g.145104649C>T			B4DWW9|Q5U5I8|Q7Z6L7	RNA	SNP	-	NULL	ENST00000377470.3	37	NULL	CCDS6413.2	8																																																																																			CTD-3065J16.6	-	-	ENSG00000204791		0.682	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000204791	Clone_based_vega_gene	protein_coding	OTTHUMT00000346926.1	-	0.00	16	0	C	NM_198572		145104649	+1	tier1	-	no_errors	ENST00000528912	ensembl	human	known	74_37	rna	43.75	9	7	SNP	0.055	T
CFAP99	402160	genome.wustl.edu	37	4	2428672	2428672	+	lincRNA	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:2428672C>T	ENST00000382849.2	+	0	490																											ATCCCCCAGGCGCCCCAGGGC	0.612																																																	0																																												0																															4.37:g.2428672C>T				RNA	SNP	-	NULL	ENST00000382849.2	37	NULL		4																																																																																			RP11-503N18.1	-	-	ENSG00000206113		0.612	RP11-503N18.1-001	KNOWN	basic	lincRNA	ENSG00000206113	Clone_based_vega_gene	lincRNA	OTTHUMT00000360938.2	-	0.00	91	0	C			2428672	+1	tier1	-	no_errors	ENST00000382849	ensembl	human	known	74_37	rna	39.68	38	25	SNP	0.000	T
AC022007.5	0	genome.wustl.edu	37	3	10048499	10048499	+	lincRNA	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:10048499G>T	ENST00000383808.2	-	0	1499				AC034193.5_ENST00000326237.3_RNA																							AGATTGGAGAGGACGAAGGCC	0.532																																																	0																																												0																															3.37:g.10048499G>T				RNA	SNP	-	NULL	ENST00000383808.2	37	NULL		3																																																																																			AC022007.5	-	-	ENSG00000206567		0.532	AC022007.5-001	KNOWN	basic	lincRNA	ENSG00000206567	Clone_based_vega_gene	lincRNA	OTTHUMT00000339469.1	-	0.00	36	0	G			10048499	-1	tier1	-	no_errors	ENST00000383808	ensembl	human	known	74_37	rna	50.00	18	18	SNP	0.011	T
AC006988.1	0	genome.wustl.edu	37	7	88269891	88269893	+	RNA	DEL	TTT	TTT	-	rs200675201		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:88269891_88269893delTTT	ENST00000390184.1	+	0	57_59																											GAAGGAGCACTTTTTTTTTTTTT	0.315																																																	0																																												0																															7.37:g.88269900_88269902delTTT				RNA	DEL	-	NULL	ENST00000390184.1	37	NULL		7																																																																																			AC006988.1	-	-	ENSG00000211518		0.315	AC006988.1-201	NOVEL	basic	miRNA	ENSG00000211518	Clone_based_ensembl_gene	miRNA			0.00	21	0	TTT			88269893	+1	tier1		no_errors	ENST00000390184	ensembl	human	novel	74_37	rna	58.33	10	14	DEL	0.475:0.436:0.392	-
Unknown	0	genome.wustl.edu	37	GL000212.1	65790	65790	+	IGR	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrGL000212.1:65790G>A								None (None upstream) : None (None downstream)																							CGCCGCCCACGGCTTCGCTAA	0.637																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.65790G>A				Silent	SNP	NULL	p.T513		37	c.1539		GL000212.1																																																																																			AL356585.1	-	NULL	ENSG00000212857	0	0.637					ENSG00000212857	Clone_based_ensembl_gene			-	0.00	89	0	G			65790	+1	tier1	-	no_errors	ENST00000391545	ensembl	human	known	74_37	silent	26.88	68	25	SNP	NULL	A
TRIQK	286144	genome.wustl.edu	37	8	93897074	93897075	+	3'UTR	INS	-	-	G	rs531028746		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:93897074_93897075insG	ENST00000521988.1	-	0	2354_2355				AC117834.1_ENST00000391681.1_Frame_Shift_Ins_p.VG11fs|TRIQK_ENST00000537541.1_3'UTR|TRIQK_ENST00000517540.1_5'Flank|CTD-3239E11.2_ENST00000523197.1_RNA|TRIQK_ENST00000518748.1_3'UTR|CTD-3239E11.2_ENST00000521203.1_RNA	NM_001171797.1	NP_001165268.1	Q629K1	TRIQK_HUMAN	triple QxxK/R motif containing							endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(3)	3						gtgatgggagtgggggggtggg	0.401																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK096398, BC110326, BC031029, BC065838	CCDS55261.1	8q22.1	2012-04-18	2012-04-18	2012-04-18	ENSG00000205133	ENSG00000205133			27828	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 83"""	C8orf83		18828657	Standard	NM_001171796		Approved	DKFZp779L1068, PRO0845, LOC286144	uc022aya.1	Q629K1	OTTHUMG00000164162	ENST00000521988.1:c.*1776->C	8.37:g.93897081_93897081dupG				Frame_Shift_Ins	INS	NULL	p.W14fs	ENST00000521988.1	37	c.32_33	CCDS55261.1	8																																																																																			AC117834.1	-	NULL	ENSG00000212999		0.401	TRIQK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000212999	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000377523.3		0.00	21	0	-	NM_001171795		93897075	+1	tier1		no_errors	ENST00000391681	ensembl	human	novel	74_37	frame_shift_ins	25.00	33	11	INS	0.969:0.807	G
AC018804.7	0	genome.wustl.edu	37	2	130989054	130989054	+	RNA	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:130989054C>T	ENST00000450578.1	+	0	127																											aggaggagggcgaggaggaCA	0.647																																																	0																																												0																															2.37:g.130989054C>T				RNA	SNP	-	NULL	ENST00000450578.1	37	NULL		2																																																																																			AC018804.7	-	-	ENSG00000213225		0.647	AC018804.7-002	KNOWN	basic	processed_transcript	ENSG00000213225	Clone_based_vega_gene	pseudogene	OTTHUMT00000332326.2	-	0.00	78	0	C			130989054	+1	tier1	-	no_errors	ENST00000450578	ensembl	human	known	74_37	rna	41.10	43	30	SNP	0.719	T
RP11-1036E20.9	0	genome.wustl.edu	37	11	59038011	59038012	+	lincRNA	DEL	AA	AA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:59038011_59038012delAA	ENST00000399003.1	-	0	1141_1142																											agttgtttacaaaaaaaaaact	0.376																																																	0																																												0																															11.37:g.59038019_59038020delAA				RNA	DEL	-	NULL	ENST00000399003.1	37	NULL		11																																																																																			RP11-1036E20.9	-	-	ENSG00000214797		0.376	RP11-1036E20.9-001	KNOWN	basic	lincRNA	ENSG00000214797	Clone_based_vega_gene	lincRNA	OTTHUMT00000394611.1		0.00	25	0	AA			59038012	-1	tier1		no_errors	ENST00000399003	ensembl	human	known	74_37	rna	64.29	10	18	DEL	0.000:0.000	-
PRKG1	5592	genome.wustl.edu	37	10	53399574	53399574	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:53399574G>A	ENST00000401604.2	+	4	741				AC068062.1_ENST00000401203.1_RNA|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I						actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ctacttttgcgccaacctaaT	0.279																																																	0																																										SO:0001627	intron_variant	0				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.548-164771G>A	10.37:g.53399574G>A			A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	RNA	SNP	-	NULL	ENST00000401604.2	37	NULL	CCDS44399.1	10																																																																																			AC068062.1	-	-	ENSG00000216022		0.279	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216022	Clone_based_ensembl_gene	protein_coding		-	0.00	22	0	G			53399574	-1	tier1	-	no_errors	ENST00000401203	ensembl	human	novel	74_37	rna	53.85	6	7	SNP	0.001	A
AL356479.1	0	genome.wustl.edu	37	1	95970583	95970583	+	RNA	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:95970583delA	ENST00000401218.1	-	0	36																											tttcaatggcaaaaaccacaa	0.383																																																	0																																												0																															1.37:g.95970583delA				RNA	DEL	-	NULL	ENST00000401218.1	37	NULL		1																																																																																			AL356479.1	-	-	ENSG00000216037		0.383	AL356479.1-201	NOVEL	basic	miRNA	ENSG00000216037	Clone_based_ensembl_gene	miRNA			0.00	49	0	A			95970583	-1	tier1		no_errors	ENST00000401218	ensembl	human	novel	74_37	rna	46.55	31	27	DEL	0.009	-
RIMS2	9699	genome.wustl.edu	37	8	104863916	104863916	+	Intron	SNP	C	C	T	rs563491147	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:104863916C>T	ENST00000507740.1	+	1	358				RIMS2_ENST00000522174.1_Intron|AP001572.1_ENST00000401294.1_RNA|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			cacacacacacacacaGGCAA	0.378										HNSCC(12;0.0054)			C|||	10	0.00199681	0.0068	0.0014	5008	,	,		10447	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000507740.1:c.122+32059C>T	8.37:g.104863916C>T			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	RNA	SNP	-	NULL	ENST00000507740.1	37	NULL	CCDS43761.1	8																																																																																			AP001572.1	-	-	ENSG00000216113		0.378	RIMS2-005	NOVEL	basic|CCDS	protein_coding	ENSG00000216113	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000367215.1	-	0.00	22	0	C	NM_001100117		104863916	+1	tier1	-	no_errors	ENST00000401294	ensembl	human	novel	74_37	rna	41.18	10	7	SNP	0.000	T
SNORA11	677799	genome.wustl.edu	37	14	70270922	70270922	+	RNA	DEL	T	T	-	rs566317626		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:70270922delT	ENST00000408133.1	-	0	126									small nucleolar RNA, H/ACA box 11																		ATGGATTCTCTTTTTTTTTTT	0.353																																																	0																																												0			AM055729		Xp11.21	2013-09-05			ENSG00000221716	ENSG00000221716		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32599	non-coding RNA	RNA, small nucleolar	"""small nucleolar RNA, H/ACA box 11A"""	300662				16361266, 16381836	Standard	NR_002953		Approved	U107, SNORA11A	uc021ptl.1				14.37:g.70270922delT				RNA	DEL	-	NULL	ENST00000408133.1	37	NULL		14																																																																																			SNORA11	-	-	ENSG00000221060		0.353	SNORA11.1-201	NOVEL	basic	snoRNA	ENSG00000221060	RFAM	snoRNA			0.00	16	0	T	NR_002953		70270922	-1	tier1		no_errors	ENST00000408133	ensembl	human	novel	74_37	rna	55.00	9	11	DEL	0.003	-
GSX2	170825	genome.wustl.edu	37	4	54969778	54969778	+	IGR	SNP	G	G	A	rs10540512|rs71200364|rs72250994|rs57728719|rs56409202		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:54969778G>A	ENST00000326902.2	+	0	1812				AC110298.1_ENST00000408292.1_RNA|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2						forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GCGCGCGCGCGcacacacaca	0.567																																																	0																																										SO:0001628	intergenic_variant	0				CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696		4.37:g.54969778G>A				RNA	SNP	-	NULL	ENST00000326902.2	37	NULL	CCDS3494.1	4																																																																																			AC110298.1	-	-	ENSG00000221219		0.567	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221219	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000250595.1	-	0.00	67	0	G	NM_133267		54969778	-1	tier1	rs28628203	no_errors	ENST00000408292	ensembl	human	novel	74_37	rna	30.00	35	15	SNP	0.002	A
RP11-43F13.4	0	genome.wustl.edu	37	5	1004312	1004312	+	lincRNA	DEL	T	T	-	rs3083863|rs72705193|rs61651856	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:1004312delT	ENST00000606540.1	+	0	0				AC116351.2_ENST00000408317.1_RNA																							GGGACgtgggtgtgtgtgtgt	0.592																																																	0																																												0																															5.37:g.1004312delT				RNA	DEL	-	NULL	ENST00000606540.1	37	NULL		5																																																																																			AC116351.2	-	-	ENSG00000221244		0.592	RP11-43F13.4-001	KNOWN	basic	lincRNA	ENSG00000221244	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000470457.1		0.00	47	0	T			1004312	+1	tier1		no_errors	ENST00000408317	ensembl	human	novel	74_37	rna	23.73	45	14	DEL	0.050	-
TNFSF15	9966	genome.wustl.edu	37	9	117554475	117554476	+	Intron	DEL	GT	GT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:117554475_117554476delGT	ENST00000374045.4	-	3	415				TNFSF15_ENST00000374044.1_5'Flank|AL390240.1_ENST00000408807.1_RNA	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						taaggaaaacgtgtgtgtgtgt	0.406																																																	0									,	45,73,3300		5,0,35,9,55,1605					,	0.2	0.0			74	37,152,6633		3,0,31,16,120,3241	no	intron,intron	TNFSF15	NM_005118.3,NM_001204344.1	,	8,0,66,25,175,4846	A1A1,A1A2,A1R,A2A2,A2R,RR		2.7704,3.4523,2.998	,	,		82,225,9933				SO:0001627	intron_variant	0			AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"""Tumor necrosis factor (ligand) superfamily"""	11931	protein-coding gene	gene with protein product	"""vascular endothelial cell growth inhibitor"", ""TNF superfamily ligand TL1A"", ""TNF ligand-related molecule 1"", ""vascular endothelial growth inhibitor-192A"""	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.301+210AC>-	9.37:g.117554485_117554486delGT			Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	RNA	DEL	-	NULL	ENST00000374045.4	37	NULL	CCDS6809.1	9																																																																																			AL390240.1	-	-	ENSG00000221734		0.406	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221734	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000055424.2		0.00	15	0	GT	NM_005118		117554476	+1	tier1		no_errors	ENST00000408807	ensembl	human	novel	74_37	rna	30.00	7	3	DEL	0.007:0.006	-
RP11-384J4.2	0	genome.wustl.edu	37	14	27396917	27396919	+	lincRNA	DEL	AAA	AAA	-	rs398024627|rs71125415|rs75230975		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:27396917_27396919delAAA	ENST00000552303.1	+	0	205				AL110292.1_ENST00000410967.1_RNA																							aaagtatggcaaaaaaaaaaaaa	0.3																																																	0																																												0																															14.37:g.27396926_27396928delAAA				RNA	DEL	-	NULL	ENST00000552303.1	37	NULL		14																																																																																			AL110292.1	-	-	ENSG00000222899		0.300	RP11-384J4.2-002	KNOWN	basic	lincRNA	ENSG00000222899	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000409120.1		0.00	122	0	AAA			27396919	+1	tier1		no_errors	ENST00000410967	ensembl	human	novel	74_37	rna	25.00	120	40	DEL	0.000:0.001:0.000	-
LOC101927587	101927587	genome.wustl.edu	37	1	84259638	84259638	+	lincRNA	DEL	A	A	-	rs111685871		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:84259638delA	ENST00000439186.1	+	0	163				AL035706.1_ENST00000411299.1_RNA|RP11-475O6.1_ENST00000417975.1_lincRNA																							taatggcaTTAAAAAAAAAAC	0.318																																																	0																																												0																															1.37:g.84259638delA				RNA	DEL	-	NULL	ENST00000439186.1	37	NULL		1																																																																																			AL035706.1	-	-	ENSG00000223231		0.318	RP5-836J3.1-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000223231	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000027497.1		0.00	11	0	A			84259638	+1	tier1		no_errors	ENST00000411299	ensembl	human	novel	74_37	rna	65.00	7	13	DEL	0.062	-
PHF20L1	51105	genome.wustl.edu	37	8	133854715	133854717	+	Intron	DEL	TTT	TTT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:133854715_133854717delTTT	ENST00000395386.2	+	19	2686				PHF20L1_ENST00000220847.7_Intron|PHF20L1_ENST00000395390.2_Intron|AF230666.2_ENST00000608375.1_RNA|AF230666.2_ENST00000429151.1_RNA	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1								zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGTTAATAGATTTTTTTTTTTTT	0.35																																																	0																																										SO:0001627	intron_variant	0			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2388-43TTT>-	8.37:g.133854724_133854726delTTT			A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	RNA	DEL	-	NULL	ENST00000395386.2	37	NULL	CCDS6367.2	8																																																																																			AF230666.2	-	-	ENSG00000223697		0.350	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ENSG00000223697	Clone_based_vega_gene	protein_coding	OTTHUMT00000308949.3		0.00	16	0	TTT	NM_016018		133854717	-1	tier1		no_errors	ENST00000608375	ensembl	human	known	74_37	rna	60.98	16	25	DEL	0.003:0.002:0.000	-
PXT1	222659	genome.wustl.edu	37	6	36359695	36359698	+	Intron	DEL	TTTA	TTTA	-	rs200946427|rs397897132|rs10578178|rs147244815|rs373183785|rs199820722|rs549283808	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTA	TTTA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:36359695_36359698delTTTA	ENST00000454782.2	-	5	784				RP1-50J22.4_ENST00000411643.1_RNA	NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1						positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|peroxisome (GO:0005777)											TTTTTTTTTTTTTAAAAGTGATAG	0.304														20	0.00399361	0.0061	0.0014	5008	,	,		18223	0.004		0.002	False		,,,				2504	0.0051																0										2529,1715		604,1321,197							0.0		dbSNP_119	25	5150,3092		1268,2614,239	no	intron	PXT1	NM_152990.3		1872,3935,436	A1A1,A1R,RR		37.5152,40.41,38.4991				7679,4807				SO:0001627	intron_variant	0			AF486827	CCDS4820.2	6p21.31	2004-04-30			ENSG00000179165	ENSG00000179165			18312	protein-coding gene	gene with protein product							Standard	NM_152990		Approved	STEPP	uc003omd.2	Q8NFP0	OTTHUMG00000159815	ENST00000454782.2:c.301-44TAAA>-	6.37:g.36359695_36359698delTTTA			J3KR74	RNA	DEL	-	NULL	ENST00000454782.2	37	NULL	CCDS4820.2	6																																																																																			RP1-50J22.4	-	-	ENSG00000224666		0.304	PXT1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ENSG00000224666	Clone_based_vega_gene	protein_coding	OTTHUMT00000357516.2		0.00	20	0	TTTA	NM_152990		36359698	+1	tier1		no_errors	ENST00000411643	ensembl	human	known	74_37	rna	50.00	7	7	DEL	0.000:0.001:0.002:0.005	-
RP11-640M9.2	0	genome.wustl.edu	37	1	144598579	144598579	+	RNA	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:144598579C>T	ENST00000419820.1	+	0	507																											CTCACCTTACCGTCCCTTACC	0.532																																																	0																																												0																															1.37:g.144598579C>T				RNA	SNP	-	NULL	ENST00000419820.1	37	NULL		1																																																																																			RP11-640M9.2	-	-	ENSG00000225241		0.532	RP11-640M9.2-011	KNOWN	basic	processed_transcript	ENSG00000225241	Clone_based_vega_gene	pseudogene	OTTHUMT00000038365.1	-	0.00	57	0	C			144598579	+1	tier1	-	no_errors	ENST00000419820	ensembl	human	known	74_37	rna	11.86	52	7	SNP	0.000	T
EXOSC10	5394	genome.wustl.edu	37	1	11132251	11132251	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:11132251delA	ENST00000376936.4	-	20	2207				RP4-635E18.7_ENST00000452378.1_RNA|EXOSC10_ENST00000304457.7_Intron|EXOSC10_ENST00000544779.1_Intron	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10						CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CAAATATAACAAAAAAAACCC	0.413																																					Colon(179;105 1987 14326 27364 29542)												0													101.0	97.0	98.0					1																	11132251		2203	4300	6503	SO:0001627	intron_variant	0			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.2158-23T>-	1.37:g.11132251delA			B1AKQ0|B1AKQ1|Q15158	RNA	DEL	-	NULL	ENST00000376936.4	37	NULL	CCDS30584.1	1																																																																																			RP4-635E18.7	-	-	ENSG00000226849		0.413	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000226849	Clone_based_vega_gene	protein_coding	OTTHUMT00000006078.1		0.00	38	0	A	NM_001001998		11132251	+1	tier1		no_errors	ENST00000452378	ensembl	human	known	74_37	rna	48.39	16	15	DEL	0.000	-
SEPN1	57190	genome.wustl.edu	37	1	26143253	26143253	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:26143253delT	ENST00000374315.1	+	0	2753				RP1-317E23.3_ENST00000442055.1_RNA|RP1-317E23.6_ENST00000527604.1_Intron|SEPN1_ENST00000354177.4_3'UTR|SEPN1_ENST00000361547.2_3'UTR	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1							endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TTTGTAGGTATTTTTTTATAA	0.498																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.*1044T>-	1.37:g.26143253delT			A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	RNA	DEL	-	NULL	ENST00000374315.1	37	NULL	CCDS41283.1	1																																																																																			RP1-317E23.3	-	-	ENSG00000228172		0.498	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	ENSG00000228172	Clone_based_vega_gene	protein_coding	OTTHUMT00000019315.2		0.00	52	0	T	NM_020451		26143253	-1	tier1		no_errors	ENST00000442055	ensembl	human	known	74_37	rna	27.78	39	15	DEL	1.000	-
MARK1	4139	genome.wustl.edu	37	1	220836379	220836379	+	3'UTR	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:220836379G>T	ENST00000366918.4	+	0	3745				RP11-322F10.2_ENST00000446040.1_RNA|MARK1_ENST00000402574.1_3'UTR					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTAATTGCGGGAATATAATAA	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366918.4:c.*871G>T	1.37:g.220836379G>T				RNA	SNP	-	NULL	ENST00000366918.4	37	NULL		1																																																																																			RP11-322F10.2	-	-	ENSG00000225782		0.338	MARK1-001	KNOWN	basic	protein_coding	ENSG00000225782	Clone_based_vega_gene	protein_coding	OTTHUMT00000090898.2	-	0.00	55	0	G			220836379	-1	tier1	-	no_errors	ENST00000446040	ensembl	human	known	74_37	rna	8.22	67	6	SNP	0.000	T
RP13-60M5.2	0	genome.wustl.edu	37	9	91262294	91262294	+	lincRNA	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:91262294C>T	ENST00000418343.2	-	0	457																											TTCACTGGTGCCGTCATCATT	0.458																																																	0													41.0	41.0	41.0					9																	91262294		1915	4134	6049			0																															9.37:g.91262294C>T				RNA	SNP	-	NULL	ENST00000418343.2	37	NULL		9																																																																																			RP13-60M5.2	-	-	ENSG00000228189		0.458	RP13-60M5.2-001	KNOWN	basic	lincRNA	ENSG00000228189	Clone_based_vega_gene	lincRNA	OTTHUMT00000052976.2	-	0.00	89	0	C			91262294	-1	tier1	-	no_errors	ENST00000418343	ensembl	human	known	74_37	rna	48.65	38	36	SNP	0.000	T
GJA9	81025	genome.wustl.edu	37	1	39341838	39341838	+	5'UTR	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:39341838G>T	ENST00000360786.3	-	0	185				RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000454994.2_5'UTR|GJA9_ENST00000357771.3_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa						cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CTTCCATTCTGAAGGGAGCAC	0.393																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.-68C>A	1.37:g.39341838G>T			B2R722|B3KVQ2|Q5TA63|Q96KG0	RNA	SNP	-	NULL	ENST00000360786.3	37	NULL	CCDS432.1	1																																																																																			RP5-864K19.4	-	-	ENSG00000228436		0.393	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228436	Clone_based_vega_gene	protein_coding	OTTHUMT00000001205.1	-	0.00	70	0	G	NM_030772		39341838	+1	tier1	-	no_errors	ENST00000443161	ensembl	human	known	74_37	rna	10.00	45	5	SNP	0.277	T
LOC100631378	100631378	genome.wustl.edu	37	19	38321455	38321455	+	lincRNA	SNP	C	C	T	rs534664592		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:38321455C>T	ENST00000443870.1	+	0	1265				AC016582.2_ENST00000592640.1_lincRNA																							ACAAGGAGAGCGTGTTGCATC	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		21795	0.0		0.001	False		,,,				2504	0.0																0																																												0																															19.37:g.38321455C>T				RNA	SNP	-	NULL	ENST00000443870.1	37	NULL		19																																																																																			CTD-2554C21.3	-	-	ENSG00000229481		0.488	CTD-2554C21.3-001	KNOWN	basic	lincRNA	ENSG00000229481	Clone_based_vega_gene	lincRNA	OTTHUMT00000459795.1	-	0.00	45	0	C			38321455	+1	tier1	-	no_errors	ENST00000443870	ensembl	human	known	74_37	rna	46.81	25	22	SNP	0.007	T
RP11-141M1.3	0	genome.wustl.edu	37	13	34098474	34098475	+	lincRNA	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:34098474_34098475insT	ENST00000454681.2	-	0	125_126																											TCTTCTGATGATTTTTCTTAGG	0.322																																																	0																																												0																															13.37:g.34098479_34098479dupT				RNA	INS	-	NULL	ENST00000454681.2	37	NULL		13																																																																																			RP11-141M1.3	-	-	ENSG00000230490		0.322	RP11-141M1.3-001	KNOWN	basic	lincRNA	ENSG00000230490	Clone_based_vega_gene	lincRNA	OTTHUMT00000044447.2		0.00	25	0	-			34098475	-1	tier1		no_errors	ENST00000454681	ensembl	human	known	74_37	rna	32.14	19	9	INS	0.004:0.002	T
KRT8P47	644743	genome.wustl.edu	37	1	44569721	44569721	+	lincRNA	SNP	G	G	A	rs548381823		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:44569721G>A	ENST00000434244.1	+	0	1718																											CACCACAGACGTGGCGGAGAT	0.607																																																	0																																												0																															1.37:g.44569721G>A				RNA	SNP	-	NULL	ENST00000434244.1	37	NULL		1																																																																																			RP5-1198O20.4	-	-	ENSG00000230615		0.607	RP5-1198O20.4-001	KNOWN	basic	lincRNA	ENSG00000230615	Clone_based_vega_gene	lincRNA	OTTHUMT00000022875.2	-	0.00	36	0	G			44569721	+1	tier1	-	no_errors	ENST00000434244	ensembl	human	known	74_37	rna	51.11	22	23	SNP	0.993	A
BEND3P1	644459	genome.wustl.edu	37	10	52419262	52419262	+	RNA	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:52419262C>T	ENST00000449695.1	+	0	1996																											ACGCGGGCAGCGAAGGCAAGC	0.642																																																	0																																												0																															10.37:g.52419262C>T				RNA	SNP	-	NULL	ENST00000449695.1	37	NULL		10																																																																																			RP11-564C4.6	-	-	ENSG00000231345		0.642	RP11-564C4.6-002	KNOWN	basic	processed_transcript	ENSG00000231345	Clone_based_vega_gene	pseudogene	OTTHUMT00000048079.1	-	0.00	25	0	C			52419262	+1	tier1	-	no_errors	ENST00000449695	ensembl	human	known	74_37	rna	40.00	12	8	SNP	0.951	T
PTPN1	5770	genome.wustl.edu	37	20	49191303	49191303	+	Intron	SNP	C	C	T	rs541938865		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:49191303C>T	ENST00000371621.3	+	5	666				PTPN1_ENST00000541713.1_Intron|RP4-530I15.9_ENST00000431019.1_RNA	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1						actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	TTGTATACCCCGAGCAAGATG	0.517													c|||	1	0.000199681	0.0	0.0	5008	,	,		19801	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0				CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.492+112C>T	20.37:g.49191303C>T			Q5TGD8|Q9BQV9|Q9NQQ4	RNA	SNP	-	NULL	ENST00000371621.3	37	NULL	CCDS13430.1	20																																																																																			RP4-530I15.9	-	-	ENSG00000232043		0.517	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232043	Clone_based_vega_gene	protein_coding	OTTHUMT00000079694.2	-	0.00	15	0	C			49191303	-1	tier1	-	no_errors	ENST00000431019	ensembl	human	known	74_37	rna	45.83	13	11	SNP	0.001	T
MYADM	91663	genome.wustl.edu	37	19	54378026	54378029	+	3'UTR	DEL	TTTT	TTTT	-	rs67727940|rs307934	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:54378026_54378029delTTTT	ENST00000391769.2	+	0	1523_1526				AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391771.1_3'UTR|MYADM_ENST00000336967.3_3'UTR|MYADM_ENST00000391770.4_3'UTR	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker						establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		ttttcttttctttttttttttttt	0.461																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.*277TTTT>-	19.37:g.54378034_54378037delTTTT			B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	RNA	DEL	-	NULL	ENST00000391769.2	37	NULL	CCDS12866.1	19																																																																																			AC008440.5	-	-	ENSG00000232220		0.461	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232220	Clone_based_vega_gene	protein_coding	OTTHUMT00000134337.1		0.00	98	0	TTTT	NM_138373		54378029	-1	tier1		no_errors	ENST00000413496	ensembl	human	known	74_37	rna	14.46	71	12	DEL	0.000:0.000:0.000:0.000	-
MYADM	91663	genome.wustl.edu	37	19	54378033	54378033	+	3'UTR	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:54378033T>C	ENST00000391769.2	+	0	1530				AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391771.1_3'UTR|MYADM_ENST00000336967.3_3'UTR|MYADM_ENST00000391770.4_3'UTR	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker						establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		ttctttttttttttttttttt	0.468																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.*281T>C	19.37:g.54378033T>C			B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	RNA	SNP	-	NULL	ENST00000391769.2	37	NULL	CCDS12866.1	19																																																																																			AC008440.5	-	-	ENSG00000232220		0.468	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232220	Clone_based_vega_gene	protein_coding	OTTHUMT00000134337.1	-	0.00	87	0	T	NM_138373		54378033	-1	tier1	rs1143256	no_errors	ENST00000413496	ensembl	human	known	74_37	rna	18.52	66	15	SNP	0.000	C
MYADM	91663	genome.wustl.edu	37	19	54379104	54379105	+	3'UTR	DEL	AA	AA	-	rs75209913|rs369211393		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:54379104_54379105delAA	ENST00000391769.2	+	0	2601_2602				AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391771.1_3'UTR|MYADM_ENST00000336967.3_3'UTR|MYADM_ENST00000391770.4_3'UTR	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker						establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		actccatctcaaaaaaaaaaag	0.5																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.*1353AA>-	19.37:g.54379112_54379113delAA			B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	RNA	DEL	-	NULL	ENST00000391769.2	37	NULL	CCDS12866.1	19																																																																																			AC008440.5	-	-	ENSG00000232220		0.500	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232220	Clone_based_vega_gene	protein_coding	OTTHUMT00000134337.1		0.00	16	0	AA	NM_138373		54379105	-1	tier1		no_errors	ENST00000413496	ensembl	human	known	74_37	rna	33.33	8	4	DEL	0.000:0.000	-
CLSPN	63967	genome.wustl.edu	37	1	36208989	36208989	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:36208989delA	ENST00000318121.3	-	17	3100				RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000520551.1_Intron|CLSPN_ENST00000373220.3_Intron|CLSPN_ENST00000251195.5_Intron	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin						activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AACTGAGGGGAAAAAAACACT	0.353																																																	0																																										SO:0001627	intron_variant	0			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3042+66T>-	1.37:g.36208989delA			A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	RNA	DEL	-	NULL	ENST00000318121.3	37	NULL	CCDS396.1	1																																																																																			RP11-435D7.3	-	-	ENSG00000232335		0.353	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232335	Clone_based_vega_gene	protein_coding	OTTHUMT00000377857.1		0.00	63	0	A	NM_022111		36208989	+1	tier1		no_errors	ENST00000373226	ensembl	human	known	74_37	rna	29.09	39	16	DEL	0.001	-
RP11-63K6.7	0	genome.wustl.edu	37	6	90630851	90630851	+	RNA	SNP	T	T	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:90630851T>G	ENST00000458201.1	+	0	128																											CAGAACATGCTTCTAGAACTT	0.423																																																	0																																												0																															6.37:g.90630851T>G				RNA	SNP	-	NULL	ENST00000458201.1	37	NULL		6																																																																																			RP11-63K6.7	-	-	ENSG00000232532		0.423	RP11-63K6.7-001	KNOWN	basic	antisense	ENSG00000232532	Clone_based_vega_gene	antisense	OTTHUMT00000041506.1	-	0.00	49	0	T			90630851	+1	tier1	-	no_errors	ENST00000458201	ensembl	human	known	74_37	rna	33.33	36	18	SNP	1.000	G
FRG2FP	100128827	genome.wustl.edu	37	3	197838274	197838276	+	RNA	DEL	AAA	AAA	-	rs398052594|rs71623397	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:197838274_197838276delAAA	ENST00000419104.1	+	0	396_398																											GCTTGATGTTAAAAAAAAAAAAA	0.483																																																	0																																												0																															3.37:g.197838283_197838285delAAA				RNA	DEL	-	NULL	ENST00000419104.1	37	NULL		3																																																																																			AC073135.3	-	-	ENSG00000232783		0.483	AC073135.3-003	KNOWN	basic	processed_transcript	ENSG00000232783	Clone_based_vega_gene	pseudogene	OTTHUMT00000339698.1		0.00	16	0	AAA			197838276	+1	tier1		no_errors	ENST00000411596	ensembl	human	known	74_37	rna	15.62	27	5	DEL	0.001:0.001:0.001	-
FCGR1A	2209	genome.wustl.edu	37	1	149764212	149764213	+	IGR	INS	-	-	G	rs587603635	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:149764212_149764213insG	ENST00000369168.4	+	0	2180				RP11-196G18.3_ENST00000428289.1_RNA|RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)						antibody-dependent cellular cytotoxicity (GO:0001788)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CGCCTGTATCTGGGGGCCGCAG	0.703																																																	0																																										SO:0001628	intergenic_variant	0			BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089		1.37:g.149764217_149764217dupG			P12315|Q5QNW7|Q92495|Q92663	RNA	INS	-	NULL	ENST00000369168.4	37	NULL	CCDS933.1	1																																																																																			RP11-196G18.3	-	-	ENSG00000233030		0.703	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000233030	Clone_based_vega_gene	protein_coding	OTTHUMT00000033446.1		0.00	8	0	-	NM_000566		149764213	-1	tier1		no_errors	ENST00000428289	ensembl	human	known	74_37	rna	29.41	12	5	INS	0.000:0.001	G
TRAPPC3L	100128327	genome.wustl.edu	37	6	116818039	116818039	+	3'UTR	SNP	T	T	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:116818039T>A	ENST00000368602.3	-	0	719				TRAPPC3L_ENST00000356128.4_3'UTR|RP11-259P20.1_ENST00000420595.2_RNA	NM_001139444.2	NP_001132916.1	Q5T215	TPC3L_HUMAN	trafficking protein particle complex 3-like						vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)											TATGAAGCAATTCAAAATTTC	0.348																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK002042	CCDS47468.1	6q22.31	2013-05-01	2013-05-01	2013-05-01	ENSG00000173626	ENSG00000173626			21090	protein-coding gene	gene with protein product		614137	"""BET3 like (S. cerevisiae)"""	BET3L		21525244	Standard	NM_001139444		Approved	bA259P20.2, FLJ11180		Q5T215	OTTHUMG00000015440	ENST00000368602.3:c.*78A>T	6.37:g.116818039T>A			Q5T213|Q5T214	RNA	SNP	-	NULL	ENST00000368602.3	37	NULL	CCDS47468.1	6																																																																																			RP11-259P20.1	-	-	ENSG00000234117		0.348	TRAPPC3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000234117	Clone_based_vega_gene	protein_coding	OTTHUMT00000101701.1	-	0.00	42	0	T	XM_166322		116818039	+1	tier1	-	no_errors	ENST00000420595	ensembl	human	known	74_37	rna	36.36	28	16	SNP	0.000	A
CTD-2090I13.1	0	genome.wustl.edu	37	1	227618299	227618299	+	lincRNA	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:227618299delA	ENST00000445817.1	+	0	1534																											TGGGCGGTGGAAAAAAAGCCT	0.527																																																	0																																												0																															1.37:g.227618299delA				RNA	DEL	-	NULL	ENST00000445817.1	37	NULL		1																																																																																			CTD-2090I13.1	-	-	ENSG00000234277		0.527	CTD-2090I13.1-001	KNOWN	basic	lincRNA	ENSG00000234277	Clone_based_vega_gene	lincRNA	OTTHUMT00000091688.1		0.00	35	0	A			227618299	+1	tier1		no_errors	ENST00000445817	ensembl	human	known	74_37	rna	29.63	38	16	DEL	1.000	-
VNN2	8875	genome.wustl.edu	37	6	133073948	133073948	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:133073948delA	ENST00000326499.6	-	4	662				VNN2_ENST00000525270.1_Intron|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000526192.1_5'Flank|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2						cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		AATGACTCATAAAAACCCTCT	0.383																																																	0																																										SO:0001627	intron_variant	0			AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.538-60T>-	6.37:g.133073948delA			A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	RNA	DEL	-	NULL	ENST00000326499.6	37	NULL	CCDS5161.1	6																																																																																			RP1-55C23.7	-	-	ENSG00000234484		0.383	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000234484	Clone_based_vega_gene	protein_coding	OTTHUMT00000042264.2		0.00	10	0	A			133073948	+1	tier1		no_errors	ENST00000430895	ensembl	human	known	74_37	rna	21.43	11	3	DEL	0.029	-
LHX2	9355	genome.wustl.edu	37	9	126794643	126794643	+	Intron	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:126794643delG	ENST00000373615.4	+	5	1672				RP11-85O21.5_ENST00000429482.1_RNA	NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2						axon extension (GO:0048675)|axon guidance (GO:0007411)|cerebral cortex development (GO:0021987)|dorsal/ventral pattern formation (GO:0009953)|mesoderm development (GO:0007498)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural tube closure (GO:0001843)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|retina development in camera-type eye (GO:0060041)|telencephalon regionalization (GO:0021978)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						TGAAGCAGTCGGGGGGATGCT	0.562																																																	0																																										SO:0001627	intron_variant	0			U11701	CCDS6853.1	9q33.3	2011-06-20			ENSG00000106689	ENSG00000106689		"""Homeoboxes / LIM class"""	6594	protein-coding gene	gene with protein product		603759				8649822, 10051612	Standard	NM_004789		Approved	LH-2, hLhx2	uc004boe.1	P50458	OTTHUMG00000020647	ENST00000373615.4:c.934-56G>-	9.37:g.126794643delG			O95860|Q52M57|Q8N1Z3	RNA	DEL	-	NULL	ENST00000373615.4	37	NULL	CCDS6853.1	9																																																																																			RP11-85O21.5	-	-	ENSG00000234921		0.562	LHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000234921	Clone_based_vega_gene	protein_coding	OTTHUMT00000054010.2		0.00	17	0	G			126794643	-1	tier1		no_errors	ENST00000429482	ensembl	human	known	74_37	rna	31.58	13	6	DEL	0.000	-
GCSAML	148823	genome.wustl.edu	37	1	247729207	247729209	+	Intron	DEL	TTT	TTT	-	rs538995820|rs571531888|rs367904043	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:247729207_247729209delTTT	ENST00000366488.4	+	4	243				GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000536561.1_Intron|GCSAML_ENST00000463359.1_Intron|RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like																		CCTTTCTTTCTTTTTTTTTTTTT	0.33														6	0.00119808	0.0023	0.0	5008	,	,		18277	0.0		0.0	False		,,,				2504	0.0031																0																																										SO:0001627	intron_variant	0			AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.140-24TTT>-	1.37:g.247729216_247729218delTTT			B2R4Y5|B3KX46|Q5JQT3	RNA	DEL	-	NULL	ENST00000366488.4	37	NULL	CCDS1635.1	1																																																																																			RP11-978I15.10	-	-	ENSG00000236817		0.330	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000236817	Clone_based_vega_gene	protein_coding	OTTHUMT00000097745.4		0.00	31	0	TTT	NM_145278		247729209	-1	tier1		no_errors	ENST00000435333	ensembl	human	known	74_37	rna	13.43	58	9	DEL	0.000:0.000:0.001	-
NUP214	8021	genome.wustl.edu	37	9	134008392	134008392	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:134008392delT	ENST00000359428.5	+	7	871				RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000411637.2_Intron|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Intron|RP11-544A12.4_ENST00000587264.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GGGCCTTTGATTTTTTTTTTA	0.353			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)			Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0																																										SO:0001627	intron_variant	0			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.728-101T>-	9.37:g.134008392delT			A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	RNA	DEL	-	NULL	ENST00000359428.5	37	NULL	CCDS6940.1	9																																																																																			RP11-544A12.4	-	-	ENSG00000236986		0.353	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000236986	Clone_based_vega_gene	protein_coding	OTTHUMT00000054694.2		0.00	16	0	T	NM_005085		134008392	-1	tier1		no_errors	ENST00000587264	ensembl	human	known	74_37	rna	42.86	12	9	DEL	0.002	-
PLSCR2	57047	genome.wustl.edu	37	3	146119248	146119248	+	RNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:146119248G>A	ENST00000490344.1	-	0	241																											CCACAAAGGTGTCGAAGGAAG	0.338																																																	0																																												0																															3.37:g.146119248G>A				RNA	SNP	-	NULL	ENST00000490344.1	37	NULL		3																																																																																			RP11-758I14.3	-	-	ENSG00000241358		0.338	RP11-758I14.3-002	KNOWN	basic	processed_transcript	ENSG00000241358	Clone_based_vega_gene	pseudogene	OTTHUMT00000355269.1	-	0.00	68	0	G			146119248	-1	tier1	-	no_errors	ENST00000490344	ensembl	human	known	74_37	rna	48.15	28	26	SNP	0.000	A
PRKAG2	51422	genome.wustl.edu	37	7	151504031	151504031	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:151504031delA	ENST00000287878.4	-	2	619				PRKAG2_ENST00000392801.2_Intron|RP13-452N2.1_ENST00000462083.2_RNA	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit						ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	cagcctgggGAAAAAAAAAAG	0.498																																																	0																																										SO:0001627	intron_variant	0			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.115-20404T>-	7.37:g.151504031delA			Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	RNA	DEL	-	NULL	ENST00000287878.4	37	NULL	CCDS5928.1	7																																																																																			RP13-452N2.1	-	-	ENSG00000242048		0.498	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000242048	Clone_based_vega_gene	protein_coding	OTTHUMT00000348440.2		0.00	25	0	A	NM_016203		151504031	+1	tier1		no_errors	ENST00000462083	ensembl	human	known	74_37	rna	23.81	16	5	DEL	0.004	-
AGAP5	729092	genome.wustl.edu	37	10	75434061	75434061	+	3'UTR	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:75434061C>A	ENST00000374094.4	-	0	2397				RP11-464F9.21_ENST00000607450.1_RNA|AGAP5_ENST00000443782.2_3'UTR|RP11-464F9.1_ENST00000399449.3_RNA	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						TATTTATGAACTTTTTTTTCA	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23467	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 2"""	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.*296G>T	10.37:g.75434061C>A			A8MSN5	RNA	SNP	-	NULL	ENST00000374094.4	37	NULL	CCDS44439.1	10																																																																																			RP11-464F9.1	-	-	ENSG00000242288		0.343	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000242288	Clone_based_vega_gene	protein_coding		-	0.00	44	0	C	XM_001132585		75434061	-1	tier1	-	no_errors	ENST00000399449	ensembl	human	known	74_37	rna	11.54	69	9	SNP	0.996	A
TPTE2P6	374491	genome.wustl.edu	37	13	25157681	25157681	+	RNA	SNP	G	G	C	rs563676800		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:25157681G>C	ENST00000453498.1	+	0	515				TPTE2P6_ENST00000440905.1_RNA																							CAGATAAAACGCACAGCAGTA	0.393													c|||	1	0.000199681	0.0	0.0	5008	,	,		19228	0.001		0.0	False		,,,				2504	0.0																0																																												0																															13.37:g.25157681G>C				RNA	SNP	-	NULL	ENST00000453498.1	37	NULL		13																																																																																			RP11-556N21.1	-	-	ENSG00000243008		0.393	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000243008	Clone_based_vega_gene	processed_transcript	OTTHUMT00000044193.1	-	0.00	143	0	G			25157681	+1	tier1	-	no_errors	ENST00000453498	ensembl	human	known	74_37	rna	6.49	173	12	SNP	0.881	C
RAB1B	81876	genome.wustl.edu	37	11	66039143	66039143	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:66039143delA	ENST00000311481.6	+	2	161				RAB1B_ENST00000527397.1_Intron|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family						ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						ccttattgctaaaaaaaaaat	0.498																																																	0																																										SO:0001627	intron_variant	0			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.15-125A>-	11.37:g.66039143delA			A8K7S1	RNA	DEL	-	NULL	ENST00000311481.6	37	NULL	CCDS31613.1	11																																																																																			RP11-867G23.3	-	-	ENSG00000245156		0.498	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000245156	Clone_based_vega_gene	protein_coding	OTTHUMT00000391886.2		0.00	22	0	A	NM_030981		66039143	-1	tier1		no_errors	ENST00000501708	ensembl	human	known	74_37	rna	75.61	10	31	DEL	0.020	-
SORL1	6653	genome.wustl.edu	37	11	121323408	121323408	+	Intron	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:121323408C>A	ENST00000260197.7	+	1	414				SORL1_ENST00000532451.1_Intron|RP11-730K11.1_ENST00000501964.1_RNA|RP11-730K11.1_ENST00000529160.1_RNA	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing						cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GTTGCAGTCGCCTCCTAGGTG	0.537																																																	0																																										SO:0001627	intron_variant	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.285+83C>A	11.37:g.121323408C>A			B2RNX7|Q92856	RNA	SNP	-	NULL	ENST00000260197.7	37	NULL	CCDS8436.1	11																																																																																			RP11-730K11.1	-	-	ENSG00000246790		0.537	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000246790	Clone_based_vega_gene	protein_coding	OTTHUMT00000387626.2	-	0.00	54	0	C	NM_003105		121323408	-1	tier1	-	no_errors	ENST00000501964	ensembl	human	known	74_37	rna	46.15	21	18	SNP	0.083	A
TMED2	10959	genome.wustl.edu	37	12	124069475	124069475	+	Intron	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:124069475C>A	ENST00000262225.3	+	1	286				RP11-486O12.2_ENST00000498967.2_lincRNA|TMED2_ENST00000509052.2_5'Flank	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2						cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)				kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		AGTCGCTGTCCGAGTCCTGGA	0.726																																																	0																																										SO:0001627	intron_variant	0			X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.180+112C>A	12.37:g.124069475C>A				RNA	SNP	-	NULL	ENST00000262225.3	37	NULL	CCDS9250.1	12																																																																																			RP11-486O12.2	-	-	ENSG00000247373		0.726	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000247373	Clone_based_vega_gene	protein_coding	OTTHUMT00000400606.1	-	0.00	23	0	C	NM_006815		124069475	-1	tier1	-	no_errors	ENST00000498967	ensembl	human	known	74_37	rna	43.48	13	10	SNP	0.603	A
NDUFS7	374291	genome.wustl.edu	37	19	1395345	1395345	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:1395345C>T	ENST00000233627.9	+	8	840				AC005329.7_ENST00000501448.1_RNA|AC005329.7_ENST00000585596.1_RNA|NDUFS7_ENST00000540530.1_3'UTR|AC005329.7_ENST00000589734.1_RNA|NDUFS7_ENST00000313408.7_3'UTR	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|synaptic membrane (GO:0097060)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|quinone binding (GO:0048038)			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Doxorubicin(DB00997)	CGCGGTCACGCGGGCTCCGGC	0.701																																																	0													13.0	14.0	14.0					19																	1395345		2168	4256	6424	SO:0001627	intron_variant	0			AF115969	CCDS12063.1	19p13	2011-07-04	2002-08-29		ENSG00000115286	ENSG00000115286		"""Mitochondrial respiratory chain complex / Complex I"""	7714	protein-coding gene	gene with protein product	"""complex I 20kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"""	601825	"""NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)"""			8938450	Standard	NM_024407		Approved	PSST, FLJ46880, FLJ45860, CI-20	uc002lse.4	O75251	OTTHUMG00000168077	ENST00000233627.9:c.545-45C>T	19.37:g.1395345C>T			B3KRI2|Q2T9H7|Q9BV17	RNA	SNP	-	NULL	ENST00000233627.9	37	NULL	CCDS12063.1	19																																																																																			AC005329.7	-	-	ENSG00000248015		0.701	NDUFS7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248015	Clone_based_vega_gene	protein_coding	OTTHUMT00000397984.1	-	0.00	11	0	C	NM_024407		1395345	-1	tier1	-	no_errors	ENST00000501448	ensembl	human	known	74_37	rna	57.14	6	8	SNP	0.000	T
FSTL4	23105	genome.wustl.edu	37	5	132559937	132559937	+	Intron	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:132559937G>T	ENST00000265342.7	-	11	1562				CTB-49A3.2_ENST00000509051.1_RNA|FSTL4_ENST00000507112.1_Intron|CTB-49A3.2_ENST00000502776.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4							extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGAAAGCAGGAGTGTGATGG	0.458																																																	0													139.0	115.0	123.0					5																	132559937		2203	4299	6502	SO:0001627	intron_variant	0			AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1313-29C>A	5.37:g.132559937G>T			Q8TBU0|Q9UPU1	RNA	SNP	-	NULL	ENST00000265342.7	37	NULL	CCDS34238.1	5																																																																																			CTB-49A3.2	-	-	ENSG00000248245		0.458	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248245	Clone_based_vega_gene	protein_coding	OTTHUMT00000370212.1	-	0.00	72	0	G	XM_048786		132559937	+1	tier1	-	no_errors	ENST00000502776	ensembl	human	known	74_37	rna	6.78	55	4	SNP	0.016	T
RGS12	6002	genome.wustl.edu	37	4	3314643	3314644	+	5'Flank	INS	-	-	A	rs76913216		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:3314643_3314644insA	ENST00000344733.5	+	0	0				RGS12_ENST00000543385.1_Intron|RP11-357G3.2_ENST00000600073.1_RNA|RGS12_ENST00000336727.3_5'Flank	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12						positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGTTTTCTCCAAAAAAAAAAA	0.436																																																	0																																										SO:0001631	upstream_gene_variant	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277		4.37:g.3314654_3314654dupA	Exception_encountered		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	RNA	INS	-	NULL	ENST00000344733.5	37	NULL	CCDS3366.1	4																																																																																			RP11-357G3.2	-	-	ENSG00000248840		0.436	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000248840	Clone_based_vega_gene	protein_coding	OTTHUMT00000206602.1		0.00	19	0	-	NM_002926		3314644	+1	tier1		no_errors	ENST00000600073	ensembl	human	known	74_37	rna	31.58	13	6	INS	0.003:0.004	A
CFAP99	402160	genome.wustl.edu	37	4	2453979	2453979	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:2453979G>A	ENST00000506607.1	+	4	305	c.302G>A	c.(301-303)cGg>cAg	p.R101Q																								GAGTGCCGGCGGTTGCAAGGG	0.622																																																	0																																										SO:0001583	missense	0																														ENST00000506607.1:c.302G>A	4.37:g.2453979G>A	ENSP00000425050:p.Arg101Gln			Missense_Mutation	SNP	NULL	p.R101Q	ENST00000506607.1	37	c.302		4	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198715	0.79015	.	.	ENSG00000249428	ENST00000506607	.	.	.	4.76	3.89	0.44902	.	.	.	.	.	T	0.50137	0.1598	L	0.32530	0.975	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	11.446	0.50123	0.0901:0.0:0.9099:0.0	.	.	.	.	Q	101	.	ENSP00000425050:R101Q	R	+	2	0	RP11-503N18.3	2423777	1.000000	0.71417	0.993000	0.49108	0.793000	0.44817	4.765000	0.62271	2.360000	0.80028	0.555000	0.69702	CGG	RP11-503N18.3	-	NULL	ENSG00000249428		0.622	RP11-503N18.3-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	ENSG00000249428	Clone_based_vega_gene	protein_coding	OTTHUMT00000360915.3	-	0.00	60	0	G			2453979	+1	tier1	-	no_errors	ENST00000506607	ensembl	human	putative	74_37	missense	50.00	30	30	SNP	0.999	A
SNCA	6622	genome.wustl.edu	37	4	90647546	90647546	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:90647546delA	ENST00000394986.1	-	0	1077				SNCA_ENST00000345009.4_3'UTR|SNCA_ENST00000336904.3_3'UTR|RP11-115D19.1_ENST00000508021.1_RNA|SNCA_ENST00000394991.3_3'UTR|SNCA_ENST00000508895.1_3'UTR|SNCA_ENST00000394989.2_3'UTR|SNCA_ENST00000420646.2_3'UTR			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adult locomotory behavior (GO:0008344)|aging (GO:0007568)|behavioral response to cocaine (GO:0048148)|cellular response to copper ion (GO:0071280)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to oxidative stress (GO:0034599)|dopamine biosynthetic process (GO:0042416)|dopamine uptake involved in synaptic transmission (GO:0051583)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|long-term synaptic potentiation (GO:0060291)|microglial cell activation (GO:0001774)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrial membrane organization (GO:0007006)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of dopamine uptake involved in synaptic transmission (GO:0051585)|negative regulation of exocytosis (GO:0045920)|negative regulation of histone acetylation (GO:0035067)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of monooxygenase activity (GO:0032769)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of norepinephrine uptake (GO:0051622)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of serotonin uptake (GO:0051612)|negative regulation of thrombin receptor signaling pathway (GO:0070495)|negative regulation of transporter activity (GO:0032410)|neutral lipid metabolic process (GO:0006638)|oxidation-reduction process (GO:0055114)|phospholipid metabolic process (GO:0006644)|positive regulation of endocytosis (GO:0045807)|positive regulation of glutathione peroxidase activity (GO:1903284)|positive regulation of hydrogen peroxide catabolic process (GO:1903285)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of receptor recycling (GO:0001921)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein destabilization (GO:0031648)|receptor internalization (GO:0031623)|regulation of acyl-CoA biosynthetic process (GO:0050812)|regulation of dopamine secretion (GO:0014059)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glutamate secretion (GO:0014048)|regulation of locomotion (GO:0040012)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of macrophage activation (GO:0043030)|regulation of neuron death (GO:1901214)|regulation of phospholipase activity (GO:0010517)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to iron(II) ion (GO:0010040)|response to lipopolysaccharide (GO:0032496)|response to magnesium ion (GO:0032026)|synapse organization (GO:0050808)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular region (GO:0005576)|fibril (GO:0043205)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nuclear outer membrane (GO:0005640)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribosome (GO:0005840)|rough endoplasmic reticulum (GO:0005791)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	alpha-tubulin binding (GO:0043014)|calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dynein binding (GO:0045502)|ferrous iron binding (GO:0008198)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|oxidoreductase activity (GO:0016491)|phospholipid binding (GO:0005543)|phosphoprotein binding (GO:0051219)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)		TTGAAGCCACAAAATCCACAG	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	0			L08850	CCDS3634.1, CCDS43252.1	4q21.3-q22	2014-05-22			ENSG00000145335	ENSG00000145335		"""Parkinson disease"""	11138	protein-coding gene	gene with protein product		163890	"""Parkinson disease (autosomal dominant, Lewy body) 4"""	PARK1, PARK4		8248242, 14593171	Standard	NM_000345		Approved	NACP, PD1, alpha-synuclein	uc003hsr.3	P37840	OTTHUMG00000130948	ENST00000394986.1:c.*233T>-	4.37:g.90647546delA			A8K2A4|Q13701|Q4JHI3|Q6IAU6	RNA	DEL	-	NULL	ENST00000394986.1	37	NULL	CCDS3634.1	4																																																																																			RP11-115D19.1	-	-	ENSG00000251095		0.393	SNCA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000251095	Clone_based_vega_gene	protein_coding	OTTHUMT00000253547.2		0.00	24	0	A			90647546	+1	tier1		no_errors	ENST00000508021	ensembl	human	known	74_37	rna	21.88	25	7	DEL	1.000	-
RP11-597D13.7	0	genome.wustl.edu	37	4	159198967	159198967	+	RNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:159198967G>A	ENST00000512016.1	+	0	2329																											TAGGAGAGGCGCCAACTTCGA	0.557																																																	0																																												0																															4.37:g.159198967G>A				RNA	SNP	-	NULL	ENST00000512016.1	37	NULL		4																																																																																			RP11-597D13.7	-	-	ENSG00000251429		0.557	RP11-597D13.7-002	KNOWN	basic	processed_transcript	ENSG00000251429	Clone_based_vega_gene	pseudogene	OTTHUMT00000365621.1	-	0.00	41	0	G			159198967	+1	tier1	-	no_errors	ENST00000512016	ensembl	human	known	74_37	rna	52.00	12	13	SNP	0.114	A
KIAA1024L	100127206	genome.wustl.edu	37	5	129098338	129098338	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:129098338C>T	ENST00000564719.1	+	2	505				KIAA1024L_ENST00000334562.1_Intron|CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_001257308.1	NP_001244237.1	P59773	K102L_HUMAN	KIAA1024-like							integral component of membrane (GO:0016021)											TTATTACTTCCGTGCTTCTTT	0.328																																																	0																																										SO:0001627	intron_variant	0				CCDS58966.1	5q23.3	2013-01-16			ENSG00000186367	ENSG00000186367			33914	protein-coding gene	gene with protein product							Standard	NM_001257308		Approved		uc031skx.1	P59773	OTTHUMG00000163041	ENST00000564719.1:c.393+2040C>T	5.37:g.129098338C>T			H3BM78	RNA	SNP	-	NULL	ENST00000564719.1	37	NULL	CCDS58966.1	5																																																																																			CTC-575N7.1	-	-	ENSG00000251680		0.328	KIAA1024L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ENSG00000251680	Clone_based_vega_gene	protein_coding	OTTHUMT00000371450.2	-	0.00	95	0	C	NM_001257308		129098338	-1	tier1	-	no_errors	ENST00000503616	ensembl	human	known	74_37	rna	34.78	60	32	SNP	0.002	T
RP11-122L4.1	0	genome.wustl.edu	37	8	39418478	39418483	+	lincRNA	DEL	TGTGTG	TGTGTG	-	rs368995714|rs55954361|rs200453103|rs371686096	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TGTGTG	TGTGTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:39418478_39418483delTGTGTG	ENST00000518465.1	+	0	1360				AC123767.1_ENST00000516367.1_RNA																							TTTGTGTGtatgtgtgtatatatata	0.277																																																	0																																												0																															8.37:g.39418478_39418483delTGTGTG				RNA	DEL	-	NULL	ENST00000518465.1	37	NULL		8																																																																																			AC123767.1	-	-	ENSG00000252176		0.277	RP11-122L4.1-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000252176	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000376912.1		0.00	22	0	TGTGTG			39418483	+1			no_errors	ENST00000516367	ensembl	human	novel	74_37	rna	36.36	28	16	DEL	0.000:0.000:0.000:0.000:0.000:0.000	0
AC017020.1	0	genome.wustl.edu	37	Y	18174668	18174668	+	RNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrY:18174668G>A	ENST00000516855.1	+	0	23																											atgtgtgtgtgtatatatata	0.284																																																	0																																												0																															Y.37:g.18174668G>A				RNA	SNP	-	NULL	ENST00000516855.1	37	NULL		Y																																																																																			AC017020.1	-	-	ENSG00000252664		0.284	AC017020.1-201	NOVEL	basic	miRNA	ENSG00000252664	Clone_based_ensembl_gene	miRNA		-	0.00	12	0	G			18174668	+1	tier1	-	no_errors	ENST00000516855	ensembl	human	novel	74_37	rna	83.33	2	10	SNP	0.263	A
SNX16	64089	genome.wustl.edu	37	8	82727641	82727641	+	Intron	DEL	A	A	-	rs55997432	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:82727641delA	ENST00000345957.4	-	5	890				SNX16_ENST00000396330.2_Intron|SNX16_ENST00000353788.4_Intron|RP13-923O23.6_ENST00000524337.1_RNA	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16						early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						TTTTCAAAGGAAAAAAAAAAT	0.343													|||unknown(HR)	622	0.124201	0.0825	0.1744	5008	,	,		16519	0.1825		0.0686	False		,,,				2504	0.1421																0									,,	34,491,3737		0,0,34,13,465,1619	43.0	41.0	42.0		,,	-8.8	0.0	8	dbSNP_130	47	79,815,7360		0,0,79,17,781,3250	no	intron,intron,intron	SNX16	NM_152837.2,NM_152836.2,NM_022133.3	,,	0,0,113,30,1246,4869	A1A1,A1A2,A1R,A2A2,A2R,RR		10.8311,12.3182,11.3375	,,	,,	82727641	113,1306,11097	2201	4300	6501	SO:0001627	intron_variant	0			AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"""Sorting nexins"""	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.612-12T>-	8.37:g.82727641delA			A8K4D8|Q658L0|Q8N4U3	RNA	DEL	-	NULL	ENST00000345957.4	37	NULL	CCDS6234.1	8																																																																																			RP13-923O23.6	-	-	ENSG00000253334		0.343	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000253334	Clone_based_vega_gene	protein_coding	OTTHUMT00000379929.1		0.00	28	0	A	NM_022133		82727641	+1	tier1		no_errors	ENST00000524337	ensembl	human	known	74_37	rna	41.67	14	10	DEL	0.496	-
RBM12B	389677	genome.wustl.edu	37	8	94745547	94745548	+	3'UTR	INS	-	-	A	rs542179916|rs538204600	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:94745547_94745548insA	ENST00000399300.2	-	0	3304_3305				RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_3'UTR|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ttagataatttaaaaaaaaaaC	0.267																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.*86->T	8.37:g.94745557_94745557dupA			A8MYB5	RNA	INS	-	NULL	ENST00000399300.2	37	NULL	CCDS43755.1	8																																																																																			RP11-10N23.4	-	-	ENSG00000253722		0.267	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000253722	Clone_based_vega_gene	protein_coding	OTTHUMT00000383603.1		0.00	16	0	-	NM_203390		94745548	+1	tier1		no_errors	ENST00000517998	ensembl	human	known	74_37	rna	27.27	8	3	INS	0.001:0.000	A
Unknown	0	genome.wustl.edu	37	4	3923361	3923361	+	IGR	DEL	G	G	-	rs370950408		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:3923361delG								ADRA2C (153110 upstream) : FAM86EP (20125 downstream)																							AAACTGAAAAGGGGGGGAGCC	0.463																																																	0																																										SO:0001628	intergenic_variant	0																															4.37:g.3923361delG				RNA	DEL	-	NULL		37	NULL		4																																																																																			AC226119.5	-	-	ENSG00000253917	0	0.463					ENSG00000253917	Clone_based_vega_gene				0.00	64	0	G			3923361	-1	tier1		no_errors	ENST00000514073	ensembl	human	known	74_37	rna	31.71	28	13	DEL	0.471	-
SEC16B	89866	genome.wustl.edu	37	1	177898421	177898421	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:177898421delA	ENST00000308284.6	-	0	3844				SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)						COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AACCACATTCAAAAAAATGTG	0.348																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.*572T>-	1.37:g.177898421delA			A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	RNA	DEL	-	NULL	ENST00000308284.6	37	NULL	CCDS44281.1	1																																																																																			RP4-798P15.3	-	-	ENSG00000254154		0.348	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254154	Clone_based_vega_gene	protein_coding	OTTHUMT00000084773.16		0.00	19	0	A	NM_033127		177898421	-1	tier1		no_errors	ENST00000354921	ensembl	human	known	74_37	rna	46.15	7	6	DEL	0.047	-
NARS2	79731	genome.wustl.edu	37	11	78154811	78154812	+	Intron	DEL	AA	AA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:78154811_78154812delAA	ENST00000281038.5	-	12	1540				RP11-452H21.1_ENST00000534168.1_RNA|NARS2_ENST00000528850.1_Intron	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)						asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CAACCTAAGGAAAAAAAAAAAA	0.391																																																	0										148,10,202,3904		0,0,1,147,0,1,9,1,198,1775						-1.9	0.0			41	274,7,294,7679		0,0,0,274,0,0,7,0,294,3552	no	intron	NARS2	NM_024678.5		0,0,1,421,0,1,16,1,492,5327	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		6.9663,8.4428,7.4692				422,17,496,11583				SO:0001627	intron_variant	0			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.1165-7TT>-	11.37:g.78154821_78154822delAA			G3V178	RNA	DEL	-	NULL	ENST00000281038.5	37	NULL	CCDS8261.1	11																																																																																			RP11-452H21.1	-	-	ENSG00000254420		0.391	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254420	Clone_based_vega_gene	protein_coding	OTTHUMT00000391138.2		0.00	30	0	AA	NM_024678		78154812	+1	tier1		no_errors	ENST00000534168	ensembl	human	known	74_37	rna	66.67	11	22	DEL	0.000:0.006	-
EEF1D	1936	genome.wustl.edu	37	8	144662012	144662012	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:144662012C>T	ENST00000529272.1	-	8	1208				EEF1D_ENST00000442189.2_Intron|NAPRT1_ENST00000449291.2_5'Flank|EEF1D_ENST00000317198.6_Intron|NAPRT1_ENST00000426292.3_5'Flank|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000532400.1_Intron|RP11-661A12.7_ENST00000529247.1_RNA|NAPRT1_ENST00000276844.7_5'Flank|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000524624.1_Intron|NAPRT1_ENST00000435154.3_5'Flank|RP11-661A12.9_ENST00000531730.1_RNA|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000423316.2_Intron|EEF1D_ENST00000532741.1_Intron|EEF1D_ENST00000531621.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TGAGGAGAGGCGGAGGGTGAC	0.622																																																	0													100.0	91.0	94.0					8																	144662012		2203	4300	6503	SO:0001627	intron_variant	0			AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.808-12G>A	8.37:g.144662012C>T			B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	RNA	SNP	-	NULL	ENST00000529272.1	37	NULL	CCDS6405.1	8																																																																																			RP11-661A12.7	-	-	ENSG00000254741		0.622	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000254741	Clone_based_vega_gene	protein_coding	OTTHUMT00000382592.2	-	0.00	58	0	C	NM_032378		144662012	+1	tier1	-	no_errors	ENST00000529247	ensembl	human	known	74_37	rna	31.08	51	23	SNP	0.000	T
PTHLH	5744	genome.wustl.edu	37	12	28122681	28122681	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:28122681delA	ENST00000545234.1	-	4	519				PTHLH_ENST00000538310.1_5'Flank|PTHLH_ENST00000201015.4_Intron|PTHLH_ENST00000535992.1_Intron|PTHLH_ENST00000395872.1_Intron|PTHLH_ENST00000354417.3_Intron|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395868.3_5'UTR|PTHLH_ENST00000539239.1_5'Flank			P12272	PTHR_HUMAN	parathyroid hormone-like hormone						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GCAAAAAGGGAAAAAAGAAAC	0.383																																																	0													67.0	72.0	70.0					12																	28122681		876	1991	2867	SO:0001627	intron_variant	0				CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.22-232T>-	12.37:g.28122681delA			Q15251|Q6FH74	RNA	DEL	-	NULL	ENST00000545234.1	37	NULL	CCDS44853.1	12																																																																																			RP11-993B23.3	-	-	ENSG00000257042		0.383	PTHLH-001	KNOWN	basic|CCDS	protein_coding	ENSG00000257042	Clone_based_vega_gene	protein_coding	OTTHUMT00000402913.1		0.00	33	0	A	NM_198965		28122681	+1	tier1		no_errors	ENST00000538113	ensembl	human	known	74_37	rna	20.37	43	11	DEL	0.000	-
KCNC2	3747	genome.wustl.edu	37	12	75434784	75434784	+	3'UTR	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:75434784G>T	ENST00000549446.1	-	0	4698				KCNC2_ENST00000548513.1_3'UTR|KCNC2_ENST00000298972.1_3'UTR|KCNC2_ENST00000341669.3_3'UTR|KCNC2_ENST00000550433.1_3'UTR|RP11-81K13.1_ENST00000549762.1_RNA|RP11-81K13.1_ENST00000547040.1_RNA|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000350228.2_3'UTR	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2						action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	ACTCTCATGGGGAGCACCAGA	0.483																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.*2101C>A	12.37:g.75434784G>T			B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	RNA	SNP	-	NULL	ENST00000549446.1	37	NULL	CCDS9007.1	12																																																																																			RP11-81K13.1	-	-	ENSG00000257434		0.483	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000257434	Clone_based_vega_gene	protein_coding	OTTHUMT00000405581.2	-	0.00	53	0	G	NM_153748		75434784	+1	tier1	-	no_errors	ENST00000547040	ensembl	human	known	74_37	rna	6.35	59	4	SNP	0.980	T
KCNC2	3747	genome.wustl.edu	37	12	75435987	75435988	+	3'UTR	DEL	TT	TT	-	rs537467144		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:75435987_75435988delTT	ENST00000549446.1	-	0	3494_3495				KCNC2_ENST00000548513.1_Intron|KCNC2_ENST00000298972.1_Intron|KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000550433.1_Intron|RP11-81K13.1_ENST00000549762.1_RNA|RP11-81K13.1_ENST00000547040.1_RNA|RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000350228.2_Intron	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2						action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	ACCCTGGGTATTTTTTTTTTTT	0.371																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.*898AA>-	12.37:g.75435997_75435998delTT			B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	RNA	DEL	-	NULL	ENST00000549446.1	37	NULL	CCDS9007.1	12																																																																																			RP11-81K13.1	-	-	ENSG00000257434		0.371	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000257434	Clone_based_vega_gene	protein_coding	OTTHUMT00000405581.2		0.00	19	0	TT	NM_153748		75435988	+1	tier1		no_errors	ENST00000547040	ensembl	human	known	74_37	rna	44.00	14	11	DEL	0.005:0.007	-
KIAA0430	9665	genome.wustl.edu	37	16	15702390	15702390	+	Intron	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:15702390delG	ENST00000396368.3	-	21	4161				KIAA0430_ENST00000548025.1_Intron|KIAA0430_ENST00000547936.1_5'Flank|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000602337.1_Intron|CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000551742.1_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430						double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GAAAACACACGGGGGGAGGAA	0.418																																																	0													27.0	26.0	26.0					16																	15702390		1857	4113	5970	SO:0001627	intron_variant	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3955-15C>-	16.37:g.15702390delG			A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	RNA	DEL	-	NULL	ENST00000396368.3	37	NULL	CCDS10562.2	16																																																																																			CTB-193M12.1	-	-	ENSG00000257769		0.418	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000257769	Clone_based_vega_gene	protein_coding	OTTHUMT00000252131.2		0.00	35	0	G	NM_014647		15702390	+1	tier1		no_errors	ENST00000549756	ensembl	human	known	74_37	rna	41.94	18	13	DEL	0.000	-
PRKAG1	5571	genome.wustl.edu	37	12	49412241	49412241	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:49412241G>A	ENST00000548065.1	-	1	466				PRKAG1_ENST00000552212.1_Intron|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Intron|PRKAG1_ENST00000395170.3_Intron|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000547306.1_Intron			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit						cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	AGATTGCCACGGCATACGTGG	0.642											OREG0021779	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	0			U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.9+273C>T	12.37:g.49412241G>A		961	B4DDT7|Q8N7V9	RNA	SNP	-	NULL	ENST00000548065.1	37	NULL	CCDS8777.1	12																																																																																			RP11-386G11.5	-	-	ENSG00000257913		0.642	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000257913	Clone_based_vega_gene	protein_coding	OTTHUMT00000408946.1	-	0.00	54	0	G	NM_002733		49412241	+1	tier1	-	no_errors	ENST00000547395	ensembl	human	known	74_37	rna	33.33	26	13	SNP	0.001	A
PRKAG1	5571	genome.wustl.edu	37	12	49412461	49412461	+	Intron	DEL	G	G	-	rs373305644		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:49412461delG	ENST00000548065.1	-	1	466				PRKAG1_ENST00000552212.1_5'UTR|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Intron|PRKAG1_ENST00000395170.3_Intron|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000547306.1_Intron			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit						cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	CCTAAGGGTTGGGGGGGTGTC	0.647																																																	0													15.0	19.0	18.0					12																	49412461		691	1591	2282	SO:0001627	intron_variant	0			U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.9+53C>-	12.37:g.49412461delG			B4DDT7|Q8N7V9	RNA	DEL	-	NULL	ENST00000548065.1	37	NULL	CCDS8777.1	12																																																																																			RP11-386G11.5	-	-	ENSG00000257913		0.647	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000257913	Clone_based_vega_gene	protein_coding	OTTHUMT00000408946.1		0.00	56	0	G	NM_002733		49412461	+1	tier1		no_errors	ENST00000547395	ensembl	human	known	74_37	rna	45.83	26	22	DEL	0.377	-
AP1G2	8906	genome.wustl.edu	37	14	24034973	24034974	+	Intron	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:24034973_24034974insC	ENST00000308724.5	-	5	1401				AP1G2_ENST00000556277.1_Intron|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Intron	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CCCCATTCCTTCCCCACTGACC	0.609																																																	0																																										SO:0001627	intron_variant	0			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.645+50->G	14.37:g.24034977_24034977dupC			D3DS51|O75504	RNA	INS	-	NULL	ENST00000308724.5	37	NULL	CCDS9602.1	14																																																																																			RP11-66N24.3	-	-	ENSG00000258727		0.609	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258727	Clone_based_vega_gene	protein_coding	OTTHUMT00000071812.4		0.00	40	0	-	NM_003917		24034974	+1	tier1		no_errors	ENST00000555968	ensembl	human	known	74_37	rna	25.93	20	7	INS	0.000:0.000	C
PYGL	5836	genome.wustl.edu	37	14	51379086	51379087	+	Intron	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:51379086_51379087insT	ENST00000216392.7	-	14	1953				PYGL_ENST00000544180.2_Intron|RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000532462.1_Intron	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver						5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	TCTGGtttttcttttttttgag	0.49																																																	0																																										SO:0001627	intron_variant	0				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1621-65->A	14.37:g.51379094_51379094dupT			A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	RNA	INS	-	NULL	ENST00000216392.7	37	NULL	CCDS32080.1	14																																																																																			RP11-218E20.5	-	-	ENSG00000258745		0.490	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258745	Clone_based_vega_gene	protein_coding	OTTHUMT00000390654.3		0.00	12	0	-	NM_002863		51379087	+1	tier1		no_errors	ENST00000557343	ensembl	human	known	74_37	rna	22.22	7	2	INS	0.329:0.559	T
PNP	4860	genome.wustl.edu	37	14	20943125	20943125	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:20943125delT	ENST00000361505.5	+	4	607				RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase						digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						TGTTACTCCGTTTTTTTTAGG	0.418																																																	0													73.0	73.0	73.0					14																	20943125		2203	4300	6503	SO:0001627	intron_variant	0				CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"""nucleoside phosphorylase"""	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.461+18T>-	14.37:g.20943125delT				RNA	DEL	-	NULL	ENST00000361505.5	37	NULL	CCDS9552.1	14																																																																																			RP11-203M5.8	-	-	ENSG00000258908		0.418	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258908	Clone_based_vega_gene	protein_coding	OTTHUMT00000073646.2		0.00	40	0	T	NM_000270.2		20943125	-1	tier1		no_errors	ENST00000554678	ensembl	human	known	74_37	rna	23.08	30	9	DEL	0.004	-
PRTG	283659	genome.wustl.edu	37	15	55972661	55972663	+	Intron	DEL	TTT	TTT	-	rs35467969		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:55972661_55972663delTTT	ENST00000389286.4	-	5	862				RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGGAAAAGACTTTTTTTTTTTTT	0.32																																																	0																																										SO:0001627	intron_variant	0			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.814+25AAA>-	15.37:g.55972670_55972672delTTT				RNA	DEL	-	NULL	ENST00000389286.4	37	NULL	CCDS42040.1	15																																																																																			RP11-420M1.2	-	-	ENSG00000259180		0.320	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000259180	Clone_based_vega_gene	protein_coding	OTTHUMT00000419357.1		0.00	15	0	TTT	NM_173814		55972663	+1	tier1		no_errors	ENST00000561155	ensembl	human	known	74_37	rna	52.38	10	11	DEL	0.000:0.000:0.000	-
BAHD1	22893	genome.wustl.edu	37	15	40756486	40756486	+	Intron	SNP	T	T	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:40756486T>G	ENST00000416165.1	+	5	2046				RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000561234.1_Intron|BAHD1_ENST00000560846.1_Intron	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1						heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CTTCTCCCCCTTCTCCCTCCA	0.597																																																	0																																										SO:0001627	intron_variant	0			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1976-184T>G	15.37:g.40756486T>G			Q8NDF7|Q9Y2F4	RNA	SNP	-	NULL	ENST00000416165.1	37	NULL	CCDS10058.1	15																																																																																			RP11-64K12.8	-	-	ENSG00000259211		0.597	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000259211	Clone_based_vega_gene	protein_coding	OTTHUMT00000252248.1	-	0.00	15	0	T	NM_014952		40756486	-1	tier1	-	no_errors	ENST00000559730	ensembl	human	known	74_37	rna	57.14	3	4	SNP	0.000	G
SCG3	29106	genome.wustl.edu	37	15	51987960	51987960	+	Intron	DEL	A	A	-	rs78233272|rs370571693		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:51987960delA	ENST00000220478.3	+	8	1271				SCG3_ENST00000542355.2_Intron|RP11-313P18.2_ENST00000559918.1_lincRNA	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III						blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ctcgtctttgaaaaaaaaaaa	0.403																																																	0																																										SO:0001627	intron_variant	0			AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.869-112A>-	15.37:g.51987960delA			A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	RNA	DEL	-	NULL	ENST00000220478.3	37	NULL	CCDS10142.1	15																																																																																			RP11-313P18.2	-	-	ENSG00000259241		0.403	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000259241	Clone_based_vega_gene	protein_coding	OTTHUMT00000254670.2		0.00	23	0	A	NM_013243		51987960	-1	tier1		no_errors	ENST00000559918	ensembl	human	known	74_37	rna	6.90	27	2	DEL	0.006	-
SCN8A	6334	genome.wustl.edu	37	12	52204038	52204039	+	3'UTR	INS	-	-	A	rs74092804|rs11833203|rs201910276	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:52204038_52204039insA	ENST00000354534.6	+	0	8946_8947				AC068987.1_ENST00000599343.1_Frame_Shift_Ins_p.LK27fs|RP11-923I11.3_ENST00000565518.1_lincRNA	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	TTTCACTTTTTAAAAAAAAAAT	0.475																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.*2826->A	12.37:g.52204048_52204048dupA			B9VWG8|O95788|Q9NYX2|Q9UPB2	Frame_Shift_Ins	INS	NULL	p.K31fs	ENST00000354534.6	37	c.80_81	CCDS44891.1	12																																																																																			AC068987.1	-	NULL	ENSG00000260415		0.475	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000260415	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000404372.3		0.00	27	0	-	NM_014191		52204039	+1	tier1		no_errors	ENST00000599343	ensembl	human	known	74_37	frame_shift_ins	36.36	21	12	INS	0.000:0.001	A
DYNC1LI2	1783	genome.wustl.edu	37	16	66755236	66755236	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:66755236delT	ENST00000258198.2	-	0	4074				RP11-63M22.2_ENST00000569274.1_RNA	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TTTTCTCTGATTTTTTTTTTT	0.313																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.*2389A>-	16.37:g.66755236delT			A8K6V1|B4DZP4|Q8TAT3	RNA	DEL	-	NULL	ENST00000258198.2	37	NULL	CCDS10818.1	16																																																																																			RP11-63M22.2	-	-	ENSG00000260465		0.313	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000260465	Clone_based_vega_gene	protein_coding	OTTHUMT00000268846.1		0.00	36	0	T	NM_006141		66755236	+1	tier1		no_errors	ENST00000569274	ensembl	human	known	74_37	rna	47.06	18	16	DEL	0.712	-
RP11-1166P10.1	0	genome.wustl.edu	37	16	31998189	31998189	+	RNA	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:31998189C>A	ENST00000568570.1	+	0	662																											TGGCTGCACGCTGTCACATTG	0.612																																																	0																																												0																															16.37:g.31998189C>A				RNA	SNP	-	NULL	ENST00000568570.1	37	NULL		16																																																																																			RP11-1166P10.1	-	-	ENSG00000260628		0.612	RP11-1166P10.1-002	KNOWN	basic	processed_transcript	ENSG00000260628	Clone_based_vega_gene	pseudogene	OTTHUMT00000432457.1	-	0.00	75	0	C			31998189	+1	tier1	-	no_errors	ENST00000568570	ensembl	human	known	74_37	rna	39.39	40	26	SNP	1.000	A
SALL1	6299	genome.wustl.edu	37	16	51183171	51183171	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:51183171delT	ENST00000251020.4	-	1	110				SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Intron|AC009166.5_ENST00000570060.1_RNA|SALL1_ENST00000562674.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1						adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGGCCGAGACTTTTTTTTTTT	0.318																																					GBM(103;1352 1446 1855 4775 8890)												0																																										SO:0001627	intron_variant	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.76+1905A>-	16.37:g.51183171delT			Q99881|Q9NSC3|Q9P1R0	RNA	DEL	-	NULL	ENST00000251020.4	37	NULL	CCDS10747.1	16																																																																																			AC009166.5	-	-	ENSG00000261238		0.318	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261238	Clone_based_vega_gene	protein_coding	OTTHUMT00000256883.2		0.00	9	0	T	NM_002968		51183171	+1	tier1		no_errors	ENST00000570060	ensembl	human	known	74_37	rna	44.44	10	8	DEL	0.007	-
ATP2C2	9914	genome.wustl.edu	37	16	84493954	84493954	+	Intron	DEL	G	G	-	rs376234583	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:84493954delG	ENST00000262429.4	+	24	2422				RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000420010.2_Intron|ATP2C2_ENST00000416219.2_Intron	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCGCAACGTTGGGGGGGGTCC	0.617																																																	0																																										SO:0001627	intron_variant	0			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2334-306G>-	16.37:g.84493954delG			B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	RNA	DEL	-	NULL	ENST00000262429.4	37	NULL	CCDS42207.1	16																																																																																			RP11-517C16.2	-	-	ENSG00000261286		0.617	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261286	Clone_based_vega_gene	protein_coding	OTTHUMT00000433404.1		0.00	74	0	G	NM_014861		84493954	-1	tier1		no_errors	ENST00000565700	ensembl	human	known	74_37	rna	10.64	84	10	DEL	0.000	-
CENPBD1	92806	genome.wustl.edu	37	16	90038592	90038592	+	5'UTR	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:90038592G>A	ENST00000314994.3	-	0	350				AFG3L1P_ENST00000437774.1_RNA|RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_5'UTR	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1							nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(2)	3						CCGTGCGGCCGCAGGCACATA	0.667																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK056131	CCDS45556.1	16q24.3	2009-08-26			ENSG00000177946	ENSG00000177946			28272	protein-coding gene	gene with protein product							Standard	NM_145039		Approved	MGC16385	uc002fpr.3	B2RD01		ENST00000314994.3:c.-262C>T	16.37:g.90038592G>A				RNA	SNP	-	NULL	ENST00000314994.3	37	NULL	CCDS45556.1	16																																																																																			RP11-566K11.5	-	-	ENSG00000261317		0.667	CENPBD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261317	Clone_based_vega_gene	protein_coding	OTTHUMT00000421897.1	-	0.00	55	0	G	NM_145039		90038592	+1	tier1	-	no_errors	ENST00000565150	ensembl	human	known	74_37	rna	40.00	30	20	SNP	0.000	A
HEXA	3073	genome.wustl.edu	37	15	72638557	72638557	+	Intron	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:72638557delC	ENST00000268097.5	-	12	1925				RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_3'UTR|HEXA_ENST00000566304.1_Intron|HEXA_ENST00000567159.1_Intron|HEXA_ENST00000457859.2_Intron	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)						carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CCCTCCACCTCCCCCCCGAAA	0.557																																																	0													43.0	39.0	40.0					15																	72638557		2199	4297	6496	SO:0001627	intron_variant	0			M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.1421+18G>-	15.37:g.72638557delC			B4DKE7|E7ENH7|Q53HS8|Q6AI32	RNA	DEL	-	NULL	ENST00000268097.5	37	NULL	CCDS10243.1	15																																																																																			RP11-106M3.3	-	-	ENSG00000261460		0.557	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261460	Clone_based_vega_gene	protein_coding	OTTHUMT00000257317.2		0.00	32	0	C	NM_000520		72638557	+1	tier1		no_errors	ENST00000570175	ensembl	human	known	74_37	rna	38.24	21	13	DEL	0.000	-
KPNB1	3837	genome.wustl.edu	37	17	45760047	45760047	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:45760047delA	ENST00000290158.4	+	0	3315				RP11-138C9.1_ENST00000578482.1_RNA	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1						apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						TTACTTATTTAAAAAAAAAGA	0.433																																																	0																																										SO:0001624	3_prime_UTR_variant	0			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.*277A>-	17.37:g.45760047delA			B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	RNA	DEL	-	NULL	ENST00000290158.4	37	NULL	CCDS11513.1	17																																																																																			RP11-138C9.1	-	-	ENSG00000264558		0.433	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000264558	Clone_based_vega_gene	protein_coding	OTTHUMT00000089755.2		0.00	26	0	A	NM_002265		45760047	-1	tier1		no_errors	ENST00000578482	ensembl	human	known	74_37	rna	30.00	21	9	DEL	0.001	-
PIEZO2	63895	genome.wustl.edu	37	18	10727320	10727320	+	Intron	SNP	C	C	A	rs573922244		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:10727320C>A	ENST00000503781.3	-	33	4855				PIEZO2_ENST00000580640.1_Intron|RP11-21G15.1_ENST00000581724.1_RNA|PIEZO2_ENST00000302079.6_Intron	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2						cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										CCTTCCCTCACCTGTCCCCTT	0.557																																																	0																																										SO:0001627	intron_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.4855+4084G>T	18.37:g.10727320C>A			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	RNA	SNP	-	NULL	ENST00000503781.3	37	NULL		18																																																																																			RP11-21G15.1	-	-	ENSG00000264714		0.557	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	ENSG00000264714	Clone_based_vega_gene	protein_coding	OTTHUMT00000442385.4	-	0.00	19	0	C	NM_022068		10727320	+1	tier1	-	no_errors	ENST00000581724	ensembl	human	known	74_37	rna	20.00	16	4	SNP	0.185	A
MTAP	4507	genome.wustl.edu	37	9	21861903	21861904	+	Intron	DEL	TT	TT	-	rs11356405|rs67222036	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:21861903_21861904delTT	ENST00000460874.2	+	8	1089				MTAP_ENST00000380172.4_Intron|MTAP_ENST00000580900.1_Intron|RP11-70L8.4_ENST00000581788.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron					methylthioadenosine phosphorylase									p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)		TCAAAATCTGTTTTTTTTTTTA	0.327																																																	2	Whole gene deletion(2)	lung(2)								38,2,537,3687		0,0,0,38,0,2,0,40,455,1597						-0.2	0.0		dbSNP_120	63	87,14,283,7870		0,0,0,87,6,0,2,13,257,3762	no	intron	MTAP	NM_002451.3		0,0,0,125,6,2,2,53,712,5359	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.6523,13.5319,7.6769				125,16,820,11557				SO:0001627	intron_variant	0			AB062485	CCDS6509.1	9p21	2013-05-29			ENSG00000099810	ENSG00000099810	2.4.2.28		7413	protein-coding gene	gene with protein product	"""S-methyl-5'-thioadenosine phosphorylase"""	156540				11126361	Standard	NM_002451		Approved	MSAP, c86fus	uc003zph.3	Q13126	OTTHUMG00000019690	ENST00000460874.2:c.865-71TT>-	9.37:g.21861911_21861912delTT				RNA	DEL	-	NULL	ENST00000460874.2	37	NULL		9																																																																																			RP11-70L8.4	-	-	ENSG00000265194		0.327	MTAP-003	PUTATIVE	basic|exp_conf	protein_coding	ENSG00000265194	Clone_based_vega_gene	protein_coding	OTTHUMT00000051929.2		0.00	26	0	TT	NM_002451		21861904	-1	tier1		no_errors	ENST00000581788	ensembl	human	known	74_37	rna	53.85	6	7	DEL	0.000:0.000	-
AC010543.1	0	genome.wustl.edu	37	16	57908381	57908382	+	RNA	DEL	AA	AA	-	rs57339735	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:57908381_57908382delAA	ENST00000580935.1	-	0	52_53																											acttaagcttaaaaaaaaaaac	0.307																																																	0																																												0																															16.37:g.57908389_57908390delAA				RNA	DEL	-	NULL	ENST00000580935.1	37	NULL		16																																																																																			AC010543.1	-	-	ENSG00000265209		0.307	AC010543.1-201	NOVEL	basic	miRNA	ENSG00000265209	Clone_based_ensembl_gene	miRNA			0.00	23	0	AA			57908382	-1	tier1		no_errors	ENST00000580935	ensembl	human	novel	74_37	rna	45.83	13	11	DEL	0.000:0.000	-
GTF2H5	404672	genome.wustl.edu	37	6	158596080	158596081	+	Intron	DEL	AC	AC	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:158596080_158596081delAC	ENST00000607778.1	+	2	113				AL590703.1_ENST00000580588.1_RNA	NM_207118.2	NP_997001.1	Q6ZYL4	TF2H5_HUMAN	general transcription factor IIH, polypeptide 5						cellular response to gamma radiation (GO:0071480)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, preincision complex assembly (GO:0006294)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription elongation from RNA polymerase I promoter (GO:0006362)	core TFIIH complex (GO:0000439)|nucleolus (GO:0005730)	rDNA binding (GO:0000182)						Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;5.98e-18)|BRCA - Breast invasive adenocarcinoma(81;2.83e-05)		gtgtgtgtATACACACACACAC	0.411								Nucleotide excision repair (NER)																																									0																																										SO:0001627	intron_variant	0			AK055106	CCDS5256.1	6q25.3	2014-09-17	2004-07-15	2004-07-16		ENSG00000272047		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	21157	protein-coding gene	gene with protein product	"""DNA repair syndrome trichothiodystrophy group A"""	608780	"""chromosome 6 open reading frame 175"", ""trichothiodystrophy"""	C6orf175, TTD		15220921	Standard	NM_207118		Approved	FLJ30544, bA120J8.2, TTD-A, TFB5, TFIIH, TTDA	uc003qrd.3	Q6ZYL4		ENST00000607778.1:c.35+4510AC>-	6.37:g.158596090_158596091delAC			Q0P5V8	RNA	DEL	-	NULL	ENST00000607778.1	37	NULL	CCDS5256.1	6																																																																																			AL590703.1	-	-	ENSG00000265803		0.411	GTF2H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000265803	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000042865.2		0.00	30	0	AC	NM_207118		158596081	+1	tier1		no_errors	ENST00000580588	ensembl	human	novel	74_37	rna	23.08	20	6	DEL	0.000:0.001	-
YPEL2	388403	genome.wustl.edu	37	17	57477848	57477849	+	3'UTR	DEL	TT	TT	-	rs3835025	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:57477848_57477849delTT	ENST00000312655.4	+	0	3975_3976				RP11-567L7.5_ENST00000585190.1_RNA	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)							nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ATGTTTTCAGTTTTTTTTTTTT	0.342																																					Melanoma(86;1113 1364 8518 42220 42625)												0																																										SO:0001624	3_prime_UTR_variant	0			AF305195	CCDS32695.1	17q23	2004-02-20				ENSG00000175155			18326	protein-coding gene	gene with protein product		609723					Standard	NM_001005404		Approved	FKSG4	uc002ixm.1	Q96QA6		ENST00000312655.4:c.*3298TT>-	17.37:g.57477858_57477859delTT			A0PK16|A2RUG4|Q65ZA0|Q8N3W2	RNA	DEL	-	NULL	ENST00000312655.4	37	NULL	CCDS32695.1	17																																																																																			RP11-567L7.5	-	-	ENSG00000266002		0.342	YPEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266002	Clone_based_vega_gene	protein_coding	OTTHUMT00000446032.1		0.00	27	0	TT	XM_371070		57477849	-1	tier1		no_errors	ENST00000585190	ensembl	human	known	74_37	rna	21.28	37	10	DEL	0.648:0.971	-
TBC1D29	26083	genome.wustl.edu	37	17	28885005	28885005	+	5'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:28885005delA	ENST00000580161.1	+	0	876				TBC1D29_ENST00000584297.1_5'Flank|TBC1D29_ENST00000579181.1_5'Flank|RP11-218M11.6_ENST00000582125.1_RNA			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29								Rab GTPase activator activity (GO:0005097)			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				gtgcaaactgaaaaaaaaaag	0.453																																																	0																																										SO:0001623	5_prime_UTR_variant	0			BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.-1622A>-	17.37:g.28885005delA				RNA	DEL	-	NULL	ENST00000580161.1	37	NULL	CCDS32606.1	17																																																																																			RP11-218M11.6	-	-	ENSG00000266775		0.453	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000266775	Clone_based_vega_gene	protein_coding	OTTHUMT00000443632.1		0.00	68	0	A	NM_015594		28885005	-1	tier1		no_errors	ENST00000582125	ensembl	human	known	74_37	rna	17.54	47	10	DEL	0.003	-
RP11-848P1.9	0	genome.wustl.edu	37	17	29349145	29349145	+	RNA	SNP	G	G	A	rs564994527	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:29349145G>A	ENST00000579692.1	+	0	525																		p.?(1)									atatacatatgtgtgtgtgta	0.299													-|||	6	0.00119808	0.0045	0.0	5008	,	,		16024	0.0		0.0	False		,,,				2504	0.0																1	Unknown(1)	central_nervous_system(1)																																										0																															17.37:g.29349145G>A				RNA	SNP	-	NULL	ENST00000579692.1	37	NULL		17																																																																																			RP11-848P1.9	-	-	ENSG00000266865		0.299	RP11-848P1.9-003	KNOWN	basic	processed_transcript	ENSG00000266865	Clone_based_vega_gene	pseudogene	OTTHUMT00000445165.1	-	0.00	27	0	G			29349145	+1	tier1	-	no_errors	ENST00000579692	ensembl	human	known	74_37	rna	11.90	37	5	SNP	0.185	A
CEACAM16	388551	genome.wustl.edu	37	19	45202434	45202434	+	5'UTR	SNP	G	G	A	rs565604521		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:45202434G>A	ENST00000587331.1	+	0	14				CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_5'Flank	NM_001039213.2	NP_001034302.2	Q2WEN9	CEA16_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16						sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)|stereocilium bundle tip (GO:0032426)				endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				catcctcagcgcctagaacag	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		19613	0.0		0.0	False		,,,				2504	0.001																0													147.0	125.0	132.0					19																	45202434		692	1591	2283	SO:0001623	5_prime_UTR_variant	0				CCDS54278.1	19q13.31	2014-01-27			ENSG00000213892	ENSG00000213892		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31948	protein-coding gene	gene with protein product		614591				21368133	Standard	NM_001039213		Approved	DFNA4B	uc010xxd.2	Q2WEN9	OTTHUMG00000151519	ENST00000587331.1:c.-202G>A	19.37:g.45202434G>A			A7LI12	RNA	SNP	-	NULL	ENST00000587331.1	37	NULL	CCDS54278.1	19																																																																																			CTB-171A8.1	-	-	ENSG00000266903		0.478	CEACAM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266903	Clone_based_vega_gene	protein_coding	OTTHUMT00000322986.2	-	0.00	40	0	G	XM_371177		45202434	-1	tier1	-	no_errors	ENST00000590796	ensembl	human	known	74_37	rna	19.44	29	7	SNP	0.000	A
ATP8B1	5205	genome.wustl.edu	37	18	55335787	55335789	+	Intron	DEL	AAA	AAA	-	rs113609179		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:55335787_55335789delAAA	ENST00000283684.4	-	18	2097				ATP8B1_ENST00000536015.1_Intron|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				AATGtatattaaaaaaaaaaaaa	0.355																																																	0																																										SO:0001627	intron_variant	0			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2098-15TTT>-	18.37:g.55335796_55335798delAAA			Q9BTP8	RNA	DEL	-	NULL	ENST00000283684.4	37	NULL	CCDS11965.1	18																																																																																			RP11-35G9.3	-	-	ENSG00000267040		0.355	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267040	Clone_based_vega_gene	protein_coding	OTTHUMT00000256097.1		0.00	24	0	AAA	NM_005603		55335789	+1	tier1		no_errors	ENST00000592201	ensembl	human	known	74_37	rna	36.00	16	9	DEL	0.000:0.000:0.000	-
UCKL1	54963	genome.wustl.edu	37	20	62585044	62585044	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:62585044delA	ENST00000354216.6	-	1	156				UCKL1_ENST00000369892.3_Intron|AL118506.1_ENST00000595604.1_Frame_Shift_Del_p.Q13fs|UCKL1_ENST00000369908.5_5'Flank|UCKL1_ENST00000358711.3_Intron	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1						CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ctctatctccaaaaaaaaaag	0.547																																																	0																																										SO:0001627	intron_variant	0			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.113+2568T>-	20.37:g.62585044delA			B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Frame_Shift_Del	DEL	NULL	p.K16fs	ENST00000354216.6	37	c.38	CCDS13547.1	20																																																																																			AL118506.1	-	NULL	ENSG00000267848		0.547	UCKL1-001	KNOWN	basic|CCDS	protein_coding	ENSG00000267848	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000080236.1		0.00	12	0	A	NM_017859		62585044	+1	tier1		no_errors	ENST00000595604	ensembl	human	known	74_37	frame_shift_del	30.00	7	3	DEL	0.024	-
ZNF772	400720	genome.wustl.edu	37	19	57988704	57988704	+	5'UTR	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:57988704C>A	ENST00000343280.4	-	0	234				ZNF772_ENST00000356584.3_5'UTR|ZNF772_ENST00000425074.3_5'UTR|ZNF772_ENST00000601768.1_5'UTR|AC004076.9_ENST00000415705.3_5'UTR|ZNF772_ENST00000427512.2_5'UTR|ZNF772_ENST00000600175.1_5'UTR|AC003005.2_ENST00000595422.1_lincRNA|AC004076.9_ENST00000596831.1_5'UTR	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GGAAGGGTGGCGACAAGTGCA	0.672											OREG0025695	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(5;289 436 14293 15924 30817)												0													46.0	57.0	53.0					19																	57988704		2202	4300	6502	SO:0001623	5_prime_UTR_variant	0			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.-27G>T	19.37:g.57988704C>A		1027	A6NJK9|B4DH56|B4DYS0	RNA	SNP	-	NULL	ENST00000343280.4	37	NULL	CCDS33133.1	19																																																																																			AC004076.9	-	-	ENSG00000268163		0.672	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000268163	Clone_based_vega_gene	protein_coding	OTTHUMT00000397447.1	-	0.00	61	0	C	NM_001024596		57988704	-1	tier1	-	no_errors	ENST00000415705	ensembl	human	known	74_37	rna	31.25	44	20	SNP	0.000	A
SP9	100131390	genome.wustl.edu	37	2	175201785	175201785	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:175201785G>A	ENST00000394967.2	+	2	1119	c.972G>A	c.(970-972)gcG>gcA	p.A324A	AC018470.1_ENST00000595354.1_Missense_Mutation_p.R123C	NM_001145250.1	NP_001138722.1	P0CG40	SP9_HUMAN	Sp9 transcription factor	324					embryonic limb morphogenesis (GO:0030326)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(1)	1						CGGCCGGGGCGAGCCTGCGGC	0.751																																																	0													2.0	3.0	3.0					2																	175201785		586	1397	1983	SO:0001819	synonymous_variant	0				CCDS46453.1	2q31.1	2013-01-08	2012-12-07		ENSG00000217236	ENSG00000217236		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	30690	protein-coding gene	gene with protein product	"""zinc finger protein 990"""		"""Sp9 transcription factor homolog (mouse)"""				Standard	NM_001145250		Approved	ZNF990	uc010zem.1	P0CG40	OTTHUMG00000150371	ENST00000394967.2:c.972G>A	2.37:g.175201785G>A				Missense_Mutation	SNP	NULL	p.R123C	ENST00000394967.2	37	c.367	CCDS46453.1	2																																																																																			AC018470.1	-	NULL	ENSG00000268241		0.751	SP9-001	NOVEL	not_organism_supported|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ENSG00000268241	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000317878.1	-	0.00	20	0	G	NM_001145250		175201785	-1	tier1	-	no_errors	ENST00000595354	ensembl	human	known	74_37	missense	42.86	4	3	SNP	1.000	A
CTC-444N24.8	0	genome.wustl.edu	37	19	57773719	57773721	+	lincRNA	DEL	AAA	AAA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:57773719_57773721delAAA	ENST00000600047.1	+	0	998_1000																											TGTAACCAAGAAAAAAAAAAAAA	0.325																																																	0																																												0																															19.37:g.57773728_57773730delAAA				RNA	DEL	-	NULL	ENST00000600047.1	37	NULL		19																																																																																			CTC-444N24.8	-	-	ENSG00000268713		0.325	CTC-444N24.8-001	KNOWN	basic	lincRNA	ENSG00000268713	Clone_based_vega_gene	lincRNA	OTTHUMT00000465723.1		0.00	46	0	AAA			57773721	+1	tier1		no_errors	ENST00000600047	ensembl	human	known	74_37	rna	65.08	22	41	DEL	0.000:0.002:0.001	-
RAB8A	4218	genome.wustl.edu	37	19	16244264	16244265	+	3'UTR	DEL	TT	TT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:16244264_16244265delTT	ENST00000300935.3	+	0	2047_2048				HSH2D_ENST00000253680.6_5'Flank|CTD-2231E14.8_ENST00000599676.1_RNA|HSH2D_ENST00000593154.2_5'Flank|HSH2D_ENST00000397372.4_5'Flank|CTD-2231E14.8_ENST00000597983.1_RNA	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family						axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						tttttctttctttttttttttt	0.455																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"""RAB, member RAS oncogene"""	7007	protein-coding gene	gene with protein product		165040	"""mel transforming oncogene (derived from cell line NK14)"""	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.*1151TT>-	19.37:g.16244274_16244275delTT			B4DEK7|P24407|Q6FHV5	RNA	DEL	-	NULL	ENST00000300935.3	37	NULL	CCDS12339.1	19																																																																																			CTD-2231E14.8	-	-	ENSG00000269243		0.455	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269243	Clone_based_vega_gene	protein_coding	OTTHUMT00000460186.1		0.00	20	0	TT	NM_005370		16244265	-1	tier1		no_errors	ENST00000599676	ensembl	human	known	74_37	rna	71.43	6	15	DEL	0.000:0.001	-
PCF11	51585	genome.wustl.edu	37	11	82896644	82896644	+	3'UTR	DEL	T	T	-	rs141819514	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:82896644delT	ENST00000298281.4	+	0	5828				RP11-727A23.11_ENST00000602322.1_lincRNA|RP11-727A23.4_ENST00000528133.1_RNA	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CTAAAGGTGATTTTTTTTTTA	0.264													|||unknown(HR)	568	0.113419	0.1853	0.0735	5008	,	,		15218	0.0575		0.0845	False		,,,				2504	0.1319																0																																										SO:0001624	3_prime_UTR_variant	0			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.*708T>-	11.37:g.82896644delT			A6H8W7|O43671|Q6P0X8	RNA	DEL	-	NULL	ENST00000298281.4	37	NULL	CCDS44689.1	11																																																																																			RP11-727A23.11	-	-	ENSG00000269939		0.264	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000269939	Clone_based_vega_gene	protein_coding	OTTHUMT00000392548.2		0.00	67	0	T	NM_015885		82896644	-1	tier1		no_errors	ENST00000602322	ensembl	human	known	74_37	rna	33.68	63	32	DEL	1.000	-
WASH6P	653440	genome.wustl.edu	37	X	155255058	155255058	+	RNA	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:155255058delC	ENST00000461007.1	+	0	3974				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										ATGACACCTTCCCCCCCAGAC	0.637																																																	0																																												0			AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255058delC			A6NGF1|Q8N305	RNA	DEL	-	NULL	ENST00000461007.1	37	NULL		X																																																																																			AJ271736.10	-	-	ENSG00000270726		0.637	WASH6P-016	KNOWN	basic	processed_transcript	ENSG00000270726	Clone_based_vega_gene	pseudogene	OTTHUMT00000058840.1		0.00	288	0	C	NG_008380		155255058	+1	tier1		no_errors	ENST00000285718	ensembl	human	known	74_37	rna	11.84	216	29	DEL	0.076	-
CCDC85A	114800	genome.wustl.edu	37	2	56612188	56612188	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:56612188delT	ENST00000407595.2	+	0	2862				RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A											breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAAATATATCTTTTTTTTTCA	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.*698T>-	2.37:g.56612188delT				RNA	DEL	-	NULL	ENST00000407595.2	37	NULL	CCDS46290.1	2																																																																																			RP11-482H16.1	-	-	ENSG00000271894		0.328	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000271894	Clone_based_vega_gene	protein_coding	OTTHUMT00000324993.1		0.00	67	0	T			56612188	+1	tier1		no_errors	ENST00000607540	ensembl	human	known	74_37	rna	29.31	41	17	DEL	0.005	-
CEBPZ	10153	genome.wustl.edu	37	2	37438026	37438027	+	Intron	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:37438026_37438027insC	ENST00000234170.5	-	13	3030				AC007390.5_ENST00000397064.2_Intron|RP11-423P10.2_ENST00000606229.1_RNA	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				CTTAAAAAGAACCCCCCCCACC	0.312																																																	0																																										SO:0001627	intron_variant	0			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.2884+114->G	2.37:g.37438034_37438034dupC			Q8NE75	RNA	INS	-	NULL	ENST00000234170.5	37	NULL	CCDS1787.1	2																																																																																			RP11-423P10.2	-	-	ENSG00000272054		0.312	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000272054	Clone_based_vega_gene	protein_coding	OTTHUMT00000218569.2		0.00	19	0	-	NM_005760		37438027	+1	tier1		no_errors	ENST00000606229	ensembl	human	known	74_37	rna	26.09	17	6	INS	0.000:0.000	C
CUL4B	8450	genome.wustl.edu	37	X	119678199	119678199	+	Intron	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:119678199T>C	ENST00000404115.3	-	8	1539				snoU13_ENST00000605987.1_RNA|CUL4B_ENST00000336592.6_Intron|CUL4B_ENST00000371322.5_Intron	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B						cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						gcatgatgattgggtttttat	0.348																																																	0																																										SO:0001627	intron_variant	0			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1137+136A>G	X.37:g.119678199T>C			B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	RNA	SNP	-	NULL	ENST00000404115.3	37	NULL	CCDS35379.1	X																																																																																			snoU13	-	-	ENSG00000272179		0.348	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	ENSG00000272179	RFAM	protein_coding	OTTHUMT00000058103.1	-	0.00	12	0	T	NM_003588		119678199	+1	tier1	-	no_errors	ENST00000605987	ensembl	human	novel	74_37	rna	66.67	3	6	SNP	0.001	C
LOC102723968	102723968	genome.wustl.edu	37	13	64411581	64411582	+	lincRNA	DEL	AA	AA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:64411581_64411582delAA	ENST00000607822.1	-	0	2159				RP11-394A14.4_ENST00000606894.1_lincRNA																							AAACACTGAGAAAAAAAAAAAA	0.53																																																	0																																												0																															13.37:g.64411591_64411592delAA				RNA	DEL	-	NULL	ENST00000607822.1	37	NULL		13																																																																																			RP11-394A14.4	-	-	ENSG00000272299		0.530	RP11-394A14.2-002	KNOWN	basic	lincRNA	ENSG00000272299	Clone_based_vega_gene	lincRNA	OTTHUMT00000471084.1		0.00	20	0	AA			64411582	-1	tier1		no_errors	ENST00000606894	ensembl	human	known	74_37	rna	64.00	9	16	DEL	0.288:0.278	-
DENND4C	55667	genome.wustl.edu	37	9	19371688	19371688	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:19371688delA	ENST00000380432.2	+	27	4853				RP11-513M16.7_ENST00000609609.1_RNA|DENND4C_ENST00000602925.1_Intron|DENND4C_ENST00000434457.2_Intron			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C						cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTTCACCATTAAAAAAAATGC	0.279																																																	0										13,4199		1,11,2094	69.0	57.0	61.0			2.3	0.0	9		61	20,8128		5,10,4059	no	intron	DENND4C	NM_017925.4		6,21,6153	A1A1,A1R,RR		0.2455,0.3086,0.267			19371688	33,12327	692	1563	2255	SO:0001627	intron_variant	0			AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4821-66A>-	9.37:g.19371688delA			A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	RNA	DEL	-	NULL	ENST00000380432.2	37	NULL		9																																																																																			RP11-513M16.7	-	-	ENSG00000272842		0.279	DENND4C-201	KNOWN	basic	protein_coding	ENSG00000272842	Clone_based_vega_gene	protein_coding			0.00	53	0	A	NM_017925		19371688	-1	tier1		no_errors	ENST00000609609	ensembl	human	known	74_37	rna	34.00	33	17	DEL	0.000	-
RP11-440D17.3	0	genome.wustl.edu	37	2	96192343	96192343	+	lincRNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:96192343G>A	ENST00000609975.1	-	0	107				AC009237.8_ENST00000608013.1_RNA																							CGCTGACGCCGCGCTCCATGC	0.706																																																	0																																												0																															2.37:g.96192343G>A				RNA	SNP	-	NULL	ENST00000609975.1	37	NULL		2																																																																																			RP11-440D17.3	-	-	ENSG00000272913		0.706	RP11-440D17.3-001	KNOWN	basic	lincRNA	ENSG00000272913	Clone_based_vega_gene	lincRNA	OTTHUMT00000472064.1	-	0.00	10	0	G			96192343	-1	tier1	-	no_errors	ENST00000609975	ensembl	human	known	74_37	rna	66.67	2	4	SNP	0.058	A
ALG12	79087	genome.wustl.edu	37	22	50297002	50297002	+	3'UTR	DEL	G	G	-	rs77163946	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:50297002delG	ENST00000330817.6	-	0	2224				CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GCACCAGGGTGGGGGGGTGCG	0.552																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.*484C>-	22.37:g.50297002delG			A6PWM1|Q4KMH4|Q8NG10|Q96AA4	RNA	DEL	-	NULL	ENST00000330817.6	37	NULL	CCDS14081.1	22																																																																																			CITF22-1A6.3	-	-	ENSG00000273192		0.552	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000273192	Clone_based_vega_gene	protein_coding	OTTHUMT00000317405.2		0.00	66	0	G	NM_024105		50297002	+1	tier1		no_errors	ENST00000610245	ensembl	human	known	74_37	rna	26.19	31	11	DEL	0.000	-
PBX2	5089	genome.wustl.edu	37	6	32153476	32153476	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:32153476delA	ENST00000375050.4	-	0	2246				AGER_ENST00000538695.1_5'Flank|AGER_ENST00000375055.2_5'Flank|AGER_ENST00000375076.4_5'Flank|AGER_ENST00000375067.3_5'Flank|AGER_ENST00000375070.3_5'Flank|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375065.5_5'Flank|AGER_ENST00000438221.2_5'Flank|AGER_ENST00000375069.3_5'Flank	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2						embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TTCTTTCTTTAAAAAAAAAAA	0.398																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.*683T>-	6.37:g.32153476delA			A2BFJ2	RNA	DEL	-	NULL	ENST00000375050.4	37	NULL	CCDS4748.1	6																																																																																			XXbac-BPG300A18.13	-	-	ENSG00000273333		0.398	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000273333	Clone_based_vega_gene	protein_coding	OTTHUMT00000076194.4		0.00	33	0	A			32153476	-1	tier1		no_errors	ENST00000559458	ensembl	human	known	74_37	rna	56.41	17	22	DEL	0.001	-
LOC100288175	100288175	genome.wustl.edu	37	1	998660	998660	+	lincRNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:998660G>A	ENST00000442292.2	-	0	8				RP11-465B22.3_ENST00000427998.1_RNA																							TCCTGGACACGAGGACTTGGT	0.652																																																	0																																												0																															1.37:g.998660G>A				RNA	SNP	-	NULL	ENST00000442292.2	37	NULL		1																																																																																			RP11-54O7.18	-	-	ENSG00000273443		0.652	RP11-54O7.18-001	KNOWN	basic	lincRNA	ENSG00000273443	Clone_based_vega_gene	lincRNA	OTTHUMT00000472501.1	-	0.00	48	0	G			998660	-1	tier1	-	no_errors	ENST00000442292	ensembl	human	known	74_37	rna	31.91	32	15	SNP	0.000	A
EOMES	8320	genome.wustl.edu	37	3	27761750	27761750	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:27761750G>A	ENST00000295743.4	-	2	1151	c.948C>T	c.(946-948)ttC>ttT	p.F316F	EOMES_ENST00000537516.1_Silent_p.F21F|EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Silent_p.F316F			O95936	EOMES_HUMAN	eomesodermin	316					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F316F(2)|p.F316L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CCACCTCTACGAACACATTGT	0.512																																																	3	Substitution - coding silent(2)|Substitution - Missense(1)	large_intestine(2)|lung(1)											126.0	132.0	130.0					3																	27761750		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.948C>T	3.37:g.27761750G>A			B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.F316	ENST00000295743.4	37	c.948	CCDS2646.1	3																																																																																			EOMES	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000163508		0.512	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	HGNC	protein_coding	OTTHUMT00000252995.1	-	0.00	31	0	G	NM_005442		27761750	-1	tier1	-	no_errors	ENST00000449599	ensembl	human	known	74_37	silent	36.00	16	9	SNP	1.000	A
EP300	2033	genome.wustl.edu	37	22	41574679	41574679	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:41574679delC	ENST00000263253.7	+	31	8183	c.6964delC	c.(6964-6966)cccfs	p.P2323fs	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2323					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACAGTCCCAGCCCCCCCACTC	0.612			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													87.0	91.0	90.0					22																	41574679		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6964delC	22.37:g.41574679delC	ENSP00000263253:p.Pro2323fs		B1AKC2	Frame_Shift_Del	DEL	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.H2324fs	ENST00000263253.7	37	c.6964	CCDS14010.1	22																																																																																			EP300	-	NULL	ENSG00000100393		0.612	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1		0.00	50	0	C	NM_001429		41574679	+1	tier1		no_errors	ENST00000263253	ensembl	human	known	74_37	frame_shift_del	36.00	16	9	DEL	1.000	-
EPG5	57724	genome.wustl.edu	37	18	43532399	43532399	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:43532399G>T	ENST00000282041.5	-	3	1253	c.1219C>A	c.(1219-1221)Ctg>Atg	p.L407M		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	407					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.L407L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GAAGATCTCAGAACAGCTGAA	0.438																																																	1	Substitution - coding silent(1)	lung(1)											111.0	105.0	106.0					18																	43532399		1922	4138	6060	SO:0001583	missense	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.1219C>A	18.37:g.43532399G>T	ENSP00000282041:p.Leu407Met		A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.L407M	ENST00000282041.5	37	c.1219	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	G	8.476	0.858701	0.17178	.	.	ENSG00000152223	ENST00000282041	D	0.81579	-1.51	5.38	4.51	0.55191	.	0.520138	0.21089	N	0.080353	T	0.82250	0.4996	L	0.50333	1.59	0.32731	N	0.508943	D;D	0.53885	0.963;0.963	P;P	0.53809	0.735;0.735	D	0.84177	0.0437	10	0.29301	T	0.29	-9.931	14.3698	0.66830	0.0714:0.0:0.9286:0.0	.	407;407	Q9HCE0-2;Q9HCE0	.;EPG5_HUMAN	M	407	ENSP00000282041:L407M	ENSP00000282041:L407M	L	-	1	2	EPG5	41786397	1.000000	0.71417	0.997000	0.53966	0.167000	0.22549	4.708000	0.61859	1.418000	0.47098	-0.251000	0.11542	CTG	EPG5	-	NULL	ENSG00000152223		0.438	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	-	0.00	40	0	G	NM_020964		43532399	-1	tier1	-	no_errors	ENST00000282041	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.972	T
EPHA10	284656	genome.wustl.edu	37	1	38219906	38219906	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:38219906C>T	ENST00000373048.4	-	4	986	c.987G>A	c.(985-987)ccG>ccA	p.P329P	EPHA10_ENST00000446149.2_Intron|EPHA10_ENST00000427468.2_Silent_p.P329P|EPHA10_ENST00000540011.1_5'Flank|EPHA10_ENST00000330210.7_Intron	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	329					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGCCGAGGGCGGGTCGGTGG	0.692																																																	0													18.0	25.0	23.0					1																	38219906		1961	4091	6052	SO:0001819	synonymous_variant	0			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.987G>A	1.37:g.38219906C>T			A4FU89|J3KPB5|Q6NW42	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.P329	ENST00000373048.4	37	c.987	CCDS41305.1	1																																																																																			EPHA10	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000183317		0.692	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	HGNC	protein_coding	OTTHUMT00000012497.2	-	0.00	176	0	C	NM_173641		38219906	-1	tier1	-	no_errors	ENST00000427468	ensembl	human	known	74_37	silent	41.23	67	47	SNP	0.978	T
EPHA5	2044	genome.wustl.edu	37	4	66535355	66535355	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:66535355G>A	ENST00000273854.3	-	1	706	c.106C>T	c.(106-108)Cga>Tga	p.R36*	EPHA5_ENST00000354839.4_Nonsense_Mutation_p.R36*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.R36*|RP11-807H7.1_ENST00000509473.1_lincRNA|EPHA5_ENST00000511294.1_Nonsense_Mutation_p.R36*	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	36					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGAGCCCGTCGAGGTGCAGAG	0.751										TSP Lung(17;0.13)																																							0													12.0	15.0	14.0					4																	66535355		2184	4289	6473	SO:0001587	stop_gained	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.106C>T	4.37:g.66535355G>A	ENSP00000273854:p.Arg36*		Q7Z3F2	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R36*	ENST00000273854.3	37	c.106	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	G	42	9.232237	0.99108	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	.	.	.	5.51	3.69	0.42338	.	0.330734	0.20130	N	0.098620	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	7.4371	0.27162	0.0891:0.0:0.7454:0.1655	.	.	.	.	X	36	.	ENSP00000273854:R36X	R	-	1	2	EPHA5	66217950	0.918000	0.31147	0.865000	0.33974	0.688000	0.40055	2.512000	0.45485	1.458000	0.47871	0.655000	0.94253	CGA	EPHA5	-	pirsf_Tyr_kinase_ephrin_rcpt	ENSG00000145242		0.751	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	-	0.00	19	0	G	NM_004439		66535355	-1	tier1	-	no_errors	ENST00000273854	ensembl	human	known	74_37	nonsense	50.00	4	4	SNP	0.363	A
EPHB2	2048	genome.wustl.edu	37	1	23239995	23239995	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:23239995delA	ENST00000400191.3	+	16	2911	c.2893delA	c.(2893-2895)aaafs	p.K966fs	EPHB2_ENST00000374630.3_Frame_Shift_Del_p.K966fs|EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374632.3_Frame_Shift_Del_p.K967fs	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	966	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TGGCCACCAGAAAAAAATCCT	0.542																																																	0													89.0	91.0	91.0					1																	23239995		2203	4300	6503	SO:0001589	frameshift_variant	0			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2893delA	1.37:g.23239995delA	ENSP00000383053:p.Lys966fs		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Frame_Shift_Del	DEL	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I967fs	ENST00000400191.3	37	c.2893		1																																																																																			EPHB2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000133216		0.542	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2		0.00	96	0	A	NM_017449		23239995	+1	tier1		no_errors	ENST00000400191	ensembl	human	known	74_37	frame_shift_del	42.86	40	30	DEL	1.000	-
EPN1	29924	genome.wustl.edu	37	19	56203122	56203122	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:56203122G>A	ENST00000270460.6	+	7	1076	c.765G>A	c.(763-765)tcG>tcA	p.S255S	EPN1_ENST00000085079.7_Silent_p.S230S|EPN1_ENST00000411543.2_Silent_p.S341S|AC010525.4_ENST00000585559.1_RNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	255					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCCCACAGTCGTCCCTCATGG	0.692																																																	0													58.0	66.0	63.0					19																	56203122		1998	4146	6144	SO:0001819	synonymous_variant	0			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.765G>A	19.37:g.56203122G>A			Q86ST3|Q9HA18	Silent	SNP	pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.S341	ENST00000270460.6	37	c.1023	CCDS46199.1	19																																																																																			EPN1	-	NULL	ENSG00000063245		0.692	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1	-	0.00	68	0	G	NM_013333		56203122	+1	tier1	-	no_errors	ENST00000411543	ensembl	human	known	74_37	silent	26.23	43	16	SNP	0.027	A
EPN1	29924	genome.wustl.edu	37	19	56203184	56203184	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:56203184delG	ENST00000270460.6	+	7	1138	c.827delG	c.(826-828)tggfs	p.W276fs	EPN1_ENST00000085079.7_Frame_Shift_Del_p.W251fs|EPN1_ENST00000411543.2_Frame_Shift_Del_p.W362fs|AC010525.4_ENST00000585559.1_RNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	276	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.G364fs*164(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		ACAGACCCCTGGGGGGGCCCA	0.692																																																	1	Deletion - Frameshift(1)	large_intestine(1)											42.0	49.0	47.0					19																	56203184		1870	4081	5951	SO:0001589	frameshift_variant	0			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.827delG	19.37:g.56203184delG	ENSP00000270460:p.Trp276fs		Q86ST3|Q9HA18	Frame_Shift_Del	DEL	pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.G364fs	ENST00000270460.6	37	c.1085	CCDS46199.1	19																																																																																			EPN1	-	NULL	ENSG00000063245		0.692	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1		0.00	36	0	G	NM_013333		56203184	+1	tier1		no_errors	ENST00000411543	ensembl	human	known	74_37	frame_shift_del	18.52	22	5	DEL	1.000	-
EPS15L1	58513	genome.wustl.edu	37	19	16472690	16472690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:16472690delT	ENST00000248070.6	-	23	2625	c.2486delA	c.(2485-2487)aagfs	p.K829fs	EPS15L1_ENST00000535753.2_3'UTR|EPS15L1_ENST00000455140.2_Frame_Shift_Del_p.K829fs	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	829	15 X 3 AA repeats of D-P-F.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CCCAAACCCCTTTTTACTTTG	0.567																																																	0													42.0	49.0	46.0					19																	16472690		2203	4300	6503	SO:0001589	frameshift_variant	0			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.2486delA	19.37:g.16472690delT	ENSP00000248070:p.Lys829fs		A2RRF3|A5PL29|B4DKA3	Frame_Shift_Del	DEL	superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.K829fs	ENST00000248070.6	37	c.2486	CCDS32944.1	19																																																																																			EPS15L1	-	NULL	ENSG00000127527		0.567	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	EPS15L1	HGNC	protein_coding	OTTHUMT00000461040.1		0.00	71	0	T	NM_021235		16472690	-1	tier1		no_errors	ENST00000455140	ensembl	human	known	74_37	frame_shift_del	32.47	52	25	DEL	1.000	-
EPS8L1	54869	genome.wustl.edu	37	19	55598783	55598783	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:55598783G>A	ENST00000201647.6	+	19	2121	c.2065G>A	c.(2065-2067)Gtg>Atg	p.V689M	EPS8L1_ENST00000588359.1_Missense_Mutation_p.V375M|EPS8L1_ENST00000540810.1_Missense_Mutation_p.V625M|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000245618.5_Missense_Mutation_p.V562M	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	689					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCAGGTCACCGTGCAGCGCTC	0.677																																					Ovarian(149;255 1863 3636 27051 29647)												0													59.0	61.0	60.0					19																	55598783		2203	4299	6502	SO:0001583	missense	0			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.2065G>A	19.37:g.55598783G>A	ENSP00000201647:p.Val689Met		Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain	p.V689M	ENST00000201647.6	37	c.2065	CCDS12914.1	19	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238737	0.79800	.	.	ENSG00000131037	ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.25414	1.8;1.8;1.8	3.79	3.79	0.43588	.	0.073437	0.52532	D	0.000063	T	0.52757	0.1754	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.87578	0.998;0.907;0.988	T	0.60332	-0.7284	10	0.59425	D	0.04	-25.4363	13.9264	0.63966	0.0:0.0:1.0:0.0	.	468;562;689	Q8TE68-4;Q8TE68-2;Q8TE68	.;.;ES8L1_HUMAN	M	689;625;562;375	ENSP00000201647:V689M;ENSP00000437541:V625M;ENSP00000245618:V562M	ENSP00000201647:V689M	V	+	1	0	EPS8L1	60290595	1.000000	0.71417	0.910000	0.35882	0.600000	0.36913	5.846000	0.69444	2.060000	0.61445	0.313000	0.20887	GTG	EPS8L1	-	superfamily_SAM/pointed	ENSG00000131037		0.677	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8L1	HGNC	protein_coding	OTTHUMT00000451713.1	-	0.00	32	0	G	NM_017729		55598783	+1	tier1	-	no_errors	ENST00000201647	ensembl	human	known	74_37	missense	36.84	12	7	SNP	0.998	A
EPS8L3	79574	genome.wustl.edu	37	1	110300959	110300959	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:110300959G>T	ENST00000361965.4	-	8	802	c.696C>A	c.(694-696)ccC>ccA	p.P232P	EPS8L3_ENST00000361852.4_Silent_p.P232P|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Silent_p.P233P|EPS8L3_ENST00000494151.1_5'Flank	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	232	Pro-rich.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTGGGTCCTCGGGGGAAGAGG	0.607																																																	0													157.0	166.0	163.0					1																	110300959		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.696C>A	1.37:g.110300959G>T			A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Silent	SNP	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain	p.P233	ENST00000361965.4	37	c.699	CCDS814.1	1																																																																																			EPS8L3	-	NULL	ENSG00000198758		0.607	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EPS8L3	HGNC	protein_coding	OTTHUMT00000032234.1		0.00	76	0	G	NM_024526		110300959	-1			no_errors	ENST00000369805	ensembl	human	known	74_37	silent	5.36	53	3	SNP	0.000	T
ERAL1	26284	genome.wustl.edu	37	17	27185670	27185670	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:27185670A>C	ENST00000254928.5	+	7	885	c.788A>C	c.(787-789)aAg>aCg	p.K263T	MIR144_ENST00000384886.1_lincRNA|MIR144_ENST00000385059.1_lincRNA	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	263	Era-type G.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			AATGGCAAAAAGCTCAAGATG	0.547																																																	0													101.0	100.0	101.0					17																	27185670		2203	4300	6503	SO:0001583	missense	0			AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.788A>C	17.37:g.27185670A>C	ENSP00000254928:p.Lys263Thr		B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_KH_prok-type,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.K263T	ENST00000254928.5	37	c.788	CCDS11244.1	17	.	.	.	.	.	.	.	.	.	.	A	10.94	1.491821	0.26774	.	.	ENSG00000132591	ENST00000254928;ENST00000412138	.	.	.	6.08	3.72	0.42706	.	0.270136	0.46758	D	0.000265	T	0.57301	0.2044	M	0.76574	2.34	0.58432	D	0.999998	B	0.27380	0.177	B	0.15484	0.013	T	0.58651	-0.7599	9	0.54805	T	0.06	-14.979	8.4842	0.33061	0.7354:0.1352:0.0:0.1294	.	263	O75616	ERAL1_HUMAN	T	263;203	.	ENSP00000254928:K263T	K	+	2	0	ERAL1	24209796	0.973000	0.33851	0.993000	0.49108	0.380000	0.30137	2.279000	0.43435	1.086000	0.41228	0.533000	0.62120	AAG	ERAL1	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase	ENSG00000132591		0.547	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAL1	HGNC	protein_coding	OTTHUMT00000255937.2	-	0.00	38	0	A			27185670	+1	tier1	-	no_errors	ENST00000254928	ensembl	human	known	74_37	missense	51.43	17	18	SNP	0.939	C
ERBB2	2064	genome.wustl.edu	37	17	37866417	37866417	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:37866417C>T	ENST00000269571.5	+	6	881	c.722C>T	c.(721-723)gCt>gTt	p.A241V	ERBB2_ENST00000578199.1_Missense_Mutation_p.A211V|ERBB2_ENST00000584450.1_Missense_Mutation_p.A241V|ERBB2_ENST00000584601.1_Missense_Mutation_p.A211V|ERBB2_ENST00000406381.2_Missense_Mutation_p.A211V|ERBB2_ENST00000540042.1_Missense_Mutation_p.A211V|ERBB2_ENST00000541774.1_Missense_Mutation_p.A226V|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540147.1_Missense_Mutation_p.A211V			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	241					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GAGCAGTGTGCTGCCGGCTGC	0.647		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0													59.0	62.0	61.0					17																	37866417		2203	4300	6503	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.722C>T	17.37:g.37866417C>T	ENSP00000269571:p.Ala241Val		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A241V	ENST00000269571.5	37	c.722	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287165	0.59867	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000269571;ENST00000540147;ENST00000540042	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	5.62	4.62	0.57501	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	D	0.92545	0.7632	M	0.83774	2.66	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.91635	0.973;0.973;0.999;0.92	D	0.93579	0.6911	9	0.87932	D	0	.	15.2192	0.73296	0.0:0.8583:0.1417:0.0	.	211;226;241;241	F5H1T4;P04626-4;P04626;Q9UK79	.;.;ERBB2_HUMAN;.	V	211;226;241;211;211	ENSP00000385185:A211V;ENSP00000446466:A226V;ENSP00000269571:A241V;ENSP00000443562:A211V;ENSP00000446382:A211V	ENSP00000269571:A241V	A	+	2	0	ERBB2	35119943	1.000000	0.71417	0.880000	0.34516	0.979000	0.70002	7.509000	0.81698	1.315000	0.45114	0.467000	0.42956	GCT	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat	ENSG00000141736		0.647	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	-	0.00	28	0	C			37866417	+1	tier1	-	no_errors	ENST00000269571	ensembl	human	known	74_37	missense	38.46	16	10	SNP	0.999	T
ERBB2	2064	genome.wustl.edu	37	17	37881000	37881000	+	Missense_Mutation	SNP	G	G	T	rs121913471		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:37881000G>T	ENST00000269571.5	+	20	2488	c.2329G>T	c.(2329-2331)Gtg>Ttg	p.V777L	ERBB2_ENST00000584450.1_Missense_Mutation_p.V777L|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.V747L|ERBB2_ENST00000406381.2_Missense_Mutation_p.V747L|ERBB2_ENST00000541774.1_Missense_Mutation_p.V762L|ERBB2_ENST00000445658.2_Missense_Mutation_p.V501L|ERBB2_ENST00000540147.1_Missense_Mutation_p.V747L			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	777	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.V777L(6)|p.V777M(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GATGGCTGGTGTGGGCTCCCC	0.577		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	7	Substitution - Missense(7)	large_intestine(3)|stomach(2)|lung(1)|breast(1)											91.0	90.0	90.0					17																	37881000		2203	4300	6503	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2329G>T	17.37:g.37881000G>T	ENSP00000269571:p.Val777Leu		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V777L	ENST00000269571.5	37	c.2329	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186331	0.57909	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.56611	0.45;0.45;0.45;0.45;0.45	5.3	5.3	0.74995	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.19485	0.0468	N	0.00165	-1.945	0.80722	D	1	B;B;B	0.13594	0.003;0.001;0.008	B;B;B	0.15484	0.013;0.002;0.013	T	0.30475	-0.9977	9	0.18710	T	0.47	.	18.5686	0.91126	0.0:0.0:1.0:0.0	.	501;762;777	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	L	747;762;501;777;747	ENSP00000385185:V747L;ENSP00000446466:V762L;ENSP00000404047:V501L;ENSP00000269571:V777L;ENSP00000443562:V747L	ENSP00000269571:V777L	V	+	1	0	ERBB2	35134526	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.847000	0.99503	2.478000	0.83669	0.563000	0.77884	GTG	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000141736		0.577	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	-	0.00	99	0	G			37881000	+1	tier1	rs121913471	no_errors	ENST00000269571	ensembl	human	known	74_37	missense	30.30	46	20	SNP	1.000	T
ERBB3	2065	genome.wustl.edu	37	12	56495024	56495024	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:56495024C>T	ENST00000267101.3	+	27	3821	c.3381C>T	c.(3379-3381)cgC>cgT	p.R1127R	ERBB3_ENST00000450146.2_Silent_p.R484R|ERBB3_ENST00000549832.1_Silent_p.R247R|RP11-603J24.9_ENST00000548861.1_5'Flank|ERBB3_ENST00000553131.1_Silent_p.R368R|ERBB3_ENST00000415288.2_Silent_p.R1068R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1127			R -> H (in dbSNP:rs2271188). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CACGGCCACGCGGAGATAGCG	0.592																																																	0													62.0	59.0	60.0					12																	56495024		2203	4300	6503	SO:0001819	synonymous_variant	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.3381C>T	12.37:g.56495024C>T			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R1127	ENST00000267101.3	37	c.3381	CCDS31833.1	12																																																																																			ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000065361		0.592	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	-	0.00	16	0	C			56495024	+1	tier1	-	no_errors	ENST00000267101	ensembl	human	known	74_37	silent	50.00	10	10	SNP	0.134	T
ERBB4	2066	genome.wustl.edu	37	2	212989493	212989493	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:212989493T>C	ENST00000342788.4	-	2	528	c.218A>G	c.(217-219)gAc>gGc	p.D73G	ERBB4_ENST00000436443.1_Missense_Mutation_p.D73G|ERBB4_ENST00000402597.1_Missense_Mutation_p.D73G	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	73					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GAAGGAGAGGTCCCGGTTGTG	0.512										TSP Lung(8;0.080)																																							0													140.0	122.0	128.0					2																	212989493		2203	4300	6503	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.218A>G	2.37:g.212989493T>C	ENSP00000342235:p.Asp73Gly		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D73G	ENST00000342788.4	37	c.218	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.8|24.8	4.569396|4.569396	0.86439|0.86439	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597;ENST00000435846|ENST00000260943	T;T;T;T|.	0.80566|.	-1.39;-1.39;-1.39;-1.39|.	5.43|5.43	5.43|5.43	0.79202|0.79202	EGF receptor, L domain (1);|.	0.115357|.	0.64402|.	D|.	0.000008|.	T|T	0.72558|0.72558	0.3475|0.3475	M|M	0.66560|0.66560	2.04|2.04	0.50313|0.50313	D|D	0.999869|0.999869	B;D;B;B|.	0.56035|.	0.169;0.974;0.169;0.203|.	B;P;B;B|.	0.60236|.	0.101;0.871;0.101;0.163|.	T|T	0.72312|0.72312	-0.4331|-0.4331	10|5	0.72032|.	D|.	0.01|.	.|.	15.4814|15.4814	0.75530|0.75530	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	73;73;73;73|.	Q15303-4;Q15303-2;Q15303-3;Q15303|.	.;.;.;ERBB4_HUMAN|.	G|A	73;73;73;14|73	ENSP00000342235:D73G;ENSP00000403204:D73G;ENSP00000385565:D73G;ENSP00000405564:D14G|.	ENSP00000342235:D73G|.	D|T	-|-	2|1	0|0	ERBB4|ERBB4	212697738|212697738	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.990000|7.990000	0.88215|0.88215	2.061000|2.061000	0.61500|0.61500	0.533000|0.533000	0.62120|0.62120	GAC|ACC	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	ENSG00000178568		0.512	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0.00	43	0	T	NM_001042599		212989493	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	55.56	16	20	SNP	1.000	C
ERC2	26059	genome.wustl.edu	37	3	55544295	55544298	+	3'UTR	DEL	AAAA	AAAA	-	rs398051973|rs375390004|rs34830121	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:55544295_55544298delAAAA	ENST00000288221.6	-	0	4175_4178				ERC2_ENST00000486496.1_5'UTR	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2							cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CATTTTCTTTAAAAAAAAAAAAAA	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.*1049TTTT>-	3.37:g.55544303_55544306delAAAA			Q2T9F6|Q86TK4	RNA	DEL	-	NULL	ENST00000288221.6	37	NULL	CCDS46851.1	3																																																																																			ERC2	-	-	ENSG00000187672		0.338	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2		0.00	26	0	AAAA	NM_015576		55544298	-1	tier1		no_errors	ENST00000484530	ensembl	human	known	74_37	rna	41.18	10	7	DEL	0.000:0.000:0.000:0.000	-
ERC2	26059	genome.wustl.edu	37	3	56330173	56330173	+	Silent	SNP	G	G	T	rs375743908		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:56330173G>T	ENST00000288221.6	-	3	1203	c.948C>A	c.(946-948)ggC>ggA	p.G316G		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	316						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGGATGGCAAGCCTTTACTTT	0.458																																																	0													245.0	241.0	242.0					3																	56330173		1890	4106	5996	SO:0001819	synonymous_variant	0			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.948C>A	3.37:g.56330173G>T			Q2T9F6|Q86TK4	Silent	SNP	pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin	p.G316	ENST00000288221.6	37	c.948	CCDS46851.1	3																																																																																			ERC2	-	pfam_CAZ_cplx_RIM-bd_prot	ENSG00000187672		0.458	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	HGNC	protein_coding	OTTHUMT00000350884.2	-	0.00	99	0	G	NM_015576		56330173	-1	tier1	-	no_errors	ENST00000288221	ensembl	human	known	74_37	silent	6.67	84	6	SNP	0.240	T
ERCC6	2074	genome.wustl.edu	37	10	50684358	50684358	+	Splice_Site	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:50684358T>C	ENST00000355832.5	-	12	2365		c.e12-2		ERCC6_ENST00000542458.1_Splice_Site	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6						activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAATAAGACCTACGGACGGGA	0.338								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													47.0	47.0	47.0					10																	50684358		2203	4300	6503	SO:0001630	splice_region_variant	0			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2287-2A>G	10.37:g.50684358T>C			D3DX94|Q5W0L9	Splice_Site	SNP	-	e11-2	ENST00000355832.5	37	c.2287-2	CCDS7229.1	10	.	.	.	.	.	.	.	.	.	.	T	15.25	2.778044	0.49786	.	.	ENSG00000225830	ENST00000355832;ENST00000539110;ENST00000542458	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4446	0.75220	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERCC6	50354364	1.000000	0.71417	0.595000	0.28798	0.387000	0.30353	7.841000	0.86834	2.060000	0.61445	0.455000	0.32223	.	ERCC6	-	-	ENSG00000225830		0.338	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC6	HGNC	protein_coding	OTTHUMT00000047990.1	-	0.00	34	0	T	NM_000124	Intron	50684358	-1	tier1	-	no_errors	ENST00000355832	ensembl	human	known	74_37	splice_site	47.37	19	18	SNP	0.993	C
ERCC8	1161	genome.wustl.edu	37	5	60187968	60187968	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:60187968delT	ENST00000265038.5	-	10	886				ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000426742.2_Intron|ERCC8_ENST00000543101.1_Intron	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				CACCTTACTGTTTTTTTTTAG	0.502																																																	0																																										SO:0001627	intron_variant	0			U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.844-1055A>-	5.37:g.60187968delT			B2RB64|Q6FHX5|Q96GB9	RNA	DEL	-	NULL	ENST00000265038.5	37	NULL	CCDS3978.1	5																																																																																			ERCC8	-	-	ENSG00000049167		0.502	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC8	HGNC	protein_coding	OTTHUMT00000214971.2		0.00	60	0	T	NM_000082		60187968	-1	tier1		no_errors	ENST00000462279	ensembl	human	known	74_37	rna	16.22	31	6	DEL	0.000	-
ERF	2077	genome.wustl.edu	37	19	42753368	42753368	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:42753368delC	ENST00000222329.4	-	4	1053	c.896delG	c.(895-897)ggafs	p.G300fs	ERF_ENST00000440177.2_Frame_Shift_Del_p.G225fs|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	300					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTGGGAGCCTCCCCCTGAGCC	0.677																																																	0													36.0	40.0	39.0					19																	42753368		2201	4297	6498	SO:0001589	frameshift_variant	0			U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.896delG	19.37:g.42753368delC	ENSP00000222329:p.Gly300fs		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Del	DEL	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.G299fs	ENST00000222329.4	37	c.896	CCDS12600.1	19																																																																																			ERF	-	NULL	ENSG00000105722		0.677	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERF	HGNC	protein_coding	OTTHUMT00000463684.1		0.00	52	0	C	NM_006494		42753368	-1	tier1		no_errors	ENST00000222329	ensembl	human	known	74_37	frame_shift_del	44.12	19	15	DEL	0.941	-
ERG	2078	genome.wustl.edu	37	21	39947607	39947607	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:39947607C>T	ENST00000417133.2	-	3	203	c.18G>A	c.(16-18)ccG>ccA	p.P6P	ERG_ENST00000398919.2_Silent_p.P6P|ERG_ENST00000442448.1_Silent_p.P6P|ERG_ENST00000398910.1_Silent_p.P6P|ERG_ENST00000398911.1_Silent_p.P6P|ERG_ENST00000398897.1_5'UTR|ERG_ENST00000485493.1_5'UTR	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CTGCTGGGTCCGGGACAGTCT	0.488			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)			Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"""M, E, L"""	0													108.0	89.0	95.0					21																	39947607		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.18G>A	21.37:g.39947607C>T			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.P6	ENST00000417133.2	37	c.18	CCDS46648.1	21																																																																																			ERG	-	NULL	ENSG00000157554		0.488	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERG	HGNC	protein_coding	OTTHUMT00000207532.2	-	0.00	43	0	C	NM_182918		39947607	-1	tier1	-	no_errors	ENST00000398919	ensembl	human	known	74_37	silent	27.91	31	12	SNP	0.470	T
ERO1LB	56605	genome.wustl.edu	37	1	236415381	236415381	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:236415381G>A	ENST00000354619.5	-	4	518	c.317C>T	c.(316-318)cCg>cTg	p.P106L	ERO1LB_ENST00000327333.8_Missense_Mutation_p.P106L	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	106					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TATTCCAACCGGAATTTTACT	0.318																																																	0													81.0	84.0	83.0					1																	236415381		2203	4300	6503	SO:0001583	missense	0			AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.317C>T	1.37:g.236415381G>A	ENSP00000346635:p.Pro106Leu		B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Missense_Mutation	SNP	pfam_Ero1,pirsf_Ero1	p.P106L	ENST00000354619.5	37	c.317	CCDS31064.1	1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837515	0.91117	.	.	ENSG00000086619	ENST00000354619;ENST00000327333	D;T	0.97161	-4.27;-0.56	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.98963	0.9647	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	D	0.99497	1.0952	10	0.87932	D	0	-13.8586	18.7695	0.91885	0.0:0.0:1.0:0.0	.	106;106	B4DF57;Q86YB8	.;ERO1B_HUMAN	L	106	ENSP00000346635:P106L;ENSP00000377574:P106L	ENSP00000377574:P106L	P	-	2	0	ERO1LB	234482004	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	8.147000	0.89628	2.729000	0.93468	0.655000	0.94253	CCG	ERO1LB	-	pfam_Ero1,pirsf_Ero1	ENSG00000086619		0.318	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERO1LB	HGNC	protein_coding	OTTHUMT00000096371.1	-	0.00	25	0	G	NM_019891		236415381	-1	tier1	-	no_errors	ENST00000354619	ensembl	human	known	74_37	missense	43.75	18	14	SNP	1.000	A
ERP29	10961	genome.wustl.edu	37	12	112457621	112457623	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AGC	AGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:112457621_112457623delAGC	ENST00000261735.3	+	2	356_358	c.206_208delAGC	c.(205-210)aagcag>aag	p.Q70del	ERP29_ENST00000455836.1_Intron|ERP29_ENST00000546477.1_5'UTR	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	70					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)|protein secretion (GO:0009306)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						TACGGTGAGAAGCAGGATGAGTT	0.547																																																	0																																										SO:0001651	inframe_deletion	0			X94910	CCDS9158.1, CCDS44977.1	12q24.13	2011-10-19	2005-10-05	2005-10-05		ENSG00000089248		"""Protein disulfide isomerases"""	13799	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 9"""	602287	"""chromosome 12 open reading frame 8"""	C12orf8		9738895, 9037184	Standard	NM_006817		Approved	ERp28, ERp31, ERp29, PDI-DB, PDIA9	uc001ttk.1	P30040	OTTHUMG00000169637	ENST00000261735.3:c.206_208delAGC	12.37:g.112457621_112457623delAGC	ENSP00000261735:p.Gln70del		C9J183|Q3MJC3|Q6FHT4	In_Frame_Del	DEL	pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29	p.Q70in_frame_del	ENST00000261735.3	37	c.206_208	CCDS9158.1	12																																																																																			ERP29	-	pfam_ERp29_N,superfamily_Thioredoxin-like_fold,pirsf_ER_p29	ENSG00000089248		0.547	ERP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP29	HGNC	protein_coding	OTTHUMT00000405200.1		0.00	64	0	AGC			112457623	+1	tier1		no_errors	ENST00000261735	ensembl	human	known	74_37	in_frame_del	44.62	36	29	DEL	1.000:1.000:1.000	-
ESRP1	54845	genome.wustl.edu	37	8	95686611	95686611	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:95686611delA	ENST00000433389.2	+	12	1718	c.1528delA	c.(1528-1530)aaafs	p.K511fs	ESRP1_ENST00000454170.2_Frame_Shift_Del_p.K511fs|ESRP1_ENST00000358397.5_Frame_Shift_Del_p.K511fs|ESRP1_ENST00000423620.2_Frame_Shift_Del_p.K511fs	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	511	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)	p.N512fs*8(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GAAGTGTCATAAAAAAAACAT	0.438																																																	2	Insertion - Frameshift(2)	large_intestine(2)											86.0	88.0	87.0					8																	95686611		1883	4113	5996	SO:0001589	frameshift_variant	0			AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1528delA	8.37:g.95686611delA	ENSP00000405738:p.Lys511fs		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Frame_Shift_Del	DEL	superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom	p.N512fs	ENST00000433389.2	37	c.1528	CCDS47897.1	8																																																																																			ESRP1	-	smart_RRM_dom	ENSG00000104413		0.438	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ESRP1	HGNC	protein_coding	OTTHUMT00000379326.1		0.00	98	0	A	NM_017697		95686611	+1	tier1		no_errors	ENST00000433389	ensembl	human	known	74_37	frame_shift_del	20.79	80	21	DEL	1.000	-
ETAA1	54465	genome.wustl.edu	37	2	67626314	67626314	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:67626314A>G	ENST00000272342.5	+	2	367	c.237A>G	c.(235-237)acA>acG	p.T79T		NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	79						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GGTATGAAACACCAAAGAGAG	0.363																																																	0													61.0	59.0	60.0					2																	67626314		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.237A>G	2.37:g.67626314A>G			Q05BT7|Q53SC4	Silent	SNP	NULL	p.T79	ENST00000272342.5	37	c.237	CCDS1882.1	2																																																																																			ETAA1	-	NULL	ENSG00000143971		0.363	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	-	0.00	58	0	A	NM_019002		67626314	+1	tier1	-	no_errors	ENST00000272342	ensembl	human	known	74_37	silent	44.64	31	25	SNP	0.896	G
ETV3	2117	genome.wustl.edu	37	1	157094756	157094756	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:157094756delG	ENST00000368192.4	-	5	1480	c.1416delC	c.(1414-1416)cccfs	p.P472fs		NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	472					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				ACCGAAGCTTGGGGGGCATCA	0.572																																																	0													54.0	50.0	51.0					1																	157094756		692	1591	2283	SO:0001589	frameshift_variant	0			BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.1416delC	1.37:g.157094756delG	ENSP00000357175:p.Pro472fs		B4E3M7|Q8TAC8|Q9BX30	Frame_Shift_Del	DEL	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.K473fs	ENST00000368192.4	37	c.1416	CCDS44250.1	1																																																																																			ETV3	-	NULL	ENSG00000117036		0.572	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3	HGNC	protein_coding	OTTHUMT00000082843.2		0.00	41	0	G	NM_005240		157094756	-1	tier1		no_errors	ENST00000368192	ensembl	human	known	74_37	frame_shift_del	23.21	43	13	DEL	0.991	-
EVC2	132884	genome.wustl.edu	37	4	5617231	5617231	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:5617231C>T	ENST00000344408.5	-	16	2800	c.2747G>A	c.(2746-2748)aGc>aAc	p.S916N	EVC2_ENST00000344938.1_Missense_Mutation_p.S916N|EVC2_ENST00000310917.2_Missense_Mutation_p.S836N	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	916					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTCTCCCTTGCTTTTACTCTT	0.502																																																	0													226.0	205.0	213.0					4																	5617231		2203	4300	6503	SO:0001583	missense	0			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2747G>A	4.37:g.5617231C>T	ENSP00000342144:p.Ser916Asn		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.S916N	ENST00000344408.5	37	c.2747	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	C	6.790	0.514741	0.12944	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.74526	-0.85;-0.84;-0.84	5.22	3.5	0.40072	.	0.842794	0.10705	N	0.643585	T	0.52613	0.1745	N	0.11560	0.145	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.34950	-0.9808	10	0.15066	T	0.55	-5.5736	8.081	0.30744	0.0:0.8128:0.0:0.1872	.	916	Q86UK5	LBN_HUMAN	N	916;836;916	ENSP00000339954:S916N;ENSP00000311683:S836N;ENSP00000342144:S916N	ENSP00000311683:S836N	S	-	2	0	EVC2	5668132	0.957000	0.32711	0.187000	0.23214	0.623000	0.37688	0.373000	0.20484	0.606000	0.29965	-0.362000	0.07510	AGC	EVC2	-	NULL	ENSG00000173040		0.502	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	-	0.00	77	0	C	NM_147127		5617231	-1	tier1	-	no_errors	ENST00000344408	ensembl	human	known	74_37	missense	28.09	64	25	SNP	0.485	T
EXOC4	60412	genome.wustl.edu	37	7	133059721	133059721	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:133059721G>T	ENST00000253861.4	+	7	1176	c.1147G>T	c.(1147-1149)Gca>Tca	p.A383S	EXOC4_ENST00000393161.2_Missense_Mutation_p.A383S|EXOC4_ENST00000539845.1_Missense_Mutation_p.A282S	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	383					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTATGATATGGCAGATGTATG	0.438																																																	0													114.0	103.0	107.0					7																	133059721		2203	4300	6503	SO:0001583	missense	0			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1147G>T	7.37:g.133059721G>T	ENSP00000253861:p.Ala383Ser		E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	pfam_Sec8_exocyst	p.A383S	ENST00000253861.4	37	c.1147	CCDS5829.1	7	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474538	0.43942	.	.	ENSG00000131558	ENST00000253861;ENST00000393161;ENST00000546185;ENST00000539845	.	.	.	6.03	6.03	0.97812	.	0.051710	0.85682	D	0.000000	T	0.52645	0.1747	L	0.44542	1.39	0.80722	D	1	B;B	0.27559	0.181;0.009	B;B	0.26969	0.075;0.006	T	0.46871	-0.9160	9	0.09590	T	0.72	.	15.6349	0.76944	0.0:0.1368:0.8632:0.0	.	383;383	Q96A65;Q8TAR2	EXOC4_HUMAN;.	S	383;383;2;282	.	ENSP00000253861:A383S	A	+	1	0	EXOC4	132710261	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.187000	0.77730	2.868000	0.98415	0.557000	0.71058	GCA	EXOC4	-	NULL	ENSG00000131558		0.438	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	-	0.00	48	0	G	NM_021807		133059721	+1	tier1	-	no_errors	ENST00000253861	ensembl	human	known	74_37	missense	29.79	33	14	SNP	1.000	T
EXOSC10	5394	genome.wustl.edu	37	1	11136981	11136981	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:11136981G>A	ENST00000376936.4	-	17	1953	c.1904C>T	c.(1903-1905)gCg>gTg	p.A635V	EXOSC10_ENST00000304457.7_Missense_Mutation_p.A635V|EXOSC10_ENST00000544779.1_3'UTR	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	635					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GAAGAGGCTCGCCTGCTTCTG	0.413																																					Colon(179;105 1987 14326 27364 29542)												0													83.0	84.0	84.0					1																	11136981		2203	4300	6503	SO:0001583	missense	0			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1904C>T	1.37:g.11136981G>A	ENSP00000366135:p.Ala635Val		B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom	p.A635V	ENST00000376936.4	37	c.1904	CCDS30584.1	1	.	.	.	.	.	.	.	.	.	.	G	5.825	0.336423	0.11013	.	.	ENSG00000171824	ENST00000376936;ENST00000304457	.	.	.	5.04	3.13	0.36017	.	0.562321	0.20279	N	0.095483	T	0.26846	0.0657	L	0.29908	0.895	0.09310	N	0.999997	B;B	0.19073	0.033;0.033	B;B	0.15484	0.013;0.009	T	0.15263	-1.0443	9	0.28530	T	0.3	-3.6558	6.5602	0.22481	0.0934:0.0:0.7202:0.1863	.	635;635	Q01780-2;Q01780	.;EXOSX_HUMAN	V	635	.	ENSP00000307307:A635V	A	-	2	0	EXOSC10	11059568	0.001000	0.12720	0.033000	0.17914	0.010000	0.07245	0.871000	0.28023	0.597000	0.29811	-0.291000	0.09656	GCG	EXOSC10	-	NULL	ENSG00000171824		0.413	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOSC10	HGNC	protein_coding	OTTHUMT00000006078.1	-	0.00	25	0	G	NM_001001998		11136981	-1	tier1	-	no_errors	ENST00000376936	ensembl	human	known	74_37	missense	44.74	21	17	SNP	0.056	A
F2R	2149	genome.wustl.edu	37	5	76028423	76028423	+	Missense_Mutation	SNP	G	G	A	rs546007149		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:76028423G>A	ENST00000319211.4	+	2	638	c.373G>A	c.(373-375)Gtt>Att	p.V125I		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	125					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CATGGCCATCGTTGTGTTCAT	0.522																																																	0													124.0	125.0	125.0					5																	76028423		2203	4300	6503	SO:0001583	missense	0			M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.373G>A	5.37:g.76028423G>A	ENSP00000321326:p.Val125Ile		Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt	p.V125I	ENST00000319211.4	37	c.373	CCDS4032.1	5	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.624857	0.00820	.	.	ENSG00000181104	ENST00000319211	T	0.36878	1.23	4.89	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.650953	0.14896	N	0.292094	T	0.16128	0.0388	N	0.25332	0.735	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.30297	-0.9983	10	0.02654	T	1	-4.2923	1.8775	0.03221	0.2889:0.3116:0.2888:0.1107	.	125	P25116	PAR1_HUMAN	I	125	ENSP00000321326:V125I	ENSP00000321326:V125I	V	+	1	0	F2R	76064179	0.000000	0.05858	0.006000	0.13384	0.455000	0.32408	-0.398000	0.07259	0.071000	0.16664	-0.254000	0.11334	GTT	F2R	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181104		0.522	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2R	HGNC	protein_coding	OTTHUMT00000254068.2	-	0.00	94	0	G			76028423	+1	tier1	-	no_errors	ENST00000319211	ensembl	human	known	74_37	missense	41.58	59	42	SNP	0.000	A
F8	2157	genome.wustl.edu	37	X	154194908	154194908	+	Missense_Mutation	SNP	C	C	T	rs146581224	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:154194908C>T	ENST00000360256.4	-	8	1264	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	F8_ENST00000483822.1_5'Flank	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	355					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATTTTTCATTCGTAGTTGGGG	0.403																																																	0								C	GLN/ARG	1,3834		0,1,0,1631,571	152.0	122.0	132.0		1064	1.7	0.0	X	dbSNP_134	132	4,6724		0,3,1,2425,1871	yes	missense	F8	NM_000132.3	43	0,4,1,4056,2442	TT,TC,T,CC,C		0.0595,0.0261,0.0473	benign	355/2352	154194908	5,10558	2203	4300	6503	SO:0001583	missense	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1064G>A	X.37:g.154194908C>T	ENSP00000353393:p.Arg355Gln		Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R355Q	ENST00000360256.4	37	c.1064	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	C	5.762	0.324991	0.10900	2.61E-4	5.95E-4	ENSG00000185010	ENST00000360256	D	0.98717	-5.09	5.13	1.73	0.24493	.	0.421653	0.23650	N	0.045931	D	0.94420	0.8205	N	0.25890	0.77	0.09310	N	1	B	0.18166	0.026	B	0.06405	0.002	D	0.86482	0.1792	10	0.15952	T	0.53	-1.5205	6.9212	0.24389	0.0:0.4482:0.0:0.5518	.	355	P00451	FA8_HUMAN	Q	355	ENSP00000353393:R355Q	ENSP00000353393:R355Q	R	-	2	0	F8	153848102	0.385000	0.25172	0.000000	0.03702	0.491000	0.33493	1.073000	0.30691	0.279000	0.22186	-0.344000	0.07964	CGA	F8	-	NULL	ENSG00000185010		0.403	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	-	0.00	35	0	C			154194908	-1	tier1	rs146581224	no_errors	ENST00000360256	ensembl	human	known	74_37	missense	79.41	7	27	SNP	0.001	T
FADS2	9415	genome.wustl.edu	37	11	61615632	61615632	+	Splice_Site	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:61615632G>T	ENST00000278840.4	+	5	1250	c.620G>T	c.(619-621)gGt>gTt	p.G207V	FADS2_ENST00000522056.1_Splice_Site_p.G176V|FADS2_ENST00000521849.1_Splice_Site_p.G207V|FADS2_ENST00000257261.6_Splice_Site_p.G185V	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	207					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TCCCCACAGGGTGCCTCTGCC	0.567																																																	0													117.0	92.0	101.0					11																	61615632		2202	4299	6501	SO:0001630	splice_region_variant	0			AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.619-1G>T	11.37:g.61615632G>T			A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd	p.G207V	ENST00000278840.4	37	c.620	CCDS8012.1	11	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971719	0.74246	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000518606;ENST00000278840;ENST00000517312;ENST00000521849	T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34	4.37	2.39	0.29439	Fatty acid desaturase, type 1 (1);	0.221905	0.30011	N	0.010634	T	0.41166	0.1147	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.996;0.999	D;D;D;D	0.79108	0.992;0.964;0.981;0.945	T	0.28808	-1.0032	10	0.72032	D	0.01	-7.0967	10.1682	0.42893	0.0:0.1491:0.6962:0.1548	.	176;207;207;185	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	V	185;176;85;207;85;207	ENSP00000257261:G185V;ENSP00000429500:G176V;ENSP00000430054:G85V;ENSP00000278840:G207V;ENSP00000430225:G85V;ENSP00000431091:G207V	ENSP00000257261:G185V	G	+	2	0	FADS2	61372208	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	8.624000	0.90961	0.408000	0.25621	0.557000	0.71058	GGT	FADS2	-	pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase	ENSG00000134824		0.567	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS2	HGNC	protein_coding	OTTHUMT00000375586.2	-	0.00	69	0	G	NM_004265	Missense_Mutation	61615632	+1	tier1	-	no_errors	ENST00000278840	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T
FAHD2A	51011	genome.wustl.edu	37	2	96078465	96078466	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:96078465_96078466insC	ENST00000233379.4	+	7	988_989	c.835_836insC	c.(835-837)accfs	p.T279fs	FAHD2A_ENST00000447036.1_Frame_Shift_Ins_p.T279fs	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	279							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CCTAACTGGGACCCCCCCAGGT	0.559																																																	0																																										SO:0001589	frameshift_variant	0			AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.842dupC	2.37:g.96078472_96078472dupC	ENSP00000233379:p.Thr279fs		Q9Y3B0	Frame_Shift_Ins	INS	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.G282fs	ENST00000233379.4	37	c.835_836	CCDS2014.1	2																																																																																			FAHD2A	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	ENSG00000115042		0.559	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAHD2A	HGNC	protein_coding	OTTHUMT00000252778.1		0.00	67	0	-	NM_016044		96078466	+1	tier1		no_errors	ENST00000233379	ensembl	human	known	74_37	frame_shift_ins	33.33	36	18	INS	1.000:0.997	C
FAHD2B	151313	genome.wustl.edu	37	2	97749725	97749725	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:97749725delG	ENST00000414820.1	-	8	1112	c.842delC	c.(841-843)ccafs	p.P281fs	FAHD2B_ENST00000272610.3_Frame_Shift_Del_p.P281fs|FAHD2B_ENST00000440566.2_Frame_Shift_Del_p.P281fs|FAHD2B_ENST00000468548.1_5'Flank			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	281							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						ACCGACACCTGGGGGGGTCCC	0.552																																																	0													29.0	31.0	30.0					2																	97749725		2203	4297	6500	SO:0001589	frameshift_variant	0				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.842delC	2.37:g.97749725delG	ENSP00000410470:p.Pro281fs		D3DXH7|Q8NDK1	Frame_Shift_Del	DEL	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.P281fs	ENST00000414820.1	37	c.842	CCDS2030.1	2																																																																																			FAHD2B	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	ENSG00000144199		0.552	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAHD2B	HGNC	protein_coding	OTTHUMT00000339482.1		0.00	80	0	G	NM_199336		97749725	-1	tier1		no_errors	ENST00000272610	ensembl	human	known	74_37	frame_shift_del	29.27	58	24	DEL	1.000	-
FAHD2B	151313	genome.wustl.edu	37	2	97756048	97756048	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:97756048T>C	ENST00000414820.1	-	4	530	c.260A>G	c.(259-261)cAg>cGg	p.Q87R	FAHD2B_ENST00000272610.3_Missense_Mutation_p.Q87R|FAHD2B_ENST00000440566.2_Missense_Mutation_p.Q87R|FAHD2B_ENST00000468548.1_5'UTR			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	87							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						GACTGGCAACTGGGCAGCCAA	0.582																																																	0													59.0	48.0	52.0					2																	97756048		2201	4298	6499	SO:0001583	missense	0				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.260A>G	2.37:g.97756048T>C	ENSP00000410470:p.Gln87Arg		D3DXH7|Q8NDK1	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.Q87R	ENST00000414820.1	37	c.260	CCDS2030.1	2	.	.	.	.	.	.	.	.	.	.	t	6.781	0.513072	0.12944	.	.	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	T;T;T	0.29655	1.56;1.56;1.56	0.596	-1.19	0.09585	.	0.417750	0.26352	N	0.024870	T	0.15132	0.0365	N	0.21194	0.64	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09314	-1.0680	10	0.41790	T	0.15	.	4.2385	0.10637	0.0:0.0:0.3451:0.6548	.	87	Q6P2I3	FAH2B_HUMAN	R	87	ENSP00000410470:Q87R;ENSP00000272610:Q87R;ENSP00000444599:Q87R	ENSP00000272610:Q87R	Q	-	2	0	FAHD2B	97119775	0.129000	0.22400	0.390000	0.26220	0.783000	0.44284	0.230000	0.17852	-0.541000	0.06257	0.234000	0.17832	CAG	FAHD2B	-	NULL	ENSG00000144199		0.582	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAHD2B	HGNC	protein_coding	OTTHUMT00000339482.1	-	0.00	123	0	T	NM_199336		97756048	-1	tier1	-	no_errors	ENST00000272610	ensembl	human	known	74_37	missense	36.96	58	34	SNP	0.189	C
FAHD2B	151313	genome.wustl.edu	37	2	97757244	97757244	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:97757244G>A	ENST00000414820.1	-	3	470	c.200C>T	c.(199-201)aCg>aTg	p.T67M	FAHD2B_ENST00000272610.3_Missense_Mutation_p.T67M|FAHD2B_ENST00000440566.2_Missense_Mutation_p.T67M|FAHD2B_ENST00000468548.1_Intron			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	67							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						TAGGAACTGCGTCATCGTCTT	0.607																																																	0													79.0	71.0	73.0					2																	97757244		2203	4299	6502	SO:0001583	missense	0				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.200C>T	2.37:g.97757244G>A	ENSP00000410470:p.Thr67Met		D3DXH7|Q8NDK1	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.T67M	ENST00000414820.1	37	c.200	CCDS2030.1	2	.	.	.	.	.	.	.	.	.	.	g	6.969	0.548820	0.13312	.	.	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	T;T;T	0.30981	1.51;1.51;1.51	0.707	-1.21	0.09524	.	0.387001	0.25948	N	0.027278	T	0.14313	0.0346	N	0.24115	0.695	0.21527	N	0.999654	B	0.06786	0.001	B	0.04013	0.001	T	0.08868	-1.0701	10	0.41790	T	0.15	.	2.2337	0.04002	0.4088:0.3128:0.2784:0.0	.	67	Q6P2I3	FAH2B_HUMAN	M	67	ENSP00000410470:T67M;ENSP00000272610:T67M;ENSP00000444599:T67M	ENSP00000272610:T67M	T	-	2	0	FAHD2B	97120971	0.998000	0.40836	0.775000	0.31657	0.259000	0.26198	0.866000	0.27954	-0.387000	0.07809	0.162000	0.16502	ACG	FAHD2B	-	NULL	ENSG00000144199		0.607	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAHD2B	HGNC	protein_coding	OTTHUMT00000339482.1	-	0.00	102	0	G	NM_199336		97757244	-1	tier1	-	no_errors	ENST00000272610	ensembl	human	known	74_37	missense	42.35	49	36	SNP	0.991	A
FAM104B	90736	genome.wustl.edu	37	X	55172586	55172586	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:55172586G>A	ENST00000358460.4	-	3	405				FAM104B_ENST00000477847.2_Silent_p.S90S|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000425133.2_Silent_p.S94S|FAM104B_ENST00000489298.1_Silent_p.S92S|FAM104B_ENST00000478918.1_5'Flank			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B									p.S94S(1)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GGTTGATATGGGAGTAAAGAC	0.478																																																	1	Substitution - coding silent(1)	endometrium(1)											78.0	66.0	70.0					X																	55172586		2203	4297	6500	SO:0001627	intron_variant	0			BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"""chromosome X open reading frame 44"""	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.251+27C>T	X.37:g.55172586G>A			A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Silent	SNP	NULL	p.S94	ENST00000358460.4	37	c.282	CCDS35305.2	X																																																																																			FAM104B	-	NULL	ENSG00000182518		0.478	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM104B	HGNC	protein_coding	OTTHUMT00000056851.1		0.00	28	0	G	NM_138362		55172586	-1			no_errors	ENST00000425133	ensembl	human	known	74_37	silent	7.41	50	4	SNP	0.008	A
FAM111B	374393	genome.wustl.edu	37	11	58892343	58892343	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:58892343A>G	ENST00000343597.3	+	4	964	c.773A>G	c.(772-774)gAa>gGa	p.E258G	FAM111B_ENST00000529618.1_Missense_Mutation_p.E228G|FAM111B_ENST00000411426.1_Missense_Mutation_p.E228G	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	258							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						ATGGTGGATGAAGTATCTGGA	0.333																																																	0													51.0	53.0	53.0					11																	58892343		2197	4291	6488	SO:0001583	missense	0			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.773A>G	11.37:g.58892343A>G	ENSP00000341565:p.Glu258Gly		B4E2G2|Q6P661	Missense_Mutation	SNP	superfamily_Trypsin-like_Pept_dom	p.E258G	ENST00000343597.3	37	c.773	CCDS7972.1	11	.	.	.	.	.	.	.	.	.	.	A	12.75	2.032003	0.35893	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.33216	1.42;1.42;1.42	4.18	1.71	0.24356	.	1.072870	0.07314	N	0.876472	T	0.27559	0.0677	L	0.59436	1.845	0.09310	N	1	P	0.43750	0.816	B	0.37144	0.242	T	0.22765	-1.0207	10	0.59425	D	0.04	.	5.3794	0.16183	0.4758:0.3534:0.0:0.1708	.	258	Q6SJ93	F111B_HUMAN	G	228;228;258	ENSP00000393855:E228G;ENSP00000432875:E228G;ENSP00000341565:E258G	ENSP00000341565:E258G	E	+	2	0	FAM111B	58648919	0.002000	0.14202	0.007000	0.13788	0.529000	0.34654	1.065000	0.30592	0.221000	0.20879	0.533000	0.62120	GAA	FAM111B	-	NULL	ENSG00000189057		0.333	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM111B	HGNC	protein_coding	OTTHUMT00000393974.1	-	0.00	25	0	A	NM_198947		58892343	+1	tier1	-	no_errors	ENST00000343597	ensembl	human	known	74_37	missense	34.78	15	8	SNP	0.001	G
FAM111B	374393	genome.wustl.edu	37	11	58893105	58893105	+	Missense_Mutation	SNP	G	G	T	rs373825314		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:58893105G>T	ENST00000343597.3	+	4	1726	c.1535G>T	c.(1534-1536)tGt>tTt	p.C512F	FAM111B_ENST00000529618.1_Missense_Mutation_p.C482F|FAM111B_ENST00000411426.1_Missense_Mutation_p.C482F	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	512							catalytic activity (GO:0003824)	p.C512Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						ATTAGCAAATGTGCGAAGGTA	0.388																																																	1	Substitution - Missense(1)	endometrium(1)						G	PHE/CYS,PHE/CYS,PHE/CYS	0,4402		0,0,2201	107.0	102.0	104.0		1535,1445,1445	0.3	0.0	11		104	1,8587		0,1,4293	no	missense,missense,missense	FAM111B	NM_198947.3,NM_001142704.1,NM_001142703.1	205,205,205	0,1,6494	TT,TG,GG		0.0116,0.0,0.0077	benign,benign,benign	512/735,482/705,482/705	58893105	1,12989	2201	4294	6495	SO:0001583	missense	0			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.1535G>T	11.37:g.58893105G>T	ENSP00000341565:p.Cys512Phe		B4E2G2|Q6P661	Missense_Mutation	SNP	superfamily_Trypsin-like_Pept_dom	p.C512F	ENST00000343597.3	37	c.1535	CCDS7972.1	11	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815360	0.32053	0.0	1.16E-4	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	D;D;D	0.87966	-2.32;-2.32;-2.32	4.33	0.306	0.15806	Peptidase cysteine/serine, trypsin-like (1);	0.759845	0.11813	N	0.526926	D	0.82733	0.5101	M	0.75777	2.31	0.09310	N	1	B	0.18013	0.025	B	0.20577	0.03	T	0.73528	-0.3954	10	0.72032	D	0.01	.	0.798	0.01069	0.2852:0.1627:0.3846:0.1676	.	512	Q6SJ93	F111B_HUMAN	F	482;482;512	ENSP00000393855:C482F;ENSP00000432875:C482F;ENSP00000341565:C512F	ENSP00000341565:C512F	C	+	2	0	FAM111B	58649681	0.339000	0.24784	0.010000	0.14722	0.002000	0.02628	0.229000	0.17833	0.199000	0.20427	-0.905000	0.02835	TGT	FAM111B	-	superfamily_Trypsin-like_Pept_dom	ENSG00000189057		0.388	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM111B	HGNC	protein_coding	OTTHUMT00000393974.1		0.00	35	0	G	NM_198947		58893105	+1			no_errors	ENST00000343597	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.001	T
FAM117A	81558	genome.wustl.edu	37	17	47795063	47795063	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:47795063G>T	ENST00000240364.2	-	6	801	c.722C>A	c.(721-723)cCt>cAt	p.P241H	FAM117A_ENST00000514018.1_5'UTR|RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000513602.1_De_novo_Start_OutOfFrame	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	241										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GTGCCCATCAGGGATATCAAG	0.592																																																	0													53.0	55.0	54.0					17																	47795063		2203	4300	6503	SO:0001583	missense	0			BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.722C>A	17.37:g.47795063G>T	ENSP00000240364:p.Pro241His		B7Z7Q3	Missense_Mutation	SNP	NULL	p.P241H	ENST00000240364.2	37	c.722	CCDS11553.1	17	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245474	0.39697	.	.	ENSG00000121104	ENST00000240364;ENST00000511743;ENST00000506156	.	.	.	4.9	4.9	0.64082	.	0.070016	0.64402	D	0.000020	T	0.77798	0.4184	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80299	-0.1441	9	0.87932	D	0	-11.2919	15.1158	0.72401	0.0:0.0:1.0:0.0	.	241	Q9C073	F117A_HUMAN	H	241;131;209	.	ENSP00000240364:P241H	P	-	2	0	FAM117A	45150062	1.000000	0.71417	0.828000	0.32881	0.038000	0.13279	5.520000	0.67080	2.543000	0.85770	0.655000	0.94253	CCT	FAM117A	-	NULL	ENSG00000121104		0.592	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM117A	HGNC	protein_coding	OTTHUMT00000365736.1	-	0.00	72	0	G	NM_030802		47795063	-1	tier1	-	no_errors	ENST00000240364	ensembl	human	known	74_37	missense	9.43	48	5	SNP	0.985	T
FAM120A	23196	genome.wustl.edu	37	9	96259883	96259884	+	Splice_Site	INS	-	-	A	rs35062269|rs554262666|rs397936267	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:96259883_96259884insA	ENST00000277165.6	+	4	1127		c.e4+2		FAM120A_ENST00000375389.3_Splice_Site|FAM120A_ENST00000340893.4_Splice_Site|FAM120A_ENST00000333936.5_Splice_Site	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A							cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATTCACAGGTAAAAAAAAAAA	0.436													|||unknown(HR)	1255	0.250599	0.4834	0.245	5008	,	,		26167	0.1835		0.1571	False		,,,				2504	0.1053																0																																										SO:0001630	splice_region_variant	0			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.933+2->A	9.37:g.96259894_96259894dupA			A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Splice_Site	INS	-	e4+2	ENST00000277165.6	37	c.933+2_933+1	CCDS6706.1	9																																																																																			FAM120A	-	-	ENSG00000048828		0.436	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	HGNC	protein_coding	OTTHUMT00000053160.2		0.00	37	0	-	NM_014612	Intron	96259884	+1	tier1		no_errors	ENST00000333936	ensembl	human	known	74_37	splice_site_ins	17.46	52	11	INS	1.000:0.997	A
FAM124A	220108	genome.wustl.edu	37	13	51825749	51825749	+	Silent	SNP	C	C	T	rs369389901		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:51825749C>T	ENST00000322475.8	+	3	381	c.246C>T	c.(244-246)tcC>tcT	p.S82S	FAM124A_ENST00000280057.6_Silent_p.S118S	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	82										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		TCCGGGTGTCCGAGAGGCGGG	0.692																																																	0													12.0	13.0	13.0					13																	51825749		2196	4285	6481	SO:0001819	synonymous_variant	0			AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.246C>T	13.37:g.51825749C>T			A2A324|Q8N8P9|Q8NE66|Q96NJ9	Silent	SNP	NULL	p.S118	ENST00000322475.8	37	c.354	CCDS55900.1	13																																																																																			FAM124A	-	NULL	ENSG00000150510		0.692	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM124A	HGNC	protein_coding	OTTHUMT00000045019.3	-	0.00	21	0	C	NM_145019		51825749	+1	tier1	-	no_errors	ENST00000280057	ensembl	human	known	74_37	silent	30.77	18	8	SNP	0.001	T
FAM131A	131408	genome.wustl.edu	37	3	184062461	184062461	+	Silent	SNP	G	G	A	rs377495075		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:184062461G>A	ENST00000310585.4	+	3	2075	c.711G>A	c.(709-711)ccG>ccA	p.P237P	FAM131A_ENST00000340957.5_Silent_p.P183P|FAM131A_ENST00000450976.1_Silent_p.P183P|FAM131A_ENST00000383847.2_Silent_p.P268P|FAM131A_ENST00000418281.1_Silent_p.P145P|FAM131A_ENST00000453072.1_Silent_p.P183P|EIF2B5_ENST00000444495.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	237						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGGCTCCCCGGCCCGGCTGG	0.682													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16361	0.0		0.0	False		,,,				2504	0.0																0								G	,	0,4406		0,0,2203	62.0	70.0	67.0		549,804	-10.8	0.0	3		67	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous	FAM131A	NM_001171093.1,NM_144635.4	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	183/282,268/367	184062461	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.711G>A	3.37:g.184062461G>A			D3DNT6|G5E9B1|Q8TA84	Silent	SNP	NULL	p.P268	ENST00000310585.4	37	c.804		3																																																																																			FAM131A	-	NULL	ENSG00000175182		0.682	FAM131A-002	KNOWN	basic	protein_coding	FAM131A	HGNC	protein_coding	OTTHUMT00000343462.1	-	0.00	113	0	G	NM_144635		184062461	+1	tier1	-	no_errors	ENST00000383847	ensembl	human	known	74_37	silent	34.00	66	34	SNP	0.001	A
FAM131C	348487	genome.wustl.edu	37	1	16385004	16385004	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:16385004G>A	ENST00000375662.4	-	7	954	c.771C>T	c.(769-771)acC>acT	p.T257T	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	257	Pro-rich.									large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CCGGGGGGTGGGTCCCACCCT	0.721																																																	0													3.0	3.0	3.0					1																	16385004		1430	3200	4630	SO:0001819	synonymous_variant	0				CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 117"""	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.771C>T	1.37:g.16385004G>A			Q5T5Q5|Q8N3X3|Q8N9P9	Silent	SNP	superfamily_Chromodomain-like	p.T257	ENST00000375662.4	37	c.771	CCDS41270.1	1																																																																																			FAM131C	-	NULL	ENSG00000185519		0.721	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM131C	HGNC	protein_coding	OTTHUMT00000026319.1		0.00	63	0	G	NM_182623		16385004	-1			no_errors	ENST00000375662	ensembl	human	known	74_37	silent	9.38	58	6	SNP	0.004	A
FAM133A	286499	genome.wustl.edu	37	X	92964950	92964950	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:92964950delA	ENST00000355813.5	+	4	1058	c.532delA	c.(532-534)aaafs	p.K179fs	FAM133A_ENST00000322139.4_Frame_Shift_Del_p.K179fs|FAM133A_ENST00000538690.1_Frame_Shift_Del_p.K179fs|FAM133A_ENST00000332647.4_Frame_Shift_Del_p.K179fs	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	179	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAGCCTCAGCAAAAAAAGAAA	0.363																																																	0													23.0	22.0	22.0					X																	92964950		2200	4291	6491	SO:0001589	frameshift_variant	0			AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.532delA	X.37:g.92964950delA	ENSP00000348067:p.Lys179fs			Frame_Shift_Del	DEL	NULL	p.R180fs	ENST00000355813.5	37	c.532	CCDS14466.1	X																																																																																			FAM133A	-	NULL	ENSG00000179083		0.363	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM133A	HGNC	protein_coding	OTTHUMT00000057452.1		0.00	13	0	A	NM_173698		92964950	+1	tier1		no_errors	ENST00000322139	ensembl	human	known	74_37	frame_shift_del	66.67	3	6	DEL	0.996	-
FAM135B	51059	genome.wustl.edu	37	8	139144926	139144926	+	Silent	SNP	C	C	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:139144926C>G	ENST00000395297.1	-	20	4301	c.4131G>C	c.(4129-4131)ctG>ctC	p.L1377L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1377								p.L1377L(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTCGGCCGATCAGGGTGTTGG	0.527										HNSCC(54;0.14)																																							2	Substitution - coding silent(2)	lung(2)											197.0	209.0	205.0					8																	139144926		1965	4156	6121	SO:0001819	synonymous_variant	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4131G>C	8.37:g.139144926C>G			B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.L1377	ENST00000395297.1	37	c.4131	CCDS6375.2	8																																																																																			FAM135B	-	NULL	ENSG00000147724		0.527	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0.00	43	0	C	NM_015912		139144926	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	silent	40.32	37	25	SNP	1.000	G
FAM135B	51059	genome.wustl.edu	37	8	139151309	139151309	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:139151309G>T	ENST00000395297.1	-	18	3991	c.3821C>A	c.(3820-3822)tCc>tAc	p.S1274Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1274										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAGAGACCCGGATTTCTTCAG	0.398										HNSCC(54;0.14)																																							0													113.0	107.0	109.0					8																	139151309		1852	4103	5955	SO:0001583	missense	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3821C>A	8.37:g.139151309G>T	ENSP00000378710:p.Ser1274Tyr		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.S1274Y	ENST00000395297.1	37	c.3821	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845842	0.91277	.	.	ENSG00000147724	ENST00000395297	T	0.44482	0.92	5.82	5.82	0.92795	Domain of unknown function DUF676, lipase-like (1);	0.000000	0.85682	D	0.000000	T	0.74351	0.3705	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80162	-0.1497	10	0.87932	D	0	-19.1946	19.0882	0.93215	0.0:0.0:1.0:0.0	.	1274	Q49AJ0	F135B_HUMAN	Y	1274	ENSP00000378710:S1274Y	ENSP00000378710:S1274Y	S	-	2	0	FAM135B	139220491	1.000000	0.71417	0.958000	0.39756	0.960000	0.62799	9.869000	0.99810	2.760000	0.94817	0.655000	0.94253	TCC	FAM135B	-	pfam_DUF676_lipase-like	ENSG00000147724		0.398	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	-	0.00	60	0	G	NM_015912		139151309	-1	tier1	-	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	25.76	49	17	SNP	1.000	T
FAM135B	51059	genome.wustl.edu	37	8	139163952	139163952	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:139163952G>T	ENST00000395297.1	-	13	2936	c.2766C>A	c.(2764-2766)ggC>ggA	p.G922G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	922										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CCTCTGAGATGCCACTGTTGG	0.507										HNSCC(54;0.14)																																							0													135.0	128.0	130.0					8																	139163952		2203	4300	6503	SO:0001819	synonymous_variant	0			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2766C>A	8.37:g.139163952G>T			B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.G922	ENST00000395297.1	37	c.2766	CCDS6375.2	8																																																																																			FAM135B	-	NULL	ENSG00000147724		0.507	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3		0.00	35	0	G	NM_015912		139163952	-1			no_errors	ENST00000395297	ensembl	human	known	74_37	silent	6.82	41	3	SNP	0.000	T
FAM13A	10144	genome.wustl.edu	37	4	89708944	89708946	+	In_Frame_Del	DEL	GGC	GGC	-	rs544975687		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:89708944_89708946delGGC	ENST00000264344.5	-	10	1436_1438	c.1229_1231delGCC	c.(1228-1233)cgccag>cag	p.R410del	FAM13A_ENST00000508369.1_In_Frame_Del_p.R84del|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000503556.1_In_Frame_Del_p.R70del|FAM13A_ENST00000513837.1_In_Frame_Del_p.R56del|FAM13A_ENST00000395002.2_In_Frame_Del_p.R84del	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	410					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						TCCTTGGACTGGCGGCGGCGCTG	0.438																																																	0																																										SO:0001651	inframe_deletion	0			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1229_1231delGCC	4.37:g.89708950_89708952delGGC	ENSP00000264344:p.Arg410del		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	In_Frame_Del	DEL	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R410in_frame_del	ENST00000264344.5	37	c.1231_1229	CCDS34029.1	4																																																																																			FAM13A	-	NULL	ENSG00000138640		0.438	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1		0.00	45	0	GGC			89708946	-1	tier1		no_errors	ENST00000264344	ensembl	human	known	74_37	in_frame_del	38.30	29	18	DEL	0.947:0.929:0.952	-
FAM151A	338094	genome.wustl.edu	37	1	55081757	55081757	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:55081757delG	ENST00000302250.2	-	3	511	c.351delC	c.(349-351)cccfs	p.P117fs	FAM151A_ENST00000371304.2_Frame_Shift_Del_p.P117fs|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	117						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TGTAGATAGTGGGGGGGTGTG	0.592																																																	1	Deletion - Frameshift(1)	ovary(1)											108.0	86.0	93.0					1																	55081757		2203	4300	6503	SO:0001589	frameshift_variant	0			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.351delC	1.37:g.55081757delG	ENSP00000306888:p.Pro117fs		Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Del	DEL	pfam_DUF2181	p.T118fs	ENST00000302250.2	37	c.351	CCDS594.1	1																																																																																			FAM151A	-	pfam_DUF2181	ENSG00000162391		0.592	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	HGNC	protein_coding	OTTHUMT00000027342.1		0.00	43	0	G	NM_176782		55081757	-1	tier1		no_errors	ENST00000302250	ensembl	human	known	74_37	frame_shift_del	34.09	29	15	DEL	0.037	-
FAM155B	27112	genome.wustl.edu	37	X	68725612	68725613	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:68725612_68725613insC	ENST00000252338.4	+	1	529_530	c.487_488insC	c.(487-489)gccfs	p.A163fs	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	163						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GACTACTCCGGCCCCCCCTCTG	0.624																																																	0																																										SO:0001589	frameshift_variant	0			AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.494dupC	X.37:g.68725619_68725619dupC	ENSP00000252338:p.Ala163fs		B1ALV6|B9EGK1|D3DVU1	Frame_Shift_Ins	INS	NULL	p.L166fs	ENST00000252338.4	37	c.487_488	CCDS35317.1	X																																																																																			FAM155B	-	NULL	ENSG00000130054		0.624	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155B	HGNC	protein_coding	OTTHUMT00000057037.1		0.00	25	0	-	NM_015686		68725613	+1	tier1		no_errors	ENST00000252338	ensembl	human	known	74_37	frame_shift_ins	59.09	9	13	INS	0.069:0.029	C
FAM155B	27112	genome.wustl.edu	37	X	68725612	68725613	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:68725612_68725613insCC	ENST00000252338.4	+	1	529_530	c.487_488insCC	c.(487-489)gccfs	p.A163fs	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	163						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GACTACTCCGGCCCCCCCTCTG	0.624																																																	0																																										SO:0001589	frameshift_variant	0			AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.492_493dupCC	X.37:g.68725617_68725618dupCC	ENSP00000252338:p.Ala163fs		B1ALV6|B9EGK1|D3DVU1	Frame_Shift_Ins	INS	NULL	p.L167fs	ENST00000252338.4	37	c.487_488	CCDS35317.1	X																																																																																			FAM155B	-	NULL	ENSG00000130054		0.624	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155B	HGNC	protein_coding	OTTHUMT00000057037.1		0.00	25	0	-	NM_015686		68725613	+1	tier1		no_errors	ENST00000252338	ensembl	human	known	74_37	frame_shift_ins	13.64	19	3	INS	0.069:0.029	CC
FAM155B	27112	genome.wustl.edu	37	X	68725688	68725688	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:68725688A>G	ENST00000252338.4	+	1	605	c.563A>G	c.(562-564)aAa>aGa	p.K188R	AL158069.1_ENST00000579664.1_RNA	NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	188						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						AACTTGCTCAAAGGCCACTTT	0.612																																																	0													51.0	51.0	51.0					X																	68725688		2203	4300	6503	SO:0001583	missense	0			AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.563A>G	X.37:g.68725688A>G	ENSP00000252338:p.Lys188Arg		B1ALV6|B9EGK1|D3DVU1	Missense_Mutation	SNP	NULL	p.K188R	ENST00000252338.4	37	c.563	CCDS35317.1	X	.	.	.	.	.	.	.	.	.	.	A	9.374	1.071195	0.20147	.	.	ENSG00000130054	ENST00000252338	T	0.11930	2.73	4.9	2.31	0.28768	.	0.309084	0.26163	N	0.025965	T	0.04907	0.0132	N	0.08118	0	0.26824	N	0.968734	B	0.14805	0.011	B	0.14578	0.011	T	0.39563	-0.9608	10	0.11485	T	0.65	-4.8655	4.4196	0.11474	0.6747:0.2014:0.124:0.0	.	188	O75949-2	.	R	188	ENSP00000252338:K188R	ENSP00000252338:K188R	K	+	2	0	FAM155B	68642413	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.268000	0.33062	1.623000	0.50342	0.378000	0.23410	AAA	FAM155B	-	NULL	ENSG00000130054		0.612	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155B	HGNC	protein_coding	OTTHUMT00000057037.1	-	0.00	21	0	A	NM_015686		68725688	+1	tier1	-	no_errors	ENST00000252338	ensembl	human	known	74_37	missense	92.86	1	13	SNP	1.000	G
FAM163A	148753	genome.wustl.edu	37	1	179783147	179783147	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:179783147G>A	ENST00000341785.4	+	5	723	c.327G>A	c.(325-327)acG>acA	p.T109T	RP11-12M5.3_ENST00000415218.1_RNA|RP11-12M5.3_ENST00000453051.1_RNA	NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	109						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						ACATACGGACGGCTGACATGG	0.637																																																	0													57.0	55.0	55.0					1																	179783147		2203	4300	6503	SO:0001819	synonymous_variant	0			BC009382	CCDS1333.1	1q25.2	2008-06-05	2008-06-05	2008-06-05	ENSG00000143340	ENSG00000143340			28274	protein-coding gene	gene with protein product		611727	"""chromosome 1 open reading frame 76"""	C1orf76		12477932	Standard	NM_173509		Approved	MGC16664	uc001gnj.3	Q96GL9	OTTHUMG00000035262	ENST00000341785.4:c.327G>A	1.37:g.179783147G>A			A8K8R7	Silent	SNP	NULL	p.T109	ENST00000341785.4	37	c.327	CCDS1333.1	1																																																																																			FAM163A	-	NULL	ENSG00000143340		0.637	FAM163A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM163A	HGNC	protein_coding	OTTHUMT00000085300.1	-	0.00	62	0	G	NM_173509		179783147	+1	tier1	-	no_errors	ENST00000341785	ensembl	human	known	74_37	silent	36.23	44	25	SNP	0.977	A
FAM166A	401565	genome.wustl.edu	37	9	140140255	140140255	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:140140255C>T	ENST00000344774.4	-	2	161	c.107G>A	c.(106-108)gGg>gAg	p.G36E	FAM166A_ENST00000388932.2_Missense_Mutation_p.G36E	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	36						nucleus (GO:0005634)				kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CGTGGTACGCCCATAGGTGTT	0.612																																																	0													41.0	42.0	42.0					9																	140140255		2202	4300	6502	SO:0001583	missense	0			BC132916	CCDS35186.1	9q34.3	2008-08-08			ENSG00000188163	ENSG00000188163			33818	protein-coding gene	gene with protein product							Standard	XR_245332		Approved		uc004cmi.1	Q6J272	OTTHUMG00000159545	ENST00000344774.4:c.107G>A	9.37:g.140140255C>T	ENSP00000344729:p.Gly36Glu		A6NND9|Q8N830	Missense_Mutation	SNP	pfam_UPF0573/UPF0605	p.G36E	ENST00000344774.4	37	c.107	CCDS35186.1	9	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082773	0.76528	.	.	ENSG00000188163	ENST00000344774;ENST00000388932;ENST00000484720	T;T;T	0.71103	-0.54;-0.54;-0.54	4.57	4.57	0.56435	.	0.000000	0.64402	D	0.000001	D	0.84920	0.5579	M	0.83774	2.66	0.49213	D	0.99976	D	0.89917	1.0	D	0.97110	1.0	D	0.87600	0.2496	10	0.87932	D	0	-34.9724	16.0716	0.80940	0.0:1.0:0.0:0.0	.	36	Q6J272	F166A_HUMAN	E	36	ENSP00000344729:G36E;ENSP00000373584:G36E;ENSP00000420741:G36E	ENSP00000344729:G36E	G	-	2	0	FAM166A	139260076	0.995000	0.38212	1.000000	0.80357	0.774000	0.43823	3.655000	0.54460	2.362000	0.80069	0.462000	0.41574	GGG	FAM166A	-	pfam_UPF0573/UPF0605	ENSG00000188163		0.612	FAM166A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM166A	HGNC	protein_coding	OTTHUMT00000356125.1	-	0.00	30	0	C	NM_001001710		140140255	-1	tier1	-	no_errors	ENST00000344774	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	T
FAM171A1	221061	genome.wustl.edu	37	10	15256454	15256454	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:15256454G>T	ENST00000378116.4	-	8	1139	c.1133C>A	c.(1132-1134)tCc>tAc	p.S378Y	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	378						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCTGGTGACGGACAGCGGGCC	0.602																																																	0													43.0	49.0	47.0					10																	15256454		2203	4300	6503	SO:0001583	missense	0			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.1133C>A	10.37:g.15256454G>T	ENSP00000367356:p.Ser378Tyr		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.S378Y	ENST00000378116.4	37	c.1133	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527906	0.44969	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.34072	1.38	4.96	4.96	0.65561	.	0.165337	0.42420	D	0.000719	T	0.44052	0.1275	L	0.44542	1.39	0.23478	N	0.997594	P	0.47484	0.896	P	0.51266	0.664	T	0.36504	-0.9745	10	0.62326	D	0.03	-13.3715	16.5806	0.84714	0.0:0.0:1.0:0.0	.	378	Q5VUB5	F1711_HUMAN	Y	378;379	ENSP00000367356:S378Y	ENSP00000367356:S378Y	S	-	2	0	FAM171A1	15296460	.	.	0.768000	0.31515	0.474000	0.32979	.	.	2.564000	0.86499	0.563000	0.77884	TCC	FAM171A1	-	pfam_Uncharacterised_FAM171	ENSG00000148468		0.602	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	-	0.00	46	0	G	XM_167709		15256454	-1	tier1	-	no_errors	ENST00000378116	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.319	T
FAM174A	345757	genome.wustl.edu	37	5	99871109	99871109	+	5'UTR	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:99871109C>A	ENST00000312637.4	+	0	101				CTD-2001C12.1_ENST00000499025.1_lincRNA	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A							integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TGCCACCTGCCACGACCGGGC	0.642																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"""transmembrane protein 157"""	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.-126C>A	5.37:g.99871109C>A			A8K0H4	RNA	SNP	-	NULL	ENST00000312637.4	37	NULL	CCDS4090.1	5																																																																																			FAM174A	-	-	ENSG00000174132		0.642	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FAM174A	HGNC	protein_coding	OTTHUMT00000250631.2	-	0.00	69	0	C	NM_198507		99871109	+1	tier1	-	no_errors	ENST00000509040	ensembl	human	putative	74_37	rna	46.38	37	32	SNP	0.036	A
FAM179B	23116	genome.wustl.edu	37	14	45433438	45433438	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:45433438C>T	ENST00000361577.3	+	1	2028	c.1814C>T	c.(1813-1815)gCa>gTa	p.A605V	KLHL28_ENST00000396128.4_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.A605V|FAM179B_ENST00000382233.2_Missense_Mutation_p.A605V|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	605										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AACCATTTGGCACATGGAGCA	0.498																																																	0													131.0	116.0	121.0					14																	45433438		2203	4300	6503	SO:0001583	missense	0			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1814C>T	14.37:g.45433438C>T	ENSP00000355045:p.Ala605Val		Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A605V	ENST00000361577.3	37	c.1814	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300605	0.23650	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.04317	3.65;3.65;3.65	4.47	4.47	0.54385	Armadillo-type fold (1);	0.307176	0.27406	N	0.019502	T	0.03348	0.0097	N	0.14661	0.345	0.32231	N	0.573933	B;P;B;B	0.38504	0.027;0.634;0.025;0.027	B;B;B;B	0.35971	0.029;0.215;0.028;0.02	T	0.22871	-1.0204	10	0.46703	T	0.11	-10.9535	10.5651	0.45167	0.0:0.9106:0.0:0.0894	.	605;605;605;605	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	V	605	ENSP00000355045:A605V;ENSP00000354917:A605V;ENSP00000371668:A605V	ENSP00000354917:A605V	A	+	2	0	FAM179B	44503188	0.985000	0.35326	1.000000	0.80357	0.773000	0.43773	2.232000	0.43018	2.311000	0.77944	0.561000	0.74099	GCA	FAM179B	-	superfamily_ARM-type_fold	ENSG00000198718		0.498	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	-	0.00	62	0	C	XM_113781		45433438	+1	tier1	-	no_errors	ENST00000361577	ensembl	human	known	74_37	missense	36.54	33	19	SNP	0.895	T
FAM184A	79632	genome.wustl.edu	37	6	119338013	119338013	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:119338013C>T	ENST00000338891.7	-	5	1872	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K	FAM184A_ENST00000368475.4_Missense_Mutation_p.E357K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E357K|FAM184A_ENST00000522284.1_Missense_Mutation_p.E357K|FAM184A_ENST00000521531.1_Missense_Mutation_p.E477K|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	477						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GAATGGGCCTCGTTTAATTGA	0.368																																																	0													134.0	129.0	131.0					6																	119338013		1823	4083	5906	SO:0001583	missense	0			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1429G>A	6.37:g.119338013C>T	ENSP00000342604:p.Glu477Lys		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	superfamily_Prefoldin	p.E477K	ENST00000338891.7	37	c.1429	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512216	0.64522	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.00463	7.25;7.25;7.25;7.25;7.25	5.18	4.31	0.51392	.	0.049067	0.85682	D	0.000000	T	0.00144	0.0004	L	0.41236	1.265	0.80722	D	1	B;B;B	0.28584	0.178;0.108;0.216	B;B;B	0.19391	0.025;0.014;0.024	T	0.65187	-0.6229	10	0.16896	T	0.51	-13.418	13.9677	0.64218	0.0:0.9252:0.0:0.0748	.	477;357;477	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	K	477;357;357;477;357	ENSP00000342604:E477K;ENSP00000326608:E357K;ENSP00000357460:E357K;ENSP00000430442:E477K;ENSP00000429826:E357K	ENSP00000342604:E477K	E	-	1	0	FAM184A	119379712	1.000000	0.71417	0.999000	0.59377	0.864000	0.49448	4.358000	0.59442	2.433000	0.82419	0.491000	0.48974	GAG	FAM184A	-	NULL	ENSG00000111879		0.368	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	-	0.00	62	0	C	NM_024581		119338013	-1	tier1	-	no_errors	ENST00000338891	ensembl	human	known	74_37	missense	39.02	50	32	SNP	1.000	T
FAM184B	27146	genome.wustl.edu	37	4	17634191	17634192	+	Missense_Mutation	DNP	CG	CG	TA	rs375844975		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C|G	C|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:17634191_17634192CG>TA	ENST00000265018.3	-	18	3358_3359	c.3146_3147CG>TA	c.(3145-3147)cCG>cTA	p.P1049L	MED28_ENST00000237380.7_3'UTR	NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	1049										NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						ATTCCTGGTGCGGAGAGCCCTG	0.391																																																	0																																										SO:0001583	missense	0				CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.3146_3147delinsTA	4.37:g.17634191_17634192delinsTA	ENSP00000265018:p.Pro1049Leu			Silent|Missense_Mutation	SNP	NULL	p.P1049|p.P1049L	ENST00000265018.3	37	c.3147|c.3146	CCDS47033.1	4																																																																																			FAM184B	-	NULL	ENSG00000047662		0.391	FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184B	HGNC	protein_coding	OTTHUMT00000360137.1	-	0.00	137	0	C|G	NM_015688		17634191|17634192	-1	tier1	-	no_errors	ENST00000265018	ensembl	human	known	74_37	silent|missense	39.88|30.49	98|112	65|50	SNP	0.000	T|A
FAM184B	27146	genome.wustl.edu	37	4	17711179	17711179	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:17711179G>A	ENST00000265018.3	-	2	442	c.230C>T	c.(229-231)gCg>gTg	p.A77V		NM_015688.1	NP_056503.1	Q9ULE4	F184B_HUMAN	family with sequence similarity 184, member B	77										NS(1)|central_nervous_system(1)|endometrium(1)|prostate(1)	4						CTCTGCCACCGCATTCTGGAG	0.637																																																	0													7.0	8.0	8.0					4																	17711179		690	1588	2278	SO:0001583	missense	0				CCDS47033.1	4p16	2009-04-22			ENSG00000047662	ENSG00000047662			29235	protein-coding gene	gene with protein product						10574462	Standard	NM_015688		Approved	KIAA1276	uc003gpm.4	Q9ULE4	OTTHUMG00000160287	ENST00000265018.3:c.230C>T	4.37:g.17711179G>A	ENSP00000265018:p.Ala77Val			Missense_Mutation	SNP	NULL	p.A77V	ENST00000265018.3	37	c.230	CCDS47033.1	4	.	.	.	.	.	.	.	.	.	.	G	9.971	1.225589	0.22457	.	.	ENSG00000047662	ENST00000265018	T	0.75589	-0.95	5.18	3.16	0.36331	.	0.415187	0.22954	N	0.053623	T	0.45657	0.1353	N	0.03608	-0.345	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.25222	-1.0138	10	0.38643	T	0.18	-9.8887	4.0268	0.09692	0.5183:0.0:0.4817:0.0	.	77	Q9ULE4	F184B_HUMAN	V	77	ENSP00000265018:A77V	ENSP00000265018:A77V	A	-	2	0	FAM184B	17320277	0.067000	0.21026	0.201000	0.23476	0.818000	0.46254	2.525000	0.45598	1.168000	0.42723	0.563000	0.77884	GCG	FAM184B	-	NULL	ENSG00000047662		0.637	FAM184B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184B	HGNC	protein_coding	OTTHUMT00000360137.1	-	0.00	58	0	G	NM_015688		17711179	-1	tier1	-	no_errors	ENST00000265018	ensembl	human	known	74_37	missense	28.26	33	13	SNP	0.018	A
FAM204A	63877	genome.wustl.edu	37	10	120095902	120095902	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:120095902C>T	ENST00000369183.4	-	3	285	c.26G>A	c.(25-27)gGc>gAc	p.G9D	FAM204A_ENST00000469758.1_5'UTR|FAM204A_ENST00000369172.4_Missense_Mutation_p.G9D	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	9										kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						TTCATTTAGGCCAGGAGGTAG	0.388																																																	0													94.0	87.0	89.0					10																	120095902		2203	4299	6502	SO:0001583	missense	0			AK023250	CCDS7605.1	10q26.12	2011-06-01	2011-06-01	2011-06-01	ENSG00000165669	ENSG00000165669			25794	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 84"""	C10orf84		12477932	Standard	NM_022063		Approved	FLJ13188, bA319I23.1	uc010qss.1	Q9H8W3	OTTHUMG00000019131	ENST00000369183.4:c.26G>A	10.37:g.120095902C>T	ENSP00000358183:p.Gly9Asp		D3DRC6|Q5T373|Q9H5V5	Missense_Mutation	SNP	NULL	p.G9D	ENST00000369183.4	37	c.26	CCDS7605.1	10	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250880	0.80135	.	.	ENSG00000165669	ENST00000369183;ENST00000369172;ENST00000369170	.	.	.	5.93	5.04	0.67666	.	0.125415	0.53938	N	0.000060	T	0.66636	0.2809	L	0.53249	1.67	0.53688	D	0.999971	D	0.59767	0.986	P	0.58454	0.839	T	0.69045	-0.5249	9	0.59425	D	0.04	-4.2408	12.6395	0.56702	0.0:0.923:0.0:0.077	.	9	Q9H8W3	F204A_HUMAN	D	9	.	ENSP00000358168:G9D	G	-	2	0	FAM204A	120085892	0.995000	0.38212	1.000000	0.80357	0.981000	0.71138	2.090000	0.41682	1.542000	0.49330	-0.126000	0.14955	GGC	FAM204A	-	NULL	ENSG00000165669		0.388	FAM204A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM204A	HGNC	protein_coding	OTTHUMT00000050596.2	-	0.00	76	0	C	NM_022063		120095902	-1	tier1	-	no_errors	ENST00000369172	ensembl	human	known	74_37	missense	43.40	30	23	SNP	1.000	T
FAM205B	389715	genome.wustl.edu	37	9	34834815	34834815	+	RNA	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:34834815G>T	ENST00000455647.2	-	0	1578							Q63HN1	F205B_HUMAN	family with sequence similarity 205, member B																		CCAATTTGGCGAAAGTGGGGA	0.522																																																	0																																												0					9p13.3	2013-05-22	2011-08-15	2011-08-15	ENSG00000257198	ENSG00000257198			24504	other	unknown			"""chromosome 9 open reading frame 144"""	C9orf144			Standard	NR_024481		Approved	DKFZp434J193, C9orf144A	uc003zvp.4	Q63HN1	OTTHUMG00000019839		9.37:g.34834815G>T			Q6ZRJ7	RNA	SNP	-	NULL	ENST00000455647.2	37	NULL		9	.	.	.	.	.	.	.	.	.	.	G	42	9.686017	0.99238	.	.	ENSG00000257198	ENST00000455647	.	.	.	4.4	1.5	0.22942	.	0.636430	0.14049	N	0.344914	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.7185	0.12906	0.1964:0.1769:0.6267:0.0	.	.	.	.	X	225	.	ENSP00000398718:S225X	S	-	2	0	AL589645.1	34824815	0.001000	0.12720	0.000000	0.03702	0.373000	0.29922	1.017000	0.29989	0.142000	0.18901	-1.090000	0.02178	TCG	FAM205B	-	-	ENSG00000257198		0.522	FAM205B-001	KNOWN	basic	processed_transcript	FAM205B	HGNC	pseudogene	OTTHUMT00000052246.5	-	0.00	38	0	G	NR_024481		34834815	-1	tier1	-	no_errors	ENST00000455647	ensembl	human	known	74_37	rna	6.90	54	4	SNP	0.000	T
FAM214B	80256	genome.wustl.edu	37	9	35106613	35106613	+	Silent	SNP	C	C	T	rs370170024		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:35106613C>T	ENST00000378561.1	-	4	4036	c.981G>A	c.(979-981)ggG>ggA	p.G327G	FAM214B_ENST00000488109.2_Silent_p.G327G|FAM214B_ENST00000378554.2_Silent_p.G327G|FAM214B_ENST00000322813.5_Silent_p.G327G|FAM214B_ENST00000378557.1_Silent_p.G327G|FAM214B_ENST00000605244.1_Silent_p.G327G|FAM214B_ENST00000378566.1_Silent_p.G22G|FAM214B_ENST00000603301.1_Silent_p.G327G|FAM214B_ENST00000605392.1_5'Flank			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	327						nucleus (GO:0005634)											GCAGGCCTGGCCCCTTCCGGA	0.617																																																	0													10.0	12.0	11.0					9																	35106613		2170	4261	6431	SO:0001819	synonymous_variant	0			AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.981G>A	9.37:g.35106613C>T			B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Silent	SNP	NULL	p.G327	ENST00000378561.1	37	c.981	CCDS6578.1	9																																																																																			FAM214B	-	NULL	ENSG00000005238		0.617	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214B	HGNC	protein_coding	OTTHUMT00000052261.1	-	0.00	29	0	C	NM_025182		35106613	-1	tier1	-	no_errors	ENST00000322813	ensembl	human	known	74_37	silent	42.86	12	9	SNP	0.463	T
FAM206A	54942	genome.wustl.edu	37	9	111698011	111698011	+	Intron	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:111698011T>C	ENST00000322940.6	+	2	437				FAM206A_ENST00000374624.3_Intron|IKBKAP_ENST00000537196.1_5'Flank|FAM206A_ENST00000466200.1_3'UTR|IKBKAP_ENST00000374647.5_5'Flank	NM_017832.3	NP_060302.1	Q9NX38	F206A_HUMAN	family with sequence similarity 206, member A							nucleus (GO:0005634)											aatttttttttCCTGGTATTG	0.333																																																	0													23.0	23.0	23.0					9																	111698011		2201	4298	6499	SO:0001627	intron_variant	0			BC015795	CCDS6774.1	9q31	2011-08-15	2011-08-15	2011-08-15	ENSG00000119328	ENSG00000119328			1364	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 6"""	C9orf6			Standard	NM_017832		Approved	CG-8, FLJ20457	uc004bdn.3	Q9NX38	OTTHUMG00000020467	ENST00000322940.6:c.131+42T>C	9.37:g.111698011T>C			Q5JTR0|Q5JTR1	RNA	SNP	-	NULL	ENST00000322940.6	37	NULL	CCDS6774.1	9																																																																																			FAM206A	-	-	ENSG00000119328		0.333	FAM206A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM206A	HGNC	protein_coding	OTTHUMT00000053582.1	-	0.00	17	0	T	NM_017832		111698011	+1	tier1	-	no_errors	ENST00000466200	ensembl	human	known	74_37	rna	31.82	15	7	SNP	0.002	C
FAM227A	646851	genome.wustl.edu	37	22	39024946	39024946	+	Intron	DEL	A	A	-	rs553931988		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:39024946delA	ENST00000535113.1	-	7	1123				FAM227A_ENST00000540952.1_Intron|FAM227A_ENST00000406767.2_Intron|FAM227A_ENST00000355830.6_Intron	NM_001013647.1	NP_001013669.1	F5H4B4	F227A_HUMAN	family with sequence similarity 227, member A																		AAATGCTTGGAAAAAAAAATT	0.333																																																	0													50.0	45.0	47.0					22																	39024946		692	1591	2283	SO:0001627	intron_variant	0					22q13.1	2012-07-04			ENSG00000184949	ENSG00000184949			44197	protein-coding gene	gene with protein product							Standard	NM_001013647		Approved		uc011anw.1	F5H4B4	OTTHUMG00000151133	ENST00000535113.1:c.520-6T>-	22.37:g.39024946delA			B0QY52|B7Z7C6|Q5TG08	RNA	DEL	-	NULL	ENST00000535113.1	37	NULL		22																																																																																			FAM227A	-	-	ENSG00000184949		0.333	FAM227A-202	KNOWN	basic|appris_principal	protein_coding	FAM227A	HGNC	protein_coding			0.00	37	0	A	NM_001013647		39024946	-1	tier1		no_errors	ENST00000543295	ensembl	human	known	74_37	rna	35.00	13	7	DEL	0.000	-
FAM228B	375190	genome.wustl.edu	37	2	24392365	24392365	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:24392365delA	ENST00000407625.1	+	0	1215				AC008073.7_ENST00000428344.1_RNA|RP11-507M3.1_ENST00000584973.1_Intron|FAM228B_ENST00000420135.2_3'UTR|AC008073.7_ENST00000438414.1_RNA	NM_001145710.1	NP_001139182.1	P0C875	F228B_HUMAN	family with sequence similarity 228, member B																		TCCTGTCTCTAAAAAAAAAGC	0.403																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS74491.1	2p23.3	2012-07-04			ENSG00000219626	ENSG00000219626			24736	protein-coding gene	gene with protein product							Standard	NM_001145710		Approved		uc010ykl.2	P0C875	OTTHUMG00000151901	ENST00000407625.1:c.*169A>-	2.37:g.24392365delA				RNA	DEL	-	NULL	ENST00000407625.1	37	NULL		2																																																																																			FAM228B	-	-	ENSG00000219626		0.403	FAM228B-007	NOVEL	basic|appris_candidate	protein_coding	FAM228B	HGNC	protein_coding	OTTHUMT00000324328.1		0.00	15	0	A	NM_001145710		24392365	+1	tier1		no_errors	ENST00000468799	ensembl	human	known	74_37	rna	55.56	4	5	DEL	0.000	-
FAM230A	653203	genome.wustl.edu	37	22	20708955	20708955	+	Silent	SNP	C	C	T	rs538372579|rs67607046	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:20708955C>T	ENST00000434783.3	+	8	871	c.687C>T	c.(685-687)gtC>gtT	p.V229V	USP41_ENST00000454608.2_Intron|USP41_ENST00000486536.2_Intron					family with sequence similarity 230, member A																		CCCACGGCGTCGCTAACGAGG	0.657																																																	0																																										SO:0001819	synonymous_variant	0			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.687C>T	22.37:g.20708955C>T				Silent	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.V229	ENST00000434783.3	37	c.687		22																																																																																			FAM230A	-	superfamily_Kinase-like_dom	ENSG00000188280		0.657	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FAM230A	HGNC	protein_coding	OTTHUMT00000319609.4	-	0.00	62	0	C			20708955	+1	tier1	-	no_errors	ENST00000434783	ensembl	human	known	74_37	silent	52.83	25	28	SNP	0.052	T
FAM230A	653203	genome.wustl.edu	37	22	20710199	20710199	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:20710199C>T	ENST00000434783.3	+	8	2115	c.1931C>T	c.(1930-1932)gCg>gTg	p.A644V	USP41_ENST00000454608.2_Intron|USP41_ENST00000486536.2_Intron					family with sequence similarity 230, member A																		CCGCCCAGGGCGTCGCTAACG	0.711																																																	0																																										SO:0001583	missense	0			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.1931C>T	22.37:g.20710199C>T	ENSP00000463576:p.Ala644Val			Missense_Mutation	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.A644V	ENST00000434783.3	37	c.1931		22																																																																																			FAM230A	-	superfamily_Kinase-like_dom	ENSG00000188280		0.711	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FAM230A	HGNC	protein_coding	OTTHUMT00000319609.4	-	0.00	77	0	C			20710199	+1	tier1	-	no_errors	ENST00000434783	ensembl	human	known	74_37	missense	34.57	53	28	SNP	0.004	T
FAM230A	653203	genome.wustl.edu	37	22	20710754	20710754	+	Missense_Mutation	SNP	C	C	T	rs550537166		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:20710754C>T	ENST00000434783.3	+	8	2670	c.2486C>T	c.(2485-2487)aCg>aTg	p.T829M	USP41_ENST00000454608.2_Intron|USP41_ENST00000486536.2_Intron					family with sequence similarity 230, member A																		CTAAGGAGGACGCCGTCCAGG	0.682													N|||	1	0.000199681	0.0008	0.0	5008	,	,		15905	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	0			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.2486C>T	22.37:g.20710754C>T	ENSP00000463576:p.Thr829Met			Missense_Mutation	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.T829M	ENST00000434783.3	37	c.2486		22																																																																																			FAM230A	-	NULL	ENSG00000188280		0.682	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FAM230A	HGNC	protein_coding	OTTHUMT00000319609.4	-	0.00	262	0	C			20710754	+1	tier1	-	no_errors	ENST00000434783	ensembl	human	known	74_37	missense	16.42	168	33	SNP	0.000	T
FAM230B	642633	genome.wustl.edu	37	22	21539696	21539696	+	RNA	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:21539696T>C	ENST00000451257.1	+	0	2682									family with sequence similarity 230, member B (non-protein coding)																		ACATCGCTAATGAGGACGCTC	0.408																																																	0																																												0			BC039313, AK128837		22q11.21	2014-01-24	2014-01-06		ENSG00000215498	ENSG00000215498			32943	non-coding RNA	RNA, long non-coding			"""family with sequence similarity 230, member B"""				Standard	NR_108107		Approved	FLJ46366			OTTHUMG00000150782		22.37:g.21539696T>C				RNA	SNP	-	NULL	ENST00000451257.1	37	NULL		22																																																																																			FAM230B	-	-	ENSG00000215498		0.408	FAM230B-002	KNOWN	basic	lincRNA	FAM230B	HGNC	processed_transcript	OTTHUMT00000320063.1	-	0.00	74	0	T	NR_108107		21539696	+1	tier1	-	no_errors	ENST00000451257	ensembl	human	known	74_37	rna	18.03	50	11	SNP	0.566	C
FAM25C	644054	genome.wustl.edu	37	10	49207770	49207770	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:49207770G>A	ENST00000342763.4	-	1	48	c.30C>T	c.(28-30)gcC>gcT	p.A10A	FAM25C_ENST00000479781.1_5'Flank	NM_001137548.1	NP_001131020.1	B3EWG5	FM25C_HUMAN	family with sequence similarity 25, member C	10																	CCAGGCCCTCGGCAGCCAGCT	0.657																																																	0																																										SO:0001819	synonymous_variant	0					10q11.22	2008-08-13			ENSG00000188279				23586	protein-coding gene	gene with protein product							Standard	NM_001137548		Approved	bA164N7.4	uc010qfw.2	B3EWG5	OTTHUMG00000018165	ENST00000342763.4:c.30C>T	10.37:g.49207770G>A			B2RV02|Q5VTM1	Silent	SNP	prints_FAM25	p.A10	ENST00000342763.4	37	c.30	CCDS44383.1	10	.	.	.	.	.	.	.	.	.	.	.	2.886	-0.230675	0.05983	.	.	ENSG00000188279	ENST00000342763	.	.	.	0.569	-1.14	0.09741	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.1769	.	.	.	.	.	.	.	X	17	.	.	R	-	1	2	FAM25C	48877776	0.674000	0.27549	0.006000	0.13384	0.010000	0.07245	-1.054000	0.03496	-0.398000	0.07679	0.121000	0.15741	CGA	FAM25C	-	prints_FAM25	ENSG00000188279		0.657	FAM25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM25C	HGNC	protein_coding	OTTHUMT00000047913.2	-	0.00	184	0	G			49207770	-1	tier1	-	no_errors	ENST00000342763	ensembl	human	known	74_37	silent	17.68	135	29	SNP	0.005	A
FAM26E	254228	genome.wustl.edu	37	6	116836792	116836792	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:116836792G>A	ENST00000368599.3	+	2	621	c.570G>A	c.(568-570)gcG>gcA	p.A190A	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	190					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TTTGTTCAGCGTCTTTCTTCT	0.423																																																	0													168.0	172.0	170.0					6																	116836792		2203	4300	6503	SO:0001819	synonymous_variant	0			BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 188"""	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.570G>A	6.37:g.116836792G>A			B2RDJ9|B3KSR3	Silent	SNP	NULL	p.A190	ENST00000368599.3	37	c.570	CCDS5108.1	6																																																																																			FAM26E	-	NULL	ENSG00000178033		0.423	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM26E	HGNC	protein_coding	OTTHUMT00000041956.1	-	0.00	61	0	G	NM_153711		116836792	+1	tier1	-	no_errors	ENST00000368599	ensembl	human	known	74_37	silent	28.09	64	25	SNP	0.236	A
FAM71A	149647	genome.wustl.edu	37	1	212798457	212798457	+	Missense_Mutation	SNP	C	C	A	rs374912338		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:212798457C>A	ENST00000294829.3	+	1	669	c.238C>A	c.(238-240)Ctc>Atc	p.L80I	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	80						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CAGCCCCATCCTCCCACTCCC	0.557																																																	0								C	ILE/LEU	0,4406		0,0,2203	118.0	99.0	105.0		238	4.4	0.3	1		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM71A	NM_153606.3	5	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	80/595	212798457	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.238C>A	1.37:g.212798457C>A	ENSP00000294829:p.Leu80Ile		Q5VTZ1	Missense_Mutation	SNP	pfam_DUF3699	p.L80I	ENST00000294829.3	37	c.238	CCDS1507.1	1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742168	0.69418	0.0	1.16E-4	ENSG00000162771	ENST00000294829	T	0.07327	3.2	4.41	4.41	0.53225	.	0.231689	0.28192	N	0.016254	T	0.33789	0.0875	M	0.90483	3.12	0.22240	N	0.999262	D	0.89917	1.0	D	0.80764	0.994	T	0.18304	-1.0341	10	0.72032	D	0.01	-15.987	12.727	0.57176	0.0:1.0:0.0:0.0	.	80	Q8IYT1	FA71A_HUMAN	I	80	ENSP00000294829:L80I	ENSP00000294829:L80I	L	+	1	0	FAM71A	210865080	0.458000	0.25760	0.302000	0.25058	0.861000	0.49209	2.199000	0.42715	2.457000	0.83068	0.460000	0.39030	CTC	FAM71A	-	NULL	ENSG00000162771		0.557	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	HGNC	protein_coding	OTTHUMT00000098529.1	-	0.00	83	0	C	NM_153606		212798457	+1	tier1	-	no_errors	ENST00000294829	ensembl	human	known	74_37	missense	28.43	73	29	SNP	0.453	A
FAM71E2	284418	genome.wustl.edu	37	19	55869962	55869962	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:55869962C>A	ENST00000424985.3	-	9	2467	c.2274G>T	c.(2272-2274)caG>caT	p.Q758H	CTD-2105E13.6_ENST00000591954.3_Missense_Mutation_p.S308I	NM_001145402.1	NP_001138874.1	Q8N5Q1	F71E2_HUMAN	family with sequence similarity 71, member E2	758										NS(1)|breast(3)|endometrium(2)|kidney(1)|skin(1)	8						GCGACTCTGGCTGCTCTCTGA	0.662																																																	0													25.0	27.0	27.0					19																	55869962		692	1591	2283	SO:0001583	missense	0			AL834316		19q13.42	2014-04-02	2007-11-20	2007-11-20	ENSG00000180043	ENSG00000180043			25278	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 16"""	C19orf16			Standard	NM_001145402		Approved	DKFZp434G1729	uc002qkr.2	Q8N5Q1	OTTHUMG00000170357	ENST00000424985.3:c.2274G>T	19.37:g.55869962C>A	ENSP00000398617:p.Gln758His		Q8ND99	Missense_Mutation	SNP	pfam_DUF3699	p.Q758H	ENST00000424985.3	37	c.2274		19	.	.	.	.	.	.	.	.	.	.	c	13.95	2.388660	0.42308	.	.	ENSG00000180043	ENST00000424985	T	0.15718	2.4	3.6	-2.23	0.06930	.	.	.	.	.	T	0.10380	0.0254	N	0.14661	0.345	0.09310	N	1	D	0.56968	0.978	P	0.48189	0.57	T	0.17077	-1.0381	9	0.52906	T	0.07	.	3.1608	0.06520	0.2012:0.3091:0.0:0.4897	.	758	Q8N5Q1	F71E2_HUMAN	H	758	ENSP00000398617:Q758H	ENSP00000398617:Q758H	Q	-	3	2	FAM71E2	60561774	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.077000	0.03416	-0.217000	0.10033	-0.324000	0.08512	CAG	FAM71E2	-	NULL	ENSG00000180043		0.662	FAM71E2-010	NOVEL	basic|appris_principal	protein_coding	FAM71E2	HGNC	protein_coding	OTTHUMT00000409063.4	-	0.00	83	0	C	NM_001145402		55869962	-1	tier1	-	no_errors	ENST00000424985	ensembl	human	novel	74_37	missense	42.67	43	32	SNP	0.000	A
FAM83C	128876	genome.wustl.edu	37	20	33875260	33875260	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:33875260A>C	ENST00000374408.3	-	4	1418	c.1322T>G	c.(1321-1323)gTg>gGg	p.V441G	EIF6_ENST00000374443.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374450.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	441										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGGTGACCCCACTGCCAAGGT	0.622																																																	0													54.0	46.0	49.0					20																	33875260		2203	4300	6503	SO:0001583	missense	0			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1322T>G	20.37:g.33875260A>C	ENSP00000363529:p.Val441Gly		Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	pfam_DUF1669	p.V441G	ENST00000374408.3	37	c.1322	CCDS13251.1	20	.	.	.	.	.	.	.	.	.	.	A	10.22	1.291012	0.23564	.	.	ENSG00000125998	ENST00000374408	T	0.08720	3.06	4.81	2.52	0.30459	.	0.907308	0.09161	N	0.840243	T	0.08044	0.0201	L	0.50333	1.59	0.22171	N	0.999315	B	0.09022	0.002	B	0.04013	0.001	T	0.43360	-0.9396	10	0.18276	T	0.48	-3.3943	5.3744	0.16156	0.7135:0.1913:0.0952:0.0	.	441	Q9BQN1	FA83C_HUMAN	G	441	ENSP00000363529:V441G	ENSP00000363529:V441G	V	-	2	0	FAM83C	33338674	0.000000	0.05858	0.949000	0.38748	0.953000	0.61014	0.182000	0.16900	0.805000	0.34159	0.459000	0.35465	GTG	FAM83C	-	NULL	ENSG00000125998		0.622	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83C	HGNC	protein_coding	OTTHUMT00000078854.3	-	0.00	59	0	A			33875260	-1	tier1	-	no_errors	ENST00000374408	ensembl	human	known	74_37	missense	38.98	36	23	SNP	0.067	C
FAM83E	54854	genome.wustl.edu	37	19	49113185	49113185	+	Missense_Mutation	SNP	G	G	A	rs200129085	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:49113185G>A	ENST00000263266.3	-	3	895	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	236										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		AACTTCTCCCGCACGGTGCCG	0.667																																																	0													22.0	27.0	25.0					19																	49113185		2104	4215	6319	SO:0001583	missense	0			AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.706C>T	19.37:g.49113185G>A	ENSP00000263266:p.Arg236Trp		Q9NXK1	Missense_Mutation	SNP	pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase	p.R236W	ENST00000263266.3	37	c.706	CCDS42587.1	19	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561719	0.65538	.	.	ENSG00000105523	ENST00000263266	T	0.21734	1.99	4.66	2.11	0.27256	.	0.096945	0.47455	D	0.000225	T	0.34600	0.0903	M	0.63843	1.955	0.26992	N	0.965115	D	0.76494	0.999	P	0.60886	0.88	T	0.05435	-1.0885	10	0.66056	D	0.02	-24.7409	8.9588	0.35834	0.0:0.0:0.5161:0.4839	.	236	Q2M2I3	FA83E_HUMAN	W	236	ENSP00000263266:R236W	ENSP00000263266:R236W	R	-	1	2	FAM83E	53804997	0.934000	0.31675	0.247000	0.24249	0.891000	0.51852	1.014000	0.29950	1.058000	0.40530	0.555000	0.69702	CGG	FAM83E	-	pfam_DUF1669	ENSG00000105523		0.667	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83E	HGNC	protein_coding	OTTHUMT00000466145.1	-	0.00	77	0	G	NM_017708		49113185	-1	tier1	-	no_errors	ENST00000263266	ensembl	human	known	74_37	missense	34.48	38	20	SNP	0.882	A
FAM83G	644815	genome.wustl.edu	37	17	18891589	18891589	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:18891589G>A	ENST00000388995.6	-	3	884	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R221W|FAM83G_ENST00000585154.2_Missense_Mutation_p.R221W			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	221					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ATGCAGGCCCGCTCACACATG	0.567																																																	0													98.0	102.0	101.0					17																	18891589		2096	4225	6321	SO:0001583	missense	0			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.661C>T	17.37:g.18891589G>A	ENSP00000373647:p.Arg221Trp		Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	pfam_DUF1669	p.R221W	ENST00000388995.6	37	c.661	CCDS42276.1	17	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829902	0.32329	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	T;T	0.12984	2.63;2.63	5.29	4.26	0.50523	.	0.056249	0.64402	D	0.000003	T	0.25975	0.0633	M	0.65498	2.005	0.46725	D	0.999172	D	0.54772	0.968	P	0.52793	0.709	T	0.01326	-1.1384	10	0.87932	D	0	-38.2082	12.6507	0.56759	0.0:0.0:0.7102:0.2898	.	221	A6ND36	FA83G_HUMAN	W	221	ENSP00000373647:R221W;ENSP00000343279:R221W	ENSP00000343279:R221W	R	-	1	2	FAM83G	18832314	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	4.926000	0.63433	2.497000	0.84241	0.591000	0.81541	CGG	FAM83G	-	pfam_DUF1669	ENSG00000188522		0.567	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM83G	HGNC	protein_coding	OTTHUMT00000253108.4	-	0.00	53	0	G			18891589	-1	tier1	-	no_errors	ENST00000345041	ensembl	human	known	74_37	missense	31.82	30	14	SNP	1.000	A
FAM87A	157693	genome.wustl.edu	37	8	327602	327602	+	lincRNA	SNP	C	C	T	rs375023914	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:327602C>T	ENST00000330148.2	-	0	2859					NR_103537.1		P0C7U9	FA87A_HUMAN	family with sequence similarity 87, member A							integral component of membrane (GO:0016021)											gccaagccagcccgtctgctt	0.483																																																	0																																												0			BC037297		8p23.3	2013-02-15				ENSG00000182366		"""Long non-coding RNAs"""	27233	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_103537		Approved			P0C7U9			8.37:g.327602C>T				RNA	SNP	-	NULL	ENST00000330148.2	37	NULL		8																																																																																			FAM87A	-	-	ENSG00000182366		0.483	FAM87A-001	KNOWN	basic	lincRNA	FAM87A	HGNC	lincRNA	OTTHUMT00000384563.2		0.00	13	0	C			327602	-1			no_errors	ENST00000330148	ensembl	human	known	74_37	rna	32.00	17	8	SNP	0.002	T
FAM86B3P	286042	genome.wustl.edu	37	8	8098200	8098200	+	RNA	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:8098200A>G	ENST00000310542.3	+	0	310				ALG1L13P_ENST00000523017.1_RNA					family with sequence similarity 86, member B3, pseudogene																		CAGCAGCACCAGGCCACCCCT	0.572																																																	0																																												0					8p23.1	2013-06-10			ENSG00000173295	ENSG00000173295			44371	pseudogene	pseudogene							Standard	NR_024361		Approved		uc011kwt.2		OTTHUMG00000163669		8.37:g.8098200A>G				RNA	SNP	-	NULL	ENST00000310542.3	37	NULL		8																																																																																			FAM86B3P	-	-	ENSG00000173295		0.572	FAM86B3P-005	KNOWN	basic	processed_transcript	FAM86B3P	HGNC	pseudogene	OTTHUMT00000448496.1	-	0.00	75	0	A			8098200	+1	tier1	-	no_errors	ENST00000310542	ensembl	human	known	74_37	rna	16.81	94	19	SNP	0.001	G
FAM84B	157638	genome.wustl.edu	37	8	127568850	127568850	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:127568850C>T	ENST00000304916.3	-	2	1240	c.785G>A	c.(784-786)cGc>cAc	p.R262H	RP11-103H7.5_ENST00000524320.1_RNA|RP11-89K10.1_ENST00000517773.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA|RP11-89K10.1_ENST00000519880.1_RNA|FAM84B_ENST00000517458.1_5'Flank	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	262						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			CACGGCCGCGCGCCCGATCTG	0.706																																																	0													13.0	14.0	14.0					8																	127568850		2182	4248	6430	SO:0001583	missense	0			AJ417849	CCDS6358.1	8q24.13	2006-02-09				ENSG00000168672			24166	protein-coding gene	gene with protein product	"""breast cancer membrane-associated protein 101"", ""neurological/sensory 2"""	609483				12477722	Standard	NM_174911		Approved	BCMP101, NSE2	uc003yrz.2	Q96KN1		ENST00000304916.3:c.785G>A	8.37:g.127568850C>T	ENSP00000302578:p.Arg262His			Missense_Mutation	SNP	pfam_LRAT-like_dom	p.R262H	ENST00000304916.3	37	c.785	CCDS6358.1	8	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621330	0.66787	.	.	ENSG00000168672	ENST00000304916	T	0.03441	3.93	4.77	4.77	0.60923	.	0.250921	0.38778	N	0.001569	T	0.09247	0.0228	L	0.53249	1.67	0.36178	D	0.849191	D	0.71674	0.998	P	0.56088	0.791	T	0.02625	-1.1132	10	0.87932	D	0	-22.5672	8.8908	0.35432	0.0:0.8312:0.0:0.1688	.	262	Q96KN1	FA84B_HUMAN	H	262	ENSP00000302578:R262H	ENSP00000302578:R262H	R	-	2	0	FAM84B	127638032	0.942000	0.31987	0.976000	0.42696	0.782000	0.44232	1.307000	0.33516	2.473000	0.83533	0.456000	0.33151	CGC	FAM84B	-	NULL	ENSG00000168672		0.706	FAM84B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM84B	HGNC	protein_coding	OTTHUMT00000381487.1	-	0.00	93	0	C	NM_174911		127568850	-1	tier1	-	no_errors	ENST00000304916	ensembl	human	known	74_37	missense	20.24	67	17	SNP	0.994	T
FAM98A	25940	genome.wustl.edu	37	2	33810498	33810498	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:33810498C>A	ENST00000238823.8	-	8	1042	c.902G>T	c.(901-903)aGg>aTg	p.R301M	FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000441530.2_Missense_Mutation_p.R106M			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	302							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					GTCAGGCACCCTGCCCATCAA	0.438																																																	0													35.0	35.0	35.0					2																	33810498		2203	4300	6503	SO:0001583	missense	0				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.902G>T	2.37:g.33810498C>A	ENSP00000238823:p.Arg301Met		B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.R301M	ENST00000238823.8	37	c.902	CCDS33179.1	2	.	.	.	.	.	.	.	.	.	.	C	15.93	2.979519	0.53827	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000441530	T;T	0.50548	0.74;0.74	5.4	4.52	0.55395	.	0.239347	0.42682	D	0.000676	T	0.66665	0.2812	M	0.71296	2.17	0.58432	D	0.999999	D;D;D;D	0.89917	0.995;1.0;0.997;0.999	D;D;P;D	0.81914	0.993;0.995;0.873;0.954	T	0.69617	-0.5097	10	0.56958	D	0.05	-9.7997	14.0808	0.64919	0.0:0.9274:0.0:0.0726	.	302;132;301;139	Q8NCA5;B4DY25;Q8NCA5-2;B3KTW4	FA98A_HUMAN;.;.;.	M	301;302;106	ENSP00000238823:R301M;ENSP00000408716:R106M	ENSP00000238823:R301M	R	-	2	0	FAM98A	33664002	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.617000	0.67716	1.283000	0.44513	0.313000	0.20887	AGG	FAM98A	-	pfam_Uncharacterised_FAM98	ENSG00000119812		0.438	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	HGNC	protein_coding	OTTHUMT00000325457.2	-	0.00	25	0	C	NM_015475		33810498	-1	tier1	-	no_errors	ENST00000238823	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	A
FANCE	2178	genome.wustl.edu	37	6	35425714	35425715	+	Frame_Shift_Ins	INS	-	-	C	rs587778337		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:35425714_35425715insC	ENST00000229769.2	+	4	1107_1108	c.922_923insC	c.(922-924)gccfs	p.A308fs		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	308	Interaction with FANCC.				DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATTGGAGGATGCCCCCCCAGTT	0.54			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia E	6	6p21-p22	2178	"""Fanconi anemia, complementation group E"""		L	0										16,4248		0,16,2116						-5.8	0.0		dbSNP_130	75	14,8240		0,14,4113	no	frameshift	FANCE	NM_021922.2		0,30,6229	A1A1,A1R,RR		0.1696,0.3752,0.2397				30,12488				SO:0001589	frameshift_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF265210	CCDS4805.1	6p22-p21	2014-09-17			ENSG00000112039	ENSG00000112039		"""Fanconi anemia, complementation groups"""	3586	protein-coding gene	gene with protein product		613976		FACE		7662964, 11001585	Standard	XM_005248885		Approved	FAE	uc003oko.1	Q9HB96	OTTHUMG00000014565	ENST00000229769.2:c.929dupC	6.37:g.35425721_35425721dupC	ENSP00000229769:p.Ala308fs		A8K907|Q4ZGH2	Frame_Shift_Ins	INS	pfam_Fanconi_anaemia_gr_E_prot_C	p.V311fs	ENST00000229769.2	37	c.922_923	CCDS4805.1	6																																																																																			FANCE	-	pfam_Fanconi_anaemia_gr_E_prot_C	ENSG00000112039		0.540	FANCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCE	HGNC	protein_coding	OTTHUMT00000040282.1		0.00	47	0	-			35425715	+1	tier1		no_errors	ENST00000229769	ensembl	human	known	74_37	frame_shift_ins	25.45	41	14	INS	0.000:0.000	C
FANCF	2188	genome.wustl.edu	37	11	22646528	22646528	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:22646528G>A	ENST00000327470.3	-	1	859	c.829C>T	c.(829-831)Ctg>Ttg	p.L277L	AC103801.2_ENST00000428556.2_5'Flank	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	277					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.L277V(1)		kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						TCTGTTAGCAGACCCAGATAG	0.537			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											yes	Rec		Fanconi anaemia F	11	11p15	2188	"""Fanconi anemia, complementation group F"""		L	1	Substitution - Missense(1)	lung(1)											55.0	62.0	59.0					11																	22646528		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.829C>T	11.37:g.22646528G>A		757	Q52LM0	Silent	SNP	NULL	p.L277	ENST00000327470.3	37	c.829	CCDS7857.1	11																																																																																			FANCF	-	NULL	ENSG00000183161		0.537	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCF	HGNC	protein_coding	OTTHUMT00000387712.2	-	0.00	27	0	G	NM_022725		22646528	-1	tier1	-	no_errors	ENST00000327470	ensembl	human	known	74_37	silent	41.18	20	14	SNP	0.592	A
FANCM	57697	genome.wustl.edu	37	14	45645955	45645955	+	Frame_Shift_Del	DEL	A	A	-	rs143681767		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:45645955delA	ENST00000267430.5	+	14	4083	c.3998delA	c.(3997-3999)caafs	p.Q1333fs	FANCM_ENST00000542564.2_Frame_Shift_Del_p.Q1307fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1333					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTACCAGTGCAAAAAAAAGTT	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													52.0	51.0	51.0					14																	45645955		2202	4297	6499	SO:0001589	frameshift_variant	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3998delA	14.37:g.45645955delA	ENSP00000267430:p.Gln1333fs		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V1336fs	ENST00000267430.5	37	c.3998	CCDS32070.1	14																																																																																			FANCM	-	NULL	ENSG00000187790		0.328	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1		0.00	34	0	A	XM_048128		45645955	+1	tier1		no_errors	ENST00000267430	ensembl	human	known	74_37	frame_shift_del	31.11	31	14	DEL	0.008	-
FARP1	10160	genome.wustl.edu	37	13	99047581	99047581	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:99047581C>T	ENST00000319562.6	+	13	1530	c.1265C>T	c.(1264-1266)cCg>cTg	p.P422L	FARP1_ENST00000376586.2_Missense_Mutation_p.P422L|FARP1_ENST00000595437.1_Missense_Mutation_p.P422L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	422					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GCCGGGGAGCCGGGGTCGCAC	0.677																																																	0													17.0	24.0	22.0					13																	99047581		2199	4289	6488	SO:0001583	missense	0			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1265C>T	13.37:g.99047581C>T	ENSP00000322926:p.Pro422Leu		Q5JVI9|Q6IQ29	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.P422L	ENST00000319562.6	37	c.1265	CCDS9487.1	13	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809422	0.31961	.	.	ENSG00000152767	ENST00000376586;ENST00000376584;ENST00000319562	T;T	0.78816	-1.21;-1.02	4.8	1.01	0.19927	.	1.926330	0.02497	N	0.090116	T	0.67040	0.2851	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.49331	-0.8951	10	0.29301	T	0.29	.	9.3625	0.38203	0.0:0.6033:0.2548:0.1419	.	422;422	Q9Y4F1;C9JME2	FARP1_HUMAN;.	L	422;127;422	ENSP00000365771:P422L;ENSP00000322926:P422L	ENSP00000322926:P422L	P	+	2	0	FARP1	97845582	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	0.196000	0.17176	-0.141000	0.11374	0.462000	0.41574	CCG	FARP1	-	NULL	ENSG00000152767		0.677	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP1	HGNC	protein_coding	OTTHUMT00000045541.3	-	0.00	35	0	C	NM_005766		99047581	+1	tier1	-	no_errors	ENST00000376586	ensembl	human	known	74_37	missense	54.76	19	23	SNP	0.000	T
FASN	2194	genome.wustl.edu	37	17	80041180	80041180	+	Silent	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:80041180C>A	ENST00000306749.2	-	32	5681	c.5463G>T	c.(5461-5463)ggG>ggT	p.G1821G	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1821	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCCGTACCACCCCATCCCGGA	0.632																																					Colon(59;314 1043 11189 28578 32273)												0													82.0	76.0	78.0					17																	80041180		2200	4297	6497	SO:0001819	synonymous_variant	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5463G>T	17.37:g.80041180C>A			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.G1821	ENST00000306749.2	37	c.5463	CCDS11801.1	17																																																																																			FASN	-	smart_PKS_ER	ENSG00000169710		0.632	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	-	0.00	117	0	C	NM_004104		80041180	-1	tier1	-	no_errors	ENST00000306749	ensembl	human	known	74_37	silent	39.13	42	27	SNP	0.002	A
FASN	2194	genome.wustl.edu	37	17	80047566	80047566	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:80047566delG	ENST00000306749.2	-	12	2125	c.1907delC	c.(1906-1908)ccgfs	p.P636fs		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	636	Acyl and malonyl transferases. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CACCACGCCCGGGGGGCAGCG	0.687																																					Colon(59;314 1043 11189 28578 32273)												0													20.0	19.0	19.0					17																	80047566		2175	4275	6450	SO:0001589	frameshift_variant	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1907delC	17.37:g.80047566delG	ENSP00000304592:p.Pro636fs		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Frame_Shift_Del	DEL	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.P636fs	ENST00000306749.2	37	c.1907	CCDS11801.1	17																																																																																			FASN	-	pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase	ENSG00000169710		0.687	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1		0.00	89	0	G	NM_004104		80047566	-1	tier1		no_errors	ENST00000306749	ensembl	human	known	74_37	frame_shift_del	42.86	40	30	DEL	0.705	-
FASTKD5	60493	genome.wustl.edu	37	20	3128000	3128001	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:3128000_3128001insC	ENST00000380266.3	-	2	2037_2038	c.1716_1717insG	c.(1714-1719)gggcccfs	p.P573fs	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	573					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACGTACTGGGGCCCCCCCAGCA	0.436																																																	0									,,	6,4256		0,6,2125					,,	3.8	1.0			69	7,8247		0,7,4120	no	intron,frameshift,intron	UBOX5,FASTKD5	NM_199415.1,NM_021826.4,NM_014948.2	,,	0,13,6245	A1A1,A1R,RR		0.0848,0.1408,0.1039	,,	,,		13,12503				SO:0001589	frameshift_variant	0			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1717dupG	20.37:g.3128007_3128007dupC	ENSP00000369618:p.Pro573fs		Q96JN3|Q9H5D1|Q9H8Y3	Frame_Shift_Ins	INS	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.P572fs	ENST00000380266.3	37	c.1717_1716	CCDS13048.1	20																																																																																			FASTKD5	-	pfam_FAST_2	ENSG00000215251		0.436	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD5	HGNC	protein_coding	OTTHUMT00000077701.2		0.00	17	0	-	NM_021826		3128001	-1	tier1		no_errors	ENST00000380266	ensembl	human	known	74_37	frame_shift_ins	34.78	15	8	INS	1.000:0.997	C
FAT3	120114	genome.wustl.edu	37	11	92085985	92085985	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:92085985G>T	ENST00000298047.6	+	1	724	c.707G>T	c.(706-708)cGg>cTg	p.R236L	FAT3_ENST00000525166.1_Missense_Mutation_p.R86L|FAT3_ENST00000541502.1_Missense_Mutation_p.R236L|FAT3_ENST00000409404.2_Missense_Mutation_p.R236L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	236	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTGTGGACCGGGGAATGAAA	0.423										TCGA Ovarian(4;0.039)																																							0													158.0	150.0	152.0					11																	92085985		1893	4127	6020	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.707G>T	11.37:g.92085985G>T	ENSP00000298047:p.Arg236Leu		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R236L	ENST00000298047.6	37	c.707		11	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368166	0.82463	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.14	5.14	0.70334	.	.	.	.	.	T	0.66426	0.2788	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67511	-0.5652	9	0.56958	D	0.05	.	17.9557	0.89068	0.0:0.0:1.0:0.0	.	236	Q8TDW7-3	.	L	236;236;236;86	ENSP00000298047:R236L;ENSP00000387040:R236L;ENSP00000443786:R236L;ENSP00000432586:R86L	ENSP00000298047:R236L	R	+	2	0	FAT3	91725633	1.000000	0.71417	0.977000	0.42913	0.994000	0.84299	9.782000	0.99034	2.531000	0.85337	0.650000	0.86243	CGG	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.423	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	66	0	G	NM_001008781		92085985	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
FAT3	120114	genome.wustl.edu	37	11	92534013	92534013	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:92534013G>T	ENST00000298047.6	+	9	7851	c.7834G>T	c.(7834-7836)Gat>Tat	p.D2612Y	FAT3_ENST00000525166.1_Missense_Mutation_p.D2462Y|FAT3_ENST00000409404.2_Missense_Mutation_p.D2612Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2612	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTCAGGGCAGATGTTGGAAG	0.468										TCGA Ovarian(4;0.039)																																							0													56.0	55.0	55.0					11																	92534013		1972	4173	6145	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7834G>T	11.37:g.92534013G>T	ENSP00000298047:p.Asp2612Tyr		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D2612Y	ENST00000298047.6	37	c.7834		11	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435924	0.62955	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.53640	0.61;0.61;0.61	6.17	6.17	0.99709	.	.	.	.	.	T	0.71204	0.3312	M	0.76838	2.35	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	T	0.71510	-0.4571	9	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2612	Q8TDW7-3	.	Y	2612;2612;2462	ENSP00000298047:D2612Y;ENSP00000387040:D2612Y;ENSP00000432586:D2462Y	ENSP00000298047:D2612Y	D	+	1	0	FAT3	92173661	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	5.729000	0.68538	2.941000	0.99782	0.655000	0.94253	GAT	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165323		0.468	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	56	0	G	NM_001008781		92534013	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	50.00	26	26	SNP	0.998	T
FAT3	120114	genome.wustl.edu	37	11	92534496	92534496	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:92534496C>T	ENST00000298047.6	+	9	8334	c.8317C>T	c.(8317-8319)Cgt>Tgt	p.R2773C	FAT3_ENST00000525166.1_Missense_Mutation_p.R2623C|FAT3_ENST00000409404.2_Missense_Mutation_p.R2773C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2773	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACGCCTTGACCGTGAAACCAG	0.443										TCGA Ovarian(4;0.039)																																							0													74.0	72.0	72.0					11																	92534496		1912	4135	6047	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8317C>T	11.37:g.92534496C>T	ENSP00000298047:p.Arg2773Cys		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R2773C	ENST00000298047.6	37	c.8317		11	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980459	0.53827	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.66099	-0.19;-0.19;-0.19	5.98	5.98	0.97165	.	.	.	.	.	T	0.76905	0.4053	M	0.88775	2.98	0.80722	D	1	D	0.65815	0.995	P	0.48795	0.59	T	0.81707	-0.0810	9	0.87932	D	0	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	2773	Q8TDW7-3	.	C	2773;2773;2623	ENSP00000298047:R2773C;ENSP00000387040:R2773C;ENSP00000432586:R2623C	ENSP00000298047:R2773C	R	+	1	0	FAT3	92174144	0.983000	0.35010	0.968000	0.41197	0.736000	0.42039	3.156000	0.50708	2.837000	0.97791	0.591000	0.81541	CGT	FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.443	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	52	0	C	NM_001008781		92534496	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	34.00	33	17	SNP	1.000	T
FAT3	120114	genome.wustl.edu	37	11	92577336	92577336	+	Silent	SNP	C	C	T	rs571074322		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:92577336C>T	ENST00000298047.6	+	18	10820	c.10803C>T	c.(10801-10803)caC>caT	p.H3601H	FAT3_ENST00000533797.1_5'Flank|FAT3_ENST00000525166.1_Silent_p.H3451H|FAT3_ENST00000409404.2_Silent_p.H3601H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3601	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAACAGTCACGATGGGAAAA	0.488										TCGA Ovarian(4;0.039)																																							0													183.0	189.0	187.0					11																	92577336		2065	4216	6281	SO:0001819	synonymous_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10803C>T	11.37:g.92577336C>T			B5MDB0|Q96AU6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.H3601	ENST00000298047.6	37	c.10803		11																																																																																			FAT3	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165323		0.488	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	94	0	C	NM_001008781		92577336	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	silent	46.67	31	28	SNP	0.067	T
FAT3	120114	genome.wustl.edu	37	11	92600024	92600024	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:92600024C>T	ENST00000298047.6	+	21	11793	c.11776C>T	c.(11776-11778)Cgc>Tgc	p.R3926C	FAT3_ENST00000533797.1_Missense_Mutation_p.R261C|FAT3_ENST00000525166.1_Missense_Mutation_p.R3776C|FAT3_ENST00000409404.2_Missense_Mutation_p.R3926C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3926	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGAGCTCAACCGCAATTTCAC	0.632										TCGA Ovarian(4;0.039)																																							0													35.0	40.0	38.0					11																	92600024		1982	4150	6132	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11776C>T	11.37:g.92600024C>T	ENSP00000298047:p.Arg3926Cys		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.R3926C	ENST00000298047.6	37	c.11776		11	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224217	0.79576	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.84	4.92	0.64577	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.82351	0.5018	L	0.54323	1.7	0.80722	D	1	D;D	0.71674	0.998;0.991	P;P	0.55824	0.785;0.773	D	0.84272	0.0489	9	0.66056	D	0.02	.	15.4106	0.74914	0.0:0.7372:0.2628:0.0	.	3926;3926	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	C	3926;3926;3776;261	ENSP00000298047:R3926C;ENSP00000387040:R3926C;ENSP00000432586:R3776C;ENSP00000436399:R261C	ENSP00000298047:R3926C	R	+	1	0	FAT3	92239672	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	3.538000	0.53597	1.467000	0.48044	0.561000	0.74099	CGC	FAT3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000165323		0.632	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	75	0	C	NM_001008781		92600024	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	missense	43.48	39	30	SNP	0.994	T
FAT4	79633	genome.wustl.edu	37	4	126408620	126408620	+	Nonsense_Mutation	SNP	G	G	T	rs142123629		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:126408620G>T	ENST00000394329.3	+	16	12950	c.12937G>T	c.(12937-12939)Gga>Tga	p.G4313*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.G2554*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4313	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G4313R(1)|p.G4256R(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGGAAAAATGGAACAGCAAC	0.413																																																	2	Substitution - Missense(2)	skin(2)											85.0	86.0	85.0					4																	126408620		2203	4300	6503	SO:0001587	stop_gained	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12937G>T	4.37:g.126408620G>T	ENSP00000377862:p.Gly4313*		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G4313*	ENST00000394329.3	37	c.12937	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	53	21.131654	0.99937	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	.	.	.	5.26	3.43	0.39272	.	0.000000	0.33938	U	0.004417	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	8.747	0.34591	0.0786:0.0:0.7713:0.1501	.	.	.	.	X	4313;2554	.	ENSP00000335169:G2554X	G	+	1	0	FAT4	126628070	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	2.176000	0.42500	1.217000	0.43442	0.650000	0.86243	GGA	FAT4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000196159		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2		0.00	43	0	G	NM_024582		126408620	+1			no_errors	ENST00000394329	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	1.000	T
FBN2	2201	genome.wustl.edu	37	5	127607801	127607801	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:127607801T>C	ENST00000508053.1	-	68	8824	c.7850A>G	c.(7849-7851)gAa>gGa	p.E2617G	FBN2_ENST00000262464.4_Missense_Mutation_p.E2617G			P35556	FBN2_HUMAN	fibrillin 2	2617	EGF-like 45; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCCATCACATTCATCAACATC	0.478																																																	0													101.0	88.0	93.0					5																	127607801		2203	4300	6503	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.7850A>G	5.37:g.127607801T>C	ENSP00000424571:p.Glu2617Gly		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.E2617G	ENST00000508053.1	37	c.7850	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	T	26.9	4.780872	0.90195	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.98849	-5.18;-5.18	4.98	4.98	0.66077	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000012	D	0.99184	0.9717	M	0.89030	3	0.58432	D	0.999998	D	0.76494	0.999	D	0.81914	0.995	D	0.99316	1.0905	10	0.87932	D	0	.	15.1274	0.72494	0.0:0.0:0.0:1.0	.	2617	P35556	FBN2_HUMAN	G	2617	ENSP00000262464:E2617G;ENSP00000424571:E2617G	ENSP00000262464:E2617G	E	-	2	0	FBN2	127635700	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.825000	0.86693	2.216000	0.71823	0.533000	0.62120	GAA	FBN2	-	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000138829		0.478	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0.00	48	0	T	NM_001999		127607801	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	56.00	22	28	SNP	1.000	C
FBN2	2201	genome.wustl.edu	37	5	127638705	127638705	+	Silent	SNP	G	G	A	rs528504682		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:127638705G>A	ENST00000508053.1	-	52	6851	c.5877C>T	c.(5875-5877)tgC>tgT	p.C1959C	FBN2_ENST00000262464.4_Silent_p.C1959C			P35556	FBN2_HUMAN	fibrillin 2	1959	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACCCTGGGTAGCACAGACAGT	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15652	0.0		0.0	False		,,,				2504	0.0																0													144.0	151.0	149.0					5																	127638705		2203	4300	6503	SO:0001819	synonymous_variant	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5877C>T	5.37:g.127638705G>A			B4DU01|Q59ES6	Silent	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.C1959	ENST00000508053.1	37	c.5877	CCDS34222.1	5																																																																																			FBN2	-	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000138829		0.388	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0.00	44	0	G	NM_001999		127638705	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	silent	55.56	24	30	SNP	1.000	A
FBN2	2201	genome.wustl.edu	37	5	127873215	127873215	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:127873215C>T	ENST00000508053.1	-	7	1056	c.82G>A	c.(82-84)Ggc>Agc	p.G28S	FBN2_ENST00000262464.4_Missense_Mutation_p.G28S|FBN2_ENST00000508989.1_Missense_Mutation_p.G28S			P35556	FBN2_HUMAN	fibrillin 2	28					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGAGGCTGGCCGGCCGTGCCC	0.711																																																	0													12.0	13.0	13.0					5																	127873215		2145	4217	6362	SO:0001583	missense	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.82G>A	5.37:g.127873215C>T	ENSP00000424571:p.Gly28Ser		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G28S	ENST00000508053.1	37	c.82	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762388	0.49468	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989;ENST00000502468	D;D;D;T	0.86562	-1.84;-1.84;-2.14;-0.68	4.77	0.862	0.19056	.	0.687434	0.13026	N	0.419661	T	0.70369	0.3216	N	0.08118	0	0.21220	N	0.99975	B;B;B;B	0.10296	0.001;0.001;0.003;0.002	B;B;B;B	0.09377	0.002;0.001;0.002;0.004	T	0.53514	-0.8428	10	0.14252	T	0.57	.	9.1831	0.37154	0.0:0.5932:0.0:0.4068	.	28;28;28;28	P35556-2;E9PHW4;D6RJI3;P35556	.;.;.;FBN2_HUMAN	S	28	ENSP00000262464:G28S;ENSP00000424571:G28S;ENSP00000425596:G28S;ENSP00000424753:G28S	ENSP00000262464:G28S	G	-	1	0	FBN2	127901114	0.018000	0.18449	0.288000	0.24862	0.994000	0.84299	0.105000	0.15333	0.172000	0.19760	0.591000	0.81541	GGC	FBN2	-	pirsf_FBN	ENSG00000138829		0.711	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	-	0.00	24	0	C	NM_001999		127873215	-1	tier1	-	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	52.38	10	11	SNP	0.089	T
FBN3	84467	genome.wustl.edu	37	19	8153004	8153004	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:8153004C>T	ENST00000600128.1	-	52	6850	c.6436G>A	c.(6436-6438)Gga>Aga	p.G2146R	FBN3_ENST00000270509.2_Missense_Mutation_p.G2146R|FBN3_ENST00000601739.1_Missense_Mutation_p.G2146R			Q75N90	FBN3_HUMAN	fibrillin 3	2146	EGF-like 34; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TCGAAGCCTCCGATGACATTG	0.617																																																	0													114.0	92.0	100.0					19																	8153004		2203	4300	6503	SO:0001583	missense	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6436G>A	19.37:g.8153004C>T	ENSP00000470498:p.Gly2146Arg		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.G2146R	ENST00000600128.1	37	c.6436	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075964	0.36662	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.99557	-6.16	4.03	4.03	0.46877	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.99245	0.9737	M	0.89904	3.07	0.80722	D	1	P	0.37398	0.593	B	0.38194	0.267	D	0.99929	1.1309	10	0.87932	D	0	.	16.1281	0.81408	0.0:1.0:0.0:0.0	.	2146	Q75N90	FBN3_HUMAN	R	2146;252	ENSP00000270509:G2146R	ENSP00000270509:G2146R	G	-	1	0	FBN3	8059004	1.000000	0.71417	0.078000	0.20375	0.017000	0.09413	5.486000	0.66856	1.951000	0.56629	0.313000	0.20887	GGA	FBN3	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom	ENSG00000142449		0.617	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	-	0.00	68	0	C	NM_032447		8153004	-1	tier1	-	no_errors	ENST00000270509	ensembl	human	known	74_37	missense	35.19	35	19	SNP	1.000	T
FBRS	64319	genome.wustl.edu	37	16	30675549	30675549	+	5'Flank	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:30675549delC	ENST00000287468.5	+	0	0				FBRS_ENST00000568722.1_Intron|FBRS_ENST00000356166.6_Frame_Shift_Del_p.P358fs|FBRS_ENST00000482749.1_3'UTR|FBRS_ENST00000395073.2_5'Flank	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin											ovary(1)	1			Colorectal(24;0.103)			TTCACGGCCGCCCCCCAAGGC	0.672																																																	0																																										SO:0001631	upstream_gene_variant	0			AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390		16.37:g.30675549delC	Exception_encountered		B4DP86|Q96CI9|Q9H9X4	Frame_Shift_Del	DEL	prints_AUTS2	p.K359fs	ENST00000287468.5	37	c.1069		16																																																																																			FBRS	-	NULL	ENSG00000156860		0.672	FBRS-201	KNOWN	basic|appris_principal	protein_coding	FBRS	HGNC	protein_coding			0.00	53	0	C	NM_022452		30675549	+1	tier1		no_errors	ENST00000356166	ensembl	human	known	74_37	frame_shift_del	22.22	28	8	DEL	1.000	-
FBRS	64319	genome.wustl.edu	37	16	30680769	30680769	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:30680769T>C	ENST00000287468.5	+	12	1449	c.1186T>C	c.(1186-1188)Tac>Cac	p.Y396H	FBRS_ENST00000568722.1_Missense_Mutation_p.Y308H|FBRS_ENST00000356166.6_Missense_Mutation_p.Y916H|FBRS_ENST00000395073.2_Missense_Mutation_p.Y308H	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	396	Pro-rich.									ovary(1)	1			Colorectal(24;0.103)			TGCCCGCCTCTACGGTCTGGA	0.682																																																	0													59.0	74.0	69.0					16																	30680769		2190	4291	6481	SO:0001583	missense	0			AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.1186T>C	16.37:g.30680769T>C	ENSP00000287468:p.Tyr396His		B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	prints_AUTS2	p.Y916H	ENST00000287468.5	37	c.2746		16	.	.	.	.	.	.	.	.	.	.	T	11.58	1.681358	0.29872	.	.	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.37752	1.18	5.09	5.09	0.68999	.	0.184564	0.36134	N	0.002780	T	0.41581	0.1165	L	0.29908	0.895	0.33966	D	0.6462	D	0.64830	0.994	P	0.59889	0.865	T	0.48736	-0.9009	10	0.22706	T	0.39	-2.482	13.9913	0.64369	0.0:0.0:0.0:1.0	.	396	Q9HAH7	FBRS_HUMAN	H	916;396;308	ENSP00000348489:Y916H	ENSP00000287468:Y396H	Y	+	1	0	FBRS	30588270	1.000000	0.71417	0.977000	0.42913	0.950000	0.60333	2.915000	0.48805	2.146000	0.66826	0.459000	0.35465	TAC	FBRS	-	NULL	ENSG00000156860		0.682	FBRS-201	KNOWN	basic|appris_principal	protein_coding	FBRS	HGNC	protein_coding		-	0.00	47	0	T	NM_022452		30680769	+1	tier1	-	no_errors	ENST00000356166	ensembl	human	known	74_37	missense	31.11	31	14	SNP	0.994	C
FBXO18	84893	genome.wustl.edu	37	10	5957464	5957464	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:5957464G>T	ENST00000362091.4	+	9	1610	c.1495G>T	c.(1495-1497)Gaa>Taa	p.E499*	FBXO18_ENST00000379999.5_Nonsense_Mutation_p.E550*|FBXO18_ENST00000397269.3_5'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	499					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AAAGCAGGCCGAACGCGTCTT	0.532																																																	0													158.0	104.0	122.0					10																	5957464		2203	4300	6503	SO:0001587	stop_gained	0			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.1495G>T	10.37:g.5957464G>T	ENSP00000355415:p.Glu499*		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Nonsense_Mutation	SNP	pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom	p.E550*	ENST00000362091.4	37	c.1648	CCDS7072.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.390810	0.97529	.	.	ENSG00000134452	ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	.	.	.	5.26	4.34	0.51931	.	0.431173	0.27797	N	0.017808	.	.	.	.	.	.	0.21445	N	0.999682	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-28.9415	8.7843	0.34811	0.1752:0.0:0.8248:0.0	.	.	.	.	X	499;236;550;236	.	ENSP00000355415:E499X	E	+	1	0	FBXO18	5997470	0.036000	0.19791	0.820000	0.32676	0.919000	0.55068	1.693000	0.37742	2.625000	0.88918	0.555000	0.69702	GAA	FBXO18	-	superfamily_P-loop_NTPase	ENSG00000134452		0.532	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1		0.00	53	0	G	NM_032807		5957464	+1			no_errors	ENST00000379999	ensembl	human	known	74_37	nonsense	5.08	56	3	SNP	0.004	T
FBXO25	26260	genome.wustl.edu	37	8	382898	382898	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:382898delA	ENST00000276326.5	+	4	370	c.251delA	c.(250-252)gaafs	p.E84fs	FBXO25_ENST00000350302.3_Frame_Shift_Del_p.E84fs|FBXO25_ENST00000382824.1_Intron|FBXO25_ENST00000352684.2_Intron	NM_183421.1	NP_904357.1	Q8TCJ0	FBX25_HUMAN	F-box protein 25	84					protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TTTTATCGTGAAAAATGGATC	0.259																																																	0													31.0	31.0	31.0					8																	382898		2184	4264	6448	SO:0001589	frameshift_variant	0			AF174605	CCDS5952.1, CCDS5953.1, CCDS5954.1	8p23.3	2007-03-30	2004-06-15		ENSG00000147364	ENSG00000147364		"""F-boxes /  ""other"""""	13596	protein-coding gene	gene with protein product		609098	"""F-box only protein 25"""			10531035, 10531037	Standard	NM_012173		Approved	FBX25	uc003wox.3	Q8TCJ0	OTTHUMG00000090341	ENST00000276326.5:c.251delA	8.37:g.382898delA	ENSP00000276326:p.Glu84fs		Q6PJ83|Q7Z4V4|Q9UKB8	Frame_Shift_Del	DEL	superfamily_F-box_dom	p.K85fs	ENST00000276326.5	37	c.251	CCDS5953.1	8																																																																																			FBXO25	-	NULL	ENSG00000147364		0.259	FBXO25-001	KNOWN	basic|CCDS	protein_coding	FBXO25	HGNC	protein_coding	OTTHUMT00000206710.2		0.00	122	0	A	NM_012173		382898	+1	tier1		no_errors	ENST00000276326	ensembl	human	known	74_37	frame_shift_del	20.62	154	40	DEL	1.000	-
FBXO43	286151	genome.wustl.edu	37	8	101153207	101153207	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:101153207A>G	ENST00000428847.2	-	2	1591	c.1275T>C	c.(1273-1275)gaT>gaC	p.D425D		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	425					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CCCCACTCTCATCACTACTCA	0.453																																																	0													115.0	112.0	113.0					8																	101153207		1953	4167	6120	SO:0001819	synonymous_variant	0			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1275T>C	8.37:g.101153207A>G				Silent	SNP	pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC	p.D425	ENST00000428847.2	37	c.1275	CCDS47904.1	8																																																																																			FBXO43	-	NULL	ENSG00000156509		0.453	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	HGNC	protein_coding	OTTHUMT00000380380.1	-	0.00	49	0	A	XM_209918		101153207	-1	tier1	-	no_errors	ENST00000428847	ensembl	human	known	74_37	silent	34.33	44	23	SNP	0.000	G
FBXO46	23403	genome.wustl.edu	37	19	46215043	46215043	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:46215043G>A	ENST00000317683.3	-	2	1844	c.1711C>T	c.(1711-1713)Cgc>Tgc	p.R571C		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	571										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGAGTCTCGCGGTCGGCTCGA	0.701																																																	0													21.0	27.0	25.0					19																	46215043		2045	4183	6228	SO:0001583	missense	0			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1711C>T	19.37:g.46215043G>A	ENSP00000410007:p.Arg571Cys			Missense_Mutation	SNP	superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.R571C	ENST00000317683.3	37	c.1711	CCDS46116.1	19	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506713	0.26949	.	.	ENSG00000177051	ENST00000317683	T	0.21191	2.02	4.56	0.846	0.18955	F-box domain, Skp2-like (1);	.	.	.	.	T	0.27027	0.0662	N	0.22421	0.69	0.09310	N	0.99999	D	0.89917	1.0	P	0.62184	0.899	T	0.19943	-1.0290	9	0.87932	D	0	-17.8003	10.9847	0.47516	0.0:0.0:0.3865:0.6135	.	571	Q6PJ61	FBX46_HUMAN	C	571	ENSP00000410007:R571C	ENSP00000410007:R571C	R	-	1	0	FBXO46	50906883	0.984000	0.35163	0.001000	0.08648	0.744000	0.42396	4.454000	0.60068	0.608000	0.30000	0.467000	0.42956	CGC	FBXO46	-	superfamily_F-box_dom	ENSG00000177051		0.701	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1	-	0.00	93	0	G	XM_371179		46215043	-1	tier1	-	no_errors	ENST00000317683	ensembl	human	known	74_37	missense	46.97	35	31	SNP	0.016	A
FBXO46	23403	genome.wustl.edu	37	19	46215926	46215926	+	Silent	SNP	G	G	A	rs374381361		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:46215926G>A	ENST00000317683.3	-	2	961	c.828C>T	c.(826-828)agC>agT	p.S276S		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	276										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TGGGCAGGCCGCTGTCTGGTG	0.701													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13106	0.0		0.0	False		,,,				2504	0.0																0								G		0,3870		0,0,1935	19.0	23.0	22.0		828	0.7	0.0	19		22	1,8215		0,1,4107	no	coding-synonymous	FBXO46	NM_001080469.1		0,1,6042	AA,AG,GG		0.0122,0.0,0.0083		276/604	46215926	1,12085	1935	4108	6043	SO:0001819	synonymous_variant	0			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.828C>T	19.37:g.46215926G>A				Silent	SNP	superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom	p.S276	ENST00000317683.3	37	c.828	CCDS46116.1	19																																																																																			FBXO46	-	NULL	ENSG00000177051		0.701	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1		0.00	11	0	G	XM_371179		46215926	-1			no_errors	ENST00000317683	ensembl	human	known	74_37	silent	66.67	2	4	SNP	0.988	A
FBXO6	26270	genome.wustl.edu	37	1	11733420	11733420	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:11733420A>G	ENST00000376753.4	+	5	731	c.596A>G	c.(595-597)gAg>gGg	p.E199G		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	199	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|proteolysis (GO:0006508)|response to unfolded protein (GO:0006986)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCCTTCGAGCCCCCACCT	0.597																																					NSCLC(54;506 1562 46490 51389)												0													77.0	64.0	68.0					1																	11733420		2203	4300	6503	SO:0001583	missense	0			AF129536	CCDS133.1	1p36.22	2008-05-14	2004-06-15		ENSG00000116663	ENSG00000116663		"""F-boxes /  ""other"""""	13585	protein-coding gene	gene with protein product		605647	"""F-box only protein 6"""			10531035, 10945468	Standard	NM_018438		Approved	FBX6, FBG2, FBS2, Fbx6b	uc001aso.3	Q9NRD1	OTTHUMG00000002229	ENST00000376753.4:c.596A>G	1.37:g.11733420A>G	ENSP00000365944:p.Glu199Gly		B1AK42|B2RC88|Q9UKT3	Missense_Mutation	SNP	pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_Galactose-bd-like,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom	p.E199G	ENST00000376753.4	37	c.596	CCDS133.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.31|11.31	1.601377|1.601377	0.28534|0.28534	.|.	.|.	ENSG00000116663|ENSG00000116663	ENST00000376753|ENST00000449067	T|.	0.32753|.	1.44|.	5.59|5.59	4.47|4.47	0.54385|0.54385	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);|.	0.607539|.	0.18948|.	N|.	0.126744|.	T|T	0.53254|0.53254	0.1785|0.1785	M|M	0.72118|0.72118	2.19|2.19	0.28780|0.28780	N|N	0.899895|0.899895	P|.	0.36086|.	0.536|.	B|.	0.40256|.	0.324|.	T|T	0.52109|0.52109	-0.8619|-0.8619	10|5	0.35671|.	T|.	0.21|.	.|.	7.128|7.128	0.25484|0.25484	0.8245:0.0:0.1755:0.0|0.8245:0.0:0.1755:0.0	.|.	199|.	Q9NRD1|.	FBX6_HUMAN|.	G|G	199|155	ENSP00000365944:E199G|.	ENSP00000365944:E199G|.	E|S	+|+	2|1	0|0	FBXO6|FBXO6	11656007|11656007	0.974000|0.974000	0.33945|0.33945	1.000000|1.000000	0.80357|0.80357	0.364000|0.364000	0.29643|0.29643	1.960000|1.960000	0.40422|0.40422	0.964000|0.964000	0.38108|0.38108	0.379000|0.379000	0.24179|0.24179	GAG|AGC	FBXO6	-	pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom	ENSG00000116663		0.597	FBXO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO6	HGNC	protein_coding	OTTHUMT00000006332.1	-	0.00	57	0	A	NM_018438		11733420	+1	tier1	-	no_errors	ENST00000376753	ensembl	human	known	74_37	missense	30.56	24	11	SNP	0.994	G
FBXW10	10517	genome.wustl.edu	37	17	18681823	18681823	+	Missense_Mutation	SNP	T	T	A	rs556103426		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:18681823T>A	ENST00000395665.4	+	14	2592	c.2371T>A	c.(2371-2373)Ttg>Atg	p.L791M	FBXW10_ENST00000308799.4_Missense_Mutation_p.L800M|TVP23B_ENST00000574226.1_5'Flank|TVP23B_ENST00000307767.8_5'Flank|FBXW10_ENST00000395667.1_Missense_Mutation_p.L790M|TVP23B_ENST00000476139.1_5'Flank|FBXW10_ENST00000301938.4_Missense_Mutation_p.L738M			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	791										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						ACAAGGACAATTGGAAACTCC	0.388																																																	0													45.0	40.0	42.0					17																	18681823		2200	4298	6498	SO:0001583	missense	0			BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2371T>A	17.37:g.18681823T>A	ENSP00000379025:p.Leu791Met		C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L800M	ENST00000395665.4	37	c.2398	CCDS11199.3	17	.	.	.	.	.	.	.	.	.	.	T	11.30	1.598049	0.28445	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.61859	0.16;0.32;0.07;0.23	4.04	-4.66	0.03329	.	0.858235	0.09076	N	0.852005	T	0.35068	0.0919	L	0.41236	1.265	0.09310	N	1	B;B;B;B	0.28850	0.102;0.225;0.062;0.114	B;B;B;B	0.21151	0.033;0.032;0.015;0.032	T	0.21759	-1.0236	10	0.33940	T	0.23	.	0.377	0.00389	0.3411:0.2407:0.2126:0.2056	.	738;800;791;790	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	M	790;800;738;791	ENSP00000379026:L790M;ENSP00000310382:L800M;ENSP00000306937:L738M;ENSP00000379025:L791M	ENSP00000306937:L738M	L	+	1	2	FBXW10	18622548	0.000000	0.05858	0.000000	0.03702	0.164000	0.22412	-2.406000	0.01044	-0.612000	0.05701	-0.526000	0.04340	TTG	FBXW10	-	NULL	ENSG00000171931		0.388	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	HGNC	protein_coding	OTTHUMT00000313531.2	-	0.00	93	0	T	NM_031456		18681823	+1	tier1	-	no_errors	ENST00000308799	ensembl	human	known	74_37	missense	37.86	64	39	SNP	0.000	A
FBXW5	54461	genome.wustl.edu	37	9	139836708	139836708	+	Missense_Mutation	SNP	C	C	T	rs561473224		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139836708C>T	ENST00000325285.3	-	6	965	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	296					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TTGGCGTGGGCGGGGGCCGGG	0.706													C|||	1	0.000199681	0.0	0.0	5008	,	,		14894	0.0		0.001	False		,,,				2504	0.0																0													9.0	12.0	11.0					9																	139836708		2155	4240	6395	SO:0001583	missense	0			BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.886G>A	9.37:g.139836708C>T	ENSP00000313034:p.Ala296Thr		B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A296T	ENST00000325285.3	37	c.886	CCDS7014.1	9	.	.	.	.	.	.	.	.	.	.	C	1.429	-0.570796	0.03910	.	.	ENSG00000159069	ENST00000325285;ENST00000433269	T;T	0.74842	-0.88;0.92	4.59	0.364	0.16124	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);	1.949570	0.02321	N	0.072989	T	0.54581	0.1867	N	0.22421	0.69	0.09310	N	1	B;B	0.27700	0.186;0.103	B;B	0.14578	0.011;0.01	T	0.35301	-0.9794	10	0.10902	T	0.67	-12.5561	3.0573	0.06188	0.1229:0.451:0.2661:0.16	.	161;296	Q59ET5;Q969U6	.;FBXW5_HUMAN	T	296;131	ENSP00000313034:A296T;ENSP00000409102:A131T	ENSP00000313034:A296T	A	-	1	0	FBXW5	138956529	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	0.445000	0.21677	0.177000	0.19895	0.555000	0.69702	GCC	FBXW5	-	superfamily_Quinoprot_gluc/sorb_DH	ENSG00000159069		0.706	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW5	HGNC	protein_coding	OTTHUMT00000055227.1	-	0.00	66	0	C	NM_018998		139836708	-1	tier1	-	no_errors	ENST00000325285	ensembl	human	known	74_37	missense	45.10	28	23	SNP	0.000	T
FBXW7	55294	genome.wustl.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	A	rs149680468		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:153247289G>A	ENST00000281708.4	-	10	2742	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C	FBXW7_ENST00000263981.5_Missense_Mutation_p.R425C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	139	Substitution - Missense(138)|Unknown(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)											167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>T	4.37:g.153247289G>A	ENSP00000281708:p.Arg505Cys		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R505C	ENST00000281708.4	37	c.1513	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722220	0.68959	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	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	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	505;387;425;329	ENSP00000281708:R505C;ENSP00000296555:R387C;ENSP00000263981:R425C;ENSP00000377528:R329C	ENSP00000263981:R425C	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000109670		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	-	0.00	46	0	G			153247289	-1	tier1	rs149680468	no_errors	ENST00000281708	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	A
FCGBP	8857	genome.wustl.edu	37	19	40395898	40395898	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:40395898G>A	ENST00000221347.6	-	15	7506	c.7499C>T	c.(7498-7500)gCc>gTc	p.A2500V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2500	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATTACCCCAGGCCACGTTCTC	0.627																																																	0													151.0	130.0	138.0					19																	40395898		2166	3937	6103	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7499C>T	19.37:g.40395898G>A	ENSP00000221347:p.Ala2500Val		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.A2500V	ENST00000221347.6	37	c.7499	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174333	0.38413	.	.	ENSG00000090920	ENST00000221347	T	0.59224	0.28	2.05	2.05	0.26809	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.50463	0.1617	L	0.35644	1.08	0.09310	N	0.999999	B	0.29188	0.236	B	0.41174	0.349	T	0.46775	-0.9167	9	0.30078	T	0.28	.	6.83	0.23905	0.1537:0.0:0.8463:0.0	.	2500	Q9Y6R7	FCGBP_HUMAN	V	2500	ENSP00000221347:A2500V	ENSP00000221347:A2500V	A	-	2	0	FCGBP	45087738	0.000000	0.05858	0.672000	0.29872	0.693000	0.40251	0.137000	0.15995	1.465000	0.48006	0.298000	0.19748	GCC	FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0.00	183	0	G	NM_003890		40395898	-1	tier1	-	no_errors	ENST00000221347	ensembl	human	known	74_37	missense	22.76	95	28	SNP	0.288	A
FCGBP	8857	genome.wustl.edu	37	19	40421199	40421199	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:40421199C>T	ENST00000221347.6	-	5	2729	c.2722G>A	c.(2722-2724)Gaa>Aaa	p.E908K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	908	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCTCGTTTTCCACCAGCACC	0.701																																																	0													24.0	24.0	24.0					19																	40421199		2203	4299	6502	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2722G>A	19.37:g.40421199C>T	ENSP00000221347:p.Glu908Lys		O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.E908K	ENST00000221347.6	37	c.2722	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046292	0.75846	.	.	ENSG00000090920	ENST00000221347	T	0.56275	0.47	4.83	4.83	0.62350	von Willebrand factor, type D domain (3);	0.186821	0.34362	N	0.004033	T	0.50000	0.1590	N	0.13235	0.315	0.28786	N	0.899562	D	0.63880	0.993	D	0.71414	0.973	T	0.37384	-0.9708	10	0.07644	T	0.81	.	13.4849	0.61359	0.0:0.8417:0.1583:0.0	.	908	Q9Y6R7	FCGBP_HUMAN	K	908	ENSP00000221347:E908K	ENSP00000221347:E908K	E	-	1	0	FCGBP	45113039	0.669000	0.27502	0.995000	0.50966	0.964000	0.63967	1.050000	0.30404	2.391000	0.81399	0.491000	0.48974	GAA	FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.701	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	-	0.00	65	0	C	NM_003890		40421199	-1	tier1	-	no_errors	ENST00000221347	ensembl	human	known	74_37	missense	44.19	24	19	SNP	1.000	T
FCRL3	115352	genome.wustl.edu	37	1	157660325	157660325	+	Splice_Site	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:157660325T>C	ENST00000368184.3	-	9	1703		c.e9-2		RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_Splice_Site|FCRL3_ENST00000368186.5_Splice_Site	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ACACCGGAACTGAGGGAGGAA	0.537																																																	1	Unknown(1)	lung(1)											33.0	37.0	36.0					1																	157660325		2203	4297	6500	SO:0001630	splice_region_variant	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1412-2A>G	1.37:g.157660325T>C			A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Splice_Site	SNP	-	e8-2	ENST00000368184.3	37	c.1430-2	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	T	5.348	0.249466	0.10130	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	.	.	.	4.47	3.32	0.38043	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.922	0.29852	0.0:0.0:0.2094:0.7906	.	.	.	.	.	-1	.	.	.	-	.	.	FCRL3	155926949	0.982000	0.34865	0.842000	0.33263	0.077000	0.17291	2.086000	0.41643	0.733000	0.32492	0.533000	0.62120	.	FCRL3	-	-	ENSG00000160856		0.537	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	-	0.00	29	0	T	NM_052939	Intron	157660325	-1	tier1	-	no_errors	ENST00000492769	ensembl	human	known	74_37	splice_site	38.10	13	8	SNP	0.871	C
FCGR3A	2214	genome.wustl.edu	37	1	161594337	161594337	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:161594337C>T	ENST00000540048.1	-	2	94				FCGR3B_ENST00000531221.1_Missense_Mutation_p.G260R|FCGR3B_ENST00000367964.2_Missense_Mutation_p.G224R|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000294800.3_Missense_Mutation_p.G224R			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AAATATAGTCCTGTGTCCACT	0.448																																																	0													109.0	117.0	114.0					1																	161594337		2190	4299	6489	SO:0001627	intron_variant	0			BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+5820G>A	1.37:g.161594337C>T			A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like_dom	p.G224R	ENST00000540048.1	37	c.670		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	10.04|10.04	1.242108|1.242108	0.22796|0.22796	.|.	.|.	ENSG00000162747|ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221|ENST00000421702	T;T;T|.	0.01516|.	4.81;4.81;4.84|.	3.0|3.0	2.03|2.03	0.26663|0.26663	.|.	15.736900|.	0.00166|.	N|.	0.000005|.	T|T	0.30572|0.30572	0.0769|0.0769	M|M	0.69523|0.69523	2.12|2.12	0.09310|0.09310	N|N	1|1	D|.	0.89917|.	1.0|.	D|.	0.69307|.	0.963|.	T|T	0.16897|0.16897	-1.0387|-1.0387	10|5	0.05959|.	T|.	0.93|.	.|.	6.1797|6.1797	0.20463|0.20463	0.0:0.8442:0.0:0.1558|0.0:0.8442:0.0:0.1558	.|.	224|.	O75015|.	FCG3B_HUMAN|.	R|K	224;224;260|244	ENSP00000356941:G224R;ENSP00000294800:G224R;ENSP00000433642:G260R|.	ENSP00000294800:G224R|.	G|R	-|-	1|2	0|0	FCGR3B|FCGR3B	159860961|159860961	0.001000|0.001000	0.12720|0.12720	0.071000|0.071000	0.20095|0.20095	0.392000|0.392000	0.30506|0.30506	1.007000|1.007000	0.29860|0.29860	1.507000|1.507000	0.48752|0.48752	0.393000|0.393000	0.25936|0.25936	GGA|AGG	FCGR3B	-	NULL	ENSG00000162747		0.448	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	FCGR3B	HGNC	protein_coding		-	0.00	151	0	C	NM_000569		161594337	-1	tier1	-	no_errors	ENST00000294800	ensembl	human	known	74_37	missense	15.22	156	28	SNP	0.174	T
FEM1A	55527	genome.wustl.edu	37	19	4792859	4792859	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4792859delG	ENST00000269856.3	+	1	1132	c.993delG	c.(991-993)cagfs	p.Q331fs	AC005523.2_ENST00000601192.1_RNA|AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	331					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGCGTCACCAGGGGGGCGAGT	0.597																																																	0													39.0	43.0	42.0					19																	4792859		2203	4299	6502	SO:0001589	frameshift_variant	0			BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.993delG	19.37:g.4792859delG	ENSP00000269856:p.Gln331fs		B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G333fs	ENST00000269856.3	37	c.993	CCDS12135.1	19																																																																																			FEM1A	-	NULL	ENSG00000141965		0.597	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1A	HGNC	protein_coding	OTTHUMT00000459000.1		0.00	132	0	G			4792859	+1	tier1		no_errors	ENST00000269856	ensembl	human	known	74_37	frame_shift_del	33.33	54	27	DEL	1.000	-
FER1L6	654463	genome.wustl.edu	37	8	125131921	125131921	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:125131921delA	ENST00000522917.1	+	41	5670	c.5464delA	c.(5464-5466)aaafs	p.K1823fs	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Frame_Shift_Del_p.K1823fs	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1823						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAAGAATTACAAAAAGTAcat	0.463																																																	0													206.0	218.0	214.0					8																	125131921		2056	4176	6232	SO:0001589	frameshift_variant	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5464delA	8.37:g.125131921delA	ENSP00000428280:p.Lys1823fs			Frame_Shift_Del	DEL	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.K1823fs	ENST00000522917.1	37	c.5464	CCDS43767.1	8																																																																																			FER1L6	-	superfamily_ABC1_TM_dom	ENSG00000214814		0.463	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1		0.00	71	0	A	NM_001039112		125131921	+1	tier1		no_errors	ENST00000399018	ensembl	human	known	74_37	frame_shift_del	18.95	77	18	DEL	1.000	-
FER1L6	654463	genome.wustl.edu	37	8	125026586	125026587	+	Intron	INS	-	-	C	rs534143980	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:125026586_125026587insC	ENST00000522917.1	+	15	2128				FER1L6_ENST00000399018.1_Intron|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6							integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ttatacaaagtcccccaggtaa	0.455																																																	0																																										SO:0001627	intron_variant	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1922+815->C	8.37:g.125026591_125026591dupC				RNA	INS	-	NULL	ENST00000522917.1	37	NULL	CCDS43767.1	8																																																																																			FER1L6-AS1	-	-	ENSG00000181171		0.455	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6-AS1	HGNC	protein_coding	OTTHUMT00000381400.1		0.00	52	0	-	NM_001039112		125026587	-1	tier1		no_errors	ENST00000518567	ensembl	human	known	74_37	rna	25.00	51	17	INS	0.286:0.299	C
FERMT2	10979	genome.wustl.edu	37	14	53360081	53360082	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:53360081_53360082insT	ENST00000395631.2	-	4	671_672	c.455_456insA	c.(454-456)aagfs	p.K152fs	FERMT2_ENST00000343279.4_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000341590.3_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000399304.3_Frame_Shift_Ins_p.K152fs|FERMT2_ENST00000553373.1_Frame_Shift_Ins_p.K152fs			Q96AC1	FERM2_HUMAN	fermitin family member 2	152					cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.K152K(1)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CTAGCTTCTTCTTTTTTTTCTT	0.381																																																	1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001589	frameshift_variant	0			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.456dupA	14.37:g.53360089_53360089dupT	ENSP00000378993:p.Lys152fs		B5TJY2|Q14840|Q86TY7	Frame_Shift_Ins	INS	pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K153fs	ENST00000395631.2	37	c.456_455	CCDS9713.1	14																																																																																			FERMT2	-	pfam_FERM_N,smart_Band_41_domain	ENSG00000073712		0.381	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2		0.00	34	0	-	NM_006832		53360082	-1	tier1		no_errors	ENST00000343279	ensembl	human	known	74_37	frame_shift_ins	26.67	22	8	INS	1.000:1.000	T
FGF10	2255	genome.wustl.edu	37	5	44310592	44310592	+	Silent	SNP	G	G	A	rs200392834	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:44310592G>A	ENST00000264664.4	-	2	480	c.366C>T	c.(364-366)gcC>gcT	p.A122A		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	122					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TGGCTTTGACGGCAACAACTC	0.353													G|||	6	0.00119808	0.0008	0.0	5008	,	,		19073	0.0		0.0	False		,,,				2504	0.0051																0													123.0	106.0	112.0					5																	44310592		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.366C>T	5.37:g.44310592G>A			C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Silent	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.A122	ENST00000264664.4	37	c.366	CCDS3950.1	5																																																																																			FGF10	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	ENSG00000070193		0.353	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF10	HGNC	protein_coding	OTTHUMT00000253845.2	-	0.00	88	0	G	NM_004465		44310592	-1	tier1	rs200392834	no_errors	ENST00000264664	ensembl	human	known	74_37	silent	22.67	133	39	SNP	0.588	A
FGF3	2248	genome.wustl.edu	37	11	69631126	69631126	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:69631126A>G	ENST00000334134.2	-	2	376	c.286T>C	c.(286-288)Tac>Cac	p.Y96H		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	96					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			ATGGCCAGGTACCGCCCGGAG	0.597																																																	0													168.0	139.0	149.0					11																	69631126		2200	4294	6494	SO:0001583	missense	0				CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"""INT-2 proto-oncogene protein"", ""oncogene INT2"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"""	164950	"""fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"""	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.286T>C	11.37:g.69631126A>G	ENSP00000334122:p.Tyr96His		Q0VG69	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.Y96H	ENST00000334134.2	37	c.286	CCDS8195.1	11	.	.	.	.	.	.	.	.	.	.	A	25.7	4.662047	0.88251	.	.	ENSG00000186895	ENST00000334134	D	0.90385	-2.66	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.95411	0.8510	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95739	0.8781	9	.	.	.	.	14.4164	0.67153	1.0:0.0:0.0:0.0	.	96	P11487	FGF3_HUMAN	H	96	ENSP00000334122:Y96H	.	Y	-	1	0	FGF3	69340063	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.764000	0.91719	1.810000	0.52873	0.454000	0.30748	TAC	FGF3	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	ENSG00000186895		0.597	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF3	HGNC	protein_coding	OTTHUMT00000396835.1	-	0.00	77	0	A	NM_005247		69631126	-1	tier1	-	no_errors	ENST00000334134	ensembl	human	known	74_37	missense	44.26	34	27	SNP	1.000	G
FGFBP1	9982	genome.wustl.edu	37	4	15938178	15938178	+	Frame_Shift_Del	DEL	T	T	-	rs144178676|rs562275732	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:15938178delT	ENST00000382333.1	-	3	372	c.78delA	c.(76-78)aaafs	p.K26fs	FGFBP1_ENST00000259988.2_Frame_Shift_Del_p.K26fs	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	26					cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						CATTCTTCACTTTTTTTTTCC	0.527													TTTTTTTTT|TTTTTTTTT|TTTTTTTT|deletion	6	0.00119808	0.0015	0.0	5008	,	,		22647	0.002		0.002	False		,,,				2504	0.0																0										10,149,4099		0,0,10,41,67,2011	73.0	76.0	75.0			-0.2	0.0	4	dbSNP_134	77	35,268,7925		0,0,35,67,134,3878	no	codingComplex	FGFBP1	NM_005130.3		0,0,45,108,201,5889	A1A1,A1A2,A1R,A2A2,A2R,RR		3.6825,3.7341,3.7001			15938178	45,417,12024	2202	4298	6500	SO:0001589	frameshift_variant	0			M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.78delA	4.37:g.15938178delT	ENSP00000371770:p.Lys26fs		A8K5J2	Frame_Shift_Del	DEL	pfam_FGF1-bd	p.V27fs	ENST00000382333.1	37	c.78	CCDS3418.1	4																																																																																			FGFBP1	-	pfam_FGF1-bd	ENSG00000137440		0.527	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFBP1	HGNC	protein_coding	OTTHUMT00000214974.1		0.00	77	0	T	NM_005130		15938178	-1	tier1		no_errors	ENST00000259988	ensembl	human	known	74_37	frame_shift_del	25.00	54	18	DEL	0.001	-
FGFR1OP	11116	genome.wustl.edu	37	6	167438458	167438458	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:167438458delT	ENST00000366847.4	+	9	1150				FGFR1OP_ENST00000349556.4_Intron|RP11-517H2.6_ENST00000609590.1_RNA	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		TTATTGTTGATTTTTTTTCCC	0.323			T	FGFR1	"""MPD, NHL"""																																			Dom	yes		6	6q27	11116	FGFR1 oncogene partner (FOP)		L	0																																										SO:0001627	intron_variant	0			Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.919+76T>-	6.37:g.167438458delT			A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	RNA	DEL	-	NULL	ENST00000366847.4	37	NULL	CCDS5296.1	6																																																																																			FGFR1OP	-	-	ENSG00000213066		0.323	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1OP	HGNC	protein_coding	OTTHUMT00000043099.2		0.00	16	0	T	NM_007045		167438458	+1	tier1		no_errors	ENST00000496181	ensembl	human	known	74_37	rna	39.29	17	11	DEL	0.043	-
FGFRL1	53834	genome.wustl.edu	37	4	1018800	1018800	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:1018800C>A	ENST00000398484.2	+	8	1760	c.1180C>A	c.(1180-1182)Ctg>Atg	p.L394M	RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000264748.6_Missense_Mutation_p.L394M|FGFRL1_ENST00000504138.1_Missense_Mutation_p.L394M|FGFRL1_ENST00000510644.1_Missense_Mutation_p.L394M			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	394					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCTGGGCACCCTGCTCCTGTG	0.741																																																	0													22.0	25.0	24.0					4																	1018800		2199	4294	6493	SO:0001583	missense	0				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1180C>A	4.37:g.1018800C>A	ENSP00000381498:p.Leu394Met		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.L394M	ENST00000398484.2	37	c.1180	CCDS3344.1	4	.	.	.	.	.	.	.	.	.	.	c	12.96	2.093575	0.36952	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	4.74	3.02	0.34903	.	0.350509	0.29587	N	0.011734	T	0.41119	0.1145	N	0.08118	0	0.09310	N	0.999997	B	0.16396	0.017	B	0.12156	0.007	T	0.20672	-1.0268	10	0.09084	T	0.74	-9.1045	4.1898	0.10416	0.2745:0.1788:0.5467:0.0	.	394	Q8N441	FGRL1_HUMAN	M	394;364;394;394;394	ENSP00000381498:L394M;ENSP00000425025:L394M;ENSP00000423091:L394M;ENSP00000264748:L394M	ENSP00000264748:L394M	L	+	1	2	FGFRL1	1008800	0.939000	0.31865	0.884000	0.34674	0.731000	0.41821	2.773000	0.47686	0.445000	0.26639	-0.134000	0.14843	CTG	FGFRL1	-	NULL	ENSG00000127418		0.741	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFRL1	HGNC	protein_coding	OTTHUMT00000239195.2	-	0.00	51	0	C	NM_021923		1018800	+1	tier1	-	no_errors	ENST00000264748	ensembl	human	known	74_37	missense	31.25	22	10	SNP	0.699	A
FHOD3	80206	genome.wustl.edu	37	18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:34205516delC	ENST00000359247.4	+	10	1000	c.1000delC	c.(1000-1002)cccfs	p.P335fs	FHOD3_ENST00000445677.1_Frame_Shift_Del_p.P335fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.P335fs|FHOD3_ENST00000257209.4_Frame_Shift_Del_p.P335fs|FHOD3_ENST00000591635.1_Frame_Shift_Del_p.H8fs	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	335	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)		p.S336fs*138(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACGGAGCCACCCCCCAGTGG	0.677																																																	1	Deletion - Frameshift(1)	large_intestine(1)											40.0	44.0	43.0					18																	34205516		2203	4299	6502	SO:0001589	frameshift_variant	0			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1000delC	18.37:g.34205516delC	ENSP00000352186:p.Pro335fs		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Frame_Shift_Del	DEL	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.S336fs	ENST00000359247.4	37	c.1000		18																																																																																			FHOD3	-	superfamily_ARM-type_fold	ENSG00000134775		0.677	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1		0.00	81	0	C	XM_371114		34205516	+1	tier1		no_errors	ENST00000257209	ensembl	human	known	74_37	frame_shift_del	37.31	42	25	DEL	0.999	-
FIGF	2277	genome.wustl.edu	37	X	15364159	15364159	+	3'UTR	DEL	T	T	-	rs377695936		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:15364159delT	ENST00000297904.3	-	0	1590				FIGF_ENST00000488351.1_5'UTR	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)						angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					GTAAAATGGATTTTTTTTTTA	0.443													|||unknown(HR)	46	0.0121854	0.028	0.0043	3775	,	,		13897	0.001		0.001	False		,,,				2504	0.0041																0																																										SO:0001624	3_prime_UTR_variant	0			AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.*96A>-	X.37:g.15364159delT			B2R7Z3	RNA	DEL	-	NULL	ENST00000297904.3	37	NULL	CCDS14166.1	X																																																																																			FIGF	-	-	ENSG00000165197		0.443	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGF	HGNC	protein_coding	OTTHUMT00000055859.1		0.00	17	0	T	NM_004469		15364159	-1	tier1		no_errors	ENST00000488351	ensembl	human	known	74_37	rna	72.22	5	13	DEL	0.000	-
FIGLA	344018	genome.wustl.edu	37	2	71017547	71017547	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:71017547C>T	ENST00000332372.6	-	1	228	c.224G>A	c.(223-225)cGt>cAt	p.R75H		NM_001004311.3	NP_001004311.2	Q6QHK4	FIGLA_HUMAN	folliculogenesis specific basic helix-loop-helix	75	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				multicellular organismal development (GO:0007275)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|transcription factor binding (GO:0008134)			endometrium(2)|lung(3)	5						CACCCGCTCACGCTCCTTGGC	0.677																																																	0													5.0	6.0	6.0					2																	71017547		1756	3735	5491	SO:0001583	missense	0			BC039536	CCDS46320.1	2p13.3	2013-05-21			ENSG00000183733	ENSG00000183733		"""Basic helix-loop-helix proteins"""	24669	protein-coding gene	gene with protein product	"""factor in the germline alpha"""	608697				12468641	Standard	NM_001004311		Approved	bHLHc8	uc002she.1	Q6QHK4	OTTHUMG00000153440	ENST00000332372.6:c.224G>A	2.37:g.71017547C>T	ENSP00000333097:p.Arg75His			Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R75H	ENST00000332372.6	37	c.224	CCDS46320.1	2	.	.	.	.	.	.	.	.	.	.	C	15.99	2.994736	0.54041	.	.	ENSG00000183733	ENST00000332372	D	0.94000	-3.33	3.83	3.83	0.44106	Helix-loop-helix DNA-binding (5);	0.268108	0.23836	N	0.044081	D	0.97102	0.9053	M	0.93106	3.38	0.45662	D	0.998582	D	0.89917	1.0	D	0.72075	0.976	D	0.97828	1.0261	10	0.87932	D	0	.	13.2821	0.60222	0.0:1.0:0.0:0.0	.	75	Q6QHK4	FIGLA_HUMAN	H	75	ENSP00000333097:R75H	ENSP00000333097:R75H	R	-	2	0	FIGLA	70871055	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	3.840000	0.55843	1.965000	0.57142	0.313000	0.20887	CGT	FIGLA	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	ENSG00000183733		0.677	FIGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGLA	HGNC	protein_coding	OTTHUMT00000331214.1	-	0.00	12	0	C	NM_001004311		71017547	-1	tier1	-	no_errors	ENST00000332372	ensembl	human	known	74_37	missense	54.55	5	6	SNP	1.000	T
FLG	2312	genome.wustl.edu	37	1	152277634	152277634	+	Missense_Mutation	SNP	A	A	G	rs3126068	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152277634A>G	ENST00000368799.1	-	3	9763	c.9728T>C	c.(9727-9729)gTt>gCt	p.V3243A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3243	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCCTGAACAGATCCACG	0.587									Ichthyosis				G|||	4	0.000798722	0.0	0.0	5008	,	,		19744	0.0		0.0	False		,,,				2504	0.0041																0													226.0	231.0	229.0					1																	152277634		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9728T>C	1.37:g.152277634A>G	ENSP00000357789:p.Val3243Ala		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.V3243A	ENST00000368799.1	37	c.9728	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	4.998	0.185308	0.09495	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01572	4.76	3.64	-5.71	0.02413	.	.	.	.	.	T	0.00109	0.0003	N	0.00563	-1.375	0.09310	N	1	B	0.15930	0.015	B	0.21360	0.034	T	0.41734	-0.9492	9	0.02654	T	1	.	1.8475	0.03162	0.4569:0.2279:0.1898:0.1254	.	3243	P20930	FILA_HUMAN	A	3243;181	ENSP00000357789:V3243A	ENSP00000357786:V181A	V	-	2	0	FLG	150544258	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.775000	0.00187	-1.805000	0.01239	-2.321000	0.00252	GTT	FLG	-	NULL	ENSG00000143631		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0.00	164	0	A	NM_002016		152277634	-1	tier1	rs3126068	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	24.20	166	53	SNP	0.000	G
FLG	2312	genome.wustl.edu	37	1	152283692	152283692	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152283692T>C	ENST00000368799.1	-	3	3705	c.3670A>G	c.(3670-3672)Aaa>Gaa	p.K1224E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1224	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGATTGTTTGTCCTTACGA	0.562									Ichthyosis																																								0													348.0	340.0	343.0					1																	152283692		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3670A>G	1.37:g.152283692T>C	ENSP00000357789:p.Lys1224Glu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.K1224E	ENST00000368799.1	37	c.3670	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	4.296	0.054185	0.08291	.	.	ENSG00000143631	ENST00000368799	T	0.01647	4.71	1.94	-0.48	0.12085	.	.	.	.	.	T	0.00109	0.0003	N	0.00049	-2.42	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31392	-0.9945	9	0.02654	T	1	.	5.7003	0.17879	0.0:0.489:0.0:0.511	.	1224	P20930	FILA_HUMAN	E	1224	ENSP00000357789:K1224E	ENSP00000357789:K1224E	K	-	1	0	FLG	150550316	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.469000	0.02348	-0.489000	0.06716	-1.128000	0.01989	AAA	FLG	-	NULL	ENSG00000143631		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0.00	210	0	T	NM_002016		152283692	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	22.84	223	66	SNP	0.000	C
FLG	2312	genome.wustl.edu	37	1	152283696	152283696	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152283696C>G	ENST00000368799.1	-	3	3701	c.3666G>C	c.(3664-3666)aaG>aaC	p.K1222N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1222	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTGTTTGTCCTTACGAGTTT	0.567									Ichthyosis																																								0													353.0	344.0	347.0					1																	152283696		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3666G>C	1.37:g.152283696C>G	ENSP00000357789:p.Lys1222Asn		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.K1222N	ENST00000368799.1	37	c.3666	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.442443	0.00012	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	0.387	-0.774	0.10991	.	.	.	.	.	T	0.00109	0.0003	N	0.00289	-1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38499	-0.9658	8	0.16420	T	0.52	.	.	.	.	.	1222	P20930	FILA_HUMAN	N	1222	ENSP00000357789:K1222N	ENSP00000357789:K1222N	K	-	3	2	FLG	150550320	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.987000	0.00659	-3.802000	0.00105	-3.107000	0.00063	AAG	FLG	-	NULL	ENSG00000143631		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0.00	213	0	C	NM_002016		152283696	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	23.51	231	71	SNP	0.000	G
FLII	2314	genome.wustl.edu	37	17	18150067	18150067	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:18150067G>A	ENST00000327031.4	-	23	3117	c.2892C>T	c.(2890-2892)ggC>ggT	p.G964G	FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Silent_p.G953G|FLII_ENST00000379450.4_Silent_p.G878G|FLII_ENST00000545457.2_Silent_p.G909G	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	964	Glu-rich.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ttgcttcctcgccttctttgc	0.587																																																	0													136.0	108.0	117.0					17																	18150067		2202	4300	6502	SO:0001819	synonymous_variant	0			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2892C>T	17.37:g.18150067G>A			B4DIL0|F5H407|J3QLG3	Silent	SNP	pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.G964	ENST00000327031.4	37	c.2892	CCDS11192.1	17																																																																																			FLII	-	smart_Villin/Gelsolin	ENSG00000177731		0.587	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLII	HGNC	protein_coding	OTTHUMT00000132032.2	-	0.00	89	0	G	NM_002018		18150067	-1	tier1	-	no_errors	ENST00000327031	ensembl	human	known	74_37	silent	39.73	44	29	SNP	0.009	A
FLOT1	10211	genome.wustl.edu	37	6	30697904	30697904	+	Silent	SNP	G	G	A	rs150262104		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:30697904G>A	ENST00000376389.3	-	12	1369	c.1149C>T	c.(1147-1149)agC>agT	p.S383S	FLOT1_ENST00000456573.2_Silent_p.S335S	NM_005803.2	NP_005794.1	P41440	S19A1_HUMAN	flotillin 1	0					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13					Methotrexate(DB00563)|Pralatrexate(DB06813)	TCCCACTGCCGCTGGACACCA	0.562																																																	0													90.0	70.0	77.0					6																	30697904		1511	2709	4220	SO:0001819	synonymous_variant	0			AF089750	CCDS4688.1	6p21.3	2010-02-17			ENSG00000137312	ENSG00000137312			3757	protein-coding gene	gene with protein product		606998					Standard	XM_005248780		Approved		uc003nrm.3	O75955	OTTHUMG00000031151	ENST00000376389.3:c.1149C>T	6.37:g.30697904G>A			B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	pfam_Band_7,smart_Band_7	p.S383	ENST00000376389.3	37	c.1149	CCDS4688.1	6																																																																																			FLOT1	-	NULL	ENSG00000137312		0.562	FLOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLOT1	HGNC	protein_coding	OTTHUMT00000076276.2	-	0.00	39	0	G			30697904	-1	tier1	-	no_errors	ENST00000376389	ensembl	human	known	74_37	silent	40.91	13	9	SNP	0.980	A
FLRT2	23768	genome.wustl.edu	37	14	86089811	86089811	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:86089811C>T	ENST00000330753.4	+	2	2720	c.1953C>T	c.(1951-1953)agC>agT	p.S651S	FLRT2_ENST00000554746.1_Silent_p.S651S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	651					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCAACAGCAGCGTGCCAGACC	0.498																																																	0													187.0	191.0	190.0					14																	86089811		2183	4244	6427	SO:0001819	synonymous_variant	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1953C>T	14.37:g.86089811C>T			A0AV84|B7ZLP3	Silent	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.S651	ENST00000330753.4	37	c.1953	CCDS9877.1	14																																																																																			FLRT2	-	NULL	ENSG00000185070		0.498	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	-	0.00	16	0	C			86089811	+1	tier1	-	no_errors	ENST00000330753	ensembl	human	known	74_37	silent	31.25	11	5	SNP	0.922	T
FLRT2	23768	genome.wustl.edu	37	14	86090075	86090076	+	3'UTR	DEL	AA	AA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:86090075_86090076delAA	ENST00000330753.4	+	0	2984_2985				FLRT2_ENST00000554746.1_3'UTR	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTTAAATCTTAAAAAAAAAAAA	0.307																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.*235AA>-	14.37:g.86090085_86090086delAA			A0AV84|B7ZLP3	RNA	DEL	-	NULL	ENST00000330753.4	37	NULL	CCDS9877.1	14																																																																																			FLRT2	-	-	ENSG00000185070		0.307	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1		0.00	44	0	AA			86090076	+1	tier1		no_errors	ENST00000553650	ensembl	human	putative	74_37	rna	32.43	25	12	DEL	1.000:1.000	-
FLT1	2321	genome.wustl.edu	37	13	28893668	28893668	+	Nonsense_Mutation	SNP	G	G	A	rs374452662		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:28893668G>A	ENST00000282397.4	-	24	3429	c.3178C>T	c.(3178-3180)Cga>Tga	p.R1060*	FLT1_ENST00000543394.1_Nonsense_Mutation_p.R83*|FLT1_ENST00000540678.1_Nonsense_Mutation_p.R278*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1060	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGAGGAAGTCGAGTCTAGAAG	0.498																																																	0								G	stop/ARG	0,4406		0,0,2203	48.0	44.0	45.0		3178	5.5	1.0	13		45	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	FLT1	NM_002019.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1060/1339	28893668	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3178C>T	13.37:g.28893668G>A	ENSP00000282397:p.Arg1060*		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.R1060*	ENST00000282397.4	37	c.3178	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	G	38	6.913347	0.97932	0.0	1.16E-4	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7347	0.96198	0.0:0.0:1.0:0.0	.	.	.	.	X	1060;83;278	.	ENSP00000282397:R1060X	R	-	1	2	FLT1	27791668	1.000000	0.71417	0.957000	0.39632	0.588000	0.36517	6.586000	0.74067	2.746000	0.94184	0.655000	0.94253	CGA	FLT1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000102755		0.498	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1		0.00	11	0	G			28893668	-1			no_errors	ENST00000282397	ensembl	human	known	74_37	nonsense	17.65	14	3	SNP	1.000	A
FLYWCH1	84256	genome.wustl.edu	37	16	2983467	2983467	+	Missense_Mutation	SNP	C	C	A	rs375862744		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:2983467C>A	ENST00000253928.9	+	5	1538	c.1133C>A	c.(1132-1134)cCg>cAg	p.P378Q	FLYWCH1_ENST00000416288.2_Missense_Mutation_p.P377Q|FLYWCH1_ENST00000399667.2_Missense_Mutation_p.P378Q			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	378						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						CGCAGGGGTCCGGGTCCCCTG	0.672																																																	0													12.0	19.0	16.0					16																	2983467		2108	4210	6318	SO:0001583	missense	0			AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1133C>A	16.37:g.2983467C>A	ENSP00000253928:p.Pro378Gln		D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	pfam_Znf_FLYWCH	p.P378Q	ENST00000253928.9	37	c.1133		16	.	.	.	.	.	.	.	.	.	.	C	9.848	1.192780	0.21954	.	.	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288	.	.	.	4.13	2.03	0.26663	.	.	.	.	.	T	0.31949	0.0813	L	0.27053	0.805	0.09310	N	1	B;D;B	0.54397	0.425;0.966;0.203	B;P;B	0.50860	0.086;0.652;0.058	T	0.12811	-1.0533	8	0.28530	T	0.3	.	9.6056	0.39632	0.3749:0.6251:0.0:0.0	.	378;378;377	Q4VC44-3;Q4VC44;Q4VC44-2	.;FWCH1_HUMAN;.	Q	378;378;377	.	ENSP00000253928:P378Q	P	+	2	0	FLYWCH1	2923468	0.000000	0.05858	0.007000	0.13788	0.009000	0.06853	-0.185000	0.09684	0.412000	0.25729	0.561000	0.74099	CCG	FLYWCH1	-	NULL	ENSG00000059122		0.672	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	FLYWCH1	HGNC	protein_coding	OTTHUMT00000436479.1	-	0.00	62	0	C	NM_032296		2983467	+1	tier1	-	no_errors	ENST00000399667	ensembl	human	known	74_37	missense	35.85	34	19	SNP	0.003	A
FMN2	56776	genome.wustl.edu	37	1	240370225	240370225	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:240370225G>T	ENST00000319653.9	+	5	2343	c.2113G>T	c.(2113-2115)Gcc>Tcc	p.A705S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	705					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACAGAGGTGGCCAGTGGTCA	0.498																																																	0													71.0	71.0	71.0					1																	240370225		2203	4300	6503	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2113G>T	1.37:g.240370225G>T	ENSP00000318884:p.Ala705Ser		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.A705S	ENST00000319653.9	37	c.2113	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	9.150	1.015955	0.19355	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	T	0.26223	1.75	4.91	0.85	0.18980	.	0.660199	0.13879	N	0.356463	T	0.12944	0.0314	N	0.22421	0.69	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.25433	-1.0132	10	0.27785	T	0.31	.	2.6543	0.05008	0.2796:0.1179:0.4877:0.1148	.	705	Q9NZ56	FMN2_HUMAN	S	142;705	ENSP00000318884:A705S	ENSP00000318884:A705S	A	+	1	0	FMN2	238436848	0.000000	0.05858	0.009000	0.14445	0.028000	0.11728	-0.024000	0.12435	0.073000	0.16731	-0.136000	0.14681	GCC	FMN2	-	NULL	ENSG00000155816		0.498	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0.00	37	0	G	XM_371352		240370225	+1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	25.00	27	9	SNP	0.002	T
FMNL1	752	genome.wustl.edu	37	17	43319736	43319736	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:43319736T>C	ENST00000331495.3	+	16	2250	c.1914T>C	c.(1912-1914)acT>acC	p.T638T	FMNL1_ENST00000587489.1_Silent_p.T216T|CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Silent_p.T638T|CTD-2020K17.3_ENST00000587534.1_RNA|CTD-2020K17.3_ENST00000393507.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	638	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CCATCCAGACTAAGTTCCGAA	0.592																																					GBM(164;1247 1997 8702 11086 51972)												0													89.0	76.0	80.0					17																	43319736		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.1914T>C	17.37:g.43319736T>C			D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.T638	ENST00000331495.3	37	c.1914	CCDS11497.1	17																																																																																			FMNL1	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000184922		0.592	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	-	0.00	69	0	T	NM_005892		43319736	+1	tier1	-	no_errors	ENST00000328118	ensembl	human	known	74_37	silent	47.06	18	16	SNP	1.000	C
FNDC1	84624	genome.wustl.edu	37	6	159653240	159653241	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:159653240_159653241delCT	ENST00000297267.9	+	11	1896_1897	c.1696_1697delCT	c.(1696-1698)ctgfs	p.L566fs	FNDC1_ENST00000340366.6_Frame_Shift_Del_p.L503fs	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	566					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAAACGGACCCTGAGGCCGCCA	0.634																																																	0																																										SO:0001589	frameshift_variant	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1696_1697delCT	6.37:g.159653240_159653241delCT	ENSP00000297267:p.Leu566fs		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L566fs	ENST00000297267.9	37	c.1696_1697	CCDS47512.1	6																																																																																			FNDC1	-	NULL	ENSG00000164694		0.634	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3		0.00	45	0	CT	NM_032532		159653241	+1	tier1		no_errors	ENST00000297267	ensembl	human	known	74_37	frame_shift_del	41.94	18	13	DEL	0.000:0.067	-
FOCAD	54914	genome.wustl.edu	37	9	20988415	20988415	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:20988415C>T	ENST00000380249.1	+	43	5355	c.4991C>T	c.(4990-4992)aCg>aTg	p.T1664M	FOCAD_ENST00000605086.1_Missense_Mutation_p.T1100M|FOCAD_ENST00000338382.6_Missense_Mutation_p.T1664M	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1664						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TTTCACAATACGGCTCTTGAC	0.373																																																	0													113.0	106.0	108.0					9																	20988415		2203	4300	6503	SO:0001583	missense	0			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4991C>T	9.37:g.20988415C>T	ENSP00000369599:p.Thr1664Met		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.T1664M	ENST00000380249.1	37	c.4991	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	C	6.807	0.518049	0.13005	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.18502	2.21;2.21	6.17	3.86	0.44501	.	0.312792	0.34725	N	0.003723	T	0.09247	0.0228	N	0.08118	0	0.20821	N	0.999848	B	0.11235	0.004	B	0.08055	0.003	T	0.24368	-1.0162	10	0.52906	T	0.07	-14.1861	10.57	0.45194	0.0:0.1292:0.0:0.8708	.	1664	Q5VW36	K1797_HUMAN	M	1664	ENSP00000369599:T1664M;ENSP00000344307:T1664M	ENSP00000344307:T1664M	T	+	2	0	KIAA1797	20978415	0.997000	0.39634	0.992000	0.48379	0.139000	0.21198	0.259000	0.18405	0.580000	0.29522	-0.238000	0.12139	ACG	FOCAD	-	pfam_DUF3028	ENSG00000188352		0.373	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	-	0.00	33	0	C	NM_017794		20988415	+1	tier1	-	no_errors	ENST00000338382	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	T
FOSL2	2355	genome.wustl.edu	37	2	28634811	28634813	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:28634811_28634813delGGA	ENST00000264716.4	+	4	1340_1342	c.477_479delGGA	c.(475-480)ctggag>ctg	p.E162del	FOSL2_ENST00000379619.1_In_Frame_Del_p.E154del|FOSL2_ENST00000545753.1_In_Frame_Del_p.E123del	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	162	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CAGAGGAGCTGGAGGAGGAGAAG	0.542																																																	0																																										SO:0001651	inframe_deletion	0				CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.477_479delGGA	2.37:g.28634817_28634819delGGA	ENSP00000264716:p.Glu162del		B2RD58|B3KP27|B4DYV4|Q6FG46	In_Frame_Del	DEL	pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.E162in_frame_del	ENST00000264716.4	37	c.477_479	CCDS1766.1	2																																																																																			FOSL2	-	pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	ENSG00000075426		0.542	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOSL2	HGNC	protein_coding	OTTHUMT00000215116.2		0.00	33	0	GGA	NM_005253		28634813	+1	tier1		no_errors	ENST00000264716	ensembl	human	known	74_37	in_frame_del	41.03	23	16	DEL	1.000:1.000:1.000	-
FOXD1	2297	genome.wustl.edu	37	5	72744084	72744086	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:72744084_72744086delTCC	ENST00000499003.3	-	1	266_268	c.102_104delGGA	c.(100-105)gaggac>gac	p.E34del	RP11-79P5.2_ENST00000514661.1_lincRNA|FOXD1_ENST00000513595.1_5'Flank	NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	34	Poly-Glu.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in ureteric bud branching (GO:0060678)|metanephric capsule development (GO:0072213)|metanephric capsule specification (GO:0072267)|metanephric nephron development (GO:0072210)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme development (GO:0072076)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of gene expression (GO:0010628)|positive regulation of kidney development (GO:0090184)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		ctcgtcgtcgtcctcctcttcct	0.709																																																	0										10,3324		5,0,1662						-1.3	1.0			34	18,7122		8,2,3560	no	coding	FOXD1	NM_004472.2		13,2,5222	A1A1,A1R,RR		0.2521,0.2999,0.2673				28,10446				SO:0001651	inframe_deletion	0			U59831	CCDS75259.1	5q13.2	2014-06-04			ENSG00000251493	ENSG00000251493		"""Forkhead boxes"""	3802	protein-coding gene	gene with protein product		601091		FKHL8		7957066, 8825632	Standard	NM_004472		Approved	FREAC4	uc003kcp.3	Q16676	OTTHUMG00000162495	ENST00000499003.3:c.102_104delGGA	5.37:g.72744087_72744089delTCC	ENSP00000462795:p.Glu34del		Q12949	In_Frame_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E34in_frame_del	ENST00000499003.3	37	c.104_102		5																																																																																			FOXD1	-	NULL	ENSG00000251493		0.709	FOXD1-001	KNOWN	sequence_error|basic|appris_principal	protein_coding	FOXD1	HGNC	protein_coding	OTTHUMT00000369154.2		0.00	20	0	TCC	NM_004472		72744086	-1	tier1		no_errors	ENST00000499003	ensembl	human	known	74_37	in_frame_del	33.33	16	8	DEL	0.996:0.998:0.999	-
FOXD4L5	653427	genome.wustl.edu	37	9	70177789	70177789	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:70177789G>A	ENST00000377420.1	-	1	1026	c.195C>T	c.(193-195)ggC>ggT	p.G65G		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	65					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|lung(2)	7						GCGCAACCCCGCCCCACCGGG	0.672																																																	0													14.0	32.0	26.0					9																	70177789		332	700	1032	SO:0001819	synonymous_variant	0				CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.195C>T	9.37:g.70177789G>A				Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G65	ENST00000377420.1	37	c.195	CCDS47977.1	9																																																																																			FOXD4L5	-	NULL	ENSG00000204779		0.672	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L5	HGNC	protein_coding	OTTHUMT00000037122.1	-	0.00	84	0	G	NM_001126334		70177789	-1	tier1	-	no_errors	ENST00000377420	ensembl	human	known	74_37	silent	15.00	68	12	SNP	0.026	A
FOXF1	2294	genome.wustl.edu	37	16	86545069	86545069	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:86545069delC	ENST00000262426.4	+	1	937	c.894delC	c.(892-894)aacfs	p.N298fs	FENDRR_ENST00000595886.1_lincRNA	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	298					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CCGCGGCCAACCCCCTGTCCG	0.706																																																	0													5.0	6.0	6.0					16																	86545069		2027	4033	6060	SO:0001589	frameshift_variant	0			U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.894delC	16.37:g.86545069delC	ENSP00000262426:p.Asn298fs		B2RAF4|Q5FWE5	Frame_Shift_Del	DEL	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L300fs	ENST00000262426.4	37	c.894	CCDS10957.2	16																																																																																			FOXF1	-	NULL	ENSG00000103241		0.706	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FOXF1	HGNC	protein_coding	OTTHUMT00000269103.2		0.00	10	0	C	NM_001451		86545069	+1			no_errors	ENST00000262426	ensembl	human	known	74_37	frame_shift_del	28.57	10	4	DEL	1.000	0
FOXI2	399823	genome.wustl.edu	37	10	129536832	129536832	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:129536832A>G	ENST00000388920.4	+	2	599	c.560A>G	c.(559-561)gAc>gGc	p.D187G		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	187					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				AAGATGTTTGACAACGGGAAC	0.607																																					Esophageal Squamous(54;1038 1280 2528 31583)												0													38.0	40.0	39.0					10																	129536832		2203	4300	6503	SO:0001583	missense	0			AK128865	CCDS7655.2	10q26.2	2008-04-10			ENSG00000186766	ENSG00000186766		"""Forkhead boxes"""	32448	protein-coding gene	gene with protein product							Standard	NM_207426		Approved	FLJ46831	uc009yas.2	Q6ZQN5	OTTHUMG00000019250	ENST00000388920.4:c.560A>G	10.37:g.129536832A>G	ENSP00000373572:p.Asp187Gly			Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.D187G	ENST00000388920.4	37	c.560	CCDS7655.2	10	.	.	.	.	.	.	.	.	.	.	A	25.5	4.644322	0.87859	.	.	ENSG00000186766	ENST00000388920	D	0.95447	-3.71	4.15	4.15	0.48705	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96417	0.8831	L	0.53729	1.69	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96470	0.9348	10	0.87932	D	0	.	11.1915	0.48687	1.0:0.0:0.0:0.0	.	187	Q6ZQN5	FOXI2_HUMAN	G	187	ENSP00000373572:D187G	ENSP00000373572:D187G	D	+	2	0	FOXI2	129426822	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.852000	0.69488	1.737000	0.51674	0.459000	0.35465	GAC	FOXI2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head	ENSG00000186766		0.607	FOXI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXI2	HGNC	protein_coding	OTTHUMT00000050984.2	-	0.00	64	0	A	NM_207426		129536832	+1	tier1	-	no_errors	ENST00000388920	ensembl	human	known	74_37	missense	40.43	28	19	SNP	1.000	G
FOXN3	1112	genome.wustl.edu	37	14	89878615	89878615	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:89878615C>T	ENST00000345097.4	-	2	322	c.206G>A	c.(205-207)aGc>aAc	p.S69N	RP11-33N16.2_ENST00000556383.1_RNA|FOXN3_ENST00000555353.1_Missense_Mutation_p.S69N|RP11-33N16.3_ENST00000555070.1_RNA|FOXN3_ENST00000261302.5_Missense_Mutation_p.S69N|FOXN3_ENST00000557258.1_Missense_Mutation_p.S69N	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	69					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CAAGTTCTTGCTCTCGTGCAG	0.577																																																	0													92.0	79.0	83.0					14																	89878615		2203	4300	6503	SO:0001583	missense	0				CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.206G>A	14.37:g.89878615C>T	ENSP00000343288:p.Ser69Asn		Q96II7|Q9UIE7	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.S69N	ENST00000345097.4	37	c.206	CCDS41977.1	14	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718151	0.68844	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353;ENST00000555855;ENST00000555034	T;T;T;T;D	0.95554	-0.13;-0.13;-0.13;-0.13;-3.74	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.95079	0.8406	M	0.77103	2.36	0.80722	D	1	B;B	0.20164	0.042;0.011	B;B	0.19391	0.025;0.011	D	0.92892	0.6332	10	0.34782	T	0.22	.	18.6345	0.91372	0.0:1.0:0.0:0.0	.	69;69	O00409;O00409-2	FOXN3_HUMAN;.	N	69	ENSP00000343288:S69N;ENSP00000261302:S69N;ENSP00000452005:S69N;ENSP00000452227:S69N;ENSP00000451135:S69N	ENSP00000261302:S69N	S	-	2	0	FOXN3	88948368	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.702000	0.61817	2.416000	0.81992	0.555000	0.69702	AGC	FOXN3	-	NULL	ENSG00000053254		0.577	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN3	HGNC	protein_coding	OTTHUMT00000410902.2	-	0.00	44	0	C	NM_005197		89878615	-1	tier1	-	no_errors	ENST00000261302	ensembl	human	known	74_37	missense	27.27	32	12	SNP	1.000	T
FOXP1	27086	genome.wustl.edu	37	3	71008342	71008344	+	3'UTR	DEL	TTT	TTT	-	rs398062446		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:71008342_71008344delTTT	ENST00000318789.4	-	0	2613_2615				FOXP1_ENST00000491238.1_3'UTR|FOXP1_ENST00000475937.1_3'UTR	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TTTTGACGTGTTTTTTTTTTTTT	0.404			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0																																										SO:0001624	3_prime_UTR_variant	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.*56AAA>-	3.37:g.71008351_71008353delTTT			A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	RNA	DEL	-	NULL	ENST00000318789.4	37	NULL	CCDS2914.1	3																																																																																			FOXP1	-	-	ENSG00000114861		0.404	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1		0.00	39	0	TTT	NM_032682		71008344	-1	tier1		no_errors	ENST00000460805	ensembl	human	known	74_37	rna	25.00	33	11	DEL	0.439:0.024:0.024	-
FOXP1	27086	genome.wustl.edu	37	3	71026132	71026132	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:71026132C>T	ENST00000318789.4	-	17	2015	c.1490G>A	c.(1489-1491)cGa>cAa	p.R497Q	FOXP1_ENST00000491238.1_Missense_Mutation_p.R499Q|FOXP1_ENST00000475937.1_Missense_Mutation_p.R497Q|FOXP1_ENST00000484350.1_Missense_Mutation_p.R421Q|FOXP1_ENST00000498215.1_Missense_Mutation_p.R497Q|FOXP1_ENST00000468577.1_Missense_Mutation_p.R497Q|FOXP1_ENST00000493089.1_Missense_Mutation_p.R496Q	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	497					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGCAAACATTCGTGTGAACCA	0.418			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													184.0	169.0	174.0					3																	71026132		2203	4300	6503	SO:0001583	missense	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1490G>A	3.37:g.71026132C>T	ENSP00000318902:p.Arg497Gln		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.R497Q	ENST00000318789.4	37	c.1490	CCDS2914.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.060896	0.93846	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000475937;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	D;D;D;D;D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68;-3.68	6.08	6.08	0.98989	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.95856	0.8651	L	0.35288	1.05	0.80722	D	1	D;D;D;D	0.89917	0.996;0.999;1.0;1.0	D;D;D;D	0.76071	0.933;0.982;0.987;0.98	D	0.95901	0.8915	10	0.72032	D	0.01	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	496;496;421;497	B3KV70;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	Q	497;309;497;393;499;496;497;421;497	ENSP00000318902:R497Q;ENSP00000419393:R497Q;ENSP00000418225:R393Q;ENSP00000420736:R499Q;ENSP00000418524:R496Q;ENSP00000418102:R497Q;ENSP00000417857:R421Q;ENSP00000418883:R497Q	ENSP00000318902:R497Q	R	-	2	0	FOXP1	71108822	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	CGA	FOXP1	-	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	ENSG00000114861		0.418	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1	-	0.00	55	0	C	NM_032682		71026132	-1	tier1	-	no_errors	ENST00000318789	ensembl	human	known	74_37	missense	9.68	56	6	SNP	1.000	T
FOXP4	116113	genome.wustl.edu	37	6	41554855	41554855	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:41554855C>T	ENST00000307972.4	+	5	631	c.619C>T	c.(619-621)Ccc>Tcc	p.P207S	FOXP4_ENST00000373063.3_Missense_Mutation_p.P207S|FOXP4_ENST00000373057.3_Missense_Mutation_p.P205S|FOXP4_ENST00000373060.1_Missense_Mutation_p.P207S|FOXP4_ENST00000409208.1_Missense_Mutation_p.P207S			Q8IVH2	FOXP4_HUMAN	forkhead box P4	207	Gln-rich.				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)					CAGCCTGCAGCCCAACCAAGC	0.652											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													20.0	25.0	23.0					6																	41554855		2199	4291	6490	SO:0001583	missense	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.619C>T	6.37:g.41554855C>T	ENSP00000309823:p.Pro207Ser	902	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P207S	ENST00000307972.4	37	c.619	CCDS34447.1	6	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044881	0.36085	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	4.32	3.42	0.39159	.	0.067779	0.64402	D	0.000012	T	0.32436	0.0829	L	0.45228	1.405	0.44862	D	0.997878	B;B;P	0.39748	0.004;0.004;0.686	B;B;B	0.40228	0.003;0.003;0.323	T	0.17440	-1.0369	10	0.51188	T	0.08	.	7.4699	0.27342	0.0:0.7382:0.17:0.0917	.	207;205;207	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	S	207;207;207;205;207	ENSP00000362151:P207S;ENSP00000362154:P207S;ENSP00000386958:P207S;ENSP00000362148:P205S;ENSP00000309823:P207S	ENSP00000309823:P207S	P	+	1	0	FOXP4	41662833	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.832000	0.55783	0.751000	0.32900	0.462000	0.41574	CCC	FOXP4	-	NULL	ENSG00000137166		0.652	FOXP4-002	KNOWN	basic|CCDS	protein_coding	FOXP4	HGNC	protein_coding	OTTHUMT00000106767.1		0.00	9	0	C	NM_138457		41554855	+1			no_errors	ENST00000307972	ensembl	human	known	74_37	missense	62.50	3	5	SNP	1.000	T
FPGS	2356	genome.wustl.edu	37	9	130569113	130569113	+	Intron	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:130569113delG	ENST00000373247.2	+	5	436				FPGS_ENST00000460181.1_Intron|FPGS_ENST00000373225.3_Intron|FPGS_ENST00000373245.1_Intron|FPGS_ENST00000393706.2_Intron	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase						brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	CAGATAGTCCGGGGGGATGGG	0.612																																																	0																																										SO:0001627	intron_variant	0				CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.387-139G>-	9.37:g.130569113delG			B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	RNA	DEL	-	NULL	ENST00000373247.2	37	NULL	CCDS35148.1	9																																																																																			FPGS	-	-	ENSG00000136877		0.612	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGS	HGNC	protein_coding	OTTHUMT00000054251.1		0.00	42	0	G			130569113	+1	tier1		no_errors	ENST00000497386	ensembl	human	known	74_37	rna	47.06	18	16	DEL	0.007	-
FRAS1	80144	genome.wustl.edu	37	4	79350351	79350351	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:79350351C>T	ENST00000325942.6	+	36	5254	c.4814C>T	c.(4813-4815)gCg>gTg	p.A1605V	FRAS1_ENST00000264895.6_Missense_Mutation_p.A1605V	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1605					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCACGGCTGGCGGTCAGCCCA	0.527																																																	0													45.0	47.0	46.0					4																	79350351		2031	4194	6225	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4814C>T	4.37:g.79350351C>T	ENSP00000326330:p.Ala1605Val		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.A1605V	ENST00000325942.6	37	c.4814	CCDS54772.1	4	.	.	.	.	.	.	.	.	.	.	C	8.224	0.803121	0.16397	.	.	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000545316	T;T	0.26810	1.71;1.71	5.61	-3.42	0.04825	.	0.464702	0.23551	N	0.046968	T	0.05868	0.0153	N	0.01464	-0.85	0.36609	D	0.875129	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.0	T	0.16928	-1.0386	10	0.37606	T	0.19	.	1.0112	0.01498	0.4855:0.1145:0.1859:0.214	.	1605;1605	E9PHH6;A2RRR8	.;.	V	1605;1605;25	ENSP00000326330:A1605V;ENSP00000264895:A1605V	ENSP00000264895:A1605V	A	+	2	0	FRAS1	79569375	1.000000	0.71417	0.002000	0.10522	0.004000	0.04260	2.678000	0.46900	-0.804000	0.04410	-2.513000	0.00187	GCG	FRAS1	-	NULL	ENSG00000138759		0.527	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	-	0.00	91	0	C			79350351	+1	tier1	-	no_errors	ENST00000264895	ensembl	human	known	74_37	missense	42.72	59	44	SNP	0.277	T
FRAS1	80144	genome.wustl.edu	37	4	79371317	79371317	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:79371317G>A	ENST00000264895.6	+	45	6727	c.6287G>A	c.(6286-6288)cGc>cAc	p.R2096H		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2096					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTGTAGCACGCATCACAGAA	0.458																																																	0													96.0	89.0	91.0					4																	79371317		1951	4156	6107	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.6287G>A	4.37:g.79371317G>A	ENSP00000264895:p.Arg2096His		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.R2096H	ENST00000264895.6	37	c.6287	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	G	1.208	-0.630651	0.03584	.	.	ENSG00000138759	ENST00000264895	T	0.42131	0.98	5.9	2.31	0.28768	.	0.361243	0.30911	N	0.008621	T	0.26340	0.0643	L	0.38531	1.155	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.15723	-1.0427	10	0.27082	T	0.32	.	4.1055	0.10035	0.1909:0.2086:0.5021:0.0984	.	2096	E9PHH6	.	H	2096	ENSP00000264895:R2096H	ENSP00000264895:R2096H	R	+	2	0	FRAS1	79590341	0.726000	0.28059	0.981000	0.43875	0.019000	0.09904	0.348000	0.20031	0.125000	0.18397	-0.961000	0.02630	CGC	FRAS1	-	NULL	ENSG00000138759		0.458	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		-	0.00	68	0	G			79371317	+1	tier1	-	no_errors	ENST00000264895	ensembl	human	known	74_37	missense	35.85	34	19	SNP	0.025	A
FREM2	341640	genome.wustl.edu	37	13	39432168	39432168	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:39432168A>C	ENST00000280481.7	+	13	7429	c.7213A>C	c.(7213-7215)Aca>Cca	p.T2405P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2405					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CATCTGTATCACAGTGAGTAG	0.358																																																	0													147.0	127.0	134.0					13																	39432168		2203	4300	6503	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.7213A>C	13.37:g.39432168A>C	ENSP00000280481:p.Thr2405Pro		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.T2405P	ENST00000280481.7	37	c.7213	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	A	27.8	4.865617	0.91511	.	.	ENSG00000150893	ENST00000280481	D	0.81821	-1.54	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.89733	0.6800	M	0.88842	2.985	0.80722	D	1	D;D	0.60160	0.987;0.96	P;P	0.58013	0.831;0.682	D	0.91725	0.5392	10	0.87932	D	0	.	16.0869	0.81060	1.0:0.0:0.0:0.0	.	2405;2405	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	P	2405	ENSP00000280481:T2405P	ENSP00000280481:T2405P	T	+	1	0	FREM2	38330168	1.000000	0.71417	0.991000	0.47740	0.979000	0.70002	6.230000	0.72301	2.200000	0.70718	0.533000	0.62120	ACA	FREM2	-	NULL	ENSG00000150893		0.358	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	-	0.00	78	0	A	NM_207361		39432168	+1	tier1	-	no_errors	ENST00000280481	ensembl	human	known	74_37	missense	24.37	90	29	SNP	1.000	C
FRMD4A	55691	genome.wustl.edu	37	10	13696452	13696452	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:13696452delG	ENST00000357447.2	-	23	3382	c.3014delC	c.(3013-3015)ccafs	p.P1005fs	FRMD4A_ENST00000378503.1_Frame_Shift_Del_p.P1005fs|FRMD4A_ENST00000358621.4_Frame_Shift_Del_p.P990fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGCTGCTTGGGGGGGTGGC	0.537																																																	0													83.0	80.0	81.0					10																	13696452		2203	4300	6503	SO:0001589	frameshift_variant	0			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.3014delC	10.37:g.13696452delG	ENSP00000350032:p.Pro1005fs		A7E2Y3|Q5T377	Frame_Shift_Del	DEL	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.P1005fs	ENST00000357447.2	37	c.3014	CCDS7101.1	10																																																																																			FRMD4A	-	NULL	ENSG00000151474		0.537	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1		0.00	33	0	G	NM_018027		13696452	-1	tier1		no_errors	ENST00000357447	ensembl	human	known	74_37	frame_shift_del	54.84	14	17	DEL	1.000	-
FRMD6	122786	genome.wustl.edu	37	14	52156598	52156598	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:52156598G>T	ENST00000344768.5	+	2	240	c.44G>T	c.(43-45)cGc>cTc	p.R15L	RNA5SP385_ENST00000515947.1_RNA|FRMD6_ENST00000395718.2_Missense_Mutation_p.R15L|FRMD6_ENST00000356218.4_Missense_Mutation_p.R15L			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	15					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					ATGCAAGACCGCCGCAGTGTG	0.423																																																	0													107.0	89.0	95.0					14																	52156598		2203	4300	6503	SO:0001583	missense	0			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.44G>T	14.37:g.52156598G>T	ENSP00000343899:p.Arg15Leu		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.R15L	ENST00000344768.5	37	c.44	CCDS58318.1	14	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542800	0.86022	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554778	T;T;T	0.78707	-1.2;-1.2;-0.99	5.87	5.87	0.94306	Band 4.1 domain (1);	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	L	0.27053	0.805	0.80722	D	1	B;P	0.36633	0.426;0.562	B;B	0.36418	0.112;0.224	T	0.69320	-0.5176	10	0.40728	T	0.16	.	18.9758	0.92736	0.0:0.0:1.0:0.0	.	15;15	Q96NE9;Q96NE9-2	FRMD6_HUMAN;.	L	15	ENSP00000348550:R15L;ENSP00000379068:R15L;ENSP00000343899:R15L	ENSP00000343899:R15L	R	+	2	0	FRMD6	51226348	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.988000	0.93501	2.779000	0.95612	0.591000	0.81541	CGC	FRMD6	-	smart_Band_41_domain	ENSG00000139926		0.423	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1		0.00	51	0	G	NM_152330		52156598	+1			no_errors	ENST00000344768	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T
FRZB	2487	genome.wustl.edu	37	2	183731079	183731079	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:183731079C>T	ENST00000295113.4	-	1	811	c.202G>A	c.(202-204)Gcc>Acc	p.A68T		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	68	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TGCTCGATGGCCAGGATGGCG	0.607																																																	0													109.0	89.0	96.0					2																	183731079		2203	4300	6503	SO:0001583	missense	0			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.202G>A	2.37:g.183731079C>T	ENSP00000295113:p.Ala68Thr		O00181|Q99686	Missense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.A68T	ENST00000295113.4	37	c.202	CCDS2286.1	2	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414361	0.83449	.	.	ENSG00000162998	ENST00000295113	T	0.75367	-0.93	4.91	4.91	0.64330	Frizzled domain (5);	0.000000	0.85682	D	0.000000	T	0.80665	0.4666	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.81707	-0.0810	10	0.59425	D	0.04	.	14.773	0.69693	0.1445:0.8555:0.0:0.0	.	68	Q92765	SFRP3_HUMAN	T	68	ENSP00000295113:A68T	ENSP00000295113:A68T	A	-	1	0	FRZB	183439324	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.680000	0.68168	2.530000	0.85305	0.561000	0.74099	GCC	FRZB	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000162998		0.607	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRZB	HGNC	protein_coding	OTTHUMT00000255808.1	-	0.00	115	0	C	NM_001463		183731079	-1	tier1	-	no_errors	ENST00000295113	ensembl	human	known	74_37	missense	41.67	49	35	SNP	1.000	T
FSIP2	401024	genome.wustl.edu	37	2	186658445	186658445	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:186658445delA	ENST00000424728.1	+	16	6582	c.6582delA	c.(6580-6582)ccafs	p.P2194fs	AC008174.3_ENST00000436557.1_RNA|FSIP2_ENST00000343098.5_Frame_Shift_Del_p.P2283fs|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	2194										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATACGTTTCCAAAAATAGACT	0.368																																																	0																																										SO:0001589	frameshift_variant	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.6582delA	2.37:g.186658445delA	ENSP00000401306:p.Pro2194fs		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Frame_Shift_Del	DEL	NULL	p.I2285fs	ENST00000424728.1	37	c.6849		2																																																																																			FSIP2	-	NULL	ENSG00000188738		0.368	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3		0.00	16	0	A	NM_173651		186658445	+1	tier1		no_errors	ENST00000343098	ensembl	human	known	74_37	frame_shift_del	25.93	20	7	DEL	0.143	-
FSIP2	401024	genome.wustl.edu	37	2	186666048	186666048	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:186666048G>A	ENST00000424728.1	+	17	12015	c.12015G>A	c.(12013-12015)gaG>gaA	p.E4005E	AC008174.3_ENST00000436557.1_RNA|FSIP2_ENST00000343098.5_Silent_p.E4094E|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	4005										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GGCTCAATGAGATGAATACAT	0.353																																																	0																																										SO:0001819	synonymous_variant	0			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.12015G>A	2.37:g.186666048G>A			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.E4094	ENST00000424728.1	37	c.12282		2																																																																																			FSIP2	-	NULL	ENSG00000188738		0.353	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	0.00	51	0	G	NM_173651		186666048	+1	tier1	-	no_errors	ENST00000343098	ensembl	human	known	74_37	silent	42.31	30	22	SNP	0.986	A
FTMT	94033	genome.wustl.edu	37	5	121187966	121187966	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:121187966G>A	ENST00000321339.1	+	1	317	c.308G>A	c.(307-309)cGg>cAg	p.R103Q		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	103	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TACTTCTCCCGGGATGACGTG	0.572																																																	0													83.0	66.0	72.0					5																	121187966		2203	4300	6503	SO:0001583	missense	0			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.308G>A	5.37:g.121187966G>A	ENSP00000313691:p.Arg103Gln			Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	p.R103Q	ENST00000321339.1	37	c.308	CCDS4128.1	5	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987843	0.74589	.	.	ENSG00000181867	ENST00000321339	T	0.70164	-0.46	3.57	3.57	0.40892	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.000000	0.64402	D	0.000001	T	0.67646	0.2915	M	0.69358	2.11	0.58432	D	0.999993	P	0.52692	0.955	P	0.45998	0.5	T	0.74115	-0.3769	10	0.62326	D	0.03	.	13.4949	0.61419	0.0:0.0:1.0:0.0	.	103	Q8N4E7	FTMT_HUMAN	Q	103	ENSP00000313691:R103Q	ENSP00000313691:R103Q	R	+	2	0	FTMT	121215865	1.000000	0.71417	0.663000	0.29738	0.977000	0.68977	5.929000	0.70096	2.294000	0.77228	0.655000	0.94253	CGG	FTMT	-	pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron	ENSG00000181867		0.572	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTMT	HGNC	protein_coding	OTTHUMT00000250884.1	-	0.00	47	0	G	NM_177478		121187966	+1	tier1	-	no_errors	ENST00000321339	ensembl	human	known	74_37	missense	36.54	33	19	SNP	0.999	A
MAD1L1	8379	genome.wustl.edu	37	7	2275111	2275111	+	5'Flank	SNP	G	G	A	rs373883494		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:2275111G>A	ENST00000406869.1	-	0	0				MAD1L1_ENST00000265854.7_5'Flank|MAD1L1_ENST00000399654.2_5'Flank|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000242257.8_Silent_p.D129D|MAD1L1_ENST00000402746.1_5'Flank|FTSJ2_ENST00000407040.1_Silent_p.D35D			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GGTCAGTCACGTCAGCAGGGC	0.542																																																	0													79.0	76.0	77.0					7																	2275111		2203	4300	6503	SO:0001631	upstream_gene_variant	0			U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493		7.37:g.2275111G>A	Exception_encountered		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E	p.D129	ENST00000406869.1	37	c.387	CCDS43539.1	7																																																																																			FTSJ2	-	pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E	ENSG00000122687		0.542	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FTSJ2	HGNC	protein_coding	OTTHUMT00000322871.1	-	0.00	38	0	G	NM_003550		2275111	-1	tier1	-	no_errors	ENST00000242257	ensembl	human	known	74_37	silent	34.29	23	12	SNP	1.000	A
FUBP1	8880	genome.wustl.edu	37	1	78444659	78444659	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:78444659delG	ENST00000370768.2	-	1	111	c.30delC	c.(28-30)cccfs	p.P10fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.P10fs|FUBP1_ENST00000370767.1_Frame_Shift_Del_p.P10fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	10					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGCCAGAAGAGGGGGGAGGCA	0.557			"""F, N"""		oligodendroglioma																																			Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0													37.0	42.0	40.0					1																	78444659		2203	4300	6503	SO:0001589	frameshift_variant	0			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.30delC	1.37:g.78444659delG	ENSP00000359804:p.Pro10fs		Q12828	Frame_Shift_Del	DEL	pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1	p.S11fs	ENST00000370768.2	37	c.30	CCDS683.1	1																																																																																			FUBP1	-	NULL	ENSG00000162613		0.557	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP1	HGNC	protein_coding	OTTHUMT00000098030.3		0.00	112	0	G	NM_003902		78444659	-1	tier1		no_errors	ENST00000436586	ensembl	human	known	74_37	frame_shift_del	36.71	50	29	DEL	0.020	-
FUT7	2529	genome.wustl.edu	37	9	139926112	139926112	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139926112G>T	ENST00000314412.6	-	2	1097	c.79C>A	c.(79-81)Ctc>Atc	p.L27I	C9orf139_ENST00000314330.2_Intron	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	27					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|leukocyte migration involved in immune response (GO:0002522)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGGAGCCAGAGGGCAGCGAGC	0.711																																																	0													11.0	14.0	13.0					9																	139926112		2102	4149	6251	SO:0001583	missense	0			X78031, AB012668	CCDS7022.1	9q34.3	2013-02-26			ENSG00000180549	ENSG00000180549		"""Fucosyltransferases"""	4018	protein-coding gene	gene with protein product		602030				8207002, 8182079	Standard	NM_004479		Approved		uc004ckq.2	Q11130	OTTHUMG00000020964	ENST00000314412.6:c.79C>A	9.37:g.139926112G>T	ENSP00000318142:p.Leu27Ile		B2R7U7|Q6DK54	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.L27I	ENST00000314412.6	37	c.79	CCDS7022.1	9	.	.	.	.	.	.	.	.	.	.	g	0.250	-1.007446	0.02112	.	.	ENSG00000180549	ENST00000314412	T	0.27557	1.66	4.76	-2.26	0.06867	.	2.949500	0.01400	U	0.013545	T	0.18635	0.0447	N	0.25485	0.75	0.09310	N	0.999999	B	0.10296	0.003	B	0.18263	0.021	T	0.12553	-1.0543	10	0.07813	T	0.8	-8.5644	5.0487	0.14497	0.2897:0.0:0.4742:0.2361	.	27	Q11130	FUT7_HUMAN	I	27	ENSP00000318142:L27I	ENSP00000318142:L27I	L	-	1	0	FUT7	139045933	0.203000	0.23435	0.010000	0.14722	0.065000	0.16274	0.122000	0.15687	-0.545000	0.06224	-2.345000	0.00244	CTC	FUT7	-	NULL	ENSG00000180549		0.711	FUT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT7	HGNC	protein_coding	OTTHUMT00000055220.1	-	0.00	21	0	G	NM_004479		139926112	-1	tier1	-	no_errors	ENST00000314412	ensembl	human	known	74_37	missense	41.67	7	5	SNP	0.026	T
FZD10	11211	genome.wustl.edu	37	12	130647719	130647719	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:130647719G>A	ENST00000229030.4	+	1	716	c.232G>A	c.(232-234)Ggc>Agc	p.G78S	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.R45Q			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	78	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGTGGAGTACGGCTGCCACGG	0.647																																																	0													39.0	38.0	39.0					12																	130647719		2200	4290	6490	SO:0001583	missense	0			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.232G>A	12.37:g.130647719G>A	ENSP00000229030:p.Gly78Ser			Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.G78S	ENST00000229030.4	37	c.232	CCDS9267.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.07|15.07	2.723823|2.723823	0.48728|0.48728	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	T|.	0.79940|.	-1.32|.	4.72|4.72	4.72|4.72	0.59763|0.59763	Frizzled domain (5);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.76004|0.76004	0.3927|0.3927	M|M	0.70595|0.70595	2.14|2.14	0.58432|0.58432	D|D	0.999999|0.999999	D|.	0.64830|.	0.994|.	P|.	0.58820|.	0.846|.	T|T	0.79995|0.79995	-0.1568|-0.1568	10|6	0.49607|0.87932	T|D	0.09|0	.|.	17.6734|17.6734	0.88224|0.88224	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	78|.	Q9ULW2|.	FZD10_HUMAN|.	S|Q	78|45	ENSP00000229030:G78S|.	ENSP00000229030:G78S|ENSP00000438460:R45Q	G|R	+|+	1|2	0|0	FZD10|FZD10	129213672|129213672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.496000|7.496000	0.81526|0.81526	2.160000|2.160000	0.67779|0.67779	0.561000|0.561000	0.74099|0.74099	GGC|CGG	FZD10	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom	ENSG00000111432		0.647	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD10	HGNC	protein_coding		-	0.00	33	0	G			130647719	+1	tier1	-	no_errors	ENST00000229030	ensembl	human	known	74_37	missense	62.50	9	15	SNP	1.000	A
FZD10	11211	genome.wustl.edu	37	12	130648109	130648109	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:130648109G>A	ENST00000229030.4	+	1	1106	c.622G>A	c.(622-624)Gcg>Acg	p.A208T	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.R175H			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	208					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGCGTCGTGCGCGCCGCTCTG	0.711																																																	0													31.0	27.0	28.0					12																	130648109		2201	4298	6499	SO:0001583	missense	0			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.622G>A	12.37:g.130648109G>A	ENSP00000229030:p.Ala208Thr			Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.A208T	ENST00000229030.4	37	c.622	CCDS9267.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.21|16.21	3.058070|3.058070	0.55325|0.55325	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000229030|ENST00000539839	T|.	0.78126|.	-1.15|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.75671|0.75671	0.3881|0.3881	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D|.	0.60160|.	0.987|.	P|.	0.48552|.	0.581|.	T|T	0.78894|0.78894	-0.2024|-0.2024	10|6	0.51188|0.87932	T|D	0.08|0	.|.	18.4013|18.4013	0.90518|0.90518	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	208|.	Q9ULW2|.	FZD10_HUMAN|.	T|H	208|175	ENSP00000229030:A208T|.	ENSP00000229030:A208T|ENSP00000438460:R175H	A|R	+|+	1|2	0|0	FZD10|FZD10	129214062|129214062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	9.643000|9.643000	0.98464|0.98464	2.336000|2.336000	0.79503|0.79503	0.491000|0.491000	0.48974|0.48974	GCG|CGC	FZD10	-	NULL	ENSG00000111432		0.711	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD10	HGNC	protein_coding			0.00	19	0	G			130648109	+1			no_errors	ENST00000229030	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	A
FZR1	51343	genome.wustl.edu	37	19	3534441	3534441	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:3534441C>T	ENST00000395095.3	+	12	1370	c.1370C>T	c.(1369-1371)gCc>gTc	p.A457V	FZR1_ENST00000441788.2_Missense_Mutation_p.A457V|FZR1_ENST00000313639.8_Missense_Mutation_p.A368V	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	457					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGGGGAGGCCATCGTCACT	0.597																																																	0													98.0	77.0	84.0					19																	3534441		2199	4298	6497	SO:0001583	missense	0			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1370C>T	19.37:g.3534441C>T	ENSP00000378529:p.Ala457Val		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A457V	ENST00000395095.3	37	c.1370	CCDS45916.1	19	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379670	0.82682	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.58060	0.36;0.36;0.36	5.12	5.12	0.69794	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.112648	0.64402	N	0.000013	T	0.48750	0.1517	N	0.02315	-0.6	0.80722	D	1	B;B;D	0.65815	0.016;0.095;0.995	B;B;D	0.66716	0.021;0.09;0.946	T	0.66348	-0.5946	10	0.62326	D	0.03	-38.7451	17.1378	0.86744	0.0:1.0:0.0:0.0	.	457;368;457	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	V	457;457;368	ENSP00000410369:A457V;ENSP00000378529:A457V;ENSP00000321800:A368V	ENSP00000321800:A368V	A	+	2	0	FZR1	3485441	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.523000	0.81856	2.381000	0.81170	0.561000	0.74099	GCC	FZR1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000105325		0.597	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FZR1	HGNC	protein_coding	OTTHUMT00000452869.2	-	0.00	75	0	C	NM_016263		3534441	+1	tier1	-	no_errors	ENST00000395095	ensembl	human	known	74_37	missense	39.19	45	29	SNP	1.000	T
G2E3	55632	genome.wustl.edu	37	14	31066642	31066642	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:31066642C>T	ENST00000206595.6	+	7	699	c.545C>T	c.(544-546)gCg>gTg	p.A182V	G2E3_ENST00000438909.2_Missense_Mutation_p.A136V|G2E3_ENST00000553504.1_Missense_Mutation_p.A212V|G2E3_ENST00000544007.1_3'UTR	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	182					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A182V(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCAATAAATGCGGGAGTGTTT	0.313																																																	1	Substitution - Missense(1)	prostate(1)											147.0	164.0	158.0					14																	31066642		2203	4299	6502	SO:0001583	missense	0			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.545C>T	14.37:g.31066642C>T	ENSP00000206595:p.Ala182Val		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT	p.A182V	ENST00000206595.6	37	c.545	CCDS9638.1	14	.	.	.	.	.	.	.	.	.	.	C	33	5.216967	0.95104	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.62941	-0.01;-0.01;-0.01	5.67	5.67	0.87782	Zinc finger, RING-type (1);Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.82591	0.5070	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.934;0.996	D	0.83933	0.0307	10	0.66056	D	0.02	-16.4834	20.1169	0.97940	0.0:1.0:0.0:0.0	.	136;182	B4DIF9;Q7L622	.;G2E3_HUMAN	V	182;136;212	ENSP00000206595:A182V;ENSP00000391068:A136V;ENSP00000451653:A212V	ENSP00000206595:A182V	A	+	2	0	G2E3	30136393	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.774000	0.75012	2.835000	0.97688	0.591000	0.81541	GCG	G2E3	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000092140		0.313	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G2E3	HGNC	protein_coding	OTTHUMT00000276613.2	-	0.00	23	0	C	NM_017769		31066642	+1	tier1	-	no_errors	ENST00000206595	ensembl	human	known	74_37	missense	32.50	27	13	SNP	1.000	T
GAA	2548	genome.wustl.edu	37	17	78078888	78078888	+	Missense_Mutation	SNP	G	G	T	rs376685205		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:78078888G>T	ENST00000302262.3	+	2	722	c.503G>T	c.(502-504)cGg>cTg	p.R168L	GAA_ENST00000390015.3_Missense_Mutation_p.R168L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	168					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CTGACCCTGCGGCTGGACGTG	0.652																																																	0													40.0	32.0	35.0					17																	78078888		2159	4232	6391	SO:0001583	missense	0				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.503G>T	17.37:g.78078888G>T	ENSP00000305692:p.Arg168Leu		Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.R168L	ENST00000302262.3	37	c.503	CCDS32760.1	17	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243436	0.39697	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.84589	-1.87;-1.87	4.85	-0.809	0.10864	Glycoside hydrolase-type carbohydrate-binding (1);	0.691790	0.14164	N	0.337151	T	0.77968	0.4210	L	0.45228	1.405	0.22531	N	0.999017	B	0.32040	0.353	B	0.35240	0.198	T	0.66288	-0.5961	10	0.40728	T	0.16	-25.7499	8.6003	0.33740	0.7423:0.0:0.2577:0.0	.	168	P10253	LYAG_HUMAN	L	168	ENSP00000305692:R168L;ENSP00000374665:R168L	ENSP00000305692:R168L	R	+	2	0	GAA	75693483	0.000000	0.05858	0.207000	0.23584	0.961000	0.63080	-0.166000	0.09954	-0.030000	0.13804	0.591000	0.81541	CGG	GAA	-	superfamily_Gal_mutarotase_SF_dom	ENSG00000171298		0.652	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	-	0.00	54	0	G			78078888	+1	tier1	-	no_errors	ENST00000302262	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.822	T
GABRA1	2554	genome.wustl.edu	37	5	161300245	161300246	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:161300245_161300246insT	ENST00000428797.2	+	6	733_734	c.378_379insT	c.(379-381)tttfs	p.F127fs	GABRA1_ENST00000393943.4_Frame_Shift_Ins_p.F127fs|GABRA1_ENST00000420560.1_Frame_Shift_Ins_p.F127fs|GABRA1_ENST00000023897.6_Frame_Shift_Ins_p.F127fs|GABRA1_ENST00000444819.1_Frame_Shift_Ins_p.F127fs|GABRA1_ENST00000437025.2_Frame_Shift_Ins_p.F127fs	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	127					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CTCCGGACACATTTTTCCACAA	0.455																																																	0																																										SO:0001589	frameshift_variant	0				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.383dupT	5.37:g.161300250_161300250dupT	ENSP00000393097:p.Phe127fs		D3DQK6|Q8N629	Frame_Shift_Ins	INS	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.H128fs	ENST00000428797.2	37	c.378_379	CCDS4357.1	5																																																																																			GABRA1	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000022355		0.455	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA1	HGNC	protein_coding	OTTHUMT00000252702.2		0.00	61	0	-	NM_000806.5		161300246	+1	tier1		no_errors	ENST00000023897	ensembl	human	known	74_37	frame_shift_ins	25.71	52	18	INS	0.975:1.000	T
GABRB1	2560	genome.wustl.edu	37	4	47427773	47427773	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:47427773G>A	ENST00000295454.3	+	9	1455	c.1163G>A	c.(1162-1164)aGc>aAc	p.S388N	GABRB1_ENST00000538619.1_Missense_Mutation_p.S318N	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	388					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACGAGCGTGAGCGACCCCAAG	0.622																																																	0													59.0	62.0	61.0					4																	47427773		2203	4300	6503	SO:0001583	missense	0				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4081	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 1"""	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.1163G>A	4.37:g.47427773G>A	ENSP00000295454:p.Ser388Asn		B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.S388N	ENST00000295454.3	37	c.1163	CCDS3474.1	4	.	.	.	.	.	.	.	.	.	.	G	8.911	0.958802	0.18507	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	D;D	0.84516	-1.86;-1.86	5.48	4.64	0.57946	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.658250	0.14810	N	0.297102	T	0.80423	0.4620	L	0.52364	1.645	0.18873	N	0.999988	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.69320	-0.5176	10	0.41790	T	0.15	-7.1545	9.344	0.38098	0.1122:0.134:0.7538:0.0	.	318;388	F5GXV5;P18505	.;GBRB1_HUMAN	N	388;318	ENSP00000295454:S388N;ENSP00000440330:S318N	ENSP00000295454:S388N	S	+	2	0	GABRB1	47122530	0.516000	0.26218	0.463000	0.27130	0.035000	0.12851	1.869000	0.39519	1.547000	0.49401	0.650000	0.86243	AGC	GABRB1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000163288		0.622	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	HGNC	protein_coding	OTTHUMT00000216896.1	-	0.00	59	0	G			47427773	+1	tier1	-	no_errors	ENST00000295454	ensembl	human	known	74_37	missense	33.33	32	16	SNP	0.191	A
GABRB3	2562	genome.wustl.edu	37	15	26806289	26806289	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:26806289G>A	ENST00000311550.5	-	8	981	c.870C>T	c.(868-870)aaC>aaT	p.N290N	GABRB3_ENST00000541819.2_Silent_p.N346N|GABRB3_ENST00000400188.3_Silent_p.N219N|GABRB3_ENST00000545868.1_Silent_p.N205N|GABRB3_ENST00000299267.4_Silent_p.N290N	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	290	Allosteric effector binding.				cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAAGGTGGGTGTTGATGGTTG	0.473																																																	0													179.0	165.0	169.0					15																	26806289		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.870C>T	15.37:g.26806289G>A			B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.N290	ENST00000311550.5	37	c.870	CCDS10019.1	15																																																																																			GABRB3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000166206		0.473	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	-	0.00	77	0	G			26806289	-1	tier1	-	no_errors	ENST00000299267	ensembl	human	known	74_37	silent	41.56	45	32	SNP	1.000	A
GABRD	2563	genome.wustl.edu	37	1	1961475	1961475	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:1961475G>A	ENST00000378585.4	+	9	1196	c.1113G>A	c.(1111-1113)acG>acA	p.T371T		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	371					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCGGCGTCACGCAGGAGCTGG	0.677																																																	0													34.0	36.0	36.0					1																	1961475		2202	4292	6494	SO:0001819	synonymous_variant	0			BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1113G>A	1.37:g.1961475G>A			Q8N4N9	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T371	ENST00000378585.4	37	c.1113	CCDS36.1	1																																																																																			GABRD	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAd_rcpt	ENSG00000187730		0.677	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	GABRD	HGNC	protein_coding	OTTHUMT00000098493.1	-	0.00	57	0	G	NM_000815		1961475	+1	tier1	-	no_errors	ENST00000378585	ensembl	human	known	74_37	silent	9.09	40	4	SNP	0.732	A
GABRG2	2566	genome.wustl.edu	37	5	161580287	161580288	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:161580287_161580288insA	ENST00000361925.4	+	9	1537_1538	c.1317_1318insA	c.(1318-1320)aaafs	p.K440fs	GABRG2_ENST00000356592.3_Frame_Shift_Ins_p.K448fs|GABRG2_ENST00000414552.2_Frame_Shift_Ins_p.K488fs|GABRG2_ENST00000393933.4_Frame_Shift_Ins_p.K345fs			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	440	Interaction with GABARAP. {ECO:0000255}.				adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCGCATTGCCAAAATGGACTC	0.485																																																	0																																										SO:0001589	frameshift_variant	0				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1321dupA	5.37:g.161580291_161580291dupA	ENSP00000354651:p.Lys440fs		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Frame_Shift_Ins	INS	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.M448fs	ENST00000361925.4	37	c.1341_1342	CCDS4358.1	5																																																																																			GABRG2	-	superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt	ENSG00000113327		0.485	GABRG2-002	KNOWN	basic|CCDS	protein_coding	GABRG2	HGNC	protein_coding	OTTHUMT00000252706.1		0.00	71	0	-			161580288	+1	tier1		no_errors	ENST00000356592	ensembl	human	known	74_37	frame_shift_ins	35.09	37	20	INS	1.000:1.000	A
GAK	2580	genome.wustl.edu	37	4	870338	870338	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:870338G>T	ENST00000314167.4	-	18	2144	c.2034C>A	c.(2032-2034)gcC>gcA	p.A678A	GAK_ENST00000511163.1_Silent_p.A599A	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	678	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCACAGTGGTGGCGTTCCGAG	0.582																																																	0													163.0	134.0	144.0					4																	870338		2203	4300	6503	SO:0001819	synonymous_variant	0			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2034C>A	4.37:g.870338G>T			Q5U4P5|Q9BVY6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain	p.A678	ENST00000314167.4	37	c.2034	CCDS3340.1	4																																																																																			GAK	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom	ENSG00000178950		0.582	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAK	HGNC	protein_coding	OTTHUMT00000239188.1	-	0.00	59	0	G	NM_005255		870338	-1	tier1	-	no_errors	ENST00000314167	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.060	T
GAK	2580	genome.wustl.edu	37	4	884355	884355	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:884355delG	ENST00000314167.4	-	10	1156	c.1046delC	c.(1045-1047)cctfs	p.P350fs	GAK_ENST00000511163.1_Frame_Shift_Del_p.P271fs	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	350	Poly-Pro.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GCCCACGGGAGGGGGTGGCCC	0.647																																																	0													31.0	34.0	33.0					4																	884355		2195	4297	6492	SO:0001589	frameshift_variant	0			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1046delC	4.37:g.884355delG	ENSP00000314499:p.Pro350fs		Q5U4P5|Q9BVY6	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_Kinase-like_dom,superfamily_DnaJ_domain,superfamily_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_domain,pfscan_Prot_kinase_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain	p.P349fs	ENST00000314167.4	37	c.1046	CCDS3340.1	4																																																																																			GAK	-	NULL	ENSG00000178950		0.647	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAK	HGNC	protein_coding	OTTHUMT00000239188.1		0.00	79	0	G	NM_005255		884355	-1	tier1		no_errors	ENST00000314167	ensembl	human	known	74_37	frame_shift_del	40.91	39	27	DEL	0.018	-
GAL3ST1	9514	genome.wustl.edu	37	22	30951276	30951276	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:30951276G>A	ENST00000402321.1	-	3	1253	c.936C>T	c.(934-936)aaC>aaT	p.N312N	GAL3ST1_ENST00000402369.1_Silent_p.N312N|GAL3ST1_ENST00000406955.1_Silent_p.N312N|GAL3ST1_ENST00000443111.2_Silent_p.N312N|GAL3ST1_ENST00000406361.1_Silent_p.N312N|GAL3ST1_ENST00000338911.5_Silent_p.N312N|GAL3ST1_ENST00000401975.1_Silent_p.N312N			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	312					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						AGAAGCTGGCGTTGAAGTGGC	0.716																																																	0													17.0	20.0	19.0					22																	30951276		2197	4290	6487	SO:0001819	synonymous_variant	0			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.936C>T	22.37:g.30951276G>A			Q96C63	Silent	SNP	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.N312	ENST00000402321.1	37	c.936	CCDS13879.1	22																																																																																			GAL3ST1	-	pfam_Gal-3-0_sulfotransfrase	ENSG00000128242		0.716	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAL3ST1	HGNC	protein_coding	OTTHUMT00000321745.1	-	0.00	96	0	G	NM_004861		30951276	-1	tier1	-	no_errors	ENST00000338911	ensembl	human	known	74_37	silent	32.05	51	25	SNP	1.000	A
GAL3ST1	9514	genome.wustl.edu	37	22	30953322	30953322	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:30953322C>T	ENST00000402321.1	-	2	375	c.58G>A	c.(58-60)Gcg>Acg	p.A20T	GAL3ST1_ENST00000402369.1_Missense_Mutation_p.A20T|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.A20T|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.A20T|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.A20T|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.A20T|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.A20T			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	20					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GTGAAGAGCGCGCCCAGCACC	0.637																																																	0													89.0	94.0	92.0					22																	30953322		2203	4300	6503	SO:0001583	missense	0			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.58G>A	22.37:g.30953322C>T	ENSP00000385735:p.Ala20Thr		Q96C63	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.A20T	ENST00000402321.1	37	c.58	CCDS13879.1	22	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889973	0.33348	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111;ENST00000441967;ENST00000431313;ENST00000452827;ENST00000437282;ENST00000416358;ENST00000427899;ENST00000423299;ENST00000443136;ENST00000423371;ENST00000428682;ENST00000453479;ENST00000426220;ENST00000447224;ENST00000411821;ENST00000445645;ENST00000448604	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46	5.76	4.67	0.58626	.	0.318689	0.34046	N	0.004319	T	0.07369	0.0186	N	0.12471	0.22	0.21762	N	0.999555	B	0.24882	0.113	B	0.17722	0.019	T	0.32613	-0.9900	10	0.15952	T	0.53	-16.468	5.405	0.16316	0.1909:0.632:0.0:0.1772	.	20	Q99999	G3ST1_HUMAN	T	20	ENSP00000385825:A20T;ENSP00000385735:A20T;ENSP00000384122:A20T;ENSP00000384388:A20T;ENSP00000343234:A20T;ENSP00000385207:A20T;ENSP00000402587:A20T;ENSP00000390545:A20T;ENSP00000395080:A20T;ENSP00000405017:A20T;ENSP00000401426:A20T;ENSP00000391485:A20T;ENSP00000397092:A20T;ENSP00000391996:A20T;ENSP00000405381:A20T;ENSP00000401074:A20T;ENSP00000389876:A20T;ENSP00000398380:A20T;ENSP00000414542:A20T;ENSP00000412995:A20T;ENSP00000394912:A20T;ENSP00000399649:A20T;ENSP00000390068:A20T	ENSP00000343234:A20T	A	-	1	0	GAL3ST1	29283322	0.982000	0.34865	0.856000	0.33681	0.952000	0.60782	2.468000	0.45102	2.714000	0.92807	0.655000	0.94253	GCG	GAL3ST1	-	pfam_Gal-3-0_sulfotransfrase	ENSG00000128242		0.637	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAL3ST1	HGNC	protein_coding	OTTHUMT00000321745.1	-	0.00	45	0	C	NM_004861		30953322	-1	tier1	-	no_errors	ENST00000338911	ensembl	human	known	74_37	missense	50.00	8	8	SNP	0.021	T
GAL3ST3	89792	genome.wustl.edu	37	11	65810450	65810450	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:65810450C>T	ENST00000312006.4	-	3	1105	c.824G>A	c.(823-825)cGc>cAc	p.R275H	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R275H	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	275					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGCGGCCAGGCGCGAGCTGGC	0.721																																																	0													6.0	7.0	6.0					11																	65810450		2121	4104	6225	SO:0001583	missense	0			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.824G>A	11.37:g.65810450C>T	ENSP00000308591:p.Arg275His		Q14D05	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase	p.R275H	ENST00000312006.4	37	c.824	CCDS8128.1	11	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963605	0.53507	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.26373	1.74;1.74	4.4	4.4	0.53042	.	0.077023	0.51477	D	0.000081	T	0.33760	0.0874	L	0.55990	1.75	0.41391	D	0.987618	D	0.67145	0.996	P	0.53722	0.733	T	0.10847	-1.0612	10	0.66056	D	0.02	-28.4214	8.6595	0.34084	0.0:0.8942:0.0:0.1058	.	275	Q96A11	G3ST3_HUMAN	H	275	ENSP00000308591:R275H;ENSP00000434829:R275H	ENSP00000308591:R275H	R	-	2	0	GAL3ST3	65567026	0.999000	0.42202	1.000000	0.80357	0.251000	0.25915	2.195000	0.42677	2.152000	0.67230	0.555000	0.69702	CGC	GAL3ST3	-	pfam_Gal-3-0_sulfotransfrase	ENSG00000175229		0.721	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST3	HGNC	protein_coding	OTTHUMT00000391052.1	-	0.00	11	0	C	NM_033036		65810450	-1	tier1	-	no_errors	ENST00000312006	ensembl	human	known	74_37	missense	40.00	9	6	SNP	1.000	T
LYPLA2	11313	genome.wustl.edu	37	1	24124802	24124804	+	IGR	DEL	TTT	TTT	-	rs563961013		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:24124802_24124804delTTT	ENST00000374514.3	+	0	1810				GALE_ENST00000470383.1_5'Flank|GALE_ENST00000374497.3_Intron	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TGCACTCACCttttttttttttt	0.542																																																	0																																										SO:0001628	intergenic_variant	0			AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961		1.37:g.24124811_24124813delTTT			Q7Z4Z2	RNA	DEL	-	NULL	ENST00000374514.3	37	NULL	CCDS241.1	1																																																																																			GALE	-	-	ENSG00000117308		0.542	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALE	HGNC	protein_coding	OTTHUMT00000008245.1		0.00	52	0	TTT			24124804	-1	tier1		no_errors	ENST00000467493	ensembl	human	known	74_37	rna	16.67	30	6	DEL	0.017:0.021:0.022	-
GALNT10	55568	genome.wustl.edu	37	5	153789185	153789185	+	Missense_Mutation	SNP	G	G	A	rs375000619		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:153789185G>A	ENST00000297107.6	+	9	1386	c.1249G>A	c.(1249-1251)Gct>Act	p.A417T	GALNT10_ENST00000377661.2_Missense_Mutation_p.A355T|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.A90T	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	417					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			ccacctctccgctggggatgt	0.537																																																	0								G	THR/ALA	0,4406		0,0,2203	101.0	109.0	107.0		1249	2.9	0.2	5		107	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT10	NM_198321.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	417/604	153789185	1,13005	2203	4300	6503	SO:0001583	missense	0			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1249G>A	5.37:g.153789185G>A	ENSP00000297107:p.Ala417Thr		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.A417T	ENST00000297107.6	37	c.1249	CCDS4325.1	5	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912363	0.33721	0.0	1.16E-4	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.65732	-0.17;-0.17;-0.17	5.08	2.92	0.33932	.	0.158123	0.56097	D	0.000032	T	0.46229	0.1382	N	0.21324	0.655	0.42271	D	0.992056	B;B;B	0.26672	0.156;0.007;0.008	B;B;B	0.30316	0.114;0.005;0.005	T	0.33904	-0.9850	10	0.22706	T	0.39	.	11.9725	0.53071	0.1717:0.0:0.8283:0.0	.	355;88;417	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	T	417;355;90	ENSP00000297107:A417T;ENSP00000366889:A355T;ENSP00000366885:A90T	ENSP00000297107:A417T	A	+	1	0	GALNT10	153769378	1.000000	0.71417	0.198000	0.23420	0.765000	0.43378	3.699000	0.54778	1.124000	0.41980	0.561000	0.74099	GCT	GALNT10	-	NULL	ENSG00000164574		0.537	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT10	HGNC	protein_coding	OTTHUMT00000252453.1	-	0.00	37	0	G	NM_198321		153789185	+1	tier1	-	no_errors	ENST00000297107	ensembl	human	known	74_37	missense	35.71	27	15	SNP	0.672	A
GALR1	2587	genome.wustl.edu	37	18	74962958	74962958	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:74962958G>A	ENST00000299727.3	+	1	454	c.454G>A	c.(454-456)Gcg>Acg	p.A152T		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	152					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GTCCCGCAACGCGCTGCTGGG	0.692																																																	0													52.0	46.0	48.0					18																	74962958		2203	4299	6502	SO:0001583	missense	0			U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.454G>A	18.37:g.74962958G>A	ENSP00000299727:p.Ala152Thr		Q4VBL7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt	p.A152T	ENST00000299727.3	37	c.454	CCDS12012.1	18	.	.	.	.	.	.	.	.	.	.	G	33	5.223530	0.95139	.	.	ENSG00000166573	ENST00000299727	T	0.40756	1.02	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.62060	0.2397	M	0.64080	1.96	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.67417	-0.5676	10	0.87932	D	0	.	16.7748	0.85548	0.0:0.0:1.0:0.0	.	152	P47211	GALR1_HUMAN	T	152	ENSP00000299727:A152T	ENSP00000299727:A152T	A	+	1	0	GALR1	73091946	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.555000	0.82223	2.044000	0.60594	0.591000	0.81541	GCG	GALR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt	ENSG00000166573		0.692	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR1	HGNC	protein_coding	OTTHUMT00000256362.1		0.00	26	0	G			74962958	+1			no_errors	ENST00000299727	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	A
GALR2	8811	genome.wustl.edu	37	17	74073035	74073035	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:74073035C>T	ENST00000329003.3	+	2	777	c.687C>T	c.(685-687)cgC>cgT	p.R229R	ZACN_ENST00000334586.5_5'Flank|ZACN_ENST00000392503.2_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	229					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GTGCCCGGCGCGCCAAGCGCA	0.697																																																	0													18.0	19.0	19.0					17																	74073035		2196	4290	6486	SO:0001819	synonymous_variant	0			AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.687C>T	17.37:g.74073035C>T			A5JUU4|Q32MN8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_GAL2_rcpt	p.R229	ENST00000329003.3	37	c.687	CCDS11739.1	17																																																																																			GALR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GAL2_rcpt	ENSG00000182687		0.697	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR2	HGNC	protein_coding	OTTHUMT00000394760.1	-	0.00	53	0	C			74073035	+1	tier1	-	no_errors	ENST00000329003	ensembl	human	known	74_37	silent	58.06	13	18	SNP	1.000	T
GAPDHS	26330	genome.wustl.edu	37	19	36034636	36034636	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:36034636C>T	ENST00000222286.4	+	9	1079	c.963C>T	c.(961-963)ctC>ctT	p.L321L	AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000589137.1_RNA|TMEM147_ENST00000222284.5_5'Flank|TMEM147_ENST00000392205.1_5'Flank|AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000590125.1_RNA|TMEM147_ENST00000392204.2_5'Flank	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	321					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGCCGCCTCGCCCAGCCTG	0.622																																																	0													51.0	53.0	53.0					19																	36034636		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.963C>T	19.37:g.36034636C>T			B2RC82|O60823|Q6JTT9|Q9HCU6	Silent	SNP	pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	p.L321	ENST00000222286.4	37	c.963	CCDS12465.1	19																																																																																			GAPDHS	-	pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,tigrfam_Glyceraldehyde-3-P_DH_1	ENSG00000105679		0.622	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPDHS	HGNC	protein_coding	OTTHUMT00000460423.1	-	0.00	72	0	C	NM_014364		36034636	+1	tier1	-	no_errors	ENST00000222286	ensembl	human	known	74_37	silent	41.54	38	27	SNP	0.952	T
GARS	2617	genome.wustl.edu	37	7	30661090	30661090	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:30661090G>T	ENST00000389266.3	+	11	1682	c.1441G>T	c.(1441-1443)Gta>Tta	p.V481L		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	481					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	AGTCCCACTTGTAGCTGAGAA	0.413																																																	0													191.0	188.0	189.0					7																	30661090		1894	4128	6022	SO:0001583	missense	0			AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.1441G>T	7.37:g.30661090G>T	ENSP00000373918:p.Val481Leu		B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,prints_tRNA-synt_gly,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_tRNA-synt_gly	p.V481L	ENST00000389266.3	37	c.1441	CCDS43564.1	7	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997958	0.74818	.	.	ENSG00000106105	ENST00000389266	D	0.86694	-2.16	5.64	5.64	0.86602	Aminoacyl-tRNA synthetase, class II (1);	0.162702	0.53938	D	0.000050	D	0.87649	0.6230	M	0.75884	2.315	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	D	0.83948	0.0315	10	0.62326	D	0.03	-7.6753	17.5762	0.87950	0.0:0.0:1.0:0.0	.	481	P41250	SYG_HUMAN	L	481	ENSP00000373918:V481L	ENSP00000373918:V481L	V	+	1	0	GARS	30627615	1.000000	0.71417	0.964000	0.40570	0.996000	0.88848	3.453000	0.52978	2.831000	0.97527	0.650000	0.86243	GTA	GARS	-	pfscan_aa-tRNA-synth_II,tigrfam_tRNA-synt_gly	ENSG00000106105		0.413	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GARS	HGNC	protein_coding	OTTHUMT00000327735.1		0.00	59	0	G	NM_002047		30661090	+1			no_errors	ENST00000389266	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
ZBTB37	84614	genome.wustl.edu	37	1	173834997	173834997	+	5'Flank	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:173834997G>A	ENST00000427304.1	+	0	0				GAS5_ENST00000363859.1_RNA|GAS5_ENST00000385578.2_RNA|GAS5_ENST00000364084.1_RNA|GAS5_ENST00000363840.1_RNA|SNORD78_ENST00000385582.1_RNA|ZBTB37_ENST00000432989.1_5'Flank|GAS5_ENST00000365524.1_RNA|ZBTB37_ENST00000367704.1_5'Flank|ZBTB37_ENST00000367702.1_5'Flank|GAS5_ENST00000363146.1_RNA|GAS5_ENST00000364822.2_RNA|GAS5-AS1_ENST00000602767.1_RNA	NM_001122770.1	NP_001116242.1	Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						ATACTTACCAGAACCATTAAG	0.408																																																	0																																										SO:0001631	upstream_gene_variant	0			AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274		1.37:g.173834997G>A	Exception_encountered		Q5TC80|Q96M87|Q9BQ88	RNA	SNP	-	NULL	ENST00000427304.1	37	NULL	CCDS44278.1	1																																																																																			GAS5	-	-	ENSG00000234741		0.408	ZBTB37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS5	HGNC	protein_coding		-	0.00	75	0	G	NM_032522		173834997	-1	tier1	-	no_errors	ENST00000414075	ensembl	human	known	74_37	rna	34.18	52	27	SNP	0.000	A
GATA3	2625	genome.wustl.edu	37	10	8105978	8105979	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:8105978_8105979insG	ENST00000346208.3	+	4	1253_1254	c.798_799insG	c.(799-801)gggfs	p.G267fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.G268fs|GATA3_ENST00000461472.1_Intron			P23771	GATA3_HUMAN	GATA binding protein 3	267					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GTGTGAACTGTGGGGCAACCTC	0.564			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																																	Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.802dupG	10.37:g.8105982_8105982dupG	ENSP00000341619:p.Gly267fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.A268fs	ENST00000346208.3	37	c.801_802	CCDS7083.1	10																																																																																			GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	ENSG00000107485		0.564	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1		0.00	66	0	-	NM_001002295		8105979	+1	tier1		no_errors	ENST00000379328	ensembl	human	known	74_37	frame_shift_ins	43.10	33	25	INS	0.984:1.000	G
GBE1	2632	genome.wustl.edu	37	3	81635292	81635292	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:81635292delC	ENST00000429644.2	-	10	1929	c.1286delG	c.(1285-1287)ggtfs	p.G430fs	GBE1_ENST00000489715.1_Frame_Shift_Del_p.G389fs	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	430					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GTCAAAACCACCCCCTCCCTG	0.398									Glycogen Storage Disease, type IV																																								0													127.0	125.0	125.0					3																	81635292		1863	4096	5959	SO:0001589	frameshift_variant	0	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1286delG	3.37:g.81635292delC	ENSP00000410833:p.Gly430fs		B3KWV3|Q96EN0	Frame_Shift_Del	DEL	pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.G429fs	ENST00000429644.2	37	c.1286	CCDS54612.1	3																																																																																			GBE1	-	superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom	ENSG00000114480		0.398	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	HGNC	protein_coding	OTTHUMT00000352760.2		0.00	27	0	C			81635292	-1	tier1		no_errors	ENST00000429644	ensembl	human	known	74_37	frame_shift_del	36.84	24	14	DEL	0.014	-
GBF1	8729	genome.wustl.edu	37	10	104136853	104136853	+	Missense_Mutation	SNP	G	G	A	rs373502588		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:104136853G>A	ENST00000369983.3	+	33	4707	c.4447G>A	c.(4447-4449)Gtg>Atg	p.V1483M		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1483					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.V1483L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGACGAAGGCGTGCCTGCCAG	0.562																																																	1	Substitution - Missense(1)	large_intestine(1)						G	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	120.0	116.0	117.0		4450,4447,4447	5.0	1.0	10		117	0,8600		0,0,4300	no	missense,missense,missense	GBF1	NM_001199378.1,NM_001199379.1,NM_004193.2	21,21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1484/1857,1483/1856,1483/1860	104136853	1,13005	2203	4300	6503	SO:0001583	missense	0			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4447G>A	10.37:g.104136853G>A	ENSP00000359000:p.Val1483Met		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom	p.V1483M	ENST00000369983.3	37	c.4447	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889870	0.72524	2.27E-4	0.0	ENSG00000107862	ENST00000369983	T	0.10860	2.83	4.96	4.96	0.65561	.	0.056495	0.64402	D	0.000001	T	0.16128	0.0388	L	0.51422	1.61	0.51767	D	0.999936	D;P;P	0.54964	0.969;0.934;0.902	P;P;B	0.48840	0.592;0.587;0.441	T	0.00260	-1.1869	10	0.54805	T	0.06	-14.5452	12.2249	0.54455	0.0885:0.0:0.9115:0.0	.	1483;1483;1483	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	M	1483	ENSP00000359000:V1483M	ENSP00000359000:V1483M	V	+	1	0	GBF1	104126843	1.000000	0.71417	0.988000	0.46212	0.786000	0.44442	7.344000	0.79328	2.564000	0.86499	0.561000	0.74099	GTG	GBF1	-	NULL	ENSG00000107862		0.562	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	-	0.00	57	0	G			104136853	+1	tier1	-	no_errors	ENST00000369983	ensembl	human	known	74_37	missense	44.44	25	20	SNP	0.999	A
GBP3	2635	genome.wustl.edu	37	1	89473442	89473442	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:89473442delT	ENST00000370481.4	-	11	1973	c.1753delA	c.(1753-1755)accfs	p.T585fs		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	0					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TATCTCTTGGTTTTTTTTTTC	0.368																																																	0													224.0	219.0	221.0					1																	89473442		2203	4300	6503	SO:0001589	frameshift_variant	0			BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1753delA	1.37:g.89473442delT	ENSP00000359512:p.Thr585fs		A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Frame_Shift_Del	DEL	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.T585fs	ENST00000370481.4	37	c.1753	CCDS717.2	1																																																																																			GBP3	-	NULL	ENSG00000117226		0.368	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP3	HGNC	protein_coding	OTTHUMT00000313541.3		0.00	147	0	T	NM_018284		89473442	-1	tier1		no_errors	ENST00000370481	ensembl	human	known	74_37	frame_shift_del	31.76	116	54	DEL	0.000	-
GCC2	9648	genome.wustl.edu	37	2	109086477	109086477	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:109086477delA	ENST00000309863.6	+	6	1406	c.692delA	c.(691-693)caafs	p.Q231fs	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	231					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CAGCATTACCAAAAAAATATT	0.353																																																	0													64.0	74.0	70.0					2																	109086477		2203	4298	6501	SO:0001589	frameshift_variant	0			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.692delA	2.37:g.109086477delA	ENSP00000307939:p.Gln231fs		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Del	DEL	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.N233fs	ENST00000309863.6	37	c.692	CCDS33268.1	2																																																																																			GCC2	-	NULL	ENSG00000135968		0.353	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	HGNC	protein_coding	OTTHUMT00000358516.3		0.00	14	0	A	NM_014635		109086477	+1	tier1		no_errors	ENST00000309863	ensembl	human	known	74_37	frame_shift_del	20.00	16	4	DEL	1.000	-
GCFC2	6936	genome.wustl.edu	37	2	75916352	75916352	+	Splice_Site	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:75916352C>A	ENST00000321027.3	-	10	1473		c.e10-1		GCFC2_ENST00000409857.3_Splice_Site|GCFC2_ENST00000541687.1_Splice_Site|MRPL19_ENST00000358788.6_Intron	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	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)										AAAATGTCACCTGTAAACAAA	0.308																																																	0													49.0	55.0	53.0					2																	75916352		2203	4297	6500	SO:0001630	splice_region_variant	0			AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.1340-1G>T	2.37:g.75916352C>A			A4UHQ8|O95032|Q53TY0|Q6P2F2	Splice_Site	SNP	-	e10-1	ENST00000321027.3	37	c.1340-1	CCDS1961.1	2	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300635	0.60195	.	.	ENSG00000005436	ENST00000321027;ENST00000409857	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5264	0.75910	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C2orf3	75769860	1.000000	0.71417	0.995000	0.50966	0.813000	0.45954	6.780000	0.75063	2.322000	0.78497	0.462000	0.41574	.	GCFC2	-	-	ENSG00000005436		0.308	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCFC2	HGNC	protein_coding	OTTHUMT00000252255.2	-	0.00	27	0	C	NM_003203	Intron	75916352	-1	tier1	-	no_errors	ENST00000321027	ensembl	human	known	74_37	splice_site	32.35	23	11	SNP	1.000	A
GCGR	2642	genome.wustl.edu	37	17	79769607	79769607	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:79769607C>T	ENST00000400723.3	+	8	1031	c.738C>T	c.(736-738)ggC>ggT	p.G246G	GCGR_ENST00000570996.1_Silent_p.G276G	NM_000160.3	NP_000151.1	P47871	GLR_HUMAN	glucagon receptor	246					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|exocytosis (GO:0006887)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|hormone-mediated signaling pathway (GO:0009755)|positive regulation of GTPase activity (GO:0043547)|regulation of blood pressure (GO:0008217)|regulation of glycogen metabolic process (GO:0070873)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|guanyl-nucleotide exchange factor activity (GO:0005085)|peptide hormone binding (GO:0017046)			endometrium(2)	2					Glucagon recombinant(DB00040)	TGGTGGAGGGCCTGTACCTGC	0.642																																																	0													49.0	53.0	51.0					17																	79769607		692	1591	2283	SO:0001819	synonymous_variant	0			U03469, L20316	CCDS54177.1	17q25	2012-08-10			ENSG00000215644	ENSG00000215644		"""GPCR / Class B : Glucagon receptors"""	4192	protein-coding gene	gene with protein product		138033				8020989	Standard	XM_006722276		Approved	GGR	uc010wuw.2	P47871		ENST00000400723.3:c.738C>T	17.37:g.79769607C>T			Q2M3M5	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_glucagon_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt	p.G246	ENST00000400723.3	37	c.738	CCDS54177.1	17																																																																																			GCGR	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000215644		0.642	GCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCGR	HGNC	protein_coding	OTTHUMT00000439676.1	-	0.00	123	0	C	NM_000160		79769607	+1	tier1	-	no_errors	ENST00000400723	ensembl	human	known	74_37	silent	34.58	69	37	SNP	0.932	T
GDAP2	54834	genome.wustl.edu	37	1	118430389	118430389	+	Missense_Mutation	SNP	G	G	A	rs146263543		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:118430389G>A	ENST00000369443.5	-	9	1210	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	GDAP2_ENST00000369442.3_Missense_Mutation_p.R321C|GDAP2_ENST00000464026.1_5'UTR	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	321					response to retinoic acid (GO:0032526)	lysosomal membrane (GO:0005765)				kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		CATAACCAGCGATTATAACTA	0.318																																																	0								G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	71.0	77.0	75.0		961,961	5.5	1.0	1	dbSNP_134	75	0,8592		0,0,4296	no	missense,missense	GDAP2	NM_001135589.1,NM_017686.3	180,180	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	321/497,321/498	118430389	1,12997	2203	4296	6499	SO:0001583	missense	0			AK000149	CCDS897.1, CCDS44201.1	1q11	2011-10-20			ENSG00000196505	ENSG00000196505			18010	protein-coding gene	gene with protein product						1021725	Standard	NM_017686		Approved	FLJ20142, dJ776P7.1, MACROD3	uc001ehf.3	Q9NXN4	OTTHUMG00000012199	ENST00000369443.5:c.961C>T	1.37:g.118430389G>A	ENSP00000358451:p.Arg321Cys		Q96DZ0	Missense_Mutation	SNP	pfam_Macro_dom,superfamily_CRAL-TRIO_dom,smart_Macro_dom,smart_CRAL-TRIO_dom,pfscan_Macro_dom	p.R321C	ENST00000369443.5	37	c.961	CCDS897.1	1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663345	0.88251	2.27E-4	0.0	ENSG00000196505	ENST00000369443;ENST00000369442	T;T	0.40476	1.29;1.03	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.69914	-0.5016	10	0.87932	D	0	-10.4536	19.3651	0.94459	0.0:0.0:1.0:0.0	.	321;321	Q9NXN4-2;Q9NXN4	.;GDAP2_HUMAN	C	321	ENSP00000358451:R321C;ENSP00000358450:R321C	ENSP00000358450:R321C	R	-	1	0	GDAP2	118231912	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.768000	0.91737	2.577000	0.86979	0.585000	0.79938	CGC	GDAP2	-	NULL	ENSG00000196505		0.318	GDAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDAP2	HGNC	protein_coding	OTTHUMT00000033732.2	-	0.00	119	0	G	NM_017686		118430389	-1	tier1	rs146263543	no_errors	ENST00000369443	ensembl	human	known	74_37	missense	31.06	91	41	SNP	1.000	A
GFPT2	9945	genome.wustl.edu	37	5	179745817	179745817	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:179745817T>C	ENST00000253778.8	-	10	1103	c.934A>G	c.(934-936)Atg>Gtg	p.M312V	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	312					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGCAGTTCCATCTGCAAGGTC	0.612																																																	0													62.0	69.0	67.0					5																	179745817		2129	4239	6368	SO:0001583	missense	0			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.934A>G	5.37:g.179745817T>C	ENSP00000253778:p.Met312Val		Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.M312V	ENST00000253778.8	37	c.934	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420254	0.62622	.	.	ENSG00000131459	ENST00000253778;ENST00000518906	T	0.38887	1.11	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	M	0.75150	2.29	0.80722	D	1	B	0.26975	0.165	B	0.27608	0.081	T	0.39461	-0.9613	9	.	.	.	-29.7452	15.82	0.78633	0.0:0.0:0.0:1.0	.	312	O94808	GFPT2_HUMAN	V	312;214	ENSP00000253778:M312V	.	M	-	1	0	GFPT2	179678423	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.187000	0.72039	2.155000	0.67459	0.459000	0.35465	ATG	GFPT2	-	tigrfam_GlmS_trans	ENSG00000131459		0.612	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	-	0.00	58	0	T	NM_005110		179745817	-1	tier1	-	no_errors	ENST00000253778	ensembl	human	known	74_37	missense	52.50	19	21	SNP	1.000	C
GGNBP1	449520	genome.wustl.edu	37	6	33556739	33556739	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:33556739T>C	ENST00000374458.1	+	6	896	c.266T>C	c.(265-267)aTt>aCt	p.I89T	LINC00336_ENST00000477984.1_RNA			Q5YKI7	GGNB1_HUMAN	gametogenetin binding protein 1 (pseudogene)	89	Interaction with GGN. {ECO:0000250}.				cell differentiation (GO:0030154)|mitochondrial fission (GO:0000266)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)											CCTTCACCCATTTCTGTCGCC	0.597																																																	0																																										SO:0001583	missense	0					6p21	2012-04-19	2012-04-19		ENSG00000204188	ENSG00000204188			19427	pseudogene	pseudogene		609495	"""gametogenetin binding protein 1"""			15642376	Standard	NR_028361		Approved		uc021ywq.1	Q5YKI7		ENST00000374458.1:c.266T>C	6.37:g.33556739T>C	ENSP00000363582:p.Ile89Thr		Q5YKI8	Missense_Mutation	SNP	NULL	p.I89T	ENST00000374458.1	37	c.266		6	.	.	.	.	.	.	.	.	.	.	T	12.79	2.044528	0.36085	.	.	ENSG00000204188	ENST00000374458	.	.	.	4.23	-2.18	0.07037	.	.	.	.	.	T	0.17619	0.0423	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36578	-0.9742	5	0.66056	D	0.02	-16.6986	4.2622	0.10745	0.1557:0.2694:0.0:0.5749	.	.	.	.	T	89	.	ENSP00000363582:I89T	I	+	2	0	GGNBP1	33664717	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.744000	0.04839	-0.330000	0.08514	-0.450000	0.05554	ATT	GGNBP1	-	NULL	ENSG00000204188		0.597	GGNBP1-201	KNOWN	basic|appris_principal	protein_coding	GGNBP1	HGNC	protein_coding		-	0.00	63	0	T			33556739	+1	tier1	-	no_errors	ENST00000374458	ensembl	human	known	74_37	missense	36.36	35	20	SNP	0.000	C
GGNBP2	79893	genome.wustl.edu	37	17	34913100	34913100	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:34913100C>T	ENST00000304718.4	+	4	668	c.352C>T	c.(352-354)Ccc>Tcc	p.P118S		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	118					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AACAGTAGGGCCCAAGGGAGT	0.443																																																	0													137.0	123.0	128.0					17																	34913100		2203	4300	6503	SO:0001583	missense	0			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.352C>T	17.37:g.34913100C>T	ENSP00000307617:p.Pro118Ser		B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	NULL	p.P118S	ENST00000304718.4	37	c.352	CCDS11314.1	17	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650511	0.29336	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.13	5.13	0.70059	.	0.292151	0.38778	N	0.001570	T	0.28167	0.0695	N	0.04508	-0.205	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.11397	-1.0589	9	0.33141	T	0.24	-1.4058	9.1177	0.36769	0.0:0.7735:0.1483:0.0782	.	118;118	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	S	118	.	ENSP00000307617:P118S	P	+	1	0	GGNBP2	31987213	0.994000	0.37717	0.999000	0.59377	0.994000	0.84299	1.571000	0.36450	2.574000	0.86865	0.579000	0.79373	CCC	GGNBP2	-	NULL	ENSG00000005955		0.443	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGNBP2	HGNC	protein_coding	OTTHUMT00000256684.2	-	0.00	91	0	C	NM_024835		34913100	+1	tier1	-	no_errors	ENST00000304718	ensembl	human	known	74_37	missense	41.43	41	29	SNP	1.000	T
GGNBP2	79893	genome.wustl.edu	37	17	34934522	34934522	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:34934522C>T	ENST00000304718.4	+	7	1067	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	251					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGAAGGCTTGCGGTGCTGTCC	0.453																																																	0													197.0	181.0	187.0					17																	34934522		2203	4300	6503	SO:0001583	missense	0			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.751C>T	17.37:g.34934522C>T	ENSP00000307617:p.Arg251Trp		B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	NULL	p.R251W	ENST00000304718.4	37	c.751	CCDS11314.1	17	.	.	.	.	.	.	.	.	.	.	C	24.9	4.576798	0.86645	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.68	5.68	0.88126	.	0.053757	0.85682	D	0.000000	T	0.72977	0.3528	L	0.43152	1.355	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.996	P;P;P	0.62298	0.9;0.9;0.736	T	0.74639	-0.3598	9	0.87932	D	0	-6.7123	19.7758	0.96391	0.0:1.0:0.0:0.0	.	251;251;251	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	W	251	.	ENSP00000307617:R251W	R	+	1	2	GGNBP2	32008635	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.226000	0.58606	2.681000	0.91329	0.585000	0.79938	CGG	GGNBP2	-	NULL	ENSG00000005955		0.453	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGNBP2	HGNC	protein_coding	OTTHUMT00000256684.2	-	0.00	75	0	C	NM_024835		34934522	+1	tier1	-	no_errors	ENST00000304718	ensembl	human	known	74_37	missense	44.44	35	28	SNP	1.000	T
GGT7	2686	genome.wustl.edu	37	20	33437806	33437806	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:33437806G>A	ENST00000336431.5	-	14	1827	c.1783C>T	c.(1783-1785)Cgc>Tgc	p.R595C	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	595					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GGGTGTAGGCGGCCGCGGGCC	0.612																																																	0													33.0	38.0	36.0					20																	33437806		1937	4136	6073	SO:0001583	missense	0			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1783C>T	20.37:g.33437806G>A	ENSP00000338964:p.Arg595Cys		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.R595C	ENST00000336431.5	37	c.1783	CCDS13242.2	20	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272791	0.80580	.	.	ENSG00000131067	ENST00000336431	T	0.35421	1.31	5.87	5.87	0.94306	.	0.049142	0.85682	D	0.000000	T	0.66906	0.2837	H	0.95574	3.69	0.80722	D	1	D;D	0.63046	0.992;0.989	P;P	0.57620	0.786;0.824	T	0.76501	-0.2936	10	0.87932	D	0	-10.5377	14.9754	0.71267	0.0:0.0:0.8572:0.1427	.	595;595	A4FU32;Q9UJ14	.;GGT7_HUMAN	C	595	ENSP00000338964:R595C	ENSP00000338964:R595C	R	-	1	0	GGT7	32901467	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.543000	0.53633	2.941000	0.99782	0.655000	0.94253	CGC	GGT7	-	pfam_GGT_peptidase	ENSG00000131067		0.612	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	HGNC	protein_coding	OTTHUMT00000078816.2	-	0.00	88	0	G	NM_178026		33437806	-1	tier1	-	no_errors	ENST00000336431	ensembl	human	novel	74_37	missense	43.48	39	30	SNP	1.000	A
GIPC3	126326	genome.wustl.edu	37	19	3589527	3589527	+	Frame_Shift_Del	DEL	G	G	-	rs202075236	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:3589527delG	ENST00000322315.5	+	4	724	c.679delG	c.(679-681)gggfs	p.G228fs		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	228										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCGTTCTGGGGGGGCTGC	0.607																																																	0													35.0	41.0	39.0					19																	3589527		2203	4300	6503	SO:0001589	frameshift_variant	0			AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.679delG	19.37:g.3589527delG	ENSP00000319254:p.Gly228fs		O75227	Frame_Shift_Del	DEL	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.A229fs	ENST00000322315.5	37	c.679	CCDS32871.1	19																																																																																			GIPC3	-	pirsf_UCP038083_PDZ	ENSG00000179855		0.607	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC3	HGNC	protein_coding	OTTHUMT00000394577.1		0.00	80	0	G	NM_133261		3589527	+1	tier1		no_errors	ENST00000322315	ensembl	human	known	74_37	frame_shift_del	37.65	53	32	DEL	0.803	-
GIPC1	10755	genome.wustl.edu	37	19	14590322	14590322	+	Missense_Mutation	SNP	G	G	A	rs564587407		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:14590322G>A	ENST00000393033.4	-	7	939	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	GIPC1_ENST00000393028.1_Missense_Mutation_p.R127C|GIPC1_ENST00000345425.2_Missense_Mutation_p.R224C|GIPC1_ENST00000591349.1_Missense_Mutation_p.R127C|GIPC1_ENST00000586027.1_Missense_Mutation_p.R224C|GIPC1_ENST00000393029.3_Missense_Mutation_p.R127C	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	224					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CCCGCTGAACGCTGGCTGATC	0.652													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14333	0.0		0.0	False		,,,				2504	0.0				Pancreas(33;78 923 2910 41023 52850)												0													10.0	11.0	11.0					19																	14590322		2167	4257	6424	SO:0001583	missense	0			AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.670C>T	19.37:g.14590322G>A	ENSP00000376753:p.Arg224Cys		A8K4I3|A8MZG3|Q9BTC9	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.R224C	ENST00000393033.4	37	c.670	CCDS12310.1	19	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053466	0.36181	.	.	ENSG00000123159	ENST00000393033;ENST00000345425;ENST00000393029;ENST00000393028;ENST00000351277	D;D;D;D	0.87966	-1.77;-1.77;-2.32;-2.32	4.3	1.74	0.24563	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	D	0.92912	0.7745	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.63033	0.91	D	0.93293	0.6670	10	0.87932	D	0	-20.1706	11.6687	0.51389	0.0:0.0:0.6709:0.3291	.	224	O14908	GIPC1_HUMAN	C	224;224;127;127;224	ENSP00000376753:R224C;ENSP00000340698:R224C;ENSP00000376749:R127C;ENSP00000376748:R127C	ENSP00000340698:R224C	R	-	1	0	GIPC1	14451322	0.002000	0.14202	0.110000	0.21437	0.074000	0.17049	0.001000	0.13038	0.773000	0.33404	0.561000	0.74099	CGT	GIPC1	-	superfamily_PDZ,pirsf_UCP038083_PDZ	ENSG00000123159		0.652	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC1	HGNC	protein_coding	OTTHUMT00000460239.2	-	0.00	32	0	G			14590322	-1	tier1	-	no_errors	ENST00000345425	ensembl	human	known	74_37	missense	46.15	14	12	SNP	0.995	A
GJA3	2700	genome.wustl.edu	37	13	20716933	20716933	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:20716933G>A	ENST00000241125.3	-	2	671	c.495C>T	c.(493-495)gcC>gcT	p.A165A		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	165					cell-cell signaling (GO:0007267)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AGTACTGGCCGGCGATGAAGC	0.657																																																	0													44.0	42.0	43.0					13																	20716933		2203	4300	6503	SO:0001819	synonymous_variant	0			AF075290	CCDS9289.1	13q12.11	2008-02-05	2007-01-16		ENSG00000121743	ENSG00000121743		"""Ion channels / Gap junction proteins (connexins)"""	4277	protein-coding gene	gene with protein product	"""connexin 46"""	121015	"""gap junction protein, alpha 3, 46kD (connexin 46)"", ""gap junction protein, alpha 3, 46kDa (connexin 46)"""	CZP3		10205266, 7342922	Standard	NM_021954		Approved	CX46	uc001umx.1	Q9Y6H8	OTTHUMG00000016510	ENST00000241125.3:c.495C>T	13.37:g.20716933G>A			Q0VAB7|Q9H537	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin46	p.A165	ENST00000241125.3	37	c.495	CCDS9289.1	13																																																																																			GJA3	-	pfam_Connexin_CCC,prints_Connexin	ENSG00000121743		0.657	GJA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA3	HGNC	protein_coding	OTTHUMT00000044059.3	-	0.00	68	0	G	NM_021954		20716933	-1	tier1	-	no_errors	ENST00000241125	ensembl	human	known	74_37	silent	50.00	49	49	SNP	0.996	A
GLI3	2737	genome.wustl.edu	37	7	42005573	42005573	+	Frame_Shift_Del	DEL	G	G	-	rs376956433		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:42005573delG	ENST00000395925.3	-	15	3182	c.3098delC	c.(3097-3099)ccgfs	p.P1033fs	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1033					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGCCATCGCCGGGGGGTTGCA	0.701									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0													18.0	21.0	20.0					7																	42005573		2198	4299	6497	SO:0001589	frameshift_variant	0	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3098delC	7.37:g.42005573delG	ENSP00000379258:p.Pro1033fs		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1033fs	ENST00000395925.3	37	c.3098	CCDS5465.1	7																																																																																			GLI3	-	NULL	ENSG00000106571		0.701	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI3	HGNC	protein_coding	OTTHUMT00000250806.3		0.00	20	0	G	NM_000168		42005573	-1			no_errors	ENST00000395925	ensembl	human	known	74_37	frame_shift_del	37.50	5	3	DEL	0.131	0
GLI4	2738	genome.wustl.edu	37	8	144358905	144358905	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:144358905C>T	ENST00000523522.1	+	3	1101	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	GLI4_ENST00000523812.1_3'UTR|GLI4_ENST00000340042.1_Silent_p.G354G			P10075	GLI4_HUMAN	GLI family zinc finger 4	354					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TCGCGTGTGGCGCCTGCGGCA	0.711																																																	0													10.0	11.0	11.0					8																	144358905		2192	4279	6471	SO:0001819	synonymous_variant	0				CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"""Zinc fingers, C2H2-type"""	4320	protein-coding gene	gene with protein product		165280	"""GLI-Kruppel family member GLI4"", ""glioma-associated oncogene family zinc finger 4"""			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.1062C>T	8.37:g.144358905C>T			Q96CK9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G354	ENST00000523522.1	37	c.1062	CCDS6398.1	8																																																																																			GLI4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000250571		0.711	GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI4	HGNC	protein_coding	OTTHUMT00000381128.2	-	0.00	33	0	C			144358905	+1	tier1	-	no_errors	ENST00000340042	ensembl	human	known	74_37	silent	37.21	27	16	SNP	0.000	T
GLIS1	148979	genome.wustl.edu	37	1	53990500	53990500	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:53990500G>A	ENST00000312233.2	-	5	1584	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						ACGTGCTTGCGGAGGGAGCTG	0.632																																																	0													198.0	160.0	173.0					1																	53990500		2203	4300	6503	SO:0001583	missense	0			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1018C>T	1.37:g.53990500G>A	ENSP00000309653:p.Arg340Cys			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R340C	ENST00000312233.2	37	c.1018	CCDS582.1	1	.	.	.	.	.	.	.	.	.	.	g	18.63	3.666324	0.67814	.	.	ENSG00000174332	ENST00000312233	T	0.36340	1.26	4.2	3.28	0.37604	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.139499	0.32488	N	0.006033	T	0.57036	0.2026	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60752	-0.7201	10	0.72032	D	0.01	.	12.4182	0.55506	0.0832:0.0:0.9168:0.0	.	340	Q8NBF1	GLIS1_HUMAN	C	340	ENSP00000309653:R340C	ENSP00000309653:R340C	R	-	1	0	GLIS1	53763088	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	6.769000	0.74985	0.917000	0.36895	-0.642000	0.03964	CGC	GLIS1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000174332		0.632	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS1	HGNC	protein_coding	OTTHUMT00000022109.1	-	0.00	62	0	G	NM_147193		53990500	-1	tier1	-	no_errors	ENST00000312233	ensembl	human	known	74_37	missense	32.08	36	17	SNP	1.000	A
GLIS3	169792	genome.wustl.edu	37	9	4286007	4286007	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:4286007delT	ENST00000381971.3	-	2	982					NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|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)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		ATCGTTTCCATTTTTAAAAGG	0.413																																																	0													54.0	55.0	54.0					9																	4286007		1828	4086	5914	SO:0001627	intron_variant	0			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000381971.3:c.388+30A>-	9.37:g.4286007delT			B1AL19|Q1PHK5	RNA	DEL	-	NULL	ENST00000381971.3	37	NULL	CCDS43784.1	9																																																																																			GLIS3	-	-	ENSG00000107249		0.413	GLIS3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS3	HGNC	protein_coding	OTTHUMT00000354776.1		0.00	45	0	T	NM_152629		4286007	-1	tier1		no_errors	ENST00000471664	ensembl	human	known	74_37	rna	31.03	20	9	DEL	0.000	-
GLS2	27165	genome.wustl.edu	37	12	56881845	56881845	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:56881845G>T	ENST00000311966.4	-	1	336	c.58C>A	c.(58-60)Cga>Aga	p.R20R	GLS2_ENST00000539272.1_Silent_p.R20R	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	20					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)	p.R20G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	CAGCCTCCTCGCCCGCAGTGA	0.726																																																	1	Substitution - Missense(1)	lung(1)											9.0	11.0	10.0					12																	56881845		2185	4266	6451	SO:0001819	synonymous_variant	0				CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.58C>A	12.37:g.56881845G>T			B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Silent	SNP	pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase	p.R20	ENST00000311966.4	37	c.58	CCDS8921.1	12																																																																																			GLS2	-	NULL	ENSG00000135423		0.726	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS2	HGNC	protein_coding	OTTHUMT00000277113.1		0.00	24	0	G	NM_013267		56881845	-1			no_errors	ENST00000311966	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.898	T
GMEB1	10691	genome.wustl.edu	37	1	29041386	29041387	+	IGR	DEL	AA	AA	-	rs528044464	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:29041386_29041387delAA	ENST00000294409.2	+	0	1912				GMEB1_ENST00000361872.4_3'UTR|GMEB1_ENST00000373816.1_3'UTR|GMEB1_ENST00000480454.1_3'UTR	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1						transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCTTTTTTAAAAAAAAAAAA	0.347																																																	0																																										SO:0001628	intergenic_variant	0			AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647		1.37:g.29041396_29041397delAA			B1AT48|Q9NWH1|Q9UKD0	RNA	DEL	-	NULL	ENST00000294409.2	37	NULL	CCDS327.1	1																																																																																			GMEB1	-	-	ENSG00000162419		0.347	GMEB1-003	KNOWN	basic|CCDS	protein_coding	GMEB1	HGNC	protein_coding	OTTHUMT00000010333.1		0.00	17	0	AA	NM_006582		29041387	+1	tier1		no_errors	ENST00000480454	ensembl	human	known	74_37	rna	54.55	5	6	DEL	0.252:0.049	-
GMIP	51291	genome.wustl.edu	37	19	19745476	19745476	+	Missense_Mutation	SNP	C	C	T	rs150986647		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:19745476C>T	ENST00000203556.4	-	18	2061	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T	GMIP_ENST00000587238.1_Missense_Mutation_p.A616T|GMIP_ENST00000445806.2_Missense_Mutation_p.A613T|GMIP_ENST00000586269.1_Intron	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	642	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GAGATGAAGGCGTCGTAGAGG	0.657																																																	0													138.0	139.0	139.0					19																	19745476		2203	4300	6503	SO:0001583	missense	0			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.1924G>A	19.37:g.19745476C>T	ENSP00000203556:p.Ala642Thr		A0AVN9|B7ZLZ0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.A642T	ENST00000203556.4	37	c.1924	CCDS12408.1	19	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592230	0.46214	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.18810	2.19;2.19	4.77	4.77	0.60923	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.41294	D	0.000908	T	0.23014	0.0556	L	0.46819	1.47	0.29644	N	0.844522	P;B;P	0.51240	0.943;0.139;0.943	P;B;P	0.46452	0.517;0.075;0.517	T	0.07271	-1.0781	10	0.34782	T	0.22	-18.5669	11.229	0.48901	0.0:0.814:0.186:0.0	.	613;616;642	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	T	642;613	ENSP00000203556:A642T;ENSP00000397075:A613T	ENSP00000203556:A642T	A	-	1	0	GMIP	19606476	0.956000	0.32656	0.964000	0.40570	0.958000	0.62258	2.267000	0.43329	2.205000	0.71048	0.561000	0.74099	GCC	GMIP	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000089639		0.657	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	-	0.00	77	0	C	NM_016573		19745476	-1	tier1	-	no_errors	ENST00000203556	ensembl	human	known	74_37	missense	36.36	35	20	SNP	0.756	T
GMIP	51291	genome.wustl.edu	37	19	19748865	19748865	+	Splice_Site	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:19748865G>A	ENST00000203556.4	-	10	928	c.791C>T	c.(790-792)gCg>gTg	p.A264V	GMIP_ENST00000587238.1_Splice_Site_p.A264V|GMIP_ENST00000445806.2_Splice_Site_p.A264V|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	264					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGCCTCCTGCGCCTGGGGAAA	0.741																																																	0													11.0	10.0	10.0					19																	19748865		2185	4265	6450	SO:0001630	splice_region_variant	0			AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.790-1C>T	19.37:g.19748865G>A			A0AVN9|B7ZLZ0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.A264V	ENST00000203556.4	37	c.791	CCDS12408.1	19	.	.	.	.	.	.	.	.	.	.	G	4.587	0.109142	0.08780	.	.	ENSG00000089639	ENST00000203556;ENST00000445806	T;T	0.42900	0.96;0.96	4.27	-4.94	0.03057	.	0.363851	0.19861	N	0.104438	T	0.21227	0.0511	L	0.33189	0.99	0.28941	N	0.890971	B;B;B	0.16603	0.018;0.007;0.007	B;B;B	0.06405	0.002;0.002;0.002	T	0.44128	-0.9348	10	0.05436	T	0.98	-2.7089	10.6349	0.45558	0.6046:0.0:0.3954:0.0	.	264;264;264	E7ERB7;B7ZLZ0;Q9P107	.;.;GMIP_HUMAN	V	264	ENSP00000203556:A264V;ENSP00000397075:A264V	ENSP00000203556:A264V	A	-	2	0	GMIP	19609865	0.005000	0.15991	0.038000	0.18304	0.041000	0.13682	0.038000	0.13862	-1.058000	0.03197	-0.657000	0.03884	GCG	GMIP	-	NULL	ENSG00000089639		0.741	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMIP	HGNC	protein_coding	OTTHUMT00000460551.1	-	0.00	39	0	G	NM_016573	Missense_Mutation	19748865	-1	tier1	-	no_errors	ENST00000203556	ensembl	human	known	74_37	missense	38.10	13	8	SNP	0.009	A
GNA12	2768	genome.wustl.edu	37	7	2768249	2768249	+	3'UTR	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:2768249C>A	ENST00000275364.3	-	0	3874				GNA12_ENST00000396960.3_3'UTR|GNA12_ENST00000407904.3_3'UTR|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000407653.1_3'UTR|GNA12_ENST00000491117.1_5'UTR	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic digit morphogenesis (GO:0042733)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|platelet activation (GO:0030168)|regulation of cell shape (GO:0008360)|regulation of fibroblast migration (GO:0010762)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)|response to drug (GO:0042493)|Rho protein signal transduction (GO:0007266)	brush border membrane (GO:0031526)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		CAACTACCTCCTGCTTTTCCA	0.313																																																	0																																										SO:0001624	3_prime_UTR_variant	0			L01694	CCDS5335.1, CCDS64584.1, CCDS64583.1	7p22.3	2006-07-08			ENSG00000146535	ENSG00000146535			4380	protein-coding gene	gene with protein product		604394				8423800, 16247467	Standard	NM_007353		Approved	gep	uc003smu.3	Q03113	OTTHUMG00000023064	ENST00000275364.3:c.*2566G>T	7.37:g.2768249C>A			A4D204|B3KXS2|B7Z3F7|Q2T9L1|Q5PPR5|Q86UM8|Q8TD71|Q9UDU9	RNA	SNP	-	NULL	ENST00000275364.3	37	NULL	CCDS5335.1	7																																																																																			GNA12	-	-	ENSG00000146535		0.313	GNA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA12	HGNC	protein_coding	OTTHUMT00000241608.1	-	0.00	16	0	C	NM_007353		2768249	-1	tier1	-	no_errors	ENST00000491117	ensembl	human	known	74_37	rna	51.61	15	16	SNP	0.998	A
GNAI2	2771	genome.wustl.edu	37	3	50294248	50294248	+	Silent	SNP	C	C	T	rs587657823		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:50294248C>T	ENST00000313601.6	+	6	1071	c.687C>T	c.(685-687)agC>agT	p.S229S	GNAI2_ENST00000440628.1_Silent_p.S177S|GNAI2_ENST00000536647.1_Silent_p.S148S|GNAI2_ENST00000422163.1_Silent_p.S213S|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_Silent_p.S213S|GNAI2_ENST00000451956.1_Silent_p.S192S	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	229					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TAGCCTTGAGCGCCTATGACT	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		20762	0.001		0.0	False		,,,				2504	0.0																0													138.0	129.0	132.0					3																	50294248		2203	4300	6503	SO:0001819	synonymous_variant	0			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.687C>T	3.37:g.50294248C>T			B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha	p.S229	ENST00000313601.6	37	c.687	CCDS2813.1	3																																																																																			GNAI2	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su	ENSG00000114353		0.582	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI2	HGNC	protein_coding	OTTHUMT00000346688.1	-	0.00	145	0	C	NM_002070		50294248	+1	tier1	-	no_errors	ENST00000313601	ensembl	human	known	74_37	silent	42.16	59	43	SNP	1.000	T
GNB1	2782	genome.wustl.edu	37	1	1720538	1720538	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:1720538G>A	ENST00000378609.4	-	10	1201	c.870C>T	c.(868-870)gaC>gaT	p.D290D		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	290					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		AGTTGAAGTCGTCGTACCCAG	0.552											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													95.0	89.0	91.0					1																	1720538		2203	4300	6503	SO:0001819	synonymous_variant	0			BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.870C>T	1.37:g.1720538G>A		598	B1AJZ7|P04697|P04901|Q1RMY8	Silent	SNP	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D290	ENST00000378609.4	37	c.870	CCDS34.1	1	.	.	.	.	.	.	.	.	.	.	G	7.481	0.648696	0.14516	.	.	ENSG00000078369	ENST00000424622	.	.	.	5.52	-4.97	0.03029	.	.	.	.	.	T	0.63260	0.2496	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64584	-0.6373	4	.	.	.	-1.042	14.8194	0.70059	0.7447:0.0:0.2553:0.0	.	.	.	.	M	148	.	.	T	-	2	0	GNB1	1710398	0.023000	0.18921	0.935000	0.37517	0.971000	0.66376	-0.795000	0.04580	-0.784000	0.04528	-0.126000	0.14955	ACG	GNB1	-	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000078369		0.552	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB1	HGNC	protein_coding	OTTHUMT00000002762.3	-	0.00	40	0	G	NM_002074		1720538	-1	tier1	-	no_errors	ENST00000378609	ensembl	human	known	74_37	silent	31.25	22	10	SNP	0.857	A
GNB1L	54584	genome.wustl.edu	37	22	19808206	19808206	+	Missense_Mutation	SNP	G	G	A	rs138225912		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:19808206G>A	ENST00000329517.6	-	4	405	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000405009.1_Missense_Mutation_p.R57W|GNB1L_ENST00000403325.1_Missense_Mutation_p.R57W	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	57					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					ACCGCTCTCCGCGTCTGCAGG	0.647																																																	0								G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	40.0	44.0	43.0		169	4.5	1.0	22	dbSNP_134	43	0,8600		0,0,4300	no	missense	GNB1L	NM_053004.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	57/328	19808206	1,13005	2203	4300	6503	SO:0001583	missense	0			AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.169C>T	22.37:g.19808206G>A	ENSP00000331313:p.Arg57Trp		Q9H2S2|Q9H4M4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R57W	ENST00000329517.6	37	c.169	CCDS13768.1	22	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072898	0.55646	2.27E-4	0.0	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009	T;T;T	0.18810	2.19;2.19;5.01	5.57	4.53	0.55603	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.066533	0.56097	U	0.000022	T	0.44117	0.1278	M	0.75264	2.295	0.45366	D	0.998351	D	0.89917	1.0	D	0.66847	0.947	T	0.44390	-0.9331	10	0.72032	D	0.01	-22.284	12.4576	0.55712	0.0:0.0:0.8263:0.1737	.	57	Q9BYB4	GNB1L_HUMAN	W	57	ENSP00000331313:R57W;ENSP00000385154:R57W;ENSP00000384626:R57W	ENSP00000331313:R57W	R	-	1	2	GNB1L	18188206	0.999000	0.42202	0.956000	0.39512	0.155000	0.21991	3.169000	0.50809	1.286000	0.44565	0.557000	0.71058	CGG	GNB1L	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000185838		0.647	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB1L	HGNC	protein_coding	OTTHUMT00000075202.1	-	0.00	69	0	G			19808206	-1	tier1	rs138225912	no_errors	ENST00000329517	ensembl	human	known	74_37	missense	54.00	23	27	SNP	0.978	A
GNE	10020	genome.wustl.edu	37	9	36249366	36249366	+	5'UTR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:36249366C>T	ENST00000539815.1	-	0	27				GNE_ENST00000377902.5_5'UTR|GNE_ENST00000396594.3_Missense_Mutation_p.R27Q|GNE_ENST00000543356.2_Intron|GNE_ENST00000447283.2_5'UTR|GNE_ENST00000539208.1_Intron			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase						carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TTGCTTGTTTCGTTTTGAGAG	0.343																																					GBM(184;106 2118 20004 35750 50727)												0													126.0	108.0	114.0					9																	36249366		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.-14G>A	9.37:g.36249366C>T			A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.R27Q	ENST00000539815.1	37	c.80	CCDS6602.1	9	.	.	.	.	.	.	.	.	.	.	C	9.525	1.109266	0.20714	.	.	ENSG00000159921	ENST00000396594	D	0.99598	-6.26	4.83	-5.4	0.02656	.	.	.	.	.	D	0.97807	0.9280	.	.	.	0.09310	N	0.999993	B	0.06786	0.001	B	0.01281	0.0	D	0.91736	0.5400	8	0.30078	T	0.28	0.3459	14.7245	0.69332	0.0:0.2017:0.0:0.7983	.	27	Q9Y223-2	.	Q	27	ENSP00000379839:R27Q	ENSP00000379839:R27Q	R	-	2	0	GNE	36239366	0.509000	0.26163	0.000000	0.03702	0.733000	0.41908	-0.148000	0.10219	-1.261000	0.02462	0.561000	0.74099	CGA	GNE	-	NULL	ENSG00000159921		0.343	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	HGNC	protein_coding	OTTHUMT00000052412.4		0.00	14	0	C	NM_005476		36249366	-1			no_errors	ENST00000396594	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.000	T
GOLGA3	2802	genome.wustl.edu	37	12	133349866	133349866	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:133349866C>T	ENST00000450791.2	-	23	4505	c.4322G>A	c.(4321-4323)aGc>aAc	p.S1441N	GOLGA3_ENST00000204726.3_Missense_Mutation_p.S1441N			Q08378	GOGA3_HUMAN	golgin A3	1441					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCGCTGCAGGCTGTCCATCTC	0.657																																																	0													23.0	20.0	21.0					12																	133349866		2199	4289	6488	SO:0001583	missense	0			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4322G>A	12.37:g.133349866C>T	ENSP00000410378:p.Ser1441Asn		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.S1441N	ENST00000450791.2	37	c.4322	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.633512	0.96682	.	.	ENSG00000090615	ENST00000204726;ENST00000450791	T;T	0.27402	1.67;1.67	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.43032	-0.9416	10	0.66056	D	0.02	.	19.6809	0.95962	0.0:1.0:0.0:0.0	.	1441	Q08378	GOGA3_HUMAN	N	1441	ENSP00000204726:S1441N;ENSP00000410378:S1441N	ENSP00000204726:S1441N	S	-	2	0	GOLGA3	131859939	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.251000	0.78297	2.753000	0.94483	0.650000	0.86243	AGC	GOLGA3	-	NULL	ENSG00000090615		0.657	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	-	0.00	32	0	C	NM_005895		133349866	-1	tier1	-	no_errors	ENST00000204726	ensembl	human	known	74_37	missense	55.56	12	15	SNP	1.000	T
GOLGA6A	342096	genome.wustl.edu	37	15	74363576	74363576	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:74363576C>A	ENST00000290438.3	-	17	1883	c.1843G>T	c.(1843-1845)Ggc>Tgc	p.G615C	RN7SL429P_ENST00000479090.2_RNA	NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	615						Golgi apparatus (GO:0005794)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						TCATGGTTGCCCACAAGGGGC	0.657																																																	0													1.0	1.0	1.0					15																	74363576		52	103	155	SO:0001583	missense	0			AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"""golgi autoantigen, golgin subfamily a, member 6"", ""golgi autoantigen, golgin subfamily a, 6"", ""golgi autoantigen, golgin subfamily a, 6A"""	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.1843G>T	15.37:g.74363576C>A	ENSP00000290438:p.Gly615Cys		A8K959|Q9NYA7	Missense_Mutation	SNP	NULL	p.G615C	ENST00000290438.3	37	c.1843	CCDS32290.1	15	.	.	.	.	.	.	.	.	.	.	c	11.10	1.539022	0.27475	.	.	ENSG00000159289	ENST00000290438	T	0.24538	1.85	1.52	-3.04	0.05412	.	.	.	.	.	T	0.43634	0.1256	M	0.84082	2.675	0.33417	D	0.579361	D	0.89917	1.0	D	0.81914	0.995	T	0.50988	-0.8762	9	0.87932	D	0	.	2.8143	0.05451	0.3276:0.3567:0.0:0.3157	.	615	Q9NYA3	GOG6A_HUMAN	C	615	ENSP00000290438:G615C	ENSP00000290438:G615C	G	-	1	0	GOLGA6A	72150629	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.690000	0.05138	-1.498000	0.01824	-1.906000	0.00525	GGC	GOLGA6A	-	NULL	ENSG00000159289		0.657	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6A	HGNC	protein_coding	OTTHUMT00000421835.1	-	0.00	29	0	C	XM_292357		74363576	-1	tier1	-	no_errors	ENST00000290438	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.563	A
GOLGA6C	653641	genome.wustl.edu	37	15	75558448	75558448	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:75558448G>A	ENST00000300576.5	+	11	850	c.850G>A	c.(850-852)Gag>Aag	p.E284K	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	284						Golgi apparatus (GO:0005794)				ovary(1)	1						TTTCTCAGCTGAGCCCCCATC	0.537																																																	0													1.0	1.0	1.0					15																	75558448		223	598	821	SO:0001583	missense	0				CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6C"""				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.850G>A	15.37:g.75558448G>A	ENSP00000300576:p.Glu284Lys			Missense_Mutation	SNP	NULL	p.E284K	ENST00000300576.5	37	c.850	CCDS58388.1	15	.	.	.	.	.	.	.	.	.	.	G	8.149	0.786973	0.16189	.	.	ENSG00000167195	ENST00000300576	T	0.22743	1.94	0.167	0.167	0.15006	.	.	.	.	.	T	0.17365	0.0417	L	0.49256	1.55	0.25099	N	0.990795	B	0.02656	0.0	B	0.04013	0.001	T	0.24154	-1.0168	9	0.42905	T	0.14	.	6.1731	0.20429	3.0E-4:0.0:0.9997:0.0	.	284	A6NDK9	GOG6C_HUMAN	K	284	ENSP00000300576:E284K	ENSP00000300576:E284K	E	+	1	0	GOLGA6C	73345501	0.001000	0.12720	0.050000	0.19076	0.051000	0.14879	0.398000	0.20899	0.276000	0.22118	0.281000	0.19383	GAG	GOLGA6C	-	NULL	ENSG00000167195		0.537	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6C	HGNC	protein_coding	OTTHUMT00000419797.1	-	0.00	41	0	G	NM_001164404		75558448	+1	tier1	-	no_errors	ENST00000300576	ensembl	human	known	74_37	missense	17.35	81	17	SNP	0.999	A
GOLGA6L1	283767	genome.wustl.edu	37	15	22742753	22742753	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:22742753C>T	ENST00000560659.2	+	8	988	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W	GOLGA6L1_ENST00000316397.3_Missense_Mutation_p.R380W			Q8N7Z2	GG6L1_HUMAN	golgin A6 family-like 1	374										NS(1)|breast(2)|endometrium(5)|large_intestine(1)|lung(1)|skin(1)	11						ggagaagatacgggagctgga	0.562																																																	0													1.0	1.0	1.0					15																	22742753		690	914	1604	SO:0001583	missense	0			AK097517	CCDS73699.1	15q11.2	2012-10-05	2010-02-12		ENSG00000197414	ENSG00000277865			37444	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 1"""				Standard	NM_001001413		Approved		uc010tzx.1	Q8N7Z2	OTTHUMG00000171883	ENST00000560659.2:c.988C>T	15.37:g.22742753C>T	ENSP00000452626:p.Arg330Trp			Missense_Mutation	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.R380W	ENST00000560659.2	37	c.1138		15	.	.	.	.	.	.	.	.	.	.	.	3.373	-0.127943	0.06753	.	.	ENSG00000197414	ENST00000316397;ENST00000355145	T	0.11063	2.81	.	.	.	.	.	.	.	.	T	0.12860	0.0312	L	0.52573	1.65	0.09310	N	1	.	.	.	.	.	.	T	0.27673	-1.0067	5	0.42905	T	0.14	.	.	.	.	.	.	.	.	W	380	ENSP00000320207:R380W	ENSP00000320207:R380W	R	+	1	2	GOLGA6L1	20294117	0.130000	0.22417	0.064000	0.19789	0.065000	0.16274	-1.303000	0.02743	0.149000	0.19098	0.152000	0.16155	CGG	GOLGA6L1	-	prints_Tropomyosin	ENSG00000197414		0.562	GOLGA6L1-002	KNOWN	basic|appris_candidate	protein_coding	GOLGA6L1	HGNC	protein_coding	OTTHUMT00000415616.2	-	0.00	532	0	C	NM_001001413		22742753	+1	tier1	-	no_errors	ENST00000316397	ensembl	human	known	74_37	missense	20.56	371	96	SNP	0.069	T
GOLGA6C	653641	genome.wustl.edu	37	15	75562260	75562260	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:75562260C>T	ENST00000300576.5	+	17	1888	c.1888C>T	c.(1888-1890)Cct>Tct	p.P630S	RN7SL489P_ENST00000486185.2_RNA	NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	630						Golgi apparatus (GO:0005794)				ovary(1)	1						TGCCCAGAACCCTGCTGATGA	0.642																																																	0													1.0	1.0	1.0					15																	75562260		169	537	706	SO:0001583	missense	0				CCDS58388.1	15q24.2	2014-02-12	2010-02-12		ENSG00000167195	ENSG00000167195			32206	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6C"""				Standard	NM_001164404		Approved		uc002azs.2	A6NDK9	OTTHUMG00000172671	ENST00000300576.5:c.1888C>T	15.37:g.75562260C>T	ENSP00000300576:p.Pro630Ser			Missense_Mutation	SNP	NULL	p.P630S	ENST00000300576.5	37	c.1888	CCDS58388.1	15	.	.	.	.	.	.	.	.	.	.	-	0.190	-1.054031	0.01965	.	.	ENSG00000167195	ENST00000300576	T	0.23950	1.88	.	.	.	.	.	.	.	.	T	0.20780	0.0500	L	0.58354	1.805	0.19775	N	0.99996	B	0.30634	0.288	B	0.28709	0.093	T	0.21930	-1.0231	8	0.23891	T	0.37	.	6.1333	0.20217	0.0:0.9996:0.0:4.0E-4	.	630	A6NDK9	GOG6C_HUMAN	S	630	ENSP00000300576:P630S	ENSP00000300576:P630S	P	+	1	0	GOLGA6C	73349313	0.795000	0.28851	0.172000	0.22920	0.176000	0.22953	0.512000	0.22755	0.259000	0.21709	0.264000	0.19307	CCT	GOLGA6C	-	NULL	ENSG00000167195		0.642	GOLGA6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6C	HGNC	protein_coding	OTTHUMT00000419797.1	-	0.00	27	0	C	NM_001164404		75562260	+1	tier1	-	no_errors	ENST00000300576	ensembl	human	known	74_37	missense	33.33	11	6	SNP	0.994	T
GOLGA8B	440270	genome.wustl.edu	37	15	34820022	34820022	+	Silent	SNP	C	C	T	rs541863143	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:34820022C>T	ENST00000342314.5	-	16	1720	c.1623G>A	c.(1621-1623)gcG>gcA	p.A541A	GOLGA8B_ENST00000267731.7_Silent_p.A541A|MIR1233-2_ENST00000408138.1_RNA|GOLGA8B_ENST00000438958.2_Silent_p.A571A|GOLGA8A_ENST00000543376.1_Intron	NM_001023567.4	NP_001018861.3	A8MQT2	GOG8B_HUMAN	golgin A8 family, member B	541	Golgi-targeting domain.					Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)	1		all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TGGTGAGGCTCGCCTCACAAA	0.627													c|||	2	0.000399361	0.0	0.0	5008	,	,		11902	0.0		0.0	False		,,,				2504	0.002																0													18.0	28.0	24.0					15																	34820022		2066	4233	6299	SO:0001819	synonymous_variant	0			AF164622	CCDS45211.1	15q14	2011-10-25	2010-02-12		ENSG00000215252	ENSG00000215252			31973	protein-coding gene	gene with protein product		609619	"""golgi autoantigen, golgin subfamily a, 8B"""				Standard	NM_001023567		Approved		uc001ziq.3	A8MQT2	OTTHUMG00000129549	ENST00000342314.5:c.1623G>A	15.37:g.34820022C>T			A6NLZ2|O94937|Q2M3S9|Q9NZG8|Q9NZW0|Q9NZW3	Silent	SNP	NULL	p.A571	ENST00000342314.5	37	c.1713	CCDS45211.1	15																																																																																			GOLGA8B	-	NULL	ENSG00000215252		0.627	GOLGA8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA8B	HGNC	protein_coding	OTTHUMT00000251739.2	-	0.00	205	0	C	NM_001023567		34820022	-1	tier1	-	no_errors	ENST00000438958	ensembl	human	known	74_37	silent	21.08	131	35	SNP	1.000	T
GOLGA6L3	100133220	genome.wustl.edu	37	15	83014112	83014112	+	Silent	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:83014112A>T	ENST00000557886.1	-	6	570	c.471T>A	c.(469-471)tcT>tcA	p.S157S															p.S157S(6)		endometrium(6)|kidney(5)|prostate(1)	12						GCTCTACCTTAGATGGCCCTG	0.498																																																	6	Substitution - coding silent(6)	endometrium(6)																																								SO:0001819	synonymous_variant	0																														ENST00000557886.1:c.471T>A	15.37:g.83014112A>T				Silent	SNP	NULL	p.S157	ENST00000557886.1	37	c.471		15																																																																																			RP13-996F3.4	-	NULL	ENSG00000259243		0.498	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	GOLGA6L3	Clone_based_vega_gene	protein_coding	OTTHUMT00000419277.1	-	0.00	55	0	A			83014112	-1	tier1	-	no_errors	ENST00000557886	ensembl	human	putative	74_37	silent	15.79	63	12	SNP	0.343	T
GOLIM4	27333	genome.wustl.edu	37	3	167747677	167747677	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:167747677G>T	ENST00000470487.1	-	10	2013	c.1324C>A	c.(1324-1326)Cac>Aac	p.H442N	GOLIM4_ENST00000309027.4_Missense_Mutation_p.H414N	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	442	Gln-rich.|Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						cgtagtaagtgcccctgcagc	0.637																																																	0													50.0	47.0	48.0					3																	167747677		2203	4300	6503	SO:0001583	missense	0			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1324C>A	3.37:g.167747677G>T	ENSP00000417354:p.His442Asn			Missense_Mutation	SNP	NULL	p.H442N	ENST00000470487.1	37	c.1324	CCDS3204.1	3	.	.	.	.	.	.	.	.	.	.	G	9.132	1.011574	0.19277	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.38	3.58	0.41010	.	0.232052	0.45361	D	0.000368	T	0.44932	0.1317	M	0.66939	2.045	0.09310	N	1	B;B	0.33266	0.404;0.404	B;B	0.32980	0.156;0.156	T	0.37820	-0.9689	9	0.36615	T	0.2	-7.7427	11.6785	0.51444	0.1466:0.0:0.8534:0.0	.	414;442	F8W785;O00461	.;GOLI4_HUMAN	N	442;414	.	ENSP00000309893:H414N	H	-	1	0	GOLIM4	169230371	0.993000	0.37304	0.012000	0.15200	0.124000	0.20399	6.117000	0.71577	1.295000	0.44724	0.555000	0.69702	CAC	GOLIM4	-	NULL	ENSG00000173905		0.637	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLIM4	HGNC	protein_coding	OTTHUMT00000351278.2		0.00	64	0	G			167747677	-1			no_errors	ENST00000470487	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.012	T
GON4L	54856	genome.wustl.edu	37	1	155823541	155823541	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:155823541C>T	ENST00000368331.1	-	2	79	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	GON4L_ENST00000437809.1_Missense_Mutation_p.V11M|GON4L_ENST00000271883.5_Missense_Mutation_p.V11M|GON4L_ENST00000361040.5_Missense_Mutation_p.V11M|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	11					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GACTCTGTCACTGTAGTTCTT	0.378																																																	0													94.0	87.0	89.0					1																	155823541		2203	4300	6503	SO:0001583	missense	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.31G>A	1.37:g.155823541C>T	ENSP00000357315:p.Val11Met		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.V11M	ENST00000368331.1	37	c.31		1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.632699	0.29068	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.15834	2.58;2.58;2.58;2.39	4.38	-0.305	0.12784	.	0.838313	0.10008	N	0.727560	T	0.04363	0.0120	L	0.32530	0.975	0.09310	N	1	P;B;B	0.35628	0.513;0.255;0.372	B;B;B	0.37422	0.249;0.127;0.249	T	0.38887	-0.9640	10	0.72032	D	0.01	.	3.2484	0.06806	0.2893:0.4623:0.1549:0.0934	.	11;11;11	Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	M	11	ENSP00000396117:V11M;ENSP00000357315:V11M;ENSP00000271883:V11M;ENSP00000354322:V11M	ENSP00000271883:V11M	V	-	1	0	GON4L	154090165	0.000000	0.05858	0.175000	0.22980	0.786000	0.44442	-0.389000	0.07342	0.099000	0.17552	0.561000	0.74099	GTG	GON4L	-	NULL	ENSG00000116580		0.378	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		-	0.00	92	0	C	NM_032292		155823541	-1	tier1	-	no_errors	ENST00000368331	ensembl	human	known	74_37	missense	28.57	85	34	SNP	0.001	T
GOT1L1	137362	genome.wustl.edu	37	8	37791834	37791834	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:37791834delT	ENST00000307599.4	-	9	1342	c.1243delA	c.(1243-1245)acafs	p.T415fs		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	415					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CCAATCAGTGTTTTTTTTTCC	0.373																																																	0										5,0,3547		2,0,1,0,0,1773	129.0	126.0	127.0			0.1	0.0	8		127	3,5,7804		0,0,3,1,3,3899	no	codingComplex	GOT1L1	NM_152413.2		2,0,4,1,3,5672	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1024,0.1408,0.1144			37791834	8,5,11351	1845	4083	5928	SO:0001589	frameshift_variant	0			BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.1243delA	8.37:g.37791834delT	ENSP00000303077:p.Thr415fs		A8MWL4	Frame_Shift_Del	DEL	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans	p.T415fs	ENST00000307599.4	37	c.1243	CCDS47839.1	8																																																																																			GOT1L1	-	NULL	ENSG00000169154		0.373	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOT1L1	HGNC	protein_coding	OTTHUMT00000376823.1		0.00	79	0	T	NM_152413		37791834	-1	tier1		no_errors	ENST00000307599	ensembl	human	known	74_37	frame_shift_del	21.62	87	24	DEL	0.000	-
GPALPP1	55425	genome.wustl.edu	37	13	45602078	45602078	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:45602078delA	ENST00000379151.4	+	8	1066	c.963delA	c.(961-963)atafs	p.I321fs	RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000361121.2_Frame_Shift_Del_p.I321fs|GPALPP1_ENST00000357537.3_Frame_Shift_Del_p.I151fs	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	321																	AAGCCCTAATAAAAAAATCTA	0.328																																																	0													65.0	77.0	73.0					13																	45602078		2203	4299	6502	SO:0001589	frameshift_variant	0			AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.963delA	13.37:g.45602078delA	ENSP00000368447:p.Ile321fs		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Frame_Shift_Del	DEL	pfam_DUF3752	p.K323fs	ENST00000379151.4	37	c.963	CCDS9394.1	13																																																																																			GPALPP1	-	pfam_DUF3752	ENSG00000133114		0.328	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPALPP1	HGNC	protein_coding	OTTHUMT00000044749.2		0.00	70	0	A	NM_018559		45602078	+1	tier1		no_errors	ENST00000361121	ensembl	human	known	74_37	frame_shift_del	9.23	118	12	DEL	1.000	-
GPATCH4	54865	genome.wustl.edu	37	1	156571203	156571203	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:156571203T>C	ENST00000438976.2	-	1	59	c.29A>G	c.(28-30)gAc>gGc	p.D10G	GPATCH4_ENST00000334588.7_5'UTR|GPATCH4_ENST00000368232.4_5'UTR|GPATCH4_ENST00000497287.1_5'Flank			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	0							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCCCTTACCGTCATTGCTGGG	0.577																																																	0													39.0	42.0	41.0					1																	156571203		1890	4110	6000	SO:0001583	missense	0			BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.29A>G	1.37:g.156571203T>C	ENSP00000396441:p.Asp10Gly		Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.D10G	ENST00000438976.2	37	c.29	CCDS44245.1	1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.467302	0.26335	.	.	ENSG00000160818	ENST00000438976	.	.	.	4.57	3.44	0.39384	.	.	.	.	.	T	0.13970	0.0338	N	0.08118	0	0.80722	D	1	B	0.30068	0.267	B	0.25291	0.059	T	0.05733	-1.0867	8	0.51188	T	0.08	.	6.8803	0.24168	0.0:0.1019:0.0:0.8981	.	10	E9PAV9	.	G	10	.	ENSP00000396441:D10G	D	-	2	0	GPATCH4	154837827	0.004000	0.15560	0.022000	0.16811	0.126000	0.20510	1.431000	0.34925	1.075000	0.40932	0.528000	0.53228	GAC	GPATCH4	-	NULL	ENSG00000160818		0.577	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPATCH4	HGNC	protein_coding	OTTHUMT00000386947.1	-	0.00	38	0	T	NM_017725		156571203	-1	tier1	-	no_errors	ENST00000438976	ensembl	human	known	74_37	missense	35.85	34	19	SNP	0.007	C
GPIHBP1	338328	genome.wustl.edu	37	8	144297286	144297286	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:144297286A>G	ENST00000330824.2	+	4	523	c.448A>G	c.(448-450)Aca>Gca	p.T150A		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	150					cholesterol homeostasis (GO:0042632)|intracellular protein transport (GO:0006886)|positive regulation of chylomicron remnant clearance (GO:0090321)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein import (GO:0017038)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|protein transmembrane transport (GO:0071806)|response to heparin (GO:0071503)|transcytosis (GO:0045056)|triglyceride homeostasis (GO:0070328)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|external side of plasma membrane (GO:0009897)|high-density lipoprotein particle (GO:0034364)	chylomicron binding (GO:0035478)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|protein transmembrane transporter activity (GO:0008320)			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCAGGACCCAACAGGCAAGGG	0.672																																																	0													49.0	52.0	51.0					8																	144297286		2203	4298	6501	SO:0001583	missense	0			AF088057	CCDS34954.1	8q24.3	2014-07-14	2008-02-07						24945	protein-coding gene	gene with protein product	"""endothelial cell LPL transporter"""	612757	"""GPI anchored high density lipoprotein binding protein 1"""			12496272, 17883852, 17620854, 17403372	Standard	NM_178172		Approved	LOC338328, GPI-HBP1	uc003yxu.2	Q8IV16		ENST00000330824.2:c.448A>G	8.37:g.144297286A>G	ENSP00000329266:p.Thr150Ala		Q6P3T2|Q86W15	Missense_Mutation	SNP	pfam_LY6_UPAR	p.T150A	ENST00000330824.2	37	c.448	CCDS34954.1	8	.	.	.	.	.	.	.	.	.	.	A	0.070	-1.203868	0.01581	.	.	ENSG00000182851	ENST00000330824	D	0.82167	-1.58	4.28	2.3	0.28687	.	1.306310	0.05719	N	0.597280	T	0.64472	0.2601	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51309	-0.8722	10	0.02654	T	1	-6.5219	8.8687	0.35303	0.4106:0.5893:0.0:0.0	.	150	Q8IV16	HDBP1_HUMAN	A	150	ENSP00000329266:T150A	ENSP00000329266:T150A	T	+	1	0	GPIHBP1	144368661	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.061000	0.11693	0.924000	0.37069	-0.419000	0.06015	ACA	GPIHBP1	-	NULL	ENSG00000182851		0.672	GPIHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPIHBP1	HGNC	protein_coding	OTTHUMT00000381113.1	-	0.00	32	0	A	NM_178172		144297286	+1	tier1	-	no_errors	ENST00000330824	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.000	G
GPNMB	10457	genome.wustl.edu	37	7	23313743	23313743	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:23313743G>T	ENST00000381990.2	+	11	1780	c.1619G>T	c.(1618-1620)gGc>gTc	p.G540V	GPNMB_ENST00000478451.1_3'UTR|GPNMB_ENST00000258733.4_Missense_Mutation_p.G528V|GPNMB_ENST00000539136.1_Missense_Mutation_p.G429V|GPNMB_ENST00000453162.2_Missense_Mutation_p.G482V	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	540					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			AGAAGCAAAGGCCTGAGTGTC	0.393																																																	0													84.0	85.0	85.0					7																	23313743		2203	4300	6503	SO:0001583	missense	0			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1619G>T	7.37:g.23313743G>T	ENSP00000371420:p.Gly540Val		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.G540V	ENST00000381990.2	37	c.1619	CCDS34610.1	7	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354710	0.41700	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.17854	2.25;2.25;2.26;2.27	6.07	5.18	0.71444	.	0.387393	0.25272	N	0.031879	T	0.39064	0.1064	L	0.58101	1.795	0.51233	D	0.999911	D;D;D;D	0.76494	0.996;0.999;0.994;0.989	D;D;P;P	0.70227	0.925;0.968;0.856;0.79	T	0.19484	-1.0304	10	0.66056	D	0.02	-11.0704	16.3927	0.83545	0.0:0.0:0.867:0.133	.	429;482;540;528	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	V	528;575;540;423;429;482	ENSP00000258733:G528V;ENSP00000371420:G540V;ENSP00000445266:G429V;ENSP00000405586:G482V	ENSP00000258733:G528V	G	+	2	0	GPNMB	23280268	0.976000	0.34144	0.123000	0.21794	0.014000	0.08584	3.605000	0.54088	1.558000	0.49541	-0.181000	0.13052	GGC	GPNMB	-	NULL	ENSG00000136235		0.393	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPNMB	HGNC	protein_coding	OTTHUMT00000327152.1	-	0.00	58	0	G	NM_001005340		23313743	+1	tier1	-	no_errors	ENST00000381990	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.348	T
GPR101	83550	genome.wustl.edu	37	X	136113358	136113358	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:136113358G>A	ENST00000298110.1	-	1	475	c.476C>T	c.(475-477)gCc>gTc	p.A159V		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CTGCAGGATGGCCACAATCCA	0.607																																																	0													54.0	43.0	47.0					X																	136113358		2203	4300	6503	SO:0001583	missense	0			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.476C>T	X.37:g.136113358G>A	ENSP00000298110:p.Ala159Val		Q5JSM8|Q8NG93	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A159V	ENST00000298110.1	37	c.476	CCDS14662.1	X	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139039	0.77775	.	.	ENSG00000165370	ENST00000298110	T	0.40756	1.02	5.04	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33610	N	0.004736	T	0.57666	0.2069	M	0.67569	2.06	0.37335	D	0.91015	D	0.69078	0.997	D	0.67725	0.953	T	0.66122	-0.6002	10	0.87932	D	0	-21.9467	9.8482	0.41039	0.0:0.4043:0.5957:0.0	.	159	Q96P66	GP101_HUMAN	V	159	ENSP00000298110:A159V	ENSP00000298110:A159V	A	-	2	0	GPR101	135941024	0.959000	0.32827	1.000000	0.80357	0.986000	0.74619	3.143000	0.50608	2.081000	0.62600	0.600000	0.82982	GCC	GPR101	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000165370		0.607	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR101	HGNC	protein_coding	OTTHUMT00000058519.1	-	0.00	39	0	G			136113358	-1	tier1	-	no_errors	ENST00000298110	ensembl	human	known	74_37	missense	80.65	6	25	SNP	1.000	A
GPR114	221188	genome.wustl.edu	37	16	57600566	57600566	+	Frame_Shift_Del	DEL	G	G	-	rs201845314		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:57600566delG	ENST00000340339.4	+	7	1125	c.602delG	c.(601-603)tggfs	p.W201fs	GPR114_ENST00000349457.3_Frame_Shift_Del_p.W201fs|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	201	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W204fs*4(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						AAACAGCCCTGGGGGGGCTGG	0.602																																																	1	Insertion - Frameshift(1)	ovary(1)											60.0	63.0	62.0					16																	57600566		2198	4300	6498	SO:0001589	frameshift_variant	0			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.602delG	16.37:g.57600566delG	ENSP00000342981:p.Trp201fs		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.G203fs	ENST00000340339.4	37	c.602	CCDS10785.1	16																																																																																			GPR114	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000159618		0.602	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR114	HGNC	protein_coding	OTTHUMT00000257336.3		0.00	32	0	G	NM_153837		57600566	+1	tier1		no_errors	ENST00000340339	ensembl	human	known	74_37	frame_shift_del	26.32	14	5	DEL	0.995	-
GPR115	221393	genome.wustl.edu	37	6	47678531	47678531	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:47678531T>C	ENST00000283303.2	+	4	467	c.209T>C	c.(208-210)tTt>tCt	p.F70S	GPR115_ENST00000371220.1_Missense_Mutation_p.F127S|GPR115_ENST00000327753.3_Missense_Mutation_p.F70S	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	70					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCTAAGGACTTTCATGGAGAA	0.393																																					GBM(22;431 510 9010 26644 32828)												0													93.0	99.0	97.0					6																	47678531		2203	4300	6503	SO:0001583	missense	0			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.209T>C	6.37:g.47678531T>C	ENSP00000283303:p.Phe70Ser		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.F127S	ENST00000283303.2	37	c.380	CCDS4922.2	6	.	.	.	.	.	.	.	.	.	.	T	13.28	2.190586	0.38707	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.35048	1.54;1.33;1.33	5.71	4.53	0.55603	.	0.000000	0.64402	D	0.000001	T	0.16128	0.0388	L	0.58669	1.825	0.24121	N	0.995808	P	0.41929	0.765	B	0.37198	0.243	T	0.04386	-1.0955	10	0.37606	T	0.19	-21.9663	10.1783	0.42952	0.1485:0.0:0.0:0.8515	.	70	Q8IZF3	GP115_HUMAN	S	127;70;70	ENSP00000360264:F127S;ENSP00000328319:F70S;ENSP00000283303:F70S	ENSP00000283303:F70S	F	+	2	0	GPR115	47786490	0.977000	0.34250	0.057000	0.19452	0.329000	0.28539	2.778000	0.47726	1.064000	0.40671	0.533000	0.62120	TTT	GPR115	-	prints_GPCR_2_Ig-hepta_rcpt	ENSG00000153294		0.393	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	HGNC	protein_coding	OTTHUMT00000040819.2	-	0.00	59	0	T	NM_153838		47678531	+1	tier1	-	no_errors	ENST00000371220	ensembl	human	known	74_37	missense	31.94	48	23	SNP	0.471	C
GPR115	221393	genome.wustl.edu	37	6	47678561	47678561	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:47678561delA	ENST00000283303.2	+	4	497	c.239delA	c.(238-240)caafs	p.Q80fs	GPR115_ENST00000371220.1_Frame_Shift_Del_p.Q137fs|GPR115_ENST00000327753.3_Frame_Shift_Del_p.Q80fs	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	80					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ACATGTAATCAAAAAAAGTGG	0.383																																					GBM(22;431 510 9010 26644 32828)												0													107.0	111.0	110.0					6																	47678561		2203	4300	6503	SO:0001589	frameshift_variant	0			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.239delA	6.37:g.47678561delA	ENSP00000283303:p.Gln80fs		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.K139fs	ENST00000283303.2	37	c.410	CCDS4922.2	6																																																																																			GPR115	-	prints_GPCR_2_Ig-hepta_rcpt	ENSG00000153294		0.383	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	HGNC	protein_coding	OTTHUMT00000040819.2		0.00	72	0	A	NM_153838		47678561	+1	tier1		no_errors	ENST00000371220	ensembl	human	known	74_37	frame_shift_del	45.71	38	32	DEL	0.923	-
GPR116	221395	genome.wustl.edu	37	6	46851912	46851912	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:46851912C>T	ENST00000283296.7	-	5	713	c.425G>A	c.(424-426)cGt>cAt	p.R142H	GPR116_ENST00000265417.7_Missense_Mutation_p.R142H|GPR116_ENST00000362015.4_Missense_Mutation_p.R142H|GPR116_ENST00000478711.1_5'Flank|GPR116_ENST00000456426.2_Missense_Mutation_p.R142H	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	142					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GAAGACGTCACGCTCTTGACA	0.493																																					NSCLC(59;410 1274 8751 36715 50546)												0													153.0	131.0	138.0					6																	46851912		2203	4300	6503	SO:0001583	missense	0			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.425G>A	6.37:g.46851912C>T	ENSP00000283296:p.Arg142His		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.R142H	ENST00000283296.7	37	c.425	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.023165	0.00414	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.25085	1.82;2.2;1.83;1.82	5.17	-0.506	0.11989	.	1.011940	0.07918	N	0.975448	T	0.00967	0.0032	N	0.00162	-1.95	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.39603	-0.9606	10	0.10902	T	0.67	-0.0167	1.1564	0.01797	0.1478:0.1707:0.1533:0.5282	.	142;142;142	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	H	142	ENSP00000283296:R142H;ENSP00000354563:R142H;ENSP00000412866:R142H;ENSP00000265417:R142H	ENSP00000265417:R142H	R	-	2	0	GPR116	46959871	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.357000	0.07651	-0.237000	0.09739	-0.294000	0.09567	CGT	GPR116	-	prints_GPCR_2_Ig-hepta_rcpt	ENSG00000069122		0.493	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	-	0.00	45	0	C	NM_015234		46851912	-1	tier1	-	no_errors	ENST00000265417	ensembl	human	known	74_37	missense	30.56	25	11	SNP	0.000	T
GPR123	84435	genome.wustl.edu	37	10	134902466	134902466	+	Intron	DEL	G	G	-	rs368615525		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:134902466delG	ENST00000392607.3	+	2	439				GPR123_ENST00000607359.1_Frame_Shift_Del_p.R562fs|RP13-439H18.4_ENST00000444433.1_RNA	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123						G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AGGCCGCTGCGGGGGGGCGGC	0.701																																																	0										21,3113		7,7,1553	5.0	7.0	6.0			0.9	0.0	10		6	36,6674		9,18,3328	no	intron	GPR123	NM_001083909.1		16,25,4881	A1A1,A1R,RR		0.5365,0.6701,0.579			134902466	57,9787	1873	3848	5721	SO:0001627	intron_variant	0			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.3+50G>-	10.37:g.134902466delG			A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	p.G564fs	ENST00000392607.3	37	c.1685	CCDS41580.1	10																																																																																			GPR123	-	NULL	ENSG00000197177		0.701	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	GPR123	HGNC	protein_coding	OTTHUMT00000051113.2		0.00	24	0	G			134902466	+1			no_errors	ENST00000607359	ensembl	human	putative	74_37	frame_shift_del	32.26	21	10	DEL	0.000	0
GPR124	25960	genome.wustl.edu	37	8	37692814	37692814	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:37692814C>T	ENST00000412232.2	+	12	1744	c.1731C>T	c.(1729-1731)ggC>ggT	p.G577G	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	577					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GAAGCCCTGGCCAGAACCCCC	0.667																																																	0													34.0	39.0	37.0					8																	37692814		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1731C>T	8.37:g.37692814C>T			A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.G577	ENST00000412232.2	37	c.1731	CCDS6097.2	8																																																																																			GPR124	-	NULL	ENSG00000020181		0.667	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2	-	0.00	74	0	C			37692814	+1	tier1	-	no_errors	ENST00000412232	ensembl	human	known	74_37	silent	34.62	34	18	SNP	0.828	T
GPR124	25960	genome.wustl.edu	37	8	37696506	37696506	+	Silent	SNP	C	C	T	rs147055217		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:37696506C>T	ENST00000412232.2	+	15	2305	c.2292C>T	c.(2290-2292)ggC>ggT	p.G764G	GPR124_ENST00000315215.7_Silent_p.G547G	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	764					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G757G(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGGTGGGGGGCGCCGGGGCAG	0.662													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17926	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	33.0	35.0	34.0		2292	3.5	0.8	8	dbSNP_134	34	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GPR124	NM_032777.9		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		764/1339	37696506	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2292C>T	8.37:g.37696506C>T			A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.G764	ENST00000412232.2	37	c.2292	CCDS6097.2	8																																																																																			GPR124	-	NULL	ENSG00000020181		0.662	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2	-	0.00	50	0	C			37696506	+1	tier1	rs147055217	no_errors	ENST00000412232	ensembl	human	known	74_37	silent	24.44	34	11	SNP	0.025	T
GPR144	347088	genome.wustl.edu	37	9	127214852	127214852	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:127214852G>A	ENST00000334810.1	+	3	188	c.188G>A	c.(187-189)cGa>cAa	p.R63Q				Q7Z7M1	GP144_HUMAN	G protein-coupled receptor 144	63					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)	4						TCTGGACAGCGACTGAGCTGG	0.622																																																	0													55.0	59.0	58.0					9																	127214852		692	1591	2283	SO:0001583	missense	0			AY278562		9q34.11	2014-08-08			ENSG00000180264	ENSG00000180264		"""-"", ""GPCR / Class B : Orphans"""	18651	protein-coding gene	gene with protein product							Standard	XM_006710216		Approved	PGR24	uc010mwn.3	Q7Z7M1	OTTHUMG00000020652	ENST00000334810.1:c.188G>A	9.37:g.127214852G>A	ENSP00000335156:p.Arg63Gln		Q86SL4|Q8NH12	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_Pentaxin,prints_GPCR_2_secretin-like	p.R63Q	ENST00000334810.1	37	c.188	CCDS48016.1	9	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113307	0.37339	.	.	ENSG00000180264	ENST00000334810;ENST00000536897	T	0.52057	0.68	5.06	0.816	0.18768	.	.	.	.	.	T	0.18341	0.0440	N	0.17082	0.46	0.09310	N	1	P	0.39624	0.681	B	0.23852	0.049	T	0.08659	-1.0711	9	0.16420	T	0.52	.	1.7153	0.02900	0.1644:0.2368:0.3876:0.2111	.	63	Q7Z7M1	GP144_HUMAN	Q	63;33	ENSP00000335156:R63Q	ENSP00000335156:R63Q	R	+	2	0	GPR144	126254673	0.003000	0.15002	0.642000	0.29436	0.943000	0.58893	-0.379000	0.07437	0.493000	0.27837	0.561000	0.74099	CGA	GPR144	-	superfamily_C-type_lectin_fold	ENSG00000180264		0.622	GPR144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR144	HGNC	protein_coding	OTTHUMT00000054026.2	-	0.00	104	0	G	NM_182611		127214852	+1	tier1	-	no_errors	ENST00000334810	ensembl	human	known	74_37	missense	29.27	58	24	SNP	0.027	A
GPR144	347088	genome.wustl.edu	37	9	127220451	127220451	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:127220451C>A	ENST00000334810.1	+	9	1621	c.1621C>A	c.(1621-1623)Cta>Ata	p.L541I				Q7Z7M1	GP144_HUMAN	G protein-coupled receptor 144	541					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)	4						CCAGCACACCCTAGAGGGACC	0.652																																																	0													60.0	62.0	62.0					9																	127220451		692	1591	2283	SO:0001583	missense	0			AY278562		9q34.11	2014-08-08			ENSG00000180264	ENSG00000180264		"""-"", ""GPCR / Class B : Orphans"""	18651	protein-coding gene	gene with protein product							Standard	XM_006710216		Approved	PGR24	uc010mwn.3	Q7Z7M1	OTTHUMG00000020652	ENST00000334810.1:c.1621C>A	9.37:g.127220451C>A	ENSP00000335156:p.Leu541Ile		Q86SL4|Q8NH12	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_Pentaxin,prints_GPCR_2_secretin-like	p.L541I	ENST00000334810.1	37	c.1621	CCDS48016.1	9	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594053	0.28445	.	.	ENSG00000180264	ENST00000334810;ENST00000439837	T	0.52295	0.67	4.74	1.29	0.21616	.	.	.	.	.	T	0.33206	0.0855	L	0.55481	1.735	0.09310	N	1	P	0.39282	0.666	B	0.35039	0.194	T	0.13953	-1.0490	9	0.13853	T	0.58	.	4.6176	0.12433	0.1775:0.6019:0.0:0.2206	.	541	Q7Z7M1	GP144_HUMAN	I	541;272	ENSP00000335156:L541I	ENSP00000335156:L541I	L	+	1	2	GPR144	126260272	0.000000	0.05858	0.129000	0.21949	0.003000	0.03518	-0.259000	0.08721	0.406000	0.25560	0.561000	0.74099	CTA	GPR144	-	NULL	ENSG00000180264		0.652	GPR144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR144	HGNC	protein_coding	OTTHUMT00000054026.2	-	0.00	51	0	C	NM_182611		127220451	+1	tier1	-	no_errors	ENST00000334810	ensembl	human	known	74_37	missense	45.24	23	19	SNP	0.097	A
GPR158	57512	genome.wustl.edu	37	10	25889407	25889407	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:25889407delT	ENST00000376351.3	+	0	5211				GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158						protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAAGGGATTATTTTTTTAAAG	0.289																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.*1204T>-	10.37:g.25889407delT			Q6QR81|Q9ULT3	RNA	DEL	-	NULL	ENST00000376351.3	37	NULL	CCDS31166.1	10																																																																																			GPR158	-	-	ENSG00000151025		0.289	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	HGNC	protein_coding	OTTHUMT00000047248.2		0.00	9	0	T	XM_166110		25889407	+1	tier1		no_errors	ENST00000490549	ensembl	human	known	74_37	rna	42.86	4	3	DEL	1.000	-
GPR174	84636	genome.wustl.edu	37	X	78427238	78427238	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:78427238C>T	ENST00000276077.1	+	1	770	c.734C>T	c.(733-735)cCt>cTt	p.P245L		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TGCTTTGCACCTTATCATTTC	0.398										HNSCC(63;0.18)																																							0													112.0	101.0	105.0					X																	78427238		2203	4300	6503	SO:0001583	missense	0			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.734C>T	X.37:g.78427238C>T	ENSP00000276077:p.Pro245Leu		Q2M3F7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P245L	ENST00000276077.1	37	c.734	CCDS14443.1	X	.	.	.	.	.	.	.	.	.	.	c	20.4	3.988374	0.74589	.	.	ENSG00000147138	ENST00000276077	T	0.79845	-1.31	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91985	0.7461	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93975	0.7253	10	0.87932	D	0	.	16.2284	0.82315	0.0:1.0:0.0:0.0	.	245	Q9BXC1	GP174_HUMAN	L	245	ENSP00000276077:P245L	ENSP00000276077:P245L	P	+	2	0	GPR174	78313894	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.586000	0.82596	2.139000	0.66308	0.488000	0.48403	CCT	GPR174	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000147138		0.398	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR174	HGNC	protein_coding	OTTHUMT00000057327.1	-	0.00	15	0	C	NM_032553		78427238	+1	tier1	-	no_errors	ENST00000276077	ensembl	human	known	74_37	missense	82.35	3	14	SNP	1.000	T
GPR18	2841	genome.wustl.edu	37	13	99907471	99907471	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:99907471G>A	ENST00000340807.3	-	3	1212	c.656C>T	c.(655-657)aCg>aTg	p.T219M	GPR18_ENST00000397470.2_Missense_Mutation_p.T219M|GPR18_ENST00000397473.2_Missense_Mutation_p.T219M|UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	219					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	CAGCTTAGACGTCCTGCCGTG	0.453																																																	0													161.0	129.0	139.0					13																	99907471		2203	4300	6503	SO:0001583	missense	0			L42324	CCDS9491.1	13q32	2014-01-30			ENSG00000125245	ENSG00000125245		"""GPCR / Class A : Orphans"""	4472	protein-coding gene	gene with protein product		602042				9205118	Standard	NM_005292		Approved		uc010afv.3	Q14330	OTTHUMG00000017266	ENST00000340807.3:c.656C>T	13.37:g.99907471G>A	ENSP00000343428:p.Thr219Met		Q6GTM3|Q96HI6|Q9H2L2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.T219M	ENST00000340807.3	37	c.656	CCDS9491.1	13	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055015	0.75960	.	.	ENSG00000125245	ENST00000397473;ENST00000397470;ENST00000340807	T;T;T	0.38401	1.14;1.14;1.14	5.88	4.98	0.66077	GPCR, rhodopsin-like superfamily (1);	0.051693	0.85682	D	0.000000	T	0.59321	0.2185	M	0.76328	2.33	0.58432	D	0.999999	D	0.89917	1.0	D	0.70227	0.968	T	0.59101	-0.7517	9	.	.	.	-21.414	15.8286	0.78733	0.0:0.0:0.8635:0.1365	.	219	Q14330	GPR18_HUMAN	M	219	ENSP00000380613:T219M;ENSP00000380610:T219M;ENSP00000343428:T219M	.	T	-	2	0	GPR18	98705472	1.000000	0.71417	0.823000	0.32752	0.939000	0.58152	7.555000	0.82223	2.780000	0.95670	0.655000	0.94253	ACG	GPR18	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000125245		0.453	GPR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR18	HGNC	protein_coding	OTTHUMT00000045585.1	-	0.00	60	0	G			99907471	-1	tier1	-	no_errors	ENST00000340807	ensembl	human	known	74_37	missense	33.33	38	19	SNP	1.000	A
GPR183	1880	genome.wustl.edu	37	13	99947438	99947438	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:99947438C>A	ENST00000376414.4	-	2	1045	c.962G>T	c.(961-963)aGg>aTg	p.R321M	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	321					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TTTCAGCATCCTCATAACCTT	0.403																																																	0													129.0	119.0	122.0					13																	99947438		2203	4300	6503	SO:0001583	missense	0			L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"""GPCR / Class A : Orphans"""	3128	protein-coding gene	gene with protein product	"""EBV-induced G-protein coupled receptor 2"""	605741	"""Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"""	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.962G>T	13.37:g.99947438C>A	ENSP00000365596:p.Arg321Met		B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R321M	ENST00000376414.4	37	c.962	CCDS9492.1	13	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263896	0.39995	.	.	ENSG00000169508	ENST00000376414	T	0.24151	1.87	5.91	0.805	0.18703	.	0.099312	0.64402	D	0.000002	T	0.10895	0.0266	N	0.19112	0.55	0.33966	D	0.646239	P	0.45348	0.856	B	0.35899	0.213	T	0.32903	-0.9889	9	.	.	.	.	5.4645	0.16635	0.1176:0.1951:0.0:0.6873	.	321	P32249	GP183_HUMAN	M	321	ENSP00000365596:R321M	.	R	-	2	0	GPR183	98745439	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	3.969000	0.56816	-0.062000	0.13088	-1.093000	0.02169	AGG	GPR183	-	pfam_7TM_GPCR_olfarory/Srsx	ENSG00000169508		0.403	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR183	HGNC	protein_coding	OTTHUMT00000045582.2	-	0.00	84	0	C	NM_004951		99947438	-1	tier1	-	no_errors	ENST00000376414	ensembl	human	known	74_37	missense	20.75	84	22	SNP	1.000	A
GPR20	2843	genome.wustl.edu	37	8	142367058	142367058	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:142367058G>A	ENST00000377741.3	-	2	1056	c.966C>T	c.(964-966)agC>agT	p.S322S	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	322					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CCACGTCACCGCTGCTGGGCT	0.657																																																	0													75.0	64.0	68.0					8																	142367058		2203	4300	6503	SO:0001819	synonymous_variant	0			U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.966C>T	8.37:g.142367058G>A			Q17R96	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S322	ENST00000377741.3	37	c.966	CCDS34949.1	8																																																																																			GPR20	-	NULL	ENSG00000204882		0.657	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR20	HGNC	protein_coding	OTTHUMT00000378968.1	-	0.00	89	0	G	NM_005293		142367058	-1	tier1	-	no_errors	ENST00000377741	ensembl	human	known	74_37	silent	27.52	79	30	SNP	0.000	A
GPR20	2843	genome.wustl.edu	37	8	142367352	142367352	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:142367352C>T	ENST00000377741.3	-	2	762	c.672G>A	c.(670-672)tcG>tcA	p.S224S	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	224					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GACCCGGCCGCGACAGTGCAC	0.657																																																	0													9.0	9.0	9.0					8																	142367352		2075	4094	6169	SO:0001819	synonymous_variant	0			U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.672G>A	8.37:g.142367352C>T			Q17R96	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.S224	ENST00000377741.3	37	c.672	CCDS34949.1	8																																																																																			GPR20	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000204882		0.657	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR20	HGNC	protein_coding	OTTHUMT00000378968.1	-	0.00	47	0	C	NM_005293		142367352	-1	tier1	-	no_errors	ENST00000377741	ensembl	human	known	74_37	silent	37.21	27	16	SNP	0.005	T
GPR20	2843	genome.wustl.edu	37	8	142367375	142367375	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:142367375C>T	ENST00000377741.3	-	2	739	c.649G>A	c.(649-651)Ggc>Agc	p.G217S	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	217					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			ATGATGCGGCCGGTAAACACG	0.667																																																	0													9.0	10.0	10.0					8																	142367375		2073	4107	6180	SO:0001583	missense	0			U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.649G>A	8.37:g.142367375C>T	ENSP00000366970:p.Gly217Ser		Q17R96	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G217S	ENST00000377741.3	37	c.649	CCDS34949.1	8	.	.	.	.	.	.	.	.	.	.	C	6.080	0.383070	0.11524	.	.	ENSG00000204882	ENST00000377741	T	0.71817	-0.6	4.77	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.798454	0.10891	U	0.622648	T	0.45935	0.1367	N	0.17564	0.495	0.09310	N	1	P	0.46784	0.884	B	0.36092	0.217	T	0.18808	-1.0325	10	0.13470	T	0.59	-30.3208	6.1013	0.20049	0.0:0.5357:0.3585:0.1057	.	217	Q99678	GPR20_HUMAN	S	217	ENSP00000366970:G217S	ENSP00000366970:G217S	G	-	1	0	GPR20	142436557	0.000000	0.05858	0.973000	0.42090	0.183000	0.23260	-0.309000	0.08145	2.197000	0.70478	0.462000	0.41574	GGC	GPR20	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000204882		0.667	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR20	HGNC	protein_coding	OTTHUMT00000378968.1	-	0.00	44	0	C	NM_005293		142367375	-1	tier1	-	no_errors	ENST00000377741	ensembl	human	known	74_37	missense	33.33	28	14	SNP	0.001	T
GPR37	2861	genome.wustl.edu	37	7	124387326	124387326	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:124387326G>A	ENST00000303921.2	-	2	1745	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	365					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACATCTGTACGTTGGTGGCAG	0.468																																																	0													76.0	75.0	75.0					7																	124387326		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.1095C>T	7.37:g.124387326G>A			A4D0Y6|O00348|O14768|Q8TD39	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn	p.N365	ENST00000303921.2	37	c.1095	CCDS5792.1	7																																																																																			GPR37	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000170775		0.468	GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR37	HGNC	protein_coding	OTTHUMT00000347873.1	-	0.00	118	0	G	NM_005302		124387326	-1	tier1	-	no_errors	ENST00000303921	ensembl	human	known	74_37	silent	32.99	64	32	SNP	0.998	A
GPR68	8111	genome.wustl.edu	37	14	91700596	91700596	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:91700596C>T	ENST00000531499.2	-	2	1138	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	GPR68_ENST00000529300.1_5'Flank|GPR68_ENST00000535815.1_Missense_Mutation_p.A267T|GPR68_ENST00000238699.3_Missense_Mutation_p.A277T			Q15743	OGR1_HUMAN	G protein-coupled receptor 68	267					cellular response to pH (GO:0071467)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of osteoclast development (GO:2001206)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		AAGTGGTAGGCGTTGAAAACG	0.647																																																	0													24.0	21.0	22.0					14																	91700596		2192	4283	6475	SO:0001583	missense	0			U48405	CCDS9894.1, CCDS9894.2	14q31	2012-08-21				ENSG00000119714		"""GPCR / Class A : Orphans"""	4519	protein-coding gene	gene with protein product		601404				8661159	Standard	NM_001177676		Approved	OGR1	uc001xzg.3	Q15743		ENST00000531499.2:c.799G>A	14.37:g.91700596C>T	ENSP00000434045:p.Ala267Thr		Q13334|Q4VBB4|Q6IX34	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_Psych_rcpt	p.A277T	ENST00000531499.2	37	c.829	CCDS9894.2	14	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739422	0.30774	.	.	ENSG00000119714	ENST00000531499;ENST00000238699;ENST00000535815;ENST00000529102	T;T;T;T	0.38401	1.14;1.14;1.14;1.14	5.26	0.487	0.16842	GPCR, rhodopsin-like superfamily (1);	0.715972	0.13469	N	0.385591	T	0.24699	0.0599	L	0.38733	1.17	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.19666	0.026;0.026	T	0.23583	-1.0184	10	0.22109	T	0.4	.	7.9342	0.29920	0.0:0.5854:0.1142:0.3005	.	267;267	Q6NWR5;Q15743	.;OGR1_HUMAN	T	267;277;267;267	ENSP00000434045:A267T;ENSP00000238699:A277T;ENSP00000440797:A267T;ENSP00000432740:A267T	ENSP00000238699:A277T	A	-	1	0	GPR68	90770349	0.133000	0.22466	0.803000	0.32268	0.970000	0.65996	0.214000	0.17541	0.583000	0.29574	0.555000	0.69702	GCC	GPR68	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000119714		0.647	GPR68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR68	HGNC	protein_coding	OTTHUMT00000395245.2	-	0.00	44	0	C			91700596	-1	tier1	-	no_errors	ENST00000238699	ensembl	human	known	74_37	missense	46.30	29	25	SNP	0.054	T
GPR83	10888	genome.wustl.edu	37	11	94134356	94134356	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:94134356G>T	ENST00000243673.2	-	1	229	c.58C>A	c.(58-60)Cac>Aac	p.H20N	GPR83_ENST00000539203.2_Missense_Mutation_p.H20N	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	20					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CGGCCCTCGTGGGGCTCGGTG	0.682																																																	0													26.0	29.0	28.0					11																	94134356		2199	4293	6492	SO:0001583	missense	0			AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.58C>A	11.37:g.94134356G>T	ENSP00000243673:p.His20Asn		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.H20N	ENST00000243673.2	37	c.58	CCDS8297.1	11	.	.	.	.	.	.	.	.	.	.	G	6.724	0.502252	0.12822	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.60040	0.22;0.32	4.04	3.12	0.35913	.	0.203496	0.35207	N	0.003371	T	0.32194	0.0821	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.14448	-1.0472	10	0.32370	T	0.25	.	7.3766	0.26831	0.2881:0.0:0.7119:0.0	.	20	Q9NYM4	GPR83_HUMAN	N	20	ENSP00000243673:H20N;ENSP00000441550:H20N	ENSP00000243673:H20N	H	-	1	0	GPR83	93774004	0.269000	0.24143	0.052000	0.19188	0.039000	0.13416	2.206000	0.42779	0.700000	0.31782	0.462000	0.41574	CAC	GPR83	-	NULL	ENSG00000123901		0.682	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	HGNC	protein_coding	OTTHUMT00000396232.1	-	0.00	18	0	G	NM_016540		94134356	-1	tier1	-	no_errors	ENST00000243673	ensembl	human	known	74_37	missense	45.83	13	11	SNP	0.003	T
GPR84	53831	genome.wustl.edu	37	12	54756738	54756738	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:54756738G>T	ENST00000551809.1	-	1	1533	c.898C>A	c.(898-900)Cca>Aca	p.P300T	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.P300T			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CCTTTAATTGGCTGGGCTTTG	0.507																																																	0													118.0	124.0	122.0					12																	54756738		2203	4300	6503	SO:0001583	missense	0			AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.898C>A	12.37:g.54756738G>T	ENSP00000450310:p.Pro300Thr		B6V9G7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P300T	ENST00000551809.1	37	c.898	CCDS8878.1	12	.	.	.	.	.	.	.	.	.	.	G	0.081	-1.182996	0.01620	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.61392	0.11;0.11	4.6	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	0.443289	0.18426	N	0.141600	T	0.41994	0.1183	L	0.47716	1.5	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.21518	-1.0243	10	0.12766	T	0.61	0.101	6.414	0.21705	0.0:0.1809:0.4444:0.3748	.	300	Q9NQS5	GPR84_HUMAN	T	300	ENSP00000267015:P300T;ENSP00000450310:P300T	ENSP00000267015:P300T	P	-	1	0	GPR84	53043005	0.011000	0.17503	0.026000	0.17262	0.446000	0.32137	1.295000	0.33377	0.434000	0.26340	0.561000	0.74099	CCA	GPR84	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000139572		0.507	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPR84	HGNC	protein_coding	OTTHUMT00000406156.1	-	0.00	85	0	G			54756738	-1	tier1	-	no_errors	ENST00000267015	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.000	T
GPR84	53831	genome.wustl.edu	37	12	54757554	54757554	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:54757554delC	ENST00000551809.1	-	1	717	c.82delG	c.(82-84)gtgfs	p.V30fs	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Frame_Shift_Del_p.V30fs			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GCCACCACCACCCCCCAGCTA	0.562																																																	0										57,4207		28,1,2103	124.0	98.0	107.0			3.7	0.1	12		107	165,8089		81,3,4043	no	frameshift	GPR84	NM_020370.2		109,4,6146	A1A1,A1R,RR		1.999,1.3368,1.7734			54757554	222,12296	2203	4300	6503	SO:0001589	frameshift_variant	0			AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.82delG	12.37:g.54757554delC	ENSP00000450310:p.Val30fs		B6V9G7	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V28fs	ENST00000551809.1	37	c.82	CCDS8878.1	12																																																																																			GPR84	-	prints_GPCR_Rhodpsn	ENSG00000139572		0.562	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPR84	HGNC	protein_coding	OTTHUMT00000406156.1		0.00	60	0	C			54757554	-1	tier1		no_errors	ENST00000267015	ensembl	human	known	74_37	frame_shift_del	35.56	29	16	DEL	0.000	-
GPR87	53836	genome.wustl.edu	37	3	151012592	151012593	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:151012592_151012593insA	ENST00000260843.4	-	3	905_906	c.441_442insT	c.(439-444)tttgggfs	p.G148fs	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	148					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGAGAGTCCCCAAATGGCTTGA	0.416																																																	0																																										SO:0001589	frameshift_variant	0			AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.442dupT	3.37:g.151012595_151012595dupA	ENSP00000260843:p.Gly148fs		Q5KU35|Q96JZ8|Q9BXC2	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt	p.G147fs	ENST00000260843.4	37	c.442_441	CCDS3157.1	3																																																																																			GPR87	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y14_rcpt	ENSG00000138271		0.416	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR87	HGNC	protein_coding	OTTHUMT00000357788.1		0.00	45	0	-			151012593	-1	tier1		no_errors	ENST00000260843	ensembl	human	known	74_37	frame_shift_ins	24.14	22	7	INS	1.000:0.999	A
GPR89A	653519	genome.wustl.edu	37	1	145811901	145811901	+	Missense_Mutation	SNP	C	C	T	rs587615888		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:145811901C>T	ENST00000313835.9	-	4	451	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	GPR89A_ENST00000454423.3_5'UTR|GPR89A_ENST00000534502.1_Missense_Mutation_p.R78Q|GPR89A_ENST00000462900.2_Missense_Mutation_p.R78Q			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	103					intracellular pH reduction (GO:0051452)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein transport (GO:0015031)|regulation of anion transport (GO:0044070)|signal transduction (GO:0007165)	Golgi cisterna membrane (GO:0032580)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)|voltage-gated anion channel activity (GO:0008308)			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			CTTACGTAGTCGGATATTGCT	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		15919	0.0		0.001	False		,,,				2504	0.0																0													119.0	128.0	125.0					1																	145811901		2203	4299	6502	SO:0001583	missense	0			AB097024	CCDS72857.1, CCDS72858.1	1q21.1	2008-12-17	2007-06-06	2007-06-06	ENSG00000117262	ENSG00000117262			31984	protein-coding gene	gene with protein product		612821					Standard	NM_001097612		Approved	UNQ192	uc001eot.2	B7ZAQ6	OTTHUMG00000013738	ENST00000313835.9:c.308G>A	1.37:g.145811901C>T	ENSP00000319673:p.Arg103Gln		A6NN37|B2RUV3|B3KMN3|B4DLT3|B4DXE7|Q53FQ9|Q5T2V8|Q5T5P5|Q659E2|Q6NVY5|Q9P0S4|Q9Y302	Missense_Mutation	SNP	pfam_ABA_GPCR_dom,pfam_Golgi_pH-regulator_cons_dom	p.R103Q	ENST00000313835.9	37	c.308	CCDS41377.1	1	.	.	.	.	.	.	.	.	.	.	.	9.114	1.007266	0.19199	.	.	ENSG00000117262	ENST00000313835;ENST00000534502;ENST00000462900	.	.	.	3.59	2.65	0.31530	.	0.149182	0.45606	N	0.000344	T	0.27384	0.0672	M	0.62016	1.91	0.80722	D	1	B;B	0.20052	0.041;0.041	B;B	0.08055	0.003;0.003	T	0.15378	-1.0439	9	0.10111	T	0.7	-0.476	8.0251	0.30431	0.0:0.8672:0.0:0.1328	.	103;103	P0CG08;B7ZAQ6	GPHRB_HUMAN;GPHRA_HUMAN	Q	103;78;78	.	ENSP00000319673:R103Q	R	-	2	0	GPR89A	144523258	1.000000	0.71417	0.998000	0.56505	0.350000	0.29205	2.601000	0.46249	0.589000	0.29677	0.195000	0.17529	CGA	GPR89A	-	NULL	ENSG00000117262		0.368	GPR89A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR89A	HGNC	protein_coding	OTTHUMT00000038507.2	-	0.00	35	0	C	NM_001097612		145811901	-1	tier1	-	no_errors	ENST00000313835	ensembl	human	known	74_37	missense	32.73	37	18	SNP	1.000	T
GPR98	84059	genome.wustl.edu	37	5	90124781	90124781	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:90124781delT	ENST00000405460.2	+	77	16485	c.16389delT	c.(16387-16389)tatfs	p.Y5463fs	GPR98_ENST00000425867.2_Frame_Shift_Del_p.Y1124fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5463	Calx-beta 35. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGAAGTGTATTTTTTTGTGG	0.323																																																	0													69.0	65.0	66.0					5																	90124781		1829	4091	5920	SO:0001589	frameshift_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.16389delT	5.37:g.90124781delT	ENSP00000384582:p.Tyr5463fs		O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Del	DEL	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.F5465fs	ENST00000405460.2	37	c.16389	CCDS47246.1	5																																																																																			GPR98	-	NULL	ENSG00000164199		0.323	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2		0.00	28	0	T	NM_032119		90124781	+1	tier1		no_errors	ENST00000405460	ensembl	human	known	74_37	frame_shift_del	43.48	13	10	DEL	0.351	-
GPRC5B	51704	genome.wustl.edu	37	16	19884026	19884026	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:19884026G>T	ENST00000300571.2	-	2	333	c.142C>A	c.(142-144)Ctg>Atg	p.L48M	GPRC5B_ENST00000537135.1_Missense_Mutation_p.L74M|GPRC5B_ENST00000569479.1_Missense_Mutation_p.L48M|GPRC5B_ENST00000569847.1_Missense_Mutation_p.L48M|GPRC5B_ENST00000535671.1_Missense_Mutation_p.L48M	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	48					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGGTCGCACAGGGACACGTAC	0.652																																																	0													48.0	50.0	49.0					16																	19884026		2197	4300	6497	SO:0001583	missense	0			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.142C>A	16.37:g.19884026G>T	ENSP00000300571:p.Leu48Met		D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.L74M	ENST00000300571.2	37	c.220	CCDS10581.1	16	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157864	0.78114	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.36878	1.26;1.25;1.23	5.8	4.85	0.62838	.	0.000000	0.64402	D	0.000002	T	0.62429	0.2427	M	0.84219	2.685	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.83275	0.98;0.996	T	0.67094	-0.5757	9	.	.	.	.	13.8239	0.63340	0.073:0.0:0.927:0.0	.	74;48	B7Z831;Q9NZH0	.;GPC5B_HUMAN	M	48;48;48;74	ENSP00000300571:L48M;ENSP00000442858:L48M;ENSP00000441775:L74M	.	L	-	1	2	GPRC5B	19791527	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.675000	0.68123	1.473000	0.48159	0.655000	0.94253	CTG	GPRC5B	-	NULL	ENSG00000167191		0.652	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5B	HGNC	protein_coding	OTTHUMT00000254285.1	-	0.00	60	0	G			19884026	-1	tier1	-	no_errors	ENST00000537135	ensembl	human	known	74_37	missense	51.16	21	22	SNP	1.000	T
GPX5	2880	genome.wustl.edu	37	6	28502011	28502011	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:28502011delA	ENST00000412168.2	+	0	822				GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)						lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCACCCCTCCAAAAAAAAGGA	0.493																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.*67A>-	6.37:g.28502011delA			A1A4Y0	RNA	DEL	-	NULL	ENST00000412168.2	37	NULL	CCDS4652.1	6																																																																																			GPX5	-	-	ENSG00000224586		0.493	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX5	HGNC	protein_coding	OTTHUMT00000043672.2		0.00	13	0	A			28502011	+1	tier1		no_errors	ENST00000442674	ensembl	human	known	74_37	rna	55.56	4	5	DEL	0.000	-
GPRC6A	222545	genome.wustl.edu	37	6	117113925	117113925	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:117113925G>T	ENST00000310357.3	-	6	2182	c.2161C>A	c.(2161-2163)Ctc>Atc	p.L721I	GPRC6A_ENST00000368549.3_Missense_Mutation_p.L650I|GPRC6A_ENST00000530250.1_Missense_Mutation_p.L546I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	721					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATTAGCCAGAGTGTGCAAATG	0.463																																																	0													81.0	75.0	77.0					6																	117113925		2203	4300	6503	SO:0001583	missense	0			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2161C>A	6.37:g.117113925G>T	ENSP00000309493:p.Leu721Ile		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2	p.L721I	ENST00000310357.3	37	c.2161	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.420407	0.00188	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.87412	-2.25;-2.25;-2.25	4.37	1.23	0.21249	GPCR, family 3, C-terminal (2);	0.596488	0.14913	N	0.291092	T	0.38612	0.1047	N	0.05441	-0.05	0.09310	N	1	B;B;B	0.30482	0.0;0.281;0.006	B;B;B	0.26517	0.007;0.07;0.02	T	0.51505	-0.8697	10	0.02654	T	1	.	0.9756	0.01425	0.1951:0.1311:0.2561:0.4176	.	650;546;721	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	I	721;650;546	ENSP00000309493:L721I;ENSP00000357537:L650I;ENSP00000433465:L546I	ENSP00000309493:L721I	L	-	1	0	GPRC6A	117220618	0.000000	0.05858	0.318000	0.25279	0.316000	0.28119	-0.102000	0.10956	0.468000	0.27243	0.591000	0.81541	CTC	GPRC6A	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000173612		0.463	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	HGNC	protein_coding	OTTHUMT00000041966.2	-	0.00	46	0	G			117113925	-1	tier1	-	no_errors	ENST00000310357	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.000	T
GRB14	2888	genome.wustl.edu	37	2	165365288	165365288	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:165365288delT	ENST00000263915.3	-	7	1429	c.891delA	c.(889-891)aaafs	p.K297fs	GRB14_ENST00000543549.1_Frame_Shift_Del_p.K210fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	297	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.K297fs*23(2)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GTGCTCCATGTTTTTTTTTGC	0.373																																																	2	Deletion - Frameshift(2)	ovary(1)|breast(1)											111.0	115.0	114.0					2																	165365288		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.891delA	2.37:g.165365288delT	ENSP00000263915:p.Lys297fs		B7Z7F9|Q7Z6I1	Frame_Shift_Del	DEL	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.K297fs	ENST00000263915.3	37	c.891	CCDS2222.1	2																																																																																			GRB14	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000115290		0.373	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	HGNC	protein_coding	OTTHUMT00000255180.2		0.00	41	0	T			165365288	-1	tier1		no_errors	ENST00000263915	ensembl	human	known	74_37	frame_shift_del	36.36	28	16	DEL	0.015	-
GREB1	9687	genome.wustl.edu	37	2	11758984	11758984	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:11758984G>A	ENST00000381486.2	+	22	4283	c.3983G>A	c.(3982-3984)cGg>cAg	p.R1328Q	GREB1_ENST00000396123.1_Missense_Mutation_p.R326Q|GREB1_ENST00000234142.5_Missense_Mutation_p.R1328Q	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1328						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TACGGCAACCGGGCCGAGGGC	0.701																																					Ovarian(39;850 945 2785 23371 33093)												0													11.0	13.0	13.0					2																	11758984		1989	4130	6119	SO:0001583	missense	0				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3983G>A	2.37:g.11758984G>A	ENSP00000370896:p.Arg1328Gln		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.R1328Q	ENST00000381486.2	37	c.3983	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	G	16.18	3.049936	0.55218	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.24908	3.15;3.15;1.83	4.78	3.9	0.45041	.	0.062078	0.64402	D	0.000004	T	0.14184	0.0343	N	0.25789	0.76	0.44275	D	0.997131	P	0.36378	0.55	B	0.34346	0.18	T	0.07385	-1.0775	10	0.11485	T	0.65	-21.9796	8.1469	0.31117	0.0808:0.0:0.7635:0.1557	.	1328	Q4ZG55	GREB1_HUMAN	Q	1328;1328;326	ENSP00000370896:R1328Q;ENSP00000234142:R1328Q;ENSP00000379429:R326Q	ENSP00000234142:R1328Q	R	+	2	0	GREB1	11676435	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	3.432000	0.52824	1.005000	0.39183	0.551000	0.68910	CGG	GREB1	-	NULL	ENSG00000196208		0.701	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1		0.00	29	0	G	NM_014668		11758984	+1			no_errors	ENST00000234142	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.957	A
GREB1L	80000	genome.wustl.edu	37	18	19034430	19034430	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:19034430G>T	ENST00000580732.2	+	15	2469	c.2088G>T	c.(2086-2088)ctG>ctT	p.L696L	GREB1L_ENST00000424526.1_Silent_p.L696L|GREB1L_ENST00000431264.1_Silent_p.L696L|GREB1L_ENST00000269218.6_Silent_p.L587L|GREB1L_ENST00000578368.1_3'UTR|GREB1L_ENST00000400483.4_Silent_p.L696L			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	696						integral component of membrane (GO:0016021)				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						GCCAGAGCCTGGACCTCGGTC	0.473																																																	0													81.0	72.0	74.0					18																	19034430		692	1591	2283	SO:0001819	synonymous_variant	0			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.2088G>T	18.37:g.19034430G>T			A4QN17|Q9H8F1	Silent	SNP	superfamily_P-loop_NTPase	p.L696	ENST00000580732.2	37	c.2088	CCDS45836.1	18																																																																																			GREB1L	-	NULL	ENSG00000141449		0.473	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	GREB1L	HGNC	protein_coding	OTTHUMT00000443782.2	-	0.00	54	0	G	NM_024935		19034430	+1	tier1	-	no_errors	ENST00000424526	ensembl	human	known	74_37	silent	10.42	43	5	SNP	1.000	T
GRIA4	2893	genome.wustl.edu	37	11	105850924	105850924	+	3'UTR	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:105850924A>G	ENST00000530497.1	+	0	3167				GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000282499.5_3'UTR|GRIA4_ENST00000393127.2_3'UTR			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AAGAAAATCCAGCTGAGAAAA	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.*458A>G	11.37:g.105850924A>G			Q86XE8	RNA	SNP	-	NULL	ENST00000530497.1	37	NULL	CCDS8333.1	11																																																																																			GRIA4	-	-	ENSG00000152578		0.363	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	-	0.00	31	0	A			105850924	+1	tier1	-	no_errors	ENST00000533094	ensembl	human	putative	74_37	rna	39.02	25	16	SNP	1.000	G
GRID1	2894	genome.wustl.edu	37	10	87361805	87361805	+	3'UTR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:87361805C>T	ENST00000327946.7	-	0	3340				GRID1_ENST00000536331.1_3'UTR|GRID1_ENST00000552278.2_5'UTR	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1						ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GTCATTCATACAGTTTTTGTG	0.338										Multiple Myeloma(13;0.14)																																							0																																										SO:0001624	3_prime_UTR_variant	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.*225G>A	10.37:g.87361805C>T			B3KXD5|B7Z7L0|Q8IXT3	RNA	SNP	-	NULL	ENST00000327946.7	37	NULL	CCDS31236.1	10																																																																																			GRID1	-	-	ENSG00000182771		0.338	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	-	0.00	49	0	C	XM_043613		87361805	-1	tier1	-	no_errors	ENST00000552278	ensembl	human	known	74_37	rna	37.50	40	24	SNP	1.000	T
GRID2	2895	genome.wustl.edu	37	4	93225753	93225754	+	5'UTR	DEL	AA	AA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:93225753_93225754delAA	ENST00000282020.4	+	0	204_205				RP11-9B6.1_ENST00000504213.1_5'Flank|GRID2_ENST00000510992.1_5'Flank|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2						cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GGACTGTTTGAAAAAAAAAAAA	0.426																																																	0										103,10,355,3798		0,0,2,101,4,0,2,0,353,1671						-3.7	0.0			93	172,13,456,7613		0,0,0,172,4,1,4,1,453,3492	no	utr-5	GRID2	NM_001510.2		0,0,2,273,8,1,6,1,806,5163	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		7.7659,10.9705,8.8578				275,23,811,11411				SO:0001623	5_prime_UTR_variant	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.-54AA>-	4.37:g.93225763_93225764delAA			E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	RNA	DEL	-	NULL	ENST00000282020.4	37	NULL	CCDS3637.1	4																																																																																			GRID2	-	-	ENSG00000152208		0.426	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2		0.00	43	0	AA			93225754	+1	tier1		no_errors	ENST00000505687	ensembl	human	known	74_37	rna	53.85	18	21	DEL	0.000:0.000	-
GRID2IP	392862	genome.wustl.edu	37	7	6550665	6550665	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:6550665G>T	ENST00000457091.2	-	9	1428	c.1429C>A	c.(1429-1431)Ccg>Acg	p.P477T	GRID2IP_ENST00000435185.1_Missense_Mutation_p.P293T|GRID2IP_ENST00000452113.1_Missense_Mutation_p.P286T	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	477					long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						TCAGGCTCCGGCTCTGCTGTG	0.677																																																	0													9.0	13.0	12.0					7																	6550665		692	1590	2282	SO:0001583	missense	0				CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.1429C>A	7.37:g.6550665G>T	ENSP00000397351:p.Pro477Thr			Missense_Mutation	SNP	pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ	p.P477T	ENST00000457091.2	37	c.1429	CCDS47537.1	7	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692287	0.68271	.	.	ENSG00000215045	ENST00000452113;ENST00000435185;ENST00000457091	T;T;T	0.39056	1.1;1.1;1.13	4.39	1.35	0.21983	.	0.301682	0.25063	U	0.033435	T	0.25717	0.0626	L	0.34521	1.04	0.09310	N	0.999999	B	0.10296	0.003	B	0.09377	0.004	T	0.18808	-1.0325	10	0.72032	D	0.01	.	2.6463	0.04985	0.2608:0.0:0.5116:0.2276	.	477	A4D2P6	GRD2I_HUMAN	T	286;293;477	ENSP00000397887:P286T;ENSP00000408364:P293T;ENSP00000397351:P477T	ENSP00000408364:P293T	P	-	1	0	GRID2IP	6517190	0.954000	0.32549	0.490000	0.27465	0.760000	0.43138	1.804000	0.38873	0.462000	0.27095	0.462000	0.41574	CCG	GRID2IP	-	NULL	ENSG00000215045		0.677	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	GRID2IP	HGNC	protein_coding	OTTHUMT00000340534.1	-	0.00	77	0	G	XM_294249		6550665	-1	tier1	-	no_errors	ENST00000457091	ensembl	human	putative	74_37	missense	10.87	41	5	SNP	0.193	T
GRIK2	2898	genome.wustl.edu	37	6	102503432	102503432	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:102503432delA	ENST00000421544.1	+	15	3029	c.2539delA	c.(2539-2541)aaafs	p.K848fs	GRIK2_ENST00000369138.1_Frame_Shift_Del_p.K848fs|GRIK2_ENST00000369137.3_Frame_Shift_Del_p.K772fs|GRIK2_ENST00000369134.4_Frame_Shift_Del_p.K799fs|GRIK2_ENST00000318991.6_Frame_Shift_Del_p.K848fs|GRIK2_ENST00000413795.1_Frame_Shift_Del_p.K848fs	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	848					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.N849fs*12(1)|p.N849fs*14(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ATACAAATCCAAAAAAAACGC	0.348																																																	2	Deletion - Frameshift(2)	lung(2)											77.0	88.0	84.0					6																	102503432		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2539delA	6.37:g.102503432delA	ENSP00000397026:p.Lys848fs		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Frame_Shift_Del	DEL	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.N849fs	ENST00000421544.1	37	c.2539	CCDS5048.1	6																																																																																			GRIK2	-	NULL	ENSG00000164418		0.348	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1		0.00	20	0	A			102503432	+1	tier1		no_errors	ENST00000421544	ensembl	human	known	74_37	frame_shift_del	70.59	5	12	DEL	1.000	-
GRIK3	2899	genome.wustl.edu	37	1	37315825	37315825	+	Intron	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:37315825delG	ENST00000373091.3	-	9	1343				GRIK3_ENST00000373093.4_Intron|GRIK3_ENST00000462621.1_Intron	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TCTTCTGGGTGGGGGGGATAG	0.637																																																	0																																										SO:0001627	intron_variant	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1326+86C>-	1.37:g.37315825delG			A9Z1Z8|B1AMS6|Q13004|Q16136	RNA	DEL	-	NULL	ENST00000373091.3	37	NULL	CCDS416.1	1																																																																																			GRIK3	-	-	ENSG00000163873		0.637	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1		0.00	20	0	G	NM_000831		37315825	-1	tier1		no_errors	ENST00000479620	ensembl	human	known	74_37	rna	35.71	9	5	DEL	0.000	-
GRIK3	2899	genome.wustl.edu	37	1	37316015	37316015	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:37316015C>A	ENST00000373091.3	-	9	1239	c.1223G>T	c.(1222-1224)tGg>tTg	p.W408L	GRIK3_ENST00000373093.4_Missense_Mutation_p.W408L|GRIK3_ENST00000462621.1_5'UTR	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	408					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GGCAGGACTCCACACCCCAAC	0.532																																																	0													95.0	88.0	90.0					1																	37316015		2203	4300	6503	SO:0001583	missense	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1223G>T	1.37:g.37316015C>A	ENSP00000362183:p.Trp408Leu		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.W408L	ENST00000373091.3	37	c.1223	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743854	0.89663	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.32515	1.45;1.45	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.68504	0.3008	H	0.95187	3.635	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68765	0.96;0.96	T	0.79512	-0.1773	10	0.87932	D	0	.	19.0516	0.93049	0.0:1.0:0.0:0.0	.	408;408	A9Z1Z8;Q13003	.;GRIK3_HUMAN	L	408	ENSP00000362183:W408L;ENSP00000362185:W408L	ENSP00000362183:W408L	W	-	2	0	GRIK3	37088602	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.487000	0.81328	2.501000	0.84356	0.555000	0.69702	TGG	GRIK3	-	superfamily_Peripla_BP_I	ENSG00000163873		0.532	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	-	0.00	76	0	C	NM_000831		37316015	-1	tier1	-	no_errors	ENST00000373091	ensembl	human	known	74_37	missense	40.00	29	20	SNP	1.000	A
GRIK3	2899	genome.wustl.edu	37	1	37319265	37319265	+	Missense_Mutation	SNP	G	G	A	rs142974275	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:37319265G>A	ENST00000373091.3	-	8	1179	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	GRIK3_ENST00000373093.4_Missense_Mutation_p.T388M|GRIK3_ENST00000462621.1_5'UTR	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	388					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				ATCAAAATCCGTCCGCAAGCC	0.547																																																	0								G	MET/THR	0,4406		0,0,2203	74.0	72.0	72.0		1163	4.2	0.8	1	dbSNP_134	72	3,8597	2.2+/-6.3	0,3,4297	yes	missense	GRIK3	NM_000831.3	81	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	388/920	37319265	3,13003	2203	4300	6503	SO:0001583	missense	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1163C>T	1.37:g.37319265G>A	ENSP00000362183:p.Thr388Met		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T388M	ENST00000373091.3	37	c.1163	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344884	0.61073	0.0	3.49E-4	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.83075	-1.68;-1.68	5.13	4.22	0.49857	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	L	0.59436	1.845	0.46701	D	0.999167	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.917	D	0.88401	0.3015	10	0.56958	D	0.05	.	13.872	0.63624	0.0741:0.0:0.9259:0.0	.	388;388	A9Z1Z8;Q13003	.;GRIK3_HUMAN	M	388	ENSP00000362183:T388M;ENSP00000362185:T388M	ENSP00000362183:T388M	T	-	2	0	GRIK3	37091852	1.000000	0.71417	0.790000	0.31976	0.980000	0.70556	5.425000	0.66470	1.162000	0.42619	0.563000	0.77884	ACG	GRIK3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000163873		0.547	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	-	0.00	62	0	G	NM_000831		37319265	-1	tier1	rs142974275	no_errors	ENST00000373091	ensembl	human	known	74_37	missense	39.58	29	19	SNP	0.989	A
GRIK3	2899	genome.wustl.edu	37	1	37324816	37324816	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:37324816C>T	ENST00000373091.3	-	7	1013	c.997G>A	c.(997-999)Gtg>Atg	p.V333M	GRIK3_ENST00000373093.4_Missense_Mutation_p.V333M|GRIK3_ENST00000462621.1_5'Flank	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	333					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.V333L(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CACACGGACACGATATGGACG	0.632																																																	1	Substitution - Missense(1)	lung(1)											140.0	120.0	127.0					1																	37324816		2203	4300	6503	SO:0001583	missense	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.997G>A	1.37:g.37324816C>T	ENSP00000362183:p.Val333Met		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V333M	ENST00000373091.3	37	c.997	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.091422	0.94149	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.82619	-1.63;-1.63	5.68	5.68	0.88126	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90116	0.6912	M	0.72894	2.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70487	0.969;0.955	D	0.86724	0.1944	10	0.22109	T	0.4	.	19.7849	0.96432	0.0:1.0:0.0:0.0	.	333;333	A9Z1Z8;Q13003	.;GRIK3_HUMAN	M	333	ENSP00000362183:V333M;ENSP00000362185:V333M	ENSP00000362183:V333M	V	-	1	0	GRIK3	37097403	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.482000	0.81143	2.671000	0.90904	0.650000	0.86243	GTG	GRIK3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000163873		0.632	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1		0.00	31	0	C	NM_000831		37324816	-1			no_errors	ENST00000373091	ensembl	human	known	74_37	missense	8.00	23	2	SNP	1.000	T
GRIN2A	2903	genome.wustl.edu	37	16	9857619	9857619	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:9857619G>A	ENST00000396573.2	-	14	4091	c.3782C>T	c.(3781-3783)gCc>gTc	p.A1261V	GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A1261V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A1261V|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000535259.1_Intron	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1261					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTCCCCGGTGGCTGGGTTACC	0.527																																																	0													105.0	95.0	98.0					16																	9857619		2197	4300	6497	SO:0001583	missense	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3782C>T	16.37:g.9857619G>A	ENSP00000379818:p.Ala1261Val		O00669|Q17RZ6	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A1261V	ENST00000396573.2	37	c.3782	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723664	0.30593	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.11712	2.75;2.75;2.75	5.11	4.14	0.48551	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.645793	0.17726	N	0.164055	T	0.13586	0.0329	L	0.58101	1.795	0.26009	N	0.982019	B	0.31125	0.309	B	0.37550	0.253	T	0.14896	-1.0456	9	.	.	.	.	7.85	0.29448	0.0808:0.0:0.7574:0.1618	.	1261	Q12879	NMDE1_HUMAN	V	1261	ENSP00000379818:A1261V;ENSP00000332549:A1261V;ENSP00000379820:A1261V	.	A	-	2	0	GRIN2A	9765120	0.051000	0.20477	0.136000	0.22124	0.997000	0.91878	1.981000	0.40628	1.131000	0.42111	0.655000	0.94253	GCC	GRIN2A	-	pfam_NMDAR2_C	ENSG00000183454		0.527	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	-	0.00	110	0	G			9857619	-1	tier1	-	no_errors	ENST00000330684	ensembl	human	known	74_37	missense	32.18	59	28	SNP	0.031	A
GRIN2B	2904	genome.wustl.edu	37	12	14019063	14019063	+	Missense_Mutation	SNP	C	C	T	rs200727145		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:14019063C>T	ENST00000609686.1	-	2	289	c.80G>A	c.(79-81)cGt>cAt	p.R27H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	27					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTTCTGAGAACGAGCTCTGCT	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18901	0.0		0.0	False		,,,				2504	0.0																0													48.0	52.0	51.0					12																	14019063		2203	4300	6503	SO:0001583	missense	0				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.80G>A	12.37:g.14019063C>T	ENSP00000477455:p.Arg27His		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R27H	ENST00000609686.1	37	c.80	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710101	0.30322	.	.	ENSG00000150086	ENST00000279593	T	0.12039	2.72	5.7	5.7	0.88788	.	0.136393	0.52532	D	0.000072	T	0.06962	0.0177	N	0.08118	0	0.19775	N	0.999958	B	0.02656	0.0	B	0.01281	0.0	T	0.36261	-0.9755	10	0.14252	T	0.57	.	11.7587	0.51890	0.0:0.9128:0.0:0.0872	.	27	Q13224	NMDE2_HUMAN	H	27	ENSP00000279593:R27H	ENSP00000279593:R27H	R	-	2	0	GRIN2B	13910330	0.935000	0.31712	0.935000	0.37517	0.996000	0.88848	1.654000	0.37334	2.680000	0.91292	0.563000	0.77884	CGT	GRIN2B	-	NULL	ENSG00000273079		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	-	0.00	15	0	C			14019063	-1	tier1	rs200727145	no_errors	ENST00000609686	ensembl	human	known	74_37	missense	81.25	3	13	SNP	0.256	T
GRK5	2869	genome.wustl.edu	37	10	121189930	121189930	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:121189930G>T	ENST00000392870.2	+	7	906	c.577G>T	c.(577-579)Gga>Tga	p.G193*	GRK5_ENST00000369108.3_Nonsense_Mutation_p.G88*	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	193	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCGAGTGCTAGGAAAAGGGGG	0.458																																																	0													142.0	142.0	142.0					10																	121189930		2203	4300	6503	SO:0001587	stop_gained	0			L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.577G>T	10.37:g.121189930G>T	ENSP00000376609:p.Gly193*		D3DRD0|Q5T059	Nonsense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.G193*	ENST00000392870.2	37	c.577	CCDS7612.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.493582	0.98319	.	.	ENSG00000198873	ENST00000392870;ENST00000457057;ENST00000369108	.	.	.	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.8221	18.8439	0.92196	0.0:0.0:1.0:0.0	.	.	.	.	X	193;88;88	.	ENSP00000358104:G88X	G	+	1	0	GRK5	121179920	1.000000	0.71417	0.869000	0.34112	0.953000	0.61014	9.835000	0.99442	2.443000	0.82685	0.563000	0.77884	GGA	GRK5	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000198873		0.458	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK5	HGNC	protein_coding	OTTHUMT00000050652.2		0.00	96	0	G	NM_005308		121189930	+1			no_errors	ENST00000392870	ensembl	human	known	74_37	nonsense	5.48	69	4	SNP	1.000	T
GRM4	2914	genome.wustl.edu	37	6	34003759	34003759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:34003759G>A	ENST00000538487.2	-	9	2571	c.2128C>T	c.(2128-2130)Cag>Tag	p.Q710*	GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374177.3_Nonsense_Mutation_p.Q594*|GRM4_ENST00000544773.2_Nonsense_Mutation_p.Q541*|GRM4_ENST00000535756.1_Nonsense_Mutation_p.Q577*|GRM4_ENST00000609222.1_Nonsense_Mutation_p.Q577*|GRM4_ENST00000455714.2_Nonsense_Mutation_p.Q570*|GRM4_ENST00000374181.4_Nonsense_Mutation_p.Q710*	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	710					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCCAGCAGCTGCAGCGAGATG	0.642																																																	0													94.0	102.0	99.0					6																	34003759		2203	4300	6503	SO:0001587	stop_gained	0			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2128C>T	6.37:g.34003759G>A	ENSP00000440556:p.Gln710*		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Nonsense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B	p.Q710*	ENST00000538487.2	37	c.2128	CCDS4787.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.559416	0.97663	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.3481	0.87315	0.0:0.0:1.0:0.0	.	.	.	.	X	710;594;402;577;541;710;570	.	ENSP00000363292:Q594X	Q	-	1	0	GRM4	34111737	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.565000	0.98154	2.307000	0.77673	0.462000	0.41574	CAG	GRM4	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3	ENSG00000124493		0.642	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	HGNC	protein_coding	OTTHUMT00000040213.2	-	0.00	35	0	G			34003759	-1	tier1	-	no_errors	ENST00000374181	ensembl	human	known	74_37	nonsense	43.75	27	21	SNP	1.000	A
GRM1	2911	genome.wustl.edu	37	6	146351349	146351349	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:146351349G>A	ENST00000282753.1	+	1	931	c.696G>A	c.(694-696)acG>acA	p.T232T	GRM1_ENST00000361719.2_Silent_p.T232T|GRM1_ENST00000492807.2_Silent_p.T232T|GRM1_ENST00000507907.1_Silent_p.T232T|GRM1_ENST00000392299.2_Silent_p.T232T|GRM1_ENST00000355289.4_Silent_p.T232T			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	232					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CAGTCCACACGGAAGGTAGGC	0.453																																																	0													49.0	50.0	50.0					6																	146351349		2202	4300	6502	SO:0001819	synonymous_variant	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.696G>A	6.37:g.146351349G>A			B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.T232	ENST00000282753.1	37	c.696	CCDS5209.1	6																																																																																			GRM1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000152822		0.453	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0.00	28	0	G	NM_000838		146351349	+1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	silent	64.00	9	16	SNP	0.019	A
GRN	2896	genome.wustl.edu	37	17	42428095	42428095	+	Missense_Mutation	SNP	G	G	A	rs63750787	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:42428095G>A	ENST00000053867.3	+	7	697	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	GRN_ENST00000589265.1_Intron	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	212					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCGGACGCACGGTCCCGGTGC	0.602											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G	GLN/ARG	0,4406		0,0,2203	113.0	90.0	98.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	635	-6.6	0.0	17	dbSNP_130	98	5,8595	4.3+/-15.6	0,5,4295	yes	missense	GRN	NM_002087.2	43	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	benign	212/594	42428095	5,13001	2203	4300	6503	SO:0001583	missense	0			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.635G>A	17.37:g.42428095G>A	ENSP00000053867:p.Arg212Gln	908	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	pfam_Granulin,smart_Granulin	p.R212Q	ENST00000053867.3	37	c.635	CCDS11483.1	17	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032023	0.35893	0.0	5.81E-4	ENSG00000030582	ENST00000053867;ENST00000357351	T	0.69926	-0.44	5.12	-6.62	0.01813	Granulin (1);	1.275610	0.05326	N	0.527529	T	0.48003	0.1476	L	0.31294	0.92	0.09310	N	0.999991	B;B	0.19935	0.033;0.04	B;B	0.12156	0.002;0.007	T	0.35475	-0.9787	10	0.13108	T	0.6	-4.6638	10.4168	0.44327	0.6856:0.108:0.2064:0.0	rs63750787	149;212	B4DJI2;P28799	.;GRN_HUMAN	Q	212	ENSP00000053867:R212Q	ENSP00000053867:R212Q	R	+	2	0	GRN	39783621	0.000000	0.05858	0.001000	0.08648	0.598000	0.36846	-1.597000	0.02089	-1.418000	0.02014	0.462000	0.41574	CGG	GRN	-	smart_Granulin	ENSG00000030582		0.602	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRN	HGNC	protein_coding	OTTHUMT00000457766.1	-	0.00	56	0	G	NM_002087		42428095	+1	tier1	rs63750787	no_errors	ENST00000053867	ensembl	human	known	74_37	missense	10.17	53	6	SNP	0.000	A
GTF2F2	2963	genome.wustl.edu	37	13	45781549	45781550	+	Intron	DEL	TC	TC	-	rs372643018|rs376822771		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:45781549_45781550delTC	ENST00000340473.6	+	5	445				GTF2F2_ENST00000494087.1_3'UTR	NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa						7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		CTTTTTTTTTTCCATTCAAGAT	0.322																																																	0																																										SO:0001627	intron_variant	0			X16901	CCDS9395.1	13q14	2012-01-23	2002-08-29		ENSG00000188342	ENSG00000188342		"""General transcription factors"""	4653	protein-coding gene	gene with protein product		189969	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			8162052	Standard	NM_004128		Approved	TFIIF, BTF4, RAP30	uc001uzw.3	P13984	OTTHUMG00000016849	ENST00000340473.6:c.305-9TC>-	13.37:g.45781549_45781550delTC			A6NNS5|Q5W0H3	RNA	DEL	-	NULL	ENST00000340473.6	37	NULL	CCDS9395.1	13																																																																																			GTF2F2	-	-	ENSG00000188342		0.322	GTF2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2F2	HGNC	protein_coding	OTTHUMT00000044767.2		0.00	62	0	TC	NM_004128		45781550	+1	tier1		no_errors	ENST00000494087	ensembl	human	known	74_37	rna	24.71	64	21	DEL	0.825:0.930	-
GTF2IRD1	9569	genome.wustl.edu	37	7	73961439	73961439	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:73961439C>A	ENST00000265755.3	+	17	2132	c.1739C>A	c.(1738-1740)gCc>gAc	p.A580D	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.A580D|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.A612D|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.A580D	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	580					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCAGCCAAGGCCATTGGCATC	0.642																																																	0													84.0	78.0	80.0					7																	73961439		2203	4300	6503	SO:0001583	missense	0			AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.1739C>A	7.37:g.73961439C>A	ENSP00000265755:p.Ala580Asp		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.A580D	ENST00000265755.3	37	c.1739	CCDS5571.1	7	.	.	.	.	.	.	.	.	.	.	C	29.3	4.995432	0.93167	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	4.85	4.85	0.62838	.	0.125205	0.52532	D	0.000071	T	0.81721	0.4882	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.89917	1.0;0.996;0.998;0.995	D;D;D;D	0.91635	0.999;0.949;0.979;0.972	D	0.84527	0.0631	10	0.87932	D	0	-7.129	16.9588	0.86267	0.0:1.0:0.0:0.0	.	612;580;580;580	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	D	580;612;580;580	ENSP00000265755:A580D;ENSP00000397566:A612D;ENSP00000408477:A580D;ENSP00000418383:A580D	ENSP00000265755:A580D	A	+	2	0	GTF2IRD1	73599375	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.213000	0.77950	2.231000	0.72958	0.555000	0.69702	GCC	GTF2IRD1	-	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	ENSG00000006704		0.642	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2IRD1	HGNC	protein_coding	OTTHUMT00000252654.2	-	0.00	65	0	C	NM_016328		73961439	+1	tier1	-	no_errors	ENST00000265755	ensembl	human	known	74_37	missense	34.43	40	21	SNP	1.000	A
GTF3C2	2976	genome.wustl.edu	37	2	27551017	27551017	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:27551017G>T	ENST00000359541.2	-	17	2725	c.2296C>A	c.(2296-2298)Cct>Act	p.P766T	GTF3C2_ENST00000264720.3_Missense_Mutation_p.P766T|MPV17_ENST00000357186.6_5'Flank			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	766					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACCTTCAGGACTGTCCTGA	0.433																																																	0													88.0	84.0	86.0					2																	27551017		2203	4300	6503	SO:0001583	missense	0			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2296C>A	2.37:g.27551017G>T	ENSP00000352536:p.Pro766Thr		D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P766T	ENST00000359541.2	37	c.2296	CCDS1749.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.63|10.63	1.404938|1.404938	0.25378|0.25378	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000359541;ENST00000264720|ENST00000457098	T;T|.	0.72051|.	-0.62;-0.62|.	5.15|5.15	1.88|1.88	0.25563|0.25563	WD40 repeat-like-containing domain (1);|.	0.709055|.	0.14313|.	N|.	0.327598|.	T|T	0.25531|0.25531	0.0621|0.0621	N|N	0.19112|0.19112	0.55|0.55	0.24927|0.24927	N|N	0.991945|0.991945	B|.	0.26318|.	0.146|.	B|.	0.22152|.	0.038|.	T|T	0.20605|0.20605	-1.0270|-1.0270	10|6	0.10902|0.45353	T|T	0.67|0.12	-4.9876|-4.9876	7.6305|7.6305	0.28236|0.28236	0.3171:0.0:0.6829:0.0|0.3171:0.0:0.6829:0.0	.|.	766|.	Q8WUA4|.	TF3C2_HUMAN|.	T|Y	766|59	ENSP00000352536:P766T;ENSP00000264720:P766T|.	ENSP00000264720:P766T|ENSP00000409043:S59Y	P|S	-|-	1|2	0|0	GTF3C2|GTF3C2	27404521|27404521	0.906000|0.906000	0.30813|0.30813	0.930000|0.930000	0.37139|0.37139	0.978000|0.978000	0.69477|0.69477	0.861000|0.861000	0.27885|0.27885	0.571000|0.571000	0.29365|0.29365	-0.145000|-0.145000	0.13849|0.13849	CCT|TCC	GTF3C2	-	superfamily_WD40_repeat_dom	ENSG00000115207		0.433	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	-	0.00	44	0	G			27551017	-1	tier1	-	no_errors	ENST00000264720	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.313	T
GTPBP2	54676	genome.wustl.edu	37	6	43588291	43588292	+	3'UTR	DEL	TA	TA	-	rs371318073|rs75208735	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:43588291_43588292delTA	ENST00000307126.5	-	0	2867_2868				GTPBP2_ENST00000476510.1_5'UTR	NM_019096.3	NP_061969.3			GTP binding protein 2											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			tatacatatgtatatatatata	0.351																																					GBM(116;405 1620 28302 32150 44768)												0																																										SO:0001624	3_prime_UTR_variant	0			AB024574	CCDS4903.1, CCDS69124.1	6p21	2008-07-28			ENSG00000172432	ENSG00000172432			4670	protein-coding gene	gene with protein product		607434				10833435, 11054535	Standard	NM_019096		Approved		uc003ovs.3	Q9BX10	OTTHUMG00000014744	ENST00000307126.5:c.*1060TA>-	6.37:g.43588301_43588302delTA				RNA	DEL	-	NULL	ENST00000307126.5	37	NULL	CCDS4903.1	6																																																																																			GTPBP2	-	-	ENSG00000172432		0.351	GTPBP2-011	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP2	HGNC	protein_coding	OTTHUMT00000040679.1		0.00	11	0	TA			43588292	-1	tier1		no_errors	ENST00000476510	ensembl	human	known	74_37	rna	63.64	4	7	DEL	0.001:0.000	-
GUCY1A3	2982	genome.wustl.edu	37	4	156632032	156632032	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:156632032T>C	ENST00000296518.7	+	6	924	c.715T>C	c.(715-717)Tgc>Cgc	p.C239R	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.C239R|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.C239R|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.C239R|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.C239R|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.C239R|GUCY1A3_ENST00000393832.3_5'UTR			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	239					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AATGCCTCCCTGCTTCCATAA	0.493																																																	0													124.0	117.0	119.0					4																	156632032		2203	4300	6503	SO:0001583	missense	0				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.715T>C	4.37:g.156632032T>C	ENSP00000296518:p.Cys239Arg		D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.C239R	ENST00000296518.7	37	c.715	CCDS34085.1	4	.	.	.	.	.	.	.	.	.	.	T	4.723	0.134489	0.09032	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11	5.64	3.23	0.37069	.	0.332209	0.30269	N	0.010013	T	0.32224	0.0822	L	0.48362	1.52	0.53688	D	0.999978	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.07673	-1.0760	10	0.15952	T	0.53	.	10.0453	0.42184	0.0:0.1364:0.0:0.8636	rs34483890	239;239;239	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	R	239	ENSP00000424361:C239R;ENSP00000421493:C239R;ENSP00000426968:C239R;ENSP00000412201:C239R;ENSP00000296518:C239R;ENSP00000426040:C239R	ENSP00000296518:C239R	C	+	1	0	GUCY1A3	156851482	0.993000	0.37304	0.231000	0.23993	0.819000	0.46315	1.974000	0.40559	0.508000	0.28173	0.523000	0.50628	TGC	GUCY1A3	-	superfamily_NO_sig/Golgi_transp_ligand-bd	ENSG00000164116		0.493	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	HGNC	protein_coding	OTTHUMT00000365786.2	-	0.00	31	0	T			156632032	+1	tier1	-	no_errors	ENST00000296518	ensembl	human	known	74_37	missense	37.04	17	10	SNP	0.991	C
GUCY2C	2984	genome.wustl.edu	37	12	14832637	14832637	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:14832637G>A	ENST00000261170.3	-	6	920	c.784C>T	c.(784-786)Cga>Tga	p.R262*	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	262					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	GCCACTGCTCGGTCACCCTTC	0.413																																																	0													153.0	138.0	143.0					12																	14832637		2203	4300	6503	SO:0001587	stop_gained	0				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.784C>T	12.37:g.14832637G>A	ENSP00000261170:p.Arg262*		B2RMY6	Nonsense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.R262*	ENST00000261170.3	37	c.784	CCDS8664.1	12	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633016	0.87660	.	.	ENSG00000070019	ENST00000261170	.	.	.	5.57	2.67	0.31697	.	1.229650	0.05517	N	0.561406	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	6.8423	0.23969	0.3015:0.0:0.6985:0.0	.	.	.	.	X	262	.	ENSP00000261170:R262X	R	-	1	2	GUCY2C	14723904	0.000000	0.05858	0.020000	0.16555	0.050000	0.14768	0.086000	0.14935	0.267000	0.21916	0.650000	0.86243	CGA	GUCY2C	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000070019		0.413	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1	-	0.00	45	0	G			14832637	-1	tier1	-	no_errors	ENST00000261170	ensembl	human	known	74_37	nonsense	25.32	59	20	SNP	0.006	A
GUSBP2	387036	genome.wustl.edu	37	6	26856819	26856819	+	RNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:26856819G>A	ENST00000463434.1	-	0	251									glucuronidase, beta pseudogene 2																		CGGGGTGTTCGTGCATCAGGT	0.572																																																	0																																												0					6p21	2011-06-09	2011-06-09	2011-06-09	ENSG00000241549	ENSG00000241549			18792	pseudogene	pseudogene			"""spinal muscular atrophy candidate gene 3-like 2"", ""glucuronidase, beta-like 1"""	SMAC3L2, GUSBL1			Standard	NR_003504		Approved	bA239L20.5, bA239L20.1, SMA3-L, bGLU-Lp, SMAC3L	uc003nim.2		OTTHUMG00000014462		6.37:g.26856819G>A				RNA	SNP	-	NULL	ENST00000463434.1	37	NULL		6																																																																																			GUSBP2	-	-	ENSG00000241549		0.572	GUSBP2-003	KNOWN	basic	processed_transcript	GUSBP2	HGNC	pseudogene	OTTHUMT00000314060.1	-	0.00	117	0	G			26856819	-1	tier1	-	no_errors	ENST00000463434	ensembl	human	known	74_37	rna	37.86	64	39	SNP	1.000	A
GXYLT1	283464	genome.wustl.edu	37	12	42499672	42499672	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:42499672T>C	ENST00000398675.3	-	5	1044	c.812A>G	c.(811-813)aAc>aGc	p.N271S	GXYLT1_ENST00000280876.6_Missense_Mutation_p.N240S	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	271					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AACTCCAGAGTTTACTCCAGT	0.383																																																	0													80.0	74.0	76.0					12																	42499672		1842	4104	5946	SO:0001583	missense	0			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.812A>G	12.37:g.42499672T>C	ENSP00000381666:p.Asn271Ser		B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.N271S	ENST00000398675.3	37	c.812	CCDS41772.1	12	.	.	.	.	.	.	.	.	.	.	T	27.6	4.850264	0.91277	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.39056	1.1;1.1	6.07	6.07	0.98685	.	0.039606	0.85682	D	0.000000	T	0.70343	0.3213	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75918	-0.3148	10	0.87932	D	0	-17.8753	16.6407	0.85098	0.0:0.0:0.0:1.0	.	240;271	Q4G148-2;Q4G148	.;GXLT1_HUMAN	S	271;240	ENSP00000381666:N271S;ENSP00000280876:N240S	ENSP00000280876:N240S	N	-	2	0	GXYLT1	40785939	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.991000	0.88244	2.326000	0.78906	0.533000	0.62120	AAC	GXYLT1	-	pfam_Glyco_trans_8	ENSG00000151233		0.383	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GXYLT1	HGNC	protein_coding	OTTHUMT00000403778.1	-	0.00	29	0	T	XM_290597		42499672	-1	tier1	-	no_errors	ENST00000398675	ensembl	human	known	74_37	missense	32.14	19	9	SNP	1.000	C
GZF1	64412	genome.wustl.edu	37	20	23347639	23347639	+	Splice_Site	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:23347639G>T	ENST00000338121.5	+	3	1441		c.e3-1		GZF1_ENST00000377051.2_Splice_Site|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_Intron|GZF1_ENST00000544236.1_Splice_Site			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1						branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGTACTTTCAGAATTCATACA	0.363																																																	0													94.0	93.0	93.0					20																	23347639		2203	4300	6503	SO:0001630	splice_region_variant	0			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1365-1G>T	20.37:g.23347639G>T			A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Splice_Site	SNP	-	e2-1	ENST00000338121.5	37	c.1365-1	CCDS13151.1	20	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255084	0.80135	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9233	0.88975	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GZF1	23295639	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.624000	0.98398	2.480000	0.83734	0.650000	0.86243	.	GZF1	-	-	ENSG00000125812		0.363	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GZF1	HGNC	protein_coding	OTTHUMT00000078333.1	-	0.00	31	0	G	NM_022482	Intron	23347639	+1	tier1	-	no_errors	ENST00000338121	ensembl	human	known	74_37	splice_site	13.33	26	4	SNP	1.000	T
GZMK	3003	genome.wustl.edu	37	5	54326289	54326289	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:54326289G>A	ENST00000231009.2	+	3	310	c.240G>A	c.(238-240)gtG>gtA	p.V80V	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000608466.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000608929.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	80	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTCCCACTGTGGTTTTAGGCG	0.433																																																	0													133.0	128.0	130.0					5																	54326289		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.240G>A	5.37:g.54326289G>A			B2R563	Silent	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.V80	ENST00000231009.2	37	c.240	CCDS3964.1	5																																																																																			GZMK	-	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000113088		0.433	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GZMK	HGNC	protein_coding	OTTHUMT00000214098.1	-	0.00	109	0	G	NM_002104		54326289	+1	tier1	-	no_errors	ENST00000231009	ensembl	human	known	74_37	silent	43.61	75	58	SNP	1.000	A
H1FNT	341567	genome.wustl.edu	37	12	48723224	48723224	+	Silent	SNP	G	G	A	rs374688889		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:48723224G>A	ENST00000335017.1	+	1	462	c.150G>A	c.(148-150)tcG>tcA	p.S50S		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	50					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GGGGACCATCGAGGGGCTGCT	0.637																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	45.0	49.0	47.0		150	-1.5	0.0	12		47	0,8600		0,0,4300	no	coding-synonymous	H1FNT	NM_181788.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		50/256	48723224	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.150G>A	12.37:g.48723224G>A			Q147U8|Q5GKZ5|Q7Z694	Silent	SNP	NULL	p.S50	ENST00000335017.1	37	c.150	CCDS8762.1	12																																																																																			H1FNT	-	NULL	ENSG00000187166		0.637	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H1FNT	HGNC	protein_coding	OTTHUMT00000406516.1	-	0.00	30	0	G	NM_181788		48723224	+1	tier1	-	no_errors	ENST00000335017	ensembl	human	known	74_37	silent	52.17	11	12	SNP	0.000	A
H1FX	8971	genome.wustl.edu	37	3	129036981	129036981	+	5'Flank	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:129036981G>A	ENST00000333762.4	-	0	0				H1FX-AS1_ENST00000383461.2_RNA|H1FX-AS1_ENST00000511998.1_RNA|H1FX-AS1_ENST00000537780.1_RNA|H1FX-AS1_ENST00000433902.2_RNA|H1FX-AS1_ENST00000502789.2_RNA	NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X						nucleosome assembly (GO:0006334)	nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			kidney(1)|ovary(1)|urinary_tract(2)	4						TGATCAGGGTGCTCAGGACCA	0.612																																																	0																																										SO:0001631	upstream_gene_variant	0			D64142	CCDS3057.1	3q21.3	2011-08-16			ENSG00000184897	ENSG00000184897		"""Histones / Replication-independent"""	4722	protein-coding gene	gene with protein product		602785				8964515, 9439656	Standard	NM_006026		Approved	MGC15959, MGC8350, H1X	uc003elx.3	Q92522	OTTHUMG00000159450		3.37:g.129036981G>A	Exception_encountered			RNA	SNP	-	NULL	ENST00000333762.4	37	NULL	CCDS3057.1	3																																																																																			H1FX-AS1	-	-	ENSG00000206417		0.612	H1FX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H1FX-AS1	HGNC	protein_coding	OTTHUMT00000355455.2	-	0.00	34	0	G	NM_006026		129036981	+1	tier1	-	no_errors	ENST00000383461	ensembl	human	known	74_37	rna	20.83	19	5	SNP	0.000	A
HAP1	9001	genome.wustl.edu	37	17	39890494	39890494	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:39890494C>T	ENST00000310778.5	-	1	402	c.393G>A	c.(391-393)acG>acA	p.T131T	HAP1_ENST00000347901.4_Silent_p.T131T|HAP1_ENST00000393939.2_Silent_p.T131T|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Silent_p.T131T			P54257	HAP1_HUMAN	huntingtin-associated protein 1	131	HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGGCGGCTGGCGTCTTCCAGA	0.687																																																	0													7.0	11.0	9.0					17																	39890494		2161	4218	6379	SO:0001819	synonymous_variant	0			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.393G>A	17.37:g.39890494C>T			A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Silent	SNP	pfam_HAP1_N	p.T131	ENST00000310778.5	37	c.393		17																																																																																			HAP1	-	pfam_HAP1_N	ENSG00000173805		0.687	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	HGNC	protein_coding	OTTHUMT00000389619.1		0.00	13	0	C	NM_003949		39890494	-1			no_errors	ENST00000310778	ensembl	human	known	74_37	silent	42.86	4	3	SNP	0.000	T
HAPLN4	404037	genome.wustl.edu	37	19	19371676	19371676	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:19371676C>T	ENST00000291481.7	-	3	493	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	144	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	TTGGTGACTTCGCACTCATAG	0.622																																																	0													89.0	77.0	81.0					19																	19371676		2203	4300	6503	SO:0001583	missense	0			AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.430G>A	19.37:g.19371676C>T	ENSP00000291481:p.Glu144Lys		A5PKW5|Q96PW2	Missense_Mutation	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link	p.E144K	ENST00000291481.7	37	c.430	CCDS12398.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.617939	0.96649	.	.	ENSG00000187664	ENST00000291481	T	0.64803	-0.12	4.66	4.66	0.58398	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82614	0.5075	M	0.92026	3.265	0.52099	D	0.999949	D	0.89917	1.0	D	0.80764	0.994	D	0.86811	0.1998	10	0.87932	D	0	-45.4913	15.0686	0.72017	0.0:1.0:0.0:0.0	.	144	Q86UW8	HPLN4_HUMAN	K	144	ENSP00000291481:E144K	ENSP00000291481:E144K	E	-	1	0	HAPLN4	19232676	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.444000	0.60001	2.423000	0.82170	0.561000	0.74099	GAA	HAPLN4	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000187664		0.622	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN4	HGNC	protein_coding	OTTHUMT00000460117.2	-	0.00	60	0	C	NM_023002		19371676	-1	tier1	-	no_errors	ENST00000291481	ensembl	human	known	74_37	missense	45.65	25	21	SNP	1.000	T
HAUS6	54801	genome.wustl.edu	37	9	19058188	19058188	+	Silent	SNP	G	G	A	rs147153475	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:19058188G>A	ENST00000380502.3	-	16	3044	c.2577C>T	c.(2575-2577)ccC>ccT	p.P859P	HAUS6_ENST00000380496.1_Silent_p.P723P	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	859					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTGTCTTTCGGGTGTTTGGG	0.408													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19674	0.0		0.0	False		,,,				2504	0.0																0								G		2,4404	4.2+/-10.8	0,2,2201	191.0	186.0	188.0		2577	4.6	0.8	9	dbSNP_134	188	0,8600		0,0,4300	no	coding-synonymous	HAUS6	NM_017645.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		859/956	19058188	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.2577C>T	9.37:g.19058188G>A			B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Silent	SNP	NULL	p.P859	ENST00000380502.3	37	c.2577	CCDS6489.1	9																																																																																			HAUS6	-	NULL	ENSG00000147874		0.408	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	-	0.00	98	0	G	NM_017645		19058188	-1	tier1	rs147153475	no_errors	ENST00000380502	ensembl	human	known	74_37	silent	31.68	69	32	SNP	0.224	A
HAX1	10456	genome.wustl.edu	37	1	154246356	154246357	+	Frame_Shift_Ins	INS	-	-	G	rs200778148		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:154246356_154246357insG	ENST00000328703.7	+	3	636_637	c.423_424insG	c.(424-426)gggfs	p.G142fs	HAX1_ENST00000532105.1_Frame_Shift_Ins_p.G14fs|HAX1_ENST00000457918.2_Frame_Shift_Ins_p.G94fs|HAX1_ENST00000483970.2_Frame_Shift_Ins_p.G150fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	142	Involved in HCLS1 binding.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGGATCTTTGGGGGGGTCTT	0.554									Kostmann syndrome																																								0																																										SO:0001589	frameshift_variant	0	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.430dupG	1.37:g.154246363_154246363dupG	ENSP00000329002:p.Gly142fs		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Frame_Shift_Ins	INS	pirsf_HS1--assoc_X-1	p.V151fs	ENST00000328703.7	37	c.447_448	CCDS1064.1	1																																																																																			HAX1	-	pirsf_HS1--assoc_X-1	ENSG00000143575		0.554	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAX1	HGNC	protein_coding	OTTHUMT00000087650.1		0.00	34	0	-	NM_006118		154246357	+1	tier1		no_errors	ENST00000483970	ensembl	human	known	74_37	frame_shift_ins	17.39	38	8	INS	0.892:0.777	G
HCN1	348980	genome.wustl.edu	37	5	45262495	45262495	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:45262495G>A	ENST00000303230.4	-	8	2258	c.2201C>T	c.(2200-2202)cCg>cTg	p.P734L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	734	Gln-rich.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ctgctgctgcggctgctgttg	0.647																																																	0													26.0	28.0	28.0					5																	45262495		2203	4300	6503	SO:0001583	missense	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2201C>T	5.37:g.45262495G>A	ENSP00000307342:p.Pro734Leu			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.P734L	ENST00000303230.4	37	c.2201	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	G	1.124	-0.654430	0.03480	.	.	ENSG00000164588	ENST00000303230	T	0.78924	-1.22	4.43	-5.85	0.02311	.	.	.	.	.	T	0.61048	0.2316	L	0.29908	0.895	0.22171	N	0.999318	B	0.02656	0.0	B	0.01281	0.0	T	0.45977	-0.9224	9	0.33141	T	0.24	.	9.488	0.38942	0.0877:0.0:0.453:0.4593	.	734	O60741	HCN1_HUMAN	L	734	ENSP00000307342:P734L	ENSP00000307342:P734L	P	-	2	0	HCN1	45298252	0.496000	0.26059	0.001000	0.08648	0.036000	0.12997	0.499000	0.22546	-0.760000	0.04677	-0.857000	0.03018	CCG	HCN1	-	NULL	ENSG00000164588		0.647	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0.00	52	0	G	NM_021072		45262495	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	missense	65.22	32	60	SNP	0.004	A
HCN1	348980	genome.wustl.edu	37	5	45267271	45267271	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:45267271T>A	ENST00000303230.4	-	7	1760	c.1703A>T	c.(1702-1704)aAt>aTt	p.N568I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	568					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTCGTTGAAATTGTCCACGGA	0.433																																																	0													157.0	144.0	148.0					5																	45267271		2203	4300	6503	SO:0001583	missense	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1703A>T	5.37:g.45267271T>A	ENSP00000307342:p.Asn568Ile			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.N568I	ENST00000303230.4	37	c.1703	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	T	33	5.241821	0.95272	.	.	ENSG00000164588	ENST00000303230	D	0.92545	-3.06	5.91	5.91	0.95273	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000001	D	0.92734	0.7690	L	0.56280	1.765	0.58432	D	0.999994	P	0.49696	0.927	P	0.50082	0.63	D	0.93433	0.6787	10	0.87932	D	0	.	16.3436	0.83110	0.0:0.0:0.0:1.0	.	568	O60741	HCN1_HUMAN	I	568	ENSP00000307342:N568I	ENSP00000307342:N568I	N	-	2	0	HCN1	45303028	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.698000	0.84413	2.269000	0.75478	0.533000	0.62120	AAT	HCN1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000164588		0.433	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0.00	90	0	T	NM_021072		45267271	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	missense	22.37	118	34	SNP	1.000	A
HDAC11	79885	genome.wustl.edu	37	3	13538267	13538268	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:13538267_13538268insC	ENST00000295757.3	+	4	467_468	c.284_285insC	c.(283-288)atccccfs	p.IP95fs	HDAC11_ENST00000433119.1_Frame_Shift_Ins_p.IP67fs|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000437379.2_Frame_Shift_Ins_p.IP67fs|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000522202.1_Intron|HDAC11_ENST00000404548.1_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	95	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						ATCACAGAAATCCCCCCCGTTA	0.579											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0									,	2,4264		0,2,2131					,	5.0	1.0			94	3,8251		0,3,4124	no	frameshift,intron	HDAC11	NM_024827.3,NM_001136041.2	,	0,5,6255	A1A1,A1R,RR		0.0363,0.0469,0.0399	,	,		5,12515				SO:0001589	frameshift_variant	0			AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.291dupC	3.37:g.13538274_13538274dupC	ENSP00000295757:p.Ile95fs	688	B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Frame_Shift_Ins	INS	pfam_His_deacetylse_dom,prints_His_deacetylse	p.V98fs	ENST00000295757.3	37	c.284_285	CCDS2615.1	3																																																																																			HDAC11	-	pfam_His_deacetylse_dom	ENSG00000163517		0.579	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC11	HGNC	protein_coding	OTTHUMT00000252028.5		0.00	63	0	-	NM_024827		13538268	+1	tier1		no_errors	ENST00000295757	ensembl	human	known	74_37	frame_shift_ins	34.72	47	25	INS	1.000:1.000	C
HDAC3	8841	genome.wustl.edu	37	5	141005807	141005807	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:141005807C>T	ENST00000305264.3	-	11	953	c.874G>A	c.(874-876)Gtg>Atg	p.V292M	AC008781.7_ENST00000422040.2_RNA|HDAC3_ENST00000469207.1_5'Flank	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	292	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CCACCCAGCACGAGTAGAGGG	0.488																																																	0													150.0	117.0	128.0					5																	141005807		2203	4300	6503	SO:0001583	missense	0			AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.874G>A	5.37:g.141005807C>T	ENSP00000302967:p.Val292Met		D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.V292M	ENST00000305264.3	37	c.874	CCDS4264.1	5	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341051	0.81911	.	.	ENSG00000171720	ENST00000305264;ENST00000523353;ENST00000523088	T;T;T	0.71222	-0.55;-0.55;1.47	5.65	5.65	0.86999	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.82646	0.5082	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.77373	-0.2612	10	0.23302	T	0.38	-18.8127	19.5069	0.95121	0.0:1.0:0.0:0.0	.	292	O15379	HDAC3_HUMAN	M	292;101;217	ENSP00000302967:V292M;ENSP00000430667:V101M;ENSP00000429099:V217M	ENSP00000302967:V292M	V	-	1	0	HDAC3	140985991	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	GTG	HDAC3	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1	ENSG00000171720		0.488	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC3	HGNC	protein_coding	OTTHUMT00000251824.2	-	0.00	113	0	C	NM_003883		141005807	-1	tier1	-	no_errors	ENST00000305264	ensembl	human	known	74_37	missense	52.34	51	56	SNP	1.000	T
HDAC4	9759	genome.wustl.edu	37	2	240016733	240016733	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:240016733G>T	ENST00000345617.3	-	17	3029	c.2238C>A	c.(2236-2238)ttC>ttA	p.F746L	HDAC4_ENST00000541256.1_Missense_Mutation_p.F720L|HDAC4_ENST00000543185.1_Missense_Mutation_p.F330L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	746	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGAGCCGGACGAACACGGAGG	0.612																																																	0													77.0	85.0	82.0					2																	240016733		2203	4300	6503	SO:0001583	missense	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2238C>A	2.37:g.240016733G>T	ENSP00000264606:p.Phe746Leu		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.F746L	ENST00000345617.3	37	c.2238	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	8.926	0.962203	0.18583	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.65364	0.22;-0.15;0.73	4.46	-8.93	0.00771	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.48935	1.535	0.40990	D	0.984848	D;B;B;B;B;B	0.54601	0.967;0.222;0.013;0.014;0.016;0.2	P;B;B;B;B;B	0.58577	0.841;0.094;0.016;0.005;0.037;0.146	T	0.79305	-0.1858	10	0.56958	D	0.05	.	20.7024	0.99706	0.2754:0.0:0.7246:0.0	.	746;629;720;720;714;746	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	L	746;634;330;720;629	ENSP00000264606:F746L;ENSP00000440481:F330L;ENSP00000443057:F720L	ENSP00000264606:F746L	F	-	3	2	HDAC4	239681670	0.411000	0.25384	0.125000	0.21846	0.040000	0.13550	-0.171000	0.09883	-2.355000	0.00614	-0.768000	0.03414	TTC	HDAC4	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.612	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	-	0.00	83	0	G	NM_006037		240016733	-1	tier1	-	no_errors	ENST00000345617	ensembl	human	known	74_37	missense	9.46	67	7	SNP	0.191	T
HDAC4	9759	genome.wustl.edu	37	2	240036792	240036792	+	Missense_Mutation	SNP	G	G	A	rs201187772		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:240036792G>A	ENST00000345617.3	-	13	2524	c.1733C>T	c.(1732-1734)cCg>cTg	p.P578L	HDAC4_ENST00000541256.1_Missense_Mutation_p.P552L|HDAC4_ENST00000543185.1_Missense_Mutation_p.P162L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	578					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGCTGGCCCGGCTCCACCTC	0.701																																																	0								G	LEU/PRO	0,4406	2.1+/-5.4	0,0,2203	46.0	50.0	48.0		1733	1.7	0.1	2		48	2,8596	2.2+/-6.3	0,2,4297	yes	missense	HDAC4	NM_006037.3	98	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign	578/1085	240036792	2,13002	2203	4299	6502	SO:0001583	missense	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1733C>T	2.37:g.240036792G>A	ENSP00000264606:p.Pro578Leu		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.P578L	ENST00000345617.3	37	c.1733	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	3.598	-0.082202	0.07141	0.0	2.33E-4	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.62105	4.3;0.05;4.3	4.89	1.68	0.24146	.	0.411554	0.24247	N	0.040212	T	0.30103	0.0754	N	0.08118	0	0.34555	D	0.711702	B;P;P;B;B;B	0.39696	0.002;0.683;0.571;0.384;0.001;0.001	B;B;B;B;B;B	0.33392	0.0;0.163;0.105;0.023;0.001;0.001	T	0.27400	-1.0075	9	.	.	.	.	3.822	0.08839	0.082:0.1399:0.4902:0.2879	.	578;461;552;552;546;578	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	L	578;466;162;552;461	ENSP00000264606:P578L;ENSP00000440481:P162L;ENSP00000443057:P552L	.	P	-	2	0	HDAC4	239701729	0.005000	0.15991	0.099000	0.21106	0.044000	0.14063	1.526000	0.35964	0.508000	0.28173	0.655000	0.94253	CCG	HDAC4	-	pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.701	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	-	0.00	97	0	G	NM_006037		240036792	-1	tier1	rs201187772	no_errors	ENST00000345617	ensembl	human	known	74_37	missense	36.51	40	23	SNP	0.502	A
HDAC6	10013	genome.wustl.edu	37	X	48681613	48681613	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:48681613G>T	ENST00000334136.5	+	25	2982	c.2804G>T	c.(2803-2805)gGc>gTc	p.G935V	HDAC6_ENST00000444343.2_Missense_Mutation_p.G949V|HDAC6_ENST00000376619.2_Missense_Mutation_p.G935V			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	935					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GCCATGCTGGGCCAGACCACC	0.652																																					Pancreas(112;205 1675 2305 8976 15959)												0													16.0	15.0	15.0					X																	48681613		2198	4296	6494	SO:0001583	missense	0			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2804G>T	X.37:g.48681613G>T	ENSP00000334061:p.Gly935Val		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.G949V	ENST00000334136.5	37	c.2846	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523548	0.44866	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619	T;T;T	0.61742	0.08;0.09;0.09	4.02	-2.1	0.07210	.	2.917500	0.01050	N	0.004456	T	0.31420	0.0796	N	0.08118	0	0.09310	N	1	B;P;B;B	0.45126	0.04;0.851;0.072;0.092	B;B;B;B	0.36289	0.007;0.221;0.016;0.014	T	0.24548	-1.0157	10	0.30078	T	0.28	0.0041	4.8292	0.13432	0.2297:0.0:0.5735:0.1968	.	925;298;583;935	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	V	949;935;935	ENSP00000398566:G949V;ENSP00000334061:G935V;ENSP00000365804:G935V	ENSP00000334061:G935V	G	+	2	0	HDAC6	48566557	0.000000	0.05858	0.210000	0.23637	0.654000	0.38779	-0.592000	0.05747	-0.075000	0.12798	0.600000	0.82982	GGC	HDAC6	-	NULL	ENSG00000094631		0.652	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2		0.00	79	0	G	NM_006044		48681613	+1			no_errors	ENST00000444343	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.004	T
HDAC9	9734	genome.wustl.edu	37	7	18869172	18869172	+	Splice_Site	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:18869172G>T	ENST00000432645.2	+	18	2457		c.e18+1		HDAC9_ENST00000441542.2_Splice_Site|HDAC9_ENST00000401921.1_Splice_Site|HDAC9_ENST00000406451.4_Splice_Site	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.?(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGTAGATCTGGTATGTATTCC	0.388																																																	2	Unknown(2)	lung(2)											76.0	74.0	74.0					7																	18869172		1848	4092	5940	SO:0001630	splice_region_variant	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2457+1G>T	7.37:g.18869172G>T			A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Splice_Site	SNP	-	e18+1	ENST00000432645.2	37	c.2466+1	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501709	0.44455	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	.	.	.	5.31	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3011	0.37847	0.0762:0.1463:0.7775:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HDAC9	18835697	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.697000	0.74603	2.634000	0.89283	0.650000	0.86243	.	HDAC9	-	-	ENSG00000048052		0.388	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1		0.00	27	0	G		Intron	18869172	+1			no_errors	ENST00000441542	ensembl	human	known	74_37	splice_site	8.33	22	2	SNP	1.000	T
HDGF	3068	genome.wustl.edu	37	1	156713319	156713319	+	Intron	SNP	G	G	A	rs377504506		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:156713319G>A	ENST00000357325.5	-	6	1031				HDGF_ENST00000368209.5_Intron|HDGF_ENST00000416666.2_Intron|MRPL24_ENST00000368211.4_5'Flank|HDGF_ENST00000537739.1_Intron|HDGF_ENST00000465180.1_Intron|HDGF_ENST00000368206.5_Intron|MRPL24_ENST00000361531.2_5'Flank	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		AGCCAGTGCCGGTCTCCTAGG	0.632																																																	0													98.0	117.0	111.0					1																	156713319		692	1591	2283	SO:0001627	intron_variant	0			D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.717-72C>T	1.37:g.156713319G>A			B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	RNA	SNP	-	NULL	ENST00000357325.5	37	NULL	CCDS1156.1	1																																																																																			HDGF	-	-	ENSG00000143321		0.632	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGF	HGNC	protein_coding	OTTHUMT00000098946.1	-	0.00	46	0	G	NM_004494		156713319	-1	tier1	-	no_errors	ENST00000477306	ensembl	human	putative	74_37	rna	31.43	48	22	SNP	0.001	A
HDLBP	3069	genome.wustl.edu	37	2	242179021	242179021	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:242179021T>C	ENST00000391975.1	-	19	2833	c.2606A>G	c.(2605-2607)gAc>gGc	p.D869G	HDLBP_ENST00000310931.4_Missense_Mutation_p.D869G|HDLBP_ENST00000391976.2_Missense_Mutation_p.D869G|HDLBP_ENST00000427183.2_Missense_Mutation_p.D836G	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	869	KH 10. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GCCTACCAGGTCCTCAATGAT	0.602																																																	0													92.0	89.0	90.0					2																	242179021		2203	4300	6503	SO:0001583	missense	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2606A>G	2.37:g.242179021T>C	ENSP00000375836:p.Asp869Gly		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.D869G	ENST00000391975.1	37	c.2606	CCDS2547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	33|33	5.225127|5.225127	0.95173|0.95173	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000427487	T;T;T;T|.	0.19938|.	2.11;2.11;2.11;2.12|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80053|0.80053	0.4553|0.4553	M|M	0.87758|0.87758	2.905|2.905	0.80722|0.80722	D|D	1|1	D;D|.	0.63046|.	0.981;0.992|.	D;P|.	0.66847|.	0.947;0.874|.	T|T	0.83146|0.83146	-0.0106|-0.0106	10|5	0.87932|.	D|.	0|.	-44.5956|-44.5956	15.7344|15.7344	0.77831|0.77831	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	836;869|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	G|A	869;869;869;836|271	ENSP00000375836:D869G;ENSP00000375837:D869G;ENSP00000312042:D869G;ENSP00000399139:D836G|.	ENSP00000312042:D869G|.	D|T	-|-	2|1	0|0	HDLBP|HDLBP	241827694|241827694	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.908000|7.908000	0.87438|0.87438	2.182000|2.182000	0.69389|0.69389	0.459000|0.459000	0.35465|0.35465	GAC|ACC	HDLBP	-	NULL	ENSG00000115677		0.602	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	-	0.00	31	0	T	NM_203346		242179021	-1	tier1	-	no_errors	ENST00000310931	ensembl	human	known	74_37	missense	41.94	18	13	SNP	1.000	C
HEATR5A	25938	genome.wustl.edu	37	14	31852855	31852855	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:31852855G>A	ENST00000389961.3	-	9	1449	c.1450C>T	c.(1450-1452)Cgt>Tgt	p.R484C	HEATR5A_ENST00000543095.2_Missense_Mutation_p.R490C|HEATR5A_ENST00000439348.1_Missense_Mutation_p.R484C|HEATR5A_ENST00000404677.3_Missense_Mutation_p.R490C|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R197C			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	484										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCAAGGCAACGATCCAAGAGT	0.468																																																	0													192.0	181.0	185.0					14																	31852855		1980	4186	6166	SO:0001583	missense	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1450C>T	14.37:g.31852855G>A	ENSP00000374611:p.Arg484Cys		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R484C	ENST00000389961.3	37	c.1450		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.600333|4.600333	0.87055|0.87055	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677|ENST00000550366	T;T;T;T;T|.	0.66460|.	-0.21;-0.21;-0.21;-0.21;-0.21|.	5.89|5.89	5.89|5.89	0.94794|0.94794	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.054715|.	0.64402|.	D|.	0.000001|.	T|T	0.78181|0.78181	0.4243|0.4243	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	P;D;D|.	0.70487|.	0.901;0.921;0.969|.	T|T	0.79147|0.79147	-0.1923|-0.1923	10|5	0.87932|.	D|.	0|.	.|.	15.022|15.022	0.71637|0.71637	0.0:0.0:0.8578:0.1422|0.0:0.0:0.8578:0.1422	.|.	490;484;484|.	B5MC49;Q86XA9-2;Q86XA9|.	.;.;HTR5A_HUMAN|.	C|L	484;484;197;490;490|132	ENSP00000374611:R484C;ENSP00000405407:R484C;ENSP00000408681:R197C;ENSP00000437968:R490C;ENSP00000384646:R490C|.	ENSP00000374611:R484C|.	R|S	-|-	1|2	0|0	HEATR5A|HEATR5A	30922606|30922606	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	3.877000|3.877000	0.56123|0.56123	2.788000|2.788000	0.95919|0.95919	0.557000|0.557000	0.71058|0.71058	CGT|TCG	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.468	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		-	0.00	41	0	G	NM_015473		31852855	-1	tier1	-	no_errors	ENST00000389961	ensembl	human	known	74_37	missense	42.86	24	18	SNP	1.000	A
HEATR5B	54497	genome.wustl.edu	37	2	37208635	37208635	+	Stop_Codon_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:37208635delA	ENST00000233099.5	-	0	6309				HEATR5B_ENST00000354531.2_Stop_Codon_Del	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATTACAAATTAAAAAAAACTT	0.403																																																	0													31.0	34.0	33.0					2																	37208635		2203	4300	6503	SO:0001567	stop_retained_variant	0			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	Exception_encountered	2.37:g.37208635delA	Exception_encountered		B5MDU8|Q7Z3B2|Q9NVL7	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.*2072fs	ENST00000233099.5	37	c.6214	CCDS33181.1	2																																																																																			HEATR5B	-	NULL	ENSG00000008869		0.403	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR5B	HGNC	protein_coding	OTTHUMT00000325492.1		0.00	28	0	A	NM_019024		37208635	-1	tier1		no_errors	ENST00000233099	ensembl	human	known	74_37	frame_shift_del	40.62	19	13	DEL	1.000	-
HECW2	57520	genome.wustl.edu	37	2	197184627	197184627	+	Splice_Site	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:197184627A>G	ENST00000260983.3	-	9	1169	c.987T>C	c.(985-987)gaT>gaC	p.D329D	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	329					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGGAGAGGCATCTGAATGAG	0.408																																																	0													48.0	45.0	46.0					2																	197184627		2203	4300	6503	SO:0001630	splice_region_variant	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.986-1T>C	2.37:g.197184627A>G			B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.D329	ENST00000260983.3	37	c.987	CCDS33354.1	2																																																																																			HECW2	-	NULL	ENSG00000138411		0.408	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3		0.00	18	0	A	NM_020760	Silent	197184627	-1			no_errors	ENST00000260983	ensembl	human	known	74_37	silent	42.86	12	9	SNP	1.000	G
HEG1	57493	genome.wustl.edu	37	3	124733606	124733606	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:124733606G>A	ENST00000311127.4	-	6	1656				HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1						cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGCCCATGTCGTCCGTCACGT	0.582																																																	0																																										SO:0001627	intron_variant	0			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1589-772C>T	3.37:g.124733606G>A			Q6NX66|Q8NC40|Q9BSV0	RNA	SNP	-	NULL	ENST00000311127.4	37	NULL	CCDS46898.1	3																																																																																			HEG1	-	-	ENSG00000173706		0.582	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	-	0.00	33	0	G	XM_087386		124733606	-1	tier1	-	no_errors	ENST00000477536	ensembl	human	putative	74_37	rna	47.37	19	18	SNP	0.000	A
HELLS	3070	genome.wustl.edu	37	10	96352051	96352051	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:96352051delA	ENST00000348459.5	+	16	1938	c.1833delA	c.(1831-1833)ctafs	p.L611fs	HELLS_ENST00000394045.1_Frame_Shift_Del_p.L513fs|HELLS_ENST00000371332.4_Frame_Shift_Del_p.L657fs|HELLS_ENST00000394036.1_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TGCCAGAACTAAAAAAAAGAG	0.313																																																	0													54.0	60.0	58.0					10																	96352051		2202	4298	6500	SO:0001589	frameshift_variant	0			AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.1833delA	10.37:g.96352051delA	ENSP00000239027:p.Leu611fs			Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R660fs	ENST00000348459.5	37	c.1971	CCDS7434.1	10																																																																																			HELLS	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000119969		0.313	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELLS	HGNC	protein_coding	OTTHUMT00000049475.1		0.00	32	0	A	NM_018063		96352051	+1	tier1		no_errors	ENST00000371332	ensembl	human	known	74_37	frame_shift_del	29.82	40	17	DEL	0.958	-
HEPH	9843	genome.wustl.edu	37	X	65393488	65393489	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:65393488_65393489insG	ENST00000343002.2	+	3	1134_1135	c.470_471insG	c.(469-474)ccggggfs	p.PG157fs	HEPH_ENST00000374727.3_Frame_Shift_Ins_p.PG160fs|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000419594.1_Frame_Shift_Ins_p.PG160fs|HEPH_ENST00000519389.1_Frame_Shift_Ins_p.PG211fs|HEPH_ENST00000441993.2_Frame_Shift_Ins_p.PG160fs			Q9BQS7	HEPH_HUMAN	hephaestin	157	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCTGTTCCCCCGGGGGGCAGCC	0.535																																																	0																																										SO:0001589	frameshift_variant	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.476dupG	X.37:g.65393494_65393494dupG	ENSP00000343939:p.Pro157fs		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Frame_Shift_Ins	INS	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.S214fs	ENST00000343002.2	37	c.632_633		X																																																																																			HEPH	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin	ENSG00000089472		0.535	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1		0.00	34	0	-	NM_138737		65393489	+1	tier1		no_errors	ENST00000519389	ensembl	human	known	74_37	frame_shift_ins	50.00	13	13	INS	0.997:0.835	G
HEPHL1	341208	genome.wustl.edu	37	11	93844770	93844770	+	Splice_Site	SNP	C	C	T	rs560509955		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:93844770C>T	ENST00000315765.9	+	19	3284	c.3276C>T	c.(3274-3276)aaC>aaT	p.N1092N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1092	Plastocyanin-like 6.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGCCATCTAACGGTAATGATA	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		22226	0.0		0.0	False		,,,				2504	0.001																0													49.0	47.0	48.0					11																	93844770		1961	4152	6113	SO:0001630	splice_region_variant	0			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.3277+1C>T	11.37:g.93844770C>T			Q3C1W7	Silent	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.N1092	ENST00000315765.9	37	c.3276	CCDS44710.1	11																																																																																			HEPHL1	-	NULL	ENSG00000181333		0.448	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	HGNC	protein_coding	OTTHUMT00000396103.2	-	0.00	19	0	C	XM_291947	Silent	93844770	+1	tier1	-	no_errors	ENST00000315765	ensembl	human	known	74_37	silent	56.52	10	13	SNP	0.004	T
HERC2P2	400322	genome.wustl.edu	37	15	23311345	23311345	+	RNA	SNP	G	G	A	rs527369121		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:23311345G>A	ENST00000560464.1	-	0	3655									hect domain and RLD 2 pseudogene 2																		CGACACGTCCGCATGTCAGAG	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		19768	0.001		0.0	False		,,,				2504	0.0																0																																												0			AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23311345G>A				RNA	SNP	-	NULL	ENST00000560464.1	37	NULL		15																																																																																			HERC2P2	-	-	ENSG00000140181		0.502	HERC2P2-001	KNOWN	basic	processed_transcript	HERC2P2	HGNC	pseudogene	OTTHUMT00000415936.1	-	0.00	27	0	G			23311345	-1	tier1	-	no_errors	ENST00000559248	ensembl	human	known	74_37	rna	72.73	6	16	SNP	1.000	A
HERC2	8924	genome.wustl.edu	37	15	28447658	28447658	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:28447658C>T	ENST00000261609.7	-	46	7423	c.7315G>A	c.(7315-7317)Gcc>Acc	p.A2439T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCTGCACGGCGACAGGCGTG	0.622																																																	0													6.0	5.0	6.0					15																	28447658		2095	4102	6197	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7315G>A	15.37:g.28447658C>T	ENSP00000261609:p.Ala2439Thr			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.A2439T	ENST00000261609.7	37	c.7315	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	5.875	0.345652	0.11126	.	.	ENSG00000128731	ENST00000261609	T	0.37915	1.17	3.99	-2.96	0.05547	.	0.448802	0.22217	N	0.063007	T	0.08714	0.0216	N	0.01705	-0.755	0.25726	N	0.985323	B	0.02656	0.0	B	0.01281	0.0	T	0.27365	-1.0076	10	0.10636	T	0.68	.	2.9245	0.05780	0.1315:0.1114:0.1442:0.6129	.	2439	O95714	HERC2_HUMAN	T	2439	ENSP00000261609:A2439T	ENSP00000261609:A2439T	A	-	1	0	HERC2	26121253	0.999000	0.42202	0.003000	0.11579	0.834000	0.47266	1.436000	0.34980	-0.274000	0.09232	-0.391000	0.06502	GCC	HERC2	-	NULL	ENSG00000128731		0.622	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	-	0.00	17	0	C	NM_004667		28447658	-1	tier1	-	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.844	T
HERC2P8	440366	genome.wustl.edu	37	16	33106788	33106788	+	IGR	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:33106788G>A								RP11-19N8.4 (3878 upstream) : HERC2P8 (3340 downstream)																							GGAGTGCAGCGTGCACAGCAG	0.612																																																	0																																										SO:0001628	intergenic_variant	0																															16.37:g.33106788G>A				RNA	SNP	-	NULL		37	NULL		16																																																																																			HERC2P8	-	-	ENSG00000261599	0	0.612					HERC2P8	HGNC			-	0.00	18	0	G			33106788	-1	tier1	-	no_errors	ENST00000564795	ensembl	human	known	74_37	rna	30.00	14	6	SNP	0.759	A
HERC4	26091	genome.wustl.edu	37	10	69716603	69716604	+	Intron	DEL	AA	AA	-	rs78135151		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:69716603_69716604delAA	ENST00000395198.3	-	18	2297				HERC4_ENST00000395187.2_Intron|HERC4_ENST00000373700.4_Intron|HERC4_ENST00000277817.6_Intron|HERC4_ENST00000480158.1_5'UTR|HERC4_ENST00000412272.2_Intron	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4						cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AGAAACAATTAAAAAAAAAAAC	0.327																																																	0									,	38,21,550,3653		0,0,1,37,2,0,17,4,541,1529					,	-2.0	0.0			43	47,35,813,7353		0,0,0,47,3,0,29,1,811,3233	no	intron,intron	HERC4	NM_022079.2,NM_015601.3	,	0,0,1,84,5,0,46,5,1352,4762	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		10.8511,14.2891,12.0224	,	,		85,56,1363,11006				SO:0001627	intron_variant	0			AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.2049+30TT>-	10.37:g.69716611_69716612delAA			Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	RNA	DEL	-	NULL	ENST00000395198.3	37	NULL	CCDS41533.1	10																																																																																			HERC4	-	-	ENSG00000148634		0.327	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1		0.00	29	0	AA	NM_015601		69716604	-1	tier1		no_errors	ENST00000480158	ensembl	human	known	74_37	rna	58.82	7	10	DEL	0.000:0.000	-
HERPUD2	64224	genome.wustl.edu	37	7	35675005	35675005	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:35675005C>T	ENST00000396081.1	-	6	1485	c.681G>A	c.(679-681)caG>caA	p.Q227Q	HERPUD2_ENST00000311350.3_Silent_p.Q227Q|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	227					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						AATTTAGAGGCTGTGAAGTAG	0.423																																																	0													111.0	116.0	114.0					7																	35675005		2203	4300	6503	SO:0001819	synonymous_variant	0			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.681G>A	7.37:g.35675005C>T			A4D1Y8|Q9H6F9	Silent	SNP	pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.Q227	ENST00000396081.1	37	c.681	CCDS5446.1	7																																																																																			HERPUD2	-	NULL	ENSG00000122557		0.423	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERPUD2	HGNC	protein_coding	OTTHUMT00000250584.1	-	0.00	73	0	C	NM_022373		35675005	-1	tier1	-	no_errors	ENST00000311350	ensembl	human	known	74_37	silent	48.81	43	41	SNP	0.998	T
HFE	3077	genome.wustl.edu	37	6	26093113	26093113	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:26093113delC	ENST00000357618.5	+	4	939	c.817delC	c.(817-819)cccfs	p.P274fs	HFE_ENST00000352392.4_Intron|HFE_ENST00000461397.1_Frame_Shift_Del_p.P260fs|HFE_ENST00000470149.1_Frame_Shift_Del_p.P271fs|HFE_ENST00000397022.3_Frame_Shift_Del_p.P251fs|HFE_ENST00000317896.7_Frame_Shift_Del_p.P182fs|HFE_ENST00000349999.4_Frame_Shift_Del_p.P186fs|HFE_ENST00000309234.6_Frame_Shift_Del_p.P274fs|HFE_ENST00000488199.1_Frame_Shift_Del_p.P172fs|HFE_ENST00000336625.8_Frame_Shift_Del_p.P168fs|HFE_ENST00000353147.5_Frame_Shift_Del_p.P94fs	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	274	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTGGCTGTACCCCCTGGGGA	0.557									Hemochromatosis																																								0													99.0	97.0	98.0					6																	26093113		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database			CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"""Immunoglobulin superfamily / C1-set domain containing"""	4886	protein-coding gene	gene with protein product	"""high Fe"""	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.817delC	6.37:g.26093113delC	ENSP00000417404:p.Pro274fs		B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Frame_Shift_Del	DEL	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.P274fs	ENST00000357618.5	37	c.817	CCDS4578.1	6																																																																																			HFE	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000010704		0.557	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HFE	HGNC	protein_coding	OTTHUMT00000356133.1		0.00	98	0	C			26093113	+1	tier1		no_errors	ENST00000357618	ensembl	human	known	74_37	frame_shift_del	66.13	21	41	DEL	0.000	-
HFE	3077	genome.wustl.edu	37	6	26093117	26093117	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:26093117C>T	ENST00000357618.5	+	4	943	c.821C>T	c.(820-822)cCt>cTt	p.P274L	HFE_ENST00000352392.4_Intron|HFE_ENST00000461397.1_Missense_Mutation_p.P260L|HFE_ENST00000470149.1_Missense_Mutation_p.P271L|HFE_ENST00000397022.3_Missense_Mutation_p.P251L|HFE_ENST00000317896.7_Missense_Mutation_p.P182L|HFE_ENST00000349999.4_Missense_Mutation_p.P186L|HFE_ENST00000309234.6_Missense_Mutation_p.P274L|HFE_ENST00000488199.1_Missense_Mutation_p.P172L|HFE_ENST00000336625.8_Missense_Mutation_p.P168L|HFE_ENST00000353147.5_Missense_Mutation_p.P94L	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	274	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTGTACCCCCTGGGGAAGAG	0.552									Hemochromatosis																																								0													92.0	89.0	90.0					6																	26093117		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database			CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"""Immunoglobulin superfamily / C1-set domain containing"""	4886	protein-coding gene	gene with protein product	"""high Fe"""	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.821C>T	6.37:g.26093117C>T	ENSP00000417404:p.Pro274Leu		B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.P274L	ENST00000357618.5	37	c.821	CCDS4578.1	6	.	.	.	.	.	.	.	.	.	.	.	5.683	0.310517	0.10733	.	.	ENSG00000010704	ENST00000349999;ENST00000397022;ENST00000317896;ENST00000353147;ENST00000357618;ENST00000470149;ENST00000336625;ENST00000461397;ENST00000488199;ENST00000309234	T;T;T;T;T;T;T;T;T;T	0.03358	3.96;3.96;3.96;3.96;3.96;3.96;3.96;3.96;3.96;3.96	5.35	2.58	0.30949	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.434585	0.21692	N	0.070549	T	0.02047	0.0064	M	0.80183	2.485	0.29217	N	0.874162	B;B;B;B;B;B;B;B;B	0.23735	0.065;0.004;0.02;0.006;0.007;0.01;0.09;0.002;0.012	B;B;B;B;B;B;B;B;B	0.21360	0.021;0.003;0.009;0.017;0.028;0.009;0.034;0.009;0.014	T	0.32455	-0.9906	10	0.87932	D	0	.	4.8265	0.13419	0.1705:0.6533:0.0:0.1762	.	271;94;172;182;168;260;186;251;274	Q6B0J5;Q30201-6;Q30201-4;Q30201-7;Q30201-10;Q30201-3;Q30201-2;Q30201-5;Q30201	.;.;.;.;.;.;.;.;HFE_HUMAN	L	186;251;182;94;274;271;168;260;172;274	ENSP00000259699:P186L;ENSP00000380217:P251L;ENSP00000313776:P182L;ENSP00000312342:P94L;ENSP00000417404:P274L;ENSP00000419725:P271L;ENSP00000337819:P168L;ENSP00000420802:P260L;ENSP00000420559:P172L;ENSP00000311698:P274L	ENSP00000311698:P274L	P	+	2	0	HFE	26201096	0.002000	0.14202	0.011000	0.14972	0.065000	0.16274	1.157000	0.31724	0.469000	0.27268	0.655000	0.94253	CCT	HFE	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom	ENSG00000010704		0.552	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HFE	HGNC	protein_coding	OTTHUMT00000356133.1		0.00	99	0	C			26093117	+1			no_errors	ENST00000357618	ensembl	human	known	74_37	missense	8.20	56	5	SNP	0.018	T
HGFAC	3083	genome.wustl.edu	37	4	3443798	3443800	+	In_Frame_Del	DEL	CTG	CTG	-	rs372137428		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:3443798_3443800delCTG	ENST00000382774.3	+	1	185_187	c.70_72delCTG	c.(70-72)ctgdel	p.L29del	HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	29					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCCTCCTCCTGCTGCTGCTGC	0.714																																																	0										1,155,2800		0,0,1,8,139,1330						2.2	1.0			15	2,247,5979		0,0,2,8,231,2873	no	codingComplex	HGFAC	NM_001528.2		0,0,3,16,370,4203	A1A1,A1A2,A1R,A2A2,A2R,RR		3.9981,5.2774,4.4098				3,402,8779				SO:0001651	inframe_deletion	0			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.70_72delCTG	4.37:g.3443807_3443809delCTG	ENSP00000372224:p.Leu29del		Q14726|Q2M1W7|Q53X47	In_Frame_Del	DEL	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L27in_frame_del	ENST00000382774.3	37	c.70_72	CCDS3369.1	4																																																																																			HGFAC	-	pirsf_Coagulation_fac_XIIa/HGFA	ENSG00000109758		0.714	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3		0.00	48	0	CTG			3443800	+1	tier1		no_errors	ENST00000382774	ensembl	human	known	74_37	in_frame_del	10.71	25	3	DEL	0.997:0.997:0.998	-
HGFAC	3083	genome.wustl.edu	37	4	3444594	3444594	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:3444594delC	ENST00000382774.3	+	2	368	c.253delC	c.(253-255)cccfs	p.P87fs	HGFAC_ENST00000511533.1_Frame_Shift_Del_p.P87fs	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	87					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGGGCTCCCGCCCCCGCCCAG	0.672																																																	0													42.0	50.0	48.0					4																	3444594		2200	4299	6499	SO:0001589	frameshift_variant	0			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.253delC	4.37:g.3444594delC	ENSP00000372224:p.Pro87fs		Q14726|Q2M1W7|Q53X47	Frame_Shift_Del	DEL	pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.P86fs	ENST00000382774.3	37	c.253	CCDS3369.1	4																																																																																			HGFAC	-	pirsf_Coagulation_fac_XIIa/HGFA	ENSG00000109758		0.672	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3		0.00	24	0	C			3444594	+1			no_errors	ENST00000382774	ensembl	human	known	74_37	frame_shift_del	31.25	11	5	DEL	0.000	0
HHIP	64399	genome.wustl.edu	37	4	145658978	145658978	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:145658978delA	ENST00000296575.3	+	13	2627	c.1972delA	c.(1972-1974)aaafs	p.K659fs		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	659	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GTGCCTCTGTAAAAAAGGATA	0.443																																																	0													154.0	130.0	138.0					4																	145658978		2203	4300	6503	SO:0001589	frameshift_variant	0			AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1972delA	4.37:g.145658978delA	ENSP00000296575:p.Lys659fs		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Frame_Shift_Del	DEL	pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom	p.G660fs	ENST00000296575.3	37	c.1972	CCDS3762.1	4																																																																																			HHIP	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000164161		0.443	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIP	HGNC	protein_coding	OTTHUMT00000364887.2		0.00	68	0	A			145658978	+1	tier1		no_errors	ENST00000296575	ensembl	human	known	74_37	frame_shift_del	41.94	36	26	DEL	1.000	-
HIF1A	3091	genome.wustl.edu	37	14	62162351	62162351	+	5'UTR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:62162351C>T	ENST00000337138.4	+	0	94				HIF1A_ENST00000539097.1_5'Flank|HIF1A_ENST00000394997.1_5'UTR|HIF1A_ENST00000557538.1_5'Flank|HIF1A_ENST00000323441.6_5'Flank|HIF1A-AS1_ENST00000557544.1_lincRNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)						angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	GGGCCCGGACCCCGGCGATTG	0.667																																																	0																																										SO:0001623	5_prime_UTR_variant	0			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.-172C>T	14.37:g.62162351C>T			C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	RNA	SNP	-	NULL	ENST00000337138.4	37	NULL	CCDS9753.1	14																																																																																			HIF1A	-	-	ENSG00000100644		0.667	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	-	0.00	17	0	C	NM_001530		62162351	+1	tier1	-	no_errors	ENST00000553999	ensembl	human	known	74_37	rna	55.56	4	5	SNP	0.001	T
HIF1A	3091	genome.wustl.edu	37	14	62207881	62207881	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:62207881G>A	ENST00000337138.4	+	12	2333	c.2068G>A	c.(2068-2070)Gtg>Atg	p.V690M	HIF1A_ENST00000539097.1_Missense_Mutation_p.V714M|HIF1A_ENST00000394997.1_Missense_Mutation_p.V691M|HIF1A-AS2_ENST00000554254.1_lincRNA|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.V631M|HIF1A_ENST00000323441.6_Missense_Mutation_p.V690M	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	690	ID.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.V690M(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	AAGCCCTAACGTGTTATCTGT	0.343																																																	1	Substitution - Missense(1)	breast(1)											85.0	78.0	80.0					14																	62207881		2203	4300	6503	SO:0001583	missense	0			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.2068G>A	14.37:g.62207881G>A	ENSP00000338018:p.Val690Met		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.V714M	ENST00000337138.4	37	c.2140	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	G	11.61	1.689407	0.29962	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.54866	0.71;0.71;0.55;0.71;0.71	5.72	1.69	0.24217	.	3.354900	0.00465	N	0.000111	T	0.34832	0.0911	N	0.14661	0.345	0.21652	N	0.999601	B;B;B	0.30281	0.012;0.275;0.275	B;B;B	0.19148	0.002;0.024;0.024	T	0.22556	-1.0213	10	0.35671	T	0.21	.	6.8675	0.24102	0.0:0.3386:0.2994:0.362	.	691;690;690	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	M	441;631;690;691;690;631;714	ENSP00000338018:V690M;ENSP00000378446:V691M;ENSP00000323326:V690M;ENSP00000451696:V631M;ENSP00000437955:V714M	ENSP00000323326:V690M	V	+	1	0	HIF1A	61277634	0.889000	0.30405	0.989000	0.46669	0.958000	0.62258	1.095000	0.30964	0.389000	0.25086	0.650000	0.86243	GTG	HIF1A	-	NULL	ENSG00000100644		0.343	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	-	0.00	25	0	G	NM_001530		62207881	+1	tier1	-	no_errors	ENST00000539097	ensembl	human	known	74_37	missense	59.26	11	16	SNP	0.810	A
HILPDA	29923	genome.wustl.edu	37	7	128097964	128097964	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:128097964delA	ENST00000257696.4	+	0	843				HILPDA_ENST00000481454.1_3'UTR|RP11-155G14.6_ENST00000493710.1_RNA|RP11-212P7.3_ENST00000462662.1_RNA|HILPDA_ENST00000435296.2_3'UTR	NM_001098786.1|NM_013332.3	NP_001092256.1|NP_037464.1	Q9Y5L2	HLPDA_HUMAN	hypoxia inducible lipid droplet-associated						autocrine signaling (GO:0035425)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine production (GO:0001819)|positive regulation of lipid storage (GO:0010884)|response to stress (GO:0006950)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|secretory granule (GO:0030141)	receptor binding (GO:0005102)										actccatctcaaaaaaaaaag	0.527																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF144755	CCDS5802.1	7q32.1	2011-11-02	2011-11-02	2011-11-02	ENSG00000135245	ENSG00000135245			28859	protein-coding gene	gene with protein product	"""hypoxia inducible gene 2"""		"""chromosome 7 open reading frame 68"""	C7orf68		10690527, 15930302	Standard	NM_001098786		Approved	FLJ21076, HIG-2, HIG2	uc010lli.3	Q9Y5L2	OTTHUMG00000157712	ENST00000257696.4:c.*450A>-	7.37:g.128097964delA			A4D0Z5|Q52LY5|Q53HJ7	RNA	DEL	-	NULL	ENST00000257696.4	37	NULL	CCDS5802.1	7																																																																																			HILPDA	-	-	ENSG00000135245		0.527	HILPDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HILPDA	HGNC	protein_coding	OTTHUMT00000349450.1		0.00	25	0	A	NM_013332		128097964	+1	tier1		no_errors	ENST00000466473	ensembl	human	known	74_37	rna	52.94	8	9	DEL	0.015	-
COL1A1	1277	genome.wustl.edu	37	17	48258285	48258288	+	IGR	DEL	AAAA	AAAA	-	rs558957083|rs528269417	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:48258285_48258288delAAAA	ENST00000225964.5	-	0	6727				HILS1_ENST00000504307.1_RNA	NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1						blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GGTGCTGGGGAAAAAAAAAAAAAA	0.51			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	0																																										SO:0001628	intergenic_variant	0			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674		17.37:g.48258293_48258296delAAAA			O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	RNA	DEL	-	NULL	ENST00000225964.5	37	NULL	CCDS11561.1	17																																																																																			HILS1	-	-	ENSG00000188662		0.510	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HILS1	HGNC	protein_coding	OTTHUMT00000309036.2		0.00	45	0	AAAA			48258288	-1	tier1		no_errors	ENST00000504307	ensembl	human	known	74_37	rna	38.24	21	13	DEL	0.000:0.000:0.000:0.000	-
HIPK1	204851	genome.wustl.edu	37	1	114499264	114499264	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:114499264G>T	ENST00000369558.1	+	6	1655	c.1423G>T	c.(1423-1425)Gac>Tac	p.D475Y	HIPK1_ENST00000369561.4_Missense_Mutation_p.D475Y|HIPK1_ENST00000369554.2_Missense_Mutation_p.D475Y|HIPK1_ENST00000369555.2_Missense_Mutation_p.D475Y|HIPK1_ENST00000406344.1_Missense_Mutation_p.D81Y|HIPK1_ENST00000369559.4_Missense_Mutation_p.D475Y|HIPK1_ENST00000369553.1_Missense_Mutation_p.D81Y|HIPK1_ENST00000340480.4_Missense_Mutation_p.D101Y|HIPK1_ENST00000426820.2_Missense_Mutation_p.D475Y			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	475	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATGTCTACAGACCTGGAGGG	0.393																																																	0													81.0	77.0	78.0					1																	114499264		2203	4300	6503	SO:0001583	missense	0			AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.1423G>T	1.37:g.114499264G>T	ENSP00000358571:p.Asp475Tyr		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D475Y	ENST00000369558.1	37	c.1423	CCDS867.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071159	0.76301	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344	T;T;T;T;T;T;T;T;T;T	0.24723	2.06;2.06;2.06;2.06;2.06;2.06;2.06;3.72;1.84;1.84	5.08	5.08	0.68730	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.33206	0.0855	L	0.31371	0.925	0.80722	D	1	D;D;D	0.89917	0.978;1.0;1.0	D;D;D	0.87578	0.929;0.998;0.997	T	0.17684	-1.0361	10	0.87932	D	0	.	18.6579	0.91460	0.0:0.0:1.0:0.0	.	81;475;475	Q86Z02-4;Q86Z02;Q86Z02-2	.;HIPK1_HUMAN;.	Y	546;475;475;475;475;475;475;101;81;81	ENSP00000407442:D546Y;ENSP00000358572:D475Y;ENSP00000409673:D475Y;ENSP00000358567:D475Y;ENSP00000358568:D475Y;ENSP00000358571:D475Y;ENSP00000358574:D475Y;ENSP00000340956:D101Y;ENSP00000358566:D81Y;ENSP00000384960:D81Y	ENSP00000340956:D101Y	D	+	1	0	HIPK1	114300787	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.537000	0.60643	2.646000	0.89796	0.650000	0.86243	GAC	HIPK1	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000163349		0.393	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HIPK1	HGNC	protein_coding	OTTHUMT00000033127.1	-	0.00	46	0	G	NM_198268		114499264	+1	tier1	-	no_errors	ENST00000369558	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
HIPK4	147746	genome.wustl.edu	37	19	40895566	40895566	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:40895566C>T	ENST00000291823.2	-	1	528	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A82T(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			AACTTGAGGGCGTCATGGAAG	0.567																																																	2	Substitution - Missense(2)	prostate(2)											117.0	111.0	113.0					19																	40895566		2203	4300	6503	SO:0001583	missense	0			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.244G>A	19.37:g.40895566C>T	ENSP00000291823:p.Ala82Thr		A8K863|Q96M54	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A82T	ENST00000291823.2	37	c.244	CCDS12555.1	19	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408311	0.42715	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.20069	2.1	5.21	4.18	0.49190	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000083	T	0.08403	0.0209	N	0.05306	-0.075	0.32375	N	0.555297	D	0.53151	0.958	B	0.35413	0.202	T	0.08576	-1.0715	10	0.72032	D	0.01	.	9.1848	0.37163	0.0:0.833:0.0:0.167	.	82	Q8NE63	HIPK4_HUMAN	T	82;47	ENSP00000291823:A82T	ENSP00000291823:A82T	A	-	1	0	HIPK4	45587406	0.306000	0.24490	0.912000	0.35992	0.904000	0.53231	1.732000	0.38146	1.434000	0.47414	0.563000	0.77884	GCC	HIPK4	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000160396		0.567	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIPK4	HGNC	protein_coding	OTTHUMT00000462593.1	-	0.00	47	0	C	NM_144685		40895566	-1	tier1	-	no_errors	ENST00000291823	ensembl	human	known	74_37	missense	35.09	37	20	SNP	0.989	T
HIST1H2AD	3013	genome.wustl.edu	37	6	26199227	26199228	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:26199227_26199228insG	ENST00000341023.1	-	1	243_244	c.244_245insC	c.(244-246)cgafs	p.R82fs	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	82						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				CTGCAGGTGTCGGGGGATGATG	0.609																																																	0																																										SO:0001589	frameshift_variant	0			Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"""Histones / Replication-dependent"""	4729	protein-coding gene	gene with protein product		602792	"""H2A histone family, member G"", ""histone 1, H2ad"""	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.245dupC	6.37:g.26199232_26199232dupG	ENSP00000341094:p.Arg82fs		A0PK91|P57754|Q6FGY6	Frame_Shift_Ins	INS	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R82fs	ENST00000341023.1	37	c.245_244	CCDS4591.1	6																																																																																			HIST1H2AD	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000196866		0.609	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AD	HGNC	protein_coding	OTTHUMT00000040100.1		0.00	124	0	-	NM_021065		26199228	-1	tier1		no_errors	ENST00000341023	ensembl	human	known	74_37	frame_shift_ins	68.38	43	93	INS	1.000:1.000	G
HIST1H2BN	8341	genome.wustl.edu	37	6	27806814	27806814	+	Silent	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:27806814C>A	ENST00000396980.3	+	1	375	c.375C>A	c.(373-375)tcC>tcA	p.S125S	HIST1H2AK_ENST00000330180.2_5'Flank|HIST1H2BN_ENST00000606613.1_Silent_p.S125S	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	125					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						ACACCAGTTCCAAGTGAGCCC	0.637																																																	0													37.0	39.0	39.0					6																	27806814		2203	4296	6499	SO:0001819	synonymous_variant	0			Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"""Histones / Replication-dependent"""	4749	protein-coding gene	gene with protein product		602801	"""H2B histone family, member D"", ""histone 1, H2bn"""	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.375C>A	6.37:g.27806814C>A			B2R5L4|Q494S8|Q96FB7	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.S125	ENST00000396980.3	37	c.375	CCDS4633.1	6																																																																																			HIST1H2BN	-	superfamily_Histone-fold	ENSG00000233822		0.637	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BN	HGNC	protein_coding	OTTHUMT00000043840.2		0.00	90	0	C	NM_003520		27806814	+1			no_errors	ENST00000396980	ensembl	human	known	74_37	silent	5.80	65	4	SNP	1.000	A
HIVEP3	59269	genome.wustl.edu	37	1	42046841	42046841	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:42046841G>A	ENST00000372583.1	-	4	4513	c.3628C>T	c.(3628-3630)Cct>Tct	p.P1210S	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1210S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1210S|HIVEP3_ENST00000372584.1_Missense_Mutation_p.P1210S|HIVEP3_ENST00000460604.1_5'Flank	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1210					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCTGGGTGAGGCATGAGCTGG	0.602																																																	0													72.0	71.0	71.0					1																	42046841		2203	4300	6503	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3628C>T	1.37:g.42046841G>A	ENSP00000361664:p.Pro1210Ser		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1210S	ENST00000372583.1	37	c.3628	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	G	8.034	0.762430	0.15914	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07327	3.21;3.2;3.2;3.21	4.87	4.87	0.63330	.	0.136591	0.34088	N	0.004278	T	0.06005	0.0156	L	0.27053	0.805	0.30782	N	0.741853	P;B	0.36110	0.537;0.402	B;B	0.35470	0.203;0.1	T	0.08911	-1.0699	10	0.36615	T	0.2	-3.8704	7.4864	0.27437	0.085:0.0:0.7478:0.1673	.	1210;1210	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	S	1210	ENSP00000361665:P1210S;ENSP00000361664:P1210S;ENSP00000247584:P1210S;ENSP00000410828:P1210S	ENSP00000247584:P1210S	P	-	1	0	HIVEP3	41819428	0.999000	0.42202	1.000000	0.80357	0.607000	0.37147	1.024000	0.30077	2.542000	0.85734	0.467000	0.42956	CCT	HIVEP3	-	NULL	ENSG00000127124		0.602	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	-	0.00	55	0	G	NM_024503		42046841	-1	tier1	-	no_errors	ENST00000247584	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.996	A
HIVEP3	59269	genome.wustl.edu	37	1	42048989	42048989	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:42048989G>A	ENST00000372583.1	-	4	2365	c.1480C>T	c.(1480-1482)Cgc>Tgc	p.R494C	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R494C|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R494C|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R494C	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	494	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ATGCTGCTGCGCCTGGACAGT	0.587																																																	0													88.0	87.0	87.0					1																	42048989		2203	4300	6503	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1480C>T	1.37:g.42048989G>A	ENSP00000361664:p.Arg494Cys		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R494C	ENST00000372583.1	37	c.1480	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226949	0.58668	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	4.82	4.82	0.62117	.	0.122178	0.37809	N	0.001922	T	0.43211	0.1237	M	0.71206	2.165	0.52501	D	0.999954	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.40346	-0.9568	10	0.87932	D	0	0.0787	17.6825	0.88248	0.0:0.0:1.0:0.0	.	494;494	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	C	494	ENSP00000361665:R494C;ENSP00000361664:R494C;ENSP00000247584:R494C;ENSP00000410828:R494C	ENSP00000247584:R494C	R	-	1	0	HIVEP3	41821576	1.000000	0.71417	0.994000	0.49952	0.844000	0.47949	7.087000	0.76893	2.514000	0.84764	0.561000	0.74099	CGC	HIVEP3	-	NULL	ENSG00000127124		0.587	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	-	0.00	60	0	G	NM_024503		42048989	-1	tier1	-	no_errors	ENST00000247584	ensembl	human	known	74_37	missense	10.99	81	10	SNP	1.000	A
HIVEP3	59269	genome.wustl.edu	37	1	42049670	42049670	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:42049670G>A	ENST00000372583.1	-	4	1684	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R267W|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R267W|HIVEP3_ENST00000372584.1_Missense_Mutation_p.R267W	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	267	Acidic 1.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCAGGGATCCGCTCCATCTCC	0.582																																																	0													65.0	61.0	62.0					1																	42049670		2203	4300	6503	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.799C>T	1.37:g.42049670G>A	ENSP00000361664:p.Arg267Trp		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R267W	ENST00000372583.1	37	c.799	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827757	0.32329	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.07216	3.22;3.21;3.21;3.22	5.15	2.76	0.32466	.	0.000000	0.64402	D	0.000016	T	0.13970	0.0338	N	0.19112	0.55	0.33615	D	0.604043	D;D	0.89917	1.0;1.0	D;D	0.70016	0.967;0.928	T	0.11665	-1.0578	10	0.48119	T	0.1	2.2081	12.2702	0.54702	0.0:0.0:0.4896:0.5104	.	267;267	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	W	267	ENSP00000361665:R267W;ENSP00000361664:R267W;ENSP00000247584:R267W;ENSP00000410828:R267W	ENSP00000247584:R267W	R	-	1	2	HIVEP3	41822257	0.863000	0.29885	1.000000	0.80357	0.792000	0.44763	0.653000	0.24902	0.389000	0.25086	-0.274000	0.10170	CGG	HIVEP3	-	NULL	ENSG00000127124		0.582	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	-	0.00	30	0	G	NM_024503		42049670	-1	tier1	-	no_errors	ENST00000247584	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.992	A
HLA-F	3134	genome.wustl.edu	37	6	29694802	29694803	+	IGR	INS	-	-	T	rs17875385		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:29694802_29694803insT	ENST00000376861.1	+	0	1544				HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Frame_Shift_Ins_p.F394fs|HLA-F_ENST00000440587.2_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535																																																	0										16,3332		2,12,1660						-0.3	0.3		dbSNP_124	229	17,6555		4,9,3273	no	frameshift	HLA-F	NM_001098479.1		6,21,4933	A1A1,A1R,RR		0.2587,0.4779,0.3327				33,9887				SO:0001628	intergenic_variant	0			AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694810_29694810dupT			Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Frame_Shift_Ins	INS	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.L395fs	ENST00000376861.1	37	c.1179_1180	CCDS43438.1	6																																																																																			HLA-F	-	NULL	ENSG00000204642		0.535	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-F	HGNC	protein_coding	OTTHUMT00000195083.1		0.00	67	0	-	NM_018950		29694803	+1	tier1		no_errors	ENST00000259951	ensembl	human	known	74_37	frame_shift_ins	9.33	68	7	INS	1.000:1.000	T
ZNRD1-AS1	80862	genome.wustl.edu	37	6	29976018	29976018	+	RNA	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:29976018C>T	ENST00000376797.3	-	0	1053				ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGAGGCATAACGAGGTCCTGG	0.587																																																	0																																												0			AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29976018C>T				RNA	SNP	-	NULL	ENST00000376797.3	37	NULL		6																																																																																			HLA-J	-	-	ENSG00000204622		0.587	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	HLA-J	HGNC	antisense	OTTHUMT00000253083.1	-	0.00	65	0	C	NR_026751		29976018	+1	tier1	-	no_errors	ENST00000462773	ensembl	human	known	74_37	rna	36.51	40	23	SNP	0.693	T
HLA-DMB	3109	genome.wustl.edu	37	6	32906673	32906673	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:32906673T>C	ENST00000418107.2	-	2	387	c.125A>G	c.(124-126)tAc>tGc	p.Y42C	HLA-DMB_ENST00000416244.2_Missense_Mutation_p.Y42C|AL645941.1_ENST00000390777.1_RNA|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.Y74C	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	42	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)			breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GGAGATGCAGTATGTGAAATC	0.527																																																	0													120.0	129.0	126.0					6																	32906673		1510	2709	4219	SO:0001583	missense	0				CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.125A>G	6.37:g.32906673T>C	ENSP00000398890:p.Tyr42Cys		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_II_b_N,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Y42C	ENST00000418107.2	37	c.125	CCDS4760.1	6	.	.	.	.	.	.	.	.	.	.	T	15.23	2.770574	0.49680	.	.	ENSG00000242574;ENSG00000242574;ENSG00000242574;ENSG00000248993	ENST00000446948;ENST00000418107;ENST00000416244;ENST00000429234	T;T;T	0.00348	8.0;8.0;8.0	5.07	3.87	0.44632	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	0.421784	0.20316	N	0.094731	T	0.00300	0.0009	M	0.71581	2.175	0.20638	N	0.99988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.986	T	0.44967	-0.9293	9	.	.	.	.	7.8451	0.29421	0.1842:0.0:0.0:0.8158	.	42;42;51	E9PD01;P28068;Q59F83	.;DMB_HUMAN;.	C	42;42;42;74	ENSP00000398890:Y42C;ENSP00000391010:Y42C;ENSP00000412457:Y74C	.	Y	-	2	0	XXbac-BPG181M17.5;HLA-DMB	33014651	0.428000	0.25522	0.052000	0.19188	0.834000	0.47266	1.301000	0.33447	0.894000	0.36317	0.519000	0.50382	TAC	HLA-DMB	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N	ENSG00000242574		0.527	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DMB	HGNC	protein_coding	OTTHUMT00000076340.2	-	0.00	77	0	T	NM_002118		32906673	-1	tier1	-	no_errors	ENST00000418107	ensembl	human	known	74_37	missense	72.22	15	39	SNP	0.273	C
HLTF	6596	genome.wustl.edu	37	3	148766718	148766718	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:148766718C>T	ENST00000310053.5	-	16	1881	c.1688G>A	c.(1687-1689)cGa>cAa	p.R563Q	HLTF_ENST00000392912.2_Missense_Mutation_p.R563Q|HLTF_ENST00000465259.1_Missense_Mutation_p.R562Q|HLTF_ENST00000494055.1_Missense_Mutation_p.R563Q	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	563	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R563Q(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATTTGGATTTCGTATGGCATG	0.343																																																	1	Substitution - Missense(1)	large_intestine(1)											170.0	153.0	159.0					3																	148766718		2203	4298	6501	SO:0001583	missense	0			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1688G>A	3.37:g.148766718C>T	ENSP00000308944:p.Arg563Gln		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R563Q	ENST00000310053.5	37	c.1688	CCDS33875.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.596569	0.96602	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.24	5.84	5.84	0.93424	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.97536	0.9193	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.993	D	0.97919	1.0313	9	0.72032	D	0.01	-8.38	18.9021	0.92446	0.0:1.0:0.0:0.0	.	563;563;563	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	Q	562;563;563;563;27	ENSP00000420745:R562Q;ENSP00000308944:R563Q;ENSP00000376644:R563Q;ENSP00000420429:R563Q;ENSP00000420106:R27Q	ENSP00000308944:R563Q	R	-	2	0	HLTF	150249408	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.842000	0.75379	2.751000	0.94390	0.655000	0.94253	CGA	HLTF	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000071794		0.343	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HLTF	HGNC	protein_coding	OTTHUMT00000356064.1	-	0.00	83	0	C			148766718	-1	tier1	-	no_errors	ENST00000310053	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
HMCN1	83872	genome.wustl.edu	37	1	185962483	185962483	+	Intron	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:185962483G>T	ENST00000271588.4	+	23	3734				HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGTGGACTGGCCACACAAAA	0.353																																																	0													44.0	44.0	44.0					1																	185962483		2202	4298	6500	SO:0001627	intron_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3505+42G>T	1.37:g.185962483G>T			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	RNA	SNP	-	NULL	ENST00000271588.4	37	NULL	CCDS30956.1	1																																																																																			HMCN1	-	-	ENSG00000143341		0.353	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	0.00	44	0	G	NM_031935		185962483	+1	tier1	-	no_errors	ENST00000485744	ensembl	human	known	74_37	rna	5.63	67	4	SNP	0.000	T
HMCN1	83872	genome.wustl.edu	37	1	186083133	186083133	+	Frame_Shift_Del	DEL	C	C	-	rs373652814		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:186083133delC	ENST00000271588.4	+	73	11383	c.11154delC	c.(11152-11154)ggcfs	p.G3718fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.G3718fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3718	Ig-like C2-type 36.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAAAGGGGGGCCCCCAGAGCC	0.413																																																	0													114.0	134.0	127.0					1																	186083133		2203	4300	6503	SO:0001589	frameshift_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11154delC	1.37:g.186083133delC	ENSP00000271588:p.Gly3718fs		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.Q3720fs	ENST00000271588.4	37	c.11154	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000143341		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0.00	48	0	C	NM_031935		186083133	+1	tier1		no_errors	ENST00000271588	ensembl	human	known	74_37	frame_shift_del	28.89	32	13	DEL	0.991	-
HLX	3142	genome.wustl.edu	37	1	221054587	221054587	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:221054587G>T	ENST00000366903.6	+	2	2145	c.644G>T	c.(643-645)gGc>gTc	p.G215V	HLX_ENST00000549319.1_5'UTR|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	215					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CACCTCTCAGGCCTGCAGCCC	0.567																																																	0													111.0	119.0	117.0					1																	221054587		2203	4300	6503	SO:0001583	missense	0			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.644G>T	1.37:g.221054587G>T	ENSP00000355870:p.Gly215Val		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.G215V	ENST00000366903.6	37	c.644	CCDS1527.1	1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877629	0.33162	.	.	ENSG00000136630	ENST00000366903	D	0.89939	-2.59	5.82	3.89	0.44902	.	0.434509	0.21712	N	0.070244	T	0.74076	0.3669	N	0.08118	0	0.58432	D	0.999999	B	0.30763	0.294	B	0.24974	0.057	T	0.69522	-0.5123	10	0.16420	T	0.52	-32.0027	10.6288	0.45523	0.0786:0.3487:0.5727:0.0	.	215	Q14774	HLX_HUMAN	V	215	ENSP00000355870:G215V	ENSP00000355870:G215V	G	+	2	0	HLX	219121210	0.993000	0.37304	0.963000	0.40424	0.462000	0.32619	0.552000	0.23376	1.459000	0.47892	0.561000	0.74099	GGC	HLX	-	NULL	ENSG00000136630		0.567	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLX	HGNC	protein_coding	OTTHUMT00000090902.3	-	0.00	70	0	G	NM_021958		221054587	+1	tier1	-	no_errors	ENST00000366903	ensembl	human	known	74_37	missense	6.52	85	6	SNP	0.765	T
HMGA1	3159	genome.wustl.edu	37	6	34211248	34211250	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	ACC	ACC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:34211248_34211250delACC	ENST00000447654.1	+	4	712_714	c.223_225delACC	c.(223-225)accdel	p.T78del	HMGA1_ENST00000401473.3_In_Frame_Del_p.T67del|HMGA1_ENST00000347617.6_In_Frame_Del_p.T67del|HMGA1_ENST00000478214.1_3'UTR|HMGA1_ENST00000374116.3_In_Frame_Del_p.T67del|HMGA1_ENST00000311487.5_In_Frame_Del_p.T78del|HMGA1_ENST00000395004.3_Intron	NM_145901.2|NM_145902.2	NP_665908.1|NP_665909.1	P17096	HMGA1_HUMAN	high mobility group AT-hook 1	78					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA unwinding involved in DNA replication (GO:0006268)|establishment of integrated proviral latency (GO:0075713)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chromatin silencing (GO:0031936)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|oncogene-induced cell senescence (GO:0090402)|positive regulation of cellular senescence (GO:2000774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			lung(1)	1						CCTCTAGAAAACCACCACAACTC	0.507			T	?	"""microfollicular thyroid adenoma,  various benign mesenchymal tumors,"""																																			Dom	yes		6	6p21	3159	high mobility group AT-hook 1		"""E, M"""	0																																										SO:0001651	inframe_deletion	0			AF176039	CCDS4788.1, CCDS4789.1	6p21	2011-07-01	2002-07-25	2002-07-26	ENSG00000137309	ENSG00000137309		"""High-mobility group / Canonical"""	5010	protein-coding gene	gene with protein product		600701	"""high-mobility group (nonhistone chromosomal) protein isoforms I and Y"""	HMGIY		8414980, 11406267	Standard	NM_145903		Approved		uc011dso.2	P17096	OTTHUMG00000014539	ENST00000447654.1:c.223_225delACC	6.37:g.34211251_34211253delACC	ENSP00000399888:p.Thr78del		P10910|Q5T6U9|Q9UKB0	In_Frame_Del	DEL	smart_AT_hook_DNA-bd_motif,prints_HMGI/HMGY,prints_AT_hook-like	p.T78in_frame_del	ENST00000447654.1	37	c.223_225	CCDS4789.1	6																																																																																			HMGA1	-	prints_HMGI/HMGY	ENSG00000137309		0.507	HMGA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGA1	HGNC	protein_coding	OTTHUMT00000040214.2		0.00	65	0	ACC	NM_145899		34211250	+1	tier1		no_errors	ENST00000311487	ensembl	human	known	74_37	in_frame_del	42.11	44	32	DEL	1.000:1.000:1.000	-
HMGB1	3146	genome.wustl.edu	37	13	31035515	31035515	+	Missense_Mutation	SNP	T	T	A	rs377691338		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:31035515T>A	ENST00000405805.1	-	5	1567	c.627A>T	c.(625-627)gaA>gaT	p.E209D	HMGB1_ENST00000339872.4_Missense_Mutation_p.E209D|HMGB1_ENST00000399494.1_Missense_Mutation_p.E209D|HMGB1_ENST00000468384.1_5'Flank|HMGB1_ENST00000399489.1_3'UTR|HMGB1_ENST00000341423.5_Missense_Mutation_p.E209D			P09429	HMGB1_HUMAN	high mobility group box 1	209	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CAtcatcttcttcttcatctt	0.383																																																	0								T	ASP/GLU	0,3780		0,0,1890	18.0	23.0	21.0		627	1.8	1.0	13		21	1,8251		0,1,4125	no	missense	HMGB1	NM_002128.4	45	0,1,6015	AA,AT,TT		0.0121,0.0,0.0083	benign	209/216	31035515	1,12031	1890	4126	6016	SO:0001583	missense	0			D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"""High-mobility group / Canonical"""	4983	protein-coding gene	gene with protein product	"""high mobility group box 1"", ""Sulfoglucuronyl carbohydrate binding protein"", ""Amphoterin"", ""high mobility group protein 1"""	163905	"""high-mobility group (nonhistone chromosomal) protein 1"", ""high-mobility group box 1"""	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.627A>T	13.37:g.31035515T>A	ENSP00000384678:p.Glu209Asp		A5D8W9|Q14321|Q5T7C3|Q6IBE1	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.E209D	ENST00000405805.1	37	c.627	CCDS9335.1	13	.	.	.	.	.	.	.	.	.	.	T	12.20	1.865437	0.32977	0.0	1.21E-4	ENSG00000189403	ENST00000405805;ENST00000339872;ENST00000341423;ENST00000399494	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.72	1.77	0.24775	Armadillo-like helical (1);	0.000000	0.44483	D	0.000444	T	0.40171	0.1106	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.13602	-1.0503	10	0.87932	D	0	.	4.1403	0.10189	0.257:0.1369:0.0:0.6061	.	170;209	B3KQ05;P09429	.;HMGB1_HUMAN	D	209	ENSP00000384678:E209D;ENSP00000343040:E209D;ENSP00000345347:E209D;ENSP00000382417:E209D	ENSP00000343040:E209D	E	-	3	2	HMGB1	29933515	0.984000	0.35163	1.000000	0.80357	0.997000	0.91878	0.047000	0.14056	0.069000	0.16605	0.519000	0.50382	GAA	HMGB1	-	NULL	ENSG00000189403		0.383	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGB1	HGNC	protein_coding	OTTHUMT00000303998.2	-	0.00	30	0	T	NM_002128		31035515	-1	tier1	-	no_errors	ENST00000339872	ensembl	human	known	74_37	missense	18.97	47	11	SNP	1.000	A
HMGB1	3146	genome.wustl.edu	37	13	31037600	31037600	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:31037600delT	ENST00000405805.1	-	2	1091				HMGB1_ENST00000339872.4_Intron|HMGB1_ENST00000326004.4_Intron|HMGB1_ENST00000399494.1_Intron|HMGB1_ENST00000468384.1_5'UTR|HMGB1_ENST00000399489.1_Intron|HMGB1_ENST00000341423.5_Intron			P09429	HMGB1_HUMAN	high mobility group box 1						apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dendritic cell chemotaxis (GO:0002407)|DNA ligation involved in DNA repair (GO:0051103)|DNA recombination (GO:0006310)|DNA topological change (GO:0006265)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|myeloid dendritic cell activation (GO:0001773)|negative regulation of apoptotic cell clearance (GO:2000426)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron projection development (GO:0031175)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|V(D)J recombination (GO:0033151)	cell surface (GO:0009986)|condensed chromosome (GO:0000793)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|damaged DNA binding (GO:0003684)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CCAACTAGGCTTTTTTTTGCA	0.348																																																	0																																										SO:0001627	intron_variant	0			D63874	CCDS9335.1	13q12	2011-07-01	2011-04-05	2002-08-16	ENSG00000189403	ENSG00000189403		"""High-mobility group / Canonical"""	4983	protein-coding gene	gene with protein product	"""high mobility group box 1"", ""Sulfoglucuronyl carbohydrate binding protein"", ""Amphoterin"", ""high mobility group protein 1"""	163905	"""high-mobility group (nonhistone chromosomal) protein 1"", ""high-mobility group box 1"""	HMG1		8661151, 11279268	Standard	NM_002128		Approved	HMG3, SBP-1, DKFZp686A04236	uc001usx.3	P09429	OTTHUMG00000016670	ENST00000405805.1:c.150+67A>-	13.37:g.31037600delT			A5D8W9|Q14321|Q5T7C3|Q6IBE1	RNA	DEL	-	NULL	ENST00000405805.1	37	NULL	CCDS9335.1	13																																																																																			HMGB1	-	-	ENSG00000189403		0.348	HMGB1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGB1	HGNC	protein_coding	OTTHUMT00000303998.2		0.00	44	0	T	NM_002128		31037600	-1	tier1		no_errors	ENST00000468384	ensembl	human	known	74_37	rna	30.88	47	21	DEL	0.001	-
HMGB2	3148	genome.wustl.edu	37	4	174254086	174254086	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:174254086G>A	ENST00000296503.5	-	4	1230	c.357C>T	c.(355-357)ggC>ggT	p.G119G	HMGB2_ENST00000438704.2_Silent_p.G119G|HMGB2_ENST00000446922.2_Silent_p.G119G			P26583	HMGB2_HUMAN	high mobility group box 2	119					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CAATGGATAGGCCAGGGTGTT	0.418																																																	0													144.0	150.0	148.0					4																	174254086		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.357C>T	4.37:g.174254086G>A			B2R4K8|D3DP37|Q5U072	Silent	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.G119	ENST00000296503.5	37	c.357	CCDS3816.1	4																																																																																			HMGB2	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000164104		0.418	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGB2	HGNC	protein_coding	OTTHUMT00000362362.1	-	0.00	53	0	G	NM_001130688		174254086	-1	tier1	-	no_errors	ENST00000296503	ensembl	human	known	74_37	silent	28.99	49	20	SNP	0.942	A
HMGN2P46	283651	genome.wustl.edu	37	15	45848231	45848234	+	lincRNA	DEL	TTTT	TTTT	-	rs372861121|rs368577527		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:45848231_45848234delTTTT	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TTTGTTTAGCTTTTTTTTTTTTTT	0.324																																																	0																																												0																															15.37:g.45848239_45848242delTTTT				RNA	DEL	-	NULL	ENST00000557965.1	37	NULL		15																																																																																			HMGN2P46	-	-	ENSG00000179362		0.324	RP11-96O20.2-001	KNOWN	basic	lincRNA	HMGN2P46	HGNC	lincRNA	OTTHUMT00000416553.1		0.00	14	0	TTTT			45848234	+1	tier1		no_errors	ENST00000313559	ensembl	human	known	74_37	rna	42.86	16	12	DEL	0.997:0.996:0.997:0.996	-
HMHA1	23526	genome.wustl.edu	37	19	1080107	1080107	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:1080107G>A	ENST00000313093.2	+	13	1924	c.1693G>A	c.(1693-1695)Gcc>Acc	p.A565T	HMHA1_ENST00000586866.1_Missense_Mutation_p.A569T|HMHA1_ENST00000536472.1_Missense_Mutation_p.A405T|HMHA1_ENST00000590577.1_Missense_Mutation_p.A200T|HMHA1_ENST00000539243.2_Missense_Mutation_p.A581T|HMHA1_ENST00000590214.1_Missense_Mutation_p.A592T|HMHA1_ENST00000543365.1_Missense_Mutation_p.A448T	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	565					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGTCTCCGCCAACGCCTG	0.672																																																	0													38.0	39.0	39.0					19																	1080107		2203	4300	6503	SO:0001583	missense	0			D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1693G>A	19.37:g.1080107G>A	ENSP00000316772:p.Ala565Thr		B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.A565T	ENST00000313093.2	37	c.1693	CCDS32863.1	19	.	.	.	.	.	.	.	.	.	.	G	8.488	0.861463	0.17178	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.20881	2.08;2.07;2.1;2.04	3.97	-4.39	0.03611	.	1.344650	0.04792	N	0.431889	T	0.11153	0.0272	N	0.22421	0.69	0.09310	N	0.999999	B;B;B;B;B	0.16166	0.016;0.006;0.003;0.007;0.002	B;B;B;B;B	0.11329	0.006;0.003;0.002;0.004;0.001	T	0.31971	-0.9924	10	0.12430	T	0.62	-4.5653	5.8431	0.18645	0.5186:0.2546:0.2268:0.0	.	405;581;200;448;565	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	T	581;565;565;405;559;448	ENSP00000439601:A581T;ENSP00000316772:A565T;ENSP00000445109:A405T;ENSP00000438979:A448T	ENSP00000316772:A565T	A	+	1	0	HMHA1	1031107	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.085000	0.11250	-0.493000	0.06678	-0.258000	0.10820	GCC	HMHA1	-	NULL	ENSG00000180448		0.672	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMHA1	HGNC	protein_coding	OTTHUMT00000458026.1	-	0.00	52	0	G			1080107	+1	tier1	-	no_errors	ENST00000313093	ensembl	human	known	74_37	missense	37.25	32	19	SNP	0.000	A
HMOX1	3162	genome.wustl.edu	37	22	35782901	35782901	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:35782901G>A	ENST00000216117.8	+	3	707	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	123					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	GAGGTGGGGCGCACAGAGCCC	0.657																																																	0													39.0	44.0	42.0					22																	35782901		2203	4300	6503	SO:0001583	missense	0				CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.368G>A	22.37:g.35782901G>A	ENSP00000216117:p.Arg123His			Missense_Mutation	SNP	pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase	p.R123H	ENST00000216117.8	37	c.368	CCDS13914.1	22	.	.	.	.	.	.	.	.	.	.	G	9.854	1.194386	0.22037	.	.	ENSG00000100292	ENST00000412893;ENST00000216117	T;T	0.24538	1.85;1.85	5.8	-3.01	0.05463	Haem oxygenase-like, multi-helical (2);	0.546000	0.20571	N	0.089734	T	0.22205	0.0535	M	0.73962	2.25	0.09310	N	1	B	0.18610	0.029	B	0.16289	0.015	T	0.21177	-1.0253	10	0.54805	T	0.06	-3.8131	5.3406	0.15981	0.5024:0.0:0.2699:0.2277	.	123	P09601	HMOX1_HUMAN	H	123	ENSP00000413316:R123H;ENSP00000216117:R123H	ENSP00000216117:R123H	R	+	2	0	HMOX1	34112901	0.004000	0.15560	0.006000	0.13384	0.024000	0.10985	0.327000	0.19663	-0.373000	0.07979	-0.137000	0.14449	CGC	HMOX1	-	pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase	ENSG00000100292		0.657	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMOX1	HGNC	protein_coding	OTTHUMT00000320657.1	-	0.00	53	0	G			35782901	+1	tier1	-	no_errors	ENST00000216117	ensembl	human	known	74_37	missense	33.33	20	10	SNP	0.000	A
HMX2	3167	genome.wustl.edu	37	10	124907930	124907930	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:124907930G>A	ENST00000339992.3	+	1	293	c.36G>A	c.(34-36)ccG>ccA	p.P12P		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	12					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AGGGGTGTCCGGCGGCCGGTG	0.637																																																	0													39.0	52.0	48.0					10																	124907930		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"""Homeoboxes / ANTP class : NKL subclass"""	5018	protein-coding gene	gene with protein product		600647	"""homeo box (H6 family) 2"""			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.36G>A	10.37:g.124907930G>A			B2RNV5	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.P12	ENST00000339992.3	37	c.36	CCDS31305.1	10																																																																																			HMX2	-	NULL	ENSG00000188816		0.637	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMX2	HGNC	protein_coding	OTTHUMT00000050841.1	-	0.00	96	0	G	XM_370580		124907930	+1	tier1	-	no_errors	ENST00000339992	ensembl	human	known	74_37	silent	53.52	33	38	SNP	0.963	A
HNRNPCL1	343069	genome.wustl.edu	37	1	12908012	12908012	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:12908012G>A	ENST00000317869.6	-	2	356	c.131C>T	c.(130-132)gCg>gTg	p.A44V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	44	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AGAGCAGCCCGCAATTTTGCC	0.478																																																	0													119.0	114.0	116.0					1																	12908012		2203	4300	6503	SO:0001583	missense	0			BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.131C>T	1.37:g.12908012G>A	ENSP00000365370:p.Ala44Val		B2RP44	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.A44V	ENST00000317869.6	37	c.131	CCDS30591.1	1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.482813	0.01027	.	.	ENSG00000179172	ENST00000317869	T	0.14516	2.5	1.09	-2.18	0.07037	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.098980	0.39146	N	0.001449	T	0.03220	0.0094	N	0.04090	-0.28	0.25154	N	0.990402	B	0.02656	0.0	B	0.06405	0.002	T	0.34179	-0.9839	10	0.02654	T	1	.	2.1978	0.03916	0.5515:0.0:0.202:0.2465	.	44	O60812	HNRCL_HUMAN	V	44	ENSP00000365370:A44V	ENSP00000365370:A44V	A	-	2	0	HNRNPCL1	12830599	1.000000	0.71417	0.037000	0.18230	0.019000	0.09904	4.522000	0.60539	-0.874000	0.04027	-0.482000	0.04802	GCG	HNRNPCL1	-	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	ENSG00000179172		0.478	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPCL1	HGNC	protein_coding	OTTHUMT00000005462.1	-	0.00	309	0	G	NM_001013631		12908012	-1	tier1	-	no_errors	ENST00000317869	ensembl	human	known	74_37	missense	9.09	240	24	SNP	1.000	A
HNRNPKP3	399881	genome.wustl.edu	37	11	43283606	43283607	+	RNA	DEL	AA	AA	-	rs377012965		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:43283606_43283607delAA	ENST00000511537.1	-	0	1328_1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAAA	0.386																																																	0																																												0					11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283616_43283617delAA				RNA	DEL	-	NULL	ENST00000511537.1	37	NULL		11																																																																																			HNRNPKP3	-	-	ENSG00000251557		0.386	HNRNPKP3-003	KNOWN	basic	processed_transcript	HNRNPKP3	HGNC	pseudogene	OTTHUMT00000390385.1		0.00	8	0	AA	NR_033868		43283607	-1	tier1		no_errors	ENST00000511537	ensembl	human	known	74_37	rna	50.00	3	3	DEL	0.986:0.995	-
HNRNPM	4670	genome.wustl.edu	37	19	8550769	8550769	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:8550769T>C	ENST00000325495.4	+	14	1498	c.1457T>C	c.(1456-1458)aTg>aCg	p.M486T	HNRNPM_ENST00000348943.3_Missense_Mutation_p.M447T	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	486	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GTGGAGCGCATGGGTGCCGGC	0.682																																																	0													50.0	51.0	51.0					19																	8550769		2200	4297	6497	SO:0001583	missense	0			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1457T>C	19.37:g.8550769T>C	ENSP00000325376:p.Met486Thr		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom	p.M486T	ENST00000325495.4	37	c.1457	CCDS12203.1	19	.	.	.	.	.	.	.	.	.	.	T	16.59	3.165715	0.57476	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.15487	2.42;2.74	5.5	5.5	0.81552	.	0.037214	0.85682	D	0.000000	T	0.40222	0.1108	M	0.80183	2.485	0.58432	D	0.999998	P;B;D;P	0.56968	0.956;0.03;0.978;0.932	P;B;P;P	0.58391	0.549;0.014;0.647;0.838	T	0.39522	-0.9610	10	0.87932	D	0	.	14.4273	0.67225	0.0:0.0:0.0:1.0	.	326;486;447;371	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	T	486;447;371;43	ENSP00000325376:M486T;ENSP00000325732:M447T	ENSP00000325376:M486T	M	+	2	0	HNRNPM	8456769	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	5.925000	0.70062	2.082000	0.62665	0.402000	0.26972	ATG	HNRNPM	-	NULL	ENSG00000099783		0.682	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPM	HGNC	protein_coding	OTTHUMT00000460894.1	-	0.00	28	0	T			8550769	+1	tier1	-	no_errors	ENST00000325495	ensembl	human	known	74_37	missense	29.17	17	7	SNP	1.000	C
HNRNPUL1	11100	genome.wustl.edu	37	19	41808818	41808818	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:41808818delG	ENST00000392006.3	+	12	2109	c.1936delG	c.(1936-1938)gggfs	p.G648fs	HNRNPUL1_ENST00000593587.1_Frame_Shift_Del_p.G548fs|HNRNPUL1_ENST00000263367.3_Frame_Shift_Del_p.G559fs|HNRNPUL1_ENST00000602130.1_Frame_Shift_Del_p.G648fs|HNRNPUL1_ENST00000595018.1_Frame_Shift_Del_p.G548fs|HNRNPUL1_ENST00000352456.3_Frame_Shift_Del_p.G548fs|HNRNPUL1_ENST00000378215.4_Frame_Shift_Del_p.G534fs	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	648	5 X 3 AA repeats of R-G-G.|Gly-rich.|Necessary for interaction with TP53.|Necessary for transcription repression.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCAGAACCGAGGGGGAGGCAG	0.642																																																	0													36.0	42.0	40.0					19																	41808818		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1936delG	19.37:g.41808818delG	ENSP00000375863:p.Gly648fs		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Frame_Shift_Del	DEL	pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom	p.G647fs	ENST00000392006.3	37	c.1936	CCDS12576.1	19																																																																																			HNRNPUL1	-	NULL	ENSG00000105323		0.642	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	HGNC	protein_coding	OTTHUMT00000463406.1		0.00	24	0	G	NM_144732, NM_007040		41808818	+1	tier1		no_errors	ENST00000392006	ensembl	human	known	74_37	frame_shift_del	37.50	10	6	DEL	0.979	-
HOMEZ	57594	genome.wustl.edu	37	14	23745310	23745310	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:23745310delA	ENST00000357460.5	-	2	1291	c.1127delT	c.(1126-1128)ttafs	p.L376fs	HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.L378fs|HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.L378fs	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L376fs*14(1)		endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CTGGCACTGTAAAAAAAAGGA	0.488																																																	1	Deletion - Frameshift(1)	large_intestine(1)											112.0	119.0	116.0					14																	23745310		1948	4135	6083	SO:0001589	frameshift_variant	0			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1127delT	14.37:g.23745310delA	ENSP00000350049:p.Leu376fs		A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Frame_Shift_Del	DEL	superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.L378fs	ENST00000357460.5	37	c.1133	CCDS45085.1	14																																																																																			HOMEZ	-	superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000215271		0.488	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HOMEZ	HGNC	protein_coding	OTTHUMT00000416939.2		0.00	76	0	A	NM_020834		23745310	-1	tier1		no_errors	ENST00000431326	ensembl	human	known	74_37	frame_shift_del	35.65	74	41	DEL	1.000	-
HOOK3	84376	genome.wustl.edu	37	8	42814435	42814435	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:42814435G>A	ENST00000307602.4	+	8	793	c.593G>A	c.(592-594)aGa>aAa	p.R198K		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	198					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			ATTGCTCAAAGATGCCATGAA	0.368			T	RET	papillary thyroid																																			Dom	yes		8	8p11.21	84376	hook homolog 3		E	0													121.0	120.0	120.0					8																	42814435		2203	4300	6503	SO:0001583	missense	0			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.593G>A	8.37:g.42814435G>A	ENSP00000305699:p.Arg198Lys		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_t-SNARE	p.R198K	ENST00000307602.4	37	c.593	CCDS6139.1	8	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364039	0.82353	.	.	ENSG00000168172	ENST00000307602	T	0.18174	2.23	5.7	5.7	0.88788	.	0.047152	0.85682	D	0.000000	T	0.31734	0.0806	L	0.33137	0.985	0.46542	D	0.999097	D;D	0.76494	0.999;0.965	D;P	0.77557	0.99;0.846	T	0.01545	-1.1328	10	0.19590	T	0.45	-5.8678	19.4515	0.94869	0.0:0.0:1.0:0.0	.	198;198	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	K	198	ENSP00000305699:R198K	ENSP00000305699:R198K	R	+	2	0	HOOK3	42933592	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.409000	0.97331	2.683000	0.91414	0.655000	0.94253	AGA	HOOK3	-	pfam_Hook-related_fam	ENSG00000168172		0.368	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK3	HGNC	protein_coding	OTTHUMT00000383172.2	-	0.00	21	0	G	NM_032410		42814435	+1	tier1	-	no_errors	ENST00000307602	ensembl	human	known	74_37	missense	20.59	27	7	SNP	1.000	A
HOXA7	3204	genome.wustl.edu	37	7	27193435	27193435	+	3'UTR	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:27193435A>G	ENST00000242159.3	-	0	1919				RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000524304.1_RNA|HOXA7_ENST00000523796.2_5'Flank|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7						angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						TGAGCAGGGTACAGGACAACA	0.502																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.*1093T>C	7.37:g.27193435A>G			A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	RNA	SNP	-	NULL	ENST00000242159.3	37	NULL	CCDS5408.1	7																																																																																			HOXA-AS3	-	-	ENSG00000254369		0.502	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA-AS3	HGNC	protein_coding	OTTHUMT00000358695.1	-	0.00	54	0	A			27193435	+1	tier1	-	no_errors	ENST00000518947	ensembl	human	known	74_37	rna	46.67	32	28	SNP	0.036	G
HOXA7	3204	genome.wustl.edu	37	7	27194267	27194267	+	3'UTR	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:27194267delG	ENST00000242159.3	-	0	1087				RP1-170O19.23_ENST00000498652.1_RNA|HOXA-AS3_ENST00000524304.1_RNA|HOXA7_ENST00000523796.2_5'Flank|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7						angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GCCTGGGGTTGGGGGTGTCTT	0.617																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.*261C>-	7.37:g.27194267delG			A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	RNA	DEL	-	NULL	ENST00000242159.3	37	NULL	CCDS5408.1	7																																																																																			HOXA-AS3	-	-	ENSG00000254369		0.617	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA-AS3	HGNC	protein_coding	OTTHUMT00000358695.1		0.00	36	0	G			27194267	+1	tier1		no_errors	ENST00000518947	ensembl	human	known	74_37	rna	21.05	30	8	DEL	0.000	-
HOXD8	3234	genome.wustl.edu	37	2	176995458	176995458	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:176995458C>T	ENST00000313173.4	+	1	991	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	HOXD8_ENST00000544999.1_Missense_Mutation_p.P122S|HOXD8_ENST00000450510.2_Missense_Mutation_p.P122S|HOXD8_ENST00000429017.1_Intron|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Intron	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	122	Poly-Pro.				anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		gccgccacctcccccCTGCGG	0.687																																																	0													57.0	71.0	67.0					2																	176995458		2097	4117	6214	SO:0001583	missense	0				CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.364C>T	2.37:g.176995458C>T	ENSP00000315949:p.Pro122Ser		F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.P122S	ENST00000313173.4	37	c.364	CCDS2268.1	2	.	.	.	.	.	.	.	.	.	.	C	7.771	0.707366	0.15239	.	.	ENSG00000175879	ENST00000313173;ENST00000544999;ENST00000450510	T;T;T	0.40756	1.02;1.02;1.02	4.27	4.27	0.50696	.	0.224065	0.30791	N	0.008868	T	0.20577	0.0495	N	0.08118	0	0.28979	N	0.888767	P;P	0.47762	0.9;0.9	B;B	0.43754	0.43;0.43	T	0.07751	-1.0756	10	0.07813	T	0.8	.	8.5169	0.33250	0.0:0.8901:0.0:0.1099	.	122;122	Q8IXZ1;P13378	.;HXD8_HUMAN	S	122	ENSP00000315949:P122S;ENSP00000437431:P122S;ENSP00000409026:P122S	ENSP00000315949:P122S	P	+	1	0	HOXD8	176703704	0.016000	0.18221	1.000000	0.80357	0.995000	0.86356	-0.432000	0.06956	2.069000	0.61940	0.643000	0.83706	CCC	HOXD8	-	NULL	ENSG00000175879		0.687	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HOXD8	HGNC	protein_coding	OTTHUMT00000255694.1		0.00	17	0	C			176995458	+1			no_errors	ENST00000313173	ensembl	human	known	74_37	missense	22.22	4	2	SNP	1.000	T
HOXD8	3234	genome.wustl.edu	37	2	176995458	176995458	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:176995458delC	ENST00000313173.4	+	1	991	c.364delC	c.(364-366)cccfs	p.P123fs	HOXD8_ENST00000544999.1_Frame_Shift_Del_p.P123fs|HOXD8_ENST00000450510.2_Frame_Shift_Del_p.P123fs|HOXD8_ENST00000429017.1_Intron|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Intron	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	123	Poly-Pro.				anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		gccgccacctcccccCTGCGG	0.687																																																	0													57.0	71.0	67.0					2																	176995458		2097	4117	6214	SO:0001589	frameshift_variant	0				CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.364delC	2.37:g.176995458delC	ENSP00000315949:p.Pro123fs		F8WBG7|Q5BL00|Q8IXZ1	Frame_Shift_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom	p.C124fs	ENST00000313173.4	37	c.364	CCDS2268.1	2																																																																																			HOXD8	-	NULL	ENSG00000175879		0.687	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HOXD8	HGNC	protein_coding	OTTHUMT00000255694.1		0.00	17	0	C			176995458	+1	tier1		no_errors	ENST00000313173	ensembl	human	known	74_37	frame_shift_del	33.33	6	3	DEL	1.000	-
HP1BP3	50809	genome.wustl.edu	37	1	21106855	21106855	+	Missense_Mutation	SNP	C	C	T	rs142958960		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:21106855C>T	ENST00000312239.5	-	2	218	c.79G>A	c.(79-81)Gcg>Acg	p.A27T	HP1BP3_ENST00000487117.1_5'UTR|HP1BP3_ENST00000375000.1_Missense_Mutation_p.A27T	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	27					nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		AACTTGTCCGCGTGGATCAGC	0.498																																																	0								C	THR/ALA	0,4406		0,0,2203	129.0	101.0	111.0		79	3.8	1.0	1	dbSNP_134	111	5,8595	3.7+/-12.6	0,5,4295	yes	missense	HP1BP3	NM_016287.3	58	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	27/554	21106855	5,13001	2203	4300	6503	SO:0001583	missense	0			BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.79G>A	1.37:g.21106855C>T	ENSP00000312625:p.Ala27Thr		A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15	p.A27T	ENST00000312239.5	37	c.79	CCDS30621.1	1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823725	0.50739	0.0	5.81E-4	ENSG00000127483	ENST00000312239;ENST00000438032;ENST00000417710;ENST00000375000;ENST00000414993	T;T	0.46451	0.87;1.82	5.71	3.83	0.44106	.	0.197995	0.35936	N	0.002892	T	0.19805	0.0476	N	0.12182	0.205	0.28411	N	0.918161	B;B	0.12013	0.005;0.002	B;B	0.12837	0.008;0.001	T	0.09335	-1.0679	10	0.30078	T	0.28	-4.3957	2.4719	0.04566	0.1558:0.5277:0.1505:0.166	.	27;27	Q5SSJ5-5;Q5SSJ5	.;HP1B3_HUMAN	T	27	ENSP00000312625:A27T;ENSP00000403039:A27T	ENSP00000312625:A27T	A	-	1	0	HP1BP3	20979442	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.337000	0.19841	0.749000	0.32854	-0.188000	0.12872	GCG	HP1BP3	-	NULL	ENSG00000127483		0.498	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HP1BP3	HGNC	protein_coding	OTTHUMT00000007457.2	-	0.00	61	0	C	NM_016287		21106855	-1	tier1	rs142958960	no_errors	ENST00000312239	ensembl	human	known	74_37	missense	39.74	45	31	SNP	1.000	T
HPCAL4	51440	genome.wustl.edu	37	1	40148347	40148347	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:40148347G>A	ENST00000372844.3	-	4	828	c.437C>T	c.(436-438)aCg>aTg	p.T146M		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	146	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGCTGGGGCGTGAGCCCGTC	0.557																																																	0													129.0	111.0	117.0					1																	40148347		2203	4300	6503	SO:0001583	missense	0			AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"""EF-hand domain containing"""	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.437C>T	1.37:g.40148347G>A	ENSP00000361935:p.Thr146Met		B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.T146M	ENST00000372844.3	37	c.437	CCDS441.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656759	0.88154	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.71934	-0.61	4.77	4.77	0.60923	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84777	0.5547	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.982	D;P	0.97110	1.0;0.737	D	0.86811	0.1998	10	0.87932	D	0	.	18.684	0.91557	0.0:0.0:1.0:0.0	.	74;146	B4DGW9;Q9UM19	.;HPCL4_HUMAN	M	146;138	ENSP00000361935:T146M	ENSP00000361935:T146M	T	-	2	0	HPCAL4	39920934	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	9.656000	0.98514	2.595000	0.87683	0.462000	0.41574	ACG	HPCAL4	-	pfscan_EF_hand_dom,prints_Recoverin	ENSG00000116983		0.557	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCAL4	HGNC	protein_coding	OTTHUMT00000025640.1	-	0.00	45	0	G	NM_016257		40148347	-1	tier1	-	no_errors	ENST00000372844	ensembl	human	known	74_37	missense	43.90	23	18	SNP	1.000	A
HPCAL4	51440	genome.wustl.edu	37	1	40150207	40150207	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:40150207G>T	ENST00000372844.3	-	2	460	c.69C>A	c.(67-69)agC>agA	p.S23R		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	23					central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCTCCTGCTCGCTGAACTCAG	0.607																																																	0													73.0	62.0	66.0					1																	40150207		2203	4300	6503	SO:0001583	missense	0			AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"""EF-hand domain containing"""	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.69C>A	1.37:g.40150207G>T	ENSP00000361935:p.Ser23Arg		B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.S23R	ENST00000372844.3	37	c.69	CCDS441.1	1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.546841	0.45383	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	T	0.21932	1.98	4.4	2.46	0.29980	EF-hand-like domain (1);	0.048975	0.85682	D	0.000000	T	0.23572	0.0570	M	0.73430	2.235	0.50171	D	0.999851	B;P	0.41710	0.069;0.76	B;B	0.39935	0.025;0.314	T	0.03060	-1.1077	10	0.87932	D	0	.	7.4637	0.27310	0.361:0.0:0.639:0.0	.	23;23	B4DGW9;Q9UM19	.;HPCL4_HUMAN	R	23	ENSP00000361935:S23R	ENSP00000361935:S23R	S	-	3	2	HPCAL4	39922794	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.330000	0.19715	0.525000	0.28522	0.561000	0.74099	AGC	HPCAL4	-	prints_Recoverin	ENSG00000116983		0.607	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCAL4	HGNC	protein_coding	OTTHUMT00000025640.1	-	0.00	72	0	G	NM_016257		40150207	-1	tier1	-	no_errors	ENST00000372844	ensembl	human	known	74_37	missense	9.84	55	6	SNP	1.000	T
HPDL	84842	genome.wustl.edu	37	1	45793177	45793177	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:45793177C>T	ENST00000334815.3	+	1	633	c.357C>T	c.(355-357)gcC>gcT	p.A119A		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	119					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					CCACTTACGCCGTGGTCAGCT	0.731																																																	0													12.0	11.0	11.0					1																	45793177		2174	4263	6437	SO:0001819	synonymous_variant	0			BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"""glyoxalase domain containing 1"""	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.357C>T	1.37:g.45793177C>T			B2R9B0	Silent	SNP	pirsf_4OHPhenylPyrv_dOase	p.A119	ENST00000334815.3	37	c.357	CCDS519.1	1																																																																																			HPDL	-	pirsf_4OHPhenylPyrv_dOase	ENSG00000186603		0.731	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPDL	HGNC	protein_coding	OTTHUMT00000020527.1		0.00	20	0	C	NM_032756		45793177	+1			no_errors	ENST00000334815	ensembl	human	known	74_37	silent	21.43	11	3	SNP	0.055	T
HPS6	79803	genome.wustl.edu	37	10	103826768	103826768	+	Missense_Mutation	SNP	C	C	A	rs143026366		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:103826768C>A	ENST00000299238.5	+	1	1622	c.1537C>A	c.(1537-1539)Ctt>Att	p.L513I		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	513					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TTTCCAAGCCCTTCCTACAGC	0.607									Hermansky-Pudlak syndrome																																								0													55.0	58.0	57.0					10																	103826768		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1537C>A	10.37:g.103826768C>A	ENSP00000299238:p.Leu513Ile		Q5VV69|Q9H685	Missense_Mutation	SNP	pirsf_BLOC-2_complex_Hps6_subunit	p.L513I	ENST00000299238.5	37	c.1537	CCDS7527.1	10	.	.	.	.	.	.	.	.	.	.	C	6.721	0.501833	0.12822	.	.	ENSG00000166189	ENST00000299238	T	0.79454	-1.27	4.79	-0.651	0.11454	.	0.119187	0.56097	D	0.000023	T	0.63733	0.2536	L	0.44542	1.39	0.22050	N	0.999394	B	0.17268	0.021	B	0.17979	0.02	T	0.54377	-0.8303	10	0.56958	D	0.05	-3.5023	4.6745	0.12705	0.0:0.262:0.18:0.558	.	513	Q86YV9	HPS6_HUMAN	I	513	ENSP00000299238:L513I	ENSP00000299238:L513I	L	+	1	0	HPS6	103816758	0.964000	0.33143	0.052000	0.19188	0.479000	0.33129	1.870000	0.39529	0.005000	0.14708	-0.215000	0.12644	CTT	HPS6	-	pirsf_BLOC-2_complex_Hps6_subunit	ENSG00000166189		0.607	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS6	HGNC	protein_coding	OTTHUMT00000050018.2	-	0.00	56	0	C	NM_024747		103826768	+1	tier1	-	no_errors	ENST00000299238	ensembl	human	known	74_37	missense	30.43	32	14	SNP	0.292	A
HPX	3263	genome.wustl.edu	37	11	6461398	6461398	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:6461398G>T	ENST00000265983.3	-	4	433	c.333C>A	c.(331-333)atC>atA	p.I111I	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	111					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GCAGTACCTTGATCAGAAAGA	0.537																																																	0													105.0	93.0	97.0					11																	6461398		2201	4296	6497	SO:0001819	synonymous_variant	0			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.333C>A	11.37:g.6461398G>T			B2R957	Silent	SNP	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata	p.I111	ENST00000265983.3	37	c.333	CCDS7763.1	11																																																																																			HPX	-	pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata	ENSG00000110169		0.537	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPX	HGNC	protein_coding	OTTHUMT00000257256.1	-	0.00	68	0	G	NM_000613		6461398	-1	tier1	-	no_errors	ENST00000265983	ensembl	human	known	74_37	silent	8.33	44	4	SNP	0.999	T
HRH4	59340	genome.wustl.edu	37	18	22057444	22057444	+	Missense_Mutation	SNP	G	G	A	rs149820026		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:22057444G>A	ENST00000256906.4	+	3	1191	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	HRH4_ENST00000426880.2_Missense_Mutation_p.R276H	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	364					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	TGTCACAAGCGCTTTCAAAAG	0.368																																																	0								G	HIS/ARG,,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	118.0	123.0	121.0		827,,1091	-0.8	0.7	18	dbSNP_134	121	0,8600		0,0,4300	no	missense,utr-3,missense	HRH4	NM_001143828.1,NM_001160166.1,NM_021624.3	29,,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,,benign	276/303,,364/391	22057444	1,13005	2203	4300	6503	SO:0001583	missense	0			AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.1091G>A	18.37:g.22057444G>A	ENSP00000256906:p.Arg364His		B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt,prints_GPCR_Rhodpsn	p.R364H	ENST00000256906.4	37	c.1091	CCDS11887.1	18	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207936	0.39003	2.27E-4	0.0	ENSG00000134489	ENST00000256906;ENST00000426880	T;T	0.37915	1.17;1.17	6.02	-0.793	0.10922	.	0.281498	0.31092	N	0.008279	T	0.23370	0.0565	L	0.28192	0.835	0.24115	N	0.995826	B;B	0.17465	0.022;0.016	B;B	0.11329	0.003;0.006	T	0.20840	-1.0263	10	0.52906	T	0.07	-1.1042	11.8185	0.52224	0.5068:0.0:0.4932:0.0	.	276;364	B2KJ48;Q9H3N8	.;HRH4_HUMAN	H	364;276	ENSP00000256906:R364H;ENSP00000402526:R276H	ENSP00000256906:R364H	R	+	2	0	HRH4	20311442	0.002000	0.14202	0.672000	0.29872	0.794000	0.44872	0.781000	0.26774	-0.196000	0.10366	-0.142000	0.14014	CGC	HRH4	-	prints_Histamine_H4_rcpt,prints_GPCR_Rhodpsn	ENSG00000134489		0.368	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH4	HGNC	protein_coding	OTTHUMT00000254904.1	-	0.00	58	0	G			22057444	+1	tier1	rs149820026	no_errors	ENST00000256906	ensembl	human	known	74_37	missense	37.29	37	22	SNP	0.374	A
HRNR	388697	genome.wustl.edu	37	1	152187631	152187631	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152187631G>A	ENST00000368801.2	-	3	6549	c.6474C>T	c.(6472-6474)cgC>cgT	p.R2158R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2158					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGACCATAGCGGGAAGACG	0.612																																																	0													341.0	384.0	369.0					1																	152187631		2199	4280	6479	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6474C>T	1.37:g.152187631G>A			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R2158	ENST00000368801.2	37	c.6474	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.612	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0.00	430	0	G	XM_373868		152187631	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	5.68	413	25	SNP	0.003	A
HRNR	388697	genome.wustl.edu	37	1	152189041	152189041	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152189041G>A	ENST00000368801.2	-	3	5139	c.5064C>T	c.(5062-5064)cgC>cgT	p.R1688R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1688					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGACCATAGCGGGAAGACG	0.617																																																	0													69.0	73.0	71.0					1																	152189041		1651	3215	4866	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5064C>T	1.37:g.152189041G>A			Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R1688	ENST00000368801.2	37	c.5064	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0.00	80	0	G	XM_373868		152189041	-1	tier1	-	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	11.76	60	8	SNP	0.003	A
HRNR	388697	genome.wustl.edu	37	1	152192466	152192466	+	Nonsense_Mutation	SNP	G	G	A	rs142288299		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152192466G>A	ENST00000368801.2	-	3	1714	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	547					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R547*(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTCATGTCGGCCACGGCTA	0.587																																																	2	Substitution - Nonsense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)						G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	147.0	156.0	153.0		1639	1.7	0.0	1	dbSNP_134	153	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	HRNR	NM_001009931.1		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		547/2851	152192466	3,13003	2203	4300	6503	SO:0001587	stop_gained	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1639C>T	1.37:g.152192466G>A	ENSP00000357791:p.Arg547*		Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R547*	ENST00000368801.2	37	c.1639	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648708	0.87958	2.27E-4	2.33E-4	ENSG00000197915	ENST00000368801	.	.	.	2.72	1.73	0.24493	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	6.7027	0.23234	0.0:0.0:0.7188:0.2812	.	.	.	.	X	547	.	ENSP00000357791:R547X	R	-	1	2	HRNR	150459090	0.001000	0.12720	0.002000	0.10522	0.008000	0.06430	0.731000	0.26058	0.440000	0.26502	0.549000	0.68633	CGA	HRNR	-	NULL	ENSG00000197915		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	-	0.00	154	0	G	XM_373868		152192466	-1	tier1	rs142288299	no_errors	ENST00000368801	ensembl	human	known	74_37	nonsense	36.09	85	48	SNP	0.004	A
HSD17B1	3292	genome.wustl.edu	37	17	40706467	40706469	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:40706467_40706469delAGA	ENST00000585807.1	+	5	4304_4306	c.584_586delAGA	c.(583-588)gagaag>gag	p.K196del	RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_In_Frame_Del_p.K197del|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	196					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GCCTTCATGGAGAAGGTGTTGGG	0.645																																																	0																																										SO:0001651	inframe_deletion	0				CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.584_586delAGA	17.37:g.40706467_40706469delAGA	ENSP00000466799:p.Lys196del		B3KXS1|Q2M2L8	In_Frame_Del	DEL	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR	p.K196in_frame_del	ENST00000585807.1	37	c.584_586	CCDS11428.1	17																																																																																			HSD17B1	-	pirsf_17beta_DH	ENSG00000108786		0.645	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD17B1	HGNC	protein_coding	OTTHUMT00000450392.1		0.00	72	0	AGA	NM_000413		40706469	+1	tier1		no_errors	ENST00000585807	ensembl	human	known	74_37	in_frame_del	33.33	40	20	DEL	0.189:0.353:0.739	-
HSD17B4	3295	genome.wustl.edu	37	5	118809676	118809678	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:118809676_118809678delAAG	ENST00000256216.6	+	3	319_321	c.186_188delAAG	c.(184-189)ataaga>ata	p.R65del	HSD17B4_ENST00000515320.1_In_Frame_Del_p.R47del|HSD17B4_ENST00000414835.2_5'UTR|HSD17B4_ENST00000513628.1_5'Flank|HSD17B4_ENST00000510025.1_In_Frame_Del_p.R41del|HSD17B4_ENST00000509514.1_5'Flank|HSD17B4_ENST00000504811.1_In_Frame_Del_p.R90del	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	65	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TTGAAGAAATAAGAAGGAGAGGT	0.369																																					Colon(35;490 801 34689 41394 43344)												0									,,	0,4264		0,0,2132					,,	5.4	1.0			93	2,8252		0,2,4125	no	coding,coding,coding	HSD17B4	NM_001199292.1,NM_001199291.1,NM_000414.3	,,	0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016	,,	,,		2,12516				SO:0001651	inframe_deletion	0				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.186_188delAAG	5.37:g.118809679_118809681delAAG	ENSP00000256216:p.Arg65del		B4DNV1|B4DVS5|E9PB82|F5HE57	In_Frame_Del	DEL	pfam_MaoC_dom,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.R65in_frame_del	ENST00000256216.6	37	c.186_188	CCDS4126.1	5																																																																																			HSD17B4	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR	ENSG00000133835		0.369	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3		0.00	83	0	AAG	NM_000414		118809678	+1	tier1		no_errors	ENST00000256216	ensembl	human	known	74_37	in_frame_del	29.89	61	26	DEL	1.000:1.000:1.000	-
HSD17B4	3295	genome.wustl.edu	37	5	118865647	118865647	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:118865647C>T	ENST00000256216.6	+	21	1959	c.1826C>T	c.(1825-1827)tCt>tTt	p.S609F	HSD17B4_ENST00000515320.1_Missense_Mutation_p.S591F|HSD17B4_ENST00000414835.2_Missense_Mutation_p.S469F|HSD17B4_ENST00000513628.1_Missense_Mutation_p.S472F|HSD17B4_ENST00000510025.1_Missense_Mutation_p.S585F|HSD17B4_ENST00000509514.1_Missense_Mutation_p.S347F|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000504811.1_Missense_Mutation_p.S634F	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	609	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		GCACCAACATCTGGTACTTCA	0.368																																					Colon(35;490 801 34689 41394 43344)												0													105.0	99.0	101.0					5																	118865647		2202	4300	6502	SO:0001583	missense	0				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1826C>T	5.37:g.118865647C>T	ENSP00000256216:p.Ser609Phe		B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_dom,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.S609F	ENST00000256216.6	37	c.1826	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265410	0.40095	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	D;T;T;T;D;T;T	0.82433	-1.61;-1.29;-1.24;-1.26;-1.58;-1.45;-0.92	5.82	4.95	0.65309	.	0.501324	0.23014	N	0.052939	D	0.85792	0.5779	M	0.81942	2.565	0.41661	D	0.989182	D;P;P;P;P	0.56521	0.976;0.713;0.727;0.877;0.713	P;B;B;B;B	0.50082	0.63;0.311;0.156;0.378;0.311	D	0.86577	0.1851	10	0.62326	D	0.03	-7.5298	8.6431	0.33989	0.1512:0.7715:0.0:0.0772	.	634;591;585;347;609	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	F	609;591;585;634;469;472;347	ENSP00000256216:S609F;ENSP00000424613:S591F;ENSP00000424940:S585F;ENSP00000420914:S634F;ENSP00000411960:S469F;ENSP00000425993:S472F;ENSP00000426272:S347F	ENSP00000256216:S609F	S	+	2	0	HSD17B4	118893546	0.961000	0.32948	0.572000	0.28498	0.218000	0.24690	3.018000	0.49625	1.470000	0.48102	0.591000	0.81541	TCT	HSD17B4	-	NULL	ENSG00000133835		0.368	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	-	0.00	39	0	C	NM_000414		118865647	+1	tier1	-	no_errors	ENST00000256216	ensembl	human	known	74_37	missense	47.83	24	22	SNP	0.766	T
HSD3B1	3283	genome.wustl.edu	37	1	120054190	120054190	+	Missense_Mutation	SNP	G	G	T	rs138025303	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:120054190G>T	ENST00000369413.3	+	3	355	c.210G>T	c.(208-210)aaG>aaT	p.K70N	HSD3B1_ENST00000528909.1_Missense_Mutation_p.K70N|HSD3B1_ENST00000235547.6_Missense_Mutation_p.K72N			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	70					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	CATTCCTGAAGAGAGCCTGCC	0.483																																																	0													100.0	93.0	95.0					1																	120054190		2203	4300	6503	SO:0001583	missense	0			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.210G>T	1.37:g.120054190G>T	ENSP00000358421:p.Lys70Asn		A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA	p.K72N	ENST00000369413.3	37	c.216	CCDS903.1	1	.	.	.	.	.	.	.	.	.	.	G	2.914	-0.224613	0.06061	.	.	ENSG00000203857	ENST00000531340;ENST00000369413;ENST00000235547;ENST00000528909	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	3.27	-2.95	0.05564	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.623726	0.16959	N	0.192566	T	0.60470	0.2271	M	0.65975	2.015	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.20384	0.012;0.029	T	0.48875	-0.8996	10	0.22706	T	0.39	-8.5627	2.1981	0.03916	0.2278:0.438:0.1983:0.136	.	72;70	Q5TDG2;P14060	.;3BHS1_HUMAN	N	70;70;72;70	ENSP00000435999:K70N;ENSP00000358421:K70N;ENSP00000235547:K72N;ENSP00000432268:K70N	ENSP00000235547:K72N	K	+	3	2	HSD3B1	119855713	0.000000	0.05858	0.099000	0.21106	0.011000	0.07611	0.078000	0.14761	-0.182000	0.10602	-0.339000	0.08088	AAG	HSD3B1	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA	ENSG00000203857		0.483	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD3B1	HGNC	protein_coding	OTTHUMT00000034993.3	-	0.00	102	0	G	NM_000862		120054190	+1	tier1	-	no_errors	ENST00000235547	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.132	T
HSPA12A	259217	genome.wustl.edu	37	10	118434562	118434562	+	Silent	SNP	A	A	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:118434562A>C	ENST00000369209.3	-	12	1862	c.1758T>G	c.(1756-1758)cgT>cgG	p.R586R	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	586						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGGTGTAGCTACGCTTGACCA	0.567																																																	0													68.0	74.0	72.0					10																	118434562		2103	4209	6312	SO:0001819	synonymous_variant	0			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1758T>G	10.37:g.118434562A>C				Silent	SNP	NULL	p.R586	ENST00000369209.3	37	c.1758	CCDS41569.1	10																																																																																			HSPA12A	-	NULL	ENSG00000165868		0.567	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA12A	HGNC	protein_coding	OTTHUMT00000050530.1	-	0.00	40	0	A	NM_025015		118434562	-1	tier1	-	no_errors	ENST00000369209	ensembl	human	known	74_37	silent	38.89	11	7	SNP	0.748	C
HSPA2	3306	genome.wustl.edu	37	14	65009180	65009180	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:65009180G>A	ENST00000394709.1	+	2	1689	c.1613G>A	c.(1612-1614)cGa>cAa	p.R538Q	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Missense_Mutation_p.R538Q			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	538					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		AATCGCGACCGAGTCGCGGCC	0.542																																					Pancreas(136;1211 1835 24894 31984 38227)												0													76.0	78.0	77.0					14																	65009180		2203	4300	6503	SO:0001583	missense	0			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1613G>A	14.37:g.65009180G>A	ENSP00000378199:p.Arg538Gln		Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R538Q	ENST00000394709.1	37	c.1613	CCDS9766.1	14	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053565	0.36277	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.04758	3.56;3.56	5.31	5.31	0.75309	.	0.000000	0.56097	U	0.000033	T	0.11793	0.0287	M	0.80508	2.5	0.24690	N	0.99332	B	0.29590	0.25	B	0.28232	0.087	T	0.05241	-1.0897	10	0.87932	D	0	-6.5779	19.05	0.93039	0.0:0.0:1.0:0.0	.	538	P54652	HSP72_HUMAN	Q	538;538;312	ENSP00000378199:R538Q;ENSP00000247207:R538Q	ENSP00000247207:R538Q	R	+	2	0	HSPA2	64078933	0.980000	0.34600	0.978000	0.43139	0.073000	0.16967	4.388000	0.59633	2.502000	0.84385	0.558000	0.71614	CGA	HSPA2	-	pfam_Hsp_70_fam	ENSG00000126803		0.542	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA2	HGNC	protein_coding	OTTHUMT00000280651.1	-	0.00	18	0	G			65009180	+1	tier1	-	no_errors	ENST00000247207	ensembl	human	known	74_37	missense	61.11	7	11	SNP	0.987	A
HSPBP1	23640	genome.wustl.edu	37	19	55785874	55785874	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:55785874C>T	ENST00000255631.5	-	5	842	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	HSPBP1_ENST00000433386.2_Missense_Mutation_p.A178T|HSPBP1_ENST00000587922.1_Missense_Mutation_p.A178T|HSPBP1_ENST00000376343.3_Missense_Mutation_p.A178T	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	181					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TCCTGGATGGCTGCCACGTTC	0.711																																																	0													17.0	15.0	16.0					19																	55785874		2191	4280	6471	SO:0001583	missense	0				CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.532G>A	19.37:g.55785874C>T	ENSP00000255631:p.Ala178Thr		B3KQP0|B4DG11|O95351|Q6ZNU5	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A178T	ENST00000255631.5	37	c.532	CCDS33111.1	19	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281945	0.40394	.	.	ENSG00000133265	ENST00000433386;ENST00000255631;ENST00000376343	T;T;T	0.42131	0.98;0.98;0.98	5.57	5.57	0.84162	Armadillo-like helical (1);Armadillo-type fold (1);	0.340010	0.31989	N	0.006760	T	0.32941	0.0846	L	0.43152	1.355	0.29908	N	0.823792	P;P;P;D	0.53619	0.843;0.843;0.843;0.961	B;B;B;B	0.43360	0.154;0.154;0.154;0.417	T	0.28235	-1.0050	10	0.21540	T	0.41	-20.5675	7.7848	0.29085	0.1633:0.7554:0.0:0.0813	.	178;181;181;224	C9JNI7;Q9NZL4-2;Q9NZL4;B4DG11	.;.;HPBP1_HUMAN;.	T	178	ENSP00000398244:A178T;ENSP00000255631:A178T;ENSP00000365521:A178T	ENSP00000255631:A178T	A	-	1	0	HSPBP1	60477686	0.940000	0.31905	0.977000	0.42913	0.824000	0.46624	1.818000	0.39012	2.808000	0.96608	0.650000	0.86243	GCC	HSPBP1	-	superfamily_ARM-type_fold	ENSG00000133265		0.711	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	HSPBP1	HGNC	protein_coding	OTTHUMT00000452670.1	-	0.00	20	0	C	NM_012267		55785874	-1	tier1	-	no_errors	ENST00000255631	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.807	T
HSPG2	3339	genome.wustl.edu	37	1	22149323	22149323	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:22149323delT	ENST00000374695.3	-	0	13741				HSPG2_ENST00000486901.1_5'UTR|LDLRAD2_ENST00000543870.1_Intron|LDLRAD2_ENST00000344642.2_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GTGAGCTGCCTTTTGCTCCAC	0.637																																																	0																																										SO:0001624	3_prime_UTR_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.*486A>-	1.37:g.22149323delT			Q16287|Q5SZI3|Q9H3V5	RNA	DEL	-	NULL	ENST00000374695.3	37	NULL	CCDS30625.1	1																																																																																			HSPG2	-	-	ENSG00000142798		0.637	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1		0.00	38	0	T	NM_005529		22149323	-1	tier1		no_errors	ENST00000486901	ensembl	human	known	74_37	rna	40.74	16	11	DEL	1.000	-
HSPG2	3339	genome.wustl.edu	37	1	22168102	22168102	+	Silent	SNP	G	G	A	rs142555110		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:22168102G>A	ENST00000374695.3	-	70	9337	c.9258C>T	c.(9256-9258)caC>caT	p.H3086H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3086	Ig-like C2-type 16.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGTAGGTACCGTGGTTGCTGG	0.617																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	127.0	100.0	109.0		9258	-9.0	0.0	1	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	HSPG2	NM_005529.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		3086/4392	22168102	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9258C>T	1.37:g.22168102G>A			Q16287|Q5SZI3|Q9H3V5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.H3086	ENST00000374695.3	37	c.9258	CCDS30625.1	1																																																																																			HSPG2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000142798		0.617	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	-	0.00	158	0	G	NM_005529		22168102	-1	tier1	rs142555110	no_errors	ENST00000374695	ensembl	human	known	74_37	silent	34.19	77	40	SNP	0.003	A
HSPH1	10808	genome.wustl.edu	37	13	31722127	31722127	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:31722127G>T	ENST00000320027.5	-	10	1691	c.1347C>A	c.(1345-1347)ccC>ccA	p.P449P	HSPH1_ENST00000445273.2_Silent_p.P451P|HSPH1_ENST00000429785.2_Silent_p.P268P|HSPH1_ENST00000380405.4_Silent_p.P449P|HSPH1_ENST00000380406.5_Silent_p.P408P	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	449					chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GAACTCCTTGGGGATCAGAAT	0.388																																																	0													151.0	172.0	165.0					13																	31722127		2203	4300	6503	SO:0001819	synonymous_variant	0			AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1347C>A	13.37:g.31722127G>T			B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.P451	ENST00000320027.5	37	c.1353	CCDS9340.1	13																																																																																			HSPH1	-	pfam_Hsp_70_fam	ENSG00000120694		0.388	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPH1	HGNC	protein_coding	OTTHUMT00000044384.1	-	0.00	33	0	G			31722127	-1	tier1	-	no_errors	ENST00000445273	ensembl	human	known	74_37	silent	12.50	56	8	SNP	0.037	T
HTATIP2	10553	genome.wustl.edu	37	11	20388803	20388803	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:20388803T>C	ENST00000451739.2	+	2	720	c.279T>C	c.(277-279)ggT>ggC	p.G93G	HTATIP2_ENST00000443524.2_Silent_p.G93G|HTATIP2_ENST00000532505.1_Silent_p.G93G|HTATIP2_ENST00000531058.1_Silent_p.G93G|HTATIP2_ENST00000419348.2_Silent_p.G127G|HTATIP2_ENST00000421577.2_Silent_p.G93G|HTATIP2_ENST00000530266.1_Silent_p.G93G|HTATIP2_ENST00000532081.1_Silent_p.G93G	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GTTGCCTGGGTACCACCAGAG	0.463																																																	0													245.0	236.0	239.0					11																	20388803		2203	4300	6503	SO:0001819	synonymous_variant	0			AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	16637	protein-coding gene	gene with protein product	"""Tat-interacting protein (30kD)"", ""short chain dehydrogenase/reductase family 44U, member 1"""	605628	"""HIV-1 Tat interactive protein 2, 30 kDa"""			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.279T>C	11.37:g.20388803T>C				Silent	SNP	pfam_Semialdehyde_DH_NAD-bd	p.G127	ENST00000451739.2	37	c.381	CCDS7852.1	11																																																																																			HTATIP2	-	pfam_Semialdehyde_DH_NAD-bd	ENSG00000109854		0.463	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATIP2	HGNC	protein_coding	OTTHUMT00000387445.2	-	0.00	53	0	T	NM_001098521		20388803	+1	tier1	-	no_errors	ENST00000419348	ensembl	human	known	74_37	silent	48.96	48	47	SNP	0.995	C
HTR3D	200909	genome.wustl.edu	37	3	183749570	183749570	+	5'Flank	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:183749570G>T	ENST00000382489.3	+	0	0				HTR3D_ENST00000428798.2_Missense_Mutation_p.G14V|HTR3D_ENST00000334128.2_Intron	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic						ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	TTCCTCCTTGGCTTCATCCTC	0.443																																																	0													135.0	155.0	149.0					3																	183749570		692	1591	2283	SO:0001631	upstream_gene_variant	0			AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858		3.37:g.183749570G>T	Exception_encountered		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd	p.G14V	ENST00000382489.3	37	c.41	CCDS54685.1	3	.	.	.	.	.	.	.	.	.	.	G	3.702	-0.061429	0.07317	.	.	ENSG00000186090	ENST00000428798	T	0.75367	-0.93	4.26	1.23	0.21249	.	.	.	.	.	T	0.71108	0.3301	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.62158	-0.6913	6	0.66056	D	0.02	.	7.2147	0.25953	0.0:0.3568:0.4598:0.1835	.	.	.	.	V	14	ENSP00000405409:G14V	ENSP00000405409:G14V	G	+	2	0	HTR3D	185232264	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.221000	0.17680	0.039000	0.15632	-0.235000	0.12190	GGC	HTR3D	-	NULL	ENSG00000186090		0.443	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3D	HGNC	protein_coding	OTTHUMT00000346289.1	-	0.00	38	0	G	NM_182537		183749570	+1	tier1	-	no_errors	ENST00000428798	ensembl	human	known	74_37	missense	9.30	39	4	SNP	0.000	T
HTT	3064	genome.wustl.edu	37	4	3127292	3127294	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:3127292_3127294delAGA	ENST00000355072.5	+	11	1483_1485	c.1338_1340delAGA	c.(1336-1341)ggagaa>gga	p.E449del		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	449					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGCTCTTAGGAGAAGAAGAAGCC	0.404																																																	0																																										SO:0001651	inframe_deletion	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.1338_1340delAGA	4.37:g.3127298_3127300delAGA	ENSP00000347184:p.Glu449del		Q9UQB7	In_Frame_Del	DEL	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.E449in_frame_del	ENST00000355072.5	37	c.1338_1340	CCDS43206.1	4																																																																																			HTT	-	superfamily_ARM-type_fold	ENSG00000197386		0.404	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2		0.00	75	0	AGA	NM_002111		3127294	+1	tier1		no_errors	ENST00000355072	ensembl	human	known	74_37	in_frame_del	41.82	32	23	DEL	0.996:1.000:1.000	-
HTT	3064	genome.wustl.edu	37	4	3158915	3158915	+	Missense_Mutation	SNP	G	G	A	rs376975573		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:3158915G>A	ENST00000355072.5	+	28	3887	c.3742G>A	c.(3742-3744)Gct>Act	p.A1248T		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1248					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCTACACACGCTAACTACAA	0.383													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18042	0.0		0.0	False		,,,				2504	0.0																0								G	THR/ALA	0,3778		0,0,1889	130.0	117.0	121.0		3742	5.0	0.6	4		121	1,8243		0,1,4121	no	missense	HTT	NM_002111.6	58	0,1,6010	AA,AG,GG		0.0121,0.0,0.0083	probably-damaging	1248/3143	3158915	1,12021	1889	4122	6011	SO:0001583	missense	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.3742G>A	4.37:g.3158915G>A	ENSP00000347184:p.Ala1248Thr		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.A1248T	ENST00000355072.5	37	c.3742	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	G	18.10	3.547401	0.65311	0.0	1.21E-4	ENSG00000197386	ENST00000355072	T	0.05447	3.44	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.22627	0.0546	M	0.62723	1.935	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.00939	-1.1507	10	0.30078	T	0.28	.	18.374	0.90430	0.0:0.0:1.0:0.0	.	1248	P42858	HD_HUMAN	T	1248	ENSP00000347184:A1248T	ENSP00000347184:A1248T	A	+	1	0	HTT	3128713	1.000000	0.71417	0.565000	0.28409	0.393000	0.30537	6.064000	0.71169	2.355000	0.79922	0.462000	0.41574	GCT	HTT	-	NULL	ENSG00000197386		0.383	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	-	0.00	59	0	G	NM_002111		3158915	+1	tier1	-	no_errors	ENST00000355072	ensembl	human	known	74_37	missense	26.23	45	16	SNP	1.000	A
HTRA3	94031	genome.wustl.edu	37	4	8293255	8293255	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:8293255C>T	ENST00000307358.2	+	4	1071	c.867C>T	c.(865-867)tcC>tcT	p.S289S	HTRA3_ENST00000382512.3_Silent_p.S289S	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	289	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TCCGGGACTCCGACATGGACT	0.637																																																	0													37.0	33.0	34.0					4																	8293255		2203	4300	6503	SO:0001819	synonymous_variant	0			AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.867C>T	4.37:g.8293255C>T			Q7Z7A2	Silent	SNP	pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.S289	ENST00000307358.2	37	c.867	CCDS3400.1	4																																																																																			HTRA3	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	ENSG00000170801		0.637	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA3	HGNC	protein_coding	OTTHUMT00000092669.1	-	0.00	32	0	C	NM_053044		8293255	+1	tier1	-	no_errors	ENST00000307358	ensembl	human	known	74_37	silent	50.00	11	11	SNP	0.147	T
HUWE1	10075	genome.wustl.edu	37	X	53577971	53577971	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:53577971C>A	ENST00000342160.3	-	64	9733	c.9276G>T	c.(9274-9276)gaG>gaT	p.E3092D	HUWE1_ENST00000474288.1_5'Flank|HUWE1_ENST00000262854.6_Missense_Mutation_p.E3092D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3092					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGGCTTGAGCCTCAGCTGCAA	0.567																																																	0													85.0	66.0	73.0					X																	53577971		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9276G>T	X.37:g.53577971C>A	ENSP00000340648:p.Glu3092Asp		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.E3092D	ENST00000342160.3	37	c.9276	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.92|16.92	3.255400|3.255400	0.59321|0.59321	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.71698|.	-0.59;-0.59|.	5.88|5.88	5.03|5.03	0.67393|0.67393	.|.	0.062772|.	0.64402|.	D|.	0.000007|.	T|T	0.73118|0.73118	0.3546|0.3546	M|M	0.76727|0.76727	2.345|2.345	0.53688|0.53688	D|D	0.999978|0.999978	P;D|.	0.56035|.	0.956;0.974|.	D;D|.	0.70487|.	0.931;0.969|.	T|T	0.73493|0.73493	-0.3965|-0.3965	10|5	0.72032|.	D|.	0.01|.	.|.	13.0642|13.0642	0.59024|0.59024	0.0:0.9197:0.0:0.0802|0.0:0.9197:0.0:0.0802	.|.	3092;3076|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	D|C	3092|2126	ENSP00000340648:E3092D;ENSP00000262854:E3092D|.	ENSP00000262854:E3092D|.	E|G	-|-	3|1	2|0	HUWE1|HUWE1	53594696|53594696	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.692000|1.692000	0.37731|0.37731	1.252000|1.252000	0.44001|0.44001	0.600000|0.600000	0.82982|0.82982	GAG|GGC	HUWE1	-	NULL	ENSG00000086758		0.567	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0.00	25	0	C	XM_497119		53577971	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	68.42	6	13	SNP	1.000	A
HUWE1	10075	genome.wustl.edu	37	X	53587251	53587251	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:53587251C>T	ENST00000342160.3	-	55	8091	c.7634G>A	c.(7633-7635)cGc>cAc	p.R2545H	HUWE1_ENST00000262854.6_Missense_Mutation_p.R2545H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2545					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTCTGACTGCGCCCGATGCC	0.577																																																	0													102.0	69.0	80.0					X																	53587251		2203	4300	6503	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7634G>A	X.37:g.53587251C>T	ENSP00000340648:p.Arg2545His		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R2545H	ENST00000342160.3	37	c.7634	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560263	0.65538	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.49139	0.79;0.79	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.52468	0.1736	N	0.14661	0.345	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	D;D	0.77004	0.976;0.989	T	0.52366	-0.8585	10	0.30078	T	0.28	.	17.6402	0.88133	0.0:1.0:0.0:0.0	.	2545;2545	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	H	2545	ENSP00000340648:R2545H;ENSP00000262854:R2545H	ENSP00000262854:R2545H	R	-	2	0	HUWE1	53603976	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	6.829000	0.75314	2.524000	0.85096	0.600000	0.82982	CGC	HUWE1	-	NULL	ENSG00000086758		0.577	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	-	0.00	38	0	C	XM_497119		53587251	-1	tier1	-	no_errors	ENST00000262854	ensembl	human	known	74_37	missense	85.71	4	24	SNP	1.000	T
HVCN1	84329	genome.wustl.edu	37	12	111099112	111099112	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:111099112C>G	ENST00000356742.5	-	3	916	c.163G>C	c.(163-165)Gag>Cag	p.E55Q	HVCN1_ENST00000439744.2_Missense_Mutation_p.E35Q|HVCN1_ENST00000548312.1_Missense_Mutation_p.E55Q|HVCN1_ENST00000242607.8_Missense_Mutation_p.E55Q			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	55	Poly-Glu.				cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GGTGGCTGctcctcctcctcc	0.607																																																	0													64.0	64.0	64.0					12																	111099112		2203	4300	6503	SO:0001583	missense	0			BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.163G>C	12.37:g.111099112C>G	ENSP00000349181:p.Glu55Gln		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E55Q	ENST00000356742.5	37	c.163	CCDS31900.1	12	.	.	.	.	.	.	.	.	.	.	c	6.841	0.524430	0.13066	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744;ENST00000546713	T;T;T;T	0.46451	0.87;0.87;0.87;0.9	4.93	4.0	0.46444	.	0.358324	0.28031	N	0.016868	T	0.29620	0.0739	L	0.36672	1.1	0.09310	N	1	B;B	0.12013	0.001;0.005	B;B	0.10450	0.002;0.005	T	0.07888	-1.0749	10	0.42905	T	0.14	-7.055	6.9002	0.24279	0.0:0.6777:0.1969:0.1254	.	55;55	Q96D96;Q96D96-3	HVCN1_HUMAN;.	Q	55;55;55;35;55	ENSP00000449601:E55Q;ENSP00000242607:E55Q;ENSP00000349181:E55Q;ENSP00000412052:E35Q	ENSP00000242607:E55Q	E	-	1	0	HVCN1	109583495	0.892000	0.30473	0.776000	0.31678	0.113000	0.19764	0.092000	0.15066	2.565000	0.86533	0.457000	0.33378	GAG	HVCN1	-	NULL	ENSG00000122986		0.607	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HVCN1	HGNC	protein_coding	OTTHUMT00000404653.1	-	0.00	148	0	C	NM_032369		111099112	-1	tier1	-	no_errors	ENST00000242607	ensembl	human	known	74_37	missense	31.91	96	45	SNP	0.018	G
HYAL4	23553	genome.wustl.edu	37	7	123509154	123509154	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:123509154G>A	ENST00000223026.4	+	3	1465	c.827G>A	c.(826-828)cGc>cAc	p.R276H	HYAL4_ENST00000476325.1_Missense_Mutation_p.R276H	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	276					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AACATTTTGCGCTTCTCCAAA	0.453																																																	0													75.0	72.0	73.0					7																	123509154		2203	4300	6503	SO:0001583	missense	0			AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.827G>A	7.37:g.123509154G>A	ENSP00000223026:p.Arg276His		D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.R276H	ENST00000223026.4	37	c.827	CCDS5789.1	7	.	.	.	.	.	.	.	.	.	.	G	3.563	-0.089151	0.07097	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.22134	1.97;1.97	5.89	-3.62	0.04543	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.433780	0.27016	N	0.021355	T	0.06917	0.0176	N	0.10685	0.025	0.09310	N	1	B;B	0.11235	0.001;0.004	B;B	0.10450	0.003;0.005	T	0.28776	-1.0033	9	.	.	.	0.0211	5.1939	0.15225	0.4449:0.0:0.2563:0.2988	.	276;276	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	H	276	ENSP00000223026:R276H;ENSP00000417186:R276H	.	R	+	2	0	HYAL4	123296390	0.012000	0.17670	0.011000	0.14972	0.004000	0.04260	-0.202000	0.09451	-0.724000	0.04908	-0.119000	0.15052	CGC	HYAL4	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase	ENSG00000106302		0.453	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL4	HGNC	protein_coding	OTTHUMT00000348545.1	-	0.00	35	0	G	NM_012269		123509154	+1	tier1	-	no_errors	ENST00000223026	ensembl	human	known	74_37	missense	28.95	27	11	SNP	0.044	A
HYDIN	54768	genome.wustl.edu	37	16	70889081	70889081	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:70889081G>A	ENST00000393567.2	-	73	12543	c.12393C>T	c.(12391-12393)agC>agT	p.S4131S	RNU6ATAC25P_ENST00000408798.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4131					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCAGGCTGTTGCTGAAACCTT	0.498																																																	0													17.0	26.0	23.0					16																	70889081		1772	4061	5833	SO:0001819	synonymous_variant	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12393C>T	16.37:g.70889081G>A			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.S4131	ENST00000393567.2	37	c.12393	CCDS59269.1	16																																																																																			HYDIN	-	NULL	ENSG00000157423		0.498	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0.00	26	0	G			70889081	-1	tier1	-	no_errors	ENST00000393567	ensembl	human	putative	74_37	silent	61.90	8	13	SNP	0.701	A
HYDIN	54768	genome.wustl.edu	37	16	71220808	71220808	+	5'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:71220808delT	ENST00000393567.2	-	0	141				HYDIN_ENST00000393550.2_5'UTR|HYDIN_ENST00000288168.10_Frame_Shift_Del_p.K14fs|HYDIN_ENST00000538248.1_Frame_Shift_Del_p.K24fs|HYDIN_ENST00000541601.1_Frame_Shift_Del_p.K14fs|HYDIN_ENST00000448089.2_5'UTR|HYDIN_ENST00000321489.5_5'UTR|HYDIN_ENST00000448691.1_5'UTR	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein						cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTTTAGTAATTTTTTTTTCT	0.333																																																	0													87.0	88.0	88.0					16																	71220808		2198	4300	6498	SO:0001623	5_prime_UTR_variant	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.-10A>-	16.37:g.71220808delT			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Del	DEL	superfamily_PapD-like	p.K24fs	ENST00000393567.2	37	c.72	CCDS59269.1	16																																																																																			HYDIN	-	NULL	ENSG00000157423		0.333	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3		0.00	25	0	T			71220808	-1	tier1		no_errors	ENST00000538248	ensembl	human	known	74_37	frame_shift_del	29.17	17	7	DEL	0.169	-
HYDIN	54768	genome.wustl.edu	37	16	70934983	70934983	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:70934983delG	ENST00000393567.2	-	53	9122	c.8972delC	c.(8971-8973)cctfs	p.P2991fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2991					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTCAGCCTCAGGGGGGATGGT	0.577																																																	0													154.0	148.0	150.0					16																	70934983		2014	4180	6194	SO:0001589	frameshift_variant	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8972delC	16.37:g.70934983delG	ENSP00000377197:p.Pro2991fs		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Del	DEL	superfamily_P-loop_NTPase,superfamily_PapD-like	p.P2991fs	ENST00000393567.2	37	c.8972	CCDS59269.1	16																																																																																			HYDIN	-	superfamily_PapD-like	ENSG00000157423		0.577	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3		0.00	60	0	G			70934983	-1			no_errors	ENST00000393567	ensembl	human	putative	74_37	frame_shift_del	16.33	41	8	DEL	0.097	0
HYDIN	54768	genome.wustl.edu	37	16	71052314	71052314	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:71052314delT	ENST00000393567.2	-	23	3512	c.3362delA	c.(3361-3363)aacfs	p.N1121fs	HYDIN_ENST00000448089.2_Frame_Shift_Del_p.N1073fs	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1121					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GATCAGCAGGTTTTTTTCTTC	0.383																																																	0													3.0	3.0	3.0					16																	71052314		1036	2198	3234	SO:0001589	frameshift_variant	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3362delA	16.37:g.71052314delT	ENSP00000377197:p.Asn1121fs		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Del	DEL	superfamily_PapD-like	p.N1073fs	ENST00000393567.2	37	c.3218	CCDS59269.1	16																																																																																			HYDIN	-	NULL	ENSG00000157423		0.383	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3		0.00	11	0	T			71052314	-1			no_errors	ENST00000448089	ensembl	human	known	74_37	frame_shift_del	57.14	3	4	DEL	0.002	0
IARS	3376	genome.wustl.edu	37	9	95022503	95022503	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:95022503delT	ENST00000375643.3	-	18	2067	c.1801delA	c.(1801-1803)atgfs	p.M601fs	IARS_ENST00000443024.2_Frame_Shift_Del_p.M601fs|IARS_ENST00000375629.3_De_novo_Start_OutOfFrame|IARS_ENST00000447699.2_Frame_Shift_Del_p.M491fs	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	601					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.M601fs*21(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CGTTTGCTCATTTTTTGGCCA	0.383																																																	1	Insertion - Frameshift(1)	large_intestine(1)											214.0	160.0	178.0					9																	95022503		2203	4300	6503	SO:0001589	frameshift_variant	0			AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.1801delA	9.37:g.95022503delT	ENSP00000364794:p.Met601fs		A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Frame_Shift_Del	DEL	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase	p.M601fs	ENST00000375643.3	37	c.1801	CCDS6694.1	9																																																																																			IARS	-	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-ligase	ENSG00000196305		0.383	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS	HGNC	protein_coding	OTTHUMT00000053059.2		0.00	151	0	T	NM_002161		95022503	-1	tier1		no_errors	ENST00000375643	ensembl	human	known	74_37	frame_shift_del	27.89	106	41	DEL	1.000	-
IBA57-AS1	574432	genome.wustl.edu	37	1	228351834	228351834	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:228351834A>T	ENST00000366713.1	-	2	398	c.317T>A	c.(316-318)aTt>aAt	p.I106N	IBA57-AS1_ENST00000496552.1_5'UTR|IBA57_ENST00000366711.3_5'Flank			B1ANH7	IBAS1_HUMAN	IBA57 antisense RNA 1 (head to head)	106																	atcatgaggaatttttttatt	0.507																																																	0																																										SO:0001583	missense	0			AK057440		1q42.13	2013-08-29	2013-08-29	2013-08-29	ENSG00000203684	ENSG00000203684		"""Long non-coding RNAs"""	32062	non-coding RNA	RNA, long non-coding			"""chromosome 1 open reading frame 148"""	C1orf148			Standard	NR_103539		Approved	FLJ32878		B1ANH7	OTTHUMG00000039768	ENST00000366713.1:c.317T>A	1.37:g.228351834A>T	ENSP00000355674:p.Ile106Asn			Missense_Mutation	SNP	NULL	p.I106N	ENST00000366713.1	37	c.317		1	.	.	.	.	.	.	.	.	.	.	A	1.479	-0.557640	0.03967	.	.	ENSG00000203684	ENST00000366713	.	.	.	0.781	0.781	0.18561	.	.	.	.	.	T	0.36276	0.0961	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37150	-0.9718	5	0.87932	D	0	.	3.7796	0.08674	1.0:0.0:0.0:0.0	.	.	.	.	N	106	.	ENSP00000355674:I106N	I	-	2	0	C1orf148	226418457	0.001000	0.12720	0.003000	0.11579	0.017000	0.09413	-0.817000	0.04472	0.577000	0.29470	0.358000	0.22013	ATT	IBA57-AS1	-	NULL	ENSG00000203684		0.507	IBA57-AS1-001	KNOWN	basic|appris_principal	protein_coding	IBA57-AS1	HGNC	protein_coding	OTTHUMT00000095978.1	-	0.00	32	0	A			228351834	-1	tier1	-	no_errors	ENST00000366713	ensembl	human	known	74_37	missense	25.00	33	11	SNP	0.004	T
ICOSLG	23308	genome.wustl.edu	37	21	45649927	45649927	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:45649927G>A	ENST00000407780.3	-	6	1026				ICOSLG_ENST00000344330.4_Intron|ICOSLG_ENST00000400379.3_Missense_Mutation_p.A303V|ICOSLG_ENST00000400377.3_Intron	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand						B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GCTTCCCACGGCAAACTCACC	0.567																																																	0													21.0	28.0	26.0					21																	45649927		1912	4073	5985	SO:0001627	intron_variant	0			AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.898+9C>T	21.37:g.45649927G>A			A8MUZ1|Q9HD18|Q9NRQ1	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	p.A303V	ENST00000407780.3	37	c.908	CCDS42952.1	21	.	.	.	.	.	.	.	.	.	.	G	11.89	1.773011	0.31411	.	.	ENSG00000160223	ENST00000400379	T	0.01787	4.64	2.63	1.74	0.24563	.	.	.	.	.	T	0.02455	0.0075	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.45673	-0.9245	6	0.56958	D	0.05	.	5.3333	0.15944	0.1624:0.0:0.8376:0.0	.	.	.	.	V	303	ENSP00000383230:A303V	ENSP00000383230:A303V	A	-	2	0	ICOSLG	44474355	0.002000	0.14202	0.001000	0.08648	0.136000	0.21042	1.080000	0.30779	0.679000	0.31345	0.313000	0.20887	GCC	ICOSLG	-	NULL	ENSG00000160223		0.567	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ICOSLG	HGNC	protein_coding	OTTHUMT00000195838.1	-	0.00	18	0	G	NM_015259		45649927	-1	tier1	-	no_errors	ENST00000400379	ensembl	human	putative	74_37	missense	44.44	5	4	SNP	0.001	A
IDH3B	3420	genome.wustl.edu	37	20	2639423	2639423	+	Missense_Mutation	SNP	C	C	T	rs376112899	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:2639423C>T	ENST00000380843.4	-	12	1162	c.1132G>A	c.(1132-1134)Ggt>Agt	p.G378S	SNORD86_ENST00000391196.1_RNA|SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000380851.5_Intron|SNORD57_ENST00000448188.1_RNA|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	378					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|NADH metabolic process (GO:0006734)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14						TGCAGGTGACCGATGACAGAC	0.557													C|||	3	0.000599042	0.0	0.0	5008	,	,		21634	0.0		0.0	False		,,,				2504	0.0031																0								C	SER/GLY,,SER/GLY	0,4406		0,0,2203	176.0	153.0	161.0		1132,,676	2.3	1.0	20		161	2,8598	2.2+/-6.3	0,2,4298	no	missense,intron,missense	IDH3B	NM_006899.2,NM_174855.1,NM_174856.1	56,,56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,,benign	378/386,,226/234	2639423	2,13004	2203	4300	6503	SO:0001583	missense	0				CCDS13031.1, CCDS13032.1, CCDS74696.1	20p13	2013-02-14			ENSG00000101365	ENSG00000101365	1.1.1.41		5385	protein-coding gene	gene with protein product		604526				10575215	Standard	NM_006899		Approved	RP46	uc002wgp.4	O43837	OTTHUMG00000031699	ENST00000380843.4:c.1132G>A	20.37:g.2639423C>T	ENSP00000370223:p.Gly378Ser		B2RDR1|D3DVX2|D3DVX3|O95106|Q5JXS8|Q9NQ06|Q9NQ07|Q9NUZ0|Q9UEX0|Q9UG99	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.G378S	ENST00000380843.4	37	c.1132	CCDS13032.1	20	.	.	.	.	.	.	.	.	.	.	C	8.819	0.937100	0.18206	0.0	2.33E-4	ENSG00000101365	ENST00000380843;ENST00000435594	T	0.53423	0.62	5.69	2.27	0.28462	Isopropylmalate dehydrogenase-like domain (1);	0.411123	0.26279	N	0.025284	T	0.18635	0.0447	N	0.02275	-0.615	0.26637	N	0.972364	B;B	0.15141	0.012;0.001	B;B	0.08055	0.003;0.0	T	0.21280	-1.0250	10	0.11485	T	0.65	-12.0319	9.9082	0.41388	0.0:0.7341:0.0:0.2659	.	226;378	O43837-3;O43837	.;IDH3B_HUMAN	S	378;226	ENSP00000370223:G378S	ENSP00000370223:G378S	G	-	1	0	IDH3B	2587423	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	0.932000	0.28884	0.759000	0.33084	0.585000	0.79938	GGT	IDH3B	-	tigrfam_Isocitrate_DH_NAD	ENSG00000101365		0.557	IDH3B-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IDH3B	HGNC	protein_coding	OTTHUMT00000077613.1	-	0.00	63	0	C			2639423	-1	tier1	-	no_errors	ENST00000380843	ensembl	human	known	74_37	missense	32.39	48	23	SNP	0.994	T
IDO1	3620	genome.wustl.edu	37	8	39785442	39785442	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:39785442G>A	ENST00000518237.1	+	10	1589	c.950G>A	c.(949-951)cGt>cAt	p.R317H	IDO1_ENST00000522495.1_Missense_Mutation_p.R317H|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	317					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	CCCTCAGTCCGTGAGTTTGTC	0.507																																																	0													52.0	49.0	50.0					8																	39785442		1959	4165	6124	SO:0001583	missense	0			M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.950G>A	8.37:g.39785442G>A	ENSP00000430950:p.Arg317His		Q540B4	Missense_Mutation	SNP	pfam_Indolamine_dOase	p.R317H	ENST00000518237.1	37	c.950	CCDS47847.1	8	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308570	0.81247	.	.	ENSG00000131203	ENST00000522495;ENST00000518237	T;T	0.57752	0.38;0.38	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000004	T	0.76205	0.3955	M	0.88979	2.995	0.36738	D	0.882088	D	0.89917	1.0	D	0.97110	1.0	T	0.82924	-0.0216	9	.	.	.	-16.2247	14.4859	0.67616	0.0:0.0:1.0:0.0	.	317	P14902	I23O1_HUMAN	H	317	ENSP00000430505:R317H;ENSP00000430950:R317H	.	R	+	2	0	IDO1	39904599	1.000000	0.71417	0.875000	0.34327	0.182000	0.23217	3.978000	0.56881	2.793000	0.96121	0.563000	0.77884	CGT	IDO1	-	pfam_Indolamine_dOase	ENSG00000131203		0.507	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDO1	HGNC	protein_coding	OTTHUMT00000376987.1	-	0.00	121	0	G	NM_002164		39785442	+1	tier1	-	no_errors	ENST00000518237	ensembl	human	known	74_37	missense	29.52	117	49	SNP	0.776	A
IDO2	169355	genome.wustl.edu	37	8	39871110	39871110	+	Missense_Mutation	SNP	C	C	T	rs554438467	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:39871110C>T	ENST00000389060.4	+	9	746	c.746C>T	c.(745-747)gCa>gTa	p.A249V	IDO2_ENST00000502986.2_Missense_Mutation_p.A262V|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	249					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GCAATGCCTGCAGGGCTGATG	0.488																																																	0													117.0	109.0	111.0					8																	39871110		1907	4119	6026	SO:0001583	missense	0			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.746C>T	8.37:g.39871110C>T	ENSP00000426447:p.Ala249Val		A4UD41	Missense_Mutation	SNP	pfam_Indolamine_dOase	p.A262V	ENST00000389060.4	37	c.785		8	.	.	.	.	.	.	.	.	.	.	C	9.687	1.150899	0.21371	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.42900	0.96;0.96	5.48	-9.67	0.00531	.	1.112050	0.06650	N	0.762558	T	0.12817	0.0311	N	0.03177	-0.4	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.13308	-1.0514	9	.	.	.	.	3.969	0.09444	0.1516:0.1284:0.0789:0.6412	.	262;249	F5H5G0;Q6ZQW0	.;I23O2_HUMAN	V	262;249	ENSP00000443432:A262V;ENSP00000426447:A249V	.	A	+	2	0	IDO2	39990267	0.000000	0.05858	0.000000	0.03702	0.165000	0.22458	-0.746000	0.04829	-1.275000	0.02417	-0.142000	0.14014	GCA	IDO2	-	pfam_Indolamine_dOase	ENSG00000188676		0.488	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	HGNC	protein_coding	OTTHUMT00000372742.1	-	0.00	65	0	C	NM_194294		39871110	+1	tier1	-	no_errors	ENST00000502986	ensembl	human	known	74_37	missense	35.29	55	30	SNP	0.000	T
IDO2	169355	genome.wustl.edu	37	8	39871188	39871188	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:39871188A>G	ENST00000389060.4	+	9	824	c.824A>G	c.(823-825)cAt>cGt	p.H275R	IDO2_ENST00000502986.2_Missense_Mutation_p.H288R|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	275					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						ACAGTGCTTCATGCCTTTGAT	0.493																																																	0													83.0	79.0	80.0					8																	39871188		1939	4145	6084	SO:0001583	missense	0			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.824A>G	8.37:g.39871188A>G	ENSP00000426447:p.His275Arg		A4UD41	Missense_Mutation	SNP	pfam_Indolamine_dOase	p.H288R	ENST00000389060.4	37	c.863		8	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797583	0.70567	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.43294	0.95;0.95	5.48	5.48	0.80851	.	0.145914	0.64402	D	0.000008	T	0.62696	0.2449	M	0.84326	2.69	0.40449	D	0.980127	D;D	0.55605	0.965;0.972	P;P	0.57468	0.726;0.821	T	0.68432	-0.5410	9	.	.	.	.	15.1023	0.72288	1.0:0.0:0.0:0.0	.	288;275	F5H5G0;Q6ZQW0	.;I23O2_HUMAN	R	288;275	ENSP00000443432:H288R;ENSP00000426447:H275R	.	H	+	2	0	IDO2	39990345	1.000000	0.71417	0.490000	0.27465	0.623000	0.37688	8.644000	0.91044	2.218000	0.71995	0.529000	0.55759	CAT	IDO2	-	pfam_Indolamine_dOase	ENSG00000188676		0.493	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	HGNC	protein_coding	OTTHUMT00000372742.1	-	0.00	89	0	A	NM_194294		39871188	+1	tier1	-	no_errors	ENST00000502986	ensembl	human	known	74_37	missense	14.29	108	18	SNP	0.993	G
IFI44	10561	genome.wustl.edu	37	1	79129487	79129487	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:79129487delA	ENST00000370747.4	+	9	1411	c.1326delA	c.(1324-1326)ggafs	p.G442fs	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	442					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						GTGCACAAGGAAAAAAATAGA	0.358																																																	0													115.0	107.0	110.0					1																	79129487		2203	4300	6503	SO:0001589	frameshift_variant	0			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.1326delA	1.37:g.79129487delA	ENSP00000359783:p.Gly442fs		B7ZAG3|D3DQ80|Q14496	Frame_Shift_Del	DEL	pfam_TLDc,superfamily_P-loop_NTPase	p.K444fs	ENST00000370747.4	37	c.1326	CCDS688.1	1																																																																																			IFI44	-	NULL	ENSG00000137965		0.358	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44	HGNC	protein_coding	OTTHUMT00000026825.1		0.00	45	0	A	NM_006417		79129487	+1	tier1		no_errors	ENST00000370747	ensembl	human	known	74_37	frame_shift_del	31.34	46	21	DEL	0.000	-
IFNB1	3456	genome.wustl.edu	37	9	21077745	21077745	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:21077745G>T	ENST00000380232.2	-	1	198	c.124C>A	c.(124-126)Ctg>Atg	p.L42M		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	42					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		AATTGCCACAGGAGCTTCTGA	0.468																																																	0													56.0	57.0	57.0					9																	21077745		2203	4300	6503	SO:0001583	missense	0				CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"""Interferons"""	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.124C>A	9.37:g.21077745G>T	ENSP00000369581:p.Leu42Met		Q5VWC9	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.L42M	ENST00000380232.2	37	c.124	CCDS6495.1	9	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663283	0.67700	.	.	ENSG00000171855	ENST00000380232	T	0.46451	0.87	5.42	5.42	0.78866	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.64402	D	0.000002	T	0.71854	0.3389	M	0.91612	3.225	0.47065	D	0.999303	D	0.89917	1.0	D	0.97110	1.0	T	0.77236	-0.2662	10	0.62326	D	0.03	-9.2211	16.2451	0.82437	0.0:0.0:1.0:0.0	.	42	P01574	IFNB_HUMAN	M	42	ENSP00000369581:L42M	ENSP00000369581:L42M	L	-	1	2	IFNB1	21067745	0.991000	0.36638	0.962000	0.40283	0.645000	0.38454	1.305000	0.33493	2.820000	0.97059	0.650000	0.86243	CTG	IFNB1	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core	ENSG00000171855		0.468	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNB1	HGNC	protein_coding	OTTHUMT00000051881.1	-	0.00	40	0	G	NM_002176		21077745	-1	tier1	-	no_errors	ENST00000380232	ensembl	human	known	74_37	missense	48.15	14	13	SNP	0.996	T
IFNE	338376	genome.wustl.edu	37	9	21481450	21481450	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:21481450G>T	ENST00000448696.3	-	1	862	c.244C>A	c.(244-246)Cat>Aat	p.H82N	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	82					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.H82Y(1)		large_intestine(2)|lung(1)|skin(1)	4						AGCATCTCATGGAGAATGGCC	0.453																																																	1	Substitution - Missense(1)	skin(1)											93.0	87.0	89.0					9																	21481450		2203	4300	6503	SO:0001583	missense	0			AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.244C>A	9.37:g.21481450G>T	ENSP00000418018:p.His82Asn			Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.H82N	ENST00000448696.3	37	c.244	CCDS34997.1	9	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642030	0.29157	.	.	ENSG00000184995	ENST00000448696	T	0.03635	3.86	4.93	3.09	0.35607	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.632498	0.14286	U	0.329190	T	0.12178	0.0296	M	0.86805	2.84	0.29758	N	0.83581	P	0.46706	0.883	P	0.49140	0.601	T	0.02958	-1.1089	10	0.87932	D	0	.	9.2369	0.37473	0.1516:0.0:0.8484:0.0	.	82	Q86WN2	IFNE_HUMAN	N	82	ENSP00000418018:H82N	ENSP00000418018:H82N	H	-	1	0	IFNE	21471450	0.995000	0.38212	0.715000	0.30552	0.048000	0.14542	2.658000	0.46733	0.783000	0.33636	0.655000	0.94253	CAT	IFNE	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	ENSG00000184995		0.453	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNE	HGNC	protein_coding	OTTHUMT00000051901.2		0.00	21	0	G	NM_176891		21481450	-1			no_errors	ENST00000448696	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.858	T
IFNL2	282616	genome.wustl.edu	37	19	39760216	39760216	+	Missense_Mutation	SNP	T	T	G	rs577580465	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:39760216T>G	ENST00000331982.5	+	4	414	c.359T>G	c.(358-360)gTg>gGg	p.V120G		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	120					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CCAGCCCTGGTGGACGTCTTG	0.647													T|||	5	0.000998403	0.003	0.0	5008	,	,		15676	0.001		0.0	False		,,,				2504	0.0																0													67.0	71.0	69.0					19																	39760216		2203	4300	6503	SO:0001583	missense	0			AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.359T>G	19.37:g.39760216T>G	ENSP00000333639:p.Val120Gly		Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	NULL	p.V120G	ENST00000331982.5	37	c.359	CCDS42567.1	19	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.777293	0.00640	.	.	ENSG00000183709	ENST00000331982	T	0.29142	1.58	3.2	-3.39	0.04868	.	1.213040	0.05846	N	0.620271	T	0.06050	0.0157	N	0.00666	-1.275	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26710	-1.0095	10	0.06365	T	0.9	-3.3813	0.2566	0.00212	0.2351:0.1654:0.2519:0.3477	.	120	Q8IZJ0	IL28A_HUMAN	G	120	ENSP00000333639:V120G	ENSP00000333639:V120G	V	+	2	0	IL28A	44452056	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	-0.479000	0.06567	-0.420000	0.07427	-0.869000	0.02991	GTG	IFNL2	-	NULL	ENSG00000183709		0.647	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNL2	HGNC	protein_coding	OTTHUMT00000463833.1	-	0.00	140	0	T	NM_172138		39760216	+1	tier1	-	no_errors	ENST00000331982	ensembl	human	known	74_37	missense	10.34	129	15	SNP	0.001	G
IFNL3	282617	genome.wustl.edu	37	19	39734490	39734490	+	Missense_Mutation	SNP	G	G	A	rs139076671	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:39734490G>A	ENST00000413851.2	-	4	504	c.466C>T	c.(466-468)Cac>Tac	p.H156Y		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	156				H -> Y (in Ref. 2; AAN86127). {ECO:0000305}.	defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											TGGAGCCGGTGCAGCCAATGG	0.692													G|||	71	0.0141773	0.0045	0.0836	5008	,	,		14602	0.003		0.004	False		,,,				2504	0.0																0													31.0	39.0	36.0					19																	39734490		2202	4296	6498	SO:0001583	missense	0			AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.466C>T	19.37:g.39734490G>A	ENSP00000409000:p.His156Tyr		A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	NULL	p.H156Y	ENST00000413851.2	37	c.466	CCDS12530.1	19	39	0.017857142857142856	5	0.01016260162601626	14	0.03867403314917127	7	0.012237762237762238	13	0.017150395778364115	G	17.47	3.398422	0.62177	.	.	ENSG00000197110	ENST00000413851	T	0.33216	1.42	3.95	3.95	0.45737	.	0.703032	0.14003	N	0.347987	T	0.16642	0.0400	M	0.84683	2.71	0.32763	N	0.504876	D	0.64830	0.994	P	0.49683	0.619	T	0.55341	-0.8156	10	0.49607	T	0.09	-0.0039	11.8255	0.52265	0.0:0.0:1.0:0.0	.	156	Q8IZI9	IL28B_HUMAN	Y	156	ENSP00000409000:H156Y	ENSP00000409000:H156Y	H	-	1	0	IL28B	44426330	0.995000	0.38212	0.961000	0.40146	0.263000	0.26337	2.062000	0.41413	1.934000	0.56057	0.205000	0.17691	CAC	IFNL3	-	NULL	ENSG00000197110		0.692	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNL3	HGNC	protein_coding	OTTHUMT00000463832.1		0.00	207	0	G	NM_172139		39734490	-1			no_errors	ENST00000413851	ensembl	human	known	74_37	missense	9.09	90	9	SNP	0.959	A
IFNL3	282617	genome.wustl.edu	37	19	39734659	39734659	+	Missense_Mutation	SNP	G	G	A	rs149832972	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:39734659G>A	ENST00000413851.2	-	3	435	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	133					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CAGGCCCGGAGCTGGGAGAGG	0.672													G|||	3	0.000599042	0.0	0.0	5008	,	,		15848	0.001		0.002	False		,,,				2504	0.0																0													54.0	60.0	58.0					19																	39734659		2203	4300	6503	SO:0001583	missense	0			AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.397C>T	19.37:g.39734659G>A	ENSP00000409000:p.Leu133Phe		A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	NULL	p.L133F	ENST00000413851.2	37	c.397	CCDS12530.1	19	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670145	0.29693	.	.	ENSG00000197110	ENST00000413851	T	0.48201	0.82	3.86	-0.448	0.12230	.	0.360877	0.23742	N	0.045011	T	0.65015	0.2651	M	0.87269	2.87	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.53415	-0.8442	10	0.56958	D	0.05	-5.2703	6.2685	0.20941	0.0:0.1744:0.4709:0.3547	.	133	Q8IZI9	IL28B_HUMAN	F	133	ENSP00000409000:L133F	ENSP00000409000:L133F	L	-	1	0	IL28B	44426499	0.170000	0.23016	0.167000	0.22817	0.344000	0.29017	0.542000	0.23222	0.166000	0.19597	0.205000	0.17691	CTC	IFNL3	-	NULL	ENSG00000197110		0.672	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNL3	HGNC	protein_coding	OTTHUMT00000463832.1	-	0.00	138	0	G	NM_172139		39734659	-1	tier1	rs149832972	no_errors	ENST00000413851	ensembl	human	known	74_37	missense	8.54	75	7	SNP	0.018	A
IFNL2	282616	genome.wustl.edu	37	19	39760143	39760143	+	Missense_Mutation	SNP	A	A	G	rs11670676	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:39760143A>G	ENST00000331982.5	+	4	341	c.286A>G	c.(286-288)Atg>Gtg	p.M96V		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	96					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											GGAGCGCCCCATGGCTTTGGA	0.622													a|||	5	0.000998403	0.0038	0.0	5008	,	,		16496	0.0		0.0	False		,,,				2504	0.0																0								G	VAL/MET	21,4385	25.3+/-52.1	0,21,2182	36.0	40.0	38.0		286	-6.4	0.0	19	dbSNP_120	38	6,8594	5.0+/-18.6	0,6,4294	no	missense	IL28A	NM_172138.1	21	0,27,6476	GG,GA,AA		0.0698,0.4766,0.2076	benign	96/201	39760143	27,12979	2203	4300	6503	SO:0001583	missense	0			AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.286A>G	19.37:g.39760143A>G	ENSP00000333639:p.Met96Val		Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	NULL	p.M96V	ENST00000331982.5	37	c.286	CCDS42567.1	19	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.301165	0.00019	0.004766	6.98E-4	ENSG00000183709	ENST00000331982	T	0.26067	1.76	3.2	-6.4	0.01944	.	1.431730	0.04214	N	0.332333	T	0.05227	0.0139	N	0.00468	-1.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32481	-0.9905	10	0.02654	T	1	-1.5885	7.9773	0.30161	0.6374:0.1243:0.2383:0.0	rs11670676	96	Q8IZJ0	IL28A_HUMAN	V	96	ENSP00000333639:M96V	ENSP00000333639:M96V	M	+	1	0	IL28A	44451983	0.000000	0.05858	0.015000	0.15790	0.089000	0.18198	-1.738000	0.01842	-1.962000	0.01014	-2.221000	0.00296	ATG	IFNL2	-	NULL	ENSG00000183709		0.622	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNL2	HGNC	protein_coding	OTTHUMT00000463833.1		0.00	100	0	A	NM_172138		39760143	+1			no_errors	ENST00000331982	ensembl	human	known	74_37	missense	9.90	91	10	SNP	0.009	G
IFNL2	282616	genome.wustl.edu	37	19	39760220	39760220	+	Silent	SNP	C	C	T	rs545058782	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:39760220C>T	ENST00000331982.5	+	4	418	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	121					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CCCTGGTGGACGTCTTGGACC	0.647													C|||	6	0.00119808	0.003	0.0	5008	,	,		15647	0.001		0.0	False		,,,				2504	0.001																0													68.0	72.0	71.0					19																	39760220		2203	4300	6503	SO:0001819	synonymous_variant	0			AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.363C>T	19.37:g.39760220C>T			Q45KQ8|Q6VN55|Q8IWL7	Silent	SNP	NULL	p.D121	ENST00000331982.5	37	c.363	CCDS42567.1	19																																																																																			IFNL2	-	NULL	ENSG00000183709		0.647	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNL2	HGNC	protein_coding	OTTHUMT00000463833.1	-	0.00	145	0	C	NM_172138		39760220	+1	tier1	-	no_errors	ENST00000331982	ensembl	human	known	74_37	silent	11.69	136	18	SNP	0.000	T
IFT172	26160	genome.wustl.edu	37	2	27682634	27682634	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:27682634delC	ENST00000260570.3	-	24	2687	c.2584delG	c.(2584-2586)gacfs	p.D862fs		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	862					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACCAGGTGGTCCCCCCATGCC	0.527																																																	0													191.0	181.0	184.0					2																	27682634		2203	4300	6503	SO:0001589	frameshift_variant	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2584delG	2.37:g.27682634delC	ENSP00000260570:p.Asp862fs		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.D862fs	ENST00000260570.3	37	c.2584	CCDS1755.1	2																																																																																			IFT172	-	NULL	ENSG00000138002		0.527	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2		0.00	84	0	C	NM_015662		27682634	-1	tier1		no_errors	ENST00000260570	ensembl	human	known	74_37	frame_shift_del	28.12	69	27	DEL	1.000	-
IFT172	26160	genome.wustl.edu	37	2	27695198	27695198	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:27695198G>A	ENST00000260570.3	-	15	1546	c.1443C>T	c.(1441-1443)acC>acT	p.T481T	IFT172_ENST00000416524.2_Silent_p.T460T|IFT172_ENST00000359466.6_Silent_p.T481T	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	481					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CATGGCTGACGGTGCCAATGT	0.468																																																	0													115.0	109.0	111.0					2																	27695198		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1443C>T	2.37:g.27695198G>A			A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.T481	ENST00000260570.3	37	c.1443	CCDS1755.1	2																																																																																			IFT172	-	superfamily_WD40_repeat_dom	ENSG00000138002		0.468	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	-	0.00	35	0	G	NM_015662		27695198	-1	tier1	-	no_errors	ENST00000260570	ensembl	human	known	74_37	silent	39.47	23	15	SNP	1.000	A
TRIM59	286827	genome.wustl.edu	37	3	160156368	160156368	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:160156368delT	ENST00000309784.4	-	3	789	c.604delA	c.(604-606)agtfs	p.S202fs	TRIM59_ENST00000543469.1_Frame_Shift_Del_p.S202fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Del_p.S202fs	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	202					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S202fs*3(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTTAGGAAACTTTTTTTTTTC	0.343																																																	1	Deletion - Frameshift(1)	ovary(1)											59.0	62.0	61.0					3																	160156368		2195	4299	6494	SO:0001589	frameshift_variant	0			AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.604delA	3.37:g.160156368delT	ENSP00000311219:p.Ser202fs		A8K5G9|D3DNL9	Frame_Shift_Del	DEL	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S202fs	ENST00000309784.4	37	c.604	CCDS3190.1	3																																																																																			RP11-432B6.3	-	NULL	ENSG00000248710		0.343	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT80	Clone_based_vega_gene	protein_coding	OTTHUMT00000352963.1		0.00	22	0	T	NM_173084		160156368	-1	tier1		no_errors	ENST00000483754	ensembl	human	known	74_37	frame_shift_del	42.86	12	9	DEL	0.000	-
IFT81	28981	genome.wustl.edu	37	12	110655906	110655906	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:110655906G>T	ENST00000242591.5	+	19	2412	c.1906G>T	c.(1906-1908)Gca>Tca	p.A636S	IFT81_ENST00000552912.1_Missense_Mutation_p.A636S	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	636					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TATGAAACAAGCAAAAATGTG	0.333																																																	0													109.0	100.0	103.0					12																	110655906		1835	4099	5934	SO:0001583	missense	0			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1906G>T	12.37:g.110655906G>T	ENSP00000242591:p.Ala636Ser		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	NULL	p.A636S	ENST00000242591.5	37	c.1906	CCDS41831.1	12	.	.	.	.	.	.	.	.	.	.	.	15.96	2.985893	0.53934	.	.	ENSG00000122970	ENST00000552912;ENST00000242591;ENST00000550748	.	.	.	5.22	5.22	0.72569	.	0.196812	0.53938	D	0.000042	T	0.32466	0.0830	L	0.36672	1.1	0.26590	N	0.97322	B	0.28400	0.21	B	0.31751	0.135	T	0.16808	-1.0390	9	0.10377	T	0.69	-2.3331	13.0191	0.58775	0.0847:0.0:0.9152:0.0	.	636	Q8WYA0	IFT81_HUMAN	S	636;636;67	.	ENSP00000242591:A636S	A	+	1	0	IFT81	109140289	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	4.117000	0.57877	2.605000	0.88082	0.579000	0.79373	GCA	IFT81	-	NULL	ENSG00000122970		0.333	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFT81	HGNC	protein_coding	OTTHUMT00000403529.1	-	0.00	78	0	G	NM_014055		110655906	+1	tier1	-	no_errors	ENST00000242591	ensembl	human	known	74_37	missense	8.22	67	6	SNP	0.997	T
IGF1R	3480	genome.wustl.edu	37	15	99442809	99442809	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:99442809delA	ENST00000268035.6	+	5	1817	c.1206delA	c.(1204-1206)ctafs	p.L402fs	IGF1R_ENST00000558762.1_Frame_Shift_Del_p.L402fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	402					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TGTCCTTCCTAAAAAACCTTC	0.493																																																	0													159.0	158.0	158.0					15																	99442809		2197	4297	6494	SO:0001589	frameshift_variant	0			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1206delA	15.37:g.99442809delA	ENSP00000268035:p.Leu402fs		B1B5Y2|Q14CV2|Q9UCC0	Frame_Shift_Del	DEL	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.N404fs	ENST00000268035.6	37	c.1206	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L	ENSG00000140443		0.493	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2		0.00	77	0	A	NM_000875		99442809	+1	tier1		no_errors	ENST00000268035	ensembl	human	known	74_37	frame_shift_del	32.53	56	27	DEL	0.966	-
IGF2	3481	genome.wustl.edu	37	11	2156651	2156651	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:2156651C>T	ENST00000416167.2	-	2	1269	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	IGF2_ENST00000418738.2_Missense_Mutation_p.G35R|IGF2_ENST00000434045.2_Missense_Mutation_p.G91R|IGF2_ENST00000381392.1_Missense_Mutation_p.G35R|IGF2_ENST00000300632.5_Missense_Mutation_p.G35R|IGF2_ENST00000381406.4_Missense_Mutation_p.G35R|IGF2_ENST00000381395.1_Missense_Mutation_p.G35R|IGF2_ENST00000381389.1_Missense_Mutation_p.G35R|MIR483_ENST00000385070.1_RNA			P01344	IGF2_HUMAN	insulin-like growth factor 2	35	B.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ACCAGCTCCCCGCCGCACAGG	0.617																																																	0													48.0	41.0	43.0					11																	2156651		2201	4299	6500	SO:0001583	missense	0			M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.103G>A	11.37:g.2156651C>T	ENSP00000414497:p.Gly35Arg		B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Missense_Mutation	SNP	pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor	p.G91R	ENST00000416167.2	37	c.271	CCDS7728.1	11	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040297	0.75732	.	.	ENSG00000167244	ENST00000381395;ENST00000381406;ENST00000416167;ENST00000300632;ENST00000381319;ENST00000434045;ENST00000381392;ENST00000381389;ENST00000418738;ENST00000337883;ENST00000381379	D;D;D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	3.35	3.35	0.38373	Insulin-like (4);	0.000000	0.64402	U	0.000001	D	0.90604	0.7054	M	0.69248	2.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.91774	0.5430	10	0.87932	D	0	.	13.8761	0.63653	0.0:1.0:0.0:0.0	.	91;35	C9JAF2;P01344	.;IGF2_HUMAN	R	35;35;35;35;35;91;35;35;35;35;35	ENSP00000370802:G35R;ENSP00000370813:G35R;ENSP00000414497:G35R;ENSP00000300632:G35R;ENSP00000391826:G91R;ENSP00000370799:G35R;ENSP00000370796:G35R;ENSP00000402047:G35R;ENSP00000338297:G35R	ENSP00000300632:G35R	G	-	1	0	IGF2	2113227	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.812000	0.62613	1.898000	0.54952	0.456000	0.33151	GGG	IGF2	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin_family,prints_Insulin-like_growth_factor	ENSG00000167244		0.617	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2	HGNC	protein_coding	OTTHUMT00000026053.2	-	0.00	134	0	C	NM_000612		2156651	-1	tier1	-	no_errors	ENST00000434045	ensembl	human	known	74_37	missense	42.74	67	50	SNP	1.000	T
IGF2R	3482	genome.wustl.edu	37	6	160496984	160496984	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:160496984T>C	ENST00000356956.1	+	36	5420	c.5272T>C	c.(5272-5274)Tac>Cac	p.Y1758H		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1758					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GCATTTCAACTACACCTCGCT	0.488																																																	0													188.0	168.0	175.0					6																	160496984		2203	4300	6503	SO:0001583	missense	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5272T>C	6.37:g.160496984T>C	ENSP00000349437:p.Tyr1758His		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.Y1758H	ENST00000356956.1	37	c.5272	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	T	25.0	4.594367	0.86953	.	.	ENSG00000197081	ENST00000356956	T	0.12039	2.72	5.31	5.31	0.75309	Mannose-6-phosphate receptor, binding (1);	0.138466	0.50627	D	0.000103	T	0.30823	0.0777	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.07158	-1.0787	10	0.35671	T	0.21	-19.1058	15.5638	0.76273	0.0:0.0:0.0:1.0	.	1758	P11717	MPRI_HUMAN	H	1758	ENSP00000349437:Y1758H	ENSP00000349437:Y1758H	Y	+	1	0	IGF2R	160416974	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.092000	0.76930	2.132000	0.65825	0.533000	0.62120	TAC	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.488	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	-	0.00	143	0	T	NM_000876		160496984	+1	tier1	-	no_errors	ENST00000356956	ensembl	human	known	74_37	missense	30.58	84	37	SNP	1.000	C
IGFN1	91156	genome.wustl.edu	37	1	201179060	201179060	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:201179060C>T	ENST00000335211.4	+	12	5169	c.5039C>T	c.(5038-5040)gCt>gTt	p.A1680V	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AATTTGGGGGCTCCTGAGGGA	0.488																																																	0													25.0	21.0	22.0					1																	201179060		692	1591	2283	SO:0001583	missense	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.5039C>T	1.37:g.201179060C>T	ENSP00000334714:p.Ala1680Val		F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A1680V	ENST00000335211.4	37	c.5039	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	-	2.277	-0.365578	0.05069	.	.	ENSG00000163395	ENST00000335211	D	0.88277	-2.36	2.03	-4.07	0.03975	.	.	.	.	.	T	0.71074	0.3297	N	0.08118	0	0.09310	N	0.999995	.	.	.	.	.	.	T	0.60265	-0.7297	6	.	.	.	.	5.1769	0.15139	0.3372:0.3247:0.338:0.0	rs58792551	.	.	.	V	1680	ENSP00000334714:A1680V	.	A	+	2	0	IGFN1	199445683	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-5.686000	0.00105	-0.259000	0.09432	0.306000	0.20318	GCT	IGFN1	-	NULL	ENSG00000163395		0.488	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		-	0.00	124	0	C	NM_178275		201179060	+1	tier1	-	no_errors	ENST00000335211	ensembl	human	known	74_37	missense	27.37	130	49	SNP	0.001	T
IGLV6-57	28778	genome.wustl.edu	37	22	22550472	22550472	+	RNA	SNP	G	G	T	rs569660921	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:22550472G>T	ENST00000390285.3	+	0	235									immunoglobulin lambda variable 6-57																		AGCATTGCCAGCAACTATGTG	0.577																																																	0													43.0	45.0	44.0					22																	22550472		2022	4180	6202			0			Z73673		22q11.2	2012-02-08			ENSG00000211640	ENSG00000211640		"""Immunoglobulins / IGL locus"""	5927	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150996		22.37:g.22550472G>T				Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.S50I	ENST00000390285.3	37	c.149		22																																																																																			IGLV6-57	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000211640		0.577	IGLV6-57-001	KNOWN	mRNA_end_NF|basic|appris_principal	IG_V_gene	IGLV6-57	HGNC	IG_V_gene	OTTHUMT00000320861.3	-	0.00	42	0	G	NG_000002		22550472	+1	tier1	-	no_errors	ENST00000390285	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	T
IGLV6-57	28778	genome.wustl.edu	37	22	22550623	22550623	+	RNA	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:22550623G>T	ENST00000390285.3	+	0	386									immunoglobulin lambda variable 6-57																		TCTCTGGACTGAAGACTGAGG	0.532																																																	0													63.0	68.0	66.0					22																	22550623		2070	4221	6291			0			Z73673		22q11.2	2012-02-08			ENSG00000211640	ENSG00000211640		"""Immunoglobulins / IGL locus"""	5927	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150996		22.37:g.22550623G>T				Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.L100	ENST00000390285.3	37	c.300		22																																																																																			IGLV6-57	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000211640		0.532	IGLV6-57-001	KNOWN	mRNA_end_NF|basic|appris_principal	IG_V_gene	IGLV6-57	HGNC	IG_V_gene	OTTHUMT00000320861.3	-	0.00	43	0	G	NG_000002		22550623	+1	tier1	-	no_errors	ENST00000390285	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.000	T
IGSF10	285313	genome.wustl.edu	37	3	151164703	151164703	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:151164703A>G	ENST00000282466.3	-	4	3065	c.3066T>C	c.(3064-3066)atT>atC	p.I1022I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1022					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGGGCTGATAATCCGCCCCC	0.473																																																	0													76.0	79.0	78.0					3																	151164703		2203	4300	6503	SO:0001819	synonymous_variant	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3066T>C	3.37:g.151164703A>G			Q86YJ9|Q8N772|Q8NA84	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.I1022	ENST00000282466.3	37	c.3066	CCDS3160.1	3																																																																																			IGSF10	-	NULL	ENSG00000152580		0.473	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	-	0.00	40	0	A	NM_178822		151164703	-1	tier1	-	no_errors	ENST00000282466	ensembl	human	known	74_37	silent	45.45	24	20	SNP	0.001	G
IGSF10	285313	genome.wustl.edu	37	3	151165983	151165983	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:151165983G>T	ENST00000282466.3	-	4	1785	c.1786C>A	c.(1786-1788)Cat>Aat	p.H596N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	596	Ig-like C2-type 2.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGTAGAATGGCATGGAAGA	0.418																																																	0													117.0	103.0	108.0					3																	151165983		2203	4300	6503	SO:0001583	missense	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1786C>A	3.37:g.151165983G>T	ENSP00000282466:p.His596Asn		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.H596N	ENST00000282466.3	37	c.1786	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.611682	0.00835	.	.	ENSG00000152580	ENST00000282466	T	0.65916	-0.18	5.34	3.53	0.40419	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.736150	0.11628	N	0.545107	T	0.38214	0.1032	N	0.10809	0.05	0.09310	N	1	B	0.13145	0.007	B	0.20384	0.029	T	0.27088	-1.0084	10	0.17832	T	0.49	.	5.1417	0.14963	0.0765:0.2674:0.518:0.1382	.	596	Q6WRI0	IGS10_HUMAN	N	596	ENSP00000282466:H596N	ENSP00000282466:H596N	H	-	1	0	IGSF10	152648673	0.097000	0.21791	0.075000	0.20258	0.102000	0.19082	1.098000	0.31000	0.612000	0.30071	0.650000	0.86243	CAT	IGSF10	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000152580		0.418	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	-	0.00	59	0	G	NM_178822		151165983	-1	tier1	-	no_errors	ENST00000282466	ensembl	human	known	74_37	missense	35.19	35	19	SNP	0.291	T
IGSF9	57549	genome.wustl.edu	37	1	159899747	159899747	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:159899747G>A	ENST00000368094.1	-	16	2280	c.2083C>T	c.(2083-2085)Cgc>Tgc	p.R695C	IGSF9_ENST00000361509.3_Missense_Mutation_p.R679C|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	695	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCACGAGGCGGAACTCGTAG	0.682																																																	0													24.0	23.0	23.0					1																	159899747		2195	4296	6491	SO:0001583	missense	0			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2083C>T	1.37:g.159899747G>A	ENSP00000357073:p.Arg695Cys			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R695C	ENST00000368094.1	37	c.2083	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005993	0.54361	.	.	ENSG00000085552	ENST00000361509;ENST00000368094	T;T	0.60920	0.15;0.15	5.16	5.16	0.70880	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42294	D	0.000723	T	0.69415	0.3108	M	0.72353	2.195	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.70342	-0.4898	9	.	.	.	-17.5807	16.131	0.81442	0.0:0.0:1.0:0.0	.	695	Q9P2J2	TUTLA_HUMAN	C	679;695	ENSP00000355049:R679C;ENSP00000357073:R695C	.	R	-	1	0	IGSF9	158166371	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	5.692000	0.68256	2.399000	0.81585	0.561000	0.74099	CGC	IGSF9	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000085552		0.682	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	-	0.00	69	0	G	NM_020789		159899747	-1	tier1	-	no_errors	ENST00000368094	ensembl	human	known	74_37	missense	18.84	56	13	SNP	1.000	A
IGSF9B	22997	genome.wustl.edu	37	11	133795702	133795702	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:133795702G>A	ENST00000321016.8	-	14	2196	c.1966C>T	c.(1966-1968)Cgc>Tgc	p.R656C	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R656C			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	656	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AACTCCCAGCGCTCTGCGACA	0.592																																																	0													51.0	55.0	54.0					11																	133795702		2087	4230	6317	SO:0001583	missense	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1966C>T	11.37:g.133795702G>A	ENSP00000317980:p.Arg656Cys		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R656C	ENST00000321016.8	37	c.1966		11	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008147	0.75046	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.54675	0.56;0.56;0.56	5.35	5.35	0.76521	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.152000	0.31031	N	0.008381	T	0.67173	0.2865	L	0.61218	1.895	0.47476	D	0.999435	D	0.76494	0.999	D	0.65443	0.935	T	0.68918	-0.5282	10	0.59425	D	0.04	.	13.1768	0.59633	0.0:0.0:0.7321:0.2679	.	656	Q9UPX0	TUTLB_HUMAN	C	656;498;656	ENSP00000317980:R656C;ENSP00000436552:R498C;ENSP00000436576:R656C	ENSP00000317980:R656C	R	-	1	0	IGSF9B	133300912	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	3.196000	0.51020	2.504000	0.84457	0.655000	0.94253	CGC	IGSF9B	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000080854		0.592	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		-	0.00	67	0	G	XM_290502		133795702	-1	tier1	-	no_errors	ENST00000321016	ensembl	human	known	74_37	missense	43.14	29	22	SNP	1.000	A
IKBKAP	8518	genome.wustl.edu	37	9	111660955	111660955	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:111660955G>T	ENST00000374647.5	-	21	2586	c.2279C>A	c.(2278-2280)cCt>cAt	p.P760H	IKBKAP_ENST00000537196.1_Missense_Mutation_p.P411H	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	760					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGTTACCTTAGGGTTATGATC	0.333																																																	0													129.0	125.0	126.0					9																	111660955		2202	4300	6502	SO:0001583	missense	0			AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.2279C>A	9.37:g.111660955G>T	ENSP00000363779:p.Pro760His		Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3	p.P760H	ENST00000374647.5	37	c.2279	CCDS6773.1	9	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126340	0.77549	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.31769	1.48;1.48	5.35	4.45	0.53987	.	0.105482	0.64402	D	0.000003	T	0.63827	0.2544	M	0.93720	3.45	0.46096	D	0.998868	D	0.89917	1.0	D	0.97110	1.0	T	0.72830	-0.4174	10	0.66056	D	0.02	-9.4563	12.0966	0.53758	0.084:0.0:0.916:0.0	.	760	O95163	ELP1_HUMAN	H	760;411	ENSP00000363779:P760H;ENSP00000439367:P411H	ENSP00000363779:P760H	P	-	2	0	IKBKAP	110700776	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	9.585000	0.98223	1.399000	0.46721	0.650000	0.86243	CCT	IKBKAP	-	pfam_IKI3,pirsf_IKI3	ENSG00000070061		0.333	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKAP	HGNC	protein_coding	OTTHUMT00000053574.1	-	0.00	51	0	G			111660955	-1	tier1	-	no_errors	ENST00000374647	ensembl	human	known	74_37	missense	9.52	57	6	SNP	1.000	T
IL13RA1	3597	genome.wustl.edu	37	X	117904307	117904307	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:117904307G>A	ENST00000371666.3	+	8	1076				IL13RA1_ENST00000371637.3_Missense_Mutation_p.R27H	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1						cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TGGAGGTGCCGCGCTACCGCA	0.627																																																	0																																										SO:0001627	intron_variant	0			U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.1009+3368G>A	X.37:g.117904307G>A			O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	NULL	p.R27H	ENST00000371666.3	37	c.80	CCDS14573.1	X	.	.	.	.	.	.	.	.	.	.	G	7.050	0.564197	0.13498	.	.	ENSG00000131724	ENST00000371637	.	.	.	0.225	-0.451	0.12214	.	.	.	.	.	T	0.25344	0.0616	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28364	-1.0046	4	0.51188	T	0.08	.	.	.	.	.	.	.	.	H	27	.	ENSP00000360700:R27H	R	+	2	0	IL13RA1	117788335	0.000000	0.05858	0.004000	0.12327	0.005000	0.04900	-1.580000	0.02121	-1.999000	0.00967	-1.986000	0.00452	CGC	IL13RA1	-	NULL	ENSG00000131724		0.627	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA1	HGNC	protein_coding	OTTHUMT00000058009.1	-	0.00	53	0	G	NM_001560		117904307	+1	tier1	-	no_errors	ENST00000371637	ensembl	human	known	74_37	missense	79.17	5	19	SNP	0.000	A
IL15RA	3601	genome.wustl.edu	37	10	6008125	6008125	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:6008125G>T	ENST00000379977.3	-	2	363	c.266C>A	c.(265-267)cCc>cAc	p.P89H	IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000528354.1_Missense_Mutation_p.P89H|IL15RA_ENST00000525219.2_Missense_Mutation_p.P53H|IL15RA_ENST00000397255.3_Missense_Mutation_p.P89H|IL15RA_ENST00000397250.2_Intron|IL15RA_ENST00000379971.1_Intron|IL15RA_ENST00000397251.3_Intron|IL15RA_ENST00000530685.1_Missense_Mutation_p.P89H|IL15RA_ENST00000397248.2_Missense_Mutation_p.P53H			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	89	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						TTTGAGACTGGGGGTTGTCCA	0.577																																																	0													73.0	69.0	71.0					10																	6008125		2203	4300	6503	SO:0001583	missense	0			U31628	CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1	10p15.1	2012-02-27			ENSG00000134470	ENSG00000134470		"""Interleukins and interleukin receptors"", ""CD molecules"""	5978	protein-coding gene	gene with protein product		601070				8530383	Standard	NM_002189		Approved	CD215, IL-15RA	uc021pmo.1	Q13261	OTTHUMG00000017612	ENST00000379977.3:c.266C>A	10.37:g.6008125G>T	ENSP00000369312:p.Pro89His		B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609	Missense_Mutation	SNP	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P89H	ENST00000379977.3	37	c.266	CCDS7074.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.73|13.73	2.323822|2.323822	0.41096|0.41096	.|.	.|.	ENSG00000134470|ENSG00000134470	ENST00000397246;ENST00000379977;ENST00000397248;ENST00000319465;ENST00000528354;ENST00000530685;ENST00000397255;ENST00000429135;ENST00000453922|ENST00000532039	T;T;T;T;T;T;T;T|T	0.29397|0.25749	1.71;1.57;1.57;1.71;1.71;1.57;1.71;1.57|1.78	4.8|4.8	4.8|4.8	0.61643|0.61643	Complement control module (2);Sushi/SCR/CCP (2);|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.40372|0.40372	0.1114|0.1114	L|L	0.60455|0.60455	1.87|1.87	0.38263|0.38263	D|D	0.941932|0.941932	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.44314|0.44314	-0.9336|-0.9336	10|8	0.87932|0.87932	D|D	0|0	-10.9982|-10.9982	13.3557|13.3557	0.60627|0.60627	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	89;89|.	Q13261-3;Q13261|.	.;I15RA_HUMAN|.	H|T	53;89;53;53;89;89;89;89;53|60	ENSP00000380420:P53H;ENSP00000369312:P89H;ENSP00000380421:P53H;ENSP00000435454:P89H;ENSP00000435995:P89H;ENSP00000380426:P89H;ENSP00000395113:P89H;ENSP00000405107:P53H|ENSP00000432691:P60T	ENSP00000322245:P53H|ENSP00000432691:P60T	P|P	-|-	2|1	0|0	IL15RA|IL15RA	6048131|6048131	1.000000|1.000000	0.71417|0.71417	0.858000|0.858000	0.33744|0.33744	0.128000|0.128000	0.20619|0.20619	4.223000|4.223000	0.58587|0.58587	2.195000|2.195000	0.70347|0.70347	0.462000|0.462000	0.41574|0.41574	CCC|CCA	IL15RA	-	superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000134470		0.577	IL15RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL15RA	HGNC	protein_coding	OTTHUMT00000046615.2	-	0.00	40	0	G	NM_172200, NM_002189		6008125	-1	tier1	-	no_errors	ENST00000379977	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.981	T
IL16	3603	genome.wustl.edu	37	15	81598438	81598438	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:81598438C>T	ENST00000302987.4	+	16	3610	c.3610C>T	c.(3610-3612)Ccc>Tcc	p.P1204S	IL16_ENST00000394660.2_Missense_Mutation_p.P1204S|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Missense_Mutation_p.P503S			Q14005	IL16_HUMAN	interleukin 16	1204					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AGAGGCCATGCCCGACCTCAA	0.562																																																	0													95.0	97.0	96.0					15																	81598438		2203	4300	6503	SO:0001583	missense	0			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3610C>T	15.37:g.81598438C>T	ENSP00000302935:p.Pro1204Ser		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16	p.P1204S	ENST00000302987.4	37	c.3610	CCDS42069.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.884|2.884	-0.231115|-0.231115	0.05983|0.05983	.|.	.|.	ENSG00000172349|ENSG00000172349	ENST00000329842|ENST00000394660;ENST00000355368;ENST00000302987;ENST00000394653;ENST00000394652;ENST00000394656	.|T;T;T	.|0.38560	.|2.69;1.13;1.13	5.17|5.17	1.76|1.76	0.24704|0.24704	.|PDZ/DHR/GLGF (2);	.|0.665589	.|0.13213	.|N	.|0.405050	T|T	0.30448|0.30448	0.0765|0.0765	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.28178	.|0.064;0.024;0.202;0.001;0.0	.|B;B;B;B;B	.|0.25987	.|0.065;0.027;0.03;0.002;0.006	T|T	0.31668|0.31668	-0.9935|-0.9935	6|10	0.87932|0.02654	D|T	0|1	.|.	8.3204|8.3204	0.32126|0.32126	0.3161:0.5451:0.1388:0.0|0.3161:0.5451:0.1388:0.0	.|.	.|1036;697;594;1204;1204	.|F8W7Z5;Q6ZTT5;B3KY62;Q14005;Q14005-2	.|.;.;.;IL16_HUMAN;.	V|S	714|1204;1036;1204;594;503;503	.|ENSP00000378155:P1204S;ENSP00000302935:P1204S;ENSP00000378147:P503S	ENSP00000329317:A714V|ENSP00000302935:P1204S	A|P	+|+	2|1	0|0	IL16|IL16	79385493|79385493	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	0.801000|0.801000	0.27055|0.27055	0.528000|0.528000	0.28580|0.28580	0.655000|0.655000	0.94253|0.94253	GCC|CCC	IL16	-	superfamily_PDZ	ENSG00000172349		0.562	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL16	HGNC	protein_coding	OTTHUMT00000303952.1	-	0.00	33	0	C	NM_172217		81598438	+1	tier1	-	no_errors	ENST00000302987	ensembl	human	known	74_37	missense	25.93	20	7	SNP	0.000	T
IL17RC	84818	genome.wustl.edu	37	3	9962221	9962221	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:9962221T>C	ENST00000295981.3	+	6	943	c.725T>C	c.(724-726)gTa>gCa	p.V242A	RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000403601.3_Missense_Mutation_p.V171A|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000416074.2_Missense_Mutation_p.V42A|IL17RC_ENST00000413608.1_Missense_Mutation_p.V171A|IL17RC_ENST00000455057.1_Missense_Mutation_p.V171A|IL17RC_ENST00000383812.4_Missense_Mutation_p.V171A	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	242					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGGAGTGAGGTACGAATCTGG	0.597																																																	0													80.0	67.0	71.0					3																	9962221		2203	4299	6502	SO:0001583	missense	0			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.725T>C	3.37:g.9962221T>C	ENSP00000295981:p.Val242Ala		E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Missense_Mutation	SNP	pfam_SEFIR	p.V242A	ENST00000295981.3	37	c.725	CCDS2590.1	3	.	.	.	.	.	.	.	.	.	.	T	17.72	3.458401	0.63401	.	.	ENSG00000163702	ENST00000383812;ENST00000438091;ENST00000295981;ENST00000436503;ENST00000403601;ENST00000416074;ENST00000455057;ENST00000413608	T;T;T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4;2.4;2.4	5.5	5.5	0.81552	.	0.123119	0.36444	N	0.002593	T	0.38665	0.1049	M	0.68952	2.095	0.29551	N	0.851354	P;D;P;P;D;D;P;D;D	0.76494	0.948;0.999;0.805;0.805;0.999;0.999;0.877;0.991;0.999	P;D;B;B;P;P;B;P;D	0.74023	0.475;0.982;0.211;0.211;0.868;0.868;0.38;0.82;0.982	T	0.35919	-0.9769	10	0.87932	D	0	-13.6574	12.2959	0.54847	0.0:0.0:0.0:1.0	.	171;42;171;171;171;171;171;242;171	Q8NAC3-4;F5H4Z2;E9PHG1;A8BWD5;E9PHJ6;A8BWC9;Q8NAC3-3;Q8NAC3;Q8NAC3-2	.;.;.;.;.;.;.;I17RC_HUMAN;.	A	171;146;242;146;171;42;171;171	ENSP00000373323:V171A;ENSP00000414609:V146A;ENSP00000295981:V242A;ENSP00000401128:V146A;ENSP00000384969:V171A;ENSP00000395315:V42A;ENSP00000407894:V171A;ENSP00000396064:V171A	ENSP00000295981:V242A	V	+	2	0	IL17RC	9937221	0.998000	0.40836	0.968000	0.41197	0.449000	0.32228	4.038000	0.57318	2.227000	0.72691	0.460000	0.39030	GTA	IL17RC	-	NULL	ENSG00000163702		0.597	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL17RC	HGNC	protein_coding	OTTHUMT00000250526.2	-	0.00	57	0	T	NM_032732		9962221	+1	tier1	-	no_errors	ENST00000295981	ensembl	human	known	74_37	missense	46.00	27	23	SNP	0.980	C
IL17RD	54756	genome.wustl.edu	37	3	57131680	57131680	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:57131680G>A	ENST00000296318.7	-	12	2139	c.2051C>T	c.(2050-2052)aCg>aTg	p.T684M	IL17RD_ENST00000320057.5_Missense_Mutation_p.T540M|IL17RD_ENST00000463523.1_Missense_Mutation_p.T540M|IL17RD_ENST00000427856.2_Missense_Mutation_p.T660M	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	684					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TGTCTGGTCCGTCGAGAGTCC	0.617																																																	0													45.0	37.0	40.0					3																	57131680		2203	4300	6503	SO:0001583	missense	0			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.2051C>T	3.37:g.57131680G>A	ENSP00000296318:p.Thr684Met		Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	pfam_SEFIR,superfamily_TIR_dom	p.T684M	ENST00000296318.7	37	c.2051	CCDS2880.2	3	.	.	.	.	.	.	.	.	.	.	G	5.115	0.206849	0.09704	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.10382	2.88;2.89;2.88;2.89	5.91	2.75	0.32379	.	1.075620	0.07052	N	0.832136	T	0.11024	0.0269	L	0.34521	1.04	0.09310	N	1	B;B;B	0.18610	0.017;0.005;0.029	B;B;B	0.13407	0.006;0.004;0.009	T	0.34625	-0.9821	10	0.39692	T	0.17	-5.264	12.4313	0.55575	0.2117:0.0:0.7883:0.0	.	540;684;660	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	M	684;540;660;540	ENSP00000296318:T684M;ENSP00000322250:T540M;ENSP00000399209:T660M;ENSP00000417516:T540M	ENSP00000296318:T684M	T	-	2	0	IL17RD	57106720	0.654000	0.27367	0.001000	0.08648	0.053000	0.15095	4.035000	0.57297	0.843000	0.35070	0.655000	0.94253	ACG	IL17RD	-	NULL	ENSG00000144730		0.617	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	HGNC	protein_coding	OTTHUMT00000316680.1	-	0.00	59	0	G	NM_017563		57131680	-1	tier1	-	no_errors	ENST00000296318	ensembl	human	known	74_37	missense	30.00	42	18	SNP	0.000	A
IL17RD	54756	genome.wustl.edu	37	3	57132270	57132270	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:57132270G>A	ENST00000296318.7	-	12	1549	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	IL17RD_ENST00000320057.5_Silent_p.D343D|IL17RD_ENST00000463523.1_Silent_p.D343D|IL17RD_ENST00000427856.2_Silent_p.D463D	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	487	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TACCGGGGACGTCTCCCTCGC	0.567																																																	0													63.0	56.0	58.0					3																	57132270		2203	4300	6503	SO:0001819	synonymous_variant	0			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1461C>T	3.37:g.57132270G>A			Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Silent	SNP	pfam_SEFIR,superfamily_TIR_dom	p.D487	ENST00000296318.7	37	c.1461	CCDS2880.2	3																																																																																			IL17RD	-	pfam_SEFIR	ENSG00000144730		0.567	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	HGNC	protein_coding	OTTHUMT00000316680.1	-	0.00	30	0	G	NM_017563		57132270	-1	tier1	-	no_errors	ENST00000296318	ensembl	human	known	74_37	silent	26.67	11	4	SNP	0.983	A
IL19	29949	genome.wustl.edu	37	1	207010076	207010076	+	Silent	SNP	C	C	T	rs374799009		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:207010076C>T	ENST00000270218.6	+	3	1008	c.69C>T	c.(67-69)caC>caT	p.H23H	IL19_ENST00000340758.2_Silent_p.H61H	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	23					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TAGACAACCACGGTCTCAGGA	0.458																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	190.0	179.0	183.0		69,183	-6.6	0.0	1		183	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	IL19	NM_013371.3,NM_153758.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	23/178,61/216	207010076	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.69C>T	1.37:g.207010076C>T			B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Silent	SNP	pfam_IL-10/19/20/24/26_fam,superfamily_4_helix_cytokine-like_core,prints_IL-19,prints_IL-24	p.H61	ENST00000270218.6	37	c.183	CCDS1469.1	1																																																																																			IL19	-	superfamily_4_helix_cytokine-like_core	ENSG00000142224		0.458	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL19	HGNC	protein_coding	OTTHUMT00000088567.2	-	0.00	53	0	C	NM_153758		207010076	+1	tier1	-	no_errors	ENST00000340758	ensembl	human	known	74_37	silent	30.26	53	23	SNP	0.000	T
IL1RL1	9173	genome.wustl.edu	37	2	102956601	102956601	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:102956601delA	ENST00000233954.1	+	4	587	c.316delA	c.(316-318)aaafs	p.K107fs	IL1RL1_ENST00000311734.2_Frame_Shift_Del_p.K107fs|IL1RL1_ENST00000404917.2_5'UTR|IL1RL1_ENST00000393393.3_Frame_Shift_Del_p.K107fs|IL1RL1_ENST00000409584.1_Frame_Shift_Del_p.K107fs|IL1RL1_ENST00000473175.1_3'UTR	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	107					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CACCATATATAAAAAACAATC	0.308																																																	0													66.0	64.0	65.0					2																	102956601		2203	4299	6502	SO:0001589	frameshift_variant	0			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.316delA	2.37:g.102956601delA	ENSP00000233954:p.Lys107fs		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Frame_Shift_Del	DEL	pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL-1_rcpt_I/II-typ,pfscan_TIR_dom,pfscan_Ig-like_dom	p.K107fs	ENST00000233954.1	37	c.316	CCDS2057.1	2																																																																																			IL1RL1	-	NULL	ENSG00000115602		0.308	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL1	HGNC	protein_coding	OTTHUMT00000253296.1		0.00	25	0	A	NM_016232		102956601	+1	tier1		no_errors	ENST00000233954	ensembl	human	known	74_37	frame_shift_del	25.71	26	9	DEL	0.010	-
IL1RL2	8808	genome.wustl.edu	37	2	102851427	102851427	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:102851427G>A	ENST00000264257.2	+	11	1494	c.1368G>A	c.(1366-1368)tcG>tcA	p.S456S	IL1RL2_ENST00000441515.2_Silent_p.S338S|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Silent_p.S456S	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	456	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCCCCGAATCGCTGGGCTTTG	0.493																																																	0													102.0	101.0	101.0					2																	102851427		2203	4300	6503	SO:0001819	synonymous_variant	0			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1368G>A	2.37:g.102851427G>A			A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ	p.S456	ENST00000264257.2	37	c.1368	CCDS2056.1	2																																																																																			IL1RL2	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000115598		0.493	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL2	HGNC	protein_coding	OTTHUMT00000253290.1	-	0.00	70	0	G	NM_003854		102851427	+1	tier1	-	no_errors	ENST00000264257	ensembl	human	known	74_37	silent	30.86	56	25	SNP	0.000	A
IL36G	56300	genome.wustl.edu	37	2	113737642	113737643	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:113737642_113737643insA	ENST00000259205.4	+	4	286_287	c.217_218insA	c.(217-219)gatfs	p.D73fs	IL36G_ENST00000376489.2_Frame_Shift_Ins_p.D38fs	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	73					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						AGGCAGAGGGGATCCCATTTAT	0.416																																																	0																																										SO:0001589	frameshift_variant	0			AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"""Interleukins and interleukin receptors"""	15741	protein-coding gene	gene with protein product	"""interleukin-1 homolog 1"", ""interleukin 1-related protein 2"", ""interleukin-1 epsilon"""	605542	"""interleukin 1 family, member 9"""	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.218dupA	2.37:g.113737643_113737643dupA	ENSP00000259205:p.Asp73fs		Q56B91|Q6UVX7|Q7RTZ9	Frame_Shift_Ins	INS	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1	p.D73fs	ENST00000259205.4	37	c.217_218	CCDS2108.1	2																																																																																			IL36G	-	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1	ENSG00000136688		0.416	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL36G	HGNC	protein_coding	OTTHUMT00000330713.2		0.00	32	0	-	NM_019618		113737643	+1	tier1		no_errors	ENST00000259205	ensembl	human	known	74_37	frame_shift_ins	37.04	17	10	INS	0.000:0.000	A
ILK	3611	genome.wustl.edu	37	11	6629392	6629392	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:6629392delC	ENST00000396751.2	+	2	662	c.206delC	c.(205-207)accfs	p.T69fs	ILK_ENST00000299421.4_Frame_Shift_Del_p.T69fs|ILK_ENST00000528995.1_Frame_Shift_Del_p.T69fs|ILK_ENST00000537806.1_Intron|ILK_ENST00000420936.2_Frame_Shift_Del_p.T69fs|RP11-732A19.2_ENST00000527398.1_RNA	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	69	Interaction with LIMS1.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell junction assembly (GO:0034329)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|extracellular fibril organization (GO:0043206)|fibroblast migration (GO:0010761)|integrin-mediated signaling pathway (GO:0007229)|myelin assembly (GO:0032288)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|peptidyl-serine phosphorylation (GO:0018105)|platelet aggregation (GO:0070527)|positive regulation of axon extension (GO:0045773)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.L71fs*26(1)		central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GGGGATGACACCCCCCTGCAT	0.557																																																	1	Deletion - Frameshift(1)	ovary(1)											98.0	87.0	91.0					11																	6629392		2201	4296	6497	SO:0001589	frameshift_variant	0			U40282	CCDS7768.1, CCDS60712.1, CCDS60713.1	11p15.4	2014-09-17			ENSG00000166333	ENSG00000166333		"""Ankyrin repeat domain containing"""	6040	protein-coding gene	gene with protein product		602366				8538749	Standard	NM_004517		Approved		uc001mef.3	Q13418	OTTHUMG00000133407	ENST00000396751.2:c.206delC	11.37:g.6629392delC	ENSP00000379975:p.Thr69fs		B7Z1I0|B7Z418|D3DQU0|P57043|Q68DZ3	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L71fs	ENST00000396751.2	37	c.206	CCDS7768.1	11																																																																																			ILK	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000166333		0.557	ILK-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ILK	HGNC	protein_coding	OTTHUMT00000384519.1		0.00	91	0	C	NM_004517		6629392	+1	tier1		no_errors	ENST00000299421	ensembl	human	known	74_37	frame_shift_del	34.43	40	21	DEL	1.000	-
IMMT	10989	genome.wustl.edu	37	2	86385684	86385685	+	Intron	DEL	AA	AA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:86385684_86385685delAA	ENST00000410111.3	-	10	1550				IMMT_ENST00000409051.2_Intron|IMMT_ENST00000449247.2_Intron|Y_RNA_ENST00000363371.1_RNA|IMMT_ENST00000254636.5_Intron|IMMT_ENST00000490238.1_5'UTR|IMMT_ENST00000442664.2_Intron	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial						mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTAAAACATCAAAAAAAAAACA	0.396																																																	0																																										SO:0001627	intron_variant	0			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1162+29TT>-	2.37:g.86385692_86385693delAA			B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	RNA	DEL	-	NULL	ENST00000410111.3	37	NULL	CCDS46355.1	2																																																																																			IMMT	-	-	ENSG00000132305		0.396	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IMMT	HGNC	protein_coding	OTTHUMT00000329909.2		0.00	60	0	AA	NM_006839		86385685	-1	tier1		no_errors	ENST00000490238	ensembl	human	known	74_37	rna	31.15	42	19	DEL	0.000:0.000	-
IMPDH1	3614	genome.wustl.edu	37	7	128035269	128035269	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:128035269G>T	ENST00000480861.1	-	10	1128	c.1051C>A	c.(1051-1053)Cgc>Agc	p.R351S	IMPDH1_ENST00000419067.2_Missense_Mutation_p.R408S|IMPDH1_ENST00000496200.1_Missense_Mutation_p.R331S|IMPDH1_ENST00000338791.6_Missense_Mutation_p.R441S|IMPDH1_ENST00000378717.4_Missense_Mutation_p.R372S|IMPDH1_ENST00000470772.1_Missense_Mutation_p.R355S|IMPDH1_ENST00000348127.6_Missense_Mutation_p.R405S|IMPDH1_ENST00000343214.4_Missense_Mutation_p.R331S|IMPDH1_ENST00000354269.5_Missense_Mutation_p.R431S	NM_001142574.1	NP_001136046.1			IMP (inosine 5'-monophosphate) dehydrogenase 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22						ACACCAAAGCGCCGGGCATAC	0.632																																																	0													51.0	53.0	52.0					7																	128035269		2203	4300	6503	SO:0001583	missense	0				CCDS34748.1, CCDS34749.1, CCDS43643.1, CCDS47699.1, CCDS47700.1, CCDS55161.1	7q31.3-q32	2013-01-08	2010-04-29		ENSG00000106348	ENSG00000106348	1.1.1.205		6052	protein-coding gene	gene with protein product		146690	"""retinitis pigmentosa 10 (autosomal dominant)"", ""IMP (inosine monophosphate) dehydrogenase 1"""	RP10		1969416, 11875049, 11875050	Standard	NM_000883		Approved	sWSS2608, LCA11	uc003vmu.2	P20839	OTTHUMG00000157713	ENST00000480861.1:c.1051C>A	7.37:g.128035269G>T	ENSP00000420185:p.Arg351Ser			Missense_Mutation	SNP	pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH	p.R441S	ENST00000480861.1	37	c.1321	CCDS55161.1	7	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870897	0.51695	.	.	ENSG00000106348	ENST00000419067;ENST00000338791;ENST00000496200;ENST00000354269;ENST00000378717;ENST00000348127;ENST00000343214;ENST00000470772;ENST00000480861	T;T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.15	5.15	0.70609	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	T	0.72382	0.3453	L	0.53617	1.68	0.80722	D	1	P;B;B;B;B;B;B;B	0.36753	0.568;0.028;0.12;0.04;0.218;0.165;0.198;0.023	B;B;B;B;B;B;B;B	0.35770	0.21;0.072;0.15;0.103;0.103;0.062;0.103;0.043	T	0.75833	-0.3178	10	0.72032	D	0.01	-12.9653	11.2683	0.49122	0.0:0.0:0.8177:0.1823	.	408;351;356;372;431;405;441;331	C9JV30;B4DE09;P20839;E7EQS0;Q5H9Q6;P20839-3;A4D0Z6;P20839-2	.;.;IMDH1_HUMAN;.;.;.;.;.	S	408;441;331;431;372;405;331;355;351	ENSP00000399400:R408S;ENSP00000345096:R441S;ENSP00000420803:R331S;ENSP00000346219:R431S;ENSP00000367989:R372S;ENSP00000265385:R405S;ENSP00000342438:R331S;ENSP00000417296:R355S;ENSP00000420185:R351S	ENSP00000345096:R441S	R	-	1	0	IMPDH1	127822505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.250000	0.43178	2.409000	0.81822	0.561000	0.74099	CGC	IMPDH1	-	pfam_IMP_DH_GMPRt,pfam_2Npropane_dOase,pfam_FMN-dep_DH,tigrfam_IMP_DH	ENSG00000106348		0.632	IMPDH1-009	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	IMPDH1	HGNC	protein_coding	OTTHUMT00000349462.1	-	0.00	63	0	G	NM_000883		128035269	-1	tier1	-	no_errors	ENST00000338791	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
INO80	54617	genome.wustl.edu	37	15	41371904	41371904	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:41371904G>A	ENST00000361937.3	-	9	1550	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	INO80_ENST00000401393.3_Missense_Mutation_p.R376W			Q9ULG1	INO80_HUMAN	INO80 complex subunit	376	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO. {ECO:0000255|PROSITE- ProRule:PRU00746}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCTACCTCCCGCATTTCCTCA	0.418																																																	0													247.0	259.0	255.0					15																	41371904		2203	4300	6503	SO:0001583	missense	0			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1126C>T	15.37:g.41371904G>A	ENSP00000355205:p.Arg376Trp		A6H8X4|Q9NTG6	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R376W	ENST00000361937.3	37	c.1126	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008748	0.75046	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.93307	-3.2;-3.2	4.87	2.78	0.32641	DNA binding domain, INO80 (1);	0.000000	0.85682	D	0.000000	D	0.96405	0.8827	M	0.88377	2.95	0.53688	D	0.999973	D	0.89917	1.0	D	0.79784	0.993	D	0.95677	0.8729	10	0.49607	T	0.09	.	10.4479	0.44505	0.0:0.0:0.4896:0.5104	.	376	Q9ULG1	INO80_HUMAN	W	376	ENSP00000355205:R376W;ENSP00000384686:R376W	ENSP00000355205:R376W	R	-	1	2	INO80	39159196	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.402000	0.44521	1.238000	0.43771	0.591000	0.81541	CGG	INO80	-	NULL	ENSG00000128908		0.418	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	-	0.00	104	0	G	NM_017553		41371904	-1	tier1	-	no_errors	ENST00000361937	ensembl	human	known	74_37	missense	38.71	57	36	SNP	1.000	A
INO80D	54891	genome.wustl.edu	37	2	206882406	206882406	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:206882406delT	ENST00000403263.1	-	8	1944	c.1540delA	c.(1540-1542)atgfs	p.M514fs		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	514					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GAACTTACCATTTTTTTGGCA	0.388																																																	0													79.0	78.0	78.0					2																	206882406		1842	4090	5932	SO:0001589	frameshift_variant	0				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1540delA	2.37:g.206882406delT	ENSP00000384198:p.Met514fs		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Frame_Shift_Del	DEL	NULL	p.M514fs	ENST00000403263.1	37	c.1540	CCDS46500.1	2																																																																																			INO80D	-	NULL	ENSG00000114933		0.388	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1		0.00	59	0	T	NM_017759		206882406	-1	tier1		no_errors	ENST00000403263	ensembl	human	known	74_37	frame_shift_del	40.35	34	23	DEL	1.000	-
INPP4A	3631	genome.wustl.edu	37	2	99181151	99181151	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:99181151C>T	ENST00000523221.1	+	18	2092	c.2092C>T	c.(2092-2094)Cat>Tat	p.H698Y	INPP4A_ENST00000545415.1_Missense_Mutation_p.H659Y|INPP4A_ENST00000409851.3_Missense_Mutation_p.H693Y|INPP4A_ENST00000409540.3_Missense_Mutation_p.H659Y|INPP4A_ENST00000409016.4_Missense_Mutation_p.H659Y|INPP4A_ENST00000074304.5_Missense_Mutation_p.H698Y|INPP4A_ENST00000409463.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	698					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GAACTGCCTGCATGACGACGG	0.632																																																	0													33.0	37.0	36.0					2																	99181151		2112	4207	6319	SO:0001583	missense	0			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2092C>T	2.37:g.99181151C>T	ENSP00000427722:p.His698Tyr		O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	superfamily_C2_dom	p.H698Y	ENST00000523221.1	37	c.2092	CCDS46369.1	2	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959829	0.34565	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29	4.94	4.94	0.65067	.	0.165039	0.56097	D	0.000039	T	0.13500	0.0327	N	0.21282	0.65	0.43351	D	0.995419	P;P;P;P	0.47106	0.826;0.868;0.89;0.89	B;B;B;B	0.43508	0.187;0.259;0.422;0.422	T	0.06862	-1.0803	10	0.09084	T	0.74	-18.9361	17.3305	0.87262	0.0:1.0:0.0:0.0	.	659;659;698;693	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	Y	659;693;698;659;659;698	ENSP00000386704:H659Y;ENSP00000386777:H693Y;ENSP00000074304:H698Y;ENSP00000442149:H659Y;ENSP00000387294:H659Y;ENSP00000427722:H698Y	ENSP00000074304:H698Y	H	+	1	0	INPP4A	98547583	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	2.933000	0.48948	2.577000	0.86979	0.563000	0.77884	CAT	INPP4A	-	NULL	ENSG00000040933		0.632	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	HGNC	protein_coding	OTTHUMT00000376095.1	-	0.00	59	0	C	NM_001566		99181151	+1	tier1	-	no_errors	ENST00000074304	ensembl	human	known	74_37	missense	37.84	23	14	SNP	1.000	T
INPP5B	3633	genome.wustl.edu	37	1	38355359	38355359	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:38355359G>A	ENST00000373026.1	-	8	907	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	INPP5B_ENST00000373027.1_Missense_Mutation_p.R59C|INPP5B_ENST00000458109.2_5'Flank|INPP5B_ENST00000467066.1_5'Flank|INPP5B_ENST00000373024.3_Missense_Mutation_p.R223C|INPP5B_ENST00000373023.2_Missense_Mutation_p.R303C			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	303					in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTGGAGGAGCGAACCATGTCA	0.388																																																	0													155.0	143.0	147.0					1																	38355359		1844	4093	5937	SO:0001583	missense	0			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.907C>T	1.37:g.38355359G>A	ENSP00000362117:p.Arg303Cys		C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R303C	ENST00000373026.1	37	c.907		1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135758	0.77662	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	D;D;D;D	0.93906	-3.31;-3.18;-3.18;-3.15	5.76	5.76	0.90799	.	0.530995	0.20098	N	0.099296	D	0.96100	0.8729	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;0.999	P;D	0.65443	0.863;0.935	D	0.96063	0.9040	10	0.87932	D	0	.	14.76	0.69600	0.0:0.0:0.8555:0.1445	.	303;223	P32019;P32019-2	I5P2_HUMAN;.	C	59;303;303;303;223	ENSP00000362118:R59C;ENSP00000362114:R303C;ENSP00000362117:R303C;ENSP00000362115:R223C	ENSP00000362114:R303C	R	-	1	0	INPP5B	38127946	1.000000	0.71417	1.000000	0.80357	0.496000	0.33645	6.140000	0.71738	2.721000	0.93114	0.655000	0.94253	CGC	INPP5B	-	NULL	ENSG00000204084		0.388	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	HGNC	protein_coding	OTTHUMT00000012968.1	-	0.00	48	0	G	NM_005540		38355359	-1	tier1	-	no_errors	ENST00000373023	ensembl	human	known	74_37	missense	38.18	34	21	SNP	1.000	A
INSM2	84684	genome.wustl.edu	37	14	36005057	36005057	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:36005057delT	ENST00000307169.3	+	1	1810	c.1599delT	c.(1597-1599)actfs	p.T533fs		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GCCCGTCCACTTTTTTTAGCT	0.627																																																	0													32.0	34.0	33.0					14																	36005057		2199	4293	6492	SO:0001589	frameshift_variant	0			AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"""Zinc fingers, C2H2-type"""	17539	protein-coding gene	gene with protein product	"""mlt 1"""	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.1599delT	14.37:g.36005057delT	ENSP00000306523:p.Thr533fs		A1L432|J9Y024|Q8N8K7|Q96Q84	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F535fs	ENST00000307169.3	37	c.1599	CCDS9657.1	14																																																																																			INSM2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000168348		0.627	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSM2	HGNC	protein_coding	OTTHUMT00000276686.1		0.00	70	0	T			36005057	+1	tier1		no_errors	ENST00000307169	ensembl	human	known	74_37	frame_shift_del	33.33	38	19	DEL	0.624	-
INTS1	26173	genome.wustl.edu	37	7	1534466	1534466	+	Silent	SNP	G	G	T	rs560182626		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:1534466G>T	ENST00000404767.3	-	14	1981	c.1896C>A	c.(1894-1896)ccC>ccA	p.P632P	INTS1_ENST00000389470.4_Silent_p.P760P	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	632					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGTCACTCTCGGGTGGCCAGT	0.677																																																	0													60.0	62.0	61.0					7																	1534466		2070	4192	6262	SO:0001819	synonymous_variant	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1896C>A	7.37:g.1534466G>T			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.P760	ENST00000404767.3	37	c.2280	CCDS47526.1	7																																																																																			INTS1	-	NULL	ENSG00000164880		0.677	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	-	0.00	52	0	G			1534466	-1	tier1	-	no_errors	ENST00000389470	ensembl	human	known	74_37	silent	7.27	51	4	SNP	0.008	T
INTS10	55174	genome.wustl.edu	37	8	19684060	19684060	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:19684060delA	ENST00000397977.3	+	9	1528	c.1130delA	c.(1129-1131)gaafs	p.E377fs		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	377					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GAAGGAAGAGAAAAAACCATG	0.358																																																	0													85.0	79.0	81.0					8																	19684060		1838	4083	5921	SO:0001589	frameshift_variant	0			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1130delA	8.37:g.19684060delA	ENSP00000381064:p.Glu377fs		Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Frame_Shift_Del	DEL	NULL	p.T379fs	ENST00000397977.3	37	c.1130	CCDS6011.2	8																																																																																			INTS10	-	NULL	ENSG00000104613		0.358	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS10	HGNC	protein_coding	OTTHUMT00000253724.2		0.00	55	0	A	NM_018142		19684060	+1	tier1		no_errors	ENST00000397977	ensembl	human	known	74_37	frame_shift_del	21.33	59	16	DEL	1.000	-
INTS10	55174	genome.wustl.edu	37	8	19709225	19709225	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:19709225G>A	ENST00000397977.3	+	17	2440	c.2042G>A	c.(2041-2043)cGc>cAc	p.R681H		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	681					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GCCATGGAGCGCCAGGTCTCC	0.537																																																	0													106.0	108.0	108.0					8																	19709225		2056	4197	6253	SO:0001583	missense	0			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.2042G>A	8.37:g.19709225G>A	ENSP00000381064:p.Arg681His		Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	NULL	p.R681H	ENST00000397977.3	37	c.2042	CCDS6011.2	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.064078|5.064078	0.93898|0.93898	.|.	.|.	ENSG00000104613|ENSG00000104613	ENST00000523772|ENST00000397977;ENST00000520670	.|.	.|.	.|.	5.56|5.56	4.68|4.68	0.58851|0.58851	.|.	.|0.095561	.|0.64402	.|D	.|0.000001	T|T	0.53384|0.53384	0.1793|0.1793	L|L	0.61218|0.61218	1.895|1.895	0.58432|0.58432	D|D	0.999994|0.999994	.|P	.|0.45768	.|0.866	.|B	.|0.37989	.|0.262	T|T	0.56450|0.56450	-0.7977|-0.7977	5|8	.|.	.|.	.|.	-15.6052|-15.6052	15.0965|15.0965	0.72238|0.72238	0.0:0.1427:0.8573:0.0|0.0:0.1427:0.8573:0.0	.|.	.|681	.|Q9NVR2	.|INT10_HUMAN	T|H	144|681;85	.|.	.|.	A|R	+|+	1|2	0|0	INTS10|INTS10	19753505|19753505	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.397000|9.397000	0.97276|0.97276	1.316000|1.316000	0.45131|0.45131	0.655000|0.655000	0.94253|0.94253	GCC|CGC	INTS10	-	NULL	ENSG00000104613		0.537	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS10	HGNC	protein_coding	OTTHUMT00000253724.2	-	0.00	59	0	G	NM_018142		19709225	+1	tier1	-	no_errors	ENST00000397977	ensembl	human	known	74_37	missense	26.09	51	18	SNP	1.000	A
IPO4	79711	genome.wustl.edu	37	14	24654089	24654089	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:24654089G>A	ENST00000354464.6	-	15	1682	c.1506C>T	c.(1504-1506)agC>agT	p.S502S	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	502					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CTCCCAGGGCGCTCACAGCCA	0.637																																																	0													33.0	37.0	36.0					14																	24654089		2028	4181	6209	SO:0001819	synonymous_variant	0			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.1506C>T	14.37:g.24654089G>A			B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.S502	ENST00000354464.6	37	c.1506	CCDS9616.1	14																																																																																			IPO4	-	superfamily_ARM-type_fold	ENSG00000196497		0.637	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	HGNC	protein_coding	OTTHUMT00000071931.4	-	0.00	62	0	G	NM_024658		24654089	-1	tier1	-	no_errors	ENST00000354464	ensembl	human	known	74_37	silent	45.00	31	27	SNP	1.000	A
IQCF1	132141	genome.wustl.edu	37	3	51929229	51929229	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:51929229G>T	ENST00000310914.5	-	4	357	c.295C>A	c.(295-297)Cag>Aag	p.Q99K		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	99										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CACCAGCACTGAATGATGCAG	0.612																																																	0													46.0	46.0	46.0					3																	51929229		2203	4300	6503	SO:0001583	missense	0			BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.295C>A	3.37:g.51929229G>T	ENSP00000307958:p.Gln99Lys		Q8N711	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.Q99K	ENST00000310914.5	37	c.295	CCDS2836.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.203104	0.95033	.	.	ENSG00000173389	ENST00000310914	D	0.81821	-1.54	4.75	4.75	0.60458	.	0.000000	0.48286	D	0.000185	D	0.88757	0.6523	M	0.78916	2.43	0.30010	N	0.815285	D	0.63880	0.993	D	0.78314	0.991	D	0.85660	0.1288	10	0.66056	D	0.02	-5.8839	13.4271	0.61032	0.0:0.0:1.0:0.0	.	99	Q8N6M8	IQCF1_HUMAN	K	99	ENSP00000307958:Q99K	ENSP00000307958:Q99K	Q	-	1	0	IQCF1	51904269	0.998000	0.40836	0.335000	0.25508	0.823000	0.46562	4.664000	0.61540	2.622000	0.88805	0.549000	0.68633	CAG	IQCF1	-	superfamily_P-loop_NTPase	ENSG00000173389		0.612	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF1	HGNC	protein_coding	OTTHUMT00000346568.1	-	0.00	22	0	G	NM_152397		51929229	-1	tier1	-	no_errors	ENST00000310914	ensembl	human	known	74_37	missense	16.00	21	4	SNP	0.642	T
IQGAP2	10788	genome.wustl.edu	37	5	76003254	76003254	+	3'UTR	DEL	A	A	-	rs463188	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:76003254delA	ENST00000274364.6	+	0	5141				CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000508410.1_3'UTR|IQGAP2_ENST00000379730.3_3'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2						negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGATTTTTTTAAAACGACCAA	0.279																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.*116A>-	5.37:g.76003254delA			A8K4V1|B7Z8A4|J3KR91	RNA	DEL	-	NULL	ENST00000274364.6	37	NULL	CCDS34188.1	5																																																																																			IQGAP2	-	-	ENSG00000145703		0.279	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1		0.00	44	0	A	NM_006633		76003254	+1	tier1		no_errors	ENST00000508410	ensembl	human	putative	74_37	rna	10.20	44	5	DEL	0.000	-
IQSEC2	23096	genome.wustl.edu	37	X	53285056	53285056	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:53285056C>G	ENST00000375368.5	-	2	1095	c.895G>C	c.(895-897)Gag>Cag	p.E299Q	IQSEC2_ENST00000396435.3_Missense_Mutation_p.E309Q|IQSEC2_ENST00000375365.2_Missense_Mutation_p.E104Q			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	299	Poly-Glu.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCCTCCTCCTCCTGCTTCCTC	0.637																																																	0													71.0	58.0	62.0					X																	53285056		2203	4300	6503	SO:0001583	missense	0			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.895G>C	X.37:g.53285056C>G	ENSP00000364517:p.Glu299Gln		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom	p.E309Q	ENST00000375368.5	37	c.925		X	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672002	0.29693	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.79845	-1.31;-1.31;-1.31	4.63	4.63	0.57726	.	0.272597	0.35067	N	0.003479	T	0.72301	0.3443	N	0.11255	0.115	0.45216	D	0.998225	P;P	0.50819	0.939;0.844	P;B	0.51193	0.662;0.349	T	0.71666	-0.4524	10	0.22109	T	0.4	.	15.434	0.75129	0.0:1.0:0.0:0.0	.	309;104	Q5JU85-2;Q5JU85-3	.;.	Q	309;299;104	ENSP00000379712:E309Q;ENSP00000364517:E299Q;ENSP00000364514:E104Q	ENSP00000364514:E104Q	E	-	1	0	IQSEC2	53301781	1.000000	0.71417	1.000000	0.80357	0.131000	0.20780	4.828000	0.62730	1.881000	0.54492	0.461000	0.40582	GAG	IQSEC2	-	NULL	ENSG00000124313		0.637	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	HGNC	protein_coding		-	0.00	32	0	C	XM_291345		53285056	-1	tier1	-	no_errors	ENST00000396435	ensembl	human	known	74_37	missense	80.77	5	21	SNP	1.000	G
IQUB	154865	genome.wustl.edu	37	7	123092969	123092969	+	Missense_Mutation	SNP	C	C	T	rs1525626	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:123092969C>T	ENST00000466202.1	-	13	2780	c.2204G>A	c.(2203-2205)cGc>cAc	p.R735H	IQUB_ENST00000324698.6_Missense_Mutation_p.R735H	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	735			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> P (in dbSNP:rs1525626).		cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.R735H(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AATAAATGAGCGTTCATATCC	0.353																																																	1	Substitution - Missense(1)	large_intestine(1)											65.0	61.0	62.0					7																	123092969		2202	4299	6501	SO:0001583	missense	0			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.2204G>A	7.37:g.123092969C>T	ENSP00000417769:p.Arg735His		A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.R735H	ENST00000466202.1	37	c.2204	CCDS5787.1	7	.	.	.	.	.	.	.	.	.	.	C	3.763	-0.049275	0.07407	.	.	ENSG00000164675	ENST00000466202;ENST00000324698	T;T	0.29917	1.55;1.55	6.05	-0.932	0.10435	.	0.999767	0.08091	N	0.999373	T	0.15522	0.0374	N	0.12182	0.205	0.80722	P	0.0	B	0.10296	0.003	B	0.06405	0.002	T	0.27262	-1.0079	9	0.36615	T	0.2	.	5.688	0.17813	0.0584:0.2876:0.3429:0.3111	.	735	Q8NA54	IQUB_HUMAN	H	735	ENSP00000417769:R735H;ENSP00000324882:R735H	ENSP00000324882:R735H	R	-	2	0	IQUB	122880205	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.378000	0.07446	-0.494000	0.06669	-1.132000	0.01976	CGC	IQUB	-	NULL	ENSG00000164675		0.353	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IQUB	HGNC	protein_coding	OTTHUMT00000348529.1	-	0.00	24	0	C	NM_178827		123092969	-1	tier1	-	no_errors	ENST00000324698	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.000	T
IRF2BP2	359948	genome.wustl.edu	37	1	234743089	234743089	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:234743089G>A	ENST00000366609.3	-	2	1588	c.1558C>T	c.(1558-1560)Cag>Tag	p.Q520*	IRF2BP2_ENST00000366610.3_Nonsense_Mutation_p.Q504*|IRF2BP2_ENST00000491430.1_5'UTR|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	520	Cys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GACGGGCACTGCACAAAATGG	0.617																																																	0													70.0	75.0	73.0					1																	234743089		2203	4300	6503	SO:0001587	stop_gained	0			AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1558C>T	1.37:g.234743089G>A	ENSP00000355568:p.Gln520*		B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Nonsense_Mutation	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.Q520*	ENST00000366609.3	37	c.1558	CCDS1602.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.419629	0.97550	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	.	.	.	5.76	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.7659	16.8437	0.85975	0.0:0.1287:0.8713:0.0	.	.	.	.	X	504;520	.	ENSP00000355568:Q520X	Q	-	1	0	IRF2BP2	232809712	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	1.426000	0.47256	0.650000	0.86243	CAG	IRF2BP2	-	pfam_Interferon_reg_fac2-bd1_2_Znf	ENSG00000168264		0.617	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	IRF2BP2	HGNC	protein_coding	OTTHUMT00000092705.1	-	0.00	65	0	G	NM_182972		234743089	-1	tier1	-	no_errors	ENST00000366609	ensembl	human	novel	74_37	nonsense	5.26	71	4	SNP	1.000	A
IRS1	3667	genome.wustl.edu	37	2	227663183	227663183	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:227663183T>C	ENST00000305123.5	-	1	1292	c.272A>G	c.(271-273)gAg>gGg	p.E91G	RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	91	Mediates interaction with PHIP. {ECO:0000250}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGCAAAGTGCTCGTCCCGGGT	0.617																																																	0													78.0	94.0	89.0					2																	227663183		2203	4300	6503	SO:0001583	missense	0				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.272A>G	2.37:g.227663183T>C	ENSP00000304895:p.Glu91Gly			Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.E91G	ENST00000305123.5	37	c.272	CCDS2463.1	2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.204262	0.79127	.	.	ENSG00000169047	ENST00000305123	T	0.71934	-0.61	5.49	5.49	0.81192	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000010	T	0.81465	0.4828	L	0.56769	1.78	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.81735	-0.0797	10	0.48119	T	0.1	-20.5559	15.5462	0.76101	0.0:0.0:0.0:1.0	.	91	P35568	IRS1_HUMAN	G	91	ENSP00000304895:E91G	ENSP00000304895:E91G	E	-	2	0	IRS1	227371427	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.992000	0.88273	2.208000	0.71279	0.459000	0.35465	GAG	IRS1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000169047		0.617	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3	-	0.00	79	0	T	NM_005544		227663183	-1	tier1	-	no_errors	ENST00000305123	ensembl	human	known	74_37	missense	50.62	40	41	SNP	1.000	C
IRS1	3667	genome.wustl.edu	37	2	227663189	227663189	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:227663189C>T	ENST00000305123.5	-	1	1286	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	89	Mediates interaction with PHIP. {ECO:0000250}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGCTCGTCCCGGGTGTAGAG	0.612																																																	0													80.0	97.0	91.0					2																	227663189		2203	4300	6503	SO:0001583	missense	0				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.266G>A	2.37:g.227663189C>T	ENSP00000304895:p.Arg89Gln			Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.R89Q	ENST00000305123.5	37	c.266	CCDS2463.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311020	0.81358	.	.	ENSG00000169047	ENST00000305123	T	0.72167	-0.63	5.49	5.49	0.81192	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.110656	0.36778	N	0.002410	T	0.63920	0.2552	L	0.31926	0.97	0.49213	D	0.999763	D	0.59357	0.985	P	0.48873	0.593	T	0.66424	-0.5927	10	0.62326	D	0.03	-13.8664	7.8555	0.29480	0.0:0.8026:0.0:0.1974	.	89	P35568	IRS1_HUMAN	Q	89	ENSP00000304895:R89Q	ENSP00000304895:R89Q	R	-	2	0	IRS1	227371433	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.943000	0.63554	2.735000	0.93741	0.561000	0.74099	CGG	IRS1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000169047		0.612	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3	-	0.00	89	0	C	NM_005544		227663189	-1	tier1	-	no_errors	ENST00000305123	ensembl	human	known	74_37	missense	33.33	56	28	SNP	1.000	T
IRS2	8660	genome.wustl.edu	37	13	110435020	110435020	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:110435020C>T	ENST00000375856.3	-	1	3895	c.3381G>A	c.(3379-3381)ccG>ccA	p.P1127P		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1127					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGTGGGGGTCCGGGGGCTGGC	0.731																																					Melanoma(100;613 2409 40847)												0													3.0	4.0	4.0					13																	110435020		1686	3623	5309	SO:0001819	synonymous_variant	0			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3381G>A	13.37:g.110435020C>T			Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.P1127	ENST00000375856.3	37	c.3381	CCDS9510.1	13																																																																																			IRS2	-	NULL	ENSG00000185950		0.731	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS2	HGNC	protein_coding	OTTHUMT00000045755.1	-	0.00	28	0	C	NM_003749		110435020	-1	tier1	-	no_errors	ENST00000375856	ensembl	human	known	74_37	silent	27.50	29	11	SNP	0.228	T
IRS2	8660	genome.wustl.edu	37	13	110436713	110436713	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:110436713G>A	ENST00000375856.3	-	1	2202	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	563					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GTCCTGGGCCGCGTCCCCCGA	0.726																																					Melanoma(100;613 2409 40847)												0													12.0	16.0	14.0					13																	110436713		2151	4242	6393	SO:0001583	missense	0			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.1688C>T	13.37:g.110436713G>A	ENSP00000365016:p.Ala563Val		Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.A563V	ENST00000375856.3	37	c.1688	CCDS9510.1	13	.	.	.	.	.	.	.	.	.	.	G	1.413	-0.574981	0.03882	.	.	ENSG00000185950	ENST00000375856	T	0.17213	2.29	3.9	3.05	0.35203	.	0.394625	0.24930	U	0.034470	T	0.07052	0.0179	N	0.14661	0.345	0.09310	N	1	P	0.44734	0.842	B	0.31614	0.133	T	0.26052	-1.0114	10	0.39692	T	0.17	-6.7829	7.4469	0.27217	0.1624:0.4429:0.3946:0.0	.	563	Q9Y4H2	IRS2_HUMAN	V	563	ENSP00000365016:A563V	ENSP00000365016:A563V	A	-	2	0	IRS2	109234714	0.000000	0.05858	0.357000	0.25798	0.075000	0.17131	-0.336000	0.07863	0.839000	0.34971	-0.333000	0.08304	GCG	IRS2	-	NULL	ENSG00000185950		0.726	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS2	HGNC	protein_coding	OTTHUMT00000045755.1	-	0.00	24	0	G	NM_003749		110436713	-1	tier1	-	no_errors	ENST00000375856	ensembl	human	known	74_37	missense	36.36	14	8	SNP	0.157	A
IRX1	79192	genome.wustl.edu	37	5	3599698	3599698	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:3599698C>T	ENST00000302006.3	+	2	688	c.636C>T	c.(634-636)ggC>ggT	p.G212G	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	212					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACCGAGGGCGACCCGGAGA	0.627																																																	0													66.0	60.0	62.0					5																	3599698		2203	4300	6503	SO:0001819	synonymous_variant	0			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.636C>T	5.37:g.3599698C>T			Q7Z2F8|Q8N312	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.G212	ENST00000302006.3	37	c.636	CCDS34132.1	5																																																																																			IRX1	-	NULL	ENSG00000170549		0.627	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1	-	0.00	56	0	C	NM_024337		3599698	+1	tier1	-	no_errors	ENST00000302006	ensembl	human	known	74_37	silent	20.27	59	15	SNP	0.995	T
IRX1	79192	genome.wustl.edu	37	5	3599713	3599713	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:3599713C>T	ENST00000302006.3	+	2	703	c.651C>T	c.(649-651)gcC>gcT	p.A217A	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	217					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGGAGAAGGCCGAGGACGACG	0.612																																																	0													66.0	60.0	62.0					5																	3599713		2203	4300	6503	SO:0001819	synonymous_variant	0			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.651C>T	5.37:g.3599713C>T			Q7Z2F8|Q8N312	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.A217	ENST00000302006.3	37	c.651	CCDS34132.1	5																																																																																			IRX1	-	NULL	ENSG00000170549		0.612	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1	-	0.00	53	0	C	NM_024337		3599713	+1	tier1	-	no_errors	ENST00000302006	ensembl	human	known	74_37	silent	26.87	49	18	SNP	0.995	T
IRX1	79192	genome.wustl.edu	37	5	3600309	3600309	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:3600309T>A	ENST00000302006.3	+	2	1299	c.1247T>A	c.(1246-1248)gTc>gAc	p.V416D	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	416					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAGCCGCCGGTCGCTATTGCC	0.706																																																	0													18.0	22.0	21.0					5																	3600309		2196	4293	6489	SO:0001583	missense	0			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1247T>A	5.37:g.3600309T>A	ENSP00000305244:p.Val416Asp		Q7Z2F8|Q8N312	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.V416D	ENST00000302006.3	37	c.1247	CCDS34132.1	5	.	.	.	.	.	.	.	.	.	.	T	0.093	-1.164170	0.01673	.	.	ENSG00000170549	ENST00000302006	T	0.60299	0.2	3.16	3.16	0.36331	.	0.902815	0.09421	N	0.804482	T	0.29684	0.0741	N	0.03608	-0.345	0.20307	N	0.999911	B	0.33073	0.396	B	0.23574	0.047	T	0.07966	-1.0745	10	0.30854	T	0.27	.	8.3604	0.32355	0.0:0.0:0.0:1.0	.	416	P78414	IRX1_HUMAN	D	416	ENSP00000305244:V416D	ENSP00000305244:V416D	V	+	2	0	IRX1	3653309	0.983000	0.35010	0.005000	0.12908	0.027000	0.11550	2.291000	0.43540	1.367000	0.46095	0.260000	0.18958	GTC	IRX1	-	NULL	ENSG00000170549		0.706	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1	-	0.00	20	0	T	NM_024337		3600309	+1	tier1	-	no_errors	ENST00000302006	ensembl	human	known	74_37	missense	68.75	10	22	SNP	0.003	A
ISL2	64843	genome.wustl.edu	37	15	76633630	76633630	+	Silent	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:76633630C>A	ENST00000290759.4	+	5	1111	c.951C>A	c.(949-951)gcC>gcA	p.A317A	RP11-685G9.4_ENST00000602530.1_lincRNA|RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	317					negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						ACCAACCCGCCTTCCAACAGC	0.677																																					GBM(97;953 1391 16164 31496 36951)												0													22.0	22.0	22.0					15																	76633630		2197	4293	6490	SO:0001819	synonymous_variant	0			AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"""Homeoboxes / LIM class"""	18524	protein-coding gene	gene with protein product		609481	"""ISL2 transcription factor, LIM/homeodomain, (islet-2)"""				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.951C>A	15.37:g.76633630C>A			B3KM37	Silent	SNP	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.A317	ENST00000290759.4	37	c.951	CCDS10290.1	15																																																																																			ISL2	-	NULL	ENSG00000159556		0.677	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISL2	HGNC	protein_coding	OTTHUMT00000289779.1	-	0.00	32	0	C			76633630	+1	tier1	-	no_errors	ENST00000290759	ensembl	human	known	74_37	silent	47.83	12	11	SNP	0.999	A
ISM1	140862	genome.wustl.edu	37	20	13269234	13269234	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:13269234G>A	ENST00000262487.4	+	4	697	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	231	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TGTCTGCAGCGTCACCTGCGG	0.577																																																	0													75.0	79.0	78.0					20																	13269234		2056	4206	6262	SO:0001583	missense	0			AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.691G>A	20.37:g.13269234G>A	ENSP00000262487:p.Val231Ile		Q8WVH9	Missense_Mutation	SNP	pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt	p.V231I	ENST00000262487.4	37	c.691	CCDS46579.1	20	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352570	0.61293	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.64618	-0.11;-0.11	5.85	5.85	0.93711	.	0.052555	0.85682	D	0.000000	T	0.66944	0.2841	M	0.86864	2.845	0.80722	D	1	B	0.22800	0.075	B	0.16722	0.016	T	0.64317	-0.6436	10	0.35671	T	0.21	-13.8298	14.3295	0.66545	0.0708:0.0:0.9292:0.0	.	231	B1AKI9	ISM1_HUMAN	I	231;185	ENSP00000262487:V231I;ENSP00000409938:V185I	ENSP00000262487:V231I	V	+	1	0	ISM1	13217234	1.000000	0.71417	0.963000	0.40424	0.757000	0.42996	6.747000	0.74872	2.769000	0.95229	0.650000	0.86243	GTC	ISM1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000101230		0.577	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISM1	HGNC	protein_coding	OTTHUMT00000078039.2	-	0.00	65	0	G			13269234	+1	tier1	-	no_errors	ENST00000262487	ensembl	human	known	74_37	missense	34.88	28	15	SNP	1.000	A
ISM1	140862	genome.wustl.edu	37	20	13279856	13279856	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:13279856C>T	ENST00000262487.4	+	6	1151	c.1145C>T	c.(1144-1146)gCa>gTa	p.A382V	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	382	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						ACGCTGGCGGCACAGCACTGC	0.652																																																	0													21.0	25.0	23.0					20																	13279856		2170	4271	6441	SO:0001583	missense	0			AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1145C>T	20.37:g.13279856C>T	ENSP00000262487:p.Ala382Val		Q8WVH9	Missense_Mutation	SNP	pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt	p.A382V	ENST00000262487.4	37	c.1145	CCDS46579.1	20	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621715	0.87460	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.54479	0.57;0.6	5.88	5.88	0.94601	AMOP (3);	0.000000	0.85682	D	0.000000	T	0.68485	0.3006	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68191	-0.5474	10	0.66056	D	0.02	-24.9016	20.2133	0.98290	0.0:1.0:0.0:0.0	.	382	B1AKI9	ISM1_HUMAN	V	382;336	ENSP00000262487:A382V;ENSP00000409938:A336V	ENSP00000262487:A382V	A	+	2	0	ISM1	13227856	1.000000	0.71417	0.998000	0.56505	0.608000	0.37181	7.782000	0.85680	2.786000	0.95864	0.655000	0.94253	GCA	ISM1	-	pfam_AMOP,smart_AMOP,pfscan_AMOP	ENSG00000101230		0.652	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISM1	HGNC	protein_coding	OTTHUMT00000078039.2	-	0.00	21	0	C			13279856	+1	tier1	-	no_errors	ENST00000262487	ensembl	human	known	74_37	missense	40.00	15	10	SNP	1.000	T
ITGA10	8515	genome.wustl.edu	37	1	145532467	145532467	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:145532467A>G	ENST00000369304.3	+	9	1095	c.920A>G	c.(919-921)cAc>cGc	p.H307R	ITGA10_ENST00000538811.1_Missense_Mutation_p.H176R|ITGA10_ENST00000481236.1_3'UTR|ITGA10_ENST00000539363.1_Missense_Mutation_p.H164R	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	307	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTCCTTGGTCACTACCTCCGG	0.468																																																	0													116.0	111.0	113.0					1																	145532467		2203	4300	6503	SO:0001583	missense	0			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.920A>G	1.37:g.145532467A>G	ENSP00000358310:p.His307Arg		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.H307R	ENST00000369304.3	37	c.920	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.463215	0.63513	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.54866	0.55;0.55;0.55	5.12	3.91	0.45181	von Willebrand factor, type A (3);	0.130080	0.51477	D	0.000087	T	0.41073	0.1143	N	0.13140	0.3	0.50467	D	0.999871	D;D;D;D	0.71674	0.988;0.988;0.998;0.99	P;P;D;D	0.81914	0.877;0.877;0.995;0.925	T	0.40459	-0.9562	10	0.38643	T	0.18	.	10.0693	0.42324	0.8314:0.1686:0.0:0.0	.	273;176;164;307	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	R	307;273;164;176	ENSP00000358310:H307R;ENSP00000439894:H164R;ENSP00000440011:H176R	ENSP00000358310:H307R	H	+	2	0	ITGA10	144243824	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.745000	0.74860	2.080000	0.62538	0.459000	0.35465	CAC	ITGA10	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000143127		0.468	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	-	0.00	29	0	A	NM_003637		145532467	+1	tier1	-	no_errors	ENST00000369304	ensembl	human	known	74_37	missense	66.67	10	20	SNP	1.000	G
ITGA2	3673	genome.wustl.edu	37	5	52351981	52351982	+	Splice_Site	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:52351981_52351982insA	ENST00000296585.5	+	9	1239		c.e9+2			NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GCATTGAAGGTAAAAAAAATAA	0.292																																																	0																																										SO:0001630	splice_region_variant	0				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1096+2->A	5.37:g.52351989_52351989dupA			Q14595	Splice_Site	INS	-	e9+2	ENST00000296585.5	37	c.1096+2_1096+1	CCDS3957.1	5																																																																																			ITGA2	-	-	ENSG00000164171		0.292	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2		0.00	21	0	-	NM_002203	Intron	52351982	+1	tier1		no_errors	ENST00000296585	ensembl	human	known	74_37	splice_site_ins	34.48	19	10	INS	1.000:1.000	A
ITGA2	3673	genome.wustl.edu	37	5	52369001	52369001	+	Missense_Mutation	SNP	C	C	T	rs79932422	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:52369001C>T	ENST00000296585.5	+	20	2626	c.2483C>T	c.(2482-2484)aCg>aTg	p.T828M		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	828					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TTTTCAGTAACGCTGAAAAAT	0.353																																																	0			GRCh37	CP995097	ITGA2	M	rs79932422	C	MET/THR	2,4404	4.2+/-10.8	0,2,2201	118.0	113.0	114.0		2483	-0.4	0.5	5	dbSNP_131	114	13,8587	9.8+/-36.6	0,13,4287	yes	missense	ITGA2	NM_002203.3	81	0,15,6488	TT,TC,CC		0.1512,0.0454,0.1153	benign	828/1182	52369001	15,12991	2203	4300	6503	SO:0001583	missense	0				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.2483C>T	5.37:g.52369001C>T	ENSP00000296585:p.Thr828Met		Q14595	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.T828M	ENST00000296585.5	37	c.2483	CCDS3957.1	5	.	.	.	.	.	.	.	.	.	.	C	9.410	1.080213	0.20309	4.54E-4	0.001512	ENSG00000164171	ENST00000296585	T	0.54479	0.57	5.87	-0.451	0.12214	Integrin alpha-2 (1);	0.669254	0.15498	N	0.259149	T	0.34919	0.0914	L	0.46157	1.445	0.09310	N	0.999998	P;P	0.44946	0.846;0.636	B;B	0.32624	0.149;0.117	T	0.19910	-1.0291	10	0.49607	T	0.09	.	7.1852	0.25795	0.4073:0.4129:0.0:0.1798	.	828;828	E7ESP4;P17301	.;ITA2_HUMAN	M	828	ENSP00000296585:T828M	ENSP00000296585:T828M	T	+	2	0	ITGA2	52404758	0.002000	0.14202	0.505000	0.27651	0.484000	0.33280	0.199000	0.17237	-0.065000	0.13021	0.655000	0.94253	ACG	ITGA2	-	pfam_Integrin_alpha-2	ENSG00000164171		0.353	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2	HGNC	protein_coding	OTTHUMT00000253857.2	-	0.00	46	0	C	NM_002203		52369001	+1	tier1	rs79932422	no_errors	ENST00000296585	ensembl	human	known	74_37	missense	48.89	23	22	SNP	0.159	T
ITGA4	3676	genome.wustl.edu	37	2	182347339	182347339	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:182347339A>T	ENST00000397033.2	+	9	1432	c.1002A>T	c.(1000-1002)agA>agT	p.R334S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	334					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GCACCATCAGAGAGGAAGGAA	0.483																																																	0													150.0	149.0	149.0					2																	182347339		1991	4166	6157	SO:0001583	missense	0				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1002A>T	2.37:g.182347339A>T	ENSP00000380227:p.Arg334Ser		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R334S	ENST00000397033.2	37	c.1002	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.061057	0.76074	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.10382	2.88;2.88	5.81	-0.749	0.11084	.	0.000000	0.85682	D	0.000000	T	0.20170	0.0485	L	0.41906	1.305	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.00159	-1.1974	10	0.72032	D	0.01	.	11.3852	0.49780	0.7435:0.0:0.2565:0.0	.	334;334	E7EP60;P13612	.;ITA4_HUMAN	S	334	ENSP00000380227:R334S;ENSP00000233573:R334S	ENSP00000233573:R334S	R	+	3	2	ITGA4	182055584	0.981000	0.34729	0.993000	0.49108	0.961000	0.63080	0.226000	0.17776	-0.218000	0.10018	-0.924000	0.02725	AGA	ITGA4	-	pfam_FG-GAP,smart_Int_alpha_beta-p	ENSG00000115232		0.483	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	-	0.00	116	0	A			182347339	+1	tier1	-	no_errors	ENST00000397033	ensembl	human	known	74_37	missense	35.92	66	37	SNP	0.981	T
ITGA8	8516	genome.wustl.edu	37	10	15573078	15573078	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:15573078G>T	ENST00000378076.3	-	28	3306	c.2953C>A	c.(2953-2955)Cca>Aca	p.P985T		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	985					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGTTTTGCTGGCTGATCTGTA	0.313																																																	0													100.0	100.0	100.0					10																	15573078		2203	4300	6503	SO:0001583	missense	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2953C>A	10.37:g.15573078G>T	ENSP00000367316:p.Pro985Thr		B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.P985T	ENST00000378076.3	37	c.2953	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387810	0.82902	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.50277	0.75	5.64	5.64	0.86602	.	0.047545	0.85682	D	0.000000	T	0.68229	0.2978	M	0.76328	2.33	0.51482	D	0.999926	D;D	0.71674	0.998;0.996	D;P	0.66084	0.941;0.874	T	0.64875	-0.6304	10	0.33141	T	0.24	.	19.2914	0.94102	0.0:0.0:1.0:0.0	.	970;985	F5H818;P53708	.;ITA8_HUMAN	T	985;970	ENSP00000367316:P985T	ENSP00000367316:P985T	P	-	1	0	ITGA8	15613084	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.038000	0.70964	2.651000	0.90000	0.643000	0.83706	CCA	ITGA8	-	NULL	ENSG00000077943		0.313	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	-	0.00	39	0	G	NM_003638		15573078	-1	tier1	-	no_errors	ENST00000378076	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
ITGAD	3681	genome.wustl.edu	37	16	31425890	31425890	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:31425890delG	ENST00000389202.2	+	17	2164	c.2115delG	c.(2113-2115)ctgfs	p.L705fs		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	705					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCCTGGGACTGGGGATTCACT	0.547																																																	0													187.0	211.0	203.0					16																	31425890		2197	4300	6497	SO:0001589	frameshift_variant	0			U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2115delG	16.37:g.31425890delG	ENSP00000373854:p.Leu705fs		Q15575|Q15576	Frame_Shift_Del	DEL	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.I707fs	ENST00000389202.2	37	c.2115	CCDS32438.1	16																																																																																			ITGAD	-	pfam_Integrin_alpha-2	ENSG00000156886		0.547	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAD	HGNC	protein_coding	OTTHUMT00000432836.1		0.00	71	0	G	NM_005353		31425890	+1	tier1		no_errors	ENST00000389202	ensembl	human	known	74_37	frame_shift_del	31.15	42	19	DEL	0.803	-
ITGB4	3691	genome.wustl.edu	37	17	73732134	73732134	+	Nonsense_Mutation	SNP	C	C	T	rs121912462		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:73732134C>T	ENST00000200181.3	+	14	1847	c.1660C>T	c.(1660-1662)Cga>Tga	p.R554*	ITGB4_ENST00000339591.3_Nonsense_Mutation_p.R554*|ITGB4_ENST00000579662.1_Nonsense_Mutation_p.R554*|ITGB4_ENST00000449880.2_Nonsense_Mutation_p.R554*|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Nonsense_Mutation_p.R554*	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	554	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCTGCAGACCGAGGACGCTG	0.612																																																	0			GRCh37	CM981090	ITGB4	M	rs121912462						199.0	163.0	175.0					17																	73732134		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1660C>T	17.37:g.73732134C>T	ENSP00000200181:p.Arg554*		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Nonsense_Mutation	SNP	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3	p.R554*	ENST00000200181.3	37	c.1660	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	C	41	8.661237	0.98905	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	.	.	.	4.95	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5303	0.56111	0.2997:0.7003:0.0:0.0	.	.	.	.	X	470;554;554;554	.	ENSP00000200181:R554X	R	+	1	2	ITGB4	71243729	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.329000	0.59260	2.285000	0.76669	0.558000	0.71614	CGA	ITGB4	-	pirsf_Integrin_bsu-4,pfam_EGF_extracell	ENSG00000132470		0.612	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	-	0.00	39	0	C			73732134	+1	tier1	rs121912462	no_errors	ENST00000200181	ensembl	human	known	74_37	nonsense	44.00	14	11	SNP	1.000	T
ITPKA	3706	genome.wustl.edu	37	15	41794044	41794044	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:41794044C>T	ENST00000260386.5	+	3	851	c.798C>T	c.(796-798)ggC>ggT	p.G266G		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	266					actin cytoskeleton organization (GO:0030036)|dendritic spine maintenance (GO:0097062)|inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|positive regulation of dendritic spine morphogenesis (GO:0061003)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendritic spine (GO:0043197)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCAAAATGGGCGTCAGGTATG	0.667																																																	0													43.0	41.0	42.0					15																	41794044		2203	4300	6503	SO:0001819	synonymous_variant	0			X54938	CCDS10076.1	15q15.1	2011-04-28	2011-04-28		ENSG00000137825	ENSG00000137825	2.7.1.127		6178	protein-coding gene	gene with protein product		147521	"""inositol 1,4,5-trisphosphate 3-kinase A"""			1330886, 2175886	Standard	NM_002220		Approved	IP3KA, IP3-3KA	uc001znz.3	P23677	OTTHUMG00000130343	ENST00000260386.5:c.798C>T	15.37:g.41794044C>T			Q8TAN3	Silent	SNP	pfam_IPK	p.G266	ENST00000260386.5	37	c.798	CCDS10076.1	15																																																																																			ITPKA	-	pfam_IPK	ENSG00000137825		0.667	ITPKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKA	HGNC	protein_coding	OTTHUMT00000252695.3	-	0.00	54	0	C	NM_002220		41794044	+1	tier1	-	no_errors	ENST00000260386	ensembl	human	known	74_37	silent	49.06	27	26	SNP	0.973	T
ITPKB	3707	genome.wustl.edu	37	1	226924171	226924171	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:226924171G>T	ENST00000272117.3	-	1	988	c.989C>A	c.(988-990)gCc>gAc	p.A330D	ITPKB_ENST00000366784.1_Missense_Mutation_p.A330D|ITPKB_ENST00000429204.1_Missense_Mutation_p.A330D			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	330					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AAGCTCACGGGCTCTCCCAGA	0.647																																					Colon(84;110 1851 5306 33547)												0													40.0	48.0	45.0					1																	226924171		2203	4300	6503	SO:0001583	missense	0			AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.989C>A	1.37:g.226924171G>T	ENSP00000272117:p.Ala330Asp		Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Missense_Mutation	SNP	pfam_IPK	p.A330D	ENST00000272117.3	37	c.989	CCDS1555.1	1	.	.	.	.	.	.	.	.	.	.	G	8.202	0.798459	0.16397	.	.	ENSG00000143772	ENST00000272117;ENST00000429204;ENST00000366784	T;T;T	0.25414	1.82;1.82;1.8	4.01	-3.01	0.05463	.	2.418180	0.01498	N	0.017384	T	0.13200	0.0320	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.11155	-1.0599	10	0.12766	T	0.61	.	2.6823	0.05098	0.1793:0.371:0.3212:0.1286	.	330	P27987	IP3KB_HUMAN	D	330	ENSP00000272117:A330D;ENSP00000411152:A330D;ENSP00000355748:A330D	ENSP00000272117:A330D	A	-	2	0	ITPKB	224990794	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.049000	0.11924	-0.225000	0.09913	0.561000	0.74099	GCC	ITPKB	-	NULL	ENSG00000143772		0.647	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	HGNC	protein_coding	OTTHUMT00000091632.1	-	0.00	70	0	G	NM_002221		226924171	-1	tier1	-	no_errors	ENST00000272117	ensembl	human	known	74_37	missense	5.49	86	5	SNP	0.000	T
ITPR2	3709	genome.wustl.edu	37	12	26629856	26629856	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:26629856G>T	ENST00000381340.3	-	44	6624	c.6208C>A	c.(6208-6210)Ccc>Acc	p.P2070T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2070					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGTTCTCTGGGTCTCATGTTA	0.348																																																	0													114.0	101.0	105.0					12																	26629856		1813	4074	5887	SO:0001583	missense	0			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6208C>A	12.37:g.26629856G>T	ENSP00000370744:p.Pro2070Thr		O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.P2070T	ENST00000381340.3	37	c.6208	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565589	0.86439	.	.	ENSG00000123104	ENST00000381340	D	0.92647	-3.08	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.95837	0.8645	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95205	0.8320	10	0.45353	T	0.12	.	18.7412	0.91774	0.0:0.0:1.0:0.0	.	2070	Q14571	ITPR2_HUMAN	T	2070	ENSP00000370744:P2070T	ENSP00000370744:P2070T	P	-	1	0	ITPR2	26521123	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.584000	0.98220	2.650000	0.89964	0.585000	0.79938	CCC	ITPR2	-	NULL	ENSG00000123104		0.348	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	-	0.00	38	0	G	NM_002223		26629856	-1	tier1	-	no_errors	ENST00000381340	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
ITPRIP	85450	genome.wustl.edu	37	10	106074319	106074319	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:106074319G>A	ENST00000337478.1	-	2	1662	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Silent_p.A497A|ITPRIP_ENST00000358187.2_Silent_p.A497A	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	497						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGAGGGGCTCGGCCCTGAGCA	0.592																																																	0													67.0	68.0	67.0					10																	106074319		2203	4300	6503	SO:0001819	synonymous_variant	0			AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1491C>T	10.37:g.106074319G>A			D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	NULL	p.A497	ENST00000337478.1	37	c.1491	CCDS7557.1	10																																																																																			ITPRIP	-	NULL	ENSG00000148841		0.592	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPRIP	HGNC	protein_coding	OTTHUMT00000050204.1	-	0.00	31	0	G	NM_033397		106074319	-1	tier1	-	no_errors	ENST00000278071	ensembl	human	known	74_37	silent	34.29	23	12	SNP	0.922	A
ITSN1	6453	genome.wustl.edu	37	21	35209308	35209309	+	Intron	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:35209308_35209309insC	ENST00000381318.3	+	29	3949				ITSN1_ENST00000399353.1_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000399367.3_Intron|ITSN1_ENST00000399326.3_Intron|ITSN1_ENST00000381291.4_3'UTR|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399352.1_3'UTR|ITSN1_ENST00000381285.4_Intron|ITSN1_ENST00000399349.1_3'UTR|ITSN1_ENST00000399355.2_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)						apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ATGTTGTCCATCCCCCCCTCAG	0.436																																																	0									,	1,4263		0,1,2131					,	2.9	1.0			177	2,8252		0,2,4125	no	intron,utr-3	ITSN1	NM_003024.2,NM_001001132.1	,	0,3,6256	A1A1,A1R,RR		0.0242,0.0235,0.024	,	,		3,12515				SO:0001627	intron_variant	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3661+372->C	21.37:g.35209315_35209315dupC			A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	RNA	INS	-	NULL	ENST00000381318.3	37	NULL	CCDS33545.1	21																																																																																			ITSN1	-	-	ENSG00000205726		0.436	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4		0.00	36	0	-	NM_003024		35209309	+1	tier1		no_errors	ENST00000472548	ensembl	human	known	74_37	rna	47.73	23	21	INS	1.000:1.000	C
IVD	3712	genome.wustl.edu	37	15	40705232	40705232	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:40705232G>T	ENST00000249760.2	+	7	1073	c.730G>T	c.(730-732)Ggg>Tgg	p.G244W	IVD_ENST00000487418.2_Missense_Mutation_p.G247W|IVD_ENST00000479013.2_Missense_Mutation_p.G217W	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	244					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	GGACAAGCTGGGGATGAGGGG	0.537																																					GBM(31;293 617 7486 32527 34655)												0													98.0	93.0	95.0					15																	40705232		2203	4300	6503	SO:0001583	missense	0			AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"""isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase"""			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.730G>T	15.37:g.40705232G>T	ENSP00000249760:p.Gly244Trp		B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Missense_Mutation	SNP	pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C	p.G247W	ENST00000249760.2	37	c.739		15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.968164|4.968164	0.92855|0.92855	.|.	.|.	ENSG00000128928|ENSG00000128928	ENST00000249760;ENST00000479013;ENST00000487418;ENST00000497252|ENST00000473112	D;D;D|.	0.99282|.	-5.68;-5.68;-5.68|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.92485|0.92485	0.7614|0.7614	H|H	0.99800|0.99800	4.79|4.79	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.95756|0.95756	0.8796|0.8796	10|5	0.87932|.	D|.	0|.	.|.	19.7344|19.7344	0.96195|0.96195	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	244;217|.	P26440;B3KVI7|.	IVD_HUMAN;.|.	W|C	244;217;247;14|163	ENSP00000249760:G244W;ENSP00000417990:G217W;ENSP00000418397:G247W|.	ENSP00000249760:G244W|.	G|W	+|+	1|3	0|0	IVD|IVD	38492524|38492524	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.420000|9.420000	0.97426|0.97426	2.673000|2.673000	0.90976|0.90976	0.591000|0.591000	0.81541|0.81541	GGG|TGG	IVD	-	superfamily_AcylCoA_DH/oxidase_NM_dom	ENSG00000128928		0.537	IVD-201	KNOWN	basic|appris_candidate	protein_coding	IVD	HGNC	protein_coding		-	0.00	44	0	G			40705232	+1	tier1	-	no_errors	ENST00000487418	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
IVL	3713	genome.wustl.edu	37	1	152883089	152883089	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152883089G>T	ENST00000368764.3	+	2	880	c.816G>T	c.(814-816)caG>caT	p.Q272H	IVL_ENST00000392667.2_Missense_Mutation_p.Q126H			P07476	INVO_HUMAN	involucrin	272	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			aggaggggcagcTGGAGGTCC	0.642																																																	0													14.0	14.0	14.0					1																	152883089		2045	4002	6047	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.816G>T	1.37:g.152883089G>T	ENSP00000357753:p.Gln272His		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.Q272H	ENST00000368764.3	37	c.816	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.494047	0.26774	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.10288	2.98;2.89	3.62	2.66	0.31614	.	.	.	.	.	T	0.10423	0.0255	L	0.44542	1.39	0.09310	N	1	D	0.61080	0.989	D	0.63488	0.915	T	0.12477	-1.0546	9	0.45353	T	0.12	.	10.7486	0.46196	0.0:0.1962:0.8038:0.0	.	272	P07476	INVO_HUMAN	H	272;126	ENSP00000357753:Q272H;ENSP00000376435:Q126H	ENSP00000357753:Q272H	Q	+	3	2	IVL	151149713	0.107000	0.21998	0.004000	0.12327	0.050000	0.14768	1.026000	0.30103	0.592000	0.29728	0.194000	0.17425	CAG	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.642	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	-	0.00	98	0	G	NM_005547		152883089	+1	tier1	-	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	21.71	101	28	SNP	0.120	T
JKAMP	51528	genome.wustl.edu	37	14	59961902	59961902	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:59961902G>A	ENST00000261247.9	+	4	565	c.418G>A	c.(418-420)Gtt>Att	p.V140I	JKAMP_ENST00000356057.5_Missense_Mutation_p.V148I|JKAMP_ENST00000556985.1_Missense_Mutation_p.V140I|JKAMP_ENST00000425728.2_Missense_Mutation_p.V134I|JKAMP_ENST00000554271.1_Missense_Mutation_p.V154I|RP11-701B16.2_ENST00000554253.1_RNA	NM_001098625.1|NM_001284203.1|NM_016475.3	NP_001092095.1|NP_001271132.1|NP_057559.2	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	155					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TCCAGATTACGTTACCACAGT	0.373																																																	0													185.0	166.0	172.0					14																	59961902		1918	4131	6049	SO:0001583	missense	0			AF212245	CCDS45116.1, CCDS45117.1, CCDS61462.1, CCDS61463.1	14q22.3	2014-02-14	2009-08-13	2009-08-13	ENSG00000050130	ENSG00000050130			20184	protein-coding gene	gene with protein product	"""Jun N-terminal kinase 1-associated membrane protein"""	611176	"""chromosome 14 open reading frame 100"""	C14orf100		16166642, 19269966	Standard	NM_001284202		Approved	HSPC213, JAMP, HSPC327, CDA06	uc001xef.4	Q9P055	OTTHUMG00000171054	ENST00000261247.9:c.418G>A	14.37:g.59961902G>A	ENSP00000261247:p.Val140Ile		B4DP67|Q6FIB6|Q6IAJ2|Q7Z5D4|Q86SY6|Q9H0Q6|Q9H2W0|Q9HAH5|Q9P0R3	Missense_Mutation	SNP	pfam_DUF766	p.V148I	ENST00000261247.9	37	c.442	CCDS45116.1	14	.	.	.	.	.	.	.	.	.	.	G	8.755	0.922296	0.17982	.	.	ENSG00000050130	ENST00000261247;ENST00000425728;ENST00000556985;ENST00000554271;ENST00000554795;ENST00000356057	.	.	.	5.4	-2.02	0.07388	.	0.450752	0.25211	N	0.032316	T	0.18087	0.0434	N	0.04880	-0.145	0.22745	N	0.998789	B;B;B;B;B	0.11235	0.004;0.001;0.001;0.003;0.001	B;B;B;B;B	0.08055	0.003;0.002;0.001;0.002;0.001	T	0.23226	-1.0194	9	0.15066	T	0.55	-28.3493	12.8632	0.57926	0.5312:0.0:0.4688:0.0	.	155;154;134;148;140	Q9P055;G3V2M4;Q9P055-3;Q9P055-5;Q9P055-4	JKAMP_HUMAN;.;.;.;.	I	140;134;140;154;148;148	.	ENSP00000261247:V140I	V	+	1	0	JKAMP	59031655	0.006000	0.16342	0.000000	0.03702	0.440000	0.31957	0.063000	0.14410	-0.354000	0.08212	0.655000	0.94253	GTT	JKAMP	-	pfam_DUF766	ENSG00000050130		0.373	JKAMP-001	NOVEL	basic|appris_principal|CCDS	protein_coding	JKAMP	HGNC	protein_coding	OTTHUMT00000411430.1	-	0.00	107	0	G	NM_001098625		59961902	+1	tier1	-	no_errors	ENST00000356057	ensembl	human	known	74_37	missense	29.06	83	34	SNP	0.002	A
JMJD1C	221037	genome.wustl.edu	37	10	64974152	64974152	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:64974152T>C	ENST00000399262.2	-	8	1993	c.1775A>G	c.(1774-1776)gAa>gGa	p.E592G	JMJD1C_ENST00000402544.1_Missense_Mutation_p.E373G|JMJD1C_ENST00000489372.2_5'Flank|JMJD1C_ENST00000399251.1_Missense_Mutation_p.E373G|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E410G	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	592					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTTCTCTTTTTCCATGTTCAA	0.388																																																	0													92.0	82.0	85.0					10																	64974152		1877	4119	5996	SO:0001583	missense	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.1775A>G	10.37:g.64974152T>C	ENSP00000382204:p.Glu592Gly		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.E592G	ENST00000399262.2	37	c.1775	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	T	14.11	2.436284	0.43224	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	6.03	6.03	0.97812	.	0.106545	0.64402	D	0.000006	T	0.42086	0.1187	L	0.47716	1.5	0.45205	D	0.998214	P;P	0.36616	0.561;0.546	B;B	0.30495	0.116;0.073	T	0.36792	-0.9733	10	0.48119	T	0.1	-21.74	16.5655	0.84588	0.0:0.0:0.0:1.0	.	592;410	Q15652;A0T124	JHD2C_HUMAN;.	G	592;373;373;410	ENSP00000382204:E592G;ENSP00000384990:E373G;ENSP00000382195:E373G;ENSP00000444682:E410G	ENSP00000382195:E373G	E	-	2	0	JMJD1C	64644158	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	6.396000	0.73234	2.302000	0.77476	0.533000	0.62120	GAA	JMJD1C	-	NULL	ENSG00000171988		0.388	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	-	0.00	45	0	T	NM_004241		64974152	-1	tier1	-	no_errors	ENST00000399262	ensembl	human	known	74_37	missense	34.00	33	17	SNP	1.000	C
JMJD7	100137047	genome.wustl.edu	37	15	42127036	42127036	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:42127036C>T	ENST00000397299.4	+	2	203	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.R55C|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R55C|JMJD7_ENST00000408047.1_Intron|PLA2G4B_ENST00000452633.1_5'Flank|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.R55C	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	55										NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						GTGCATTATCCGCAACGCTCT	0.617																																																	0													97.0	93.0	95.0					15																	42127036		2203	4300	6503	SO:0001583	missense	0				CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	ENST00000397299.4:c.163C>T	15.37:g.42127036C>T	ENSP00000380467:p.Arg55Cys		A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.R55C	ENST00000397299.4	37	c.163	CCDS45240.1	15	.	.	.	.	.	.	.	.	.	.	.	22.8	4.336327	0.81801	.	.	ENSG00000243789;ENSG00000168970;ENSG00000168970;ENSG00000168970	ENST00000397299;ENST00000542534;ENST00000382448;ENST00000342159	T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85	4.03	4.03	0.46877	.	0.000000	0.51477	D	0.000099	D	0.88621	0.6486	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.984	D	0.91165	0.4964	10	0.59425	D	0.04	-0.018	16.3519	0.83215	0.0:1.0:0.0:0.0	.	55;55;55	P0C869-7;P0C869-6;P0C870	.;.;JMJD7_HUMAN	C	55	ENSP00000380467:R55C;ENSP00000441905:R55C;ENSP00000371886:R55C;ENSP00000342785:R55C	ENSP00000380467:R55C	R	+	1	0	JMJD7-PLA2G4B;JMJD7	39914328	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.327000	0.59247	2.256000	0.74724	0.655000	0.94253	CGC	JMJD7-PLA2G4B	-	NULL	ENSG00000168970		0.617	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD7-PLA2G4B	HGNC	protein_coding	OTTHUMT00000326082.1	-	0.00	57	0	C	NM_001114632		42127036	+1	tier1	-	no_errors	ENST00000382448	ensembl	human	known	74_37	missense	18.75	26	6	SNP	1.000	T
JPH3	57338	genome.wustl.edu	37	16	87723991	87723991	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:87723991G>T	ENST00000284262.2	+	4	2267	c.2025G>T	c.(2023-2025)gtG>gtT	p.V675V	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	675					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGCCCGCCGTGCAGAAACTGG	0.692																																																	0													6.0	7.0	7.0					16																	87723991		2150	4213	6363	SO:0001819	synonymous_variant	0			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.2025G>T	16.37:g.87723991G>T			D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	pirsf_Junctophilin,pfam_MORN,smart_MORN	p.V675	ENST00000284262.2	37	c.2025	CCDS10962.1	16																																																																																			JPH3	-	pirsf_Junctophilin	ENSG00000154118		0.692	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JPH3	HGNC	protein_coding	OTTHUMT00000269108.2	-	0.00	72	0	G			87723991	+1	tier1	-	no_errors	ENST00000284262	ensembl	human	known	74_37	silent	13.21	46	7	SNP	0.895	T
JSRP1	126306	genome.wustl.edu	37	19	2252783	2252783	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:2252783C>T	ENST00000300961.6	-	7	605	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	MIR4321_ENST00000592276.1_RNA|JSRP1_ENST00000586471.2_Missense_Mutation_p.A181T	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1	181	Pro-rich.				protein localization to membrane (GO:0072657)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|skeletal muscle contraction (GO:0003009)	membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGCCTGGGCCTCGAACTTA	0.667																																																	0													16.0	21.0	19.0					19																	2252783		2128	4235	6363	SO:0001583	missense	0			AK056978	CCDS12086.1	19p13.3	2010-03-23			ENSG00000167476	ENSG00000167476			24963	protein-coding gene	gene with protein product	"""homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45"""	608743				12871958	Standard	NM_144616		Approved	JP-45, FLJ32416	uc002lvj.2	Q96MG2		ENST00000300961.6:c.541G>A	19.37:g.2252783C>T	ENSP00000300961:p.Ala181Thr			Missense_Mutation	SNP	NULL	p.A181T	ENST00000300961.6	37	c.541	CCDS12086.1	19	.	.	.	.	.	.	.	.	.	.	c	6.119	0.390239	0.11581	.	.	ENSG00000167476	ENST00000300961	T	0.21932	1.98	4.3	2.18	0.27775	.	1.327490	0.05203	N	0.505343	T	0.12902	0.0313	N	0.12182	0.205	0.09310	N	1	B	0.14438	0.01	B	0.17433	0.018	T	0.33701	-0.9858	10	0.15952	T	0.53	-4.0676	8.9659	0.35877	0.0:0.8155:0.0:0.1845	.	181	Q96MG2	JSPR1_HUMAN	T	181	ENSP00000300961:A181T	ENSP00000300961:A181T	A	-	1	0	JSRP1	2203783	0.000000	0.05858	0.007000	0.13788	0.005000	0.04900	-0.717000	0.04986	0.471000	0.27319	-0.261000	0.10672	GCC	JSRP1	-	NULL	ENSG00000167476		0.667	JSRP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JSRP1	HGNC	protein_coding	OTTHUMT00000451266.2	-	0.00	65	0	C	NM_144616		2252783	-1	tier1	-	no_errors	ENST00000300961	ensembl	human	known	74_37	missense	36.17	30	17	SNP	0.010	T
KALRN	8997	genome.wustl.edu	37	3	124397062	124397062	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:124397062C>T	ENST00000462213.1	+	2	294	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	KALRN_ENST00000360013.3_Missense_Mutation_p.R2407C|KALRN_ENST00000428018.2_Missense_Mutation_p.R678C|KALRN_ENST00000291478.5_Missense_Mutation_p.R710C			O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2406					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCATACTCTACGCATGAGAAA	0.498																																																	0													148.0	145.0	146.0					3																	124397062		2203	4300	6503	SO:0001583	missense	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000462213.1:c.70C>T	3.37:g.124397062C>T	ENSP00000418790:p.Arg24Cys		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.R2407C	ENST00000462213.1	37	c.7219		3	.	.	.	.	.	.	.	.	.	.	C	31	5.101318	0.94245	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018;ENST00000462213	T;T;T;T	0.65364	-0.15;0.42;0.42;0.42	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.75398	0.3844	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.75442	-0.3316	10	0.62326	D	0.03	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	710;2406	C9JQ37;O60229	.;KALRN_HUMAN	C	2407;710;678;24	ENSP00000353109:R2407C;ENSP00000291478:R710C;ENSP00000402419:R678C;ENSP00000418790:R24C	ENSP00000291478:R710C	R	+	1	0	KALRN	125879752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.079000	0.76829	2.861000	0.98227	0.655000	0.94253	CGC	KALRN	-	NULL	ENSG00000160145		0.498	KALRN-016	PUTATIVE	basic|exp_conf	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000356377.1	-	0.00	48	0	C	NM_003947		124397062	+1	tier1	-	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	25.64	29	10	SNP	1.000	T
KANK1	23189	genome.wustl.edu	37	9	742405	742405	+	Splice_Site	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:742405C>T	ENST00000382303.1	+	14	4549	c.3897C>T	c.(3895-3897)aaC>aaT	p.N1299N	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Splice_Site_p.N1141N|KANK1_ENST00000382297.2_Splice_Site_p.N1299N	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1299	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TAGAGGACAACGTAAGCTGTC	0.632																																																	0													42.0	43.0	43.0					9																	742405		2203	4300	6503	SO:0001630	splice_region_variant	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3897+1C>T	9.37:g.742405C>T			A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N1299	ENST00000382303.1	37	c.3897	CCDS34976.1	9																																																																																			KANK1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000107104		0.632	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	-	0.00	29	0	C	NM_015158	Silent	742405	+1	tier1	-	no_errors	ENST00000382297	ensembl	human	known	74_37	silent	38.71	19	12	SNP	0.911	T
KANSL2	54934	genome.wustl.edu	37	12	49075916	49075916	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:49075916G>A	ENST00000420613.2	-	1	39				KANSL2_ENST00000553086.1_5'UTR|KANSL2_ENST00000357861.3_Intron|KANSL2_ENST00000550347.1_Missense_Mutation_p.L17F	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2						chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											GACAAAAAGAGCGAAATAGCA	0.597																																																	0																																										SO:0001627	intron_variant	0			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.8+53C>T	12.37:g.49075916G>A			Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	NULL	p.L17F	ENST00000420613.2	37	c.49	CCDS44869.1	12	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897932	0.33535	.	.	ENSG00000139620	ENST00000550347	T	0.39056	1.1	5.0	1.97	0.26223	.	.	.	.	.	T	0.37265	0.0997	.	.	.	0.20563	N	0.999883	P	0.36249	0.545	B	0.41988	0.372	T	0.32534	-0.9903	8	0.87932	D	0	.	5.7591	0.18190	0.3408:0.0:0.6592:0.0	.	17	F8VX10	.	F	17	ENSP00000449747:L17F	ENSP00000449747:L17F	L	-	1	0	C12orf41	47362183	0.001000	0.12720	0.012000	0.15200	0.010000	0.07245	0.813000	0.27225	0.700000	0.31782	0.563000	0.77884	CTC	KANSL2	-	NULL	ENSG00000139620		0.597	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL2	HGNC	protein_coding	OTTHUMT00000408841.1	-	0.00	22	0	G	NM_017822		49075916	-1	tier1	-	no_errors	ENST00000550347	ensembl	human	putative	74_37	missense	27.78	13	5	SNP	0.007	A
KAT2B	8850	genome.wustl.edu	37	3	20142821	20142821	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:20142821G>T	ENST00000263754.4	+	5	1167	c.712G>T	c.(712-714)Gca>Tca	p.A238S		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	238					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TCACCTGCCAGCAAAAGAAAG	0.413																																																	0													98.0	86.0	90.0					3																	20142821		2203	4300	6503	SO:0001583	missense	0			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.712G>T	3.37:g.20142821G>T	ENSP00000263754:p.Ala238Ser		Q6NSK1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.A238S	ENST00000263754.4	37	c.712	CCDS2634.1	3	.	.	.	.	.	.	.	.	.	.	G	9.255	1.041805	0.19748	.	.	ENSG00000114166	ENST00000263754	T	0.19532	2.14	5.82	0.747	0.18371	PCAF, N-terminal (1);	0.162622	0.56097	N	0.000026	T	0.04137	0.0115	N	0.00707	-1.245	0.30803	N	0.739622	B	0.02656	0.0	B	0.01281	0.0	T	0.41610	-0.9499	10	0.05620	T	0.96	-1.1158	6.777	0.23624	0.0:0.1277:0.2488:0.6235	.	238	Q92831	KAT2B_HUMAN	S	238	ENSP00000263754:A238S	ENSP00000263754:A238S	A	+	1	0	KAT2B	20117825	0.927000	0.31430	0.987000	0.45799	0.985000	0.73830	1.150000	0.31639	-0.089000	0.12484	-0.397000	0.06425	GCA	KAT2B	-	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N	ENSG00000114166		0.413	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	HGNC	protein_coding	OTTHUMT00000252880.1	-	0.00	59	0	G	NM_003884		20142821	+1	tier1	-	no_errors	ENST00000263754	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.980	T
KAT6A	7994	genome.wustl.edu	37	8	41838388	41838388	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:41838388G>T	ENST00000396930.3	-	6	1426	c.883C>A	c.(883-885)Ccg>Acg	p.P295T	KAT6A_ENST00000406337.1_Missense_Mutation_p.P295T|KAT6A_ENST00000265713.2_Missense_Mutation_p.P295T|KAT6A_ENST00000485568.1_Missense_Mutation_p.P295T	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	295	Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P295A(1)									GTGAGTGGCGGATCACAACAC	0.368																																																	1	Substitution - Missense(1)	lung(1)											161.0	164.0	163.0					8																	41838388		2203	4300	6503	SO:0001583	missense	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.883C>A	8.37:g.41838388G>T	ENSP00000380136:p.Pro295Thr		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P295T	ENST00000396930.3	37	c.883	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816609	0.50633	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	D;D;D;D	0.89485	-2.51;-2.51;-2.51;-2.52	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000002	D	0.95033	0.8392	M	0.84433	2.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.999;0.999	D	0.94260	0.7501	10	0.40728	T	0.16	-16.7089	19.205	0.93726	0.0:0.0:1.0:0.0	.	295;295	A5PLL3;Q92794	.;KAT6A_HUMAN	T	295	ENSP00000265713:P295T;ENSP00000385888:P295T;ENSP00000380136:P295T;ENSP00000430606:P295T	ENSP00000265713:P295T	P	-	1	0	KAT6A	41957545	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.420000	0.97426	2.596000	0.87737	0.563000	0.77884	CCG	KAT6A	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000083168		0.368	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1		0.00	28	0	G	NM_006766		41838388	-1			no_errors	ENST00000265713	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T
KCNA6	3742	genome.wustl.edu	37	12	4919978	4919978	+	Silent	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:4919978C>A	ENST00000280684.3	+	1	1637	c.771C>A	c.(769-771)tcC>tcA	p.S257S	KCNA6_ENST00000433855.1_Silent_p.S257S|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	257					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TTGGGGGCTCCTTCTTTACAG	0.562										HNSCC(72;0.22)																																							0													86.0	90.0	89.0					12																	4919978		2203	4300	6503	SO:0001819	synonymous_variant	0			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.771C>A	12.37:g.4919978C>A				Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.S257	ENST00000280684.3	37	c.771	CCDS8534.1	12																																																																																			KCNA6	-	prints_K_chnl_volt-dep_Kv1.6	ENSG00000151079		0.562	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	-	0.00	26	0	C	NM_002235		4919978	+1	tier1	-	no_errors	ENST00000280684	ensembl	human	known	74_37	silent	19.05	51	12	SNP	0.999	A
KCNAB2	8514	genome.wustl.edu	37	1	6111717	6111717	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:6111717C>T	ENST00000164247.1	+	3	683				KCNAB2_ENST00000341524.1_Intron|KCNAB2_ENST00000378083.3_Missense_Mutation_p.R41W|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000602612.1_Intron|KCNAB2_ENST00000352527.1_Intron|KCNAB2_ENST00000378097.1_Intron|KCNAB2_ENST00000458166.2_Intron|KCNAB2_ENST00000378092.1_Intron	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2						hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGGAGGTGCGGGCGGCTGC	0.677																																																	0																																										SO:0001627	intron_variant	0			U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.119+9785C>T	1.37:g.6111717C>T			A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.R41W	ENST00000164247.1	37	c.121	CCDS55.1	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315973	0.81469	.	.	ENSG00000069424	ENST00000378083	T	0.05996	3.36	5.26	5.26	0.73747	.	0.129397	0.49916	D	0.000133	T	0.10981	0.0268	.	.	.	0.80722	D	1	D	0.65815	0.995	P	0.46975	0.533	T	0.00759	-1.1578	9	0.66056	D	0.02	.	12.908	0.58164	0.1623:0.8377:0.0:0.0	.	41	Q13303-3	.	W	41	ENSP00000367323:R41W	ENSP00000367323:R41W	R	+	1	2	KCNAB2	6034304	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.511000	0.35801	2.463000	0.83235	0.455000	0.32223	CGG	KCNAB2	-	NULL	ENSG00000069424		0.677	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	KCNAB2	HGNC	protein_coding	OTTHUMT00000002114.3		0.00	14	0	C	NM_172130		6111717	+1			no_errors	ENST00000378083	ensembl	human	known	74_37	missense	40.00	6	4	SNP	1.000	T
KCNB2	9312	genome.wustl.edu	37	8	73480397	73480397	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:73480397delA	ENST00000523207.1	+	2	1016	c.428delA	c.(427-429)caafs	p.Q143fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	143					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.E146fs*3(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGATATCATCAAAAAAAAGAA	0.448																																																	1	Deletion - Frameshift(1)	ovary(1)											106.0	112.0	110.0					8																	73480397		2203	4300	6503	SO:0001589	frameshift_variant	0			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.428delA	8.37:g.73480397delA	ENSP00000430846:p.Gln143fs		Q7Z7D0|Q9BXD3	Frame_Shift_Del	DEL	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.E146fs	ENST00000523207.1	37	c.428	CCDS6209.1	8																																																																																			KCNB2	-	prints_K_chnl_volt-dep_Kv2	ENSG00000182674		0.448	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1		0.00	52	0	A	NM_004770		73480397	+1	tier1		no_errors	ENST00000523207	ensembl	human	known	74_37	frame_shift_del	31.25	33	15	DEL	1.000	-
KCNB2	9312	genome.wustl.edu	37	8	73849363	73849363	+	Silent	SNP	C	C	T	rs146092769		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:73849363C>T	ENST00000523207.1	+	3	2361	c.1773C>T	c.(1771-1773)acC>acT	p.T591T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	591					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TGGCACAGACCGAGGTCATTG	0.562																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	69.0	65.0	67.0		1773	-2.7	1.0	8	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous	KCNB2	NM_004770.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		591/912	73849363	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1773C>T	8.37:g.73849363C>T			Q7Z7D0|Q9BXD3	Silent	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.T591	ENST00000523207.1	37	c.1773	CCDS6209.1	8																																																																																			KCNB2	-	pfam_K_chnl_volt-dep_Kv2	ENSG00000182674		0.562	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	-	0.00	22	0	C	NM_004770		73849363	+1	tier1	rs146092769	no_errors	ENST00000523207	ensembl	human	known	74_37	silent	24.24	25	8	SNP	0.022	T
KCNC3	3748	genome.wustl.edu	37	19	50819305	50819305	+	3'UTR	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:50819305delG	ENST00000477616.1	-	0	2635				KCNC3_ENST00000474951.1_3'UTR|KCNC3_ENST00000376959.2_3'UTR|KCNC3_ENST00000391818.2_Frame_Shift_Del_p.P76fs	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3						cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	GGGAAGGGGCGGGGGGGACCG	0.617																																					Melanoma(91;1496 2324 50908)												0																																										SO:0001624	3_prime_UTR_variant	0			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.*67C>-	19.37:g.50819305delG				Frame_Shift_Del	DEL	NULL	p.P75fs	ENST00000477616.1	37	c.224	CCDS12793.1	19																																																																																			KCNC3	-	NULL	ENSG00000131398		0.617	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2		0.00	24	0	G	NM_004977		50819305	-1	tier1		no_errors	ENST00000391818	ensembl	human	known	74_37	frame_shift_del	43.48	13	10	DEL	1.000	-
KCND3	3752	genome.wustl.edu	37	1	112525257	112525257	+	Missense_Mutation	SNP	G	G	A	rs374337721		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:112525257G>A	ENST00000315987.2	-	2	571	c.92C>T	c.(91-93)cCg>cTg	p.P31L	KCND3_ENST00000369697.1_Missense_Mutation_p.P31L|KCND3_ENST00000302127.4_Missense_Mutation_p.P31L	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	31					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTTGTCGGCCGGGGCCAGGGG	0.682																																																	0								G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	35.0	35.0	35.0		92,92	5.4	1.0	1		35	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCND3	NM_004980.4,NM_172198.2	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	31/656,31/637	112525257	1,13005	2203	4300	6503	SO:0001583	missense	0			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.92C>T	1.37:g.112525257G>A	ENSP00000319591:p.Pro31Leu		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.P31L	ENST00000315987.2	37	c.92	CCDS843.1	1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.350124	0.61183	0.0	1.16E-4	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.97114	-4.23;-4.25;-4.23	5.41	5.41	0.78517	Shal-type voltage-gated potassium channels (1);	0.000000	0.85682	D	0.000000	D	0.98451	0.9484	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	D	0.99402	1.0928	10	0.72032	D	0.01	.	18.7773	0.91916	0.0:0.0:1.0:0.0	.	31;31	Q14D71;Q9UK17	.;KCND3_HUMAN	L	31	ENSP00000358711:P31L;ENSP00000319591:P31L;ENSP00000306923:P31L	ENSP00000306923:P31L	P	-	2	0	KCND3	112326780	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.869000	0.99810	2.542000	0.85734	0.561000	0.74099	CCG	KCND3	-	pfam_Shal-type,prints_K_chnl_volt-dep_Kv4.3	ENSG00000171385		0.682	KCND3-001	KNOWN	basic|CCDS	protein_coding	KCND3	HGNC	protein_coding	OTTHUMT00000033144.1	-	0.00	50	0	G	NM_172198		112525257	-1	tier1	-	no_errors	ENST00000315987	ensembl	human	known	74_37	missense	38.10	26	16	SNP	1.000	A
KCNH1	3756	genome.wustl.edu	37	1	210948724	210948724	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:210948724C>T	ENST00000271751.4	-	10	2105	c.2078G>A	c.(2077-2079)cGg>cAg	p.R693Q	KCNH1_ENST00000367007.4_Missense_Mutation_p.R666Q			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	693	Calmodulin-binding.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AATCAGGTTCCGGGAGAAGGA	0.463																																																	0													88.0	82.0	84.0					1																	210948724		2203	4300	6503	SO:0001583	missense	0			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.2078G>A	1.37:g.210948724C>T	ENSP00000271751:p.Arg693Gln		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R693Q	ENST00000271751.4	37	c.2078	CCDS1496.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.099675	0.94197	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.96619	-4.07;-4.07	5.36	5.36	0.76844	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.098306	0.64402	D	0.000003	D	0.95778	0.8626	M	0.73598	2.24	0.80722	D	1	P;P	0.46987	0.888;0.817	B;B	0.39971	0.295;0.315	D	0.96414	0.9306	10	0.72032	D	0.01	.	19.0974	0.93258	0.0:1.0:0.0:0.0	.	666;693	Q14CL3;O95259	.;KCNH1_HUMAN	Q	693;666	ENSP00000271751:R693Q;ENSP00000355974:R666Q	ENSP00000271751:R693Q	R	-	2	0	KCNH1	209015347	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.538000	0.82048	2.506000	0.84524	0.555000	0.69702	CGG	KCNH1	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG	ENSG00000143473		0.463	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH1	HGNC	protein_coding	OTTHUMT00000088332.1	-	0.00	58	0	C	NM_002238		210948724	-1	tier1	-	no_errors	ENST00000271751	ensembl	human	known	74_37	missense	37.63	58	35	SNP	1.000	T
KCNH2	3757	genome.wustl.edu	37	7	150647021	150647021	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:150647021C>T	ENST00000262186.5	-	9	2800				KCNH2_ENST00000430723.3_Missense_Mutation_p.R878H|KCNH2_ENST00000330883.4_Intron|KCNH2_ENST00000392968.2_Intron	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2						cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CTGTTTGTGGCGGATCCTGAA	0.537																																					GBM(137;110 1844 13671 20123 45161)												0													23.0	33.0	30.0					7																	150647021		1101	2181	3282	SO:0001627	intron_variant	0			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.2398+234G>A	7.37:g.150647021C>T			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,tigrfam_PAS	p.R878H	ENST00000262186.5	37	c.2633	CCDS5910.1	7	.	.	.	.	.	.	.	.	.	.	C	5.630	0.300985	0.10678	.	.	ENSG00000055118	ENST00000430723	D	0.99252	-5.63	3.06	-3.47	0.04753	.	.	.	.	.	D	0.93426	0.7903	N	0.08118	0	0.09310	N	1	P;B	0.44044	0.825;0.431	B;B	0.31614	0.133;0.038	D	0.91709	0.5380	9	0.62326	D	0.03	.	0.9758	0.01426	0.3553:0.1565:0.3317:0.1565	.	878;538	G5E9I0;Q708S9	.;.	H	878	ENSP00000387657:R878H	ENSP00000387657:R878H	R	-	2	0	KCNH2	150277954	0.000000	0.05858	0.009000	0.14445	0.103000	0.19146	-0.144000	0.10280	-0.846000	0.04174	-1.894000	0.00533	CGC	KCNH2	-	NULL	ENSG00000055118		0.537	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	-	0.00	71	0	C	NM_000238		150647021	-1	tier1	-	no_errors	ENST00000430723	ensembl	human	known	74_37	missense	14.55	47	8	SNP	0.021	T
KCNH3	23416	genome.wustl.edu	37	12	49937631	49937631	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:49937631C>T	ENST00000257981.6	+	6	1083				KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3						potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGAAAGTGAGCAGGTGTCCAG	0.522																																																	0																																										SO:0001627	intron_variant	0			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.824-67C>T	12.37:g.49937631C>T			Q9UQ06	RNA	SNP	-	NULL	ENST00000257981.6	37	NULL	CCDS8786.1	12																																																																																			KCNH3	-	-	ENSG00000135519		0.522	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	-	0.00	79	0	C	NM_012284		49937631	+1	tier1	-	no_errors	ENST00000550434	ensembl	human	known	74_37	rna	7.06	79	6	SNP	0.017	T
KCNH3	23416	genome.wustl.edu	37	12	49943310	49943310	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:49943310C>T	ENST00000257981.6	+	9	1815	c.1555C>T	c.(1555-1557)Cgc>Tgc	p.R519C		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	519					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CAGCCGCACGCGCGACCTGCG	0.637																																																	0													80.0	68.0	72.0					12																	49943310		2203	4300	6503	SO:0001583	missense	0			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1555C>T	12.37:g.49943310C>T	ENSP00000257981:p.Arg519Cys		Q9UQ06	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.R519C	ENST00000257981.6	37	c.1555	CCDS8786.1	12	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589354	0.86851	.	.	ENSG00000135519	ENST00000257981	D	0.96913	-4.17	4.89	4.89	0.63831	Cyclic nucleotide-binding-like (1);	0.000000	0.48767	D	0.000170	D	0.97207	0.9087	M	0.77616	2.38	0.58432	D	0.99999	D	0.71674	0.998	P	0.60286	0.872	D	0.96931	0.9681	10	0.87932	D	0	.	10.9061	0.47081	0.1874:0.8126:0.0:0.0	.	519	Q9ULD8	KCNH3_HUMAN	C	519	ENSP00000257981:R519C	ENSP00000257981:R519C	R	+	1	0	KCNH3	48229577	0.899000	0.30636	0.999000	0.59377	0.977000	0.68977	2.794000	0.47853	2.719000	0.93026	0.655000	0.94253	CGC	KCNH3	-	superfamily_cNMP-bd-like	ENSG00000135519		0.637	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	-	0.00	88	0	C	NM_012284		49943310	+1	tier1	-	no_errors	ENST00000257981	ensembl	human	known	74_37	missense	43.10	33	25	SNP	1.000	T
KCNH8	131096	genome.wustl.edu	37	3	19190243	19190243	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:19190243delA	ENST00000328405.2	+	1	298	c.32delA	c.(31-33)caafs	p.Q11fs		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	11					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTGGCGCCGCAAAACACCTTC	0.463																																					NSCLC(124;1625 1765 8018 24930 42026)												0													153.0	139.0	144.0					3																	19190243		2203	4300	6503	SO:0001589	frameshift_variant	0			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.32delA	3.37:g.19190243delA	ENSP00000328813:p.Gln11fs		B7Z2I7|Q59GQ6	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.N12fs	ENST00000328405.2	37	c.32	CCDS2632.1	3																																																																																			KCNH8	-	NULL	ENSG00000183960		0.463	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2		0.00	112	0	A	NM_144633		19190243	+1	tier1		no_errors	ENST00000328405	ensembl	human	known	74_37	frame_shift_del	37.21	54	32	DEL	1.000	-
KCNJ10	3766	genome.wustl.edu	37	1	160011799	160011799	+	Missense_Mutation	SNP	C	C	T	rs397514673		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:160011799C>T	ENST00000368089.3	-	2	750	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	175					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	GGTCTCAGCCCGCTTCTTGGG	0.557																																					GBM(167;1368 2014 14817 36425 43215)												0													85.0	81.0	83.0					1																	160011799		2203	4300	6503	SO:0001583	missense	0			U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.524G>A	1.37:g.160011799C>T	ENSP00000357068:p.Arg175Gln		A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1	p.R175Q	ENST00000368089.3	37	c.524	CCDS1193.1	1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986945	0.93106	.	.	ENSG00000177807	ENST00000368089	D	0.96913	-4.17	5.44	5.44	0.79542	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97873	0.9301	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98319	1.0527	10	0.87932	D	0	.	16.8112	0.85720	0.0:1.0:0.0:0.0	.	175	P78508	IRK10_HUMAN	Q	175	ENSP00000357068:R175Q	ENSP00000357068:R175Q	R	-	2	0	KCNJ10	158278423	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.837000	0.97791	0.655000	0.94253	CGG	KCNJ10	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000177807		0.557	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ10	HGNC	protein_coding	OTTHUMT00000060629.1	-	0.00	35	0	C	NM_002241		160011799	-1	tier1	-	no_errors	ENST00000368089	ensembl	human	known	74_37	missense	23.81	48	15	SNP	1.000	T
SOHLH1	402381	genome.wustl.edu	37	9	138594199	138594199	+	5'Flank	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:138594199G>A	ENST00000298466.5	-	0	0				KCNT1_ENST00000487664.1_Missense_Mutation_p.G32D|KCNT1_ENST00000298480.5_Missense_Mutation_p.G32D|SOHLH1_ENST00000425225.1_5'Flank|KCNT1_ENST00000371757.2_Missense_Mutation_p.G32D	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1						oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		TTTGACGACGGCCAATGCGCC	0.731																																																	0													23.0	27.0	26.0					9																	138594199		2201	4296	6497	SO:0001631	upstream_gene_variant	0			BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915		9.37:g.138594199G>A	Exception_encountered		C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom	p.G32D	ENST00000298466.5	37	c.95	CCDS35174.1	9	.	.	.	.	.	.	.	.	.	.	G	9.303	1.053561	0.19907	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757	T;T;T	0.31510	1.84;1.49;1.49	2.28	2.28	0.28536	.	.	.	.	.	T	0.17195	0.0413	N	0.08118	0	0.31908	N	0.615086	P;B	0.38827	0.649;0.0	B;B	0.40329	0.326;0.0	T	0.15206	-1.0445	9	0.62326	D	0.03	.	8.1535	0.31154	0.0:0.0:1.0:0.0	.	32;32	B9EGP2;G5E9V0	.;.	D	32	ENSP00000417851:G32D;ENSP00000298480:G32D;ENSP00000360822:G32D	ENSP00000298480:G32D	G	+	2	0	KCNT1	137734020	0.069000	0.21087	0.256000	0.24389	0.004000	0.04260	1.598000	0.36740	1.574000	0.49760	0.650000	0.86243	GGC	KCNT1	-	NULL	ENSG00000107147		0.731	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNT1	HGNC	protein_coding	OTTHUMT00000055018.2	-	0.00	17	0	G	NM_001012415		138594199	+1	tier1	-	no_errors	ENST00000298480	ensembl	human	known	74_37	missense	66.67	4	8	SNP	0.288	A
KCNU1	157855	genome.wustl.edu	37	8	36793351	36793351	+	Silent	SNP	T	T	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:36793351T>G	ENST00000399881.3	+	27	3400	c.3363T>G	c.(3361-3363)ccT>ccG	p.P1121P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1121					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTCAGATACCTTTAGGTGACA	0.383																																																	0													112.0	110.0	111.0					8																	36793351		1866	4103	5969	SO:0001819	synonymous_variant	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.3363T>G	8.37:g.36793351T>G				Silent	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu	p.P1121	ENST00000399881.3	37	c.3363	CCDS55220.1	8																																																																																			KCNU1	-	NULL	ENSG00000215262		0.383	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	-	0.00	48	0	T	NM_001031836		36793351	+1	tier1	-	no_errors	ENST00000399881	ensembl	human	known	74_37	silent	35.21	46	25	SNP	0.000	G
KCNV1	27012	genome.wustl.edu	37	8	110980379	110980379	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:110980379G>A	ENST00000524391.1	-	4	2473	c.1441C>T	c.(1441-1443)Cga>Tga	p.R481*	KCNV1_ENST00000297404.1_Nonsense_Mutation_p.R481*			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	481					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCTTTCAGTCGCAGCATCTCC	0.403																																																	0													81.0	76.0	78.0					8																	110980379		2203	4300	6503	SO:0001587	stop_gained	0			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1441C>T	8.37:g.110980379G>A	ENSP00000435954:p.Arg481*		Q9UHJ4	Nonsense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.R481*	ENST00000524391.1	37	c.1441	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	G	40	8.348827	0.98772	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	.	.	.	5.52	4.62	0.57501	.	0.523461	0.18547	N	0.138022	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	14.5021	0.67729	0.0:0.0:0.8522:0.1478	.	.	.	.	X	481;481;357	.	ENSP00000297404:R481X	R	-	1	2	KCNV1	111049555	1.000000	0.71417	0.977000	0.42913	0.975000	0.68041	5.100000	0.64560	1.256000	0.44068	0.563000	0.77884	CGA	KCNV1	-	prints_K_chnl_volt-dep_Kv8	ENSG00000164794		0.403	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	-	0.00	47	0	G	NM_014379		110980379	-1	tier1	-	no_errors	ENST00000297404	ensembl	human	known	74_37	nonsense	30.14	51	22	SNP	1.000	A
KCNV1	27012	genome.wustl.edu	37	8	110984520	110984520	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:110984520G>T	ENST00000524391.1	-	3	1990	c.958C>A	c.(958-960)Ctg>Atg	p.L320M	KCNV1_ENST00000297404.1_Missense_Mutation_p.L320M|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	320					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AGCATGCGCAGAGCCCTGAGC	0.507																																																	0													78.0	70.0	73.0					8																	110984520		2203	4300	6503	SO:0001583	missense	0			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.958C>A	8.37:g.110984520G>T	ENSP00000435954:p.Leu320Met		Q9UHJ4	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.L320M	ENST00000524391.1	37	c.958	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790277	0.70337	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.99158	-5.5;-5.5	5.95	5.95	0.96441	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.98842	0.9609	L	0.53671	1.685	0.54753	D	0.999982	D	0.89917	1.0	D	0.75484	0.986	D	0.98413	1.0573	10	0.54805	T	0.06	.	12.6462	0.56735	0.0748:0.0:0.9252:0.0	.	320	Q6PIU1	KCNV1_HUMAN	M	320;320;196	ENSP00000435954:L320M;ENSP00000297404:L320M	ENSP00000297404:L320M	L	-	1	2	KCNV1	111053696	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.497000	0.53295	2.817000	0.96982	0.563000	0.77884	CTG	KCNV1	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000164794		0.507	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1		0.00	36	0	G	NM_014379		110984520	-1			no_errors	ENST00000297404	ensembl	human	known	74_37	missense	5.88	48	3	SNP	1.000	T
KCTD15	79047	genome.wustl.edu	37	19	34304928	34304928	+	3'UTR	DEL	C	C	-	rs547685187	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:34304928delC	ENST00000430256.3	+	0	2335				KCTD15_ENST00000592363.1_3'UTR|KCTD15_ENST00000284006.6_3'UTR			Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15						multicellular organismal development (GO:0007275)|protein homooligomerization (GO:0051260)					endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					CAAAGATGGACCCCCCCTGGC	0.627													?|CCCCCCC|CCCCCC|unsure	3	0.000599042	0.0	0.0014	5008	,	,		15260	0.002		0.0	False		,,,				2504	0.0				Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)												0																																										SO:0001624	3_prime_UTR_variant	0			AK025590	CCDS12434.1, CCDS46039.1	19q13.12	2013-06-20	2013-06-20			ENSG00000153885			23297	protein-coding gene	gene with protein product		615240	"""potassium channel tetramerisation domain containing 15"""			12477932	Standard	NM_024076		Approved	MGC25497	uc002nuw.4	Q96SI1		ENST00000430256.3:c.*1075C>-	19.37:g.34304928delC			A8K600|Q9BVI6	RNA	DEL	-	NULL	ENST00000430256.3	37	NULL	CCDS46039.1	19																																																																																			KCTD15	-	-	ENSG00000153885		0.627	KCTD15-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCTD15	HGNC	protein_coding	OTTHUMT00000451462.2		0.00	22	0	C	NM_024076		34304928	+1	tier1		no_errors	ENST00000592363	ensembl	human	putative	74_37	rna	27.27	24	9	DEL	0.001	-
KCTD19	146212	genome.wustl.edu	37	16	67325658	67325658	+	Frame_Shift_Del	DEL	G	G	-	rs201413788		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:67325658delG	ENST00000304372.5	-	13	2356	c.2301delC	c.(2299-2301)cccfs	p.P767fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	767					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TGCCCACCACGGGGGGGTGAG	0.577																																																	0													52.0	57.0	55.0					16																	67325658		1969	4150	6119	SO:0001589	frameshift_variant	0			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2301delC	16.37:g.67325658delG	ENSP00000305702:p.Pro767fs		B4DZ49|Q8N804	Frame_Shift_Del	DEL	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.V768fs	ENST00000304372.5	37	c.2301	CCDS42179.1	16																																																																																			KCTD19	-	NULL	ENSG00000168676		0.577	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD19	HGNC	protein_coding	OTTHUMT00000422061.1		0.00	70	0	G	XM_085367		67325658	-1	tier1		no_errors	ENST00000304372	ensembl	human	known	74_37	frame_shift_del	60.61	13	20	DEL	0.051	-
KCTD8	386617	genome.wustl.edu	37	4	44177100	44177100	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:44177100G>A	ENST00000360029.3	-	2	1412	c.1129C>T	c.(1129-1131)Cag>Tag	p.Q377*		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	377					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GTTGCCTGCTGGGCACTGGAT	0.502										HNSCC(17;0.042)																																							0													153.0	145.0	147.0					4																	44177100		2203	4300	6503	SO:0001587	stop_gained	0			AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1129C>T	4.37:g.44177100G>A	ENSP00000353129:p.Gln377*		A2RU39	Nonsense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.Q377*	ENST00000360029.3	37	c.1129	CCDS3467.1	4	.	.	.	.	.	.	.	.	.	.	G	3.295	-0.144054	0.06627	.	.	ENSG00000183783	ENST00000360029	.	.	.	4.47	3.62	0.41486	.	0.144769	0.31577	N	0.007419	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	11.8757	0.52546	0.0854:0.0:0.9146:0.0	.	.	.	.	X	377	.	ENSP00000353129:Q377X	Q	-	1	0	KCTD8	43871857	1.000000	0.71417	0.893000	0.35052	0.088000	0.18126	5.697000	0.68295	1.233000	0.43693	-0.237000	0.12165	CAG	KCTD8	-	NULL	ENSG00000183783		0.502	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD8	HGNC	protein_coding	OTTHUMT00000216868.1	-	0.00	107	0	G			44177100	-1	tier1	-	no_errors	ENST00000360029	ensembl	human	known	74_37	nonsense	10.64	126	15	SNP	0.968	A
KDM1B	221656	genome.wustl.edu	37	6	18212815	18212815	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:18212815G>T	ENST00000297792.5	+	14	1444	c.1267G>T	c.(1267-1269)Ggc>Tgc	p.G423C	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000388870.2_Missense_Mutation_p.G656C|KDM1B_ENST00000397244.1_Missense_Mutation_p.G424C			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	655					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CAACAGCTTAGGCGCAGGCAT	0.413																																																	0													182.0	159.0	167.0					6																	18212815		2203	4300	6503	SO:0001583	missense	0			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1267G>T	6.37:g.18212815G>T	ENSP00000297792:p.Gly423Cys		A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW	p.G656C	ENST00000297792.5	37	c.1966	CCDS34343.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.100552|5.100552	0.94245|0.94245	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869|ENST00000449850	D;D;D|.	0.94417|.	-3.42;-3.42;-3.42|.	6.01|6.01	6.01|6.01	0.97437|0.97437	Amine oxidase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87237|.	0.6127|.	H|H	0.95260|0.95260	3.645|3.645	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|.	0.89645|.	0.3865|.	10|.	0.87932|.	D|.	0|.	-8.0814|-8.0814	20.5211|20.5211	0.99222|0.99222	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	472;655;423|.	A2A2C4;Q8NB78;A2A2C6|.	.;KDM1B_HUMAN;.|.	C|Y	656;424;423;655|472	ENSP00000373522:G656C;ENSP00000380419:G424C;ENSP00000297792:G423C|.	ENSP00000297792:G423C|.	G|X	+|+	1|3	0|2	KDM1B|KDM1B	18320794|18320794	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.944000|0.944000	0.59088|0.59088	9.443000|9.443000	0.97568|0.97568	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	GGC|TAG	KDM1B	-	pfam_Amino_oxidase	ENSG00000165097		0.413	KDM1B-002	KNOWN	basic|CCDS	protein_coding	KDM1B	HGNC	protein_coding	OTTHUMT00000277080.1	-	0.00	98	0	G	NM_153042		18212815	+1	tier1	-	no_errors	ENST00000388870	ensembl	human	known	74_37	missense	6.36	103	7	SNP	1.000	T
KDM4A	9682	genome.wustl.edu	37	1	44169066	44169069	+	Intron	DEL	TTTT	TTTT	-	rs570960378|rs572109224	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:44169066_44169069delTTTT	ENST00000372396.3	+	20	2975				KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000418149.1_RNA|KDM4A-AS1_ENST00000434346.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000453015.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A						cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TATAGCTGGATTTTTTTTTTTTTT	0.436																																																	0																																										SO:0001627	intron_variant	0			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.2842-219TTTT>-	1.37:g.44169074_44169077delTTTT			Q5VVB1	RNA	DEL	-	NULL	ENST00000372396.3	37	NULL	CCDS491.1	1																																																																																			KDM4A-AS1	-	-	ENSG00000236200		0.436	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A-AS1	HGNC	protein_coding	OTTHUMT00000019960.1		0.00	13	0	TTTT	NM_014663		44169069	-1	tier1		no_errors	ENST00000453015	ensembl	human	known	74_37	rna	37.50	5	3	DEL	0.000:0.002:0.003:0.002	-
KDM4E	390245	genome.wustl.edu	37	11	94758856	94758856	+	Silent	SNP	T	T	C	rs2020207	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:94758856T>C	ENST00000450979.2	+	1	435	c.135T>C	c.(133-135)ctT>ctC	p.L45L		NM_001161630.1	NP_001155102.1	B2RXH2	KDM4E_HUMAN	lysine (K)-specific demethylase 4E	45	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				histone H3-K9 demethylation (GO:0033169)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						AAGCTGGCCTTGCCAAGGTAA	0.473													.|||	50	0.00998403	0.0113	0.0058	5008	,	,		20373	0.0198		0.005	False		,,,				2504	0.0061																0													90.0	69.0	76.0					11																	94758856		692	1591	2283	SO:0001819	synonymous_variant	0			BC157851	CCDS44713.1	11q21	2012-03-30	2012-03-28	2012-03-28		ENSG00000235268		"""Chromatin-modifying enzymes / K-demethylases"""	37098	protein-coding gene	gene with protein product			"""lysine (K)-specific demethylase 4D-like"""	KDM4DL		21076780	Standard	NM_001161630		Approved	JMJD2E	uc010ruf.1	B2RXH2		ENST00000450979.2:c.135T>C	11.37:g.94758856T>C				Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom	p.L45	ENST00000450979.2	37	c.135	CCDS44713.1	11																																																																																			KDM4E	-	pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN	ENSG00000235268		0.473	KDM4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4E	HGNC	protein_coding	OTTHUMT00000396649.1	-	0.00	32	0	T	NM_001161630		94758856	+1	tier1	rs2020207	no_errors	ENST00000450979	ensembl	human	known	74_37	silent	23.08	20	6	SNP	0.040	C
KDM5A	5927	genome.wustl.edu	37	12	416953	416953	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:416953delT	ENST00000399788.2	-	23	3959	c.3597delA	c.(3595-3597)aaafs	p.K1199fs	KDM5A_ENST00000382815.4_Frame_Shift_Del_p.K1199fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1199					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGCTGGATCCTTTTTTTTGGG	0.478			T	NUP98	AML																																			Dom	yes		12	12p11	5927	"""lysine (K)-specific demethylase 5A, JARID1A"""		L	0													107.0	104.0	105.0					12																	416953		1897	4119	6016	SO:0001589	frameshift_variant	0				CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3597delA	12.37:g.416953delT	ENSP00000382688:p.Lys1199fs		A8MV76|Q4LE72|Q86XZ1	Frame_Shift_Del	DEL	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.G1200fs	ENST00000399788.2	37	c.3597	CCDS41736.1	12																																																																																			KDM5A	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000073614		0.478	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5A	HGNC	protein_coding	OTTHUMT00000397812.1		0.00	40	0	T	NM_005056		416953	-1	tier1		no_errors	ENST00000399788	ensembl	human	known	74_37	frame_shift_del	22.77	78	23	DEL	0.987	-
KDM5B	10765	genome.wustl.edu	37	1	202710852	202710853	+	Splice_Site	INS	-	-	A	rs555074098		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:202710852_202710853insA	ENST00000367265.3	-	19	3754		c.e19-2		KDM5B_ENST00000367264.2_Splice_Site	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B						histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CAAGAGATCCTAAAAAAAAATA	0.361																																																	0																																										SO:0001630	splice_region_variant	0			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2590-2->T	1.37:g.202710861_202710861dupA			O95811|Q15752|Q9Y3Q5	Splice_Site	INS	-	e20-2	ENST00000367265.3	37	c.2698-3_2698-2	CCDS30974.1	1																																																																																			KDM5B	-	-	ENSG00000117139		0.361	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2		0.00	23	0	-	NM_006618	Intron	202710853	-1	tier1		no_errors	ENST00000367264	ensembl	human	known	74_37	splice_site_ins	22.41	45	13	INS	1.000:0.010	A
KDM6B	23135	genome.wustl.edu	37	17	7750429	7750429	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:7750429C>T	ENST00000448097.2	+	10	1247	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	KDM6B_ENST00000254846.5_Missense_Mutation_p.R306W			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	306	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ATAGGAGCAGCGGCACTCGCT	0.642																																																	0													50.0	59.0	56.0					17																	7750429		2200	4297	6497	SO:0001583	missense	0			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.916C>T	17.37:g.7750429C>T	ENSP00000412513:p.Arg306Trp		C9IZ40|Q96G33	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R306W	ENST00000448097.2	37	c.916		17	.	.	.	.	.	.	.	.	.	.	C	13.01	2.107921	0.37242	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.08370	3.1;3.1	5.36	5.36	0.76844	.	0.333481	0.25938	N	0.027327	T	0.13243	0.0321	N	0.14661	0.345	0.35830	D	0.825204	D	0.71674	0.998	D	0.66196	0.942	T	0.12630	-1.0540	10	0.87932	D	0	-14.8785	12.0216	0.53346	0.1724:0.8276:0.0:0.0	.	306	O15054-1	.	W	306	ENSP00000254846:R306W;ENSP00000412513:R306W	ENSP00000254846:R306W	R	+	1	2	KDM6B	7691154	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.063000	0.41423	2.688000	0.91661	0.561000	0.74099	CGG	KDM6B	-	NULL	ENSG00000132510		0.642	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1	-	0.00	31	0	C	XM_043272		7750429	+1	tier1	-	no_errors	ENST00000254846	ensembl	human	known	74_37	missense	45.16	17	14	SNP	1.000	T
KEAP1	9817	genome.wustl.edu	37	19	10610581	10610581	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:10610581C>T	ENST00000171111.5	-	2	676	c.129G>A	c.(127-129)acG>acA	p.T43T	KEAP1_ENST00000393623.2_Silent_p.T43T|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	43					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GCTGGGAGGGCGTCACCTCCG	0.642																																																	0													129.0	102.0	111.0					19																	10610581		2203	4300	6503	SO:0001819	synonymous_variant	0			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.129G>A	19.37:g.10610581C>T			B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T43	ENST00000171111.5	37	c.129	CCDS12239.1	19																																																																																			KEAP1	-	pirsf_Kelch-like_gigaxonin	ENSG00000079999		0.642	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	HGNC	protein_coding	OTTHUMT00000452000.1	-	0.00	59	0	C	NM_012289		10610581	-1	tier1	-	no_errors	ENST00000171111	ensembl	human	known	74_37	silent	27.78	26	10	SNP	0.979	T
KHDRBS3	10656	genome.wustl.edu	37	8	136659489	136659492	+	3'UTR	DEL	AAAA	AAAA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:136659489_136659492delAAAA	ENST00000355849.5	+	0	1613_1616				KHDRBS3_ENST00000520981.1_3'UTR	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3						regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ACCTGGGCAGAAAAAAAAAAAAAA	0.25																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.*165AAAA>-	8.37:g.136659497_136659500delAAAA			Q6NUL8|Q9UPA8	RNA	DEL	-	NULL	ENST00000355849.5	37	NULL	CCDS6374.1	8																																																																																			KHDRBS3	-	-	ENSG00000131773		0.250	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS3	HGNC	protein_coding	OTTHUMT00000377529.1		0.00	9	0	AAAA			136659492	+1	tier1		no_errors	ENST00000518728	ensembl	human	putative	74_37	rna	40.62	19	13	DEL	1.000:1.000:1.000:0.910	-
KIAA0100	9703	genome.wustl.edu	37	17	26962454	26962454	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:26962454G>A	ENST00000528896.2	-	16	2225	c.2151C>T	c.(2149-2151)ggC>ggT	p.G717G	RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.G574G|KIAA0100_ENST00000389003.3_Silent_p.G574G|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	717						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGGGGCACGGCCTTCTAGCT	0.522																																																	0													86.0	80.0	82.0					17																	26962454		2203	4300	6503	SO:0001819	synonymous_variant	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2151C>T	17.37:g.26962454G>A			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.G717	ENST00000528896.2	37	c.2151	CCDS32595.1	17																																																																																			KIAA0100	-	NULL	ENSG00000007202		0.522	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	-	0.00	83	0	G	NM_014680		26962454	-1	tier1	-	no_errors	ENST00000528896	ensembl	human	known	74_37	silent	48.31	46	43	SNP	0.000	A
KIAA0195	9772	genome.wustl.edu	37	17	73490811	73490811	+	Silent	SNP	C	C	T	rs372545349		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:73490811C>T	ENST00000314256.7	+	19	2905	c.2511C>T	c.(2509-2511)atC>atT	p.I837I	KIAA0195_ENST00000375248.5_Silent_p.I847I|AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000579208.1_Silent_p.I488I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	837						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCTGGACATCGTGCGCCTCA	0.587																																																	0								C		0,4406		0,0,2203	98.0	76.0	84.0		2511	-2.8	1.0	17		84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIAA0195	NM_014738.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		837/1357	73490811	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2511C>T	17.37:g.73490811C>T			O75536|Q86XF1	Silent	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.I837	ENST00000314256.7	37	c.2511	CCDS32732.1	17																																																																																			KIAA0195	-	NULL	ENSG00000177728		0.587	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	-	0.00	130	0	C	NM_014738		73490811	+1	tier1	-	no_errors	ENST00000314256	ensembl	human	known	74_37	silent	41.74	67	48	SNP	0.929	T
KIAA0226	9711	genome.wustl.edu	37	3	197428645	197428645	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:197428645A>G	ENST00000296343.5	-	6	660	c.661T>C	c.(661-663)Tat>Cat	p.Y221H	KIAA0226_ENST00000449205.1_Missense_Mutation_p.Y221H|KIAA0226_ENST00000389665.5_Missense_Mutation_p.Y221H|KIAA0226_ENST00000273582.5_Missense_Mutation_p.Y161H|KIAA0226_ENST00000467303.1_5'UTR	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	221	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGCTGAGCATAGCTGTTTGGA	0.517																																					Esophageal Squamous(3;167 355 3763 15924)												0													110.0	115.0	114.0					3																	197428645		1939	4144	6083	SO:0001583	missense	0			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.661T>C	3.37:g.197428645A>G	ENSP00000296343:p.Tyr221His		Q96CK5	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.Y221H	ENST00000296343.5	37	c.661	CCDS43195.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.623|8.623	0.891963|0.891963	0.17613|0.17613	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000273582;ENST00000296343;ENST00000389665;ENST00000449205	.|.	.|.	.|.	5.87|5.87	-1.05|-1.05	0.10036|0.10036	.|.	.|1.464360	.|0.03610	.|N	.|0.234711	T|T	0.18383|0.18383	0.0441|0.0441	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.09022	.|0.002;0.001;0.002;0.001	.|B;B;B;B	.|0.06405	.|0.002;0.002;0.002;0.0	T|T	0.10965|0.10965	-1.0607|-1.0607	5|9	.|0.15499	.|T	.|0.54	.|.	3.7912|3.7912	0.08721|0.08721	0.4689:0.0:0.19:0.3411|0.4689:0.0:0.19:0.3411	.|.	.|221;54;161;221	.|E9PEM3;Q5HYI6;Q92622-2;Q92622	.|.;.;.;RUBIC_HUMAN	P|H	199|161;221;221;221	.|.	.|ENSP00000273582:Y161H	L|Y	-|-	2|1	0|0	KIAA0226|KIAA0226	198913042|198913042	0.002000|0.002000	0.14202|0.14202	0.036000|0.036000	0.18154|0.18154	0.997000|0.997000	0.91878|0.91878	1.006000|1.006000	0.29847|0.29847	-0.395000|-0.395000	0.07715|0.07715	0.533000|0.533000	0.62120|0.62120	CTA|TAT	KIAA0226	-	NULL	ENSG00000145016		0.517	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	HGNC	protein_coding	OTTHUMT00000340184.1	-	0.00	120	0	A	XM_032901		197428645	-1	tier1	-	no_errors	ENST00000296343	ensembl	human	known	74_37	missense	30.23	90	39	SNP	0.000	G
KIAA0226L	80183	genome.wustl.edu	37	13	46946506	46946506	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:46946506A>G	ENST00000429979.1	-	3	709	c.105T>C	c.(103-105)acT>acC	p.T35T	KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378797.2_Silent_p.T35T|KIAA0226L_ENST00000378781.3_Silent_p.T35T|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000389908.3_Silent_p.T35T|KIAA0226L_ENST00000378787.3_Silent_p.T35T|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000378784.4_Intron|KIAA0226L_ENST00000534925.1_Intron|KIAA0226L_ENST00000480935.1_Intron	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	35										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GAGGATGGTCAGTGTTCAGGA	0.527																																																	0													69.0	58.0	62.0					13																	46946506		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.105T>C	13.37:g.46946506A>G			A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Silent	SNP	NULL	p.T35	ENST00000429979.1	37	c.105	CCDS31970.2	13																																																																																			KIAA0226L	-	NULL	ENSG00000102445		0.527	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0226L	HGNC	protein_coding	OTTHUMT00000044809.2	-	0.00	119	0	A	NM_025113		46946506	-1	tier1	-	no_errors	ENST00000389908	ensembl	human	known	74_37	silent	28.47	98	39	SNP	0.000	G
KIAA0355	9710	genome.wustl.edu	37	19	34818368	34818368	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:34818368G>T	ENST00000299505.6	+	4	1621	c.748G>T	c.(748-750)Gca>Tca	p.A250S		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	250										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TGGTTGCCTGGCAGGAATTGA	0.408																																																	0													104.0	110.0	108.0					19																	34818368		2203	4300	6503	SO:0001583	missense	0				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.748G>T	19.37:g.34818368G>T	ENSP00000299505:p.Ala250Ser		Q2M3W4	Missense_Mutation	SNP	NULL	p.A250S	ENST00000299505.6	37	c.748	CCDS12436.1	19	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160716	0.78226	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.46	5.46	0.80206	.	0.056882	0.64402	D	0.000001	T	0.43634	0.1256	N	0.11560	0.145	0.58432	D	0.999999	B	0.31705	0.336	B	0.31442	0.13	T	0.49995	-0.8879	9	0.87932	D	0	-27.1786	19.3067	0.94165	0.0:0.0:1.0:0.0	.	250	O15063	K0355_HUMAN	S	250	.	ENSP00000299505:A250S	A	+	1	0	KIAA0355	39510208	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.430000	0.80321	2.580000	0.87095	0.544000	0.68410	GCA	KIAA0355	-	NULL	ENSG00000166398		0.408	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0355	HGNC	protein_coding	OTTHUMT00000451678.4	-	0.00	58	0	G	NM_014686		34818368	+1	tier1	-	no_errors	ENST00000299505	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
KIAA1161	57462	genome.wustl.edu	37	9	34371719	34371719	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:34371719C>T	ENST00000297625.7	-	2	1346	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	408					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GAACAGCTCGCGCTCCACGCC	0.682																																																	0													22.0	26.0	25.0					9																	34371719		2030	4154	6184	SO:0001583	missense	0			AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.1121G>A	9.37:g.34371719C>T	ENSP00000297625:p.Arg374His		Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	p.R374H	ENST00000297625.7	37	c.1121		9	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524301	0.44866	.	.	ENSG00000164976	ENST00000297625	T	0.43294	0.95	5.36	5.36	0.76844	Glycoside hydrolase, superfamily (1);	0.113392	0.56097	D	0.000034	T	0.34106	0.0886	L	0.42245	1.32	0.36447	D	0.865844	P	0.46457	0.878	B	0.34590	0.186	T	0.43327	-0.9398	10	0.33940	T	0.23	-18.2902	17.6599	0.88189	0.0:1.0:0.0:0.0	.	408	Q6NSJ0	K1161_HUMAN	H	374	ENSP00000297625:R374H	ENSP00000297625:R374H	R	-	2	0	KIAA1161	34361719	0.988000	0.35896	1.000000	0.80357	0.957000	0.61999	3.091000	0.50199	2.506000	0.84524	0.462000	0.41574	CGC	KIAA1161	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000164976		0.682	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	KIAA1161	HGNC	protein_coding	OTTHUMT00000052158.1	-	0.00	17	0	C	XM_351807		34371719	-1	tier1	-	no_errors	ENST00000297625	ensembl	human	known	74_37	missense	40.91	13	9	SNP	0.999	T
CEMIP	57214	genome.wustl.edu	37	15	81217986	81217986	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:81217986C>T	ENST00000394685.3	+	19	2729	c.2310C>T	c.(2308-2310)gcC>gcT	p.A770A	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Silent_p.A770A|KIAA1199_ENST00000220244.3_Silent_p.A770A			Q8WUJ3	CEMIP_HUMAN		770					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACCAGGACGCCGACCCGCTGA	0.662																																																	0													28.0	29.0	28.0					15																	81217986		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000394685.3:c.2310C>T	15.37:g.81217986C>T			Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.A770	ENST00000394685.3	37	c.2310	CCDS10315.1	15																																																																																			KIAA1199	-	superfamily_Pectin_lyase_fold/virulence	ENSG00000103888		0.662	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1199	HGNC	protein_coding	OTTHUMT00000291389.1	-	0.00	92	0	C			81217986	+1	tier1	-	no_errors	ENST00000220244	ensembl	human	known	74_37	silent	39.06	39	25	SNP	0.142	T
KIAA1217	56243	genome.wustl.edu	37	10	24784015	24784018	+	Intron	DEL	AAAA	AAAA	-	rs570535110|rs398045908|rs533221743|rs78603449|rs550542591|rs71506836	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:24784015_24784018delAAAA	ENST00000376454.3	+	8	1814				KIAA1217_ENST00000376451.2_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000458595.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217						embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AATGGGCTTTAAAAAAAAAAAAAA	0.382																																																	0																																										SO:0001627	intron_variant	0			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1785-58AAAA>-	10.37:g.24784023_24784026delAAAA			A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	RNA	DEL	-	NULL	ENST00000376454.3	37	NULL	CCDS31165.1	10																																																																																			KIAA1217	-	-	ENSG00000120549		0.382	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2		0.00	23	0	AAAA	NM_019590		24784018	+1	tier1		no_errors	ENST00000460373	ensembl	human	putative	74_37	rna	36.67	19	11	DEL	0.000:0.003:0.002:0.000	-
KIAA1244	57221	genome.wustl.edu	37	6	138655275	138655275	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:138655275G>A	ENST00000251691.4	+	33	5458	c.5292G>A	c.(5290-5292)atG>atA	p.M1764I		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACATCTCTATGCAGAACTTGG	0.512																																																	0													41.0	44.0	43.0					6																	138655275		2203	4300	6503	SO:0001583	missense	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5292G>A	6.37:g.138655275G>A	ENSP00000251691:p.Met1764Ile			Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.M1764I	ENST00000251691.4	37	c.5292	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285183	0.40394	.	.	ENSG00000112379	ENST00000251691	T	0.17691	2.26	5.02	5.02	0.67125	.	0.232949	0.51477	D	0.000095	T	0.17238	0.0414	N	0.22421	0.69	0.58432	D	0.999997	D	0.54964	0.969	D	0.63381	0.914	T	0.06320	-1.0833	10	0.30078	T	0.28	-27.5848	18.3435	0.90313	0.0:0.0:1.0:0.0	.	1764	Q5TH69	BIG3_HUMAN	I	1764	ENSP00000251691:M1764I	ENSP00000251691:M1764I	M	+	3	0	KIAA1244	138696968	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.787000	0.99055	2.341000	0.79615	0.411000	0.27672	ATG	KIAA1244	-	NULL	ENSG00000112379		0.512	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	-	0.00	26	0	G	NM_020340		138655275	+1	tier1	-	no_errors	ENST00000251691	ensembl	human	known	74_37	missense	33.33	12	6	SNP	1.000	A
KIAA1377	57562	genome.wustl.edu	37	11	101793464	101793465	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:101793464_101793465insT	ENST00000263468.8	+	2	491_492	c.221_222insT	c.(220-225)tattttfs	p.YF74fs		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	74										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GCACGTAAATATTTTGTGGAGT	0.307																																																	0																																										SO:0001589	frameshift_variant	0			AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.225dupT	11.37:g.101793468_101793468dupT	ENSP00000263468:p.Tyr74fs		Q4G0U6	Frame_Shift_Ins	INS	NULL	p.V76fs	ENST00000263468.8	37	c.221_222	CCDS31658.1	11																																																																																			KIAA1377	-	NULL	ENSG00000110318		0.307	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1377	HGNC	protein_coding	OTTHUMT00000394140.1		0.00	24	0	-	NM_020802		101793465	+1	tier1		no_errors	ENST00000263468	ensembl	human	known	74_37	frame_shift_ins	26.47	25	9	INS	1.000:1.000	T
KIAA1456	57604	genome.wustl.edu	37	8	12878882	12878882	+	Missense_Mutation	SNP	G	G	A	rs370869117		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:12878882G>A	ENST00000524591.2	+	5	1183	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	232							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TATTTCTAAGGAAGGCGAGGA	0.418																																																	0													114.0	104.0	107.0					8																	12878882		1861	4108	5969	SO:0001583	missense	0			BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.694G>A	8.37:g.12878882G>A	ENSP00000432695:p.Glu232Lys		Q96AW6	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel	p.E232K	ENST00000524591.2	37	c.694	CCDS47808.1	8	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104477	0.37145	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.10573	2.86	5.47	4.58	0.56647	.	0.582503	0.18585	N	0.136906	T	0.11623	0.0283	L	0.56769	1.78	0.80722	D	1	B	0.30793	0.295	B	0.27608	0.081	T	0.03969	-1.0988	10	0.28530	T	0.3	-15.8913	10.8585	0.46812	0.0914:0.0:0.9086:0.0	.	232	Q9P272	K1456_HUMAN	K	232;145	ENSP00000432695:E232K	ENSP00000432695:E232K	E	+	1	0	AC135352.2	12923253	1.000000	0.71417	0.913000	0.36048	0.234000	0.25298	5.266000	0.65525	2.745000	0.94114	0.650000	0.86243	GAA	KIAA1456	-	NULL	ENSG00000250305		0.418	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1456	HGNC	protein_coding	OTTHUMT00000383262.2	-	0.00	54	0	G	NM_001099677		12878882	+1	tier1	-	no_errors	ENST00000524591	ensembl	human	known	74_37	missense	22.08	60	17	SNP	0.695	A
KIAA1467	57613	genome.wustl.edu	37	12	13221246	13221246	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:13221246T>C	ENST00000197268.8	+	8	1271	c.1151T>C	c.(1150-1152)gTt>gCt	p.V384A		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	384						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		AGTGATGGTGTTGAACTACTC	0.463																																																	0													96.0	89.0	92.0					12																	13221246		2203	4300	6503	SO:0001583	missense	0			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1151T>C	12.37:g.13221246T>C	ENSP00000197268:p.Val384Ala		Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like_supfam	p.V384A	ENST00000197268.8	37	c.1151	CCDS31750.1	12	.	.	.	.	.	.	.	.	.	.	T	21.7	4.188327	0.78789	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	T	0.37915	1.17	5.42	5.42	0.78866	.	0.246248	0.42420	D	0.000710	T	0.57533	0.2060	M	0.74881	2.28	0.49389	D	0.999789	D	0.69078	0.997	D	0.62955	0.909	T	0.62661	-0.6807	10	0.72032	D	0.01	-12.6034	14.0414	0.64676	0.0:0.0:0.0:1.0	.	384	A2RU67	K1467_HUMAN	A	384;160	ENSP00000197268:V384A	ENSP00000197268:V384A	V	+	2	0	KIAA1467	13112513	1.000000	0.71417	0.935000	0.37517	0.888000	0.51559	5.127000	0.64727	2.049000	0.60858	0.533000	0.62120	GTT	KIAA1467	-	NULL	ENSG00000084444		0.463	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1467	HGNC	protein_coding	OTTHUMT00000401007.1	-	0.00	62	0	T	NM_020853		13221246	+1	tier1	-	no_errors	ENST00000197268	ensembl	human	known	74_37	missense	15.53	87	16	SNP	0.999	C
KIAA1549	57670	genome.wustl.edu	37	7	138603524	138603524	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:138603524delA	ENST00000422774.1	-	2	896	c.848delT	c.(847-849)ttafs	p.L283fs	KIAA1549_ENST00000242365.4_Frame_Shift_Del_p.L233fs|KIAA1549_ENST00000440172.1_Frame_Shift_Del_p.L283fs			Q9HCM3	K1549_HUMAN	KIAA1549	283						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCGGGAGCTTAAAAAAAGGGT	0.517			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0													34.0	35.0	35.0					7																	138603524		1847	4087	5934	SO:0001589	frameshift_variant	0				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.848delT	7.37:g.138603524delA	ENSP00000416040:p.Leu283fs		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Frame_Shift_Del	DEL	NULL	p.L283fs	ENST00000422774.1	37	c.848	CCDS56513.1	7																																																																																			KIAA1549	-	NULL	ENSG00000122778		0.517	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1		0.00	24	0	A			138603524	-1	tier1		no_errors	ENST00000422774	ensembl	human	known	74_37	frame_shift_del	26.09	17	6	DEL	0.001	-
KIAA1614	57710	genome.wustl.edu	37	1	180885573	180885574	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:180885573_180885574insC	ENST00000367588.4	+	2	389_390	c.334_335insC	c.(334-336)tccfs	p.S112fs		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	112										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGAGTGGTCATCCCCCAAGAAA	0.594																																																	0																																										SO:0001589	frameshift_variant	0			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.339dupC	1.37:g.180885578_180885578dupC	ENSP00000356560:p.Ser112fs		Q5VZ45|Q9HCF8	Frame_Shift_Ins	INS	NULL	p.K114fs	ENST00000367588.4	37	c.334_335	CCDS41442.1	1																																																																																			KIAA1614	-	NULL	ENSG00000135835		0.594	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1		0.00	85	0	-	XM_046531		180885574	+1	tier1		no_errors	ENST00000367588	ensembl	human	known	74_37	frame_shift_ins	25.53	70	24	INS	0.003:0.003	C
KIAA1731	85459	genome.wustl.edu	37	11	93433117	93433117	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:93433117delC	ENST00000325212.6	+	15	5201	c.5039delC	c.(5038-5040)gccfs	p.A1680fs	KIAA1731_ENST00000531700.1_Intron|KIAA1731_ENST00000411936.1_Frame_Shift_Del_p.A1680fs|KIAA1731_ENST00000344196.4_5'UTR			Q9C0D2	K1731_HUMAN	KIAA1731	1680						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAACATGCAGCCCCCCCAAGT	0.418																																																	0													110.0	97.0	101.0					11																	93433117		692	1591	2283	SO:0001589	frameshift_variant	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.5039delC	11.37:g.93433117delC	ENSP00000316681:p.Ala1680fs		C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Frame_Shift_Del	DEL	NULL	p.P1682fs	ENST00000325212.6	37	c.5039	CCDS44708.1	11																																																																																			KIAA1731	-	NULL	ENSG00000166004		0.418	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1		0.00	55	0	C	NM_033395		93433117	+1	tier1		no_errors	ENST00000411936	ensembl	human	known	74_37	frame_shift_del	30.91	38	17	DEL	0.000	-
KIAA1755	85449	genome.wustl.edu	37	20	36868084	36868084	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:36868084delG	ENST00000279024.4	-	4	1864	c.1593delC	c.(1591-1593)cccfs	p.P531fs		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	531										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCAGTGGGCTGGGGGCAGTGG	0.572																																																	0													44.0	48.0	47.0					20																	36868084		2203	4300	6503	SO:0001589	frameshift_variant	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1593delC	20.37:g.36868084delG	ENSP00000279024:p.Pro531fs		Q9C0A8	Frame_Shift_Del	DEL	superfamily_CRAL-TRIO_dom	p.S532fs	ENST00000279024.4	37	c.1593	CCDS33467.1	20																																																																																			KIAA1755	-	NULL	ENSG00000149633		0.572	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3		0.00	46	0	G	NM_001029864		36868084	-1	tier1		no_errors	ENST00000279024	ensembl	human	known	74_37	frame_shift_del	45.83	26	22	DEL	0.182	-
KIAA1875	340390	genome.wustl.edu	37	8	145166383	145166383	+	Silent	SNP	G	G	A	rs368532151		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:145166383G>A	ENST00000323662.8	+	11	2506	c.2481G>A	c.(2479-2481)ccG>ccA	p.P827P				A6NE52	K1875_HUMAN	KIAA1875	827										large_intestine(1)	1						ACCTGGTGCCGAAGGAGGTGG	0.682																																																	0																																										SO:0001819	synonymous_variant	0			AB058778		8q24.3	2013-01-10			ENSG00000179698	ENSG00000179698		"""WD repeat domain containing"""	26959	protein-coding gene	gene with protein product						11347906	Standard	NR_024207		Approved		uc011lky.1	A6NE52	OTTHUMG00000165245	ENST00000323662.8:c.2481G>A	8.37:g.145166383G>A			Q96JF2	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P827	ENST00000323662.8	37	c.2481		8																																																																																			KIAA1875	-	NULL	ENSG00000179698		0.682	KIAA1875-007	PUTATIVE	basic|appris_principal	protein_coding	KIAA1875	HGNC	protein_coding	OTTHUMT00000382917.1	-	0.00	55	0	G	NM_032529		145166383	+1	tier1	-	no_errors	ENST00000323662	ensembl	human	putative	74_37	silent	32.14	38	18	SNP	0.000	A
KIAA1875	340390	genome.wustl.edu	37	8	145169722	145169722	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:145169722A>G	ENST00000323662.8	+	21	4010	c.3985A>G	c.(3985-3987)Atg>Gtg	p.M1329V				A6NE52	K1875_HUMAN	KIAA1875	1329										large_intestine(1)	1						CAAGGAGATGATGACCTGGGT	0.617																																																	0																																										SO:0001583	missense	0			AB058778		8q24.3	2013-01-10			ENSG00000179698	ENSG00000179698		"""WD repeat domain containing"""	26959	protein-coding gene	gene with protein product						11347906	Standard	NR_024207		Approved		uc011lky.1	A6NE52	OTTHUMG00000165245	ENST00000323662.8:c.3985A>G	8.37:g.145169722A>G	ENSP00000320648:p.Met1329Val		Q96JF2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M1329V	ENST00000323662.8	37	c.3985		8	.	.	.	.	.	.	.	.	.	.	A	10.76	1.441244	0.25900	.	.	ENSG00000179698	ENST00000323662	T	0.59224	0.28	5.35	-3.77	0.04346	.	.	.	.	.	T	0.41650	0.1168	.	.	.	0.09310	N	0.999993	B	0.15141	0.012	B	0.14023	0.01	T	0.37888	-0.9686	8	0.56958	D	0.05	.	8.3938	0.32544	0.2512:0.5872:0.1616:0.0	.	1329	A6NE52	K1875_HUMAN	V	1329	ENSP00000320648:M1329V	ENSP00000320648:M1329V	M	+	1	0	KIAA1875	145241710	0.000000	0.05858	0.938000	0.37757	0.463000	0.32649	-0.873000	0.04214	-0.526000	0.06383	-0.396000	0.06452	ATG	KIAA1875	-	NULL	ENSG00000179698		0.617	KIAA1875-007	PUTATIVE	basic|appris_principal	protein_coding	KIAA1875	HGNC	protein_coding	OTTHUMT00000382917.1	-	0.00	54	0	A	NM_032529		145169722	+1	tier1	-	no_errors	ENST00000323662	ensembl	human	putative	74_37	missense	35.53	49	27	SNP	0.782	G
KIAA2013	90231	genome.wustl.edu	37	1	11983512	11983512	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:11983512C>T	ENST00000376572.3	-	2	1253	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	KIAA2013_ENST00000376576.3_Silent_p.T356T	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	356						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCAGACGGCGTGTGGGTGT	0.572																																																	0													136.0	123.0	128.0					1																	11983512		2203	4300	6503	SO:0001819	synonymous_variant	0			AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1068G>A	1.37:g.11983512C>T			Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Silent	SNP	pfam_DUF2152	p.T356	ENST00000376572.3	37	c.1068	CCDS141.1	1																																																																																			KIAA2013	-	pfam_DUF2152	ENSG00000116685		0.572	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2013	HGNC	protein_coding	OTTHUMT00000006858.1	-	0.00	87	0	C	NM_138346		11983512	-1	tier1	-	no_errors	ENST00000376576	ensembl	human	known	74_37	silent	42.86	60	45	SNP	0.035	T
KIAA2018	205717	genome.wustl.edu	37	3	113374557	113374557	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:113374557C>T	ENST00000478658.1	-	5	5989	c.5972G>A	c.(5971-5973)cGt>cAt	p.R1991H	KIAA2018_ENST00000316407.4_Missense_Mutation_p.R1991H|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	1991						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TTCAGGCTGACGAATTTTGGA	0.478																																																	0													60.0	58.0	59.0					3																	113374557		1991	4169	6160	SO:0001583	missense	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.5972G>A	3.37:g.113374557C>T	ENSP00000420721:p.Arg1991His		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.R1991H	ENST00000478658.1	37	c.5972	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	c	16.14	3.039889	0.55003	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.35048	1.33;1.33	5.93	5.06	0.68205	.	0.057854	0.64402	D	0.000002	T	0.52208	0.1720	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56390	-0.7987	10	0.72032	D	0.01	-6.3731	17.3774	0.87396	0.0:0.8751:0.1249:0.0	.	1991	Q68DE3	K2018_HUMAN	H	1991	ENSP00000320794:R1991H;ENSP00000420721:R1991H	ENSP00000320794:R1991H	R	-	2	0	KIAA2018	114857247	1.000000	0.71417	0.993000	0.49108	0.627000	0.37826	5.364000	0.66110	1.533000	0.49186	-0.215000	0.12644	CGT	KIAA2018	-	NULL	ENSG00000176542		0.478	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	-	0.00	71	0	C	NM_001009899		113374557	-1	tier1	-	no_errors	ENST00000316407	ensembl	human	known	74_37	missense	42.86	32	24	SNP	1.000	T
KIAA2018	205717	genome.wustl.edu	37	3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:113380090delT	ENST00000478658.1	-	5	456	c.439delA	c.(439-441)attfs	p.I148fs	KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.I148fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	148						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373																																																	0													90.0	87.0	88.0					3																	113380090		1813	4072	5885	SO:0001589	frameshift_variant	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.439delA	3.37:g.113380090delT	ENSP00000420721:p.Ile148fs		Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.I147fs	ENST00000478658.1	37	c.439	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1		0.00	84	0	T	NM_001009899		113380090	-1	tier1		no_errors	ENST00000316407	ensembl	human	known	74_37	frame_shift_del	25.61	61	21	DEL	1.000	-
KIAA2026	158358	genome.wustl.edu	37	9	5920370	5920370	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:5920370delT	ENST00000399933.3	-	8	5625	c.5626delA	c.(5626-5628)atafs	p.I1876fs	KIAA2026_ENST00000381461.2_Frame_Shift_Del_p.I1846fs	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1876										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTGATGACTATTTTTTGCTGA	0.473																																																	0													179.0	180.0	180.0					9																	5920370		1978	4169	6147	SO:0001589	frameshift_variant	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.5626delA	9.37:g.5920370delT	ENSP00000382815:p.Ile1876fs		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Frame_Shift_Del	DEL	superfamily_Bromodomain	p.I1876fs	ENST00000399933.3	37	c.5626		9																																																																																			KIAA2026	-	NULL	ENSG00000183354		0.473	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2		0.00	78	0	T	NM_001017969		5920370	-1	tier1		no_errors	ENST00000399933	ensembl	human	novel	74_37	frame_shift_del	37.18	49	29	DEL	1.000	-
KIAA2026	158358	genome.wustl.edu	37	9	5968044	5968044	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:5968044delT	ENST00000399933.3	-	3	2186	c.2187delA	c.(2185-2187)aaafs	p.K729fs	KIAA2026_ENST00000381461.2_Frame_Shift_Del_p.K729fs	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	729	Lys-rich.							p.A730fs*15(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGTGTTTTGCTTTTTTTTTGA	0.323																																																	1	Insertion - Frameshift(1)	central_nervous_system(1)								62,50,3390		0,0,62,0,50,1639	21.0	21.0	21.0			5.0	1.0	9		21	131,99,7540		2,0,127,0,99,3657	no	codingComplex	KIAA2026	NM_001017969.2		2,0,189,0,149,5296	A1A1,A1A2,A1R,A2A2,A2R,RR		2.9601,3.1982,3.0341			5968044	193,149,10930	1814	4062	5876	SO:0001589	frameshift_variant	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2187delA	9.37:g.5968044delT	ENSP00000382815:p.Lys729fs		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Frame_Shift_Del	DEL	superfamily_Bromodomain	p.A730fs	ENST00000399933.3	37	c.2187		9																																																																																			KIAA2026	-	NULL	ENSG00000183354		0.323	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2		0.00	52	0	T	NM_001017969		5968044	-1	tier1		no_errors	ENST00000399933	ensembl	human	novel	74_37	frame_shift_del	41.07	33	23	DEL	1.000	-
KIDINS220	57498	genome.wustl.edu	37	2	8890414	8890414	+	Frame_Shift_Del	DEL	G	G	-	rs373415558		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:8890414delG	ENST00000256707.3	-	24	3423	c.3242delC	c.(3241-3243)ccgfs	p.P1081fs	KIDINS220_ENST00000473731.1_Frame_Shift_Del_p.P1081fs|KIDINS220_ENST00000418530.1_Frame_Shift_Del_p.P1039fs|KIDINS220_ENST00000427284.1_Frame_Shift_Del_p.P1081fs	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1081					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAGAGGGAGCGGGGGGTACGC	0.567																																																	0													45.0	49.0	48.0					2																	8890414		1956	4137	6093	SO:0001589	frameshift_variant	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3242delC	2.37:g.8890414delG	ENSP00000256707:p.Pro1081fs		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Frame_Shift_Del	DEL	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P1081fs	ENST00000256707.3	37	c.3242	CCDS42650.1	2																																																																																			KIDINS220	-	NULL	ENSG00000134313		0.567	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2		0.00	25	0	G	NM_020738		8890414	-1	tier1		no_errors	ENST00000256707	ensembl	human	known	74_37	frame_shift_del	35.29	11	6	DEL	0.969	-
KIF13B	23303	genome.wustl.edu	37	8	29035024	29035024	+	Silent	SNP	G	G	T	rs370558494		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:29035024G>T	ENST00000524189.1	-	9	830	c.792C>A	c.(790-792)ggC>ggA	p.G264G	KIF13B_ENST00000521515.1_Silent_p.G264G	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	264	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCCCTGCAGCGCCTGTCTTCG	0.428											OREG0018684	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													132.0	134.0	133.0					8																	29035024		1928	4151	6079	SO:0001819	synonymous_variant	0			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.792C>A	8.37:g.29035024G>T		806	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G264	ENST00000524189.1	37	c.792	CCDS55217.1	8																																																																																			KIF13B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000197892		0.428	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	-	0.00	52	0	G			29035024	-1	tier1	-	no_errors	ENST00000524189	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.851	T
KIF14	9928	genome.wustl.edu	37	1	200586843	200586843	+	Missense_Mutation	SNP	C	C	T	rs147387069		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:200586843C>T	ENST00000367350.4	-	2	1447	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	337	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GTTTCTTCTTCGGGAAGAATT	0.388																																																	0								C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	133.0	131.0	132.0		1009	2.4	0.1	1	dbSNP_134	132	0,8600		0,0,4300	no	missense	KIF14	NM_014875.2	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	337/1649	200586843	2,13004	2203	4300	6503	SO:0001583	missense	0			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1009G>A	1.37:g.200586843C>T	ENSP00000356319:p.Glu337Lys		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E337K	ENST00000367350.4	37	c.1009	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	C	9.471	1.095542	0.20471	4.54E-4	0.0	ENSG00000118193	ENST00000367350	T	0.72725	-0.68	5.48	2.41	0.29592	.	0.209202	0.33732	N	0.004619	T	0.46171	0.1379	N	0.17082	0.46	0.18873	N	0.999987	B	0.25312	0.123	B	0.12837	0.008	T	0.18147	-1.0346	10	0.22706	T	0.39	.	5.3799	0.16186	0.0:0.5056:0.3219:0.1725	.	337	Q15058	KIF14_HUMAN	K	337	ENSP00000356319:E337K	ENSP00000356319:E337K	E	-	1	0	KIF14	198853466	0.073000	0.21202	0.127000	0.21898	0.186000	0.23388	0.280000	0.18790	0.667000	0.31107	0.585000	0.79938	GAA	KIF14	-	NULL	ENSG00000118193		0.388	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1	-	0.00	107	0	C	NM_014875		200586843	-1	tier1	rs147387069	no_errors	ENST00000367350	ensembl	human	known	74_37	missense	24.61	143	47	SNP	0.147	T
KIF20B	9585	genome.wustl.edu	37	10	91497987	91497987	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:91497987delA	ENST00000371728.3	+	20	3454	c.3389delA	c.(3388-3390)gaafs	p.E1130fs	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Frame_Shift_Del_p.E1130fs|KIF20B_ENST00000260753.4_Frame_Shift_Del_p.E1090fs|KIF20B_ENST00000416354.1_Frame_Shift_Del_p.E1160fs	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1130					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAATTGCAAGAAAAAAATGTT	0.338																																																	0													62.0	71.0	68.0					10																	91497987		2202	4296	6498	SO:0001589	frameshift_variant	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3389delA	10.37:g.91497987delA	ENSP00000360793:p.Glu1130fs		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N1162fs	ENST00000371728.3	37	c.3479		10																																																																																			KIF20B	-	NULL	ENSG00000138182		0.338	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1		0.00	26	0	A	NM_016195		91497987	+1	tier1		no_errors	ENST00000416354	ensembl	human	known	74_37	frame_shift_del	34.38	21	11	DEL	0.300	-
KIF21A	55605	genome.wustl.edu	37	12	39720131	39720131	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:39720131delA	ENST00000361418.5	-	25	3356				KIF21A_ENST00000544797.2_Intron|KIF21A_ENST00000361961.3_Intron|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000395670.3_Frame_Shift_Del_p.F1112fs			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CATTTTCTACAAAAAAATGTT	0.373																																																	0													80.0	75.0	77.0					12																	39720131		2203	4299	6502	SO:0001627	intron_variant	0			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3341-5T>-	12.37:g.39720131delA			A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.F1112fs	ENST00000361418.5	37	c.3336	CCDS53776.1	12																																																																																			KIF21A	-	NULL	ENSG00000139116		0.373	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1		0.00	17	0	A	NM_017641		39720131	-1	tier1		no_errors	ENST00000395670	ensembl	human	known	74_37	frame_shift_del	20.00	20	5	DEL	0.242	-
KIF21A	55605	genome.wustl.edu	37	12	39726722	39726722	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:39726722A>G	ENST00000361418.5	-	19	2690	c.2675T>C	c.(2674-2676)tTa>tCa	p.L892S	KIF21A_ENST00000544797.2_Missense_Mutation_p.L879S|KIF21A_ENST00000361961.3_Missense_Mutation_p.L879S|KIF21A_ENST00000541463.2_Missense_Mutation_p.L856S|KIF21A_ENST00000395670.3_Missense_Mutation_p.L892S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	892				L -> S (in Ref. 2; CAJ45483). {ECO:0000305}.	ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CGGCGTTGGTAAGGCCTGGAC	0.463																																																	0													74.0	75.0	75.0					12																	39726722		2203	4300	6503	SO:0001583	missense	0			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2675T>C	12.37:g.39726722A>G	ENSP00000354878:p.Leu892Ser		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.L892S	ENST00000361418.5	37	c.2675	CCDS53776.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.173|5.173	0.217470|0.217470	0.09810|0.09810	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463|ENST00000552961	T;T;T;T;T|.	0.69306|.	-0.39;-0.35;-0.39;-0.3;-0.38|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.41194|.	D|.	0.000935|.	T|T	0.46541|0.46541	0.1398|0.1398	L|L	0.31664|0.31664	0.95|0.95	0.35676|0.35676	D|D	0.813715|0.813715	B;B;B;B;B|.	0.34290|.	0.005;0.447;0.001;0.016;0.199|.	B;B;B;B;B|.	0.33690|.	0.007;0.168;0.005;0.013;0.117|.	T|T	0.55909|0.55909	-0.8066|-0.8066	10|5	0.08837|.	T|.	0.75|.	.|.	10.1492|10.1492	0.42782|0.42782	0.9255:0.0:0.0745:0.0|0.9255:0.0:0.0745:0.0	.|.	879;856;892;879;892|.	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3|.	.;.;KI21A_HUMAN;.;.|.	S|H	879;892;892;879;892;856|240	ENSP00000354851:L879S;ENSP00000379029:L892S;ENSP00000445606:L879S;ENSP00000354878:L892S;ENSP00000438075:L856S|.	ENSP00000344501:L892S|.	L|Y	-|-	2|1	0|0	KIF21A|KIF21A	38012989|38012989	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.701000|0.701000	0.40568|0.40568	3.595000|3.595000	0.54016|0.54016	2.131000|2.131000	0.65755|0.65755	0.455000|0.455000	0.32223|0.32223	TTA|TAC	KIF21A	-	NULL	ENSG00000139116		0.463	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	-	0.00	69	0	A	NM_017641		39726722	-1	tier1	-	no_errors	ENST00000395670	ensembl	human	known	74_37	missense	32.08	35	17	SNP	1.000	G
KIF21B	23046	genome.wustl.edu	37	1	200954050	200954050	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:200954050C>T	ENST00000422435.2	-	27	4056	c.3740G>A	c.(3739-3741)cGc>cAc	p.R1247H	KIF21B_ENST00000360529.5_Missense_Mutation_p.R1247H|KIF21B_ENST00000332129.2_Missense_Mutation_p.R1247H|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1247H	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1247					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCGGTCATTGCGGGGCCGAGT	0.617																																																	0													94.0	87.0	89.0					1																	200954050		2203	4300	6503	SO:0001583	missense	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3740G>A	1.37:g.200954050C>T	ENSP00000411831:p.Arg1247His		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.R1247H	ENST00000422435.2	37	c.3740	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131585	0.77662	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.72725	-0.33;-0.64;-0.68;-0.37	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72061	0.3414	M	0.68593	2.085	0.54753	D	0.999985	B;B;B;B	0.16396	0.01;0.01;0.01;0.017	B;B;B;B	0.12156	0.005;0.005;0.003;0.007	T	0.69026	-0.5254	10	0.62326	D	0.03	.	19.5116	0.95144	0.0:1.0:0.0:0.0	.	1247;1247;1247;1247	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	H	1247	ENSP00000328494:R1247H;ENSP00000353724:R1247H;ENSP00000433808:R1247H;ENSP00000411831:R1247H	ENSP00000328494:R1247H	R	-	2	0	KIF21B	199220673	1.000000	0.71417	0.983000	0.44433	0.979000	0.70002	7.161000	0.77505	2.615000	0.88500	0.561000	0.74099	CGC	KIF21B	-	NULL	ENSG00000116852		0.617	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	-	0.00	67	0	C	XM_371332		200954050	-1	tier1	-	no_errors	ENST00000422435	ensembl	human	known	74_37	missense	29.07	61	25	SNP	1.000	T
KIF21B	23046	genome.wustl.edu	37	1	200956173	200956173	+	Missense_Mutation	SNP	G	G	A	rs376964063		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:200956173G>A	ENST00000422435.2	-	25	3881	c.3565C>T	c.(3565-3567)Cgg>Tgg	p.R1189W	KIF21B_ENST00000360529.5_Missense_Mutation_p.R1189W|KIF21B_ENST00000332129.2_Missense_Mutation_p.R1189W|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1189W	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1189					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1189W(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACCCTGTCCCGGTAATAGGGG	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)											90.0	90.0	90.0					1																	200956173		2203	4300	6503	SO:0001583	missense	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3565C>T	1.37:g.200956173G>A	ENSP00000411831:p.Arg1189Trp		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.R1189W	ENST00000422435.2	37	c.3565	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194568	0.78902	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.73363	-0.41;-0.71;-0.74;-0.44	5.17	4.26	0.50523	.	0.061312	0.64402	D	0.000007	T	0.79639	0.4480	M	0.69823	2.125	0.41880	D	0.990316	D;D;D;D	0.71674	0.996;0.996;0.991;0.998	P;P;P;P	0.55965	0.619;0.727;0.518;0.788	T	0.80944	-0.1156	10	0.87932	D	0	.	8.3854	0.32497	0.0814:0.0:0.7254:0.1931	.	1189;1189;1189;1189	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	W	1189	ENSP00000328494:R1189W;ENSP00000353724:R1189W;ENSP00000433808:R1189W;ENSP00000411831:R1189W	ENSP00000328494:R1189W	R	-	1	2	KIF21B	199222796	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.925000	0.48884	1.191000	0.43056	0.655000	0.94253	CGG	KIF21B	-	NULL	ENSG00000116852		0.587	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	-	0.00	58	0	G	XM_371332		200956173	-1	tier1	-	no_errors	ENST00000422435	ensembl	human	known	74_37	missense	26.23	45	16	SNP	1.000	A
KIF24	347240	genome.wustl.edu	37	9	34257623	34257623	+	Frame_Shift_Del	DEL	T	T	-	rs570788521	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:34257623delT	ENST00000402558.2	-	10	2006	c.1982delA	c.(1981-1983)aagfs	p.K661fs	KIF24_ENST00000379166.2_Frame_Shift_Del_p.K661fs|KIF24_ENST00000379174.3_Frame_Shift_Del_p.K527fs|KIF24_ENST00000345050.2_Frame_Shift_Del_p.K527fs			Q5T7B8	KIF24_HUMAN	kinesin family member 24	661					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K143fs*34(1)|p.K661fs*34(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTCTTCTGGCTTTTTTTTGGC	0.527													TTTTTTTT|TTTTTTTT|TTTTTTT|deletion	3	0.000599042	0.0	0.0043	5008	,	,		23710	0.0		0.0	False		,,,				2504	0.0																2	Deletion - Frameshift(2)	large_intestine(2)											65.0	65.0	65.0					9																	34257623		2203	4300	6503	SO:0001589	frameshift_variant	0			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1982delA	9.37:g.34257623delT	ENSP00000384433:p.Lys661fs		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K661fs	ENST00000402558.2	37	c.1982	CCDS6551.2	9																																																																																			KIF24	-	NULL	ENSG00000186638		0.527	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5		0.00	69	0	T			34257623	-1	tier1		no_errors	ENST00000379166	ensembl	human	known	74_37	frame_shift_del	38.98	36	23	DEL	0.000	-
KIF26B	55083	genome.wustl.edu	37	1	245849621	245849621	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:245849621C>T	ENST00000407071.2	+	12	3776	c.3336C>T	c.(3334-3336)ggC>ggT	p.G1112G	KIF26B_ENST00000366518.4_Silent_p.G731G	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1112					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGATTCCGGCGTGGCGTCTA	0.617																																																	0													65.0	73.0	70.0					1																	245849621		1939	4138	6077	SO:0001819	synonymous_variant	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3336C>T	1.37:g.245849621C>T			Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G1112	ENST00000407071.2	37	c.3336	CCDS44342.1	1																																																																																			KIF26B	-	NULL	ENSG00000162849		0.617	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1		0.00	22	0	C	XM_371354		245849621	+1			no_errors	ENST00000407071	ensembl	human	known	74_37	silent	13.04	40	6	SNP	0.001	T
KIF27	55582	genome.wustl.edu	37	9	86452378	86452378	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:86452378G>T	ENST00000297814.2	-	18	3887	c.3744C>A	c.(3742-3744)gtC>gtA	p.V1248V	RP11-575L7.2_ENST00000417672.1_RNA|RP11-575L7.2_ENST00000412069.1_RNA|RP11-575L7.2_ENST00000439378.3_RNA|KIF27_ENST00000334204.2_Silent_p.V1151V|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.2_ENST00000458016.1_RNA|KIF27_ENST00000413982.1_Silent_p.V1182V	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1248					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTGGCTTCAGGACTCCATCTC	0.353																																																	0													60.0	63.0	62.0					9																	86452378		2202	4294	6496	SO:0001819	synonymous_variant	0			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3744C>A	9.37:g.86452378G>T			B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V1248	ENST00000297814.2	37	c.3744	CCDS6665.1	9																																																																																			KIF27	-	NULL	ENSG00000165115		0.353	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	-	0.00	38	0	G	NM_017576		86452378	-1	tier1	-	no_errors	ENST00000297814	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.005	T
KIF27	55582	genome.wustl.edu	37	9	86495276	86495276	+	Missense_Mutation	SNP	C	C	T	rs200952027		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:86495276C>T	ENST00000297814.2	-	11	2722	c.2579G>A	c.(2578-2580)cGa>cAa	p.R860Q	KIF27_ENST00000376347.1_Missense_Mutation_p.R251Q|KIF27_ENST00000334204.2_Missense_Mutation_p.R860Q|KIF27_ENST00000413982.1_Intron	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	860					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATTTTCTTCTCGTAGTTTTCT	0.358																																																	0																																										SO:0001583	missense	0			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.2579G>A	9.37:g.86495276C>T	ENSP00000297814:p.Arg860Gln		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R860Q	ENST00000297814.2	37	c.2579	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872916	0.33069	.	.	ENSG00000165115	ENST00000297814;ENST00000334204;ENST00000376347	T;T;T	0.38887	1.11;1.11;1.11	4.92	4.02	0.46733	.	0.435730	0.17630	N	0.167410	T	0.39963	0.1098	M	0.71036	2.16	0.24499	N	0.994268	B;B	0.18968	0.032;0.021	B;B	0.10450	0.005;0.004	T	0.28839	-1.0031	10	0.33141	T	0.24	.	8.611	0.33801	0.0:0.7086:0.0:0.2914	.	860;860	Q86VH2-3;Q86VH2	.;KIF27_HUMAN	Q	860;860;251	ENSP00000297814:R860Q;ENSP00000333928:R860Q;ENSP00000365525:R251Q	ENSP00000297814:R860Q	R	-	2	0	KIF27	85685096	0.021000	0.18746	1.000000	0.80357	0.593000	0.36681	0.119000	0.15626	1.198000	0.43158	0.484000	0.47621	CGA	KIF27	-	NULL	ENSG00000165115		0.358	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	-	0.00	48	0	C	NM_017576		86495276	-1	tier1	rs200952027	no_errors	ENST00000297814	ensembl	human	known	74_37	missense	15.62	27	5	SNP	0.998	T
KIF3B	9371	genome.wustl.edu	37	20	30898271	30898271	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:30898271G>A	ENST00000375712.3	+	2	858	c.691G>A	c.(691-693)Gat>Aat	p.D231N	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	231	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGTGGGCCTCGATGGTGAAAA	0.507																																																	0													60.0	55.0	57.0					20																	30898271		2203	4300	6503	SO:0001583	missense	0			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.691G>A	20.37:g.30898271G>A	ENSP00000364864:p.Asp231Asn		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D231N	ENST00000375712.3	37	c.691	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656376	0.67586	.	.	ENSG00000101350	ENST00000375712	T	0.74842	-0.88	4.76	4.76	0.60689	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	L	0.41573	1.285	0.80722	D	1	B;P	0.43578	0.012;0.811	B;B	0.38985	0.052;0.287	T	0.71227	-0.4655	10	0.44086	T	0.13	.	17.9707	0.89112	0.0:0.0:1.0:0.0	.	231;231	B4DYF2;O15066	.;KIF3B_HUMAN	N	231	ENSP00000364864:D231N	ENSP00000364864:D231N	D	+	1	0	KIF3B	30361932	1.000000	0.71417	0.925000	0.36789	0.889000	0.51656	9.657000	0.98554	2.459000	0.83118	0.561000	0.74099	GAT	KIF3B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000101350		0.507	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	-	0.00	54	0	G	NM_004798		30898271	+1	tier1	-	no_errors	ENST00000375712	ensembl	human	known	74_37	missense	16.67	30	6	SNP	1.000	A
KIF6	221458	genome.wustl.edu	37	6	39513391	39513391	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:39513391G>A	ENST00000287152.7	-	11	1349	c.1255C>T	c.(1255-1257)Cgt>Tgt	p.R419C	KIF6_ENST00000373216.3_Missense_Mutation_p.R419C|KIF6_ENST00000373213.4_Missense_Mutation_p.R258C|KIF6_ENST00000373215.3_Missense_Mutation_p.R419C|KIF6_ENST00000538893.1_Missense_Mutation_p.R419C	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	419					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGAACTTTACGCATATCCGCG	0.353																																																	0													113.0	109.0	110.0					6																	39513391		2203	4300	6503	SO:0001583	missense	0			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1255C>T	6.37:g.39513391G>A	ENSP00000287152:p.Arg419Cys		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R419C	ENST00000287152.7	37	c.1255	CCDS4844.1	6	.	.	.	.	.	.	.	.	.	.	G	17.54	3.416198	0.62511	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893	T;T;T;T;T	0.73363	-0.72;-0.71;-0.56;-0.72;-0.74	5.56	5.56	0.83823	.	.	.	.	.	D	0.82504	0.5051	M	0.73217	2.22	0.80722	D	1	D;P;P;D	0.89917	1.0;0.892;0.952;1.0	D;B;P;D	0.97110	1.0;0.347;0.55;0.999	D	0.83820	0.0246	9	0.62326	D	0.03	.	15.0307	0.71705	0.0:0.0:1.0:0.0	.	419;419;419;419	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;.;KIF6_HUMAN	C	419;419;258;419;419	ENSP00000287152:R419C;ENSP00000362312:R419C;ENSP00000362309:R258C;ENSP00000362311:R419C;ENSP00000441435:R419C	ENSP00000287152:R419C	R	-	1	0	KIF6	39621369	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	5.193000	0.65120	2.609000	0.88269	0.561000	0.74099	CGT	KIF6	-	NULL	ENSG00000164627		0.353	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	-	0.00	54	0	G	NM_145027		39513391	-1	tier1	-	no_errors	ENST00000287152	ensembl	human	known	74_37	missense	42.86	28	21	SNP	1.000	A
KIF6	221458	genome.wustl.edu	37	6	39580993	39580993	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:39580993delA	ENST00000287152.7	-	6	705	c.611delT	c.(610-612)ttafs	p.L204fs	KIF6_ENST00000373216.3_Frame_Shift_Del_p.L204fs|KIF6_ENST00000373213.4_Frame_Shift_Del_p.L43fs|KIF6_ENST00000373215.3_Frame_Shift_Del_p.L204fs|KIF6_ENST00000538893.1_Frame_Shift_Del_p.L204fs	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	204	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGTGTCTCCTAAAAAAAGCAA	0.398																																																	0													114.0	106.0	109.0					6																	39580993		2203	4300	6503	SO:0001589	frameshift_variant	0			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.611delT	6.37:g.39580993delA	ENSP00000287152:p.Leu204fs		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L204fs	ENST00000287152.7	37	c.611	CCDS4844.1	6																																																																																			KIF6	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000164627		0.398	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2		0.00	39	0	A	NM_145027		39580993	-1	tier1		no_errors	ENST00000287152	ensembl	human	known	74_37	frame_shift_del	33.96	35	18	DEL	1.000	-
KIN	22944	genome.wustl.edu	37	10	7801789	7801789	+	Stop_Codon_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:7801789delA	ENST00000543003.1	-	0	1144				KIN_ENST00000463666.1_Intron|KIN_ENST00000379562.4_Intron|KIN_ENST00000535925.1_Intron					Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						CAATCCAATTAAAAAAAACTA	0.303																																																	0																																										SO:0001567	stop_retained_variant	0			AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	Exception_encountered	10.37:g.7801789delA	Exception_encountered			Frame_Shift_Del	DEL	pfam_DNA/RNA-bd_Kin17_cons_domain	p.*289fs	ENST00000543003.1	37	c.865		10																																																																																			KIN	-	NULL	ENSG00000151657		0.303	KIN-202	KNOWN	basic	protein_coding	KIN	HGNC	protein_coding			0.00	27	0	A	NM_012311		7801789	-1	tier1		no_errors	ENST00000543003	ensembl	human	known	74_37	frame_shift_del	31.25	22	10	DEL	0.031	-
KIR3DL1	3811	genome.wustl.edu	37	19	55333053	55333053	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:55333053C>T	ENST00000391728.4	+	5	722	c.689C>T	c.(688-690)cCg>cTg	p.P230L	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P230L|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P230L|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P230L|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.P230L|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.P135L	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	230					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.P230L(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCAGCCCAGCCGGGCCCCAAG	0.567																																																	2	Substitution - Missense(2)	breast(2)											56.0	55.0	55.0					19																	55333053		2181	4146	6327	SO:0001583	missense	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.689C>T	19.37:g.55333053C>T	ENSP00000375608:p.Pro230Leu		O43473|Q14946|Q16541	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.P230L	ENST00000391728.4	37	c.689	CCDS42621.1	19	.	.	.	.	.	.	.	.	.	.	-	5.916	0.353062	0.11182	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.01228	5.14;5.14;5.14;5.14;5.14;5.14	1.47	-1.08	0.09936	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.324640	0.05992	N	0.646272	T	0.02727	0.0082	M	0.84326	2.69	0.09310	N	1	B;B;B;B	0.28801	0.223;0.024;0.02;0.129	B;B;B;B	0.23275	0.045;0.009;0.038;0.025	T	0.40850	-0.9541	10	0.72032	D	0.01	.	4.3302	0.11060	0.0:0.467:0.0:0.533	.	230;135;230;230	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	L	230;230;230;208;230;230;135	ENSP00000384528:P230L;ENSP00000443350:P230L;ENSP00000442355:P230L;ENSP00000375608:P230L;ENSP00000326868:P230L;ENSP00000350901:P135L	ENSP00000326868:P230L	P	+	2	0	KIR3DL1	60024865	0.000000	0.05858	0.001000	0.08648	0.186000	0.23388	-1.232000	0.02936	-0.331000	0.08501	0.184000	0.17185	CCG	KIR3DL1	-	smart_Ig_sub	ENSG00000167633		0.567	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	HGNC	protein_coding	OTTHUMT00000141238.1	-	0.00	131	0	C	NM_013289		55333053	+1	tier1	-	no_errors	ENST00000402254	ensembl	human	known	74_37	missense	52.07	58	63	SNP	0.001	T
KIR3DL1	3811	genome.wustl.edu	37	19	55340914	55340914	+	Frame_Shift_Del	DEL	A	A	-	rs558183513		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:55340914delA	ENST00000391728.4	+	7	1132	c.1099delA	c.(1099-1101)aaafs	p.K368fs	KIR3DL1_ENST00000541392.1_Frame_Shift_Del_p.K351fs|KIR3DL1_ENST00000538269.1_Frame_Shift_Del_p.K368fs|KIR3DL1_ENST00000326542.7_Frame_Shift_Del_p.K351fs|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Frame_Shift_Del_p.K273fs	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	368					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GTGCTCCAACAAAAAAAGTAA	0.537																																																	0													153.0	119.0	131.0					19																	55340914		2170	4146	6316	SO:0001589	frameshift_variant	0			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1099delA	19.37:g.55340914delA	ENSP00000375608:p.Lys368fs		O43473|Q14946|Q16541	Frame_Shift_Del	DEL	pfam_Immunoglobulin,smart_Ig_sub	p.N369fs	ENST00000391728.4	37	c.1099	CCDS42621.1	19																																																																																			KIR3DL1	-	NULL	ENSG00000167633		0.537	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	HGNC	protein_coding	OTTHUMT00000141238.1		0.00	238	0	A	NM_013289		55340914	+1	tier1		no_errors	ENST00000391728	ensembl	human	known	74_37	frame_shift_del	33.16	129	64	DEL	0.004	-
KIRREL	55243	genome.wustl.edu	37	1	158054356	158054356	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:158054356C>T	ENST00000359209.6	+	4	564	c.497C>T	c.(496-498)gCt>gTt	p.A166V	KIRREL_ENST00000368172.1_5'Flank|KIRREL_ENST00000368173.3_Missense_Mutation_p.A166V|KIRREL_ENST00000416935.2_Missense_Mutation_p.A66V|KIRREL_ENST00000392272.2_Intron|KIRREL_ENST00000360089.4_Intron			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	166	Ig-like C2-type 2.				excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CAGGAGGGCGCTGTGGCCAGC	0.662																																																	0													41.0	46.0	45.0					1																	158054356		692	1591	2283	SO:0001583	missense	0			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.497C>T	1.37:g.158054356C>T	ENSP00000352138:p.Ala166Val		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A166V	ENST00000359209.6	37	c.497	CCDS1172.2	1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315337	0.81358	.	.	ENSG00000183853	ENST00000368173;ENST00000359209;ENST00000416935	T;T;T	0.75938	-0.98;-0.98;-0.98	5.64	4.67	0.58626	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42964	D	0.000626	T	0.71937	0.3399	M	0.70275	2.135	0.54753	D	0.999989	P;P	0.49447	0.783;0.924	P;P	0.52823	0.527;0.71	T	0.72805	-0.4182	10	0.40728	T	0.16	-20.2426	8.7528	0.34629	0.1684:0.6689:0.1626:0.0	.	66;166	B4DN67;Q96J84	.;KIRR1_HUMAN	V	166;166;66	ENSP00000357155:A166V;ENSP00000352138:A166V;ENSP00000389674:A66V	ENSP00000352138:A166V	A	+	2	0	KIRREL	156320980	1.000000	0.71417	0.610000	0.28997	0.782000	0.44232	4.523000	0.60545	2.665000	0.90641	0.557000	0.71058	GCT	KIRREL	-	pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000183853		0.662	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	HGNC	protein_coding	OTTHUMT00000058342.3	-	0.00	67	0	C	NM_018240		158054356	+1	tier1	-	no_errors	ENST00000368173	ensembl	human	known	74_37	missense	23.64	41	13	SNP	0.989	T
KIRREL	55243	genome.wustl.edu	37	1	158064153	158064153	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:158064153C>T	ENST00000359209.6	+	14	1837	c.1770C>T	c.(1768-1770)atC>atT	p.I590I	KIRREL_ENST00000368172.1_Silent_p.I404I|KIRREL_ENST00000368173.3_Silent_p.I606I|KIRREL_ENST00000416935.2_Silent_p.I490I|KIRREL_ENST00000392272.2_Silent_p.I487I|KIRREL_ENST00000360089.4_Silent_p.I426I			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	590					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCGACACCATCGACACCCGGG	0.602																																																	0													50.0	45.0	47.0					1																	158064153		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1770C>T	1.37:g.158064153C>T			Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.I606	ENST00000359209.6	37	c.1818	CCDS1172.2	1																																																																																			KIRREL	-	NULL	ENSG00000183853		0.602	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	HGNC	protein_coding	OTTHUMT00000058342.3	-	0.00	28	0	C	NM_018240		158064153	+1	tier1	-	no_errors	ENST00000368173	ensembl	human	known	74_37	silent	30.00	35	15	SNP	0.270	T
KIRREL3	84623	genome.wustl.edu	37	11	126299148	126299148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:126299148G>A	ENST00000525144.2	-	15	1981	c.1732C>T	c.(1732-1734)Cga>Tga	p.R578*	KIRREL3_ENST00000529097.2_Nonsense_Mutation_p.R566*|KIRREL3_ENST00000416561.2_Nonsense_Mutation_p.R45*	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	578					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		ATTTCCACTCGGATATCATTT	0.458																																																	0													96.0	99.0	98.0					11																	126299148		1942	4138	6080	SO:0001587	stop_gained	0			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1732C>T	11.37:g.126299148G>A	ENSP00000435466:p.Arg578*		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R578*	ENST00000525144.2	37	c.1732	CCDS53723.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.421659	0.97555	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000416561	.	.	.	5.66	4.71	0.59529	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7594	15.9821	0.80116	0.0:0.0:0.8647:0.1353	.	.	.	.	X	578;566;45	.	ENSP00000408692:R45X	R	-	1	2	KIRREL3	125804358	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.330000	0.65899	2.668000	0.90789	0.561000	0.74099	CGA	KIRREL3	-	NULL	ENSG00000149571		0.458	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL3	HGNC	protein_coding	OTTHUMT00000386479.2	-	0.00	64	0	G	NM_032531		126299148	-1	tier1	-	no_errors	ENST00000525144	ensembl	human	known	74_37	nonsense	36.67	37	22	SNP	1.000	A
KIT	3815	genome.wustl.edu	37	4	55561889	55561889	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:55561889C>T	ENST00000288135.5	+	2	376	c.279C>T	c.(277-279)ggC>ggT	p.G93G		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	93	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCAACACCGGCAAATACACGT	0.428		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	0													84.0	79.0	80.0					4																	55561889		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.279C>T	4.37:g.55561889C>T			B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.G93	ENST00000288135.5	37	c.279	CCDS3496.1	4																																																																																			KIT	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub	ENSG00000157404		0.428	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1	-	0.00	31	0	C			55561889	+1	tier1	-	no_errors	ENST00000288135	ensembl	human	known	74_37	silent	46.15	21	18	SNP	0.995	T
KITLG	4254	genome.wustl.edu	37	12	88900860	88900860	+	Missense_Mutation	SNP	A	A	G	rs372594912		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:88900860A>G	ENST00000228280.5	-	7	841	c.659T>C	c.(658-660)tTg>tCg	p.L220S	KITLG_ENST00000347404.5_Missense_Mutation_p.L192S|KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Missense_Mutation_p.L3S	NM_000899.4	NP_000890.1	P21583	SCF_HUMAN	KIT ligand	220					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|negative regulation of mast cell apoptotic process (GO:0033026)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of myeloid leukocyte differentiation (GO:0002763)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	stem cell factor receptor binding (GO:0005173)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						CAATGCTGGCAATGCCATGGC	0.398									Testicular Cancer, Familial Clustering of																																								0								A	SER/LEU,SER/LEU	0,4406		0,0,2203	74.0	80.0	78.0		659,575	5.7	1.0	12		78	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KITLG	NM_000899.4,NM_003994.5	145,145	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging	220/274,192/246	88900860	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database		M59964	CCDS31867.1, CCDS31868.1	12q22	2010-11-23			ENSG00000049130	ENSG00000049130			6343	protein-coding gene	gene with protein product	"""mast cell growth factor"", ""stem cell factor"", ""steel factor"", ""familial progressive hyperpigmentation 2"""	184745		MGF		2208279, 1707188, 19375057	Standard	NM_003994		Approved	SCF, SF, Kitl, KL-1, FPH2	uc001tav.3	P21583	OTTHUMG00000169888	ENST00000228280.5:c.659T>C	12.37:g.88900860A>G	ENSP00000228280:p.Leu220Ser		A0AV09|A8K2Q4|B7ZLM4|Q16487|Q68DZ2|Q7M4N8|Q9UQK7	Missense_Mutation	SNP	pfam_SCF,superfamily_4_helix_cytokine-like_core,pirsf_SCF	p.L220S	ENST00000228280.5	37	c.659	CCDS31868.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.381658|4.381658	0.82792|0.82792	0.0|0.0	1.16E-4|1.16E-4	ENSG00000049130|ENSG00000049130	ENST00000537835|ENST00000378535;ENST00000228280;ENST00000347404	.|T;T	.|0.73469	.|-0.75;-0.75	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.199048	.|0.43579	.|D	.|0.000556	D|D	0.83294|0.83294	0.5223|0.5223	M|M	0.63843|0.63843	1.955|1.955	0.42975|0.42975	D|D	0.994444|0.994444	.|D;D	.|0.69078	.|0.996;0.997	.|P;D	.|0.65874	.|0.9;0.939	D|D	0.85452|0.85452	0.1161|0.1161	6|10	0.87932|0.87932	D|D	0|0	-3.0249|-3.0249	14.491|14.491	0.67651|0.67651	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|192;220	.|P21583-2;P21583	.|.;SCF_HUMAN	R|S	24|185;220;192	.|ENSP00000228280:L220S;ENSP00000054216:L192S	ENSP00000438889:C24R|ENSP00000228280:L220S	C|L	-|-	1|2	0|0	KITLG|KITLG	87424991|87424991	0.999000|0.999000	0.42202|0.42202	0.962000|0.962000	0.40283|0.40283	0.988000|0.988000	0.76386|0.76386	5.705000|5.705000	0.68355|0.68355	2.161000|2.161000	0.67846|0.67846	0.533000|0.533000	0.62120|0.62120	TGC|TTG	KITLG	-	pfam_SCF,pirsf_SCF	ENSG00000049130		0.398	KITLG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KITLG	HGNC	protein_coding	OTTHUMT00000406424.2	-	0.00	30	0	A	NM_003994		88900860	-1	tier1	-	no_errors	ENST00000228280	ensembl	human	known	74_37	missense	30.00	28	12	SNP	0.961	G
KLF13	51621	genome.wustl.edu	37	15	31669829	31669830	+	3'UTR	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:31669829_31669830insT	ENST00000307145.3	+	0	6552_6553					NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13						negative regulation of cell proliferation (GO:0008285)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		TCTGTAGGAACTTTTTTTTAAC	0.446																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF132599	CCDS10025.1	15q13.3	2013-01-08			ENSG00000169926	ENSG00000169926		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	13672	protein-coding gene	gene with protein product		605328				10415854, 10023774	Standard	NM_015995		Approved	RFLAT-1, BTEB3, NSLP1, FKLF-2	uc001zfo.3	Q9Y2Y9	OTTHUMG00000172224	ENST00000307145.3:c.*5328->T	15.37:g.31669837_31669837dupT			Q9Y356	RNA	INS	-	NULL	ENST00000307145.3	37	NULL	CCDS10025.1	15																																																																																			KLF13	-	-	ENSG00000169926		0.446	KLF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF13	HGNC	protein_coding	OTTHUMT00000251381.1		0.00	77	0	-	NM_015995		31669830	+1	tier1		no_errors	ENST00000558673	ensembl	human	known	74_37	rna	28.24	61	24	INS	0.009:0.003	T
KLF15	28999	genome.wustl.edu	37	3	126070691	126070691	+	Missense_Mutation	SNP	C	C	T	rs557895851		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:126070691C>T	ENST00000296233.3	-	2	1305	c.1075G>A	c.(1075-1077)Ggc>Agc	p.G359S	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	359					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GACCTCCAGCCGCAGCCTGGC	0.607																																																	0													51.0	55.0	54.0					3																	126070691		2203	4300	6503	SO:0001583	missense	0			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.1075G>A	3.37:g.126070691C>T	ENSP00000296233:p.Gly359Ser			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G359S	ENST00000296233.3	37	c.1075	CCDS3036.1	3	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669578	0.88348	.	.	ENSG00000163884	ENST00000296233	T	0.72505	-0.66	5.37	5.37	0.77165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.046753	0.85682	D	0.000000	T	0.76709	0.4025	L	0.31926	0.97	0.58432	D	0.999995	D	0.76494	0.999	D	0.65874	0.939	T	0.78537	-0.2166	10	0.66056	D	0.02	.	16.9708	0.86298	0.0:1.0:0.0:0.0	.	359	Q9UIH9	KLF15_HUMAN	S	359	ENSP00000296233:G359S	ENSP00000296233:G359S	G	-	1	0	KLF15	127553381	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.875000	0.63072	2.688000	0.91661	0.491000	0.48974	GGC	KLF15	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000163884		0.607	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	HGNC	protein_coding	OTTHUMT00000370096.1	-	0.00	77	0	C	NM_014079		126070691	-1	tier1	-	no_errors	ENST00000296233	ensembl	human	known	74_37	missense	40.38	31	21	SNP	1.000	T
KLF17	128209	genome.wustl.edu	37	1	44595030	44595030	+	Silent	SNP	C	C	T	rs376492523		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:44595030C>T	ENST00000372299.3	+	2	145	c.87C>T	c.(85-87)aaC>aaT	p.N29N	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	29					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CCAAGGATAACGAGAACTCAG	0.488																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	123.0	118.0	120.0		87	-2.0	0.0	1		120	0,8600		0,0,4300	no	coding-synonymous	KLF17	NM_173484.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		29/390	44595030	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.87C>T	1.37:g.44595030C>T			Q86VQ7|Q8N805	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N29	ENST00000372299.3	37	c.87	CCDS508.1	1																																																																																			KLF17	-	NULL	ENSG00000171872		0.488	KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF17	HGNC	protein_coding	OTTHUMT00000026646.1	-	0.00	41	0	C	NM_173484		44595030	+1	tier1	-	no_errors	ENST00000372299	ensembl	human	known	74_37	silent	32.61	31	15	SNP	0.000	T
KLF3	51274	genome.wustl.edu	37	4	38690459	38690460	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:38690459_38690460insA	ENST00000261438.5	+	3	616_617	c.311_312insA	c.(310-315)ataaaafs	p.IK104fs	KLF3_ENST00000514033.1_Frame_Shift_Ins_p.IK104fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	104	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AGCCCACCGATAAAAAAATACT	0.614																																																	0																																										SO:0001589	frameshift_variant	0			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.318dupA	4.37:g.38690466_38690466dupA	ENSP00000261438:p.Ile104fs		Q6PIR1|Q86TN0|Q9P2X6	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y107fs	ENST00000261438.5	37	c.311_312	CCDS3444.1	4																																																																																			KLF3	-	NULL	ENSG00000109787		0.614	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF3	HGNC	protein_coding	OTTHUMT00000215093.2		0.00	47	0	-			38690460	+1	tier1		no_errors	ENST00000261438	ensembl	human	known	74_37	frame_shift_ins	28.57	35	14	INS	0.010:0.008	A
KLF3	51274	genome.wustl.edu	37	4	38690460	38690460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:38690460delA	ENST00000261438.5	+	3	617	c.312delA	c.(310-312)atafs	p.I104fs	KLF3_ENST00000514033.1_Frame_Shift_Del_p.I104fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	104	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						GCCCACCGATAAAAAAATACT	0.617																																																	0													69.0	70.0	69.0					4																	38690460		2203	4300	6503	SO:0001589	frameshift_variant	0			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.312delA	4.37:g.38690460delA	ENSP00000261438:p.Ile104fs		Q6PIR1|Q86TN0|Q9P2X6	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K106fs	ENST00000261438.5	37	c.312	CCDS3444.1	4																																																																																			KLF3	-	NULL	ENSG00000109787		0.617	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF3	HGNC	protein_coding	OTTHUMT00000215093.2		0.00	46	0	A			38690460	+1	tier1		no_errors	ENST00000261438	ensembl	human	known	74_37	frame_shift_del	32.65	33	16	DEL	0.008	-
KLF3	51274	genome.wustl.edu	37	4	38690547	38690547	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:38690547G>A	ENST00000261438.5	+	3	704	c.399G>A	c.(397-399)cgG>cgA	p.R133R	KLF3_ENST00000514033.1_Silent_p.R133R	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	133	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						CCCTCTCGCGGCATGGAATAC	0.627																																																	0													40.0	45.0	43.0					4																	38690547		2203	4300	6503	SO:0001819	synonymous_variant	0			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.399G>A	4.37:g.38690547G>A			Q6PIR1|Q86TN0|Q9P2X6	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R133	ENST00000261438.5	37	c.399	CCDS3444.1	4																																																																																			KLF3	-	NULL	ENSG00000109787		0.627	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF3	HGNC	protein_coding	OTTHUMT00000215093.2	-	0.00	66	0	G			38690547	+1	tier1	-	no_errors	ENST00000261438	ensembl	human	known	74_37	silent	37.29	37	22	SNP	0.894	A
KLF7	8609	genome.wustl.edu	37	2	207945785	207945786	+	3'UTR	INS	-	-	TGTG	rs1128555|rs113821778|rs59847589|rs72473152	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:207945785_207945786insTGTG	ENST00000309446.6	-	0	1436_1437				KLF7_ENST00000467833.1_5'UTR|KLF7_ENST00000458272.1_3'UTR|KLF7_ENST00000423015.1_3'UTR|KLF7_ENST00000412414.2_3'UTR|KLF7_ENST00000421199.1_3'UTR	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)						axon guidance (GO:0007411)|dendrite morphogenesis (GO:0048813)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		gtgtgtgtatatgtgtgtgtgt	0.47																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB015132	CCDS2373.1, CCDS59438.1, CCDS59439.1, CCDS59440.1	2q32	2013-01-08			ENSG00000118263	ENSG00000118263		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6350	protein-coding gene	gene with protein product		604865				9774444	Standard	NM_003709		Approved	UKLF	uc010zix.2	O75840	OTTHUMG00000132935	ENST00000309446.6:c.*152->CACA	2.37:g.207945790_207945793dupTGTG			B2RB03|B7Z4F7|C9JF04|E7EWH1|L0R4P2|Q7Z3H8|Q96E51	RNA	INS	-	NULL	ENST00000309446.6	37	NULL	CCDS2373.1	2																																																																																			KLF7	-	-	ENSG00000118263		0.470	KLF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF7	HGNC	protein_coding	OTTHUMT00000256466.2		0.00	34	0	-	NM_003709		207945786	-1	tier1		no_errors	ENST00000467833	ensembl	human	putative	74_37	rna	23.08	50	15	INS	1.000:1.000	TGTG
KLHL17	339451	genome.wustl.edu	37	1	900526	900526	+	Silent	SNP	G	G	A	rs146302352	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:900526G>A	ENST00000338591.3	+	12	1991	c.1884G>A	c.(1882-1884)ccG>ccA	p.P628P	PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	628	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCAATTTCCCGCCGCCATCCT	0.647																																																	0								G		3,4397	6.2+/-15.9	0,3,2197	79.0	61.0	67.0		1884	-11.3	0.0	1	dbSNP_134	67	15,8581	11.2+/-40.8	0,15,4283	no	coding-synonymous	KLHL17	NM_198317.2		0,18,6480	AA,AG,GG		0.1745,0.0682,0.1385		628/643	900526	18,12978	2200	4298	6498	SO:0001819	synonymous_variant	0			AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.1884G>A	1.37:g.900526G>A			Q5SV94	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.P628	ENST00000338591.3	37	c.1884	CCDS30550.1	1																																																																																			KLHL17	-	pirsf_Kelch-like_gigaxonin	ENSG00000187961		0.647	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL17	HGNC	protein_coding	OTTHUMT00000097875.3	-	0.00	167	0	G	NM_198317		900526	+1	tier1	rs146302352	no_errors	ENST00000338591	ensembl	human	known	74_37	silent	37.19	75	45	SNP	0.000	A
KLHL29	114818	genome.wustl.edu	37	2	23785143	23785143	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:23785143C>T	ENST00000486442.1	+	3	794	c.77C>T	c.(76-78)aCg>aTg	p.T26M		NM_052920.1	NP_443152.1	Q96CT2	KLH29_HUMAN	kelch-like family member 29	26										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|lung(1)|ovary(3)	10						GTCAACGGGACGCATGGGACC	0.701																																																	0													14.0	22.0	20.0					2																	23785143		692	1591	2283	SO:0001583	missense	0				CCDS54335.1	2p23.3	2013-09-27	2013-02-22	2007-01-09	ENSG00000119771	ENSG00000119771		"""Kelch-like"", ""BTB/POZ domain containing"""	29404	protein-coding gene	gene with protein product			"""kelch repeat and BTB (POZ) domain containing 9"", ""kelch-like 29 (Drosophila)"""	KBTBD9		11572484	Standard	NM_052920		Approved	KIAA1921	uc010ykg.2	Q96CT2	OTTHUMG00000151899	ENST00000486442.1:c.77C>T	2.37:g.23785143C>T	ENSP00000420659:p.Thr26Met		Q8N388|Q96BF0|Q96PW7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.T26M	ENST00000486442.1	37	c.77	CCDS54335.1	2	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464202	0.43736	.	.	ENSG00000119771	ENST00000486442	T	0.71817	-0.6	4.73	3.84	0.44239	.	.	.	.	.	T	0.68805	0.3041	N	0.19112	0.55	0.26567	N	0.973624	D	0.89917	1.0	D	0.66196	0.942	T	0.58329	-0.7655	9	0.87932	D	0	.	5.9273	0.19120	0.3315:0.5737:0.0:0.0948	.	53	Q6NT65	.	M	26	ENSP00000420659:T26M	ENSP00000420659:T26M	T	+	2	0	KLHL29	23638648	0.858000	0.29795	0.992000	0.48379	0.928000	0.56348	1.505000	0.35736	2.361000	0.80049	0.491000	0.48974	ACG	KLHL29	-	NULL	ENSG00000119771		0.701	KLHL29-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	KLHL29	HGNC	protein_coding	OTTHUMT00000324315.3	-	0.00	73	0	C	NM_052920		23785143	+1	tier1	-	no_errors	ENST00000486442	ensembl	human	known	74_37	missense	33.33	38	19	SNP	0.954	T
KLHL38	340359	genome.wustl.edu	37	8	124664405	124664405	+	Silent	SNP	G	G	T	rs373627238		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:124664405G>T	ENST00000325995.7	-	1	785	c.762C>A	c.(760-762)acC>acA	p.T254T	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	254										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GTCTCTTGGCGGTCTCCAAGA	0.537																																																	0													65.0	68.0	67.0					8																	124664405		2091	4225	6316	SO:0001819	synonymous_variant	0				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.762C>A	8.37:g.124664405G>T			A0PK12	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.T254	ENST00000325995.7	37	c.762	CCDS43766.1	8																																																																																			KLHL38	-	pirsf_Kelch-like_gigaxonin	ENSG00000175946		0.537	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1		0.00	40	0	G			124664405	-1			no_errors	ENST00000325995	ensembl	human	known	74_37	silent	5.45	52	3	SNP	0.000	T
KLHL41	10324	genome.wustl.edu	37	2	170366496	170366496	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:170366496delA	ENST00000284669.1	+	1	285	c.208delA	c.(208-210)aaafs	p.K72fs	RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	72	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TGATGAGGCGAAAAAAAAGGA	0.388																																																	0													145.0	144.0	145.0					2																	170366496		2203	4300	6503	SO:0001589	frameshift_variant	0			AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.208delA	2.37:g.170366496delA	ENSP00000284669:p.Lys72fs		Q53R42	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.K72fs	ENST00000284669.1	37	c.208	CCDS2234.1	2																																																																																			KLHL41	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000239474		0.388	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL41	HGNC	protein_coding	OTTHUMT00000255263.1		0.00	33	0	A	NM_006063		170366496	+1	tier1		no_errors	ENST00000284669	ensembl	human	known	74_37	frame_shift_del	32.56	29	14	DEL	1.000	-
KLHL42	57542	genome.wustl.edu	37	12	27950769	27950769	+	Frame_Shift_Del	DEL	G	G	-	rs145908611	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:27950769delG	ENST00000381271.2	+	3	1499	c.1188delG	c.(1186-1188)gtgfs	p.V396fs	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	396					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TCTACATCGTGGGGGGGTGTC	0.592																																																	0													102.0	99.0	100.0					12																	27950769		2203	4300	6503	SO:0001589	frameshift_variant	0			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1188delG	12.37:g.27950769delG	ENSP00000370671:p.Val396fs		Q2VPK1|Q8N334	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like	p.C399fs	ENST00000381271.2	37	c.1188	CCDS31763.1	12																																																																																			KLHL42	-	NULL	ENSG00000087448		0.592	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL42	HGNC	protein_coding	OTTHUMT00000402904.1		0.00	41	0	G	NM_020782		27950769	+1	tier1		no_errors	ENST00000381271	ensembl	human	known	74_37	frame_shift_del	29.17	51	21	DEL	0.988	-
KLHL7	55975	genome.wustl.edu	37	7	23180534	23180534	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:23180534G>T	ENST00000339077.5	+	5	832	c.589G>T	c.(589-591)Gac>Tac	p.D197Y	KLHL7_ENST00000545443.1_Missense_Mutation_p.D175Y|KLHL7_ENST00000409689.1_Missense_Mutation_p.D149Y|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.D121Y|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000322231.7_Missense_Mutation_p.D175Y	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	197	BACK.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCTCAACCAGGACACTCTGAC	0.358																																																	0													115.0	109.0	111.0					7																	23180534		2203	4300	6503	SO:0001583	missense	0				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.589G>T	7.37:g.23180534G>T	ENSP00000343273:p.Asp197Tyr		A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D197Y	ENST00000339077.5	37	c.589	CCDS34609.1	7	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650799	0.87958	.	.	ENSG00000122550	ENST00000536369;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.39	5.39	0.77823	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.90998	0.7169	H	0.96080	3.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.98	D	0.93446	0.6798	10	0.87932	D	0	.	19.5163	0.95167	0.0:0.0:1.0:0.0	.	197;175	Q8IXQ5;Q8IXQ5-2	KLHL7_HUMAN;.	Y	163;175;197;121;149;175	ENSP00000322958:D175Y;ENSP00000343273:D197Y;ENSP00000441136:D121Y;ENSP00000386263:D149Y;ENSP00000442366:D175Y	ENSP00000322958:D175Y	D	+	1	0	KLHL7	23147059	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.143000	0.94623	2.683000	0.91414	0.591000	0.81541	GAC	KLHL7	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000122550		0.358	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL7	HGNC	protein_coding	OTTHUMT00000326860.3	-	0.00	42	0	G	NM_018846		23180534	+1	tier1	-	no_errors	ENST00000339077	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
KLRD1	3824	genome.wustl.edu	37	12	10466007	10466007	+	Splice_Site	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:10466007A>G	ENST00000381907.4	+	6	517		c.e6-1		KLRD1_ENST00000336164.4_Splice_Site|KLRD1_ENST00000381908.3_Splice_Site_p.Q106R|KLRD1_ENST00000543420.1_Intron|KLRD1_ENST00000543777.1_Splice_Site|KLRD1_ENST00000350274.5_Splice_Site	NM_001114396.1	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						TACTTGAAGCAGGATTTTATG	0.403																																																	0													130.0	135.0	133.0					12																	10466007		2203	4300	6503	SO:0001630	splice_region_variant	0			U30610	CCDS8621.1, CCDS8622.1	12p13	2009-12-03						"""Killer cell lectin-like receptors"", ""CD molecules"""	6378	protein-coding gene	gene with protein product		602894		CD94		7589107	Standard	NM_002262		Approved		uc001qxx.4	Q13241		ENST00000381907.4:c.316-1A>G	12.37:g.10466007A>G			O43321|O43773|Q9UBE3|Q9UEQ0	Splice_Site	SNP	-	e5-2	ENST00000381907.4	37	c.316-2	CCDS8621.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.08|10.08	1.252262|1.252262	0.22880|0.22880	.|.	.|.	ENSG00000134539|ENSG00000134539	ENST00000544747;ENST00000381907;ENST00000336164;ENST00000350274;ENST00000543777|ENST00000381908	.|T	.|0.18016	.|2.24	5.65|5.65	4.51|4.51	0.55191|0.55191	.|.	.|0.144262	.|0.32459	.|N	.|0.006066	.|T	.|0.18173	.|0.0436	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.50943	.|0.94	.|P	.|0.49421	.|0.61	.|T	.|0.01725	.|-1.1287	.|9	.|0.22706	.|T	.|0.39	.|.	7.79|7.79	0.29114|0.29114	0.9087:0.0:0.0913:0.0|0.9087:0.0:0.0913:0.0	.|.	.|106	.|Q13241-2	.|.	.|R	-1|106	.|ENSP00000371333:Q106R	.|ENSP00000371333:Q106R	.|Q	+|+	.|2	.|0	KLRD1|KLRD1	10357274|10357274	0.943000|0.943000	0.32029|0.32029	0.365000|0.365000	0.25901|0.25901	0.081000|0.081000	0.17604|0.17604	2.884000|2.884000	0.48562|0.48562	2.281000|2.281000	0.76405|0.76405	0.528000|0.528000	0.53228|0.53228	.|CAG	KLRD1	-	-	ENSG00000134539		0.403	KLRD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLRD1	HGNC	protein_coding	OTTHUMT00000399684.2	-	0.00	45	0	A	NM_002262	Intron	10466007	+1	tier1	-	no_errors	ENST00000336164	ensembl	human	known	74_37	splice_site	30.16	44	19	SNP	0.324	G
KMT2B	9757	genome.wustl.edu	37	19	36210763	36210764	+	Frame_Shift_Ins	INS	-	-	CC	rs532152042|rs60207923	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:36210763_36210764insCC	ENST00000222270.7	+	3	514_515	c.514_515insCC	c.(514-516)accfs	p.T172fs	KMT2B_ENST00000341701.1_Frame_Shift_Ins_p.T172fs|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Frame_Shift_Ins_p.T172fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	172			T -> I (in dbSNP:rs60207923).		chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TGTGGCTCCTACCCCCCCAAAG	0.634																																																	0																																										SO:0001589	frameshift_variant	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.519_520dupCC	19.37:g.36210768_36210769dupCC	ENSP00000222270:p.Thr172fs		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Ins	INS	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.K175fs	ENST00000222270.7	37	c.514_515	CCDS46055.1	19																																																																																			KMT2B	-	pirsf_MeTrfase_trithorax	ENSG00000272333		0.634	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding			0.00	55	0	-	NM_014727		36210764	+1	tier1		no_errors	ENST00000222270	ensembl	human	known	74_37	frame_shift_ins	31.48	37	17	INS	0.976:0.976	CC
KMT2B	9757	genome.wustl.edu	37	19	36210771	36210771	+	Silent	SNP	A	A	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:36210771A>C	ENST00000222270.7	+	3	522	c.522A>C	c.(520-522)ccA>ccC	p.P174P	KMT2B_ENST00000341701.1_Silent_p.P174P|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.P174P	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	174					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTACCCCCCCAAAGACCCCTG	0.642																																																	0													42.0	50.0	47.0					19																	36210771		1954	4135	6089	SO:0001819	synonymous_variant	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.522A>C	19.37:g.36210771A>C			O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.P174	ENST00000222270.7	37	c.522	CCDS46055.1	19																																																																																			KMT2B	-	pirsf_MeTrfase_trithorax	ENSG00000272333		0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding			0.00	57	0	A	NM_014727		36210771	+1			no_errors	ENST00000222270	ensembl	human	known	74_37	silent	7.02	53	4	SNP	1.000	C
KMT2B	9757	genome.wustl.edu	37	19	36229256	36229256	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:36229256G>A	ENST00000222270.7	+	37	7946	c.7946G>A	c.(7945-7947)cGc>cAc	p.R2649H	IGFLR1_ENST00000587101.1_5'Flank|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R2649H	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2649	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R2651H(1)									AATGCCGCCCGCTTCATCAAC	0.577																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											78.0	86.0	84.0					19																	36229256		2199	4299	6498	SO:0001583	missense	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7946G>A	19.37:g.36229256G>A	ENSP00000222270:p.Arg2649His		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R2649H	ENST00000222270.7	37	c.7946	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709254	0.68615	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.85556	-2.0;-2.0	5.42	5.42	0.78866	SET domain (3);	0.000000	0.45126	D	0.000397	D	0.93890	0.8045	M	0.90145	3.09	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.94772	0.7946	10	0.72032	D	0.01	.	17.9826	0.89146	0.0:0.0:1.0:0.0	.	2649	Q9UMN6	MLL4_HUMAN	H	2649	ENSP00000222270:R2649H;ENSP00000398837:R2649H	ENSP00000222270:R2649H	R	+	2	0	AD000671.1	40921096	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	9.869000	0.99810	2.551000	0.86045	0.462000	0.41574	CGC	KMT2B	-	pirsf_MeTrfase_trithorax,pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	ENSG00000272333		0.577	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2B	Uniprot_gn	protein_coding		-	0.00	24	0	G	NM_014727		36229256	+1	tier1	-	no_errors	ENST00000222270	ensembl	human	known	74_37	missense	46.15	7	6	SNP	1.000	A
KPNA3	3839	genome.wustl.edu	37	13	50279819	50279819	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:50279819delT	ENST00000261667.3	-	15	1724	c.1310delA	c.(1309-1311)aacfs	p.N437fs		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	437					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TATCAGAATGTTTTTTAGACC	0.398																																																	0													215.0	197.0	203.0					13																	50279819		2203	4300	6503	SO:0001589	frameshift_variant	0			D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.1310delA	13.37:g.50279819delT	ENSP00000261667:p.Asn437fs		O00191|O43195|Q5JVM9|Q96AA7	Frame_Shift_Del	DEL	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.N437fs	ENST00000261667.3	37	c.1310	CCDS9421.1	13																																																																																			KPNA3	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	ENSG00000102753		0.398	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA3	HGNC	protein_coding	OTTHUMT00000044939.2		0.00	61	0	T	NM_002267		50279819	-1	tier1		no_errors	ENST00000261667	ensembl	human	known	74_37	frame_shift_del	44.44	65	52	DEL	1.000	-
KRI1	65095	genome.wustl.edu	37	19	10668530	10668530	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:10668530C>T	ENST00000312962.6	-	15	1438	c.1419G>A	c.(1417-1419)aaG>aaA	p.K473K	KRI1_ENST00000361821.5_Silent_p.K469K	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	467						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGGCCTCGCGCTTTTTCTTCC	0.682																																																	0													30.0	33.0	32.0					19																	10668530		2203	4299	6502	SO:0001819	synonymous_variant	0				CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1419G>A	19.37:g.10668530C>T			Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	pfam_KRR1-interact_protein_1	p.K473	ENST00000312962.6	37	c.1419	CCDS12242.1	19																																																																																			KRI1	-	pfam_KRR1-interact_protein_1	ENSG00000129347		0.682	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KRI1	HGNC	protein_coding	OTTHUMT00000317705.1	-	0.00	42	0	C	NM_023008		10668530	-1	tier1	-	no_errors	ENST00000312962	ensembl	human	known	74_37	silent	24.39	31	10	SNP	0.003	T
KRT10	3858	genome.wustl.edu	37	17	38976864	38976864	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:38976864G>A	ENST00000269576.5	-	3	775	c.766C>T	c.(766-768)Cgt>Tgt	p.R256C	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	256	Coil 1B.|Gly-rich.|Rod.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				AGCACCCTACGCAGGCCGTTG	0.507																																																	0													105.0	101.0	102.0					17																	38976864		2203	4300	6503	SO:0001583	missense	0			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.766C>T	17.37:g.38976864G>A	ENSP00000269576:p.Arg256Cys		Q14664|Q8N175	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.R256C	ENST00000269576.5	37	c.766	CCDS11377.1	17	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409829	0.83340	.	.	ENSG00000186395	ENST00000269576	D	0.92545	-3.06	5.84	5.84	0.93424	Filament (1);	0.000000	0.36740	N	0.002424	D	0.96562	0.8878	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96510	0.9378	10	0.87932	D	0	.	20.1533	0.98095	0.0:0.0:1.0:0.0	.	256	P13645	K1C10_HUMAN	C	256	ENSP00000269576:R256C	ENSP00000269576:R256C	R	-	1	0	KRT10	36230390	0.997000	0.39634	1.000000	0.80357	0.977000	0.68977	5.121000	0.64691	2.758000	0.94735	0.655000	0.94253	CGT	KRT10	-	pfam_IF,prints_Keratin_I	ENSG00000186395		0.507	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	HGNC	protein_coding	OTTHUMT00000257875.1	-	0.00	74	0	G	NM_000421		38976864	-1	tier1	-	no_errors	ENST00000269576	ensembl	human	known	74_37	missense	7.78	83	7	SNP	1.000	A
KRT33A	3883	genome.wustl.edu	37	17	39506827	39506827	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:39506827C>T	ENST00000007735.3	-	1	237	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	65	Coil 1A.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCCAGGCGGTCGTTCAGGAAC	0.622																																																	0													100.0	102.0	101.0					17																	39506827		2203	4300	6503	SO:0001583	missense	0			Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.193G>A	17.37:g.39506827C>T	ENSP00000007735:p.Asp65Asn		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.D65N	ENST00000007735.3	37	c.193	CCDS11388.1	17	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241862	0.79912	.	.	ENSG00000006059	ENST00000007735	D	0.91945	-2.94	5.22	3.24	0.37175	Filament (1);	0.164354	0.43416	N	0.000577	D	0.90191	0.6934	L	0.46741	1.465	0.38101	D	0.93727	B	0.28258	0.205	B	0.38458	0.274	D	0.89158	0.3528	10	0.62326	D	0.03	.	11.6259	0.51145	0.0:0.8556:0.0:0.1444	.	65	O76009	KT33A_HUMAN	N	65	ENSP00000007735:D65N	ENSP00000007735:D65N	D	-	1	0	KRT33A	36760353	1.000000	0.71417	0.980000	0.43619	0.982000	0.71751	3.932000	0.56537	0.911000	0.36747	-0.133000	0.14855	GAC	KRT33A	-	pfam_IF	ENSG00000006059		0.622	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT33A	HGNC	protein_coding	OTTHUMT00000257295.1	-	0.00	147	0	C	NM_004138		39506827	-1	tier1	-	no_errors	ENST00000007735	ensembl	human	known	74_37	missense	36.23	87	50	SNP	1.000	T
KRT6B	3854	genome.wustl.edu	37	12	52841135	52841135	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:52841135C>A	ENST00000252252.3	-	9	1581	c.1534G>T	c.(1534-1536)Gga>Tga	p.G512*		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	512	Tail.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TAGCTGCTTCCTCCACCCAGG	0.642																																																	0													55.0	56.0	56.0					12																	52841135		2203	4300	6503	SO:0001587	stop_gained	0			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1534G>T	12.37:g.52841135C>A	ENSP00000252252:p.Gly512*		P48669	Nonsense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.G512*	ENST00000252252.3	37	c.1534	CCDS8828.1	12	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536325	0.85812	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	.	.	.	3.27	3.27	0.37495	.	0.000000	0.48767	D	0.000171	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	10.0198	0.42035	0.0:0.8939:0.0:0.1061	.	.	.	.	X	512;472	.	ENSP00000252252:G512X	G	-	1	0	KRT6B	51127402	0.022000	0.18835	0.219000	0.23793	0.653000	0.38743	1.681000	0.37618	1.846000	0.53633	0.313000	0.20887	GGA	KRT6B	-	NULL	ENSG00000185479		0.642	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	-	0.00	95	0	C	NM_005555		52841135	-1	tier1	-	no_errors	ENST00000252252	ensembl	human	known	74_37	nonsense	9.21	69	7	SNP	0.979	A
KRT74	121391	genome.wustl.edu	37	12	52967393	52967393	+	Missense_Mutation	SNP	G	G	A	rs201357829		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:52967393G>A	ENST00000305620.2	-	1	216	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	KRT74_ENST00000549343.1_Missense_Mutation_p.R57W	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	57	Gly-rich.|Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GAAATACGCCGATTCCCTCCA	0.627																																																	0													53.0	58.0	57.0					12																	52967393		2203	4300	6503	SO:0001583	missense	0			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.169C>T	12.37:g.52967393G>A	ENSP00000307240:p.Arg57Trp		B5MD61|Q86Y45	Missense_Mutation	SNP	pfam_IF,prints_Keratin_II	p.R57W	ENST00000305620.2	37	c.169	CCDS8832.1	12	.	.	.	.	.	.	.	.	.	.	G	3.980	-0.006524	0.07773	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	T;T	0.20738	2.05;2.05	4.41	2.54	0.30619	.	0.885835	0.09189	N	0.836238	T	0.23014	0.0556	M	0.72576	2.205	0.09310	N	1	B	0.19331	0.035	B	0.15870	0.014	T	0.34054	-0.9844	10	0.87932	D	0	.	4.2146	0.10528	0.2288:0.0:0.4881:0.283	.	57	Q7RTS7	K2C74_HUMAN	W	57	ENSP00000447447:R57W;ENSP00000307240:R57W	ENSP00000307240:R57W	R	-	1	2	KRT74	51253660	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-0.304000	0.08199	0.550000	0.28991	-0.314000	0.08810	CGG	KRT74	-	NULL	ENSG00000170484		0.627	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT74	HGNC	protein_coding	OTTHUMT00000405324.1		0.00	56	0	G	NM_175053		52967393	-1			no_errors	ENST00000305620	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	A
KRT9	3857	genome.wustl.edu	37	17	39728172	39728172	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:39728172C>T	ENST00000246662.4	-	1	138	c.73G>A	c.(73-75)Ggg>Agg	p.G25R	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	25	Head.|Poly-Gly.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ATGCTGCCCCCGCTGCCCAGG	0.652																																																	0																																										SO:0001583	missense	0				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.73G>A	17.37:g.39728172C>T	ENSP00000246662:p.Gly25Arg		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.G25R	ENST00000246662.4	37	c.73	CCDS32654.1	17	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266719	0.23136	.	.	ENSG00000171403	ENST00000246662	T	0.80738	-1.41	4.65	2.57	0.30868	.	.	.	.	.	T	0.71913	0.3396	L	0.49126	1.545	0.24063	N	0.996004	B	0.25486	0.127	B	0.17098	0.017	T	0.64449	-0.6405	9	0.87932	D	0	.	5.1885	0.15197	0.2008:0.6143:0.0:0.185	.	25	P35527	K1C9_HUMAN	R	25	ENSP00000246662:G25R	ENSP00000246662:G25R	G	-	1	0	KRT9	36981698	0.000000	0.05858	0.603000	0.28903	0.029000	0.11900	-0.596000	0.05720	0.907000	0.36646	0.591000	0.81541	GGG	KRT9	-	NULL	ENSG00000171403		0.652	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT9	HGNC	protein_coding	OTTHUMT00000257707.1		0.00	12	0	C	NM_000226		39728172	-1			no_errors	ENST00000246662	ensembl	human	known	74_37	missense	20.00	12	3	SNP	0.052	T
KRTAP10-2	386679	genome.wustl.edu	37	21	45970364	45970364	+	3'UTR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:45970364C>T	ENST00000391621.1	-	0	1024				TSPEAR_ENST00000323084.4_Intron|KRTAP10-2_ENST00000498210.1_5'UTR|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2							keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						TGGTCTGCAGCCAGGAAGCAC	0.697																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.*210G>A	21.37:g.45970364C>T			Q70LJ5	RNA	SNP	-	NULL	ENST00000391621.1	37	NULL	CCDS42955.1	21																																																																																			KRTAP10-2	-	-	ENSG00000205445		0.697	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-2	HGNC	protein_coding	OTTHUMT00000128027.1	-	0.00	79	0	C			45970364	-1	tier1	-	no_errors	ENST00000498210	ensembl	human	known	74_37	rna	33.33	46	23	SNP	0.003	T
KRTAP16-1	100505753	genome.wustl.edu	37	17	39464111	39464111	+	Frame_Shift_Del	DEL	T	T	-	rs75673802		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:39464111delT	ENST00000391352.1	-	1	1394	c.1395delA	c.(1393-1395)aaafs	p.K465fs		NM_001146182.1	NP_001139654.1	A8MUX0	KR161_HUMAN	keratin associated protein 16-1	465						keratin filament (GO:0045095)				haematopoietic_and_lymphoid_tissue(1)	1						TGGAAGTGGATTTTTTGCAAT	0.562																																																	0																																										SO:0001589	frameshift_variant	0			AP001708	CCDS56032.1	17q21.2	2012-07-04			ENSG00000212657	ENSG00000212657		"""Keratin associated proteins"""	18916	protein-coding gene	gene with protein product							Standard	NM_001146182		Approved	KAP16.1	uc021txi.1	A8MUX0	OTTHUMG00000133640	ENST00000391352.1:c.1395delA	17.37:g.39464111delT	ENSP00000375147:p.Lys465fs			Frame_Shift_Del	DEL	NULL	p.K465fs	ENST00000391352.1	37	c.1395	CCDS56032.1	17																																																																																			KRTAP16-1	-	NULL	ENSG00000212657		0.562	KRTAP16-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP16-1	HGNC	protein_coding	OTTHUMT00000257785.1		0.00	36	0	T	NM_001146182		39464111	-1	tier1		no_errors	ENST00000391352	ensembl	human	known	74_37	frame_shift_del	40.00	18	12	DEL	0.028	-
KRTAP22-2	100288287	genome.wustl.edu	37	21	31962612	31962612	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:31962612A>G	ENST00000382830.2	-	1	104	c.82T>C	c.(82-84)Tgc>Cgc	p.C28R	KRTAP6-3_ENST00000391624.1_5'Flank	NM_001164434.1	NP_001157906.1	Q3LI68	KR222_HUMAN	keratin associated protein 22-2	28						intermediate filament (GO:0005882)											GGAAAGTTGCAGGCATATCCA	0.428																																																	0													153.0	133.0	139.0					21																	31962612		692	1591	2283	SO:0001583	missense	0			AB096950	CCDS46641.1	21q22.11	2009-11-23			ENSG00000206106	ENSG00000206106		"""Keratin associated proteins"""	37091	protein-coding gene	gene with protein product							Standard	NM_001164434		Approved	KAP22.2	uc021wih.1	Q3LI68	OTTHUMG00000065630	ENST00000382830.2:c.82T>C	21.37:g.31962612A>G	ENSP00000372281:p.Cys28Arg			Missense_Mutation	SNP	NULL	p.C28R	ENST00000382830.2	37	c.82	CCDS46641.1	21	.	.	.	.	.	.	.	.	.	.	A	9.236	1.037017	0.19669	.	.	ENSG00000206106	ENST00000382830	.	.	.	4.31	-1.32	0.09201	.	0.456886	0.15966	U	0.236027	T	0.27063	0.0663	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28170	-1.0052	6	0.87932	D	0	.	0.5579	0.00674	0.4525:0.1767:0.1998:0.171	.	.	.	.	R	28	.	ENSP00000372281:C28R	C	-	1	0	KRTAP22-2	30884483	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.084000	0.11268	-0.008000	0.14320	-0.464000	0.05259	TGC	KRTAP22-2	-	NULL	ENSG00000206106		0.428	KRTAP22-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP22-2	HGNC	protein_coding	OTTHUMT00000140633.2	-	0.00	42	0	A	XM_002343740		31962612	-1	tier1	-	no_errors	ENST00000382830	ensembl	human	known	74_37	missense	35.59	38	21	SNP	0.000	G
KRTAP4-3	85290	genome.wustl.edu	37	17	39324124	39324124	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:39324124G>A	ENST00000391356.2	-	1	300	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	101	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGCTGGGGCGGCAGCAGGTG	0.622																																																	0													11.0	15.0	14.0					17																	39324124		2069	4223	6292	SO:0001583	missense	0			AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"""Keratin associated proteins"""	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.301C>T	17.37:g.39324124G>A	ENSP00000375151:p.Arg101Cys			Missense_Mutation	SNP	pfam_Keratin-assoc	p.R101C	ENST00000391356.2	37	c.301	CCDS42331.1	17	.	.	.	.	.	.	.	.	.	.	.	12.54	1.968747	0.34754	.	.	ENSG00000196156	ENST00000391356	T	0.01455	4.87	4.77	0.261	0.15592	.	0.000000	0.29602	U	0.011693	T	0.02083	0.0065	M	0.62154	1.92	0.09310	N	0.999996	B	0.27140	0.169	B	0.20955	0.032	T	0.40213	-0.9575	10	0.56958	D	0.05	.	4.8401	0.13485	0.169:0.0:0.5342:0.2968	.	101	Q9BYR4	KRA43_HUMAN	C	101	ENSP00000375151:R101C	ENSP00000375151:R101C	R	-	1	0	KRTAP4-3	36577650	0.000000	0.05858	0.122000	0.21767	0.316000	0.28119	-0.826000	0.04429	-0.099000	0.12263	-0.192000	0.12808	CGC	KRTAP4-3	-	NULL	ENSG00000196156		0.622	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-3	HGNC	protein_coding	OTTHUMT00000257784.1	-	0.00	234	0	G			39324124	-1	tier1	-	no_errors	ENST00000391356	ensembl	human	known	74_37	missense	39.15	129	83	SNP	0.012	A
KSR2	283455	genome.wustl.edu	37	12	117964887	117964887	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:117964887G>T	ENST00000339824.5	-	13	2567	c.1840C>A	c.(1840-1842)Cca>Aca	p.P614T	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.P585T|KSR2_ENST00000302438.5_Missense_Mutation_p.P311T			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	614					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCGACGTTGGCTCCACTTCA	0.453																																																	0													165.0	163.0	163.0					12																	117964887		1947	4139	6086	SO:0001583	missense	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1840C>A	12.37:g.117964887G>T	ENSP00000339952:p.Pro614Thr		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.P614T	ENST00000339824.5	37	c.1840		12	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495631	0.64186	.	.	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;D	0.85773	-1.17;-1.17;-2.03	5.6	5.6	0.85130	.	0.289069	0.39544	N	0.001334	D	0.83385	0.5243	L	0.56769	1.78	0.58432	D	0.999997	D	0.54772	0.968	P	0.45310	0.476	T	0.80924	-0.1165	10	0.02654	T	1	.	19.6224	0.95663	0.0:0.0:1.0:0.0	.	614	Q6VAB6	KSR2_HUMAN	T	585;614;311;286	ENSP00000389715:P585T;ENSP00000339952:P614T;ENSP00000305466:P311T	ENSP00000305466:P311T	P	-	1	0	KSR2	116449270	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	8.962000	0.93254	2.630000	0.89119	0.655000	0.94253	CCA	KSR2	-	NULL	ENSG00000171435		0.453	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	-	0.00	51	0	G	NM_173598		117964887	-1	tier1	-	no_errors	ENST00000339824	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
L2HGDH	79944	genome.wustl.edu	37	14	50735881	50735881	+	Splice_Site	SNP	C	C	T	rs144701373		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:50735881C>T	ENST00000267436.4	-	7	1303	c.906G>A	c.(904-906)ccG>ccA	p.P302P	L2HGDH_ENST00000421284.3_Splice_Site_p.P302P|L2HGDH_ENST00000261699.4_Splice_Site_p.P302P			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	302			P -> L (in L2HGA). {ECO:0000269|PubMed:15385440, ECO:0000269|PubMed:16134148}.		2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2-hydroxyglutarate dehydrogenase activity (GO:0047545)			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					CATTACCTACCGGATAAATAT	0.388																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	63.0	64.0	64.0		906	3.8	1.0	14	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice	L2HGDH	NM_024884.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		302/464	50735881	2,13004	2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS9698.1	14q22.1	2006-04-28	2005-05-25	2005-05-25	ENSG00000087299	ENSG00000087299	1.1.99.2		20499	protein-coding gene	gene with protein product	"""2-hydroxyglutarate dehydrogenase"""	609584	"""chromosome 14 open reading frame 160"""	C14orf160		16005139	Standard	NM_024884		Approved	FLJ12618	uc001wxu.3	Q9H9P8	OTTHUMG00000140289	ENST00000267436.4:c.906+1G>A	14.37:g.50735881C>T			Q9BRR1	Silent	SNP	pfam_FAD-dep_OxRdtase	p.P302	ENST00000267436.4	37	c.906	CCDS9698.1	14																																																																																			L2HGDH	-	pfam_FAD-dep_OxRdtase	ENSG00000087299		0.388	L2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L2HGDH	HGNC	protein_coding	OTTHUMT00000276870.2	-	0.00	36	0	C	NM_024884	Silent	50735881	-1	tier1	rs144701373	no_errors	ENST00000267436	ensembl	human	known	74_37	silent	35.29	22	12	SNP	1.000	T
LACE1	246269	genome.wustl.edu	37	6	108840979	108840979	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:108840979G>T	ENST00000368977.4	+	12	1469	c.1283G>T	c.(1282-1284)aGc>aTc	p.S428I		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	428						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TTGGAGCAAAGCAGAATACTG	0.373																																																	0													132.0	123.0	126.0					6																	108840979		2203	4300	6503	SO:0001583	missense	0			AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.1283G>T	6.37:g.108840979G>T	ENSP00000357973:p.Ser428Ile		Q8N6A3	Missense_Mutation	SNP	pfam_ATPase_AFG1-like,superfamily_P-loop_NTPase	p.S428I	ENST00000368977.4	37	c.1283	CCDS5067.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.50|13.50	2.256418|2.256418	0.39896|0.39896	.|.	.|.	ENSG00000135537|ENSG00000135537	ENST00000421954|ENST00000368977	.|.	.|.	.|.	5.82|5.82	3.1|3.1	0.35709|0.35709	.|.	.|0.247105	.|0.53938	.|D	.|0.000056	T|T	0.37571|0.37571	0.1008|0.1008	L|L	0.50333|0.50333	1.59|1.59	0.47778|0.47778	D|D	0.999518|0.999518	.|B	.|0.16603	.|0.018	.|B	.|0.19946	.|0.027	T|T	0.21793|0.21793	-1.0235|-1.0235	5|9	.|0.39692	.|T	.|0.17	-3.1862|-3.1862	10.6504|10.6504	0.45645|0.45645	0.2086:0.0:0.7914:0.0|0.2086:0.0:0.7914:0.0	.|.	.|428	.|Q8WV93	.|LACE1_HUMAN	S|I	296|428	.|.	.|ENSP00000357973:S428I	A|S	+|+	1|2	0|0	LACE1|LACE1	108947672|108947672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.191000|1.191000	0.32138|0.32138	0.384000|0.384000	0.24942|0.24942	0.561000|0.561000	0.74099|0.74099	GCA|AGC	LACE1	-	NULL	ENSG00000135537		0.373	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACE1	HGNC	protein_coding	OTTHUMT00000041719.4		0.00	39	0	G	NM_145315		108840979	+1			no_errors	ENST00000368977	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
LAD1	3898	genome.wustl.edu	37	1	201355590	201355590	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:201355590delC	ENST00000391967.2	-	3	1200	c.899delG	c.(898-900)ggafs	p.G300fs	LAD1_ENST00000488842.1_5'Flank|LAD1_ENST00000367313.3_Frame_Shift_Del_p.G314fs	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	300						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GGCTGGGCTTCCCCCAGAGGC	0.662																																																	0													36.0	40.0	38.0					1																	201355590		2203	4300	6503	SO:0001589	frameshift_variant	0			U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.899delG	1.37:g.201355590delC	ENSP00000375829:p.Gly300fs		O95614|Q96GD8	Frame_Shift_Del	DEL	pirsf_Ladinin_1	p.G314fs	ENST00000391967.2	37	c.941	CCDS1410.1	1																																																																																			LAD1	-	pirsf_Ladinin_1	ENSG00000159166		0.662	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAD1	HGNC	protein_coding	OTTHUMT00000086946.1		0.00	114	0	C	NM_005558		201355590	-1	tier1		no_errors	ENST00000367313	ensembl	human	known	74_37	frame_shift_del	24.22	97	31	DEL	0.000	-
LAMA1	284217	genome.wustl.edu	37	18	6948545	6948545	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:6948545C>A	ENST00000389658.3	-	60	8660	c.8567G>T	c.(8566-8568)aGc>aTc	p.S2856I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2856	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GGCAGGGATGCTGTGGGTGAT	0.522																																																	0													108.0	79.0	89.0					18																	6948545		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8567G>T	18.37:g.6948545C>A	ENSP00000374309:p.Ser2856Ile			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.S2856I	ENST00000389658.3	37	c.8567	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696692	0.88830	.	.	ENSG00000101680	ENST00000389658	T	0.70986	-0.53	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.180860	0.47455	D	0.000237	D	0.86719	0.6000	M	0.86178	2.8	0.51233	D	0.999914	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88009	0.2761	10	0.87932	D	0	.	19.8388	0.96673	0.0:1.0:0.0:0.0	.	2856;186	P25391;B3KSD8	LAMA1_HUMAN;.	I	2856	ENSP00000374309:S2856I	ENSP00000374309:S2856I	S	-	2	0	LAMA1	6938545	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.454000	0.73493	2.695000	0.91970	0.561000	0.74099	AGC	LAMA1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000101680		0.522	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0.00	98	0	C	NM_005559		6948545	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	43.81	59	46	SNP	1.000	A
LAMA1	284217	genome.wustl.edu	37	18	6961668	6961668	+	Missense_Mutation	SNP	C	C	T	rs553037503		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:6961668C>T	ENST00000389658.3	-	53	7636	c.7543G>A	c.(7543-7545)Gcc>Acc	p.A2515T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2515	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TTCGTGGTGGCAAATGTTACC	0.562													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18655	0.0		0.0	False		,,,				2504	0.0																0													66.0	55.0	59.0					18																	6961668		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7543G>A	18.37:g.6961668C>T	ENSP00000374309:p.Ala2515Thr			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.A2515T	ENST00000389658.3	37	c.7543	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216614	0.58452	.	.	ENSG00000101680	ENST00000389658	T	0.79247	-1.25	5.75	5.75	0.90469	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.138815	0.47093	D	0.000242	T	0.75525	0.3861	M	0.62723	1.935	0.40739	D	0.982818	B	0.30914	0.3	B	0.32762	0.152	T	0.72697	-0.4215	10	0.30078	T	0.28	.	14.7528	0.69540	0.1444:0.8556:0.0:0.0	.	2515	P25391	LAMA1_HUMAN	T	2515	ENSP00000374309:A2515T	ENSP00000374309:A2515T	A	-	1	0	LAMA1	6951668	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	1.996000	0.40776	2.725000	0.93324	0.655000	0.94253	GCC	LAMA1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000101680		0.562	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0.00	40	0	C	NM_005559		6961668	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	37.14	22	13	SNP	1.000	T
LAMA1	284217	genome.wustl.edu	37	18	7049079	7049079	+	Missense_Mutation	SNP	G	G	A	rs150637419		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:7049079G>A	ENST00000389658.3	-	5	859	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	256	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATACTCACGCGTCTGGTAACA	0.398																																																	0								G	CYS/ARG	0,4406		0,0,2203	98.0	82.0	87.0		766	1.4	1.0	18	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense	LAMA1	NM_005559.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	256/3076	7049079	1,13005	2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.766C>T	18.37:g.7049079G>A	ENSP00000374309:p.Arg256Cys			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R256C	ENST00000389658.3	37	c.766	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737596	0.69304	0.0	1.16E-4	ENSG00000101680	ENST00000389658	T	0.77489	-1.1	5.86	1.42	0.22433	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90130	0.6916	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92048	0.5646	10	0.72032	D	0.01	.	15.1399	0.72601	0.0:0.0:0.247:0.753	.	256	P25391	LAMA1_HUMAN	C	256	ENSP00000374309:R256C	ENSP00000374309:R256C	R	-	1	0	LAMA1	7039079	1.000000	0.71417	0.986000	0.45419	0.933000	0.57130	1.960000	0.40422	0.326000	0.23384	0.563000	0.77884	CGC	LAMA1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000101680		0.398	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0.00	50	0	G	NM_005559		7049079	-1	tier1	rs150637419	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	32.50	27	13	SNP	0.998	A
LAMA5	3911	genome.wustl.edu	37	20	60888272	60888272	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:60888272C>T	ENST00000252999.3	-	65	8893	c.8827G>A	c.(8827-8829)Ggc>Agc	p.G2943S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2943	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGGTAGGAGCCGTCCGTGAGC	0.677																																																	0													14.0	16.0	15.0					20																	60888272		2143	4236	6379	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.8827G>A	20.37:g.60888272C>T	ENSP00000252999:p.Gly2943Ser		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.G2943S	ENST00000252999.3	37	c.8827	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	c	27.9	4.875974	0.91664	.	.	ENSG00000130702	ENST00000252999	T	0.46063	0.88	4.51	4.51	0.55191	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.120176	0.56097	U	0.000040	T	0.56426	0.1984	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	P	0.60949	0.881	T	0.54193	-0.8330	10	0.29301	T	0.29	.	16.8141	0.85729	0.0:1.0:0.0:0.0	.	2943	O15230	LAMA5_HUMAN	S	2943	ENSP00000252999:G2943S	ENSP00000252999:G2943S	G	-	1	0	LAMA5	60321667	0.999000	0.42202	0.946000	0.38457	0.408000	0.30992	4.622000	0.61240	2.049000	0.60858	0.550000	0.68814	GGC	LAMA5	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000130702		0.677	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0.00	45	0	C	NM_005560		60888272	-1	tier1	-	no_errors	ENST00000252999	ensembl	human	known	74_37	missense	27.12	43	16	SNP	1.000	T
LAMA5	3911	genome.wustl.edu	37	20	60895716	60895716	+	Missense_Mutation	SNP	G	G	A	rs112553935		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:60895716G>A	ENST00000252999.3	-	50	6724	c.6658C>T	c.(6658-6660)Cgg>Tgg	p.R2220W		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2220	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGGGGGCTCCGGAGCTGGCTC	0.701																																																	0													13.0	16.0	15.0					20																	60895716		2161	4272	6433	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6658C>T	20.37:g.60895716G>A	ENSP00000252999:p.Arg2220Trp		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.R2220W	ENST00000252999.3	37	c.6658	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	-	20.5	3.992802	0.74703	.	.	ENSG00000130702	ENST00000252999	T	0.10382	2.88	4.23	4.23	0.50019	Laminin I (1);	0.605768	0.17399	N	0.175637	T	0.23370	0.0565	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.64687	0.928	T	0.00819	-1.1553	10	0.37606	T	0.19	.	15.3717	0.74570	0.0:0.0:1.0:0.0	.	2220	O15230	LAMA5_HUMAN	W	2220	ENSP00000252999:R2220W	ENSP00000252999:R2220W	R	-	1	2	LAMA5	60329111	0.996000	0.38824	0.999000	0.59377	0.440000	0.31957	4.326000	0.59241	2.354000	0.79902	0.537000	0.68136	CGG	LAMA5	-	pfam_Laminin_I	ENSG00000130702		0.701	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2		0.00	38	0	G	NM_005560		60895716	-1			no_errors	ENST00000252999	ensembl	human	known	74_37	missense	39.13	14	9	SNP	0.996	A
LAMB2	3913	genome.wustl.edu	37	3	49163123	49163123	+	Intron	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:49163123A>G	ENST00000418109.1	-	19	2653				LAMB2_ENST00000305544.4_Intron|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)						astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGAGGAGAGAGAACAGTAAT	0.522																																																	0																																										SO:0001627	intron_variant	0				CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.2488+56T>C	3.37:g.49163123A>G			Q16321	RNA	SNP	-	NULL	ENST00000418109.1	37	NULL	CCDS2789.1	3																																																																																			LAMB2	-	-	ENSG00000172037		0.522	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB2	HGNC	protein_coding	OTTHUMT00000345939.1	-	0.00	56	0	A	NM_002292		49163123	-1	tier1	-	no_errors	ENST00000464891	ensembl	human	known	74_37	rna	40.00	18	12	SNP	0.007	G
LAMB4	22798	genome.wustl.edu	37	7	107703340	107703340	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:107703340G>A	ENST00000388781.3	-	23	3244	c.3161C>T	c.(3160-3162)cCg>cTg	p.P1054L	LAMB4_ENST00000205386.4_Missense_Mutation_p.P1054L|LAMB4_ENST00000388780.3_Missense_Mutation_p.P1054L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1054	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGTGACATTCGGCAGACAAGG	0.592																																																	0													69.0	58.0	62.0					7																	107703340		2203	4300	6503	SO:0001583	missense	0			AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3161C>T	7.37:g.107703340G>A	ENSP00000373433:p.Pro1054Leu		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.P1054L	ENST00000388781.3	37	c.3161	CCDS34732.1	7	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154086	0.38021	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.62639	1.3;1.3;0.01;0.01	5.12	2.17	0.27698	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.000000	0.51477	D	0.000081	T	0.77928	0.4204	M	0.85197	2.74	0.24640	N	0.993576	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.98	T	0.69187	-0.5211	10	0.87932	D	0	.	10.0742	0.42351	0.231:0.0:0.769:0.0	.	1054;1054	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	L	1054;1054;80;1054	ENSP00000205386:P1054L;ENSP00000373433:P1054L;ENSP00000416562:P80L;ENSP00000373432:P1054L	ENSP00000205386:P1054L	P	-	2	0	LAMB4	107490576	0.736000	0.28164	0.020000	0.16555	0.231000	0.25187	1.861000	0.39438	0.352000	0.24053	0.650000	0.86243	CCG	LAMB4	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000091128		0.592	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	HGNC	protein_coding	OTTHUMT00000337442.1	-	0.00	34	0	G	XM_209857		107703340	-1	tier1	-	no_errors	ENST00000205386	ensembl	human	known	74_37	missense	32.43	25	12	SNP	0.158	A
LAMC2	3918	genome.wustl.edu	37	1	183196723	183196723	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:183196723G>A	ENST00000264144.4	+	10	1424	c.1359G>A	c.(1357-1359)ccG>ccA	p.P453P	LAMC2_ENST00000493293.1_Silent_p.P453P	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	453	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						ACAACGATCCGCACGACCCCC	0.567																																																	0													137.0	129.0	132.0					1																	183196723		2203	4300	6503	SO:0001819	synonymous_variant	0			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1359G>A	1.37:g.183196723G>A			Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin	p.P453	ENST00000264144.4	37	c.1359	CCDS1352.1	1																																																																																			LAMC2	-	smart_EG-like_dom	ENSG00000058085		0.567	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC2	HGNC	protein_coding	OTTHUMT00000086258.1	-	0.00	60	0	G	NM_005562		183196723	+1	tier1	-	no_errors	ENST00000264144	ensembl	human	known	74_37	silent	24.59	46	15	SNP	0.001	A
LAMC3	10319	genome.wustl.edu	37	9	133936593	133936594	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:133936593_133936594insC	ENST00000361069.4	+	13	2463_2464	c.2330_2331insC	c.(2329-2334)tgccccfs	p.CP777fs	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	777	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGTACCCACTGCCCCCCGGGCC	0.698																																																	0																																										SO:0001589	frameshift_variant	0			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2336dupC	9.37:g.133936599_133936599dupC	ENSP00000354360:p.Cys777fs		B1APX9|B1APY0|Q59H72	Frame_Shift_Ins	INS	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.G781fs	ENST00000361069.4	37	c.2330_2331	CCDS6938.1	9																																																																																			LAMC3	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin	ENSG00000050555		0.698	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3		0.00	47	0	-	NM_006059		133936594	+1	tier1		no_errors	ENST00000361069	ensembl	human	known	74_37	frame_shift_ins	29.63	19	8	INS	1.000:1.000	C
LAMC3	10319	genome.wustl.edu	37	9	133946903	133946903	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:133946903G>T	ENST00000361069.4	+	18	3235	c.3102G>T	c.(3100-3102)acG>acT	p.T1034T	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1034	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGACTTTGACGGAGGGGTGGC	0.622																																																	0													96.0	85.0	89.0					9																	133946903		2203	4300	6503	SO:0001819	synonymous_variant	0			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3102G>T	9.37:g.133946903G>T			B1APX9|B1APY0|Q59H72	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.T1034	ENST00000361069.4	37	c.3102	CCDS6938.1	9																																																																																			LAMC3	-	NULL	ENSG00000050555		0.622	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	-	0.00	74	0	G	NM_006059		133946903	+1	tier1	-	no_errors	ENST00000361069	ensembl	human	known	74_37	silent	32.31	44	21	SNP	1.000	T
LARP1	23367	genome.wustl.edu	37	5	154173390	154173390	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:154173390delC	ENST00000336314.4	+	6	692	c.668delC	c.(667-669)gccfs	p.A223fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	300					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)	p.T303fs*19(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGCCCGTGGCCCCCCCCACC	0.642																																																	1	Insertion - Frameshift(1)	large_intestine(1)											87.0	103.0	98.0					5																	154173390		2203	4300	6503	SO:0001589	frameshift_variant	0			AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.668delC	5.37:g.154173390delC	ENSP00000336721:p.Ala223fs		O94836|Q8N4M2|Q8NB73|Q9UFD7	Frame_Shift_Del	DEL	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd	p.T226fs	ENST00000336314.4	37	c.668	CCDS4328.1	5																																																																																			LARP1	-	NULL	ENSG00000155506		0.642	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP1	HGNC	protein_coding	OTTHUMT00000252509.1		0.00	77	0	C	NM_033551		154173390	+1	tier1		no_errors	ENST00000336314	ensembl	human	known	74_37	frame_shift_del	31.15	42	19	DEL	0.999	-
LARP6	55323	genome.wustl.edu	37	15	71125091	71125091	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:71125091G>A	ENST00000299213.8	-	3	846	c.776C>T	c.(775-777)gCc>gTc	p.A259V	RP11-138H8.7_ENST00000592096.1_lincRNA	NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	259	RRM.				regulation of translation (GO:0006417)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CTCCACGATGGCGCACTCCTG	0.557																																																	0													67.0	61.0	63.0					15																	71125091		2199	4297	6496	SO:0001583	missense	0			BC009446	CCDS10236.1, CCDS32281.1	15q23	2012-11-19			ENSG00000166173	ENSG00000166173		"""La ribonucleoprotein domain containing"""	24012	protein-coding gene	gene with protein product		611300				12477932	Standard	NM_018357		Approved	acheron, FLJ11196	uc002ass.3	Q9BRS8	OTTHUMG00000172179	ENST00000299213.8:c.776C>T	15.37:g.71125091G>A	ENSP00000299213:p.Ala259Val		Q5XKE4|Q8N3N2|Q9NUR0	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd,prints_Lupus_La	p.A259V	ENST00000299213.8	37	c.776	CCDS32281.1	15	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772859	0.90108	.	.	ENSG00000166173	ENST00000299213	T	0.68181	-0.31	4.77	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80625	-0.1299	10	0.44086	T	0.13	-27.7599	15.2903	0.73862	0.0:0.0:1.0:0.0	.	259	Q9BRS8	LARP6_HUMAN	V	259	ENSP00000299213:A259V	ENSP00000299213:A259V	A	-	2	0	LARP6	68912145	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.315000	0.96313	2.208000	0.71279	0.555000	0.69702	GCC	LARP6	-	NULL	ENSG00000166173		0.557	LARP6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP6	HGNC	protein_coding	OTTHUMT00000417197.2	-	0.00	52	0	G	NM_018357		71125091	-1	tier1	-	no_errors	ENST00000299213	ensembl	human	known	74_37	missense	26.47	25	9	SNP	1.000	A
LATS1	9113	genome.wustl.edu	37	6	149983001	149983001	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:149983001T>A	ENST00000543571.1	-	8	3804	c.3257A>T	c.(3256-3258)gAc>gTc	p.D1086V	LATS1_ENST00000253339.5_Missense_Mutation_p.D1086V	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GTAGCCATTGTCATCAAAAAA	0.373																																																	0													121.0	119.0	120.0					6																	149983001		2203	4300	6503	SO:0001583	missense	0			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.3257A>T	6.37:g.149983001T>A	ENSP00000437550:p.Asp1086Val			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.D1086V	ENST00000543571.1	37	c.3257	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389018	0.61956	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.58652	0.32;0.32	5.79	5.79	0.91817	AGC-kinase, C-terminal (1);	0.000000	0.56097	D	0.000034	T	0.52419	0.1733	M	0.66939	2.045	0.80722	D	1	P	0.36909	0.573	B	0.43536	0.423	T	0.54483	-0.8287	9	.	.	.	.	16.1377	0.81497	0.0:0.0:0.0:1.0	.	1086	O95835	LATS1_HUMAN	V	1086	ENSP00000437550:D1086V;ENSP00000253339:D1086V	.	D	-	2	0	LATS1	150024694	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.917000	0.69989	2.217000	0.71921	0.482000	0.46254	GAC	LATS1	-	NULL	ENSG00000131023		0.373	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	-	0.00	108	0	T	NM_004690		149983001	-1	tier1	-	no_errors	ENST00000253339	ensembl	human	known	74_37	missense	35.00	78	42	SNP	1.000	A
LBH	81606	genome.wustl.edu	37	2	30480657	30480658	+	3'UTR	DEL	TT	TT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:30480657_30480658delTT	ENST00000395323.3	+	0	696_697				LBH_ENST00000404397.1_Intron|LBH_ENST00000467242.1_3'UTR	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development						multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					ttttcttgcctttttttttttt	0.465																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"""limb bud and heart development homolog (mouse)"""			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.*171TT>-	2.37:g.30480667_30480668delTT			B2RBC2|Q9H0Q1	RNA	DEL	-	NULL	ENST00000395323.3	37	NULL	CCDS33173.1	2																																																																																			LBH	-	-	ENSG00000213626		0.465	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LBH	HGNC	protein_coding	OTTHUMT00000325091.1		0.00	39	0	TT	NM_030915		30480658	+1	tier1		no_errors	ENST00000467242	ensembl	human	known	74_37	rna	29.03	22	9	DEL	0.930:0.934	-
LBR	3930	genome.wustl.edu	37	1	225592358	225592358	+	Silent	SNP	G	G	T	rs373561199		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:225592358G>T	ENST00000338179.2	-	12	1659	c.1534C>A	c.(1534-1536)Cgg>Agg	p.R512R	LBR_ENST00000272163.4_Silent_p.R512R	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	512					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GGATTTTTCCGGAATGCATTT	0.289																																																	0													69.0	71.0	70.0					1																	225592358		2202	4299	6501	SO:0001819	synonymous_variant	0			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1534C>A	1.37:g.225592358G>T			B2R5P3|Q14740|Q53GU7|Q59FE6	Silent	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor	p.R512	ENST00000338179.2	37	c.1534	CCDS1545.1	1																																																																																			LBR	-	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295	ENSG00000143815		0.289	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LBR	HGNC	protein_coding	OTTHUMT00000091398.1	-	0.00	42	0	G	NM_002296		225592358	-1	tier1	-	no_errors	ENST00000272163	ensembl	human	known	74_37	silent	6.25	60	4	SNP	1.000	T
LCN2	3934	genome.wustl.edu	37	9	130914272	130914272	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:130914272delA	ENST00000373017.1	+	5	680	c.443delA	c.(442-444)caafs	p.Q148fs	LCN2_ENST00000372998.1_Frame_Shift_Del_p.Q150fs|LCN2_ENST00000540948.1_Frame_Shift_Del_p.Q148fs|LCN2_ENST00000373013.2_Frame_Shift_Del_p.Q150fs|LCN2_ENST00000277480.2_Frame_Shift_Del_p.Q148fs|LCN2_ENST00000470902.1_3'UTR			P80188	NGAL_HUMAN	lipocalin 2	148					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|small molecule binding (GO:0036094)|transporter activity (GO:0005215)			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						AAAGTTTCTCAAAACAGGGAG	0.552																																																	0													177.0	158.0	165.0					9																	130914272		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS6892.1	9q34	2011-10-24	2007-12-18		ENSG00000148346	ENSG00000148346		"""Lipocalins"""	6526	protein-coding gene	gene with protein product	"""oncogene 24p3"", ""neutrophil gelatinase-associated lipocalin"", ""siderocalin"""	600181	"""lipocalin 2 (oncogene 24p3)"""			7683678	Standard	NM_005564		Approved	NGAL, 24p3	uc004bto.1	P80188	OTTHUMG00000020734	ENST00000373017.1:c.443delA	9.37:g.130914272delA	ENSP00000362108:p.Gln148fs		A6NII8|B4DWV4|B7ZAA2|P30150|Q5SYV9|Q5SYW0|Q6FGL5|Q92683	Frame_Shift_Del	DEL	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln	p.N151fs	ENST00000373017.1	37	c.449	CCDS6892.1	9																																																																																			LCN2	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000148346		0.552	LCN2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LCN2	HGNC	protein_coding	OTTHUMT00000054375.1		0.00	23	0	A	NM_005564		130914272	+1	tier1		no_errors	ENST00000372998	ensembl	human	known	74_37	frame_shift_del	35.48	20	11	DEL	0.000	-
LCNL1	401562	genome.wustl.edu	37	9	139879317	139879317	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139879317G>T	ENST00000408973.2	+	3	943	c.349G>T	c.(349-351)Ggg>Tgg	p.G117W	LCNL1_ENST00000432827.1_Intron	NM_207510.3	NP_997393.3	Q6ZST4	LCNL1_HUMAN	lipocalin-like 1	117																	CCCCCGCTTCGGGTCTGGGAT	0.692																																																	0													12.0	15.0	14.0					9																	139879317		1937	4080	6017	SO:0001583	missense	0				CCDS43908.1	9q34.3	2014-01-22			ENSG00000214402	ENSG00000214402		"""Lipocalins"""	34436	protein-coding gene	gene with protein product							Standard	NM_207510		Approved	FLJ45224	uc004ckh.1	Q6ZST4	OTTHUMG00000159546	ENST00000408973.2:c.349G>T	9.37:g.139879317G>T	ENSP00000386162:p.Gly117Trp			Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	p.G117W	ENST00000408973.2	37	c.349	CCDS43908.1	9	.	.	.	.	.	.	.	.	.	.	g	10.50	1.368878	0.24771	.	.	ENSG00000214402	ENST00000408973	T	0.11385	2.78	1.48	-2.96	0.05547	Calycin-like (1);	.	.	.	.	T	0.04588	0.0125	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.33777	-0.9855	9	0.46703	T	0.11	.	4.5707	0.12208	0.0:0.3171:0.4221:0.2609	.	117	Q6ZST4	LCNL1_HUMAN	W	117	ENSP00000386162:G117W	ENSP00000386162:G117W	G	+	1	0	LCNL1	138999138	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-3.228000	0.00549	-2.220000	0.00728	0.187000	0.17357	GGG	LCNL1	-	superfamily_Calycin-like	ENSG00000214402		0.692	LCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCNL1	HGNC	protein_coding	OTTHUMT00000356128.1	-	0.00	141	0	G	NM_207510		139879317	+1	tier1	-	no_errors	ENST00000408973	ensembl	human	known	74_37	missense	8.33	99	9	SNP	0.000	T
LEPROTL1	23484	genome.wustl.edu	37	8	29961841	29961841	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:29961841delT	ENST00000321250.8	+	3	233	c.118delT	c.(118-120)tttfs	p.F41fs	LEPROTL1_ENST00000442880.2_Frame_Shift_Del_p.F41fs|LEPROTL1_ENST00000523116.1_Frame_Shift_Del_p.F41fs|LEPROTL1_ENST00000518001.1_5'UTR|LEPROTL1_ENST00000518192.1_Frame_Shift_Del_p.F64fs	NM_015344.2	NP_056159.2	O95214	LERL1_HUMAN	leptin receptor overlapping transcript-like 1	41						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)	5				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CTTTGTTCTATTTTTTTACAT	0.323																																																	0													98.0	94.0	96.0					8																	29961841		2203	4300	6503	SO:0001589	frameshift_variant	0			AF063605	CCDS6075.1, CCDS47834.1	8p12	2014-09-11			ENSG00000104660	ENSG00000104660			6555	protein-coding gene	gene with protein product		607338				11342119	Standard	NM_015344		Approved	my047, Vps55	uc003xhx.2	O95214	OTTHUMG00000163820	ENST00000321250.8:c.118delT	8.37:g.29961841delT	ENSP00000314625:p.Phe41fs		E9PHP8|Q9BW48	Frame_Shift_Del	DEL	pfam_VPS55	p.Y42fs	ENST00000321250.8	37	c.118	CCDS6075.1	8																																																																																			LEPROTL1	-	pfam_VPS55	ENSG00000104660		0.323	LEPROTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPROTL1	HGNC	protein_coding	OTTHUMT00000375771.2		0.00	80	0	T			29961841	+1	tier1		no_errors	ENST00000523116	ensembl	human	known	74_37	frame_shift_del	27.34	101	38	DEL	1.000	-
LETMD1	25875	genome.wustl.edu	37	12	51445997	51445997	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:51445997G>A	ENST00000262055.4	+	3	429				LETMD1_ENST00000550929.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000418425.2_Missense_Mutation_p.A133T	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1							integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ACAGGTATGGGCCAGGGGCAG	0.378																																																	0													54.0	55.0	55.0					12																	51445997		2203	4300	6503	SO:0001627	intron_variant	0			AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.390+7G>A	12.37:g.51445997G>A			A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	pfam_LETM1	p.A133T	ENST00000262055.4	37	c.397	CCDS8806.1	12	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733271	0.48939	.	.	ENSG00000050426	ENST00000418425	T	0.44482	0.92	4.95	2.15	0.27550	.	.	.	.	.	T	0.25082	0.0609	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.05037	-1.0910	7	.	.	.	.	6.4724	0.22015	0.2937:0.0:0.7063:0.0	.	133	B3KXK7	.	T	133	ENSP00000389903:A133T	.	A	+	1	0	LETMD1	49732264	1.000000	0.71417	0.884000	0.34674	0.373000	0.29922	1.434000	0.34958	0.803000	0.34113	-0.258000	0.10820	GCC	LETMD1	-	pfam_LETM1	ENSG00000050426		0.378	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETMD1	HGNC	protein_coding	OTTHUMT00000404710.1	-	0.00	63	0	G	NM_015416		51445997	+1	tier1	-	no_errors	ENST00000418425	ensembl	human	novel	74_37	missense	39.24	48	31	SNP	0.802	A
LHX4	89884	genome.wustl.edu	37	1	180243372	180243372	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:180243372delG	ENST00000263726.2	+	6	1075	c.831delG	c.(829-831)gtgfs	p.V277fs	RP5-1180C10.2_ENST00000440959.2_RNA|RP5-1180C10.2_ENST00000415414.1_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	277					medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						ATGGCAACGTGGGGGACGTTA	0.498																																																	0													102.0	97.0	99.0					1																	180243372		2203	4300	6503	SO:0001589	frameshift_variant	0			AB037683	CCDS1338.1	1q25.3	2011-06-20			ENSG00000121454	ENSG00000121454		"""Homeoboxes / LIM class"""	21734	protein-coding gene	gene with protein product		602146				11844481, 11567216	Standard	NM_033343		Approved	Gsh4	uc001goe.2	Q969G2	OTTHUMG00000035115	ENST00000263726.2:c.831delG	1.37:g.180243372delG	ENSP00000263726:p.Val277fs		Q8NHE0|Q8NHM1|Q8TCJ1|Q8WWX2|Q969W2	Frame_Shift_Del	DEL	pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom	p.D279fs	ENST00000263726.2	37	c.831	CCDS1338.1	1																																																																																			LHX4	-	NULL	ENSG00000121454		0.498	LHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHX4	HGNC	protein_coding	OTTHUMT00000084995.2		0.00	59	0	G	NM_033343		180243372	+1	tier1		no_errors	ENST00000263726	ensembl	human	known	74_37	frame_shift_del	24.29	53	17	DEL	1.000	-
LGR6	59352	genome.wustl.edu	37	1	202287187	202287187	+	Missense_Mutation	SNP	G	G	A	rs143028945	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:202287187G>A	ENST00000367278.3	+	18	1845	c.1756G>A	c.(1756-1758)Gtg>Atg	p.V586M	LGR6_ENST00000255432.7_Missense_Mutation_p.V534M|LGR6_ENST00000439764.2_Missense_Mutation_p.V447M	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	586					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCTGCTGACCGTGTTCGCTGG	0.617																																																	0								G	MET/VAL,MET/VAL,MET/VAL	3,4403	6.2+/-15.9	0,3,2200	106.0	94.0	98.0		1756,1339,1600	0.9	0.2	1	dbSNP_134	98	0,8600		0,0,4300	no	missense,missense,missense	LGR6	NM_001017403.1,NM_001017404.1,NM_021636.2	21,21,21	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	586/968,447/829,534/916	202287187	3,13003	2203	4300	6503	SO:0001583	missense	0			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1756G>A	1.37:g.202287187G>A	ENSP00000356247:p.Val586Met		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn	p.V586M	ENST00000367278.3	37	c.1756	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941453	0.34283	6.81E-4	0.0	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.40225	1.04;1.04;1.04	5.5	0.863	0.19062	.	0.210733	0.40554	N	0.001077	T	0.44829	0.1312	L	0.47016	1.485	0.30205	N	0.798275	D;P;P	0.60575	0.988;0.763;0.896	P;B;P	0.55577	0.779;0.3;0.507	T	0.46762	-0.9168	10	0.59425	D	0.04	.	8.6329	0.33930	0.215:0.1138:0.6712:0.0	.	447;534;586	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	M	586;534;447	ENSP00000356247:V586M;ENSP00000255432:V534M;ENSP00000387869:V447M	ENSP00000255432:V534M	V	+	1	0	LGR6	200553810	0.997000	0.39634	0.236000	0.24074	0.928000	0.56348	2.553000	0.45837	0.282000	0.22254	0.485000	0.47835	GTG	LGR6	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn	ENSG00000133067		0.617	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	-	0.00	82	0	G	NM_021636		202287187	+1	tier1	rs143028945	no_errors	ENST00000367278	ensembl	human	known	74_37	missense	19.84	101	25	SNP	0.516	A
LILRA3	11026	genome.wustl.edu	37	19	54802012	54802012	+	Silent	SNP	C	C	T	rs149110195	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:54802012C>T	ENST00000251390.3	-	6	1267	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	LILRA3_ENST00000391744.3_Silent_p.A328A|LILRA3_ENST00000391745.1_Silent_p.A409A	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	392	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTAGGTCCCCGCGTGGGCCG	0.612																																																	0								C	,	0,4386		0,0,2193	115.0	102.0	107.0		984,1176	0.7	0.6	19	dbSNP_134	107	17,8353		3,11,4171	no	coding-synonymous,coding-synonymous	LILRA3	NM_001172654.1,NM_006865.3	,	3,11,6364	TT,TC,CC		0.2031,0.0,0.1333	,	328/376,392/440	54802012	17,12739	2193	4185	6378	SO:0001819	synonymous_variant	0			U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1176G>A	19.37:g.54802012C>T			J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.A392	ENST00000251390.3	37	c.1176	CCDS12887.1	19																																																																																			LILRA3	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	ENSG00000170866		0.612	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA3	HGNC	protein_coding	OTTHUMT00000140236.1	-	0.00	190	0	C			54802012	-1	tier1	rs149110195	no_errors	ENST00000251390	ensembl	human	known	74_37	silent	39.55	107	70	SNP	0.347	T
LILRA4	23547	genome.wustl.edu	37	19	54844919	54844919	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:54844919delG	ENST00000291759.4	-	8	1480	c.1424delC	c.(1423-1425)ccafs	p.P475fs	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	475					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GCTGCACCTTGGGGGGCTTCT	0.547																																																	0													79.0	69.0	72.0					19																	54844919		2203	4300	6503	SO:0001589	frameshift_variant	0			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1424delC	19.37:g.54844919delG	ENSP00000291759:p.Pro475fs		Q32MC4	Frame_Shift_Del	DEL	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.P475fs	ENST00000291759.4	37	c.1424	CCDS12890.1	19																																																																																			LILRA4	-	pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000239961		0.547	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA4	HGNC	protein_coding	OTTHUMT00000140229.2		0.00	108	0	G	NM_012276		54844919	-1	tier1		no_errors	ENST00000291759	ensembl	human	known	74_37	frame_shift_del	26.92	57	21	DEL	0.004	-
LILRA4	23547	genome.wustl.edu	37	19	54848276	54848276	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:54848276delG	ENST00000291759.4	-	6	1147	c.1091delC	c.(1090-1092)ccgfs	p.P364fs	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	364	Ig-like C2-type 4.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CAGACGCAACGGGGGATGGGC	0.597																																																	0													150.0	139.0	143.0					19																	54848276		2203	4300	6503	SO:0001589	frameshift_variant	0			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1091delC	19.37:g.54848276delG	ENSP00000291759:p.Pro364fs		Q32MC4	Frame_Shift_Del	DEL	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.P364fs	ENST00000291759.4	37	c.1091	CCDS12890.1	19																																																																																			LILRA4	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	ENSG00000239961		0.597	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA4	HGNC	protein_coding	OTTHUMT00000140229.2		0.00	200	0	G	NM_012276		54848276	-1	tier1		no_errors	ENST00000291759	ensembl	human	known	74_37	frame_shift_del	37.80	102	62	DEL	0.001	-
LILRB5	10990	genome.wustl.edu	37	19	54759311	54759311	+	Missense_Mutation	SNP	C	C	T	rs376519844		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:54759311C>T	ENST00000316219.5	-	5	897	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	LILRB5_ENST00000345866.6_Missense_Mutation_p.V164I|LILRB5_ENST00000449561.2_Missense_Mutation_p.V264I|LILRB5_ENST00000450632.1_Missense_Mutation_p.V255I	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	264	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGCCCTGGACGAGGTCATGT	0.652																																																	0								C	ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	50.0	49.0	49.0		790,490,790	0.2	0.0	19		49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LILRB5	NM_001081442.1,NM_001081443.1,NM_006840.3	29,29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	264/592,164/492,264/591	54759311	2,13004	2203	4300	6503	SO:0001583	missense	0			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.790G>A	19.37:g.54759311C>T	ENSP00000320390:p.Val264Ile		Q8N760	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V255I	ENST00000316219.5	37	c.763	CCDS12885.1	19	.	.	.	.	.	.	.	.	.	.	C	2.988	-0.208894	0.06140	2.27E-4	1.16E-4	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	2.62	0.214	0.15249	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.098760	0.02459	N	0.086366	T	0.05640	0.0148	N	0.16130	0.375	0.09310	N	1	B;P;B;B;B	0.41597	0.197;0.756;0.136;0.078;0.054	B;B;B;B;B	0.34038	0.067;0.174;0.035;0.015;0.046	T	0.27400	-1.0075	10	0.21540	T	0.41	.	4.7798	0.13197	0.0:0.2451:0.5056:0.2493	.	255;155;164;264;264	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	I	264;255;264;164	ENSP00000320390:V264I;ENSP00000414225:V255I;ENSP00000406478:V264I;ENSP00000263430:V164I	ENSP00000320390:V264I	V	-	1	0	LILRB5	59451123	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.659000	0.05323	0.136000	0.18733	-0.428000	0.05917	GTC	LILRB5	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000105609		0.652	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB5	HGNC	protein_coding	OTTHUMT00000142877.2	-	0.00	111	0	C			54759311	-1	tier1	-	no_errors	ENST00000450632	ensembl	human	known	74_37	missense	43.75	54	42	SNP	0.001	T
LIMCH1	22998	genome.wustl.edu	37	4	41634825	41634825	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:41634825C>T	ENST00000313860.7	+	9	989				LIMCH1_ENST00000381753.4_Intron|LIMCH1_ENST00000503057.1_Missense_Mutation_p.P554L|LIMCH1_ENST00000396595.3_Intron|LIMCH1_ENST00000512820.1_Intron|LIMCH1_ENST00000512632.1_Intron|LIMCH1_ENST00000511496.1_Intron|LIMCH1_ENST00000508501.1_Intron|LIMCH1_ENST00000509277.1_Intron|LIMCH1_ENST00000514096.1_Intron|LIMCH1_ENST00000512946.1_Intron|LIMCH1_ENST00000513024.1_Intron	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1						actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GCTCCTGTGCCGGAGTCTCAG	0.587																																																	0																																										SO:0001627	intron_variant	0			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.936-6124C>T	4.37:g.41634825C>T			A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.P554L	ENST00000313860.7	37	c.1661	CCDS33977.1	4	.	.	.	.	.	.	.	.	.	.	C	3.767	-0.048396	0.07407	.	.	ENSG00000064042	ENST00000503057;ENST00000313875	T	0.42513	0.97	5.04	-6.76	0.01732	.	1.536630	0.03721	N	0.251876	T	0.15825	0.0381	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38542	-0.9656	9	0.02654	T	1	1.8273	8.5208	0.33275	0.1043:0.2707:0.0:0.625	.	554	G5EA03	.	L	554;553	ENSP00000425631:P554L	ENSP00000316974:P553L	P	+	2	0	LIMCH1	41329582	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.413000	0.02473	-1.054000	0.03214	-0.952000	0.02654	CCG	LIMCH1	-	NULL	ENSG00000064042		0.587	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	-	0.00	86	0	C	NM_014988		41634825	+1	tier1	-	no_errors	ENST00000503057	ensembl	human	known	74_37	missense	40.00	57	38	SNP	0.000	T
LINC00052	145978	genome.wustl.edu	37	15	88121520	88121521	+	lincRNA	DEL	TC	TC	-	rs558084890|rs367939444|rs142830514	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:88121520_88121521delTC	ENST00000560153.1	+	0	389_390				RP11-648K4.2_ENST00000560439.1_lincRNA	NR_026869.1		Q96N35	TMM83_HUMAN	long intergenic non-protein coding RNA 52							integral component of membrane (GO:0016021)											tctgtttatgtctctctctctc	0.431																																																	0																																												0			AK056023		15q25.3	2012-10-12	2011-08-10	2011-08-10		ENSG00000259527		"""Long non-coding RNAs"""	26455	non-coding RNA	RNA, long non-coding			"""transmembrane protein 83"", ""non-protein coding RNA 52"""	TMEM83, NCRNA00052			Standard	NR_026869		Approved	FLJ31461	uc002bmc.1	Q96N35			15.37:g.88121530_88121531delTC				RNA	DEL	-	NULL	ENST00000560153.1	37	NULL		15																																																																																			LINC00052	-	-	ENSG00000259527		0.431	LINC00052-002	KNOWN	basic	lincRNA	LINC00052	HGNC	lincRNA	OTTHUMT00000416151.1		0.00	58	0	TC	XR_017978		88121521	+1	tier1		no_errors	ENST00000560153	ensembl	human	known	74_37	rna	37.21	27	16	DEL	0.018:0.021	-
MIR9-2	407047	genome.wustl.edu	37	5	87969079	87969079	+	RNA	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:87969079delA	ENST00000510274.1	+	0	0																											ACCAAGGAGTAAAAAAAAAGC	0.498																																																	0																																												0																															5.37:g.87969079delA				RNA	DEL	-	NULL	ENST00000510274.1	37	NULL		5																																																																																			LINC00461	-	-	ENSG00000245526		0.498	CTC-467M3.1-001	KNOWN	basic	antisense	LINC00461	HGNC	antisense	OTTHUMT00000369794.1		0.00	52	0	A			87969079	-1	tier1		no_errors	ENST00000505030	ensembl	human	known	74_37	rna	26.32	42	15	DEL	0.276	-
LINC00477	144360	genome.wustl.edu	37	12	24736735	24736735	+	lincRNA	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:24736735delA	ENST00000483544.1	-	0	367					NR_029451.2		Q96M19	CL067_HUMAN	long intergenic non-protein coding RNA 477							integral component of membrane (GO:0016021)											GGCGAAGAAGAAAAAAAAATC	0.572																																																	0													44.0	49.0	47.0					12																	24736735		2203	4300	6503			0			AK057456		12p12.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000197503	ENSG00000197503		"""Long non-coding RNAs"""	26557	non-coding RNA	RNA, long non-coding	"""family with sequence similarity 191, member B"""		"""chromosome 12 open reading frame 67"""	C12orf67		14702039	Standard	NR_029451		Approved	FLJ32894, FAM191B	uc001rgb.1	Q96M19	OTTHUMG00000159485		12.37:g.24736735delA				RNA	DEL	-	NULL	ENST00000483544.1	37	NULL		12																																																																																			LINC00477	-	-	ENSG00000197503		0.572	LINC00477-001	KNOWN	basic	lincRNA	LINC00477	HGNC	lincRNA	OTTHUMT00000355725.1		0.00	33	0	A	NM_144667		24736735	-1	tier1		no_errors	ENST00000483544	ensembl	human	known	74_37	rna	76.19	15	48	DEL	0.092	-
LINC00488	677779	genome.wustl.edu	37	3	108897049	108897049	+	lincRNA	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:108897049delG	ENST00000494582.1	+	0	38				RP11-59E19.4_ENST00000562158.1_lincRNA	NR_026767.1				long intergenic non-protein coding RNA 488																		GGGAAGCAAAGGTGGCACATT	0.458																																																	0																																												0			AK123226		3q13.13	2012-10-12	2011-09-14	2011-09-14	ENSG00000214381	ENSG00000214381		"""Long non-coding RNAs"""	32675	non-coding RNA	RNA, long non-coding			"""chromosome 3 open reading frame 66"""	C3orf66			Standard	NR_026767		Approved	FLJ41232	uc003dxn.4		OTTHUMG00000159206		3.37:g.108897049delG				RNA	DEL	-	NULL	ENST00000494582.1	37	NULL		3																																																																																			LINC00488	-	-	ENSG00000214381		0.458	LINC00488-001	KNOWN	basic	lincRNA	LINC00488	HGNC	lincRNA	OTTHUMT00000353835.1		0.00	71	0	G	NR_026767		108897049	+1	tier1		no_errors	ENST00000494582	ensembl	human	known	74_37	rna	40.00	24	16	DEL	0.115	-
COMMD9	29099	genome.wustl.edu	37	11	36293077	36293077	+	IGR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:36293077C>T	ENST00000263401.5	-	0	1745				COMMD9_ENST00000533308.1_5'Flank|LINC00610_ENST00000355500.1_lincRNA	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9											kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				tgtggccctacgtggcatgcc	0.498																																																	0													80.0	72.0	75.0					11																	36293077		1947	3625	5572	SO:0001628	intergenic_variant	0			AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333		11.37:g.36293077C>T			E9PAN2|Q96FI2|Q9H0R0	RNA	SNP	-	NULL	ENST00000263401.5	37	NULL	CCDS7900.1	11	.	.	.	.	.	.	.	.	.	.	C	2.085	-0.409832	0.04799	.	.	ENSG00000196559	ENST00000355500	.	.	.	2.18	-4.35	0.03656	.	.	.	.	.	T	0.53142	0.1778	.	.	.	.	.	.	.	.	.	.	.	.	T	0.60520	-0.7247	4	0.87932	D	0	.	10.1152	0.42587	0.0:0.3514:0.0:0.6486	.	.	.	.	I	94	.	ENSP00000347687:V94I	V	-	1	0	C11orf55	36249653	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.401000	0.02502	-2.096000	0.00852	-1.814000	0.00607	GTA	LINC00610	-	-	ENSG00000196559		0.498	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINC00610	HGNC	protein_coding	OTTHUMT00000389196.1	-	0.00	44	0	C	NM_014186		36293077	-1	tier1	-	no_errors	ENST00000355500	ensembl	human	known	74_37	rna	41.94	18	13	SNP	0.000	T
CCER1	196477	genome.wustl.edu	37	12	91340253	91340253	+	Intron	DEL	T	T	-	rs5799966|rs397849978		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:91340253delT	ENST00000548187.1	-	3	193				LINC00615_ENST00000546725.1_lincRNA			Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1																		AAAGCCTTCCttttttttttt	0.423																																																	0																																										SO:0001627	intron_variant	0			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000548187.1:c.283-5399A>-	12.37:g.91340253delT			Q8TC47	RNA	DEL	-	NULL	ENST00000548187.1	37	NULL		12																																																																																			LINC00615	-	-	ENSG00000196243		0.423	CCER1-001	KNOWN	basic	processed_transcript	LINC00615	HGNC	protein_coding	OTTHUMT00000407141.1		0.00	23	0	T	NM_152638		91340253	+1	tier1		no_errors	ENST00000546725	ensembl	human	known	74_37	rna	50.00	7	7	DEL	0.148	-
LINC00634	339674	genome.wustl.edu	37	22	42354516	42354516	+	RNA	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:42354516delG	ENST00000381348.4	+	0	1089					NR_024355.1				long intergenic non-protein coding RNA 634																		gagagagTCTGGGGGGAGCGG	0.592																																																	0																																												0					22q13.2	2012-10-12			ENSG00000205704	ENSG00000205704		"""Long non-coding RNAs"""	27930	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_024355		Approved				OTTHUMG00000151274		22.37:g.42354516delG				RNA	DEL	-	NULL	ENST00000381348.4	37	NULL		22																																																																																			LINC00634	-	-	ENSG00000205704		0.592	LINC00634-002	KNOWN	basic|exp_conf	processed_transcript	LINC00634	HGNC	pseudogene	OTTHUMT00000322049.1		0.00	15	0	G	NR_024355		42354516	+1			no_errors	ENST00000381348	ensembl	human	known	74_37	rna	50.00	5	5	DEL	0.001	0
LINC00862	554279	genome.wustl.edu	37	1	200311674	200311674	+	lincRNA	DEL	C	C	-	rs374198468|rs2790110	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:200311674delC	ENST00000367355.1	-	0	1414					NR_040064.1		A6NCI5	SIM16_HUMAN	long intergenic non-protein coding RNA 862							integral component of membrane (GO:0016021)											aacaaacaaacaaaaaacaga	0.443																																																	0																																												0			BC040731		1q32.1	2014-04-09	2013-02-22	2013-02-22	ENSG00000203721	ENSG00000203721		"""Long non-coding RNAs"""	21901	other	unknown			"""chromosome 1 open reading frame 98"", ""small integral membrane protein 16"""	C1orf98, SMIM16			Standard	NR_040064		Approved		uc001gvd.1	A6NCI5	OTTHUMG00000035722		1.37:g.200311674delC				RNA	DEL	-	NULL	ENST00000367355.1	37	NULL		1																																																																																			LINC00862	-	-	ENSG00000203721		0.443	LINC00862-001	KNOWN	basic	lincRNA	LINC00862	HGNC	lincRNA	OTTHUMT00000086877.1		0.00	19	0	C	NR_040064		200311674	-1	tier1		no_errors	ENST00000367355	ensembl	human	known	74_37	rna	33.33	22	11	DEL	0.026	-
LINC00862	554279	genome.wustl.edu	37	1	200311673	200311674	+	lincRNA	DEL	AC	AC	-	rs374198468|rs2790110	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AC	AC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:200311673_200311674delAC	ENST00000367355.1	-	0	1414_1415					NR_040064.1		A6NCI5	SIM16_HUMAN	long intergenic non-protein coding RNA 862							integral component of membrane (GO:0016021)											aaacaaacaaacaaaaaacaga	0.446																																																	0																																												0			BC040731		1q32.1	2014-04-09	2013-02-22	2013-02-22	ENSG00000203721	ENSG00000203721		"""Long non-coding RNAs"""	21901	other	unknown			"""chromosome 1 open reading frame 98"", ""small integral membrane protein 16"""	C1orf98, SMIM16			Standard	NR_040064		Approved		uc001gvd.1	A6NCI5	OTTHUMG00000035722		1.37:g.200311673_200311674delAC				RNA	DEL	-	NULL	ENST00000367355.1	37	NULL		1																																																																																			LINC00862	-	-	ENSG00000203721		0.446	LINC00862-001	KNOWN	basic	lincRNA	LINC00862	HGNC	lincRNA	OTTHUMT00000086877.1		0.00	19	0	AC	NR_040064		200311674	-1			no_errors	ENST00000367355	ensembl	human	known	74_37	rna	21.95	32	9	DEL	0.022:0.026	0
LINC00910	100130581	genome.wustl.edu	37	17	41465839	41465839	+	lincRNA	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:41465839delG	ENST00000606190.1	-	0	0									long intergenic non-protein coding RNA 910																		AAAAGAGACAGGGGGTGAAAA	0.562																																																	0																																												0			BC035366		17q21.31	2013-05-21			ENSG00000188825	ENSG00000188825		"""Long non-coding RNAs"""	44361	non-coding RNA	RNA, long non-coding							Standard	NR_027412		Approved				OTTHUMG00000180880		17.37:g.41465839delG				RNA	DEL	-	NULL	ENST00000606190.1	37	NULL		17																																																																																			LINC00910	-	-	ENSG00000188825		0.562	LINC00910-201	KNOWN	basic	snRNA	LINC00910	HGNC	lincRNA			0.00	52	0	G	NR_027412		41465839	-1	tier1		no_errors	ENST00000341011	ensembl	human	known	74_37	rna	34.88	28	15	DEL	0.000	-
LINC00937	389634	genome.wustl.edu	37	12	8549046	8549046	+	lincRNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:8549046G>A	ENST00000544461.1	-	0	353									long intergenic non-protein coding RNA 937																		CTGTCTGGGTGCCGGTCTCCA	0.751																																																	0																																												0			BC073935		12p13.31	2013-05-30			ENSG00000226091	ENSG00000226091		"""Long non-coding RNAs"""	48629	non-coding RNA	RNA, long non-coding							Standard	NR_024420		Approved				OTTHUMG00000168663		12.37:g.8549046G>A				RNA	SNP	-	NULL	ENST00000544461.1	37	NULL		12																																																																																			LINC00937	-	-	ENSG00000226091		0.751	LINC00937-001	KNOWN	basic	lincRNA	LINC00937	HGNC	lincRNA	OTTHUMT00000400511.1	-	0.00	33	0	G			8549046	-1	tier1	-	no_errors	ENST00000538304	ensembl	human	known	74_37	rna	85.71	7	42	SNP	0.428	A
LINC00943	100507206	genome.wustl.edu	37	12	127229809	127229809	+	lincRNA	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:127229809delT	ENST00000535544.1	+	0	1826				LINC00944_ENST00000540684.1_lincRNA					long intergenic non-protein coding RNA 943																		GACTTCCATGTTTTTTTTAGA	0.338																																																	0																																												0					12q24.32	2013-05-30			ENSG00000189238	ENSG00000189238		"""Long non-coding RNAs"""	48639	non-coding RNA	RNA, long non-coding							Standard	NR_038256		Approved				OTTHUMG00000168479		12.37:g.127229809delT				RNA	DEL	-	NULL	ENST00000535544.1	37	NULL		12																																																																																			LINC00943	-	-	ENSG00000189238		0.338	LINC00943-002	KNOWN	basic	lincRNA	LINC00943	HGNC	lincRNA	OTTHUMT00000399867.1		0.00	37	0	T			127229809	+1	tier1		no_errors	ENST00000345111	ensembl	human	known	74_37	rna	20.69	23	6	DEL	0.004	-
LINC00982	440556	genome.wustl.edu	37	1	2979350	2979350	+	RNA	SNP	G	G	T	rs545079917	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:2979350G>T	ENST00000445317.1	-	0	2288				LINC00982_ENST00000453118.1_RNA|LINC00982_ENST00000606861.1_RNA|LINC00982_ENST00000321399.3_RNA|LINC00982_ENST00000321336.1_RNA|LINC00982_ENST00000415573.1_RNA|LINC00982_ENST00000413472.1_RNA	NR_015440.1				long intergenic non-protein coding RNA 982																		GGCTGCCGCCGGTGCCAAAAG	0.642																																																	0																																												0					1p36.32	2013-07-05			ENSG00000177133	ENSG00000177133		"""Long non-coding RNAs"""	48664	non-coding RNA	RNA, long non-coding						23801869	Standard	NR_015440		Approved	FLJ42875			OTTHUMG00000000563		1.37:g.2979350G>T				RNA	SNP	-	NULL	ENST00000445317.1	37	NULL		1																																																																																			LINC00982	-	-	ENSG00000177133		0.642	LINC00982-002	KNOWN	basic	antisense	LINC00982	HGNC	antisense	OTTHUMT00000001333.1	-	0.00	84	0	G			2979350	-1	tier1	-	no_errors	ENST00000321399	ensembl	human	known	74_37	rna	50.00	44	44	SNP	0.001	T
PRDM16	63976	genome.wustl.edu	37	1	2984123	2984123	+	5'Flank	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:2984123G>T	ENST00000270722.5	+	0	0				PRDM16_ENST00000378398.3_5'Flank|PRDM16_ENST00000514189.1_5'Flank|LINC00982_ENST00000445317.1_RNA|PRDM16_ENST00000378391.2_5'Flank|PRDM16_ENST00000511072.1_5'Flank|PRDM16_ENST00000442529.2_5'Flank|LINC00982_ENST00000321336.1_RNA|PRDM16_ENST00000441472.2_5'Flank			Q9HAZ2	PRD16_HUMAN	PR domain containing 16						brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGCTCCGCTGGGCTTTTCCTC	0.716			T	EVI1	"""MDS, AML"""																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0																																										SO:0001631	upstream_gene_variant	0			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581		1.37:g.2984123G>T	Exception_encountered		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	RNA	SNP	-	NULL	ENST00000270722.5	37	NULL	CCDS41236.2	1																																																																																			LINC00982	-	-	ENSG00000177133		0.716	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LINC00982	HGNC	protein_coding	OTTHUMT00000001382.3	-	0.00	22	0	G	NM_022114		2984123	-1	tier1	-	no_errors	ENST00000321336	ensembl	human	known	74_37	rna	71.43	4	10	SNP	0.000	T
LIPF	8513	genome.wustl.edu	37	10	90429680	90429680	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:90429680G>T	ENST00000238983.4	+	5	555	c.509G>T	c.(508-510)gGc>gTc	p.G170V	LIPF_ENST00000355843.2_Missense_Mutation_p.G147V|LIPF_ENST00000608620.1_Missense_Mutation_p.G137V|LIPF_ENST00000394375.3_Missense_Mutation_p.G180V	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	170					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	CACTATGTTGGCCATTCCCAG	0.433																																																	0													220.0	204.0	210.0					10																	90429680		2203	4300	6503	SO:0001583	missense	0			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.509G>T	10.37:g.90429680G>T	ENSP00000238983:p.Gly170Val		B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.G180V	ENST00000238983.4	37	c.539	CCDS7389.1	10	.	.	.	.	.	.	.	.	.	.	G	18.51	3.638785	0.67130	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	D;D;D	0.93659	-3.26;-3.26;-3.26	5.24	5.24	0.73138	Alpha/beta hydrolase fold-1 (1);	0.000000	0.56097	D	0.000027	D	0.98283	0.9431	H	0.98996	4.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.99494	1.0951	10	0.87932	D	0	-10.4813	17.7661	0.88478	0.0:0.0:1.0:0.0	.	137;180;147;170	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	V	180;170;137	ENSP00000377900:G180V;ENSP00000238983:G170V;ENSP00000348101:G137V	ENSP00000238983:G170V	G	+	2	0	LIPF	90419660	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	7.286000	0.78671	2.718000	0.92993	0.650000	0.86243	GGC	LIPF	-	pfam_AB_hydrolase_1	ENSG00000182333		0.433	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPF	HGNC	protein_coding	OTTHUMT00000049256.1	-	0.00	69	0	G			90429680	+1	tier1	-	no_errors	ENST00000394375	ensembl	human	known	74_37	missense	5.56	84	5	SNP	1.000	T
LIPF	8513	genome.wustl.edu	37	10	90438259	90438259	+	Missense_Mutation	SNP	G	G	T	rs200980006		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:90438259G>T	ENST00000238983.4	+	10	1064	c.1018G>T	c.(1018-1020)Ggt>Tgt	p.G340C	LIPF_ENST00000355843.2_Missense_Mutation_p.G317C|LIPF_ENST00000608620.1_Missense_Mutation_p.G307C|LIPF_ENST00000394375.3_Missense_Mutation_p.G350C	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	340					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	AGTGTGGAACGGTGGCAAGGA	0.448																																																	0													204.0	187.0	193.0					10																	90438259		2203	4300	6503	SO:0001583	missense	0			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.1018G>T	10.37:g.90438259G>T	ENSP00000238983:p.Gly340Cys		B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.G350C	ENST00000238983.4	37	c.1048	CCDS7389.1	10	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608652	0.66558	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	D;D;D	0.82893	-1.66;-1.66;-1.66	5.01	5.01	0.66863	Alpha/beta hydrolase fold-1 (1);	0.118039	0.38605	N	0.001630	D	0.94574	0.8252	H	0.99325	4.515	0.48040	D	0.999576	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.95445	0.8529	10	0.87932	D	0	-10.8562	11.6603	0.51343	0.0853:0.0:0.9147:0.0	.	307;350;317;340	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	C	350;340;307	ENSP00000377900:G350C;ENSP00000238983:G340C;ENSP00000348101:G307C	ENSP00000238983:G340C	G	+	1	0	LIPF	90428239	1.000000	0.71417	0.024000	0.17045	0.014000	0.08584	5.815000	0.69215	2.770000	0.95276	0.655000	0.94253	GGT	LIPF	-	pfam_AB_hydrolase_1	ENSG00000182333		0.448	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPF	HGNC	protein_coding	OTTHUMT00000049256.1	-	0.00	145	0	G			90438259	+1	tier1	-	no_errors	ENST00000394375	ensembl	human	known	74_37	missense	35.20	81	44	SNP	0.860	T
LLGL2	3993	genome.wustl.edu	37	17	73560612	73560612	+	Intron	SNP	G	G	A	rs373341692		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:73560612G>A	ENST00000392550.3	+	10	1153				LLGL2_ENST00000167462.5_Intron|LLGL2_ENST00000578363.1_Missense_Mutation_p.A354T|LLGL2_ENST00000375227.4_Missense_Mutation_p.A354T|LLGL2_ENST00000577200.1_Intron	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)						cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGAGTGGGTGCCCAGGGTTA	0.627																																																	0								G	THR/ALA,,	0,4406		0,0,2203	31.0	33.0	32.0		1060,,	-0.3	0.0	17		32	2,8598	2.2+/-6.3	0,2,4298	no	missense,intron,intron	LLGL2	NM_001015002.1,NM_001031803.1,NM_004524.2	58,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	354/357,,	73560612	2,13004	2203	4300	6503	SO:0001627	intron_variant	0			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1036+24G>A	17.37:g.73560612G>A			Q14521|Q9BR62	Missense_Mutation	SNP	pfam_LLGL2,superfamily_WD40_repeat_dom,prints_Lethal2_giant	p.A354T	ENST00000392550.3	37	c.1060	CCDS32733.1	17	.	.	.	.	.	.	.	.	.	.	G	8.264	0.811894	0.16537	0.0	2.33E-4	ENSG00000073350	ENST00000375227	T	0.32515	1.45	4.42	-0.294	0.12831	.	.	.	.	.	T	0.21881	0.0527	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30504	-0.9976	5	.	.	.	.	6.9089	0.24325	0.2663:0.134:0.5997:0.0	.	.	.	.	T	354	ENSP00000364375:A354T	.	A	+	1	0	LLGL2	71072207	0.017000	0.18338	0.000000	0.03702	0.003000	0.03518	0.113000	0.15499	0.092000	0.17331	-1.203000	0.01651	GCC	LLGL2	-	NULL	ENSG00000073350		0.627	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1	-	0.00	152	0	G	NM_004524		73560612	+1	tier1	-	no_errors	ENST00000375227	ensembl	human	known	74_37	missense	39.56	55	36	SNP	0.000	A
LLGL2	3993	genome.wustl.edu	37	17	73565329	73565329	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:73565329G>T	ENST00000392550.3	+	14	1621	c.1504G>T	c.(1504-1506)Gac>Tac	p.D502Y	LLGL2_ENST00000167462.5_Missense_Mutation_p.D502Y|LLGL2_ENST00000577200.1_Missense_Mutation_p.D502Y	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	502					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.D502N(1)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTACAGTGATGACCCCCGGCT	0.672																																																	1	Substitution - Missense(1)	large_intestine(1)											60.0	64.0	63.0					17																	73565329		2203	4300	6503	SO:0001583	missense	0			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1504G>T	17.37:g.73565329G>T	ENSP00000376333:p.Asp502Tyr		Q14521|Q9BR62	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.D502Y	ENST00000392550.3	37	c.1504	CCDS32733.1	17	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737513	0.30774	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.48201	0.82;0.82	5.29	3.29	0.37713	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73536	0.3599	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0	T	0.78319	-0.2250	10	0.87932	D	0	-14.5691	11.982	0.53125	0.1423:0.0:0.8577:0.0	.	129;491;491;502;502	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	Y	502;502;491	ENSP00000167462:D502Y;ENSP00000376333:D502Y	ENSP00000167462:D502Y	D	+	1	0	LLGL2	71076924	1.000000	0.71417	0.149000	0.22428	0.990000	0.78478	9.807000	0.99171	0.615000	0.30124	0.555000	0.69702	GAC	LLGL2	-	superfamily_WD40_repeat_dom	ENSG00000073350		0.672	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1		0.00	66	0	G	NM_004524		73565329	+1			no_errors	ENST00000392550	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	T
LMAN1	3998	genome.wustl.edu	37	18	57013285	57013285	+	Splice_Site	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:57013285delT	ENST00000251047.5	-	8	1540		c.e8-2		LMAN1_ENST00000587940.1_Splice_Site	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGTGTGGGCTTTTTTTTGGA	0.294																																																	0													75.0	83.0	80.0					18																	57013285		2202	4298	6500	SO:0001630	splice_region_variant	0			X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.823-2A>-	18.37:g.57013285delT			Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Splice_Site	DEL	-	e8-2	ENST00000251047.5	37	c.823-2	CCDS11974.1	18																																																																																			LMAN1	-	-	ENSG00000074695		0.294	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMAN1	HGNC	protein_coding	OTTHUMT00000256129.2		0.00	31	0	T	NM_005570	Intron	57013285	-1	tier1		no_errors	ENST00000251047	ensembl	human	known	74_37	splice_site_del	33.33	24	12	DEL	1.000	-
LMLN	89782	genome.wustl.edu	37	3	197748396	197748396	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:197748396C>A	ENST00000330198.4	+	13	1467	c.1445C>A	c.(1444-1446)cCt>cAt	p.P482H	LMLN_ENST00000420910.2_Missense_Mutation_p.P519H|LMLN_ENST00000482695.1_Missense_Mutation_p.P467H|LMLN_ENST00000332636.5_Missense_Mutation_p.P430H	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	482					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GACTACTGCCCTTTCAGTCAG	0.413																																																	0													158.0	156.0	157.0					3																	197748396		2203	4300	6503	SO:0001583	missense	0			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1445C>A	3.37:g.197748396C>A	ENSP00000328829:p.Pro482His		B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	pfam_Peptidase_M8	p.P482H	ENST00000330198.4	37	c.1445	CCDS3332.1	3	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015207	0.75161	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.46	5.46	0.80206	.	0.111229	0.64402	D	0.000006	D	0.85869	0.5797	M	0.84948	2.725	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.87908	0.2695	10	0.87932	D	0	-6.2077	16.8656	0.86028	0.0:1.0:0.0:0.0	.	482;430;519;511;467	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	H	467;482;519;430	ENSP00000418324:P467H;ENSP00000328829:P482H;ENSP00000410926:P519H;ENSP00000328611:P430H	ENSP00000328829:P482H	P	+	2	0	LMLN	199232793	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	7.372000	0.79612	2.575000	0.86900	0.650000	0.86243	CCT	LMLN	-	pfam_Peptidase_M8	ENSG00000185621		0.413	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMLN	HGNC	protein_coding	OTTHUMT00000339701.1	-	0.00	27	0	C	NM_033029		197748396	+1	tier1	-	no_errors	ENST00000330198	ensembl	human	known	74_37	missense	52.83	25	28	SNP	1.000	A
LMNA	4000	genome.wustl.edu	37	1	156106205	156106205	+	Missense_Mutation	SNP	G	G	A	rs267607598		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:156106205G>A	ENST00000368300.4	+	7	1570	c.1358G>A	c.(1357-1359)cGg>cAg	p.R453Q	LMNA_ENST00000347559.2_Missense_Mutation_p.R453Q|LMNA_ENST00000368297.1_Missense_Mutation_p.R372Q|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000448611.2_Missense_Mutation_p.R341Q|LMNA_ENST00000473598.2_Missense_Mutation_p.R354Q|LMNA_ENST00000368299.3_Missense_Mutation_p.R453Q|LMNA_ENST00000392353.3_Missense_Mutation_p.R372Q|LMNA_ENST00000368301.2_Missense_Mutation_p.R453Q|LMNA_ENST00000361308.4_Missense_Mutation_p.R453Q	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	453	LTD.|Tail.		R -> P (in MDCL). {ECO:0000269|PubMed:18551513}.|R -> W (in EDMD2; interacts with itself and with wild-type LMNA and LMNB1; no decrease in the stability compared with wild-type). {ECO:0000269|PubMed:10080180, ECO:0000269|PubMed:10739764, ECO:0000269|PubMed:10939567, ECO:0000269|PubMed:11503164, ECO:0000269|PubMed:14684700, ECO:0000269|PubMed:20848652}.		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AAGTTTGTCCGGCTGCGCAAC	0.597									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																																								0			GRCh37	CM083716	LMNA	M							48.0	53.0	52.0					1																	156106205		2198	4292	6490	SO:0001583	missense	0	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.1358G>A	1.37:g.156106205G>A	ENSP00000357283:p.Arg453Gln		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.R453Q	ENST00000368300.4	37	c.1358	CCDS1129.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062183	0.76187	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000448611;ENST00000368297;ENST00000473598;ENST00000392353;ENST00000508500	D;D;D;D;D;D;D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86;-4.86	5.74	5.74	0.90152	Intermediate filament, C-terminal (1);	0.000000	0.52532	D	0.000070	D	0.97636	0.9225	L	0.39147	1.195	0.80722	D	1	P;P;D;P;D;D;P;D	0.76494	0.909;0.473;0.982;0.909;0.999;0.998;0.797;0.977	B;B;P;B;P;P;B;B	0.60949	0.261;0.093;0.493;0.191;0.881;0.788;0.046;0.36	D	0.97437	1.0019	10	0.41790	T	0.15	.	17.4233	0.87520	0.0:0.0:1.0:0.0	.	109;341;453;354;372;453;453;453	B4DFR3;E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;.;LMNA_HUMAN;.;.	Q	453;453;453;453;453;341;372;354;372;79	ENSP00000357284:R453Q;ENSP00000292304:R453Q;ENSP00000355292:R453Q;ENSP00000357283:R453Q;ENSP00000357282:R453Q;ENSP00000395597:R341Q;ENSP00000357280:R372Q;ENSP00000421821:R354Q;ENSP00000376164:R372Q;ENSP00000424977:R79Q	ENSP00000292304:R453Q	R	+	2	0	LMNA	154372829	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.685000	0.61693	2.695000	0.91970	0.655000	0.94253	CGG	LMNA	-	pfam_Lamin_tail_dom	ENSG00000160789		0.597	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMNA	HGNC	protein_coding	OTTHUMT00000039200.2	-	0.00	122	0	G	NM_170707		156106205	+1	tier1	-	no_errors	ENST00000368300	ensembl	human	known	74_37	missense	6.14	106	7	SNP	1.000	A
LMNB2	84823	genome.wustl.edu	37	19	2434830	2434830	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:2434830G>A	ENST00000582871.1	-	6	963	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	LMNB2_ENST00000325327.3_Missense_Mutation_p.R313C	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	293	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTCCAGGCGCATGCGGGCC	0.687																																																	0													19.0	16.0	17.0					19																	2434830		2195	4284	6479	SO:0001583	missense	0			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.877C>T	19.37:g.2434830G>A	ENSP00000462730:p.Arg293Cys		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.R313C	ENST00000582871.1	37	c.937		19	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886828	0.72410	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.43	3.35	0.38373	Filament (1);	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	M	0.89214	3.015	0.80722	D	1	D	0.57899	0.981	P	0.53649	0.731	T	0.78435	-0.2205	9	0.87932	D	0	.	8.9215	0.35615	0.0:0.0:0.5516:0.4484	.	293	Q03252	LMNB2_HUMAN	C	293	.	ENSP00000327054:R293C	R	-	1	0	LMNB2	2385830	1.000000	0.71417	0.926000	0.36857	0.898000	0.52572	1.844000	0.39269	2.008000	0.58898	0.561000	0.74099	CGC	LMNB2	-	pfam_IF	ENSG00000176619		0.687	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	LMNB2	HGNC	protein_coding		-	0.00	25	0	G	NM_032737		2434830	-1	tier1	-	no_errors	ENST00000325327	ensembl	human	known	74_37	missense	48.00	13	12	SNP	0.942	A
MYOCD	93649	genome.wustl.edu	37	17	12666295	12666295	+	Intron	SNP	G	G	A	rs536481153		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:12666295G>A	ENST00000343344.4	+	13	2245				MYOCD_ENST00000425538.1_Intron|RP11-1090M7.1_ENST00000584772.1_RNA			Q8IZQ8	MYCD_HUMAN	myocardin						cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ccagggaagcgtggccatctt	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		19595	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2246-95G>A	17.37:g.12666295G>A			Q5UBU5|Q8N7Q1	RNA	SNP	-	NULL	ENST00000343344.4	37	NULL	CCDS11163.1	17																																																																																			RP11-1090M7.1	-	-	ENSG00000265489		0.453	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100128006	Clone_based_vega_gene	protein_coding	OTTHUMT00000129950.1	-	0.00	11	0	G	NM_153604		12666295	-1	tier1	-	no_errors	ENST00000584772	ensembl	human	known	74_37	rna	47.06	9	8	SNP	0.000	A
MAD1L1	8379	genome.wustl.edu	37	7	1885537	1885537	+	Intron	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:1885537C>A	ENST00000406869.1	-	19	2556				MAD1L1_ENST00000265854.7_Intron|AC110781.3_ENST00000318959.3_Intron|MAD1L1_ENST00000399654.2_Intron|AC110781.3_ENST00000480694.1_3'UTR|MAD1L1_ENST00000402746.1_Intron|AC110781.3_ENST00000402221.1_Intron|MIR4655_ENST00000580817.1_RNA			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CTCCTGCTGCCTCGGGGACAA	0.612																																																	0																																										SO:0001627	intron_variant	0			U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1999-29673G>T	7.37:g.1885537C>A			B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	RNA	SNP	-	NULL	ENST00000406869.1	37	NULL	CCDS43539.1	7																																																																																			AC110781.3	-	-	ENSG00000176349		0.612	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LOC100128374	Clone_based_vega_gene	protein_coding	OTTHUMT00000322871.1	-	0.00	49	0	C	NM_003550		1885537	+1	tier1	-	no_errors	ENST00000480694	ensembl	human	known	74_37	rna	44.74	21	17	SNP	0.000	A
LOC100128714	100128714	genome.wustl.edu	37	15	26147715	26147715	+	lincRNA	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:26147715T>C	ENST00000383019.2	+	0	207					NR_040082.1																						aaaatgtgggtgagcatatcc	0.567																																																	0																																												0																															15.37:g.26147715T>C				Splice_Site	SNP	-	NULL	ENST00000383019.2	37	c.NULL		15																																																																																			RP11-1084I9.1	-	-	ENSG00000206187		0.567	RP11-1084I9.1-001	KNOWN	basic	lincRNA	LOC100128714	Clone_based_vega_gene	lincRNA	OTTHUMT00000414884.1	-	0.00	21	0	T			26147715	+1	tier1	-	no_errors	ENST00000383019	ensembl	human	known	74_37	splice_site	35.29	10	6	SNP	0.000	C
PKP4	8502	genome.wustl.edu	37	2	159516742	159516742	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:159516742C>T	ENST00000389759.3	+	13	2205				AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Intron	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4						cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						tgtctatgtgccagtgtcaag	0.483										HNSCC(62;0.18)																																							0																																										SO:0001627	intron_variant	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2094-1103C>T	2.37:g.159516742C>T			Q86W91	RNA	SNP	-	NULL	ENST00000389759.3	37	NULL	CCDS33305.1	2																																																																																			AC005042.4	-	-	ENSG00000204380		0.483	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100129029	Clone_based_vega_gene	protein_coding	OTTHUMT00000333250.1	-	0.00	25	0	C			159516742	-1	tier1	-	no_errors	ENST00000342892	ensembl	human	known	74_37	rna	42.42	19	14	SNP	0.000	T
LOC100129138	100129138	genome.wustl.edu	37	1	104615648	104615648	+	lincRNA	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:104615648C>T	ENST00000418362.1	+	0	4					NR_033990.1																						AAGTCGTGCGCGGCCTGGCAG	0.587																																																	0																																												0																															1.37:g.104615648C>T				RNA	SNP	-	NULL	ENST00000418362.1	37	NULL		1																																																																																			RP11-364B6.1	-	-	ENSG00000215869		0.587	RP11-364B6.1-001	KNOWN	basic	lincRNA	LOC100129138	Clone_based_vega_gene	lincRNA	OTTHUMT00000030377.1	-	0.00	8	0	C			104615648	+1	tier1	-	no_errors	ENST00000418362	ensembl	human	known	74_37	rna	26.67	11	4	SNP	0.975	T
CADM3	57863	genome.wustl.edu	37	1	159166613	159166613	+	Intron	DEL	T	T	-	rs533935187		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:159166613delT	ENST00000368125.4	+	7	939				CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Intron	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CTCCCAGTTATTTTTTTTTTT	0.527											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	0			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.783-68T>-	1.37:g.159166613delT		1799	Q8IZQ9|Q9NVJ5|Q9UJP1	RNA	DEL	-	NULL	ENST00000368125.4	37	NULL	CCDS44251.1	1																																																																																			CTA-134P22.2	-	-	ENSG00000225670		0.527	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC100131825	Clone_based_vega_gene	protein_coding	OTTHUMT00000090330.1		0.00	23	0	T	NM_021189		159166613	-1	tier1		no_errors	ENST00000415675	ensembl	human	known	74_37	rna	45.00	11	9	DEL	0.000	-
LOC100130331	100130331	genome.wustl.edu	37	1	238090646	238090646	+	RNA	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:238090646C>A	ENST00000450451.1	+	0	2152					NR_027247.2																						GGGCTATGCCCTCCCACATGC	0.622																																																	0																																												0																															1.37:g.238090646C>A				RNA	SNP	-	NULL	ENST00000450451.1	37	NULL		1																																																																																			RP11-193H5.1	-	-	ENSG00000237250		0.622	RP11-193H5.1-001	KNOWN	basic	antisense	LOC100130331	Clone_based_vega_gene	antisense	OTTHUMT00000095477.1	-	0.00	48	0	C			238090646	+1	tier1	-	no_errors	ENST00000450451	ensembl	human	known	74_37	rna	33.33	20	10	SNP	1.000	A
TMEM8A	58986	genome.wustl.edu	37	16	436712	436714	+	Intron	DEL	AAA	AAA	-	rs374913403		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:436712_436714delAAA	ENST00000476735.1	-	1	217				Z97634.3_ENST00000412293.1_RNA			Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A						cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						cagtctctacaaaaaaaaaaaaa	0.384																																																	0																																										SO:0001627	intron_variant	0			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000476735.1:c.584+182TTT>-	16.37:g.436721_436723delAAA			D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	RNA	DEL	-	NULL	ENST00000476735.1	37	NULL		16																																																																																			Z97634.3	-	-	ENSG00000236829		0.384	TMEM8A-007	KNOWN	basic	processed_transcript	LOC100134368	Clone_based_vega_gene	protein_coding	OTTHUMT00000313680.1		0.00	10	0	AAA	NM_021259		436714	+1	tier1		no_errors	ENST00000457760	ensembl	human	known	74_37	rna	36.36	7	4	DEL	0.000:0.001:0.000	-
LOC100288175	100288175	genome.wustl.edu	37	1	998558	998558	+	lincRNA	DEL	G	G	-	rs74045102	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:998558delG	ENST00000442292.2	-	0	110				RP11-465B22.3_ENST00000427998.1_RNA																							AGAGCAGCCCGGGGGGCTTCA	0.652																																																	0																																												0																															1.37:g.998558delG				RNA	DEL	-	NULL	ENST00000442292.2	37	NULL		1																																																																																			RP11-465B22.3	-	-	ENSG00000217801		0.652	RP11-54O7.18-001	KNOWN	basic	lincRNA	LOC100288175	Clone_based_vega_gene	lincRNA	OTTHUMT00000472501.1		0.00	91	0	G			998558	+1	tier1		no_errors	ENST00000394517	ensembl	human	known	74_37	rna	39.44	43	28	DEL	0.500	-
MAZ	4150	genome.wustl.edu	37	16	29821984	29821986	+	3'UTR	DEL	TTT	TTT	-	rs71650270		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:29821984_29821986delTTT	ENST00000322945.6	+	0	2031_2033				MAZ_ENST00000568544.1_3'UTR|MAZ_ENST00000563402.1_3'UTR|MAZ_ENST00000219782.6_3'UTR|PRRT2_ENST00000300797.6_5'Flank|PRRT2_ENST00000567659.1_5'Flank|MAZ_ENST00000545521.1_3'UTR|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_3'UTR|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000566906.2_3'UTR|AC009133.20_ENST00000569039.1_RNA|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000568282.1_3'UTR|PRRT2_ENST00000358758.7_5'Flank	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTCTTTTCCTTTTTTTTTTTTT	0.581																																					Colon(72;875 1167 15364 30899 37091)												0																																										SO:0001624	3_prime_UTR_variant	0			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.*434TTT>-	16.37:g.29821993_29821995delTTT			A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	RNA	DEL	-	NULL	ENST00000322945.6	37	NULL	CCDS42143.1	16																																																																																			AC009133.14	-	-	ENSG00000238045		0.581	MAZ-001	KNOWN	basic|CCDS	protein_coding	LOC100289283	Clone_based_vega_gene	protein_coding	OTTHUMT00000435536.1		0.00	49	0	TTT	NM_002383		29821986	-1	tier1		no_errors	ENST00000569981	ensembl	human	known	74_37	rna	31.25	22	10	DEL	0.000:0.004:0.969	-
RNF213	57674	genome.wustl.edu	37	17	78326965	78326965	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:78326965G>A	ENST00000582970.1	+	33	10566				CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Intron|RNF213_ENST00000508628.2_Intron	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213						ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACCGTGTTTCGTCCCTCGGCA	0.642																																																	0																																										SO:0001627	intron_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10423+106G>A	17.37:g.78326965G>A			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	RNA	SNP	-	NULL	ENST00000582970.1	37	NULL	CCDS58606.1	17																																																																																			CTD-2047H16.4	-	-	ENSG00000263069		0.642	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC100294362	Clone_based_vega_gene	protein_coding	OTTHUMT00000443298.1	-	0.00	38	0	G	NM_020914		78326965	-1	tier1	-	no_errors	ENST00000575034	ensembl	human	known	74_37	rna	36.11	23	13	SNP	0.000	A
SMG1P7	100506060	genome.wustl.edu	37	16	70253647	70253647	+	RNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:70253647G>A	ENST00000581050.1	-	0	1727					NR_033959.1																						tcacacaagtgaagacatgtt	0.373																																																	0																																												0																															16.37:g.70253647G>A				RNA	SNP	-	NULL	ENST00000581050.1	37	NULL		16																																																																																			RP11-296I10.6	-	-	ENSG00000261556		0.373	RP11-296I10.6-006	KNOWN	basic	processed_transcript	LOC100506060	Clone_based_vega_gene	pseudogene	OTTHUMT00000441629.1	-	0.00	24	0	G			70253647	-1	tier1	-	no_errors	ENST00000573141	ensembl	human	known	74_37	rna	22.86	54	16	SNP	0.002	A
EBLN3	100506710	genome.wustl.edu	37	9	37080331	37080331	+	lincRNA	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:37080331C>A	ENST00000429493.1	+	0	439				RP11-220I1.5_ENST00000569583.1_lincRNA	NR_036592.1																						TTTTTATCTCCCCGCAAGGCC	0.642																																																	0																																												0																															9.37:g.37080331C>A				RNA	SNP	-	NULL	ENST00000429493.1	37	NULL		9																																																																																			RP11-220I1.1	-	-	ENSG00000233137		0.642	RP11-220I1.1-001	KNOWN	basic	lincRNA	LOC100506710	Clone_based_vega_gene	lincRNA	OTTHUMT00000052436.1	-	0.00	85	0	C			37080331	+1	tier1	-	no_errors	ENST00000429493	ensembl	human	known	74_37	rna	29.31	41	17	SNP	0.001	A
LOC100631378	100631378	genome.wustl.edu	37	19	38324095	38324095	+	lincRNA	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:38324095G>T	ENST00000443870.1	+	0	5214				AC016582.2_ENST00000592640.1_lincRNA																							GAGACTCCCGGTATAGAGTCT	0.453																																																	0																																												0																															19.37:g.38324095G>T				RNA	SNP	-	NULL	ENST00000443870.1	37	NULL		19																																																																																			AC016582.2	-	-	ENSG00000225868		0.453	CTD-2554C21.3-001	KNOWN	basic	lincRNA	LOC100631378	Clone_based_vega_gene	lincRNA	OTTHUMT00000459795.1		0.00	46	0	G			38324095	-1			no_errors	ENST00000433142	ensembl	human	known	74_37	rna	6.52	43	3	SNP	0.000	T
SH3BP1	23616	genome.wustl.edu	37	22	38038868	38038868	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:38038868G>A	ENST00000357436.4	+	5	597				Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000495174.1_Intron|SH3BP1_ENST00000442465.2_Intron|SH3BP1_ENST00000336738.5_Intron|SH3BP1_ENST00000599616.1_Intron	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1						signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					TGAGGGCAGCGGGCGCCTGGA	0.612																																																	0													36.0	34.0	35.0					22																	38038868		2200	4293	6493	SO:0001627	intron_variant	0				CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.285-34G>A	22.37:g.38038868G>A			Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	RNA	SNP	-	NULL	ENST00000357436.4	37	NULL	CCDS13952.2	22																																																																																			Z83844.1	-	-	ENSG00000233360		0.612	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927051	Clone_based_vega_gene	protein_coding	OTTHUMT00000075884.4	-	0.00	69	0	G	NM_018957		38038868	-1	tier1	-	no_errors	ENST00000456099	ensembl	human	known	74_37	rna	40.32	37	25	SNP	0.000	A
LAMA1	284217	genome.wustl.edu	37	18	6956263	6956265	+	Intron	DEL	TTT	TTT	-	rs34931978|rs397859065	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:6956263_6956265delTTT	ENST00000389658.3	-	56	8188				RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GAATTGAATCTTTTTTTTTTTTT	0.335																																																	0																																										SO:0001627	intron_variant	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8094+369AAA>-	18.37:g.6956272_6956274delTTT				RNA	DEL	-	NULL	ENST00000389658.3	37	NULL	CCDS32787.1	18																																																																																			RP11-781P6.1	-	-	ENSG00000265069		0.335	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927188	Clone_based_vega_gene	protein_coding	OTTHUMT00000257369.1		0.00	13	0	TTT	NM_005559		6956265	+1	tier1		no_errors	ENST00000584722	ensembl	human	known	74_37	rna	44.44	5	4	DEL	0.001:0.001:0.000	-
ZNF529	57711	genome.wustl.edu	37	19	37068397	37068399	+	5'Flank	DEL	TTT	TTT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:37068397_37068399delTTT	ENST00000586458.1	-	0	2674				AC092295.7_ENST00000494214.2_RNA|AC092295.7_ENST00000592880.2_RNA|AC092295.7_ENST00000448373.2_RNA|AC092295.7_ENST00000475219.2_RNA	NR_027239.1		Q6P280	ZN529_HUMAN	zinc finger protein 529						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	Esophageal squamous(110;0.198)					TTGTACTCTCttttttttttttt	0.468																																																	0																																										SO:0001631	upstream_gene_variant	0			AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714		19.37:g.37068406_37068408delTTT	Exception_encountered		K7EKE1|Q9H731|Q9HCF7	RNA	DEL	-	NULL	ENST00000586458.1	37	NULL		19																																																																																			AC092295.7	-	-	ENSG00000233527		0.468	ZNF529-008	KNOWN	basic	processed_transcript	LOC101927599	Clone_based_vega_gene	protein_coding	OTTHUMT00000452734.1		0.00	32	0	TTT	NM_020951		37068399	+1	tier1		no_errors	ENST00000448373	ensembl	human	known	74_37	rna	10.53	17	2	DEL	0.124:0.125:0.126	-
PRPF31	26121	genome.wustl.edu	37	19	54628061	54628061	+	Intron	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:54628061delC	ENST00000321030.4	+	8	1204				PRPF31_ENST00000498612.1_Intron|PRPF31_ENST00000419967.1_Intron|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000391755.1_Intron	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31						mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CATGGCCCCTCCCCCGGCCCC	0.662																																																	0													47.0	43.0	44.0					19																	54628061		2203	4300	6503	SO:0001627	intron_variant	0			AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.855+26C>-	19.37:g.54628061delC			Q17RB4|Q8N7F9|Q9H271|Q9Y439	RNA	DEL	-	NULL	ENST00000321030.4	37	NULL	CCDS12879.1	19																																																																																			AC012314.8	-	-	ENSG00000237017		0.662	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101928780	Clone_based_vega_gene	protein_coding	OTTHUMT00000141417.2		0.00	88	0	C			54628061	-1	tier1		no_errors	ENST00000452097	ensembl	human	known	74_37	rna	33.33	44	22	DEL	0.000	-
TMEM26	219623	genome.wustl.edu	37	10	63212571	63212571	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:63212571G>A	ENST00000399298.3	-	1	560				TMEM26_ENST00000399293.1_Intron|RP11-809M12.1_ENST00000389640.4_RNA	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					TGCGGGTTGCGGGAAGATGGC	0.627																																																	0																																										SO:0001627	intron_variant	0			BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.191+77C>T	10.37:g.63212571G>A			Q6ZVM0|Q8IVN9	RNA	SNP	-	NULL	ENST00000399298.3	37	NULL	CCDS41530.1	10																																																																																			RP11-809M12.1	-	-	ENSG00000237233		0.627	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101928781	Clone_based_vega_gene	protein_coding	OTTHUMT00000359121.1	-	0.00	18	0	G	NM_178505		63212571	+1	tier1	-	no_errors	ENST00000389640	ensembl	human	known	74_37	rna	28.57	20	8	SNP	0.000	A
FLJ12825	440101	genome.wustl.edu	37	12	54474095	54474095	+	lincRNA	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:54474095C>T	ENST00000515617.1	+	0	311				RP11-834C11.7_ENST00000505259.2_RNA|RP11-834C11.6_ENST00000504891.1_lincRNA	NR_026655.1																						TCCAAACTCGCGAAGGAAAAT	0.502																																																	0																																												0																															12.37:g.54474095C>T				RNA	SNP	-	NULL	ENST00000515617.1	37	NULL		12																																																																																			RP11-834C11.7	-	-	ENSG00000250654		0.502	RP11-834C11.3-001	KNOWN	basic	lincRNA	LOC101928930	Clone_based_vega_gene	lincRNA	OTTHUMT00000358961.1	-	0.00	34	0	C			54474095	-1	tier1	-	no_errors	ENST00000505259	ensembl	human	known	74_37	rna	41.38	16	12	SNP	0.000	T
MTMR9	66036	genome.wustl.edu	37	8	11177526	11177529	+	Intron	DEL	TTTT	TTTT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:11177526_11177529delTTTT	ENST00000221086.3	+	9	1959				MTMR9_ENST00000526292.1_Intron|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9							cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CTAGCCACACTTTTTTTTTTTTTC	0.363																																																	0																																										SO:0001627	intron_variant	0			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1486+179TTTT>-	8.37:g.11177534_11177537delTTTT			B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	RNA	DEL	-	NULL	ENST00000221086.3	37	NULL	CCDS5979.1	8																																																																																			AF131216.6	-	-	ENSG00000246477		0.363	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101929290	Clone_based_vega_gene	protein_coding	OTTHUMT00000207307.2		0.00	22	0	TTTT	NM_015458		11177529	-1	tier1		no_errors	ENST00000498997	ensembl	human	known	74_37	rna	24.32	28	9	DEL	0.005:0.001:0.000:0.000	-
AL592284.1	0	genome.wustl.edu	37	1	144520891	144520891	+	3'UTR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:144520891C>T	ENST00000538264.1	+	0	906				RP11-640M9.1_ENST00000430014.1_RNA|RP11-640M9.1_ENST00000411941.1_RNA|RP11-640M9.1_ENST00000458262.1_RNA|RP11-640M9.1_ENST00000437785.1_RNA|RP11-640M9.1_ENST00000435404.1_RNA|RP11-640M9.1_ENST00000426786.1_RNA|RP11-640M9.1_ENST00000442509.1_RNA|RP11-640M9.1_ENST00000414344.1_RNA|RP11-640M9.1_ENST00000411760.1_RNA																							GAAGCAGCCGCTATTTCCACC	0.488																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000538264.1:c.*59C>T	1.37:g.144520891C>T				RNA	SNP	-	NULL	ENST00000538264.1	37	NULL		1																																																																																			RP11-640M9.1	-	-	ENSG00000236943		0.488	AL592284.1-201	NOVEL	basic|appris_principal	protein_coding	LOC101929438	Clone_based_vega_gene	protein_coding		-	0.00	75	0	C			144520891	-1	tier1	-	no_errors	ENST00000411760	ensembl	human	known	74_37	rna	83.05	10	49	SNP	1.000	T
POTEG	404785	genome.wustl.edu	37	14	19563232	19563232	+	Intron	SNP	T	T	C	rs572050981	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:19563232T>C	ENST00000409832.3	+	5	969				CTD-2311B13.5_ENST00000548748.1_lincRNA|RNU6-1239P_ENST00000391310.1_RNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G											cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCTTCCTTTTAACCTTGGTG	0.368													C|||	234	0.0467252	0.0371	0.0375	5008	,	,		9293	0.0575		0.0646	False		,,,				2504	0.0368																0																																										SO:0001627	intron_variant	0				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.918-172T>C	14.37:g.19563232T>C			A1L153|A6NMI9|Q6S5H6|Q6S8J2	RNA	SNP	-	NULL	ENST00000409832.3	37	NULL	CCDS32018.1	14																																																																																			CTD-2311B13.5	-	-	ENSG00000258252		0.368	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101929948	Clone_based_vega_gene	protein_coding	OTTHUMT00000408579.1	-	0.00	43	0	T	NM_001005356		19563232	-1	tier1	-	no_errors	ENST00000548748	ensembl	human	known	74_37	rna	55.29	38	47	SNP	0.050	C
TENC1	23371	genome.wustl.edu	37	12	53447261	53447261	+	Intron	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:53447261A>G	ENST00000314250.6	+	4	551				TENC1_ENST00000314276.3_Intron|TENC1_ENST00000549700.1_Intron|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000379902.3_Intron|RP11-983P16.4_ENST00000546793.1_RNA|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000552570.1_Intron|TENC1_ENST00000546602.1_Intron|TENC1_ENST00000451358.1_Intron	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)						cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TGGGGTGGGGAGGGCAAGGAA	0.612																																																	0													44.0	39.0	41.0					12																	53447261		2203	4300	6503	SO:0001627	intron_variant	0			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.261+28A>G	12.37:g.53447261A>G			A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	RNA	SNP	-	NULL	ENST00000314250.6	37	NULL	CCDS8843.1	12																																																																																			RP11-983P16.4	-	-	ENSG00000257337		0.612	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC283335	Clone_based_vega_gene	protein_coding	OTTHUMT00000405779.1	-	0.00	41	0	A	NM_170754		53447261	-1	tier1	-	no_errors	ENST00000546793	ensembl	human	known	74_37	rna	39.13	14	9	SNP	0.000	G
LOC283683	283683	genome.wustl.edu	37	15	23108668	23108668	+	RNA	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:23108668delA	ENST00000557922.1	-	0	378					NR_040057.1																						aattGTTACCAAAAAATACGA	0.284																																																	0																																												0																															15.37:g.23108668delA				RNA	DEL	-	NULL	ENST00000557922.1	37	NULL		15																																																																																			RP11-566K19.6	-	-	ENSG00000259344		0.284	RP11-566K19.6-003	KNOWN	basic	processed_transcript	LOC283683	Clone_based_vega_gene	pseudogene	OTTHUMT00000415896.1		0.00	84	0	A			23108668	-1	tier1		no_errors	ENST00000561063	ensembl	human	known	74_37	rna	33.82	45	23	DEL	0.058	-
LOC285556	285556	genome.wustl.edu	37	4	100573085	100573085	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:100573085G>A	ENST00000511828.1	-	1	2720	c.2721C>T	c.(2719-2721)aaC>aaT	p.N907N																								CAGGGCCTGCGTTGCGCTCGC	0.582																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000511828.1:c.2721C>T	4.37:g.100573085G>A				Silent	SNP	NULL	p.N907	ENST00000511828.1	37	c.2721		4																																																																																			RP11-766F14.2	-	NULL	ENSG00000248713		0.582	RP11-766F14.2-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	LOC285556	Clone_based_vega_gene	protein_coding	OTTHUMT00000365456.1	-	0.00	27	0	G			100573085	-1	tier1	-	no_errors	ENST00000511828	ensembl	human	putative	74_37	silent	54.55	10	12	SNP	0.000	A
OGFRP1	388906	genome.wustl.edu	37	22	42670108	42670108	+	lincRNA	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:42670108C>T	ENST00000332965.3	+	0	482				Z83851.4_ENST00000420096.2_lincRNA	NR_036498.1																						TCTTGGGAGGCGCCGCCTGCT	0.577																																																	0																																												0																															22.37:g.42670108C>T				RNA	SNP	-	NULL	ENST00000332965.3	37	NULL		22																																																																																			Z83851.3	-	-	ENSG00000182057		0.577	Z83851.3-001	KNOWN	basic	lincRNA	LOC388906	Clone_based_vega_gene	lincRNA	OTTHUMT00000319662.1	-	0.00	56	0	C			42670108	+1	tier1	-	no_errors	ENST00000332965	ensembl	human	known	74_37	rna	37.70	38	23	SNP	0.015	T
LOC400553	400553	genome.wustl.edu	37	16	88123704	88123704	+	lincRNA	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:88123704delC	ENST00000378417.1	-	0	1410				RP11-863P13.5_ENST00000568267.1_lincRNA|RP11-863P13.6_ENST00000566155.1_lincRNA																							AGACCTGAGACCCCCTCACCT	0.627																																																	0																																												0																															16.37:g.88123704delC				RNA	DEL	-	NULL	ENST00000378417.1	37	NULL		16																																																																																			RP11-863P13.4	-	-	ENSG00000205037		0.627	RP11-863P13.4-001	KNOWN	basic	lincRNA	LOC400553	Clone_based_vega_gene	lincRNA	OTTHUMT00000430445.1		0.00	50	0	C			88123704	-1	tier1		no_errors	ENST00000378417	ensembl	human	known	74_37	rna	22.58	24	7	DEL	0.233	-
LIAS	11019	genome.wustl.edu	37	4	39482010	39482010	+	IGR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:39482010C>T	ENST00000261434.3	+	0	1775				RP11-472B18.1_ENST00000513652.1_RNA	NM_006859.2	NP_006850.2			lipoic acid synthetase											breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						GATGCGCCGACGCCCCGAGCG	0.637																																																	0																																										SO:0001628	intergenic_variant	0			AJ224162	CCDS3453.1, CCDS3454.1, CCDS63950.1	4p14	2008-02-05			ENSG00000121897	ENSG00000121897			16429	protein-coding gene	gene with protein product		607031				11124703	Standard	NM_006859		Approved	LAS	uc003guf.3	O43766	OTTHUMG00000099369		4.37:g.39482010C>T				RNA	SNP	-	NULL	ENST00000261434.3	37	NULL	CCDS3453.1	4																																																																																			RP11-472B18.1	-	-	ENSG00000224097		0.637	LIAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC401127	Clone_based_vega_gene	protein_coding	OTTHUMT00000216815.1	-	0.00	24	0	C	NM_194451		39482010	+1	tier1	-	no_errors	ENST00000513652	ensembl	human	known	74_37	rna	23.81	16	5	SNP	0.001	T
PDPK1	5170	genome.wustl.edu	37	16	2653650	2653650	+	IGR	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:2653650G>A	ENST00000342085.4	+	0	7241				AC141586.5_ENST00000399702.1_RNA	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1						actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	TCACCACTGGGCAGACGCCGC	0.667																																																	0																																										SO:0001628	intergenic_variant	0			AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874		16.37:g.2653650G>A			H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	RNA	SNP	-	NULL	ENST00000342085.4	37	NULL	CCDS10472.1	16																																																																																			AC141586.5	-	-	ENSG00000215154		0.667	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC652276	Clone_based_vega_gene	protein_coding	OTTHUMT00000250831.3	-	0.00	98	0	G			2653650	+1	tier1	-	no_errors	ENST00000399702	ensembl	human	known	74_37	rna	37.14	44	26	SNP	1.000	A
LOC653712	653712	genome.wustl.edu	37	3	128584401	128584401	+	RNA	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:128584401A>G	ENST00000498297.1	-	0	523				RP11-723O4.2_ENST00000480931.1_RNA	NR_034179.1																						CACCACCTTCACCAGAAGCTC	0.557																																																	0																																												0																															3.37:g.128584401A>G				RNA	SNP	-	NULL	ENST00000498297.1	37	NULL		3																																																																																			RP11-723O4.2	-	-	ENSG00000231305		0.557	RP11-723O4.2-001	KNOWN	basic	antisense	LOC653712	Clone_based_vega_gene	antisense	OTTHUMT00000357491.1	-	0.00	31	0	A			128584401	-1	tier1	-	no_errors	ENST00000480931	ensembl	human	known	74_37	rna	36.84	24	14	SNP	0.168	G
LOC728715	728715	genome.wustl.edu	37	12	9727638	9727638	+	RNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:9727638G>A	ENST00000520314.1	+	0	6637																											ATCAACCTCCGTCTTCACAGA	0.378													.|||	4	0.000798722	0.0	0.0	5008	,	,		-128	0.004		0.0	False		,,,				2504	0.0																0																																												0																															12.37:g.9727638G>A				RNA	SNP	-	NULL	ENST00000520314.1	37	NULL		12																																																																																			RP11-726G1.1	-	-	ENSG00000214776		0.378	RP11-726G1.1-002	KNOWN	basic	processed_transcript	LOC728715	Clone_based_vega_gene	pseudogene	OTTHUMT00000381543.1		0.00	40	0	G			9727638	+1			no_errors	ENST00000520314	ensembl	human	known	74_37	rna	10.96	65	8	SNP	0.012	A
KIAA2012	100652824	genome.wustl.edu	37	2	202979799	202979800	+	Intron	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:202979799_202979800insT	ENST00000409515.3	+	11	2098				AC079354.1_ENST00000541917.1_Intron|AC079354.3_ENST00000409819.1_RNA|AC079354.1_ENST00000295844.3_Intron|AC079354.3_ENST00000584624.1_RNA																							ATAAGCAAAGATTTTTTTGGTT	0.356																																																	0																																										SO:0001627	intron_variant	0																														ENST00000409515.3:c.2098+1630->T	2.37:g.202979806_202979806dupT				RNA	INS	-	NULL	ENST00000409515.3	37	NULL		2																																																																																			AC079354.3	-	-	ENSG00000222035		0.356	AC079354.1-001	KNOWN	basic	processed_transcript	LOC729224	Clone_based_vega_gene	protein_coding	OTTHUMT00000336161.2		0.00	27	0	-			202979800	-1	tier1		no_errors	ENST00000409819	ensembl	human	known	74_37	rna	35.71	18	10	INS	0.000:0.000	T
LOXHD1	125336	genome.wustl.edu	37	18	44140248	44140248	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:44140248C>A	ENST00000398722.4	-	12	2024	c.2025G>T	c.(2023-2025)gaG>gaT	p.E675D	LOXHD1_ENST00000441893.2_5'Flank|LOXHD1_ENST00000441551.2_Intron|LOXHD1_ENST00000582408.1_5'Flank|LOXHD1_ENST00000536736.1_Missense_Mutation_p.E953D|LOXHD1_ENST00000300591.6_5'Flank			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	675	Glu-rich.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						Actcctcttcctccccctcgt	0.592																																																	0													106.0	102.0	103.0					18																	44140248		692	1591	2283	SO:0001583	missense	0			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.2025G>T	18.37:g.44140248C>A	ENSP00000381707:p.Glu675Asp		B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom	p.E953D	ENST00000398722.4	37	c.2859		18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.191|2.191	-0.385191|-0.385191	0.04966|0.04966	.|.	.|.	ENSG00000167210|ENSG00000167210	ENST00000398722;ENST00000536736;ENST00000335730|ENST00000441551	T;T|.	0.06528|.	3.31;3.29|.	4.69|4.69	-9.38|-9.38	0.00623|0.00623	.|.	1.563250|.	0.03839|.	N|.	0.270290|.	T|.	0.21103|.	0.0508|.	N|N	0.22421|0.22421	0.69|0.69	0.30695|0.30695	N|N	0.750907|0.750907	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|.	0.13150|.	-1.0520|.	10|.	0.12103|.	T|.	0.63|.	.|.	4.5607|4.5607	0.12160|0.12160	0.4992:0.3047:0.1101:0.086|0.4992:0.3047:0.1101:0.086	.|.	953;675|.	F5GZB4;Q8IVV2-2|.	.;.|.	D|X	675;953;675|934	ENSP00000381707:E675D;ENSP00000444586:E953D|.	ENSP00000338222:E675D|.	E|G	-|-	3|1	2|0	LOXHD1|LOXHD1	42394246|42394246	0.000000|0.000000	0.05858|0.05858	0.012000|0.012000	0.15200|0.15200	0.294000|0.294000	0.27393|0.27393	-3.584000|-3.584000	0.00423|0.00423	-2.303000|-2.303000	0.00656|0.00656	0.442000|0.442000	0.29010|0.29010	GAG|GGA	LOXHD1	-	NULL	ENSG00000167210		0.592	LOXHD1-201	KNOWN	basic	protein_coding	LOXHD1	HGNC	protein_coding		-	0.00	30	0	C	NM_144612		44140248	-1	tier1	-	no_errors	ENST00000536736	ensembl	human	known	74_37	missense	47.50	21	19	SNP	0.007	A
LOXL2	4017	genome.wustl.edu	37	8	23225572	23225572	+	Missense_Mutation	SNP	C	C	T	rs138761125	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:23225572C>T	ENST00000389131.3	-	2	662	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	98	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCCCAGCTCCCGGCAGACGAC	0.617																																																	0								C	GLN/ARG	0,4406		0,0,2203	82.0	63.0	70.0		293	5.6	1.0	8	dbSNP_134	70	3,8597	3.0+/-9.4	0,3,4297	yes	missense	LOXL2	NM_002318.2	43	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging	98/775	23225572	3,13003	2203	4300	6503	SO:0001583	missense	0			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.293G>A	8.37:g.23225572C>T	ENSP00000373783:p.Arg98Gln		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.R98Q	ENST00000389131.3	37	c.293	CCDS34864.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.500552	0.96355	0.0	3.49E-4	ENSG00000134013	ENST00000389131;ENST00000524144;ENST00000520871;ENST00000518083;ENST00000524168	T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08	5.55	5.55	0.83447	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.69477	0.3115	M	0.84511	2.7	0.53688	D	0.999979	D	0.89917	1.0	D	0.74674	0.984	T	0.73886	-0.3841	10	0.87932	D	0	.	18.4111	0.90550	0.0:1.0:0.0:0.0	.	98	Q9Y4K0	LOXL2_HUMAN	Q	98;179;139;98;98	ENSP00000373783:R98Q;ENSP00000427883:R179Q;ENSP00000429778:R139Q;ENSP00000430519:R98Q;ENSP00000428497:R98Q	ENSP00000373783:R98Q	R	-	2	0	LOXL2	23281517	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.793000	0.62474	2.764000	0.94973	0.563000	0.77884	CGG	LOXL2	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR	ENSG00000134013		0.617	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL2	HGNC	protein_coding	OTTHUMT00000375603.1	-	0.00	41	0	C			23225572	-1	tier1	rs138761125	no_errors	ENST00000389131	ensembl	human	known	74_37	missense	28.57	30	12	SNP	1.000	T
LPAL2	80350	genome.wustl.edu	37	6	160887595	160887595	+	RNA	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:160887595delT	ENST00000335388.5	-	0	2041					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GTGGCTTACAtttttttttat	0.398																																																	0																																												0			U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160887595delT			E1P5B4	RNA	DEL	-	NULL	ENST00000335388.5	37	NULL		6																																																																																			LPAL2	-	-	ENSG00000213071		0.398	LPAL2-003	KNOWN	basic	processed_transcript	LPAL2	HGNC	pseudogene	OTTHUMT00000042950.1		0.00	13	0	T	NM_024492		160887595	-1	tier1		no_errors	ENST00000606083	ensembl	human	known	74_37	rna	54.55	5	6	DEL	0.621	-
LPAR1	1902	genome.wustl.edu	37	9	113704388	113704388	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:113704388G>T	ENST00000374431.3	-	4	489	c.106C>A	c.(106-108)Cga>Aga	p.R36R	LPAR1_ENST00000541779.1_Silent_p.R37R|LPAR1_ENST00000538760.1_Silent_p.R37R|LPAR1_ENST00000374430.2_Silent_p.R36R|LPAR1_ENST00000358883.4_Silent_p.R36R	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	36					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TTTCCACTTCGGTTATAAAAG	0.418																																					NSCLC(115;661 2323 9836 34256)												0													99.0	86.0	91.0					9																	113704388		2203	4300	6503	SO:0001819	synonymous_variant	0			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.106C>A	9.37:g.113704388G>T			B4DK36|O00656|O00722|P78351	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn	p.R37	ENST00000374431.3	37	c.109	CCDS6777.1	9																																																																																			LPAR1	-	NULL	ENSG00000198121		0.418	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR1	HGNC	protein_coding	OTTHUMT00000053631.1	-	0.00	48	0	G	NM_057159		113704388	-1	tier1	-	no_errors	ENST00000538760	ensembl	human	known	74_37	silent	43.33	17	13	SNP	1.000	T
LPHN3	23284	genome.wustl.edu	37	4	62812670	62812670	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:62812670G>T	ENST00000514591.1	+	15	2583	c.2254G>T	c.(2254-2256)Ggt>Tgt	p.G752C	LPHN3_ENST00000506720.1_Missense_Mutation_p.G820C|LPHN3_ENST00000508693.1_Missense_Mutation_p.G820C|LPHN3_ENST00000507164.1_Missense_Mutation_p.G820C|LPHN3_ENST00000512091.2_Missense_Mutation_p.G752C|LPHN3_ENST00000507625.1_Missense_Mutation_p.G820C|LPHN3_ENST00000511324.1_Missense_Mutation_p.G820C|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000504896.1_Missense_Mutation_p.G752C|LPHN3_ENST00000509896.1_Missense_Mutation_p.G820C|LPHN3_ENST00000514157.1_Missense_Mutation_p.G752C|LPHN3_ENST00000514996.1_Missense_Mutation_p.G752C|LPHN3_ENST00000506746.1_Missense_Mutation_p.G820C|LPHN3_ENST00000508946.1_Missense_Mutation_p.G752C|LPHN3_ENST00000545650.1_Missense_Mutation_p.G752C|LPHN3_ENST00000506700.1_Missense_Mutation_p.G752C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	739					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TAACAACTTGGGTCCTTATTT	0.393																																																	0													261.0	243.0	249.0					4																	62812670		1877	4117	5994	SO:0001583	missense	0			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2254G>T	4.37:g.62812670G>T	ENSP00000422533:p.Gly752Cys		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.G820C	ENST00000514591.1	37	c.2458	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.971556|4.971556	0.92919|0.92919	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.22539|.	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95|.	5.51|5.51	5.51|5.51	0.81932|0.81932	Domain of unknown function DUF3497 (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.75064|0.75064	0.3799|0.3799	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.73222|0.73222	-0.4051|-0.4051	10|6	0.87932|.	D|.	0|.	.|.	19.4278|19.4278	0.94751|0.94751	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	752;739;752|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	C|V	752;752;820;820;752;752;739;752;820;820;820;752;752;752;820;820;752|209	ENSP00000423388:G752C;ENSP00000422533:G752C;ENSP00000423787:G820C;ENSP00000425033:G820C;ENSP00000424120:G752C;ENSP00000439831:G752C;ENSP00000421476:G820C;ENSP00000424030:G820C;ENSP00000421372:G820C;ENSP00000425201:G752C;ENSP00000423434:G752C;ENSP00000421627:G752C;ENSP00000420931:G820C;ENSP00000425884:G820C;ENSP00000424258:G752C|.	ENSP00000280009:G752C|.	G|G	+|+	1|2	0|0	LPHN3|LPHN3	62495265|62495265	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	8.007000|8.007000	0.88571|0.88571	2.595000|2.595000	0.87683|0.87683	0.557000|0.557000	0.71058|0.71058	GGT|GGG	LPHN3	-	pfam_DUF3497	ENSG00000150471		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	-	0.00	129	0	G			62812670	+1	tier1	-	no_errors	ENST00000507625	ensembl	human	known	74_37	missense	7.56	110	9	SNP	1.000	T
LPIN3	64900	genome.wustl.edu	37	20	39977440	39977440	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:39977440T>C	ENST00000373257.3	+	4	561	c.470T>C	c.(469-471)gTg>gCg	p.V157A		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	157					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GAGGATGCAGTGGCAACTGAT	0.617																																																	0													49.0	46.0	47.0					20																	39977440		2203	4300	6503	SO:0001583	missense	0			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.470T>C	20.37:g.39977440T>C	ENSP00000362354:p.Val157Ala		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.V157A	ENST00000373257.3	37	c.470	CCDS33469.1	20	.	.	.	.	.	.	.	.	.	.	T	0.616	-0.823145	0.02755	.	.	ENSG00000132793	ENST00000373257	T	0.79940	-1.32	3.55	1.12	0.20585	.	1.482540	0.04817	N	0.436303	T	0.71187	0.3310	L	0.41236	1.265	0.09310	N	1	B;B	0.15930	0.002;0.015	B;B	0.14578	0.007;0.011	T	0.50048	-0.8873	9	.	.	.	-1.2461	4.383	0.11304	0.0:0.1114:0.201:0.6876	.	157;157	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	A	157	ENSP00000362354:V157A	.	V	+	2	0	LPIN3	39410854	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-0.144000	0.10280	0.086000	0.17137	0.533000	0.62120	GTG	LPIN3	-	NULL	ENSG00000132793		0.617	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LPIN3	HGNC	protein_coding	OTTHUMT00000080393.1	-	0.00	28	0	T	NM_022896		39977440	+1	tier1	-	no_errors	ENST00000373257	ensembl	human	known	74_37	missense	40.00	15	10	SNP	0.004	C
LRBA	987	genome.wustl.edu	37	4	151765309	151765309	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:151765309G>T	ENST00000357115.3	-	28	4755	c.4512C>A	c.(4510-4512)gaC>gaA	p.D1504E	LRBA_ENST00000535741.1_Missense_Mutation_p.D1504E|LRBA_ENST00000510413.1_Missense_Mutation_p.D1504E|LRBA_ENST00000507224.1_Missense_Mutation_p.D1504E	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1504						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTAGAAGCCTGTCAAGATCTC	0.338																																																	0													110.0	110.0	110.0					4																	151765309		2203	4300	6503	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4512C>A	4.37:g.151765309G>T	ENSP00000349629:p.Asp1504Glu		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.D1504E	ENST00000357115.3	37	c.4512	CCDS3773.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.21|10.21	1.286513|1.286513	0.23478|0.23478	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224;ENST00000502839|ENST00000509835	T;T;T;T|.	0.54866|.	0.99;1.14;0.99;0.55|.	5.48|5.48	1.76|1.76	0.24704|0.24704	.|.	0.111637|.	0.64402|.	N|.	0.000015|.	T|T	0.42810|0.42810	0.1219|0.1219	L|L	0.31157|0.31157	0.91|0.91	0.46222|0.46222	D|D	0.998939|0.998939	B;B|.	0.15141|.	0.003;0.012|.	B;B|.	0.14023|.	0.004;0.01|.	T|T	0.11591|0.11591	-1.0581|-1.0581	10|5	0.13108|.	T|.	0.6|.	.|.	8.4157|8.4157	0.32670|0.32670	0.196:0.1132:0.6908:0.0|0.196:0.1132:0.6908:0.0	.|.	1504;1504|.	P50851;P50851-2|.	LRBA_HUMAN;.|.	E|K	1504;1504;1504;1504;81|157	ENSP00000446299:D1504E;ENSP00000421552:D1504E;ENSP00000349629:D1504E;ENSP00000422180:D1504E|.	ENSP00000349629:D1504E|.	D|T	-|-	3|2	2|0	LRBA|LRBA	151984759|151984759	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.952000|0.952000	0.60782|0.60782	3.315000|3.315000	0.51951|0.51951	0.364000|0.364000	0.24374|0.24374	-0.300000|-0.300000	0.09419|0.09419	GAC|ACA	LRBA	-	NULL	ENSG00000198589		0.338	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	-	0.00	60	0	G			151765309	-1	tier1	-	no_errors	ENST00000357115	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
LRAT	9227	genome.wustl.edu	37	4	155665742	155665742	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:155665742G>A	ENST00000336356.3	+	2	517	c.264G>A	c.(262-264)acG>acA	p.T88T	LRAT_ENST00000507827.1_Silent_p.T88T	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	88					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TGGGGCGCACGCAGAAGGTGG	0.582																																																	0													73.0	73.0	73.0					4																	155665742		2203	4300	6503	SO:0001819	synonymous_variant	0			AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.264G>A	4.37:g.155665742G>A			A8K983|Q8N716	Silent	SNP	pfam_LRAT-like_dom	p.T88	ENST00000336356.3	37	c.264	CCDS3789.1	4																																																																																			LRAT	-	NULL	ENSG00000121207		0.582	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRAT	HGNC	protein_coding	OTTHUMT00000365246.1	-	0.00	25	0	G	NM_004744		155665742	+1	tier1	-	no_errors	ENST00000336356	ensembl	human	known	74_37	silent	57.89	7	11	SNP	0.090	A
LRG1	116844	genome.wustl.edu	37	19	4538425	4538425	+	Missense_Mutation	SNP	G	G	A	rs374325546		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4538425G>A	ENST00000306390.6	-	2	1031	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	191					brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAGGGTGCGCAGGAGGGTG	0.602																																																	0								G	CYS/ARG	1,4405		0,1,2202	118.0	131.0	127.0		571	4.9	0.9	19		127	0,8600		0,0,4300	no	missense	LRG1	NM_052972.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	191/348	4538425	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.571C>T	19.37:g.4538425G>A	ENSP00000302621:p.Arg191Cys		Q8N4F5|Q96QZ4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R191C	ENST00000306390.6	37	c.571	CCDS12130.1	19	.	.	.	.	.	.	.	.	.	.	.	15.61	2.883995	0.51908	2.27E-4	0.0	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.02709	4.19	4.93	4.93	0.64822	.	1.085560	0.07213	N	0.859511	T	0.20820	0.0501	M	0.92268	3.29	0.42084	D	0.991265	D	0.76494	0.999	P	0.60682	0.878	T	0.00415	-1.1753	10	0.56958	D	0.05	-9.6951	13.494	0.61414	0.0:0.0:1.0:0.0	.	191	P02750	A2GL_HUMAN	C	191;174	ENSP00000302621:R191C	ENSP00000302621:R191C	R	-	1	0	LRG1	4489425	0.024000	0.19004	0.949000	0.38748	0.363000	0.29612	0.253000	0.18296	2.564000	0.86499	0.655000	0.94253	CGC	LRG1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000171236		0.602	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRG1	HGNC	protein_coding	OTTHUMT00000458654.2	-	0.00	59	0	G	NM_052972		4538425	-1	tier1	-	no_errors	ENST00000306390	ensembl	human	known	74_37	missense	50.00	27	27	SNP	0.885	A
LRIG2	9860	genome.wustl.edu	37	1	113661870	113661870	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:113661870G>A	ENST00000361127.5	+	17	2894	c.2696G>A	c.(2695-2697)cGg>cAg	p.R899Q	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	899					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		ACTGGTACCCGGGTGATTTGC	0.393																																																	0													117.0	112.0	114.0					1																	113661870		2203	4300	6503	SO:0001583	missense	0			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2696G>A	1.37:g.113661870G>A	ENSP00000355396:p.Arg899Gln		Q9NSN2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R899Q	ENST00000361127.5	37	c.2696	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.379918	0.42207	.	.	ENSG00000198799	ENST00000361127	T	0.60920	0.15	5.22	4.24	0.50183	.	0.082593	0.47455	D	0.000224	T	0.25419	0.0618	L	0.38531	1.155	0.28956	N	0.890117	B	0.26318	0.146	B	0.12156	0.007	T	0.03306	-1.1050	10	0.21540	T	0.41	.	11.5623	0.50785	0.0:0.0:0.6523:0.3477	.	899	O94898	LRIG2_HUMAN	Q	899	ENSP00000355396:R899Q	ENSP00000355396:R899Q	R	+	2	0	LRIG2	113463393	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.964000	0.70379	2.585000	0.87301	0.655000	0.94253	CGG	LRIG2	-	NULL	ENSG00000198799		0.393	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	-	0.00	56	0	G	NM_014813		113661870	+1	tier1	-	no_errors	ENST00000361127	ensembl	human	known	74_37	missense	37.70	38	23	SNP	1.000	A
LRIT2	340745	genome.wustl.edu	37	10	85984820	85984820	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:85984820G>T	ENST00000372113.4	-	2	166	c.161C>A	c.(160-162)tCt>tAt	p.S54Y	LRIT2_ENST00000538192.1_Missense_Mutation_p.S54Y	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	54	LRRNT.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GAACTCTTCAGAAAGGTTCCC	0.438																																																	0													65.0	72.0	70.0					10																	85984820		2193	4295	6488	SO:0001583	missense	0				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.161C>A	10.37:g.85984820G>T	ENSP00000361185:p.Ser54Tyr		B7ZME6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S54Y	ENST00000372113.4	37	c.161	CCDS31234.1	10	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721607	0.30503	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.54675	0.56;0.56	5.71	2.89	0.33648	Leucine-rich repeat-containing N-terminal (1);	0.393157	0.28273	N	0.015956	T	0.27278	0.0669	N	0.08118	0	0.20307	N	0.999917	P;B	0.45283	0.855;0.347	B;B	0.34652	0.187;0.087	T	0.11842	-1.0571	10	0.72032	D	0.01	.	10.047	0.42192	0.221:0.0:0.779:0.0	.	54;54	B7ZME6;A6NDA9	.;LRIT2_HUMAN	Y	54	ENSP00000361185:S54Y;ENSP00000438264:S54Y	ENSP00000361185:S54Y	S	-	2	0	LRIT2	85974800	0.998000	0.40836	0.264000	0.24511	0.677000	0.39632	2.636000	0.46545	0.360000	0.24265	0.585000	0.79938	TCT	LRIT2	-	NULL	ENSG00000204033		0.438	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT2	HGNC	protein_coding	OTTHUMT00000049110.4	-	0.00	27	0	G	XM_291697		85984820	-1	tier1	-	no_errors	ENST00000538192	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.723	T
LRP1	4035	genome.wustl.edu	37	12	57605984	57605984	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:57605984C>T	ENST00000243077.3	+	88	13900	c.13434C>T	c.(13432-13434)ggC>ggT	p.G4478G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4478	Interaction with MAFB. {ECO:0000250}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTACGAAGGCGGAGAGCCTG	0.617																																																	0													70.0	66.0	67.0					12																	57605984		2203	4300	6503	SO:0001819	synonymous_variant	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13434C>T	12.37:g.57605984C>T			Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G4478	ENST00000243077.3	37	c.13434	CCDS8932.1	12																																																																																			LRP1	-	NULL	ENSG00000123384		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	-	0.00	15	0	C	NM_002332		57605984	+1	tier1	-	no_errors	ENST00000243077	ensembl	human	known	74_37	silent	44.44	10	8	SNP	0.845	T
LRP10	26020	genome.wustl.edu	37	14	23346171	23346171	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:23346171G>A	ENST00000359591.4	+	7	2268	c.1577G>A	c.(1576-1578)cGt>cAt	p.R526H	LRP10_ENST00000470660.1_3'UTR|LRP10_ENST00000546834.1_Missense_Mutation_p.R526H	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	526					endocytosis (GO:0006897)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R526H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GGCAACCTGCGTTCTCTGCTA	0.622																																																	1	Substitution - Missense(1)	large_intestine(1)											63.0	58.0	60.0					14																	23346171		2203	4300	6503	SO:0001583	missense	0			AF131760	CCDS9578.1	14q11.2	2013-05-29			ENSG00000197324	ENSG00000197324		"""Low density lipoprotein receptors"""	14553	protein-coding gene	gene with protein product		609921				11123907	Standard	XM_005267510		Approved	DKFZP564C1940, MGC8675, LRP9, MST087, MSTP087	uc001whd.3	Q7Z4F1	OTTHUMG00000028705	ENST00000359591.4:c.1577G>A	14.37:g.23346171G>A	ENSP00000352601:p.Arg526His		A8K4R5|D3DS31|O95882|Q14CK7|Q86T02|Q8NCZ4|Q9HC42|Q9UG33	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.R526H	ENST00000359591.4	37	c.1577	CCDS9578.1	14	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212288	0.79240	.	.	ENSG00000197324	ENST00000359591;ENST00000546834	D;D	0.96459	-3.96;-4.02	5.13	5.13	0.70059	.	0.056744	0.64402	D	0.000001	D	0.97542	0.9195	M	0.62723	1.935	0.51767	D	0.999938	D	0.89917	1.0	D	0.83275	0.996	D	0.98136	1.0433	10	0.87932	D	0	-13.9664	15.8424	0.78861	0.0:0.0:1.0:0.0	.	526	Q7Z4F1	LRP10_HUMAN	H	526	ENSP00000352601:R526H;ENSP00000447559:R526H	ENSP00000352601:R526H	R	+	2	0	LRP10	22416011	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.853000	0.75435	2.557000	0.86248	0.563000	0.77884	CGT	LRP10	-	NULL	ENSG00000197324		0.622	LRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP10	HGNC	protein_coding	OTTHUMT00000071663.3	-	0.00	63	0	G			23346171	+1	tier1	-	no_errors	ENST00000359591	ensembl	human	known	74_37	missense	38.30	29	18	SNP	1.000	A
LRP12	29967	genome.wustl.edu	37	8	105501486	105501487	+	3'UTR	INS	-	-	A	rs529939714	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:105501486_105501487insA	ENST00000276654.5	-	0	4102_4103				LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_3'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTCAAGGCAATAAAAAAAATCA	0.277																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.*1415->T	8.37:g.105501494_105501494dupA			A8K137|B4DRQ2	RNA	INS	-	NULL	ENST00000276654.5	37	NULL	CCDS6303.1	8																																																																																			LRP12	-	-	ENSG00000147650		0.277	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1		0.00	22	0	-	NM_013437		105501487	-1	tier1		no_errors	ENST00000518375	ensembl	human	putative	74_37	rna	16.28	36	7	INS	1.000:1.000	A
LRP12	29967	genome.wustl.edu	37	8	105502452	105502452	+	3'UTR	DEL	T	T	-	rs140959749	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:105502452delT	ENST00000276654.5	-	0	3137				LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_3'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGTATAAGGGTTTTTTTTTTG	0.279																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.*449A>-	8.37:g.105502452delT			A8K137|B4DRQ2	RNA	DEL	-	NULL	ENST00000276654.5	37	NULL	CCDS6303.1	8																																																																																			LRP12	-	-	ENSG00000147650		0.279	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1		0.00	39	0	T	NM_013437		105502452	-1	tier1		no_errors	ENST00000518375	ensembl	human	putative	74_37	rna	70.51	23	55	DEL	0.000	-
LRP12	29967	genome.wustl.edu	37	8	105509429	105509429	+	Frame_Shift_Del	DEL	A	A	-	rs35928649		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:105509429delA	ENST00000276654.5	-	5	1459	c.1351delT	c.(1351-1353)tgcfs	p.C451fs	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Frame_Shift_Del_p.C432fs	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	451	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCTGGTTGGCAAAAAAAGCAG	0.408																																																	0													95.0	92.0	93.0					8																	105509429		2203	4300	6503	SO:0001589	frameshift_variant	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1351delT	8.37:g.105509429delA	ENSP00000276654:p.Cys451fs		A8K137|B4DRQ2	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.C432fs	ENST00000276654.5	37	c.1294	CCDS6303.1	8																																																																																			LRP12	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000147650		0.408	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1		0.00	90	0	A	NM_013437		105509429	-1	tier1		no_errors	ENST00000424843	ensembl	human	known	74_37	frame_shift_del	48.62	56	53	DEL	1.000	-
LRP1B	53353	genome.wustl.edu	37	2	141201960	141201960	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:141201960T>C	ENST00000389484.3	-	65	11204	c.10233A>G	c.(10231-10233)ccA>ccG	p.P3411P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3411	LDL-receptor class A 23. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTAAGTTTACTGGGATACATT	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													204.0	189.0	194.0					2																	141201960		2203	4300	6503	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10233A>G	2.37:g.141201960T>C			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.P3411	ENST00000389484.3	37	c.10233	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	64	0	T	NM_018557		141201960	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	silent	33.77	51	26	SNP	0.010	C
LRP1B	53353	genome.wustl.edu	37	2	141259309	141259309	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:141259309T>C	ENST00000389484.3	-	55	9768	c.8797A>G	c.(8797-8799)Aag>Gag	p.K2933E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2933	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGACTTTCTTACTCAAACAT	0.413										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													120.0	123.0	122.0					2																	141259309		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8797A>G	2.37:g.141259309T>C	ENSP00000374135:p.Lys2933Glu		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.K2933E	ENST00000389484.3	37	c.8797	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	13.04	2.118901	0.37436	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.87256	-2.23	5.71	4.52	0.55395	Growth factor, receptor (1);EGF-like calcium-binding (1);	0.167425	0.39475	U	0.001350	T	0.67859	0.2938	N	0.03608	-0.345	0.28059	N	0.93307	B	0.27853	0.191	B	0.23852	0.049	T	0.56372	-0.7990	10	0.02654	T	1	.	12.7896	0.57526	0.0:0.0:0.137:0.863	.	2933	Q9NZR2	LRP1B_HUMAN	E	2933;2871	ENSP00000374135:K2933E	ENSP00000374135:K2933E	K	-	1	0	LRP1B	140975779	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.806000	0.47947	0.963000	0.38082	0.477000	0.44152	AAG	LRP1B	-	superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000168702		0.413	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	57	0	T	NM_018557		141259309	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	39.58	29	19	SNP	1.000	C
LRP1B	53353	genome.wustl.edu	37	2	141946015	141946015	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:141946015C>T	ENST00000389484.3	-	7	1959	c.988G>A	c.(988-990)Gca>Aca	p.A330T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	330					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTGCTATTGCTTTAGGATTG	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													92.0	87.0	89.0					2																	141946015		2203	4300	6503	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.988G>A	2.37:g.141946015C>T	ENSP00000374135:p.Ala330Thr		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.A330T	ENST00000389484.3	37	c.988	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988177	0.93106	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97138	-4.26	5.2	4.32	0.51571	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.079008	0.49305	U	0.000153	D	0.97688	0.9242	M	0.88377	2.95	0.41912	D	0.990471	P	0.48016	0.904	P	0.48598	0.583	D	0.97747	1.0212	10	0.59425	D	0.04	.	15.8206	0.78638	0.0:0.8636:0.1364:0.0	.	330	Q9NZR2	LRP1B_HUMAN	T	330;268	ENSP00000374135:A330T	ENSP00000374135:A330T	A	-	1	0	LRP1B	141662485	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.988000	0.70579	1.162000	0.42619	-0.165000	0.13383	GCA	LRP1B	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt	ENSG00000168702		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	-	0.00	21	0	C	NM_018557		141946015	-1	tier1	-	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	53.85	12	14	SNP	1.000	T
LRRC16B	90668	genome.wustl.edu	37	14	24529193	24529193	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:24529193G>T	ENST00000342740.5	+	23	2037	c.1883G>T	c.(1882-1884)cGc>cTc	p.R628L	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	628						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)		CACACGCTGCGCTTCATGTCC	0.652																																																	0													147.0	126.0	133.0					14																	24529193		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.1883G>T	14.37:g.24529193G>T	ENSP00000340467:p.Arg628Leu		Q8TEF7|Q96HS9	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R628L	ENST00000342740.5	37	c.1883	CCDS32054.1	14	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600733	0.66332	.	.	ENSG00000186648	ENST00000342740	T	0.53857	0.6	4.52	4.52	0.55395	.	0.069948	0.64402	D	0.000014	T	0.46983	0.1421	L	0.55743	1.74	0.80722	D	1	P	0.52842	0.956	B	0.39617	0.305	T	0.53892	-0.8374	10	0.45353	T	0.12	-14.8464	14.7808	0.69766	0.0:0.0:1.0:0.0	.	628	Q8ND23	LR16B_HUMAN	L	628	ENSP00000340467:R628L	ENSP00000340467:R628L	R	+	2	0	LRRC16B	23599033	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.906000	0.48735	2.331000	0.79229	0.561000	0.74099	CGC	LRRC16B	-	NULL	ENSG00000186648		0.652	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRC16B	HGNC	protein_coding	OTTHUMT00000416527.1	-	0.00	73	0	G	NM_138360		24529193	+1	tier1	-	no_errors	ENST00000342740	ensembl	human	known	74_37	missense	37.14	22	13	SNP	1.000	T
LRRC24	441381	genome.wustl.edu	37	8	145748682	145748682	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:145748682delG	ENST00000529415.2	-	5	836	c.719delC	c.(718-720)ccgfs	p.P240fs	LRRC14_ENST00000528528.1_3'UTR|LRRC24_ENST00000533758.1_Frame_Shift_Del_p.P237fs|LRRC14_ENST00000292524.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	240	LRRCT.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGCCAGGCGCGGGGGCTCTGC	0.662																																																	0													22.0	21.0	21.0					8																	145748682		2192	4295	6487	SO:0001589	frameshift_variant	0			AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"""Immunoglobulin superfamily / I-set domain containing"""	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.719delC	8.37:g.145748682delG	ENSP00000434849:p.Pro240fs			Frame_Shift_Del	DEL	pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.P240fs	ENST00000529415.2	37	c.719	CCDS34969.1	8																																																																																			LRRC24	-	smart_Cys-rich_flank_reg_C	ENSG00000254402		0.662	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC24	HGNC	protein_coding	OTTHUMT00000382501.2		0.00	56	0	G	NM_001024678		145748682	-1	tier1		no_errors	ENST00000529415	ensembl	human	known	74_37	frame_shift_del	26.88	68	25	DEL	0.998	-
LRRC37A2	474170	genome.wustl.edu	37	17	44632696	44632696	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:44632696T>C	ENST00000576629.1	+	14	5455	c.4960T>C	c.(4960-4962)Tac>Cac	p.Y1654H	ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000336125.5_3'UTR|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.Y1654H			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1654						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TAAAGATATGTACAAACCTCT	0.423																																																	0													110.0	179.0	156.0					17																	44632696		2052	4155	6207	SO:0001583	missense	0			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4960T>C	17.37:g.44632696T>C	ENSP00000459551:p.Tyr1654His		B7ZMC3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.Y1654H	ENST00000576629.1	37	c.4960	CCDS42353.1	17	.	.	.	.	.	.	.	.	.	.	t	11.43	1.635949	0.29068	.	.	ENSG00000238083	ENST00000333412	T	0.63580	-0.05	2.28	-0.264	0.12950	.	.	.	.	.	T	0.67183	0.2866	L	0.46157	1.445	0.09310	N	1	D;D	0.76494	0.999;0.971	D;P	0.76071	0.987;0.641	T	0.55003	-0.8208	9	0.87932	D	0	.	4.7611	0.13108	0.0:0.3252:0.0:0.6748	.	615;1654	B3KRJ4;A6NM11	.;L37A2_HUMAN	H	1654	ENSP00000333071:Y1654H	ENSP00000333071:Y1654H	Y	+	1	0	LRRC37A2	41988012	0.006000	0.16342	0.000000	0.03702	0.046000	0.14306	0.748000	0.26305	-0.082000	0.12640	0.128000	0.15822	TAC	LRRC37A2	-	NULL	ENSG00000238083		0.423	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	HGNC	protein_coding	OTTHUMT00000440299.2	-	0.00	61	0	T	NM_001006607		44632696	+1	tier1	-	no_errors	ENST00000333412	ensembl	human	known	74_37	missense	81.54	11	53	SNP	0.000	C
LRRC37A3	374819	genome.wustl.edu	37	17	62855814	62855814	+	Missense_Mutation	SNP	C	C	T	rs369687044		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:62855814C>T	ENST00000584306.1	-	11	4980	c.4450G>A	c.(4450-4452)Gtt>Att	p.V1484I	LRRC37A3_ENST00000339474.5_Missense_Mutation_p.V602I|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.V461I|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.V522I|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.V1484I	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1484						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTGGGGATAACGGACTGCAGC	0.532																																																	0								G	ILE/VAL	0,4406		0,0,2203	266.0	267.0	267.0		4450	1.5	0.0	17		267	1,8599		0,1,4299	no	missense	LRRC37A3	NM_199340.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1484/1635	62855814	1,13005	2203	4300	6503	SO:0001583	missense	0			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4450G>A	17.37:g.62855814C>T	ENSP00000464535:p.Val1484Ile		Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V1484I	ENST00000584306.1	37	c.4450	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	2.432	-0.330667	0.05314	0.0	1.16E-4	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.43688	0.94;0.94;0.94	2.57	1.53	0.23141	.	.	.	.	.	T	0.23370	0.0565	N	0.14661	0.345	0.09310	N	1	B;B	0.16802	0.017;0.019	B;B	0.08055	0.001;0.003	T	0.19844	-1.0293	9	0.72032	D	0.01	.	4.972	0.14121	0.0:0.2375:0.5187:0.2438	.	602;1484	B4DG20;O60309	.;L37A3_HUMAN	I	565;522;461;1484	ENSP00000383674:V522I;ENSP00000335617:V461I;ENSP00000325713:V1484I	ENSP00000325713:V1484I	V	-	1	0	LRRC37A3	60286276	0.586000	0.26782	0.019000	0.16419	0.001000	0.01503	0.446000	0.21694	0.005000	0.14708	-1.122000	0.02009	GTT	LRRC37A3	-	NULL	ENSG00000176809		0.532	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	-	0.00	157	0	C	NM_199340		62855814	-1	tier1	-	no_errors	ENST00000319651	ensembl	human	known	74_37	missense	33.33	118	59	SNP	0.100	T
LRRC37A7P	100421589	genome.wustl.edu	37	18	29304406	29304406	+	RNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:29304406G>A	ENST00000583900.1	+	0	246									leucine rich repeat containing 37, member A7, pseudogene																		GCGAATCGCCGCCATGAGCTA	0.637																																																	0																																												0					18q12.1	2013-05-14			ENSG00000265158	ENSG00000265158			43792	pseudogene	pseudogene							Standard	NG_026286		Approved				OTTHUMG00000179653		18.37:g.29304406G>A				RNA	SNP	-	NULL	ENST00000583900.1	37	NULL		18																																																																																			LRRC37A7P	-	-	ENSG00000265158		0.637	LRRC37A7P-002	KNOWN	basic	processed_transcript	LRRC37A7P	HGNC	pseudogene	OTTHUMT00000447520.1	-	0.00	23	0	G	NG_026286		29304406	+1	tier1	-	no_errors	ENST00000583900	ensembl	human	known	74_37	rna	50.00	10	10	SNP	0.004	A
LRRC48	83450	genome.wustl.edu	37	17	17891352	17891352	+	Silent	SNP	C	C	T	rs376256002		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:17891352C>T	ENST00000399187.1	+	5	602	c.384C>T	c.(382-384)gaC>gaT	p.D128D	LRRC48_ENST00000584166.1_Silent_p.D128D|LRRC48_ENST00000399182.1_Silent_p.D128D|LRRC48_ENST00000411504.2_Silent_p.D128D|LRRC48_ENST00000313838.8_Silent_p.D128D	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	128						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					ACTCCCTGGACGCCCTCGTCA	0.577																																																	0								C	,,,	0,4080		0,0,2040	58.0	59.0	59.0		384,384,384,384	-6.5	0.0	17		59	1,8355		0,1,4177	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LRRC48	NM_001130090.1,NM_001130091.1,NM_001130092.1,NM_031294.3	,,,	0,1,6217	TT,TC,CC		0.012,0.0,0.0080	,,,	128/524,128/458,128/458,128/524	17891352	1,12435	2040	4178	6218	SO:0001819	synonymous_variant	0			AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.384C>T	17.37:g.17891352C>T			A8KAE6|Q86SF9|Q86W73|Q8IWG0	Silent	SNP	NULL	p.D128	ENST00000399187.1	37	c.384	CCDS45622.1	17																																																																																			LRRC48	-	NULL	ENSG00000171962		0.577	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	LRRC48	HGNC	protein_coding	OTTHUMT00000131945.3	-	0.00	34	0	C	NM_031294		17891352	+1	tier1	-	no_errors	ENST00000313838	ensembl	human	known	74_37	silent	58.62	12	17	SNP	0.014	T
LRRC37B	114659	genome.wustl.edu	37	17	30348815	30348815	+	Missense_Mutation	SNP	G	G	A	rs145638325		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:30348815G>A	ENST00000341671.7	+	1	655	c.650G>A	c.(649-651)cGt>cAt	p.R217H	LRRC37B_ENST00000584368.1_Missense_Mutation_p.R229H|LRRC37B_ENST00000543378.2_Missense_Mutation_p.R135H|LRRC37B_ENST00000394713.3_Missense_Mutation_p.R217H|LRRC37B_ENST00000327564.7_Missense_Mutation_p.R244H	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	217						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AAACCTCAGCGTCAGAAACAG	0.483																																																	0								G	HIS/ARG	0,4406		0,0,2203	78.0	86.0	83.0		650	-2.8	0.0	17	dbSNP_134	83	2,8598		0,2,4298	no	missense	LRRC37B	NM_052888.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	217/948	30348815	2,13004	2203	4300	6503	SO:0001583	missense	0			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.650G>A	17.37:g.30348815G>A	ENSP00000340519:p.Arg217His		Q17RC9|Q5YKG6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R217H	ENST00000341671.7	37	c.650	CCDS32609.1	17	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.837509	0.00573	0.0	2.33E-4	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.65364	-0.09;-0.15;0.96;-0.14	1.38	-2.77	0.05877	.	.	.	.	.	T	0.36826	0.0981	L	0.36672	1.1	0.09310	N	1	B;P	0.35628	0.0;0.513	B;B	0.20384	0.0;0.029	T	0.14282	-1.0478	9	0.16420	T	0.52	.	3.3722	0.07225	0.3705:0.0:0.3885:0.241	.	217;217	Q17RC9;Q96QE4	.;LR37B_HUMAN	H	135;244;217;217	ENSP00000443345:R135H;ENSP00000332536:R244H;ENSP00000378202:R217H;ENSP00000340519:R217H	ENSP00000332536:R244H	R	+	2	0	LRRC37B	27372928	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.919000	0.00694	-3.095000	0.00246	-1.172000	0.01736	CGT	LRRC37B	-	NULL	ENSG00000185158		0.483	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37B	HGNC	protein_coding	OTTHUMT00000446508.1	-	0.00	34	0	G	NM_052888		30348815	+1	tier1	rs145638325	no_errors	ENST00000341671	ensembl	human	known	74_37	missense	56.82	19	25	SNP	0.000	A
LRRC6	23639	genome.wustl.edu	37	8	133637520	133637521	+	Missense_Mutation	DNP	TA	TA	AG			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T|A	T|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:133637520_133637521TA>AG	ENST00000519595.1	-	6	931_932	c.833_834TA>CT	c.(832-834)tTA>tCT	p.L278S	LRRC6_ENST00000250173.1_Missense_Mutation_p.L278S|LRRC6_ENST00000518642.1_Missense_Mutation_p.L278S|LRRC6_ENST00000520446.1_5'UTR			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	278					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGAAATACCTTAATTTTTCCTG	0.351																																																	0																																										SO:0001583	missense	0			U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.833_834delinsAG	8.37:g.133637520_133637521delinsAG	ENSP00000429791:p.Leu278Ser		Q13648|Q4G183	Missense_Mutation	SNP	superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS_dom	p.L278F|p.L278S	ENST00000519595.1	37	c.834|c.833		8																																																																																			LRRC6	-	NULL	ENSG00000129295		0.351	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	LRRC6	HGNC	protein_coding	OTTHUMT00000379578.1	-	0.00	112	0	T|A	NM_012472		133637520|133637521	-1	tier1	-	no_errors	ENST00000250173	ensembl	human	known	74_37	missense	31.21	97	44	SNP	0.995|0.988	A|G
LRRC6	23639	genome.wustl.edu	37	8	133687535	133687535	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:133687535C>T	ENST00000519595.1	-	1	109				LRRC6_ENST00000250173.1_Intron|LRRC6_ENST00000518642.1_Intron|LRRC6_ENST00000520446.1_Intron			Q86X45	TILB_HUMAN	leucine rich repeat containing 6						cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ctggaaaaggCCAGGCTGTCC	0.667																																																	0																																										SO:0001627	intron_variant	0			U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.10+194G>A	8.37:g.133687535C>T			Q13648|Q4G183	RNA	SNP	-	NULL	ENST00000519595.1	37	NULL		8																																																																																			LRRC6	-	-	ENSG00000129295		0.667	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	LRRC6	HGNC	protein_coding	OTTHUMT00000379578.1	-	0.00	16	0	C	NM_012472		133687535	-1	tier1	-	no_errors	ENST00000521430	ensembl	human	known	74_37	rna	22.22	14	4	SNP	0.000	T
LRRC66	339977	genome.wustl.edu	37	4	52860637	52860637	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:52860637C>T	ENST00000343457.3	-	4	2557	c.2551G>A	c.(2551-2553)Gtt>Att	p.V851I		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	851						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGCTGTAAAACGTCCACATTT	0.408																																																	0													88.0	86.0	87.0					4																	52860637		1893	4116	6009	SO:0001583	missense	0			BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2551G>A	4.37:g.52860637C>T	ENSP00000341944:p.Val851Ile			Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.V851I	ENST00000343457.3	37	c.2551	CCDS43229.1	4	.	.	.	.	.	.	.	.	.	.	C	5.073	0.199151	0.09652	.	.	ENSG00000188993	ENST00000343457	T	0.26373	1.74	4.11	-5.85	0.02311	.	2.464530	0.01427	N	0.014615	T	0.10121	0.0248	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.14144	-1.0483	10	0.19147	T	0.46	0.3723	2.4344	0.04479	0.1531:0.436:0.1559:0.255	.	851	Q68CR7	LRC66_HUMAN	I	851	ENSP00000341944:V851I	ENSP00000341944:V851I	V	-	1	0	LRRC66	52555394	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.987000	0.03743	-0.737000	0.04824	-0.768000	0.03414	GTT	LRRC66	-	NULL	ENSG00000188993		0.408	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC66	HGNC	protein_coding	OTTHUMT00000361473.1	-	0.00	85	0	C	NM_001024611		52860637	-1	tier1	-	no_errors	ENST00000343457	ensembl	human	known	74_37	missense	28.75	57	23	SNP	0.000	T
LRRIQ3	127255	genome.wustl.edu	37	1	74549888	74549889	+	Intron	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:74549888_74549889insT	ENST00000395089.1	-	5	867				LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.L186fs|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000354431.4_Intron			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3											NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTGACCCATAATTTTTTTTTAT	0.327																																																	0																																										SO:0001627	intron_variant	0			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.868-9414->A	1.37:g.74549897_74549897dupT			A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,pfscan_IQ_motif_EF-hand-BS	p.L293fs	ENST00000395089.1	37	c.880_879	CCDS41350.1	1																																																																																			LRRIQ3	-	NULL	ENSG00000162620		0.327	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	HGNC	protein_coding	OTTHUMT00000316539.1		0.00	22	0	-	NM_145258		74549889	-1	tier1		no_errors	ENST00000415760	ensembl	human	known	74_37	frame_shift_ins	26.83	30	11	INS	0.998:0.995	T
LRRC8D	55144	genome.wustl.edu	37	1	90399253	90399253	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:90399253C>T	ENST00000337338.5	+	3	1033	c.626C>T	c.(625-627)aCg>aTg	p.T209M	LRRC8D_ENST00000394593.3_Missense_Mutation_p.T209M	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	209					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T209M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TCCCCTTGGACGACAAAAGCG	0.418																																																	1	Substitution - Missense(1)	large_intestine(1)											59.0	60.0	60.0					1																	90399253		2203	4300	6503	SO:0001583	missense	0			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.626C>T	1.37:g.90399253C>T	ENSP00000338887:p.Thr209Met		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T209M	ENST00000337338.5	37	c.626	CCDS726.1	1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602171	0.66445	.	.	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000441269	T;T;T	0.57752	1.05;1.05;0.38	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68096	-0.5499	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	209	Q7L1W4	LRC8D_HUMAN	M	209	ENSP00000338887:T209M;ENSP00000378093:T209M;ENSP00000405784:T209M	.	T	+	2	0	LRRC8D	90171841	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	ACG	LRRC8D	-	NULL	ENSG00000171492		0.418	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8D	HGNC	protein_coding	OTTHUMT00000029203.2	-	0.00	37	0	C	NM_018103		90399253	+1	tier1	-	no_errors	ENST00000337338	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	T
LRRK1	79705	genome.wustl.edu	37	15	101566237	101566237	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:101566237G>A	ENST00000388948.3	+	17	2659	c.2300G>A	c.(2299-2301)cGt>cAt	p.R767H	LRRK1_ENST00000284395.5_Missense_Mutation_p.R764H	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCAAGTTCCGTGTGGAAAGG	0.602																																																	0													105.0	118.0	114.0					15																	101566237		2121	4230	6351	SO:0001583	missense	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2300G>A	15.37:g.101566237G>A	ENSP00000373600:p.Arg767His			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.R767H	ENST00000388948.3	37	c.2300	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619540	0.87460	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.80653	-1.4;-1.4	4.71	4.71	0.59529	ROC GTPase (1);	0.000000	0.85682	D	0.000000	D	0.86385	0.5920	L	0.47716	1.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.72075	0.976	D	0.86683	0.1918	10	0.46703	T	0.11	.	17.6842	0.88252	0.0:0.0:1.0:0.0	.	767	Q38SD2	LRRK1_HUMAN	H	767;764	ENSP00000373600:R767H;ENSP00000284395:R764H	ENSP00000284395:R764H	R	+	2	0	LRRK1	99383760	1.000000	0.71417	0.965000	0.40720	0.614000	0.37383	7.306000	0.78905	2.158000	0.67659	0.462000	0.41574	CGT	LRRK1	-	pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase	ENSG00000154237		0.602	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	-	0.00	111	0	G	NM_024652		101566237	+1	tier1	-	no_errors	ENST00000388948	ensembl	human	known	74_37	missense	29.17	68	28	SNP	1.000	A
LRRK1	79705	genome.wustl.edu	37	15	101593468	101593468	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:101593468G>T	ENST00000388948.3	+	26	4256	c.3897G>T	c.(3895-3897)aaG>aaT	p.K1299N	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.K1296N	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGCCATGAAGAACTTCTCCG	0.652																																																	0													41.0	48.0	46.0					15																	101593468		2180	4272	6452	SO:0001583	missense	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3897G>T	15.37:g.101593468G>T	ENSP00000373600:p.Lys1299Asn			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.K1299N	ENST00000388948.3	37	c.3897	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438488	0.43326	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	D;D	0.93604	-3.25;-3.25	4.83	3.9	0.45041	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.120747	0.53938	D	0.000050	D	0.88392	0.6424	L	0.34521	1.04	0.39653	D	0.970493	B	0.31459	0.324	B	0.34038	0.174	D	0.86616	0.1876	10	0.72032	D	0.01	.	8.3105	0.32068	0.0781:0.0:0.7654:0.1565	.	1299	Q38SD2	LRRK1_HUMAN	N	1299;1296	ENSP00000373600:K1299N;ENSP00000284395:K1296N	ENSP00000284395:K1296N	K	+	3	2	LRRK1	99410991	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	1.860000	0.39428	1.134000	0.42165	-0.188000	0.12872	AAG	LRRK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000154237		0.652	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	-	0.00	70	0	G	NM_024652		101593468	+1	tier1	-	no_errors	ENST00000388948	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T
LRRK2	120892	genome.wustl.edu	37	12	40702287	40702287	+	Frame_Shift_Del	DEL	A	A	-	rs201636831		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:40702287delA	ENST00000298910.7	+	29	4036	c.3978delA	c.(3976-3978)ttafs	p.L1326fs		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1326					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AACAGCGATTAAAAAAGGCTG	0.313																																																	0													47.0	48.0	48.0					12																	40702287		2203	4299	6502	SO:0001589	frameshift_variant	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3978delA	12.37:g.40702287delA	ENSP00000298910:p.Leu1326fs		A6NJU2|Q6ZS50|Q8NCX9	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.K1328fs	ENST00000298910.7	37	c.3978	CCDS31774.1	12																																																																																			LRRK2	-	NULL	ENSG00000188906		0.313	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1		0.00	35	0	A	XM_058513		40702287	+1	tier1		no_errors	ENST00000298910	ensembl	human	known	74_37	frame_shift_del	38.64	27	17	DEL	0.982	-
LRTM1	57408	genome.wustl.edu	37	3	54958868	54958868	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:54958868C>A	ENST00000273286.5	-	2	544	c.382G>T	c.(382-384)Gat>Tat	p.D128Y	LRTM1_ENST00000493075.1_Missense_Mutation_p.D52Y|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	128						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GATGACAAATCAAGCTCCCTC	0.473																																																	0													87.0	83.0	84.0					3																	54958868		2203	4300	6503	SO:0001583	missense	0			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.382G>T	3.37:g.54958868C>A	ENSP00000273286:p.Asp128Tyr		Q8IUU2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.D128Y	ENST00000273286.5	37	c.382	CCDS2876.1	3	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747890	0.69533	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;T	0.59364	0.27;0.27	5.96	5.96	0.96718	.	0.047657	0.85682	D	0.000000	T	0.74876	0.3774	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.72301	-0.4334	10	0.48119	T	0.1	.	20.4123	0.99019	0.0:1.0:0.0:0.0	.	128	Q9HBL6	LRTM1_HUMAN	Y	128;52	ENSP00000273286:D128Y;ENSP00000419772:D52Y	ENSP00000273286:D128Y	D	-	1	0	LRTM1	54933908	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	3.524000	0.53495	2.824000	0.97209	0.655000	0.94253	GAT	LRTM1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000144771		0.473	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1	-	0.00	54	0	C	NM_020678		54958868	-1	tier1	-	no_errors	ENST00000273286	ensembl	human	known	74_37	missense	47.06	18	16	SNP	1.000	A
LTBP2	4053	genome.wustl.edu	37	14	74995695	74995695	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:74995695G>A	ENST00000261978.4	-	11	2504	c.2118C>T	c.(2116-2118)ggC>ggT	p.G706G	LTBP2_ENST00000556690.1_Silent_p.G706G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	706	TB 2.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CACACTCGCTGCCCCATGCTT	0.632																																																	0													33.0	27.0	29.0					14																	74995695		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2118C>T	14.37:g.74995695G>A			Q99907|Q9NS51	Silent	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G706	ENST00000261978.4	37	c.2118	CCDS9831.1	14																																																																																			LTBP2	-	pfam_TB_dom,superfamily_TB_dom	ENSG00000119681		0.632	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	-	0.00	68	0	G	NM_000428		74995695	-1	tier1	-	no_errors	ENST00000261978	ensembl	human	known	74_37	silent	38.00	31	19	SNP	0.176	A
LTBP3	4054	genome.wustl.edu	37	11	65315233	65315233	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:65315233C>T	ENST00000301873.5	-	13	2174	c.1906G>A	c.(1906-1908)Ggc>Agc	p.G636S	LTBP3_ENST00000536982.1_Missense_Mutation_p.G262S|LTBP3_ENST00000322147.4_Missense_Mutation_p.G636S|LTBP3_ENST00000532932.1_Missense_Mutation_p.G66S|LTBP3_ENST00000529189.1_5'Flank	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	636	Cys-rich.|EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TAGGAGCCGCCGGTGTTCATG	0.677																																																	0													13.0	15.0	15.0					11																	65315233		2199	4293	6492	SO:0001583	missense	0			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1906G>A	11.37:g.65315233C>T	ENSP00000301873:p.Gly636Ser		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.G636S	ENST00000301873.5	37	c.1906	CCDS44647.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.63|11.63	1.695071|1.695071	0.30052|0.30052	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866|ENST00000526927	D;D;D;D;D|.	0.91792|.	-2.91;-2.91;-2.91;-2.91;-2.91|.	4.39|4.39	3.46|3.46	0.39613|0.39613	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	0.266276|.	0.36034|.	N|.	0.002821|.	T|T	0.29684|0.29684	0.0741|0.0741	N|N	0.16833|0.16833	0.445|0.445	0.19775|0.19775	N|N	0.999954|0.999954	D;D;D;D;D;D|.	0.89917|.	1.0;0.996;0.997;1.0;0.999;0.974|.	D;P;P;D;P;P|.	0.97110|.	1.0;0.766;0.664;0.999;0.865;0.695|.	T|T	0.18808|0.18808	-1.0325|-1.0325	10|5	0.11182|.	T|.	0.66|.	.|.	11.2881|11.2881	0.49234|0.49234	0.1841:0.8159:0.0:0.0|0.1841:0.8159:0.0:0.0	.|.	547;262;519;636;636;66|.	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2|.	.;.;.;LTBP3_HUMAN;.;.|.	S|Q	636;636;66;262;547|286	ENSP00000326647:G636S;ENSP00000301873:G636S;ENSP00000435530:G66S;ENSP00000441912:G262S;ENSP00000435276:G547S|.	ENSP00000301873:G636S|.	G|R	-|-	1|2	0|0	LTBP3|LTBP3	65071809|65071809	0.002000|0.002000	0.14202|0.14202	0.680000|0.680000	0.29994|0.29994	0.405000|0.405000	0.30901|0.30901	1.565000|1.565000	0.36386|0.36386	1.040000|1.040000	0.40099|0.40099	0.313000|0.313000	0.20887|0.20887	GGC|CGG	LTBP3	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000168056		0.677	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	-	0.00	62	0	C	NM_021070		65315233	-1	tier1	-	no_errors	ENST00000301873	ensembl	human	known	74_37	missense	33.33	30	15	SNP	0.319	T
LTN1	26046	genome.wustl.edu	37	21	30339206	30339207	+	Frame_Shift_Del	DEL	TT	TT	-	rs560176639	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:30339206_30339207delTT	ENST00000361371.5	-	10	1685_1686	c.1606_1607delAA	c.(1606-1608)aatfs	p.N536fs	LTN1_ENST00000389194.2_Frame_Shift_Del_p.N582fs|LTN1_ENST00000389195.2_Frame_Shift_Del_p.N582fs			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	536					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.N536fs*33(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						AACCTTACCATTTTTTTTTTTA	0.381																																																	1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	0			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.1606_1607delAA	21.37:g.30339214_30339215delTT	ENSP00000354977:p.Asn536fs		A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.N582fs	ENST00000361371.5	37	c.1745_1744		21																																																																																			LTN1	-	superfamily_ARM-type_fold	ENSG00000198862		0.381	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1		0.00	61	0	TT	NM_015565		30339207	-1	tier1		no_errors	ENST00000389194	ensembl	human	known	74_37	frame_shift_del	40.62	38	26	DEL	0.000:0.034	-
LY6G6F	259215	genome.wustl.edu	37	6	31680129	31680129	+	IGR	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:31680129G>T	ENST00000375832.4	+	0	920				LY6G6F_ENST00000556581.1_Intron|XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6E_ENST00000383418.4_Missense_Mutation_p.L123I|MEGT1_ENST00000503322.1_Intron|LY6G6E_ENST00000409239.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						TAGTGGAGGAGGTGTCCTCTC	0.632																																																	0																																										SO:0001628	intergenic_variant	0				CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"""Immunoglobulin superfamily / V-set domain containing"""	13933	protein-coding gene	gene with protein product		611404	"""chromosome 6 open reading frame 21"""	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252		6.37:g.31680129G>T			B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Missense_Mutation	SNP	NULL	p.L123I	ENST00000375832.4	37	c.367	CCDS34403.1	6	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760815	0.31137	.	.	ENSG00000255552	ENST00000383418	.	.	.	3.53	-1.89	0.07689	.	.	.	.	.	T	0.04770	0.0129	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.37174	-0.9717	5	0.18710	T	0.47	-10.891	0.545	0.00652	0.3688:0.1752:0.2778:0.1782	.	.	.	.	I	123	.	ENSP00000372910:L123I	L	-	1	0	AL662899.1	31788108	0.056000	0.20664	0.000000	0.03702	0.084000	0.17831	0.165000	0.16564	-0.410000	0.07542	0.549000	0.68633	CTC	LY6G6E	-	NULL	ENSG00000255552		0.632	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6G6E	HGNC	protein_coding	OTTHUMT00000076532.2	-	0.00	29	0	G	NM_001003693		31680129	-1	tier1	-	no_errors	ENST00000383418	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.000	T
LYAR	55646	genome.wustl.edu	37	4	4285408	4285408	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:4285408T>C	ENST00000343470.4	-	3	302	c.62A>G	c.(61-63)cAt>cGt	p.H21R	LYAR_ENST00000452476.1_Missense_Mutation_p.H21R	NM_017816.2	NP_060286	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	21				H -> R (in Ref. 3; CAG38579). {ECO:0000305}.		nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AACAGACACATGCTTTTCCAC	0.363																																																	0													113.0	101.0	105.0					4																	4285408		2203	4300	6503	SO:0001583	missense	0			AL136750	CCDS3374.1	4p16.3	2013-01-10	2012-12-07		ENSG00000145220	ENSG00000145220		"""Zinc fingers, C2HC-type containing"""	26021	protein-coding gene	gene with protein product			"""Ly1 antibody reactive homolog (mouse)"""			11230166, 8491376	Standard	NM_001145725		Approved	ZC2HC2, ZLYAR	uc003ght.3	Q9NX58	OTTHUMG00000125477	ENST00000343470.4:c.62A>G	4.37:g.4285408T>C	ENSP00000345917:p.His21Arg		D3DVS4|Q6FI78|Q9NYS1	Missense_Mutation	SNP	pfam_Znf_C2H2_LYAR	p.H21R	ENST00000343470.4	37	c.62	CCDS3374.1	4	.	.	.	.	.	.	.	.	.	.	T	18.20	3.571556	0.65765	.	.	ENSG00000145220	ENST00000343470;ENST00000452476;ENST00000513174	T;T	0.74526	-0.85;-0.85	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.89008	0.6593	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91595	0.5290	10	0.87932	D	0	-24.6683	14.3451	0.66654	0.0:0.0:0.0:1.0	.	21	Q9NX58	LYAR_HUMAN	R	21	ENSP00000345917:H21R;ENSP00000397367:H21R	ENSP00000345917:H21R	H	-	2	0	LYAR	4336309	1.000000	0.71417	0.909000	0.35828	0.442000	0.32017	7.272000	0.78516	2.036000	0.60181	0.482000	0.46254	CAT	LYAR	-	NULL	ENSG00000145220		0.363	LYAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYAR	HGNC	protein_coding	OTTHUMT00000246800.2	-	0.00	65	0	T	NM_017816		4285408	-1	tier1	-	no_errors	ENST00000343470	ensembl	human	known	74_37	missense	31.43	48	22	SNP	0.997	C
LYN	4067	genome.wustl.edu	37	8	56864612	56864612	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:56864612G>A	ENST00000519728.1	+	7	871	c.575G>A	c.(574-576)gGc>gAc	p.G192D	LYN_ENST00000520220.2_Missense_Mutation_p.G171D	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	192	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	GATAATGGGGGCTATTACATC	0.393																																																	0													119.0	118.0	118.0					8																	56864612		2203	4300	6503	SO:0001583	missense	0			M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.575G>A	8.37:g.56864612G>A	ENSP00000428924:p.Gly192Asp		A0AVQ5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.G192D	ENST00000519728.1	37	c.575	CCDS6162.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.272267	0.95429	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	D;D	0.89415	-2.51;-2.51	6.01	6.01	0.97437	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.94288	0.8165	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93858	0.7151	10	0.72032	D	0.01	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	262;192	Q6NUK7;P07948	.;LYN_HUMAN	D	192;171	ENSP00000428924:G192D;ENSP00000428424:G171D	ENSP00000428924:G192D	G	+	2	0	LYN	57027166	1.000000	0.71417	0.873000	0.34254	0.886000	0.51366	9.835000	0.99442	2.861000	0.98227	0.650000	0.86243	GGC	LYN	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000254087		0.393	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYN	HGNC	protein_coding	OTTHUMT00000378155.1	-	0.00	64	0	G	NM_002350		56864612	+1	tier1	-	no_errors	ENST00000519728	ensembl	human	known	74_37	missense	19.54	70	17	SNP	1.000	A
LYPLAL1	127018	genome.wustl.edu	37	1	219366651	219366651	+	Intron	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:219366651T>C	ENST00000366928.5	+	3	408				LYPLAL1_ENST00000483635.1_Intron|LYPLAL1_ENST00000366927.3_Intron	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1						negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		ATTCTATACATCAAATCTTAC	0.289																																																	0																																										SO:0001627	intron_variant	0			BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.361+58T>C	1.37:g.219366651T>C			A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	RNA	SNP	-	NULL	ENST00000366928.5	37	NULL	CCDS1522.1	1																																																																																			LYPLAL1	-	-	ENSG00000143353		0.289	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLAL1	HGNC	protein_coding	OTTHUMT00000090208.1	-	0.00	20	0	T	NM_138794		219366651	+1	tier1	-	no_errors	ENST00000496776	ensembl	human	known	74_37	rna	29.41	24	10	SNP	0.000	C
LYST	1130	genome.wustl.edu	37	1	235897834	235897834	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:235897834G>T	ENST00000389794.3	-	32	8658	c.8484C>A	c.(8482-8484)tgC>tgA	p.C2828*	LYST_ENST00000389793.2_Nonsense_Mutation_p.C2828*|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2828					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGGGAGGGATGCACTTGTGAC	0.393																																																	0													249.0	217.0	228.0					1																	235897834		2203	4300	6503	SO:0001587	stop_gained	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8484C>A	1.37:g.235897834G>T	ENSP00000374444:p.Cys2828*		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.C2828*	ENST00000389794.3	37	c.8484	CCDS31062.1	1	.	.	.	.	.	.	.	.	.	.	G	51	17.505381	0.99888	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.06	5.06	0.68205	.	0.044849	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1052	0.36694	0.2081:0.0:0.7919:0.0	.	.	.	.	X	2828	.	ENSP00000374443:C2828X	C	-	3	2	LYST	233964457	1.000000	0.71417	0.981000	0.43875	0.993000	0.82548	2.364000	0.44187	2.496000	0.84212	0.591000	0.81541	TGC	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.393	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	-	0.00	66	0	G			235897834	-1	tier1	-	no_errors	ENST00000389793	ensembl	human	known	74_37	nonsense	5.80	65	4	SNP	1.000	T
LYST	1130	genome.wustl.edu	37	1	235914600	235914600	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:235914600C>T	ENST00000389794.3	-	28	7864	c.7690G>A	c.(7690-7692)Gca>Aca	p.A2564T	LYST_ENST00000389793.2_Missense_Mutation_p.A2564T			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2564					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCATGATTTGCGGTGGTCCTT	0.428																																																	0													131.0	130.0	131.0					1																	235914600		2203	4300	6503	SO:0001583	missense	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.7690G>A	1.37:g.235914600C>T	ENSP00000374444:p.Ala2564Thr		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A2564T	ENST00000389794.3	37	c.7690	CCDS31062.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.748831|4.748831	0.89753|0.89753	.|.	.|.	ENSG00000143669|ENSG00000143669	ENST00000389794;ENST00000389793|ENST00000487530	T;T|.	0.64991|.	-0.13;-0.13|.	5.16|5.16	4.18|4.18	0.49190|0.49190	.|.	0.569810|.	0.19900|.	N|.	0.103532|.	T|T	0.63522|0.63522	0.2518|0.2518	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	P|.	0.34815|.	0.47|.	B|.	0.19666|.	0.026|.	T|T	0.61530|0.61530	-0.7044|-0.7044	10|5	0.24483|.	T|.	0.36|.	.|.	10.08|10.08	0.42384|0.42384	0.1371:0.7888:0.0:0.0741|0.1371:0.7888:0.0:0.0741	.|.	2564|.	Q99698|.	LYST_HUMAN|.	T|H	2564|77	ENSP00000374444:A2564T;ENSP00000374443:A2564T|.	ENSP00000374443:A2564T|.	A|R	-|-	1|2	0|0	LYST|LYST	233981223|233981223	1.000000|1.000000	0.71417|0.71417	0.835000|0.835000	0.33067|0.33067	0.932000|0.932000	0.56968|0.56968	4.491000|4.491000	0.60326|0.60326	2.560000|2.560000	0.86352|0.86352	0.561000|0.561000	0.74099|0.74099	GCA|CGC	LYST	-	superfamily_ARM-type_fold	ENSG00000143669		0.428	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	-	0.00	64	0	C			235914600	-1	tier1	-	no_errors	ENST00000389793	ensembl	human	known	74_37	missense	46.43	30	26	SNP	0.993	T
LZTR1	8216	genome.wustl.edu	37	22	21345976	21345976	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:21345976G>A	ENST00000215739.8	+	9	1210	c.851G>A	c.(850-852)cGc>cAc	p.R284H	LZTR1_ENST00000389355.3_Missense_Mutation_p.R265H|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	284					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCGCAGCGGCGCTACGGGCAT	0.632																																																	0													34.0	32.0	33.0					22																	21345976		2200	4295	6495	SO:0001583	missense	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.851G>A	22.37:g.21345976G>A	ENSP00000215739:p.Arg284His		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R284H	ENST00000215739.8	37	c.851	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	G	35	5.540186	0.96474	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	D;D	0.85702	-2.02;-2.02	5.24	5.24	0.73138	Kelch-type beta propeller (1);	0.052090	0.85682	D	0.000000	D	0.94305	0.8170	M	0.93939	3.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.98;0.997;0.98;0.949	D	0.95600	0.8662	10	0.87932	D	0	-34.3649	16.3155	0.82918	0.0:0.0:1.0:0.0	.	265;243;284;243	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	H	243;284;265	ENSP00000215739:R284H;ENSP00000374006:R265H	ENSP00000215739:R284H	R	+	2	0	LZTR1	19675976	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.630000	0.83225	2.444000	0.82710	0.462000	0.41574	CGC	LZTR1	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1	ENSG00000099949		0.632	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	-	0.00	42	0	G	NM_006767		21345976	+1	tier1	-	no_errors	ENST00000215739	ensembl	human	known	74_37	missense	48.57	18	17	SNP	1.000	A
LZTS1	11178	genome.wustl.edu	37	8	20110344	20110344	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:20110344G>A	ENST00000381569.1	-	3	1455	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	LZTS1_ENST00000522290.1_Silent_p.Y366Y|LZTS1_ENST00000265801.6_Silent_p.Y366Y			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	366					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCTCCCTCTCGTAGGACCTGA	0.642																																																	0													35.0	36.0	36.0					8																	20110344		2203	4300	6503	SO:0001819	synonymous_variant	0			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1098C>T	8.37:g.20110344G>A			D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Silent	SNP	NULL	p.Y366	ENST00000381569.1	37	c.1098	CCDS6015.1	8																																																																																			LZTS1	-	NULL	ENSG00000061337		0.642	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS1	HGNC	protein_coding	OTTHUMT00000214122.1	-	0.00	23	0	G	NM_021020		20110344	-1	tier1	-	no_errors	ENST00000265801	ensembl	human	known	74_37	silent	22.58	24	7	SNP	0.838	A
MACC1	346389	genome.wustl.edu	37	7	20199466	20199466	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:20199466delT	ENST00000400331.5	-	5	826	c.518delA	c.(517-519)aatfs	p.N173fs	MACC1_ENST00000589011.1_Frame_Shift_Del_p.N173fs|MACC1_ENST00000332878.4_Frame_Shift_Del_p.N173fs	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	173					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CTCCCGATCATTTTTAAGCCA	0.468																																																	0													75.0	73.0	73.0					7																	20199466		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.518delA	7.37:g.20199466delT	ENSP00000383185:p.Asn173fs		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Frame_Shift_Del	DEL	pfam_SH3_2,superfamily_DEATH-like_dom	p.N173fs	ENST00000400331.5	37	c.518	CCDS5369.1	7																																																																																			MACC1	-	NULL	ENSG00000183742		0.468	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACC1	HGNC	protein_coding	OTTHUMT00000250202.5		0.00	17	0	T	NM_182762		20199466	-1	tier1		no_errors	ENST00000332878	ensembl	human	known	74_37	frame_shift_del	34.78	15	8	DEL	1.000	-
MACF1	23499	genome.wustl.edu	37	1	39951743	39951746	+	3'UTR	DEL	AAAA	AAAA	-	rs3839022|rs551344914|rs540418317	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:39951743_39951746delAAAA	ENST00000372915.3	+	0	22531_22534				MACF1_ENST00000361689.2_3'UTR|MACF1_ENST00000317713.7_3'UTR|MACF1_ENST00000567887.1_3'UTR|MACF1_ENST00000545844.1_3'UTR|MACF1_ENST00000539005.1_3'UTR|MACF1_ENST00000289893.4_3'UTR|MACF1_ENST00000564288.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATGTGTATTAAAAAAAAAAAAGC	0.348																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.*280AAAA>-	1.37:g.39951751_39951754delAAAA			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	RNA	DEL	-	NULL	ENST00000372915.3	37	NULL		1																																																																																			MACF1	-	-	ENSG00000127603		0.348	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1		0.00	37	0	AAAA	NM_033044		39951746	+1	tier1		no_errors	ENST00000496360	ensembl	human	known	74_37	rna	35.19	35	19	DEL	0.084:0.001:0.001:0.000	-
MAD2L1	4085	genome.wustl.edu	37	4	120982060	120982060	+	Silent	SNP	C	C	T	rs529786403		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:120982060C>T	ENST00000296509.6	-	4	753	c.414G>A	c.(412-414)acG>acA	p.T138T		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	138	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						GAAATGTCACCGTAGCTGTGA	0.368													T|||	1	0.000199681	0.0008	0.0	5008	,	,		16844	0.0		0.0	False		,,,				2504	0.0																0													58.0	58.0	58.0					4																	120982060		2203	4300	6503	SO:0001819	synonymous_variant	0			U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"""			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.414G>A	4.37:g.120982060C>T			Q53F56|Q548X9|Q6IRW7|Q8IZX3	Silent	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.T138	ENST00000296509.6	37	c.414	CCDS3715.1	4																																																																																			MAD2L1	-	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	ENSG00000164109		0.368	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAD2L1	HGNC	protein_coding	OTTHUMT00000256525.2	-	0.00	51	0	C			120982060	-1	tier1	-	no_errors	ENST00000296509	ensembl	human	known	74_37	silent	36.67	38	22	SNP	0.012	T
MADCAM1	8174	genome.wustl.edu	37	19	498664	498666	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:498664_498666delAGG	ENST00000215637.3	+	3	552_554	c.506_508delAGG	c.(505-510)caggag>cag	p.E174del	MADCAM1_ENST00000346144.4_In_Frame_Del_p.E174del|MADCAM1_ENST00000382683.4_In_Frame_Del_p.E79del|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000587541.1_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	174	Ig-like 2.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGAGGTGCAGGAGGAGGAGGA	0.724																																																	0									,	138,3960		25,88,1936					,	-1.7	0.0			10	276,7738		43,190,3774	no	coding,coding	MADCAM1	NM_130762.2,NM_130760.2	,	68,278,5710	A1A1,A1R,RR		3.444,3.3675,3.4181	,	,		414,11698				SO:0001651	inframe_deletion	0			U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.506_508delAGG	19.37:g.498673_498675delAGG	ENSP00000215637:p.Glu174del		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	In_Frame_Del	DEL	pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like_dom	p.E173in_frame_del	ENST00000215637.3	37	c.506_508	CCDS12028.1	19																																																																																			MADCAM1	-	pfam_Adhes-Ig-like	ENSG00000099866		0.724	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MADCAM1	HGNC	protein_coding	OTTHUMT00000451884.1		0.00	29	0	AGG	NM_130760		498666	+1	tier1		no_errors	ENST00000215637	ensembl	human	known	74_37	in_frame_del	11.11	24	3	DEL	0.029:0.036:0.046	-
MADD	8567	genome.wustl.edu	37	11	47310955	47310955	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:47310955G>A	ENST00000311027.5	+	17	2892	c.2727G>A	c.(2725-2727)gcG>gcA	p.A909A	MADD_ENST00000407859.3_Silent_p.A866A|MADD_ENST00000349238.3_Silent_p.A909A|MADD_ENST00000406482.1_Silent_p.A846A|MADD_ENST00000395344.3_Silent_p.A846A|MADD_ENST00000342922.4_Silent_p.A889A|MADD_ENST00000402799.1_Silent_p.A846A|MADD_ENST00000395336.3_Silent_p.A909A|MADD_ENST00000402192.2_Silent_p.A889A	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ACAGGAGGGCGTTAGTGGATC	0.488																																																	0													236.0	224.0	228.0					11																	47310955		2201	4298	6499	SO:0001819	synonymous_variant	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2727G>A	11.37:g.47310955G>A				Silent	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.A909	ENST00000311027.5	37	c.2727	CCDS7930.1	11																																																																																			MADD	-	NULL	ENSG00000110514		0.488	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	-	0.00	66	0	G			47310955	+1	tier1	-	no_errors	ENST00000311027	ensembl	human	known	74_37	silent	36.84	36	21	SNP	0.955	A
MAFK	7975	genome.wustl.edu	37	7	1579726	1579726	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:1579726C>T	ENST00000343242.4	+	3	415	c.186C>T	c.(184-186)cgC>cgT	p.R62R		NM_002360.3	NP_002351.1	O60675	MAFK_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K	62	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				blood coagulation (GO:0007596)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.75e-15)		TCAAGAACCGCGGCTACGCGG	0.677																																																	0													21.0	20.0	21.0					7																	1579726		2165	4272	6437	SO:0001819	synonymous_variant	0			AF059194	CCDS5325.1	7p22	2013-07-09	2013-07-09		ENSG00000198517	ENSG00000198517			6782	protein-coding gene	gene with protein product	"""basic-leucine zipper transcription factor MafK"", ""erythroid transcription factor NF-E2 p18 subunit"", ""nuclear factor erythroid-2, ubiquitous (p18)"""	600197				9763667	Standard	XM_005249851		Approved	P18, NFE2U	uc003skr.3	O60675	OTTHUMG00000151453	ENST00000343242.4:c.186C>T	7.37:g.1579726C>T			A4D214	Silent	SNP	pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.R62	ENST00000343242.4	37	c.186	CCDS5325.1	7																																																																																			MAFK	-	pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP	ENSG00000198517		0.677	MAFK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAFK	HGNC	protein_coding	OTTHUMT00000322712.1	-	0.00	85	0	C	NM_002360		1579726	+1	tier1	-	no_errors	ENST00000343242	ensembl	human	known	74_37	silent	24.00	38	12	SNP	0.006	T
MAGEC1	9947	genome.wustl.edu	37	X	140994824	140994824	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:140994824C>A	ENST00000285879.4	+	4	1920	c.1634C>A	c.(1633-1635)cCt>cAt	p.P545H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	545										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCTGTCTCCTCACTACTTT	0.562										HNSCC(15;0.026)																																							0													175.0	186.0	182.0					X																	140994824		2203	4300	6503	SO:0001583	missense	0			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1634C>A	X.37:g.140994824C>A	ENSP00000285879:p.Pro545His		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.P545H	ENST00000285879.4	37	c.1634	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	c	8.563	0.878220	0.17395	.	.	ENSG00000155495	ENST00000285879	T	0.08896	3.04	0.96	-1.92	0.07618	.	.	.	.	.	T	0.09555	0.0235	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	D	0.77557	0.99	T	0.28364	-1.0046	9	0.87932	D	0	.	5.3893	0.16236	0.5594:0.4406:0.0:0.0	.	545	O60732	MAGC1_HUMAN	H	545	ENSP00000285879:P545H	ENSP00000285879:P545H	P	+	2	0	MAGEC1	140822490	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.099000	0.11007	-1.116000	0.02969	-1.104000	0.02111	CCT	MAGEC1	-	NULL	ENSG00000155495		0.562	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	0.00	43	0	C	NM_005462		140994824	+1	tier1	-	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	71.88	9	23	SNP	0.001	A
MAGEA10	4109	genome.wustl.edu	37	X	151303084	151303084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:151303084C>A	ENST00000370323.4	-	4	1325	c.1009G>T	c.(1009-1011)Gag>Tag	p.E337*	MAGEA10_ENST00000244096.3_Nonsense_Mutation_p.E337*|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	337						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTCTTCCTCATCTTTCAAA	0.473																																																	0													185.0	157.0	166.0					X																	151303084		2203	4300	6503	SO:0001587	stop_gained	0				CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.1009G>T	X.37:g.151303084C>A	ENSP00000359347:p.Glu337*			Nonsense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.E337*	ENST00000370323.4	37	c.1009	CCDS14705.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.264936	0.97426	.	.	ENSG00000124260	ENST00000370323;ENST00000244096	.	.	.	2.18	1.26	0.21427	.	0.390556	0.23070	N	0.052261	.	.	.	.	.	.	0.34424	D	0.69782	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.9665	0.19328	0.0:0.6758:0.3242:0.0	.	.	.	.	X	337	.	ENSP00000244096:E337X	E	-	1	0	MAGEA10	151053740	0.000000	0.05858	0.002000	0.10522	0.738000	0.42128	0.124000	0.15728	0.332000	0.23536	0.292000	0.19580	GAG	MAGEA10	-	NULL	ENSG00000124260		0.473	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGEA10	HGNC	protein_coding	OTTHUMT00000060916.3		0.00	26	0	C	NM_021048		151303084	-1			no_errors	ENST00000244096	ensembl	human	known	74_37	nonsense	10.00	27	3	SNP	0.002	A
MAGI2	9863	genome.wustl.edu	37	7	77797325	77797325	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:77797325C>T	ENST00000354212.4	-	15	2757	c.2504G>A	c.(2503-2505)gGc>gAc	p.G835D	MAGI2_ENST00000522391.1_Missense_Mutation_p.G835D|MAGI2_ENST00000419488.1_Missense_Mutation_p.G821D	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	835	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGGGTTTTGCCGGCTACTGG	0.537																																																	0													165.0	148.0	154.0					7																	77797325		2203	4300	6503	SO:0001583	missense	0			AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2504G>A	7.37:g.77797325C>T	ENSP00000346151:p.Gly835Asp		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.G835D	ENST00000354212.4	37	c.2504	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.441528	0.96187	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.52983	0.64;0.78;0.78	5.96	5.96	0.96718	PDZ/DHR/GLGF (4);	0.000000	0.37261	U	0.002175	T	0.62612	0.2442	L	0.39692	1.235	0.80722	D	1	D;D;D	0.76494	0.978;0.999;0.993	P;D;P	0.73708	0.831;0.981;0.831	T	0.60459	-0.7259	10	0.54805	T	0.06	.	19.4074	0.94653	0.0:1.0:0.0:0.0	.	835;821;835	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	D	821;835;835;835	ENSP00000405766:G821D;ENSP00000346151:G835D;ENSP00000428389:G835D	ENSP00000346151:G835D	G	-	2	0	MAGI2	77635261	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.831000	0.97527	0.650000	0.86243	GGC	MAGI2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000187391		0.537	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	HGNC	protein_coding	OTTHUMT00000253197.3		0.00	123	0	C	NM_012301		77797325	-1			no_errors	ENST00000354212	ensembl	human	known	74_37	missense	5.95	79	5	SNP	1.000	T
MAMDC4	158056	genome.wustl.edu	37	9	139753253	139753253	+	Silent	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139753253C>A	ENST00000317446.2	+	23	2954	c.2904C>A	c.(2902-2904)acC>acA	p.T968T	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000445819.1_Silent_p.T1047T	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TGCCGGCCACCCCAGCCTCCT	0.682																																																	0													15.0	18.0	17.0					9																	139753253		2187	4289	6476	SO:0001819	synonymous_variant	0			AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.2904C>A	9.37:g.139753253C>A				Silent	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt	p.T1047	ENST00000317446.2	37	c.3141	CCDS7010.1	9	.	.	.	.	.	.	.	.	.	.	.	3.318	-0.139265	0.06669	.	.	ENSG00000177943	ENST00000413647	.	.	.	5.05	-4.97	0.03029	.	.	.	.	.	T	0.18882	0.0453	.	.	.	0.24316	N	0.995067	.	.	.	.	.	.	T	0.28427	-1.0044	4	.	.	.	-34.3167	3.7363	0.08511	0.1003:0.4249:0.099:0.3759	.	.	.	.	T	1033	.	.	P	+	1	0	MAMDC4	138873074	0.000000	0.05858	0.001000	0.08648	0.356000	0.29392	-2.578000	0.00908	-0.925000	0.03775	0.561000	0.74099	CCC	MAMDC4	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000177943		0.682	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	MAMDC4	HGNC	protein_coding	OTTHUMT00000254642.3	-	0.00	10	0	C	NM_206920		139753253	+1	tier1	-	no_errors	ENST00000445819	ensembl	human	known	74_37	silent	50.00	6	6	SNP	0.001	A
MAML3	55534	genome.wustl.edu	37	4	140810429	140810429	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:140810429G>T	ENST00000398940.1	-	4	740	c.741C>A	c.(739-741)tcC>tcA	p.S247S	MAML3_ENST00000327122.5_Intron|MAML3_ENST00000509479.2_Intron					mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CCACTACAGTGGAAGCTTGTA	0.458																																																	0													203.0	182.0	189.0					4																	140810429		876	1991	2867	SO:0001819	synonymous_variant	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.741C>A	4.37:g.140810429G>T				Silent	SNP	NULL	p.S247	ENST00000398940.1	37	c.741		4																																																																																			MAML3	-	NULL	ENSG00000196782		0.458	MAML3-202	KNOWN	basic	protein_coding	MAML3	HGNC	protein_coding		-	0.00	52	0	G			140810429	-1	tier1	-	no_errors	ENST00000398940	ensembl	human	known	74_37	silent	5.97	62	4	SNP	0.000	T
MAMLD1	10046	genome.wustl.edu	37	X	149638719	149638719	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:149638719G>A	ENST00000370401.2	+	4	1184	c.874G>A	c.(874-876)Gct>Act	p.A292T	MAMLD1_ENST00000426613.2_Missense_Mutation_p.A267T|MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000262858.5_Missense_Mutation_p.A292T|MAMLD1_ENST00000432680.2_Missense_Mutation_p.A267T			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	292					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCCTGTCGCTCTGCCCCC	0.587																																																	0													84.0	67.0	73.0					X																	149638719		2203	4300	6503	SO:0001583	missense	0			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.874G>A	X.37:g.149638719G>A	ENSP00000359428:p.Ala292Thr		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.A267T	ENST00000370401.2	37	c.799	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.141378	0.00332	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.63744	0.34;-0.06;0.34;0.34	5.23	-1.93	0.07594	.	0.655350	0.15184	N	0.275970	T	0.33323	0.0859	N	0.15975	0.35	0.09310	N	0.999999	B;B;B;B	0.10296	0.0;0.0;0.003;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.10337	-1.0634	9	.	.	.	-0.2041	2.7991	0.05409	0.3299:0.1337:0.4173:0.1192	.	254;267;267;292	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	T	254;292;267;292;267	ENSP00000359428:A292T;ENSP00000414517:A267T;ENSP00000262858:A292T;ENSP00000397438:A267T	.	A	+	1	0	MAMLD1	149389377	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	-0.512000	0.06313	-0.265000	0.09352	-0.513000	0.04457	GCT	MAMLD1	-	NULL	ENSG00000013619		0.587	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	-	0.00	8	0	G	NM_005491		149638719	+1	tier1	-	no_errors	ENST00000432680	ensembl	human	known	74_37	missense	81.82	2	9	SNP	0.000	A
MAN1A2	10905	genome.wustl.edu	37	1	118065513	118065513	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:118065513G>T	ENST00000356554.3	+	13	2595	c.1860G>T	c.(1858-1860)gaG>gaT	p.E620D		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	620					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TTAATACAGAGGCTCACCCTC	0.433																																					Ovarian(33;199 881 8228 13687 31538)												0													148.0	143.0	145.0					1																	118065513		2203	4299	6502	SO:0001583	missense	0			AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.1860G>T	1.37:g.118065513G>T	ENSP00000348959:p.Glu620Asp		Q9H510	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.E620D	ENST00000356554.3	37	c.1860	CCDS895.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.84|18.84	3.709565|3.709565	0.68730|0.68730	.|.	.|.	ENSG00000198162|ENSG00000198162	ENST00000356554;ENST00000329466;ENST00000422329|ENST00000421535	T;T|.	0.79749|.	-1.3;-1.3|.	5.93|5.93	3.87|3.87	0.44632|0.44632	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79429|0.79429	0.4444|0.4444	H|H	0.96889|0.96889	3.9|3.9	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.83617|0.83617	0.0137|0.0137	10|5	0.87932|.	D|.	0|.	-22.2168|-22.2168	8.277|8.277	0.31879|0.31879	0.225:0.0:0.775:0.0|0.225:0.0:0.775:0.0	.|.	620|.	O60476|.	MA1A2_HUMAN|.	D|C	620;154;59|187	ENSP00000348959:E620D;ENSP00000402416:E59D|.	ENSP00000358462:E154D|.	E|G	+|+	3|1	2|0	MAN1A2|MAN1A2	117867036|117867036	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.425000|3.425000	0.52771|0.52771	1.531000|1.531000	0.49152|0.49152	0.555000|0.555000	0.69702|0.69702	GAG|GGC	MAN1A2	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000198162		0.433	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A2	HGNC	protein_coding	OTTHUMT00000033593.1	-	0.00	76	0	G	NM_006699		118065513	+1	tier1	-	no_errors	ENST00000356554	ensembl	human	known	74_37	missense	8.00	69	6	SNP	1.000	T
MAP1B	4131	genome.wustl.edu	37	5	71494172	71494172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:71494172C>T	ENST00000296755.7	+	5	5288	c.4990C>T	c.(4990-4992)Cga>Tga	p.R1664*		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1664					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGACTTCAGTCGACAGTCTCC	0.498																																					Melanoma(17;367 822 11631 31730 47712)												0													103.0	103.0	103.0					5																	71494172		2203	4300	6503	SO:0001587	stop_gained	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4990C>T	5.37:g.71494172C>T	ENSP00000296755:p.Arg1664*		A2BDK5	Nonsense_Mutation	SNP	pfam_MAP1B_neuraxin	p.R1664*	ENST00000296755.7	37	c.4990	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	45	11.721844	0.99595	.	.	ENSG00000131711	ENST00000296755	.	.	.	5.02	2.85	0.33270	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0619	11.5078	0.50476	0.6016:0.3984:0.0:0.0	.	.	.	.	X	1664	.	ENSP00000296755:R1664X	R	+	1	2	MAP1B	71529928	0.991000	0.36638	0.972000	0.41901	0.979000	0.70002	2.961000	0.49168	1.207000	0.43291	0.462000	0.41574	CGA	MAP1B	-	NULL	ENSG00000131711		0.498	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6		0.00	29	0	C	NM_005909		71494172	+1			no_errors	ENST00000296755	ensembl	human	known	74_37	nonsense	17.65	14	3	SNP	1.000	T
MAP2K7	5609	genome.wustl.edu	37	19	7975078	7975078	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:7975078C>T	ENST00000397979.3	+	3	387				MAP2K7_ENST00000397981.3_Intron|MAP2K7_ENST00000545011.1_Missense_Mutation_p.R133C|CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397983.3_Intron	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7						activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						ATCCTGGGAGCGCCAGTGGGG	0.677																																																	0													22.0	25.0	24.0					19																	7975078		692	1591	2283	SO:0001627	intron_variant	0			AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.333+64C>T	19.37:g.7975078C>T			B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R133C	ENST00000397979.3	37	c.397	CCDS42491.1	19	.	.	.	.	.	.	.	.	.	.	C	5.119	0.207525	0.09704	.	.	ENSG00000076984	ENST00000545011	T	0.71103	-0.54	3.18	-6.36	0.01969	.	.	.	.	.	T	0.45756	0.1358	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28522	-1.0041	5	.	.	.	.	0.8001	0.01074	0.2342:0.3033:0.2577:0.2047	.	.	.	.	C	133	ENSP00000443946:R133C	.	R	+	1	0	MAP2K7	7881078	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.367000	0.02583	-2.618000	0.00441	-1.134000	0.01955	CGC	MAP2K7	-	NULL	ENSG00000076984		0.677	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	MAP2K7	HGNC	protein_coding	OTTHUMT00000267980.1	-	0.00	24	0	C			7975078	+1	tier1	-	no_errors	ENST00000545011	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.000	T
MAP3K1	4214	genome.wustl.edu	37	5	56177848	56177849	+	In_Frame_Ins	INS	-	-	CAA	rs570353965|rs10552703|rs398064829|rs5868032|rs532800605	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:56177848_56177849insCAA	ENST00000399503.3	+	14	2821_2822	c.2821_2822insCAA	c.(2821-2823)tca>tCAAca	p.949_950insT		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	949	Poly-Thr.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACCTTCTAGTTcaacaacaaca	0.416																																																	0																																										SO:0001652	inframe_insertion	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2843_2845dupCAA	5.37:g.56177855_56177857dupCAA	ENSP00000382423:p.Thr949_Thr949dup			In_Frame_Ins	INS	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom	p.945in_frame_insT	ENST00000399503.3	37	c.2821_2822	CCDS43318.1	5																																																																																			MAP3K1	-	NULL	ENSG00000095015		0.416	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2		0.00	25	0	-	XM_042066		56177849	+1	tier1		no_errors	ENST00000399503	ensembl	human	novel	74_37	in_frame_ins	19.35	25	6	INS	0.964:0.958	CAA
MAP3K5	4217	genome.wustl.edu	37	6	136972139	136972139	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:136972139C>T	ENST00000359015.4	-	11	2131	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M	MAP3K5_ENST00000355845.4_De_novo_Start_OutOfFrame	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	591					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCAGGAAGCACGTGCCAAATA	0.348																																																	0													141.0	117.0	125.0					6																	136972139		2203	4300	6503	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1771G>A	6.37:g.136972139C>T	ENSP00000351908:p.Val591Met		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V591M	ENST00000359015.4	37	c.1771	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408446	0.83340	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.72505	-0.66	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.83681	0.5307	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.968;0.992	D	0.86624	0.1881	10	0.72032	D	0.01	.	18.0995	0.89501	0.0:1.0:0.0:0.0	.	671;591	Q59GL6;Q99683	.;M3K5_HUMAN	M	591;671	ENSP00000351908:V591M	ENSP00000351908:V591M	V	-	1	0	MAP3K5	137013832	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	7.228000	0.78079	2.329000	0.79093	0.650000	0.86243	GTG	MAP3K5	-	NULL	ENSG00000197442		0.348	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	-	0.00	69	0	C			136972139	-1	tier1	-	no_errors	ENST00000359015	ensembl	human	known	74_37	missense	38.10	26	16	SNP	1.000	T
MAP3K5	4217	genome.wustl.edu	37	6	137019800	137019800	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:137019800G>T	ENST00000359015.4	-	4	993	c.633C>A	c.(631-633)acC>acA	p.T211T		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	211					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AAGGAACAAAGGTGTAGTTCC	0.517																																																	0													114.0	101.0	105.0					6																	137019800		2203	4300	6503	SO:0001819	synonymous_variant	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.633C>A	6.37:g.137019800G>T			A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T211	ENST00000359015.4	37	c.633	CCDS5179.1	6																																																																																			MAP3K5	-	NULL	ENSG00000197442		0.517	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	-	0.00	37	0	G			137019800	-1	tier1	-	no_errors	ENST00000359015	ensembl	human	known	74_37	silent	38.24	21	13	SNP	0.750	T
MAP3K5	4217	genome.wustl.edu	37	6	137018373	137018373	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:137018373G>T	ENST00000359015.4	-	5	1319	c.959C>A	c.(958-960)tCc>tAc	p.S320Y		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	320					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.S320Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATCTCTGTAGGAAAGTAACAG	0.388																																																	1	Substitution - Missense(1)	skin(1)											82.0	86.0	85.0					6																	137018373		2202	4300	6502	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.959C>A	6.37:g.137018373G>T	ENSP00000351908:p.Ser320Tyr		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S320Y	ENST00000359015.4	37	c.959	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534545	0.85812	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.20463	2.07	5.53	5.53	0.82687	.	0.109580	0.64402	D	0.000005	T	0.46541	0.1398	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.995	D;D;D	0.80764	0.994;0.964;0.929	T	0.50541	-0.8816	10	0.87932	D	0	.	19.8086	0.96539	0.0:0.0:1.0:0.0	.	400;165;320	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	Y	320;400	ENSP00000351908:S320Y	ENSP00000351908:S320Y	S	-	2	0	MAP3K5	137060066	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.420000	0.97426	2.759000	0.94783	0.591000	0.81541	TCC	MAP3K5	-	NULL	ENSG00000197442		0.388	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1		0.00	25	0	G			137018373	-1			no_errors	ENST00000359015	ensembl	human	known	74_37	missense	14.29	12	2	SNP	1.000	T
MAP3K5	4217	genome.wustl.edu	37	6	137113057	137113057	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:137113057C>T	ENST00000359015.4	-	1	599	c.239G>A	c.(238-240)cGg>cAg	p.R80Q		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	80					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGAGCTGCCCCGGCCTCGGGT	0.711																																																	0													20.0	23.0	22.0					6																	137113057		2202	4288	6490	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.239G>A	6.37:g.137113057C>T	ENSP00000351908:p.Arg80Gln		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R80Q	ENST00000359015.4	37	c.239	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931383	0.34096	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.69175	-0.38	4.67	3.8	0.43715	.	0.457306	0.20459	N	0.091924	T	0.30665	0.0772	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12477	-1.0546	10	0.25106	T	0.35	.	9.0404	0.36314	0.0:0.7197:0.194:0.0862	.	80	Q99683	M3K5_HUMAN	Q	80;160	ENSP00000351908:R80Q	ENSP00000351908:R80Q	R	-	2	0	MAP3K5	137154750	0.969000	0.33509	1.000000	0.80357	0.489000	0.33432	3.692000	0.54727	1.070000	0.40811	-0.218000	0.12543	CGG	MAP3K5	-	NULL	ENSG00000197442		0.711	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	-	0.00	63	0	C			137113057	-1	tier1	-	no_errors	ENST00000359015	ensembl	human	known	74_37	missense	43.33	33	26	SNP	0.986	T
MAP3K6	9064	genome.wustl.edu	37	1	27684951	27684951	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:27684951C>T	ENST00000493901.1	-	21	2974	c.2735G>A	c.(2734-2736)aGc>aAc	p.S912N	MAP3K6_ENST00000374040.3_Missense_Mutation_p.S904N|MAP3K6_ENST00000357582.2_Missense_Mutation_p.S912N	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	912					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGCTGCGGCTCCTTTTCCC	0.672																																																	0													27.0	34.0	31.0					1																	27684951		2190	4282	6472	SO:0001583	missense	0			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2735G>A	1.37:g.27684951C>T	ENSP00000419591:p.Ser912Asn		A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S912N	ENST00000493901.1	37	c.2735	CCDS299.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.01|15.01	2.705774|2.705774	0.48412|0.48412	.|.	.|.	ENSG00000142733|ENSG00000142733	ENST00000472410|ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	.|T;T;T	.|0.24908	.|1.83;1.83;1.83	4.56|4.56	3.6|3.6	0.41247|0.41247	.|Protein kinase-like domain (1);	.|.	.|.	.|.	.|.	T|T	0.20740|0.20740	0.0499|0.0499	N|N	0.24115|0.24115	0.695|0.695	0.30533|0.30533	N|N	0.767247|0.767247	.|P;P	.|0.44816	.|0.844;0.759	.|P;B	.|0.46825	.|0.528;0.328	T|T	0.01670|0.01670	-1.1299|-1.1299	5|9	.|0.19147	.|T	.|0.46	.|.	10.2323|10.2323	0.43262|0.43262	0.0:0.7154:0.2846:0.0|0.0:0.7154:0.2846:0.0	.|.	.|904;912	.|O95382-3;O95382	.|.;M3K6_HUMAN	T|N	636|904;912;635;912	.|ENSP00000363152:S904N;ENSP00000419591:S912N;ENSP00000350195:S912N	.|ENSP00000350195:S912N	A|S	-|-	1|2	0|0	MAP3K6|MAP3K6	27557538|27557538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	1.641000|1.641000	0.37197|0.37197	2.379000|2.379000	0.81126|0.81126	0.655000|0.655000	0.94253|0.94253	GCC|AGC	MAP3K6	-	superfamily_Kinase-like_dom	ENSG00000142733		0.672	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	HGNC	protein_coding	OTTHUMT00000013469.2	-	0.00	40	0	C	NM_004672		27684951	-1	tier1	-	no_errors	ENST00000357582	ensembl	human	known	74_37	missense	41.18	20	14	SNP	1.000	T
MAP3K7	6885	genome.wustl.edu	37	6	91246115	91246115	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:91246115C>T	ENST00000369329.3	-	13	1458	c.1297G>A	c.(1297-1299)Gga>Aga	p.G433R	MAP3K7_ENST00000369320.1_Missense_Mutation_p.G87R|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369332.3_Missense_Mutation_p.G406R|MAP3K7_ENST00000369327.3_Missense_Mutation_p.G406R|MAP3K7_ENST00000369325.3_Missense_Mutation_p.G433R	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	433					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.G406*(1)|p.G433*(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTTGGCTGTCCGTTGCCTTTA	0.363																																																	2	Substitution - Nonsense(2)	lung(2)											94.0	88.0	90.0					6																	91246115		2203	4300	6503	SO:0001583	missense	0			AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1297G>A	6.37:g.91246115C>T	ENSP00000358335:p.Gly433Arg		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_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_dom	p.G433R	ENST00000369329.3	37	c.1297	CCDS5028.1	6	.	.	.	.	.	.	.	.	.	.	C	14.36	2.511719	0.44660	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000369320;ENST00000450832	T;T;T;T	0.76578	-0.99;-0.96;-1.03;-1.03	5.73	4.86	0.63082	.	0.201216	0.52532	D	0.000074	T	0.54143	0.1840	N	0.22421	0.69	0.51233	D	0.999918	D;P;B;B	0.53619	0.961;0.759;0.008;0.002	B;B;B;B	0.40477	0.33;0.086;0.004;0.0	T	0.59752	-0.7395	10	0.38643	T	0.18	.	16.5767	0.84681	0.0:0.8696:0.1304:0.0	.	406;406;433;433	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	R	406;433;433;406;87;333	ENSP00000358338:G406R;ENSP00000358335:G433R;ENSP00000358331:G433R;ENSP00000358333:G406R	ENSP00000358326:G87R	G	-	1	0	MAP3K7	91302836	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.161000	0.64935	1.411000	0.46957	0.650000	0.86243	GGA	MAP3K7	-	pirsf_MAPKKK7	ENSG00000135341		0.363	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K7	HGNC	protein_coding	OTTHUMT00000041530.1	-	0.00	22	0	C	NM_145331		91246115	-1	tier1	-	no_errors	ENST00000369329	ensembl	human	known	74_37	missense	58.33	10	14	SNP	1.000	T
MAP4K5	11183	genome.wustl.edu	37	14	50886759	50886759	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:50886759G>T	ENST00000013125.4	-	32	2837	c.2519C>A	c.(2518-2520)gCt>gAt	p.A840D		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	840					activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TTCATGTCCAGCCAAGATGTA	0.353																																																	0													111.0	97.0	102.0					14																	50886759		1882	4114	5996	SO:0001583	missense	0			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.2519C>A	14.37:g.50886759G>T	ENSP00000013125:p.Ala840Asp		Q8IYF6	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.A840D	ENST00000013125.4	37	c.2519		14	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364468	0.61513	.	.	ENSG00000012983	ENST00000013125	T	0.74632	-0.86	5.72	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.85093	0.5618	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.996;0.999	P;D	0.83275	0.885;0.996	D	0.86881	0.2042	10	0.72032	D	0.01	.	16.7197	0.85407	0.0:0.1295:0.8705:0.0	.	840;840	B2R928;Q9Y4K4	.;M4K5_HUMAN	D	840	ENSP00000013125:A840D	ENSP00000013125:A840D	A	-	2	0	MAP4K5	49956509	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	9.688000	0.98670	1.406000	0.46857	-0.302000	0.09304	GCT	MAP4K5	-	NULL	ENSG00000012983		0.353	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	-	0.00	46	0	G	NM_006575		50886759	-1	tier1	-	no_errors	ENST00000013125	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
MAPK8IP3	23162	genome.wustl.edu	37	16	1798334	1798334	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:1798334C>T	ENST00000250894.4	+	7	1238	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	MAPK8IP3_ENST00000568271.1_3'UTR|MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R361C	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	361					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCGCCTGGACCGCACAGGAAG	0.582																																																	0													40.0	41.0	40.0					16																	1798334		1958	4139	6097	SO:0001583	missense	0			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.1081C>T	16.37:g.1798334C>T	ENSP00000250894:p.Arg361Cys		A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.R361C	ENST00000250894.4	37	c.1081	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189509	0.57909	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.32988	1.43;1.47	5.17	5.17	0.71159	.	0.055990	0.64402	D	0.000001	T	0.45074	0.1324	L	0.47716	1.5	0.80722	D	1	D;D;D	0.76494	0.997;0.997;0.999	P;P;P	0.56216	0.676;0.772;0.794	T	0.41840	-0.9486	10	0.87932	D	0	-31.0839	18.6245	0.91332	0.0:1.0:0.0:0.0	.	362;361;361	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	C	361	ENSP00000250894:R361C;ENSP00000348290:R361C	ENSP00000250894:R361C	R	+	1	0	MAPK8IP3	1738335	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.067000	0.71193	2.568000	0.86640	0.579000	0.79373	CGC	MAPK8IP3	-	NULL	ENSG00000138834		0.582	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	-	0.00	43	0	C	NM_001040439		1798334	+1	tier1	-	no_errors	ENST00000250894	ensembl	human	known	74_37	missense	42.42	19	14	SNP	1.000	T
MAPK8IP3	23162	genome.wustl.edu	37	16	1818241	1818241	+	Frame_Shift_Del	DEL	G	G	-	rs566096469	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:1818241delG	ENST00000250894.4	+	30	3758	c.3601delG	c.(3601-3603)gggfs	p.G1202fs	MAPK8IP3_ENST00000356010.5_Frame_Shift_Del_p.G1196fs	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1202					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CGCCCGTCCCGGGGGCATCAT	0.642																																																	0													61.0	70.0	67.0					16																	1818241		2085	4208	6293	SO:0001589	frameshift_variant	0			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3601delG	16.37:g.1818241delG	ENSP00000250894:p.Gly1202fs		A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Frame_Shift_Del	DEL	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.G1202fs	ENST00000250894.4	37	c.3601	CCDS10442.2	16																																																																																			MAPK8IP3	-	NULL	ENSG00000138834		0.642	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2		0.00	65	0	G	NM_001040439		1818241	+1	tier1		no_errors	ENST00000250894	ensembl	human	known	74_37	frame_shift_del	26.67	33	12	DEL	0.844	-
MAPKAP1	79109	genome.wustl.edu	37	9	128327728	128327728	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:128327728delT	ENST00000373498.1	-	5	740				MAPKAP1_ENST00000394060.3_Intron|RP11-12A16.3_ENST00000437097.1_RNA|MAPKAP1_ENST00000394063.1_Intron|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000265960.3_Intron|MAPKAP1_ENST00000350766.3_Intron|MAPKAP1_ENST00000373503.3_Intron|MAPKAP1_ENST00000373511.2_Intron			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						ATGCTTATTGTTTTTTTTTTA	0.294																																																	0																																										SO:0001627	intron_variant	0			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.672-5640A>-	9.37:g.128327728delT			A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	RNA	DEL	-	NULL	ENST00000373498.1	37	NULL	CCDS35140.1	9																																																																																			MAPKAP1	-	-	ENSG00000119487		0.294	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	MAPKAP1	HGNC	protein_coding	OTTHUMT00000054092.1		0.00	9	0	T			128327728	-1	tier1		no_errors	ENST00000448439	ensembl	human	known	74_37	rna	63.64	4	7	DEL	0.003	-
MAPKAP1	79109	genome.wustl.edu	37	9	128347905	128347905	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:128347905G>A	ENST00000373498.1	-	4	668	c.600C>T	c.(598-600)agC>agT	p.S200S	MAPKAP1_ENST00000394060.3_Silent_p.S200S|MAPKAP1_ENST00000394063.1_Silent_p.S8S|MAPKAP1_ENST00000373497.5_Silent_p.S8S|MAPKAP1_ENST00000265960.3_Silent_p.S200S|MAPKAP1_ENST00000350766.3_Silent_p.S200S|MAPKAP1_ENST00000373503.3_Silent_p.S8S|MAPKAP1_ENST00000373511.2_Silent_p.S200S			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	200	Interaction with NBN.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GCACCCTGGCGCTGGCCATTG	0.547																																																	0													162.0	116.0	131.0					9																	128347905		2203	4300	6503	SO:0001819	synonymous_variant	0			M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.600C>T	9.37:g.128347905G>A			A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Silent	SNP	pfam_SIN1	p.S200	ENST00000373498.1	37	c.600	CCDS35140.1	9																																																																																			MAPKAP1	-	pfam_SIN1	ENSG00000119487		0.547	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	MAPKAP1	HGNC	protein_coding	OTTHUMT00000054092.1	-	0.00	108	0	G			128347905	-1	tier1	-	no_errors	ENST00000265960	ensembl	human	known	74_37	silent	43.75	53	42	SNP	0.918	A
MAPKAPK2	9261	genome.wustl.edu	37	1	206904645	206904646	+	Intron	DEL	GT	GT	-	rs184349902|rs368231892	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:206904645_206904646delGT	ENST00000367103.3	+	7	1085				MAPKAPK2_ENST00000479009.1_3'UTR|MAPKAPK2_ENST00000294981.4_Intron	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2						3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GGAAGAGCCCgtgtgtgtgtgt	0.525																																																	0																																										SO:0001627	intron_variant	0			U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.892+38GT>-	1.37:g.206904655_206904656delGT			Q5SY30|Q5SY41|Q8IYD6	RNA	DEL	-	NULL	ENST00000367103.3	37	NULL	CCDS31001.1	1																																																																																			MAPKAPK2	-	-	ENSG00000162889		0.525	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPKAPK2	HGNC	protein_coding	OTTHUMT00000088465.1		0.00	18	0	GT	NM_004759		206904646	+1	tier1		no_errors	ENST00000479009	ensembl	human	putative	74_37	rna	23.08	20	6	DEL	0.000:0.000	-
MAPKBP1	23005	genome.wustl.edu	37	15	42105843	42105843	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:42105843G>A	ENST00000456763.2	+	10	1058	c.862G>A	c.(862-864)Gtg>Atg	p.V288M	MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.V170M|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.V282M|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.V282M	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	288										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTGCATCTCTGTGAGCCAAGA	0.592																																																	0													167.0	148.0	154.0					15																	42105843		2203	4300	6503	SO:0001583	missense	0			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.862G>A	15.37:g.42105843G>A	ENSP00000393099:p.Val288Met		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V288M	ENST00000456763.2	37	c.862	CCDS45239.1	15	.	.	.	.	.	.	.	.	.	.	g	20.2	3.942810	0.73672	.	.	ENSG00000137802	ENST00000457542;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.64	5.64	0.86602	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.245630	0.39687	N	0.001292	T	0.77198	0.4095	M	0.75615	2.305	0.47341	D	0.999398	D;D;D;D	0.76494	0.999;0.99;0.996;0.994	D;D;D;D	0.77004	0.982;0.918;0.989;0.967	T	0.78061	-0.2351	10	0.59425	D	0.04	-15.2649	19.3199	0.94234	0.0:0.0:1.0:0.0	.	170;282;288;282	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	M	282;170;288;282	ENSP00000397570:V282M;ENSP00000260357:V170M;ENSP00000393099:V288M;ENSP00000426154:V282M	ENSP00000260357:V170M	V	+	1	0	MAPKBP1	39893135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.598000	0.67585	2.655000	0.90218	0.651000	0.88453	GTG	MAPKBP1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000137802		0.592	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1	-	0.00	72	0	G	NM_014994		42105843	+1	tier1	-	no_errors	ENST00000456763	ensembl	human	known	74_37	missense	35.71	36	20	SNP	1.000	A
MAPKBP1	23005	genome.wustl.edu	37	15	42115240	42115240	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:42115240G>T	ENST00000456763.2	+	29	3632	c.3436G>T	c.(3436-3438)Gga>Tga	p.G1146*	MAPKBP1_ENST00000221214.6_Nonsense_Mutation_p.G1023*|RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000260357.7_Nonsense_Mutation_p.G979*|MAPKBP1_ENST00000514566.1_Intron|MAPKBP1_ENST00000457542.2_Nonsense_Mutation_p.G1140*|RP11-23P13.4_ENST00000512295.1_RNA	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1146										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CAATCCCCCTGGAGCACCCCC	0.647																																																	0													50.0	44.0	46.0					15																	42115240		2203	4300	6503	SO:0001587	stop_gained	0			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.3436G>T	15.37:g.42115240G>T	ENSP00000393099:p.Gly1146*		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1146*	ENST00000456763.2	37	c.3436	CCDS45239.1	15	.	.	.	.	.	.	.	.	.	.	.	43	10.302082	0.99379	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763	.	.	.	5.22	5.22	0.72569	.	0.495928	0.22787	N	0.055656	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-5.4331	14.1557	0.65417	0.0:0.0:1.0:0.0	.	.	.	.	X	1140;1023;979;1146	.	ENSP00000221214:G1023X	G	+	1	0	MAPKBP1	39902532	0.996000	0.38824	0.975000	0.42487	0.660000	0.38997	3.105000	0.50314	2.714000	0.92807	0.561000	0.74099	GGA	MAPKBP1	-	NULL	ENSG00000137802		0.647	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	HGNC	protein_coding	OTTHUMT00000359745.1	-	0.00	53	0	G	NM_014994		42115240	+1	tier1	-	no_errors	ENST00000456763	ensembl	human	known	74_37	nonsense	10.00	36	4	SNP	0.985	T
MAPRE3	22924	genome.wustl.edu	37	2	27248516	27248517	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:27248516_27248517insC	ENST00000233121.2	+	5	733_734	c.535_536insC	c.(535-537)gccfs	p.A179fs	MAPRE3_ENST00000402218.1_Frame_Shift_Ins_p.A164fs|MAPRE3_ENST00000405074.3_Frame_Shift_Ins_p.A164fs			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	179					mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)	p.C182fs*16(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCAATGTGGCCCCCCCCTGC	0.564																																																	2	Insertion - Frameshift(2)	ovary(1)|large_intestine(1)								39,4227		0,39,2094						4.4	1.0			60	29,8225		0,29,4098	no	frameshift	MAPRE3	NM_012326.2		0,68,6192	A1A1,A1R,RR		0.3513,0.9142,0.5431				68,12452				SO:0001589	frameshift_variant	0			Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.543dupC	2.37:g.27248524_27248524dupC	ENSP00000233121:p.Ala179fs		B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Frame_Shift_Ins	INS	pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain	p.C182fs	ENST00000233121.2	37	c.535_536	CCDS1731.1	2																																																																																			MAPRE3	-	NULL	ENSG00000084764		0.564	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPRE3	HGNC	protein_coding	OTTHUMT00000214183.1		0.00	40	0	-	NM_012326		27248517	+1	tier1		no_errors	ENST00000233121	ensembl	human	known	74_37	frame_shift_ins	31.82	30	14	INS	0.999:1.000	C
MARK1	4139	genome.wustl.edu	37	1	220825486	220825486	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:220825486G>T	ENST00000366917.4	+	15	1996	c.1730G>T	c.(1729-1731)cGg>cTg	p.R577L	MARK1_ENST00000366918.4_Missense_Mutation_p.R555L|MARK1_ENST00000402574.1_Missense_Mutation_p.R442L					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GAAGCTTACCGGCCTGGGTAA	0.438																																																	0													122.0	114.0	117.0					1																	220825486		2203	4300	6503	SO:0001583	missense	0			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1730G>T	1.37:g.220825486G>T	ENSP00000355884:p.Arg577Leu			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.R577L	ENST00000366917.4	37	c.1730	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802659	0.70682	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.28666	1.6;1.6;1.6	5.74	5.74	0.90152	.	0.143972	0.49305	D	0.000149	T	0.32041	0.0816	L	0.46157	1.445	0.48511	D	0.999668	B;B;B;B	0.30104	0.268;0.081;0.0;0.001	B;B;B;B	0.25506	0.061;0.045;0.002;0.001	T	0.04781	-1.0927	10	0.51188	T	0.08	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	577;442;577;555	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	L	442;555;577	ENSP00000386017:R442L;ENSP00000355885:R555L;ENSP00000355884:R577L	ENSP00000355884:R577L	R	+	2	0	MARK1	218892109	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.861000	0.69553	2.873000	0.98535	0.563000	0.77884	CGG	MARK1	-	NULL	ENSG00000116141		0.438	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	-	0.00	64	0	G			220825486	+1	tier1	-	no_errors	ENST00000366917	ensembl	human	known	74_37	missense	6.52	86	6	SNP	1.000	T
MARK2	2011	genome.wustl.edu	37	11	63665754	63665754	+	Splice_Site	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:63665754T>C	ENST00000509502.2	+	4	701		c.e4+2		MARK2_ENST00000361128.5_Splice_Site|MARK2_ENST00000508192.1_Splice_Site|MARK2_ENST00000408948.3_Splice_Site|MARK2_ENST00000402010.2_Splice_Site|MARK2_ENST00000377810.3_Splice_Site|MARK2_ENST00000350490.7_Splice_Site|MARK2_ENST00000425897.2_Splice_Site|MARK2_ENST00000315032.8_Splice_Site|MARK2_ENST00000413835.2_Splice_Site|MARK2_ENST00000377809.4_Splice_Site|MARK2_ENST00000513765.2_Splice_Site|MARK2_ENST00000502399.3_Splice_Site	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCAACATAGGTGAGCACAAGT	0.478																																																	0													185.0	177.0	180.0					11																	63665754		2201	4297	6498	SO:0001630	splice_region_variant	0			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.238+2T>C	11.37:g.63665754T>C				Splice_Site	SNP	-	e4+2	ENST00000509502.2	37	c.337+2	CCDS41665.1	11	.	.	.	.	.	.	.	.	.	.	T	20.6	4.017753	0.75161	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000543220;ENST00000540169;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1235	0.65205	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MARK2	63422330	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	7.849000	0.86908	2.171000	0.68590	0.460000	0.39030	.	MARK2	-	-	ENSG00000072518		0.478	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	-	0.00	54	0	T	NM_017490	Intron	63665754	+1	tier1	-	no_errors	ENST00000402010	ensembl	human	known	74_37	splice_site	44.44	20	16	SNP	1.000	C
MARK4	57787	genome.wustl.edu	37	19	45790780	45790780	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:45790780G>A	ENST00000262891.4	+	13	1683	c.1352G>A	c.(1351-1353)cGg>cAg	p.R451Q	MARK4_ENST00000300843.4_Missense_Mutation_p.R451Q	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	451					microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AAGGAGGAGCGGCTGCCAGGC	0.711																																																	0													15.0	18.0	17.0					19																	45790780		2179	4273	6452	SO:0001583	missense	0			AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1352G>A	19.37:g.45790780G>A	ENSP00000262891:p.Arg451Gln		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.R451Q	ENST00000262891.4	37	c.1352	CCDS56097.1	19	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741352	0.49151	.	.	ENSG00000007047	ENST00000262891;ENST00000300843	T;T	0.28895	1.59;1.59	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000001	T	0.36826	0.0981	L	0.58101	1.795	0.49582	D	0.999802	B;D;D	0.56521	0.015;0.96;0.976	B;B;P	0.49140	0.004;0.397;0.601	T	0.07481	-1.0770	10	0.12430	T	0.62	.	15.9528	0.79855	0.0:0.0:1.0:0.0	.	317;451;451	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	Q	451	ENSP00000262891:R451Q;ENSP00000300843:R451Q	ENSP00000262891:R451Q	R	+	2	0	MARK4	50482620	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.909000	0.75735	2.645000	0.89757	0.591000	0.81541	CGG	MARK4	-	NULL	ENSG00000007047		0.711	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK4	HGNC	protein_coding	OTTHUMT00000457537.1	-	0.00	47	0	G	NM_031417		45790780	+1	tier1	-	no_errors	ENST00000262891	ensembl	human	known	74_37	missense	41.67	21	15	SNP	1.000	A
MARS	4141	genome.wustl.edu	37	12	57894297	57894297	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:57894297G>A	ENST00000262027.5	+	10	1419	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	MARS_ENST00000315473.5_Missense_Mutation_p.E195K|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	429					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CAATGCTGTCGAGCTTAAGGT	0.542																																																	0													99.0	84.0	89.0					12																	57894297		2203	4300	6503	SO:0001583	missense	0			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1285G>A	12.37:g.57894297G>A	ENSP00000262027:p.Glu429Lys		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.E429K	ENST00000262027.5	37	c.1285	CCDS8942.1	12	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575059	0.86542	.	.	ENSG00000166986	ENST00000262027;ENST00000315473	T;T	0.52057	1.14;0.68	5.35	5.35	0.76521	Aminoacyl-tRNA synthetase, class I (M) (1);	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	M	0.84156	2.68	0.80722	D	1	P;D;D	0.61697	0.877;0.99;0.975	B;P;P	0.58721	0.284;0.844;0.746	T	0.74038	-0.3793	10	0.87932	D	0	-22.2553	18.2166	0.89887	0.0:0.0:1.0:0.0	.	195;302;429	A6NC17;B4E0E9;P56192	.;.;SYMC_HUMAN	K	429;195	ENSP00000262027:E429K;ENSP00000314653:E195K	ENSP00000262027:E429K	E	+	1	0	MARS	56180564	1.000000	0.71417	0.963000	0.40424	0.362000	0.29581	9.160000	0.94734	2.667000	0.90743	0.563000	0.77884	GAG	MARS	-	pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth	ENSG00000166986		0.542	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	-	0.00	41	0	G	NM_004990		57894297	+1	tier1	-	no_errors	ENST00000262027	ensembl	human	known	74_37	missense	35.00	26	14	SNP	1.000	A
MARS2	92935	genome.wustl.edu	37	2	198571219	198571219	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:198571219C>T	ENST00000282276.6	+	1	1133	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	364					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTGCCTTAACCGCTATACCGT	0.542																																																	0													406.0	359.0	375.0					2																	198571219		2203	4300	6503	SO:0001583	missense	0			BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.1090C>T	2.37:g.198571219C>T	ENSP00000282276:p.Arg364Cys		A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.R364C	ENST00000282276.6	37	c.1090	CCDS33358.1	2	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159474	0.57368	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.48522	0.81	5.45	4.55	0.56014	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.658233	0.15009	N	0.285663	T	0.69006	0.3063	M	0.91249	3.19	0.28330	N	0.921815	D	0.60160	0.987	P	0.55303	0.773	T	0.68511	-0.5389	10	0.87932	D	0	-6.7822	13.4479	0.61151	0.1566:0.8434:0.0:0.0	.	364	Q96GW9	SYMM_HUMAN	C	364;291	ENSP00000282276:R364C	ENSP00000282276:R364C	R	+	1	0	MARS2	198279464	0.617000	0.27043	0.980000	0.43619	0.990000	0.78478	1.830000	0.39131	2.575000	0.86900	0.655000	0.94253	CGC	MARS2	-	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,tigrfam_Met-tRNA_synth	ENSG00000247626		0.542	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS2	HGNC	protein_coding	OTTHUMT00000335477.1	-	0.00	130	0	C	NM_138395		198571219	+1	tier1	-	no_errors	ENST00000282276	ensembl	human	known	74_37	missense	32.97	61	30	SNP	0.345	T
MAST2	23139	genome.wustl.edu	37	1	46496366	46496366	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:46496366G>T	ENST00000361297.2	+	22	2924	c.2641G>T	c.(2641-2643)Gac>Tac	p.D881Y	MAST2_ENST00000372009.2_Missense_Mutation_p.D811Y	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGAGAAGGAGGACCATTCAGA	0.647																																																	0													21.0	24.0	23.0					1																	46496366		2045	4185	6230	SO:0001583	missense	0			AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.2641G>T	1.37:g.46496366G>T	ENSP00000354671:p.Asp881Tyr			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.D881Y	ENST00000361297.2	37	c.2641	CCDS41326.1	1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.947089	0.92593	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.67171	-0.2;-0.15;-0.25	4.86	4.86	0.63082	.	0.108348	0.64402	D	0.000012	T	0.78304	0.4262	M	0.76574	2.34	0.58432	D	0.999999	P;B;D;D	0.60575	0.936;0.001;0.979;0.988	P;B;P;P	0.56751	0.667;0.002;0.707;0.805	T	0.80801	-0.1220	10	0.56958	D	0.05	-14.3708	17.1568	0.86793	0.0:0.0:1.0:0.0	.	811;555;811;881	Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;MAST2_HUMAN	Y	881;811;555;766	ENSP00000354671:D881Y;ENSP00000361079:D811Y;ENSP00000361078:D766Y	ENSP00000354671:D881Y	D	+	1	0	MAST2	46268953	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.577000	0.82486	2.517000	0.84864	0.561000	0.74099	GAC	MAST2	-	NULL	ENSG00000086015		0.647	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	HGNC	protein_coding	OTTHUMT00000021977.1		0.00	66	0	G	NM_015112		46496366	+1			no_errors	ENST00000361297	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
MASTL	84930	genome.wustl.edu	37	10	27459056	27459056	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:27459056delA	ENST00000375940.4	+	8	1225	c.1168delA	c.(1168-1170)aaafs	p.K391fs	MASTL_ENST00000375946.4_Frame_Shift_Del_p.K391fs|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Frame_Shift_Del_p.K391fs			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	391	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)	p.C392fs*17(2)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAACCTTGCTAAAAAATGCTT	0.418																																																	2	Insertion - Frameshift(2)	large_intestine(1)|stomach(1)											99.0	99.0	99.0					10																	27459056		2203	4300	6503	SO:0001589	frameshift_variant	0			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1168delA	10.37:g.27459056delA	ENSP00000365107:p.Lys391fs		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K391fs	ENST00000375940.4	37	c.1168	CCDS53502.1	10																																																																																			MASTL	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000120539		0.418	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1		0.00	36	0	A	NM_032844		27459056	+1	tier1		no_errors	ENST00000375940	ensembl	human	known	74_37	frame_shift_del	26.32	14	5	DEL	0.077	-
MBD5	55777	genome.wustl.edu	37	2	149221353	149221353	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:149221353G>T	ENST00000407073.1	+	8	1259	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.E88*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	88					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GAGAACCGCAGAAGATGTTAA	0.368																																																	0													94.0	104.0	101.0					2																	149221353		2203	4299	6502	SO:0001587	stop_gained	0			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.262G>T	2.37:g.149221353G>T	ENSP00000386049:p.Glu88*		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Nonsense_Mutation	SNP	superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom	p.E88*	ENST00000407073.1	37	c.262	CCDS33302.1	2	.	.	.	.	.	.	.	.	.	.	G	46	12.845765	0.99700	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-8.8451	20.2825	0.98528	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000384672:E88X	E	+	1	0	MBD5	148937823	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.751000	0.98889	2.873000	0.98535	0.561000	0.74099	GAA	MBD5	-	smart_Methyl_CpG_DNA-bd	ENSG00000204406		0.368	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2		0.00	18	0	G			149221353	+1			no_errors	ENST00000407073	ensembl	human	known	74_37	nonsense	11.76	30	4	SNP	1.000	T
MBL1P	8512	genome.wustl.edu	37	10	81680652	81680652	+	RNA	SNP	G	G	T	rs78715669		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:81680652G>T	ENST00000480805.1	+	0	719					NR_002724.2				mannose-binding lectin (protein A) 1, pseudogene																		TTGAGCTTTTGGGGAAAAAAA	0.537																																																	0																																												0			AF019382		10q22.3	2012-11-02	2009-12-02	2009-12-02	ENSG00000242600	ENSG00000242600		"""Collectins"""	6921	pseudogene	pseudogene			"""mannose-binding lectin (protein A) 1, pseudogene 1"""	MBL1P1		9501312	Standard	NR_002724		Approved	COLEC3P	uc001kbg.1		OTTHUMG00000018595		10.37:g.81680652G>T				RNA	SNP	-	NULL	ENST00000480805.1	37	NULL		10																																																																																			MBL1P	-	-	ENSG00000242600		0.537	MBL1P-001	KNOWN	basic	processed_transcript	MBL1P	HGNC	pseudogene	OTTHUMT00000049017.1		0.00	61	0	G			81680652	+1			no_errors	ENST00000480805	ensembl	human	known	74_37	rna	14.75	52	9	SNP	0.000	T
MBL1P	8512	genome.wustl.edu	37	10	81680656	81680656	+	RNA	SNP	A	A	G	rs567381624	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:81680656A>G	ENST00000480805.1	+	0	723					NR_002724.2				mannose-binding lectin (protein A) 1, pseudogene																		GCTTTTGGGGAAAAAAAAAAG	0.542													A|||	2	0.000399361	0.0008	0.0	5008	,	,		16782	0.0		0.001	False		,,,				2504	0.0																0																																												0			AF019382		10q22.3	2012-11-02	2009-12-02	2009-12-02	ENSG00000242600	ENSG00000242600		"""Collectins"""	6921	pseudogene	pseudogene			"""mannose-binding lectin (protein A) 1, pseudogene 1"""	MBL1P1		9501312	Standard	NR_002724		Approved	COLEC3P	uc001kbg.1		OTTHUMG00000018595		10.37:g.81680656A>G				RNA	SNP	-	NULL	ENST00000480805.1	37	NULL		10																																																																																			MBL1P	-	-	ENSG00000242600		0.542	MBL1P-001	KNOWN	basic	processed_transcript	MBL1P	HGNC	pseudogene	OTTHUMT00000049017.1		0.00	61	0	A			81680656	+1			no_errors	ENST00000480805	ensembl	human	known	74_37	rna	15.38	16	10	SNP	0.001	G
MBOAT1	154141	genome.wustl.edu	37	6	20152936	20152936	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:20152936C>T	ENST00000324607.7	-	2	328	c.164G>A	c.(163-165)cGt>cAt	p.R55H	MBOAT1_ENST00000536798.1_Missense_Mutation_p.R55H|MBOAT1_ENST00000541730.1_5'UTR	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	55					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TGTACCAGGACGTAAGTAGAT	0.453																																																	0													95.0	90.0	92.0					6																	20152936		2203	4300	6503	SO:0001583	missense	0			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.164G>A	6.37:g.20152936C>T	ENSP00000324944:p.Arg55His		A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Missense_Mutation	SNP	pfam_MBOAT_fam	p.R55H	ENST00000324607.7	37	c.164	CCDS34346.1	6	.	.	.	.	.	.	.	.	.	.	C	1.126	-0.653731	0.03480	.	.	ENSG00000172197	ENST00000324607;ENST00000536798	T;T	0.23348	2.67;1.91	5.37	-0.262	0.12958	.	0.673314	0.15911	N	0.238582	T	0.02533	0.0077	N	0.12569	0.235	0.20489	N	0.999891	B	0.02656	0.0	B	0.01281	0.0	T	0.44997	-0.9291	10	0.06494	T	0.89	-15.3769	6.2831	0.21019	0.0:0.4867:0.1367:0.3767	.	55	Q6ZNC8	MBOA1_HUMAN	H	55	ENSP00000324944:R55H;ENSP00000439814:R55H	ENSP00000324944:R55H	R	-	2	0	MBOAT1	20260915	0.001000	0.12720	0.547000	0.28179	0.551000	0.35334	0.194000	0.17135	-0.291000	0.09012	0.655000	0.94253	CGT	MBOAT1	-	NULL	ENSG00000172197		0.453	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT1	HGNC	protein_coding	OTTHUMT00000039980.1	-	0.00	48	0	C			20152936	-1	tier1	-	no_errors	ENST00000324607	ensembl	human	known	74_37	missense	38.89	22	14	SNP	0.742	T
MBTPS1	8720	genome.wustl.edu	37	16	84108235	84108235	+	Silent	SNP	G	G	A	rs372301408		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:84108235G>A	ENST00000343411.3	-	12	2055	c.1560C>T	c.(1558-1560)aaC>aaT	p.N520N	MBTPS1_ENST00000569770.1_Intron	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	520					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCCCATGCCGTTGAGGATGG	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		21462	0.0		0.0	False		,,,				2504	0.001																0								G		1,4399	2.1+/-5.4	0,1,2199	121.0	98.0	105.0		1560	-4.5	1.0	16		105	0,8600		0,0,4300	no	coding-synonymous	MBTPS1	NM_003791.2		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		520/1053	84108235	1,12999	2200	4300	6500	SO:0001819	synonymous_variant	0			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1560C>T	16.37:g.84108235G>A			A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	p.N520	ENST00000343411.3	37	c.1560	CCDS10941.1	16																																																																																			MBTPS1	-	NULL	ENSG00000140943		0.488	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	-	0.00	61	0	G	NM_003791		84108235	-1	tier1	-	no_errors	ENST00000343411	ensembl	human	known	74_37	silent	53.57	26	30	SNP	0.979	A
MBTPS1	8720	genome.wustl.edu	37	16	84127327	84127327	+	Missense_Mutation	SNP	G	G	A	rs146110910		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:84127327G>A	ENST00000343411.3	-	5	1220	c.725C>T	c.(724-726)aCg>aTg	p.T242M	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	242	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATCGTCCAGCGTTCGCTCGTT	0.493																																																	0													169.0	124.0	139.0					16																	84127327		2200	4300	6500	SO:0001583	missense	0			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.725C>T	16.37:g.84127327G>A	ENSP00000344223:p.Thr242Met		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	p.T242M	ENST00000343411.3	37	c.725	CCDS10941.1	16	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996101	0.93167	.	.	ENSG00000140943	ENST00000343411	T	0.44482	0.92	5.44	5.44	0.79542	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.63105	0.2483	L	0.59967	1.855	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.65125	-0.6244	10	0.87932	D	0	-23.2761	19.2669	0.93990	0.0:0.0:1.0:0.0	.	242	Q14703	MBTP1_HUMAN	M	242	ENSP00000344223:T242M	ENSP00000344223:T242M	T	-	2	0	MBTPS1	82684828	1.000000	0.71417	0.437000	0.26809	0.166000	0.22503	9.605000	0.98321	2.549000	0.85964	0.655000	0.94253	ACG	MBTPS1	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom	ENSG00000140943		0.493	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	-	0.00	46	0	G	NM_003791		84127327	-1	tier1	-	no_errors	ENST00000343411	ensembl	human	known	74_37	missense	28.57	34	14	SNP	1.000	A
MBTPS1	8720	genome.wustl.edu	37	16	84132850	84132850	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:84132850G>T	ENST00000343411.3	-	3	724	c.229C>A	c.(229-231)Ctg>Atg	p.L77M		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	77					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGCTCTTCAGGGCACTTGAA	0.343																																																	0													107.0	96.0	100.0					16																	84132850		2200	4300	6500	SO:0001583	missense	0			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.229C>A	16.37:g.84132850G>T	ENSP00000344223:p.Leu77Met		A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	p.L77M	ENST00000343411.3	37	c.229	CCDS10941.1	16	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307590	0.81247	.	.	ENSG00000140943	ENST00000343411	T	0.52754	0.65	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.69205	0.3085	M	0.78049	2.395	0.58432	D	0.999998	D	0.89917	1.0	D	0.77557	0.99	T	0.72207	-0.4360	10	0.72032	D	0.01	-15.4681	14.9298	0.70906	0.0705:0.0:0.9295:0.0	.	77	Q14703	MBTP1_HUMAN	M	77	ENSP00000344223:L77M	ENSP00000344223:L77M	L	-	1	2	MBTPS1	82690351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.047000	0.49854	2.670000	0.90874	0.650000	0.86243	CTG	MBTPS1	-	NULL	ENSG00000140943		0.343	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2		0.00	72	0	G	NM_003791		84132850	-1			no_errors	ENST00000343411	ensembl	human	known	74_37	missense	7.22	90	7	SNP	1.000	T
MCAM	4162	genome.wustl.edu	37	11	119182249	119182249	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:119182249G>T	ENST00000264036.4	-	11	1412	c.1398C>A	c.(1396-1398)gtC>gtA	p.V466V	MCAM_ENST00000392814.1_Silent_p.V415V	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	466	Ig-like C2-type 3.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCGTGCCGTTGACGTTCCAGG	0.582																																																	0													95.0	79.0	84.0					11																	119182249		2199	4295	6494	SO:0001819	synonymous_variant	0			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1398C>A	11.37:g.119182249G>T			O95812|Q59E86|Q6PHR3|Q6ZTR2	Silent	SNP	pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V466	ENST00000264036.4	37	c.1398	CCDS31690.1	11																																																																																			MCAM	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000076706		0.582	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCAM	HGNC	protein_coding	OTTHUMT00000388332.2		0.00	55	0	G			119182249	-1			no_errors	ENST00000264036	ensembl	human	known	74_37	silent	8.33	33	3	SNP	0.000	T
MCHR2	84539	genome.wustl.edu	37	6	100382357	100382358	+	Frame_Shift_Ins	INS	-	-	A	rs200957067		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:100382357_100382358insA	ENST00000281806.2	-	5	937_938	c.623_624insT	c.(622-624)ttcfs	p.F208fs	MCHR2_ENST00000369212.2_Frame_Shift_Ins_p.F208fs	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F208fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGGGTAGAGGGAAAAAAAAAGT	0.342																																																	1	Deletion - Frameshift(1)	lung(1)																																								SO:0001589	frameshift_variant	0			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.624dupT	6.37:g.100382366_100382366dupA	ENSP00000281806:p.Phe208fs		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt	p.L210fs	ENST00000281806.2	37	c.624_623	CCDS5044.1	6																																																																																			MCHR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000152034		0.342	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	HGNC	protein_coding	OTTHUMT00000041620.2		0.00	38	0	-	NM_032503		100382358	-1	tier1		no_errors	ENST00000281806	ensembl	human	known	74_37	frame_shift_ins	26.67	33	12	INS	1.000:1.000	A
MCM2	4171	genome.wustl.edu	37	3	127339610	127339610	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:127339610C>T	ENST00000265056.7	+	14	2579	c.2335C>T	c.(2335-2337)Cgc>Tgc	p.R779C	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	779					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GGCCCACGCGCGCATCCATCT	0.582																																																	0													119.0	110.0	113.0					3																	127339610		2203	4300	6503	SO:0001583	missense	0			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2335C>T	3.37:g.127339610C>T	ENSP00000265056:p.Arg779Cys		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_MCM2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM2,prints_MCM_DNA-dep_ATPase	p.R779C	ENST00000265056.7	37	c.2335	CCDS3043.1	3	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964841	0.53507	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.12147	2.71	5.7	4.82	0.62117	.	0.049843	0.85682	D	0.000000	T	0.50956	0.1646	H	0.96576	3.845	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	P;P;D	0.65140	0.806;0.903;0.932	T	0.71199	-0.4663	10	0.87932	D	0	-30.9916	16.2147	0.82198	0.134:0.866:0.0:0.0	.	829;649;779	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	C	779;683;829	ENSP00000265056:R779C	ENSP00000265056:R779C	R	+	1	0	MCM2	128822300	1.000000	0.71417	0.920000	0.36463	0.000000	0.00434	5.713000	0.68415	1.407000	0.46875	-0.175000	0.13238	CGC	MCM2	-	pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase	ENSG00000073111		0.582	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM2	HGNC	protein_coding	OTTHUMT00000356612.1	-	0.00	43	0	C			127339610	+1	tier1	-	no_errors	ENST00000265056	ensembl	human	known	74_37	missense	44.12	19	15	SNP	0.996	T
MCM3AP	8888	genome.wustl.edu	37	21	47662235	47662237	+	Intron	DEL	TTT	TTT	-	rs373542871		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:47662235_47662237delTTT	ENST00000397708.1	-	26	5681				MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000291688.1_Intron|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000467026.1_Intron|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein						DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					aagttaggacttttttttttttt	0.315																																																	0																																										SO:0001627	intron_variant	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.5426+478AAA>-	21.37:g.47662244_47662246delTTT			C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	RNA	DEL	-	NULL	ENST00000397708.1	37	NULL	CCDS13734.1	21																																																																																			MCM3AP-AS1	-	-	ENSG00000215424		0.315	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP-AS1	HGNC	protein_coding	OTTHUMT00000207254.1		0.00	27	0	TTT	NM_003906		47662237	+1	tier1		no_errors	ENST00000421927	ensembl	human	known	74_37	rna	30.30	23	10	DEL	0.165:0.204:0.305	-
MCOLN1	57192	genome.wustl.edu	37	19	7595268	7595268	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:7595268C>T	ENST00000264079.6	+	12	1581	c.1456C>T	c.(1456-1458)Cgc>Tgc	p.R486C		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	486					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCAGCAGGGCCGCAGCAGCCT	0.582																																																	0													241.0	225.0	231.0					19																	7595268		2203	4300	6503	SO:0001583	missense	0			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.1456C>T	19.37:g.7595268C>T	ENSP00000264079:p.Arg486Cys		D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF	p.R486C	ENST00000264079.6	37	c.1456	CCDS12180.1	19	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885740	0.51908	.	.	ENSG00000090674	ENST00000264079;ENST00000394321	T	0.70282	-0.47	4.56	2.24	0.28232	Polycystin cation channel, PKD1/PKD2 (1);	0.249971	0.46442	D	0.000292	T	0.42381	0.1200	N	0.08118	0	0.33310	D	0.565969	B;B	0.30482	0.281;0.0	B;B	0.16722	0.016;0.001	T	0.52808	-0.8526	10	0.66056	D	0.02	.	5.089	0.14698	0.308:0.589:0.0:0.103	.	451;486	Q9GZU1-2;Q9GZU1	.;MCLN1_HUMAN	C	486;451	ENSP00000264079:R486C	ENSP00000264079:R486C	R	+	1	0	MCOLN1	7501268	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.974000	0.40559	1.241000	0.43820	0.563000	0.77884	CGC	MCOLN1	-	pfam_PKD1_2_channel	ENSG00000090674		0.582	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN1	HGNC	protein_coding	OTTHUMT00000458974.2	-	0.00	54	0	C	NM_020533		7595268	+1	tier1	-	no_errors	ENST00000264079	ensembl	human	known	74_37	missense	41.86	25	18	SNP	1.000	T
MCPH1	79648	genome.wustl.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aaafs	p.K107fs	MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274																																					Colon(95;1448 1467 8277 34473 35819)												0													83.0	81.0	82.0					8																	6289099		1811	4070	5881	SO:0001589	frameshift_variant	0			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.313delA	8.37:g.6289099delA	ENSP00000342924:p.Lys107fs		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Del	DEL	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1	p.K107fs	ENST00000344683.5	37	c.313	CCDS43689.1	8																																																																																			MCPH1	-	NULL	ENSG00000147316		0.274	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2		0.00	13	0	A	NM_024596		6289099	+1	tier1		no_errors	ENST00000344683	ensembl	human	known	74_37	frame_shift_del	37.93	18	11	DEL	0.022	-
MCPH1	79648	genome.wustl.edu	37	8	6479132	6479132	+	Missense_Mutation	SNP	G	G	A	rs575272870		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:6479132G>A	ENST00000344683.5	+	13	2448	c.2372G>A	c.(2371-2373)cGc>cAc	p.R791H	MCPH1_ENST00000521175.1_3'UTR|CTD-2541M15.1_ENST00000522897.1_RNA|CTD-2541M15.1_ENST00000515608.1_RNA	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	791	BRCT 3. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CAAGTCCCCCGCCAGGCCAGC	0.592																																					Colon(95;1448 1467 8277 34473 35819)												0													51.0	63.0	59.0					8																	6479132		2098	4216	6314	SO:0001583	missense	0			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.2372G>A	8.37:g.6479132G>A	ENSP00000342924:p.Arg791His		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1	p.R791H	ENST00000344683.5	37	c.2372	CCDS43689.1	8	.	.	.	.	.	.	.	.	.	.	G	9.013	0.982944	0.18889	.	.	ENSG00000147316	ENST00000344683	D	0.89810	-2.57	5.38	0.256	0.15567	BRCT (3);	0.219054	0.37955	N	0.001878	T	0.79868	0.4520	L	0.39566	1.225	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.64326	-0.6434	10	0.30854	T	0.27	-3.3999	6.0533	0.19796	0.31:0.0:0.5533:0.1368	.	791	Q8NEM0	MCPH1_HUMAN	H	791	ENSP00000342924:R791H	ENSP00000342924:R791H	R	+	2	0	MCPH1	6466540	0.009000	0.17119	0.008000	0.14137	0.002000	0.02628	1.305000	0.33493	0.110000	0.17919	-0.251000	0.11542	CGC	MCPH1	-	superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000147316		0.592	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2	-	0.00	107	0	G	NM_024596		6479132	+1	tier1	-	no_errors	ENST00000344683	ensembl	human	known	74_37	missense	28.45	82	33	SNP	0.000	A
MCTP1	79772	genome.wustl.edu	37	5	94050578	94050578	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:94050578delT	ENST00000515393.1	-	20	2623	c.2624delA	c.(2623-2625)aagfs	p.K875fs	MCTP1_ENST00000514040.1_5'UTR|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000505078.1_Frame_Shift_Del_p.K391fs|MCTP1_ENST00000429576.2_Frame_Shift_Del_p.K568fs|MCTP1_ENST00000312216.8_Frame_Shift_Del_p.K654fs	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	875					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TATAAATCCCTTTTTTTCACT	0.348																																																	0													125.0	128.0	127.0					5																	94050578		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2624delA	5.37:g.94050578delT	ENSP00000424126:p.Lys875fs		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Frame_Shift_Del	DEL	pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom	p.K875fs	ENST00000515393.1	37	c.2624	CCDS34203.1	5																																																																																			MCTP1	-	pfam_PRibTrfase_C	ENSG00000175471		0.348	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCTP1	HGNC	protein_coding	OTTHUMT00000370280.3		0.00	47	0	T	NM_024717		94050578	-1	tier1		no_errors	ENST00000515393	ensembl	human	known	74_37	frame_shift_del	28.57	55	22	DEL	1.000	-
MDGA2	161357	genome.wustl.edu	37	14	47530713	47530713	+	Missense_Mutation	SNP	G	G	T	rs201536918	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:47530713G>T	ENST00000399232.2	-	7	1421	c.1057C>A	c.(1057-1059)Cgt>Agt	p.R353S	MDGA2_ENST00000439988.3_Missense_Mutation_p.R422S|MDGA2_ENST00000426342.1_Missense_Mutation_p.R124S|MDGA2_ENST00000357362.3_Missense_Mutation_p.R124S	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	353	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTCACCTCACGGCCAATCTGG	0.383																																																	0													80.0	73.0	75.0					14																	47530713		1873	4091	5964	SO:0001583	missense	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1057C>A	14.37:g.47530713G>T	ENSP00000382178:p.Arg353Ser		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom	p.R422S	ENST00000399232.2	37	c.1264		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.95|15.95	2.984831|2.984831	0.53934|0.53934	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000554762|ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	.|T;T;T;T	.|0.38401	.|1.14;1.14;1.14;1.14	5.96|5.96	5.96|5.96	0.96718|0.96718	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	.|0.000000	.|0.52532	.|U	.|0.000064	T|T	0.41396|0.41396	0.1157|0.1157	N|N	0.12746|0.12746	0.255|0.255	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.75020	.|0.985	T|T	0.19386|0.19386	-1.0307|-1.0307	5|10	.|0.13108	.|T	.|0.6	.|.	18.9858|18.9858	0.92769|0.92769	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|353	.|Q7Z553	.|MDGA2_HUMAN	Q|S	127|353;124;422;124	.|ENSP00000400011:R353S;ENSP00000405456:R124S;ENSP00000382178:R422S;ENSP00000349925:R124S	.|ENSP00000349925:R124S	P|R	-|-	2|1	0|0	MDGA2|MDGA2	46600463|46600463	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.807000|9.807000	0.99171|0.99171	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CCG|CGT	MDGA2	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000272781		0.383	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	Uniprot_gn	protein_coding	OTTHUMT00000073352.5	-	0.00	31	0	G	NM_182830		47530713	-1	tier1	-	no_errors	ENST00000439988	ensembl	human	known	74_37	missense	47.37	10	9	SNP	1.000	T
MDH1B	130752	genome.wustl.edu	37	2	207620188	207620188	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:207620188G>A	ENST00000374412.3	-	5	730	c.455C>T	c.(454-456)aCg>aTg	p.T152M	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Missense_Mutation_p.T54M|MDH1B_ENST00000454776.2_Missense_Mutation_p.T152M	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	152					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTCGCCACTCGTCAATATGGG	0.433																																					Pancreas(76;29 1355 28675 37177 51207)												0													78.0	72.0	74.0					2																	207620188		2203	4300	6503	SO:0001583	missense	0				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.455C>T	2.37:g.207620188G>A	ENSP00000363533:p.Thr152Met		A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	p.T152M	ENST00000374412.3	37	c.455	CCDS33365.1	2	.	.	.	.	.	.	.	.	.	.	G	12.14	1.849379	0.32699	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.41400	1.0;1.0;1.0	6.06	1.16	0.20824	NAD(P)-binding domain (1);	0.784649	0.12855	N	0.433605	T	0.40670	0.1126	L	0.51422	1.61	0.09310	N	1	P;P	0.45957	0.869;0.793	P;B	0.44696	0.458;0.27	T	0.26985	-1.0087	10	0.87932	D	0	-0.4804	10.1941	0.43043	0.3251:0.0:0.6749:0.0	.	152;152	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	M	152;54;152	ENSP00000363533:T152M;ENSP00000416577:T54M;ENSP00000389916:T152M	ENSP00000363533:T152M	T	-	2	0	MDH1B	207328433	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	1.064000	0.30579	0.149000	0.19098	-0.142000	0.14014	ACG	MDH1B	-	NULL	ENSG00000138400		0.433	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	HGNC	protein_coding	OTTHUMT00000256429.2	-	0.00	40	0	G	NM_001039845		207620188	-1	tier1	-	no_errors	ENST00000374412	ensembl	human	known	74_37	missense	51.35	18	19	SNP	0.001	A
MDN1	23195	genome.wustl.edu	37	6	90458950	90458950	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:90458950C>T	ENST00000369393.3	-	26	3869	c.3754G>A	c.(3754-3756)Gat>Aat	p.D1252N	MDN1_ENST00000428876.1_Missense_Mutation_p.D1252N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1252					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACCTGAAGATCCAGCATGACT	0.388																																																	0													66.0	57.0	60.0					6																	90458950		2203	4300	6503	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.3754G>A	6.37:g.90458950C>T	ENSP00000358400:p.Asp1252Asn		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.D1252N	ENST00000369393.3	37	c.3754	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367057	0.61513	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.18657	2.81;2.81;2.2	5.43	5.43	0.79202	.	0.053662	0.64402	D	0.000001	T	0.17959	0.0431	M	0.71871	2.18	0.58432	D	0.999999	B	0.29531	0.247	B	0.26969	0.075	T	0.02691	-1.1123	10	0.54805	T	0.06	.	19.2615	0.93970	0.0:1.0:0.0:0.0	.	1252	Q9NU22	MDN1_HUMAN	N	1252;1252;1179	ENSP00000358400:D1252N;ENSP00000413970:D1252N;ENSP00000409664:D1179N	ENSP00000358400:D1252N	D	-	1	0	MDN1	90515671	1.000000	0.71417	0.998000	0.56505	0.175000	0.22909	4.441000	0.59981	2.523000	0.85059	0.655000	0.94253	GAT	MDN1	-	superfamily_P-loop_NTPase,pirsf_Midasin	ENSG00000112159		0.388	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	-	0.00	47	0	C			90458950	-1	tier1	-	no_errors	ENST00000369393	ensembl	human	known	74_37	missense	30.19	37	16	SNP	1.000	T
MEAF6	64769	genome.wustl.edu	37	1	37967411	37967411	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:37967411C>T	ENST00000296214.5	-	5	554	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	MEAF6_ENST00000373075.2_Missense_Mutation_p.R176Q|MEAF6_ENST00000373073.4_Missense_Mutation_p.R176Q|MEAF6_ENST00000475828.1_5'UTR|MEAF6_ENST00000448519.2_Missense_Mutation_p.R176Q|MIR5581_ENST00000580821.1_RNA|MEAF6_ENST00000373074.1_Missense_Mutation_p.R154Q	NM_001270875.1	NP_001257804.1	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	176					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TGACCTGTGCCGGTTTTTATT	0.507																																																	0													118.0	139.0	132.0					1																	37967411		2203	4300	6503	SO:0001583	missense	0			BC016328	CCDS418.1, CCDS59195.1, CCDS59196.1	1p35.3-p33	2011-08-12	2009-07-13	2009-07-13	ENSG00000163875	ENSG00000163875			25674	protein-coding gene	gene with protein product	"""Esa1p-associated factor 6 homolog (S. cerevisiae)"", ""centromere protein 28"""	611001	"""chromosome 1 open reading frame 149"""	C1orf149		8619474, 9110174, 12963728, 14966270, 16387653	Standard	NM_022756		Approved	NY-SAR-91, FLJ11730, Eaf6, CENP-28	uc001cbe.2	Q9HAF1	OTTHUMG00000004223	ENST00000296214.5:c.527G>A	1.37:g.37967411C>T	ENSP00000296214:p.Arg176Gln		B1AK64|Q4F967|Q7Z311|Q86WE3	Missense_Mutation	SNP	pfam_Hist_AcTrfase_NuA4_cplx	p.R176Q	ENST00000296214.5	37	c.527	CCDS59196.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.751451	0.96890	.	.	ENSG00000163875	ENST00000373075;ENST00000296214;ENST00000373074;ENST00000373073;ENST00000448519	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.64843	0.2635	N	0.19112	0.55	0.80722	D	1	D;D;D;D	0.69078	0.997;0.994;0.997;0.994	D;D;D;P	0.69479	0.964;0.921;0.964;0.885	T	0.66701	-0.5857	9	0.51188	T	0.08	1.3772	19.9433	0.97172	0.0:1.0:0.0:0.0	.	176;176;176;154	Q9HAF1-2;Q9HAF1;Q9HAF1-3;B1AK63	.;EAF6_HUMAN;.;.	Q	176;176;154;176;176	.	ENSP00000296214:R176Q	R	-	2	0	MEAF6	37739998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.737000	0.68606	2.716000	0.92895	0.655000	0.94253	CGG	MEAF6	-	NULL	ENSG00000163875		0.507	MEAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEAF6	HGNC	protein_coding	OTTHUMT00000012161.1	-	0.00	89	0	C	NM_022756		37967411	-1	tier1	-	no_errors	ENST00000373075	ensembl	human	known	74_37	missense	38.26	70	44	SNP	1.000	T
MECOM	2122	genome.wustl.edu	37	3	168833257	168833257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:168833257delT	ENST00000464456.1	-	7	3039	c.1839delA	c.(1837-1839)aaafs	p.K613fs	MECOM_ENST00000472280.1_Frame_Shift_Del_p.K614fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.K613fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.K801fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.K613fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.K613fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.K614fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.K678fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	22					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G614fs*30(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CGTTGCTTCCTTTTTTTCCCC	0.498																																																	2	Deletion - Frameshift(2)	large_intestine(2)											121.0	110.0	114.0					3																	168833257		2203	4300	6503	SO:0001589	frameshift_variant	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1839delA	3.37:g.168833257delT	ENSP00000419770:p.Lys613fs		Q13466|Q6FH90	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.G802fs	ENST00000464456.1	37	c.2403	CCDS54669.1	3																																																																																			MECOM	-	NULL	ENSG00000085276		0.498	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1		0.00	101	0	T	NM_005241, NM_004991		168833257	-1	tier1		no_errors	ENST00000494292	ensembl	human	known	74_37	frame_shift_del	27.47	66	25	DEL	1.000	-
MED13L	23389	genome.wustl.edu	37	12	116412999	116412999	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:116412999C>T	ENST00000281928.3	-	25	5914	c.5708G>A	c.(5707-5709)cGt>cAt	p.R1903H		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1903						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATGGCCAAGACGCCCAAGTCG	0.453																																																	0													66.0	64.0	65.0					12																	116412999		2203	4300	6503	SO:0001583	missense	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5708G>A	12.37:g.116412999C>T	ENSP00000281928:p.Arg1903His		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.R1903H	ENST00000281928.3	37	c.5708	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.622977	0.96660	.	.	ENSG00000123066	ENST00000281928	D	0.83914	-1.78	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.92782	0.7705	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92896	0.6335	10	0.72032	D	0.01	.	20.3754	0.98918	0.0:1.0:0.0:0.0	.	1903	Q71F56	MD13L_HUMAN	H	1903	ENSP00000281928:R1903H	ENSP00000281928:R1903H	R	-	2	0	MED13L	114897382	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	7.438000	0.80431	2.894000	0.99253	0.591000	0.81541	CGT	MED13L	-	pfam_Mediator_Med13	ENSG00000123066		0.453	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	-	0.00	38	0	C			116412999	-1	tier1	-	no_errors	ENST00000281928	ensembl	human	known	74_37	missense	54.35	21	25	SNP	1.000	T
MED14	9282	genome.wustl.edu	37	X	40588606	40588608	+	Intron	DEL	AAA	AAA	-	rs200699843|rs369436436		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:40588606_40588608delAAA	ENST00000324817.1	-	2	334					NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCTAAGAAGAAAAAAAAAAAAC	0.32																																																	0																																										SO:0001627	intron_variant	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.216-9TTT>-	X.37:g.40588615_40588617delAAA			Q4KMR7|Q9UNB3	RNA	DEL	-	NULL	ENST00000324817.1	37	NULL	CCDS14254.1	X																																																																																			MED14	-	-	ENSG00000180182		0.320	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1		0.00	17	0	AAA	NM_004229		40588608	-1	tier1		no_errors	ENST00000463072	ensembl	human	known	74_37	rna	50.00	12	12	DEL	0.000:0.000:0.610	-
MED23	9439	genome.wustl.edu	37	6	131919846	131919846	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:131919846delT	ENST00000368068.3	-	19	2455	c.2276delA	c.(2275-2277)aatfs	p.N759fs	MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000403834.3_Frame_Shift_Del_p.N765fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000479213.1_5'Flank	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	759					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.N759fs*7(1)|p.N765fs*7(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTCCTCCACATTTTTTTTCAG	0.378																																																	2	Insertion - Frameshift(2)	large_intestine(2)											154.0	151.0	152.0					6																	131919846		2203	4300	6503	SO:0001589	frameshift_variant	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2276delA	6.37:g.131919846delT	ENSP00000357047:p.Asn759fs		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Frame_Shift_Del	DEL	pfam_Mediator_Med23	p.N765fs	ENST00000368068.3	37	c.2294	CCDS5147.1	6																																																																																			MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.378	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1		0.00	30	0	T			131919846	-1	tier1		no_errors	ENST00000368058	ensembl	human	known	74_37	frame_shift_del	40.00	21	14	DEL	1.000	-
MED24	9862	genome.wustl.edu	37	17	38182920	38182920	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:38182920G>T	ENST00000394128.2	-	18	1870	c.1789C>A	c.(1789-1791)Ctg>Atg	p.L597M	MED24_ENST00000501516.3_Missense_Mutation_p.L616M|MED24_ENST00000394126.1_Missense_Mutation_p.L622M|MED24_ENST00000356271.3_Missense_Mutation_p.L584M|SNORD124_ENST00000459577.1_RNA|MED24_ENST00000394127.2_Missense_Mutation_p.L584M	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	597					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TCGAAGGCCAGGACCCCATTC	0.572											OREG0024386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													47.0	37.0	40.0					17																	38182920		2203	4300	6503	SO:0001583	missense	0			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1789C>A	17.37:g.38182920G>T	ENSP00000377686:p.Leu597Met	876	A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	pfam_Mediator_Med24_N	p.L597M	ENST00000394128.2	37	c.1789	CCDS11359.1	17	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685973	0.29962	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000501516;ENST00000431269	T;T;T	0.58797	0.31;0.31;0.31	4.89	2.89	0.33648	Mediator complex, subunit Med24, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.69700	0.3140	M	0.65498	2.005	0.54753	D	0.999986	D;D;D;D;D	0.76494	0.965;0.999;0.999;0.971;0.999	P;D;D;P;D	0.87578	0.66;0.998;0.997;0.694;0.998	T	0.70360	-0.4893	10	0.72032	D	0.01	-11.3695	8.3331	0.32197	0.24:0.0:0.76:0.0	.	547;507;584;597;539	F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;MED24_HUMAN;.	M	597;597;597;547;584;539;68;507	ENSP00000377686:L597M;ENSP00000443344:L547M;ENSP00000377685:L584M	ENSP00000348610:L597M	L	-	1	2	MED24	35436446	1.000000	0.71417	0.929000	0.37066	0.989000	0.77384	3.330000	0.52068	1.041000	0.40125	0.655000	0.94253	CTG	MED24	-	pfam_Mediator_Med24_N	ENSG00000008838		0.572	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	HGNC	protein_coding	OTTHUMT00000257147.2	-	0.00	58	0	G	NM_014815		38182920	-1	tier1	-	no_errors	ENST00000394128	ensembl	human	known	74_37	missense	43.42	43	33	SNP	0.905	T
MED26	9441	genome.wustl.edu	37	19	16687924	16687925	+	Frame_Shift_Ins	INS	-	-	G	rs375978551		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:16687924_16687925insG	ENST00000263390.3	-	3	978_979	c.716_717insC	c.(715-717)cctfs	p.P239fs	CTD-3222D19.2_ENST00000409035.1_Frame_Shift_Ins_p.P247fs|CTC-429P9.4_ENST00000593962.1_5'Flank	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	239	Pro-rich.				gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						AGCAGGGTCCAGGGGGCTTGCC	0.678																																																	0																																										SO:0001589	frameshift_variant	0			AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.717dupC	19.37:g.16687929_16687929dupG	ENSP00000263390:p.Pro239fs		A1A4S3|Q0VGB6	Frame_Shift_Ins	INS	pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.G240fs	ENST00000263390.3	37	c.717_716	CCDS12347.1	19																																																																																			MED26	-	NULL	ENSG00000105085		0.678	MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED26	HGNC	protein_coding	OTTHUMT00000461178.1		0.00	21	0	-	NM_004831		16687925	-1	tier1		no_errors	ENST00000263390	ensembl	human	known	74_37	frame_shift_ins	40.00	9	6	INS	0.775:0.991	G
MEG3	55384	genome.wustl.edu	37	14	101301181	101301181	+	RNA	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:101301181delT	ENST00000554041.1	-	0	143																											GTGGAATTCATTTTTGAGAGG	0.592																																																	0																																												0																															14.37:g.101301181delT				RNA	DEL	-	NULL	ENST00000554041.1	37	NULL		14																																																																																			MEG3	-	-	ENSG00000214548		0.592	RP11-123M6.2-001	KNOWN	basic	antisense	MEG3	HGNC	antisense	OTTHUMT00000414687.1		0.00	26	0	T			101301181	+1	tier1		no_errors	ENST00000398461	ensembl	human	known	74_37	rna	33.33	12	6	DEL	0.000	-
MEGF6	1953	genome.wustl.edu	37	1	3417208	3417208	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:3417208C>T	ENST00000356575.4	-	21	2922	c.2696G>A	c.(2695-2697)cGg>cAg	p.R899Q	MEGF6_ENST00000294599.4_Missense_Mutation_p.R794Q	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	899	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CTGCTCGCACCGCGGGCCCAC	0.652																																					Ovarian(73;978 3658)												0													10.0	17.0	15.0					1																	3417208		2125	4191	6316	SO:0001583	missense	0			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.2696G>A	1.37:g.3417208C>T	ENSP00000348982:p.Arg899Gln		Q4AC86|Q5VV39	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.R899Q	ENST00000356575.4	37	c.2696	CCDS41237.1	1	.	.	.	.	.	.	.	.	.	.	C	5.531	0.282900	0.10458	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.33438	1.41;1.41	4.98	-4.47	0.03525	EGF-like, laminin (2);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.790169	0.12065	N	0.502767	T	0.23766	0.0575	L	0.43598	1.365	0.09310	N	1	B;B	0.27910	0.193;0.003	B;B	0.28139	0.086;0.008	T	0.07252	-1.0782	10	0.25106	T	0.35	-9.3131	13.9786	0.64287	0.0:0.4345:0.0:0.5655	.	899;794	O75095;O75095-2	MEGF6_HUMAN;.	Q	794;899	ENSP00000294599:R794Q;ENSP00000348982:R899Q	ENSP00000294599:R794Q	R	-	2	0	MEGF6	3407068	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	-3.879000	0.00344	-2.023000	0.00937	-1.134000	0.01955	CGG	MEGF6	-	pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin	ENSG00000162591		0.652	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	HGNC	protein_coding	OTTHUMT00000354866.1	-	0.00	150	0	C	NM_001409		3417208	-1	tier1	-	no_errors	ENST00000356575	ensembl	human	known	74_37	missense	35.29	55	30	SNP	0.000	T
MEGF8	1954	genome.wustl.edu	37	19	42838221	42838221	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:42838221C>T	ENST00000251268.6	+	3	414	c.414C>T	c.(412-414)cgC>cgT	p.R138R	MEGF8_ENST00000334370.4_Silent_p.R138R	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	138	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.|EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTCATTCCGCTTCTCCCTGT	0.662																																																	0													35.0	39.0	38.0					19																	42838221		2080	4203	6283	SO:0001819	synonymous_variant	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.414C>T	19.37:g.42838221C>T			A8KAY0|O75097	Silent	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.R138	ENST00000251268.6	37	c.414		19																																																																																			MEGF8	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000105429		0.662	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	-	0.00	77	0	C	NM_001410		42838221	+1	tier1	-	no_errors	ENST00000251268	ensembl	human	known	74_37	silent	26.23	45	16	SNP	1.000	T
MEGF8	1954	genome.wustl.edu	37	19	42857956	42857956	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:42857956G>T	ENST00000251268.6	+	22	3791	c.3791G>T	c.(3790-3792)gGg>gTg	p.G1264V	MEGF8_ENST00000334370.4_Missense_Mutation_p.G1197V	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1264	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGGGAGTGTGGGGGTCGCGCC	0.682																																																	0													34.0	36.0	35.0					19																	42857956		2203	4300	6503	SO:0001583	missense	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.3791G>T	19.37:g.42857956G>T	ENSP00000251268:p.Gly1264Val		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin	p.G1264V	ENST00000251268.6	37	c.3791		19	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669963	0.47677	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.20598	2.06;2.06	4.94	4.94	0.65067	CUB (1);	0.146270	0.47852	D	0.000206	T	0.21103	0.0508	N	0.22421	0.69	0.80722	D	1	D;D	0.60575	0.988;0.982	P;P	0.54924	0.676;0.764	T	0.00802	-1.1560	10	0.41790	T	0.15	-18.7679	7.3393	0.26627	0.1787:0.0:0.8213:0.0	.	1264;1197	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	V	1197;1264	ENSP00000334219:G1197V;ENSP00000251268:G1264V	ENSP00000251268:G1264V	G	+	2	0	MEGF8	47549796	1.000000	0.71417	0.996000	0.52242	0.277000	0.26821	5.072000	0.64389	2.580000	0.87095	0.561000	0.74099	GGG	MEGF8	-	superfamily_CUB_dom,pfscan_CUB_dom	ENSG00000105429		0.682	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1		0.00	58	0	G	NM_001410		42857956	+1			no_errors	ENST00000251268	ensembl	human	known	74_37	missense	5.56	50	3	SNP	1.000	T
METTL12	751071	genome.wustl.edu	37	11	62434855	62434855	+	3'UTR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:62434855C>T	ENST00000532971.1	+	0	1312				C11orf48_ENST00000524958.1_5'Flank|RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000525675.1_5'Flank|C11orf83_ENST00000531323.1_5'Flank|SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000354588.3_Intron|METTL12_ENST00000398922.2_3'UTR	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12							mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						aaaacccctgcgctgactgac	0.418																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.*332C>T	11.37:g.62434855C>T			B7Z4C1	RNA	SNP	-	NULL	ENST00000532971.1	37	NULL	CCDS41657.1	11																																																																																			METTL12	-	-	ENSG00000214756		0.418	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL12	HGNC	protein_coding	OTTHUMT00000394990.1	-	0.00	18	0	C	NM_001043229		62434855	+1	tier1	-	no_errors	ENST00000398922	ensembl	human	known	74_37	rna	50.00	6	6	SNP	0.000	T
METTL13	51603	genome.wustl.edu	37	1	171757033	171757033	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:171757033G>T	ENST00000361735.3	+	4	1538	c.1272G>T	c.(1270-1272)caG>caT	p.Q424H	METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000458517.1_Missense_Mutation_p.Q423H|METTL13_ENST00000362019.3_Missense_Mutation_p.Q338H|METTL13_ENST00000367737.5_Missense_Mutation_p.Q268H	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	424							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						ATGTGGTGCAGTCCGAAGCCA	0.542																																																	0													144.0	103.0	117.0					1																	171757033		2203	4300	6503	SO:0001583	missense	0			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1272G>T	1.37:g.171757033G>T	ENSP00000354920:p.Gln424His		A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.Q424H	ENST00000361735.3	37	c.1272	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072771	0.76415	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.44	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.88959	0.6579	M	0.86573	2.825	0.58432	D	0.999994	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.90120	0.4198	10	0.66056	D	0.02	-23.9869	14.1328	0.65266	0.0743:0.0:0.9257:0.0	.	423;268;424	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	H	423;338;268;424	ENSP00000401955:Q423H;ENSP00000355393:Q338H;ENSP00000356711:Q268H;ENSP00000354920:Q424H	ENSP00000354920:Q424H	Q	+	3	2	METTL13	170023656	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.085000	0.64468	2.539000	0.85634	0.655000	0.94253	CAG	METTL13	-	NULL	ENSG00000010165		0.542	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	HGNC	protein_coding	OTTHUMT00000084528.5		0.00	85	0	G	NM_014955		171757033	+1			no_errors	ENST00000361735	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
METTL15	196074	genome.wustl.edu	37	11	28318379	28318379	+	Missense_Mutation	SNP	G	G	A	rs145080229	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:28318379G>A	ENST00000407364.3	+	6	1031	c.679G>A	c.(679-681)Ggg>Agg	p.G227R	METTL15_ENST00000342303.5_Missense_Mutation_p.G227R|METTL15_ENST00000303459.6_Missense_Mutation_p.G227R|METTL15_ENST00000406787.3_Missense_Mutation_p.R212Q			A6NJ78	MET15_HUMAN	methyltransferase like 15	227							methyltransferase activity (GO:0008168)	p.G227W(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AAGAACATACGGGGAGGAGAA	0.507																																																	2	Substitution - Missense(2)	lung(2)						G	ARG/GLY,ARG/GLY	1,4403	2.1+/-5.4	0,1,2201	127.0	109.0	115.0		679,679	5.4	1.0	11	dbSNP_134	115	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	METTL15	NM_001113528.1,NM_152636.2	125,125	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	227/408,227/274	28318379	2,13000	2202	4299	6501	SO:0001583	missense	0			AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"""methyltransferase 5 domain containing 1"""	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.679G>A	11.37:g.28318379G>A	ENSP00000384369:p.Gly227Arg		A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Missense_Mutation	SNP	pfam_RsmH,superfamily_SAM-dep_MeTrfase_MraW_recog,tigrfam_RsmH	p.G227R	ENST00000407364.3	37	c.679	CCDS44559.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.43|16.43	3.119889|3.119889	0.56613|0.56613	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000169519|ENSG00000169519	ENST00000342303;ENST00000407364;ENST00000303459|ENST00000406787	T;T;T|T	0.69040|0.30448	-0.37;-0.37;-0.37|1.53	5.43|5.43	5.43|5.43	0.79202|0.79202	S-adenosyl-L-methionine-dependent methyltransferase, MraW, recognition domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67767|0.67767	0.2928|0.2928	H|H	0.98525|0.98525	4.255|4.255	0.80722|0.80722	D|D	1|1	D;D|D	0.89917|0.76494	1.0;1.0|0.999	D;D|P	0.91635|0.55785	0.999;0.986|0.784	T|T	0.82552|0.82552	-0.0400|-0.0400	9|8	.|.	.|.	.|.	.|.	18.2327|18.2327	0.89939|0.89939	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	227;227|212	A6NJ78;A6NJ78-2|A6NJ78-4	MET15_HUMAN;.|.	R|Q	227|212	ENSP00000342259:G227R;ENSP00000384369:G227R;ENSP00000307251:G227R|ENSP00000385507:R212Q	.|.	G|R	+|+	1|2	0|0	METTL15|METTL15	28274955|28274955	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.849000|0.849000	0.48306|0.48306	9.408000|9.408000	0.97327|0.97327	2.516000|2.516000	0.84829|0.84829	0.650000|0.650000	0.86243|0.86243	GGG|CGG	METTL15	-	pfam_RsmH,superfamily_SAM-dep_MeTrfase_MraW_recog,tigrfam_RsmH	ENSG00000169519		0.507	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	METTL15	HGNC	protein_coding	OTTHUMT00000318135.2	-	0.00	102	0	G	NM_152636		28318379	+1	tier1	rs145080229	no_errors	ENST00000303459	ensembl	human	known	74_37	missense	32.84	44	22	SNP	1.000	A
METTL18	92342	genome.wustl.edu	37	1	169762095	169762095	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:169762095C>A	ENST00000310392.4	-	2	1095	c.742G>T	c.(742-744)Gat>Tat	p.D248Y	C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.D248Y|C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000359326.4_5'Flank|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000413811.2_5'Flank	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	248						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			kidney(1)|large_intestine(3)|lung(4)	8						CTTTTCACATCTGGCTCATTT	0.348																																																	0													126.0	133.0	131.0					1																	169762095		2190	4293	6483	SO:0001583	missense	0			AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"""histidine protein methyltransferase 1"""	615255	"""chromosome 1 open reading frame 156"""	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.742G>T	1.37:g.169762095C>A	ENSP00000307975:p.Asp248Tyr		B2R9T5	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom	p.D248Y	ENST00000310392.4	37	c.742	CCDS1284.1	1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361075	0.24684	.	.	ENSG00000171806	ENST00000310392;ENST00000303469	T;T	0.16457	2.34;2.34	5.79	4.83	0.62350	.	0.641212	0.15520	N	0.258097	T	0.10508	0.0257	L	0.29908	0.895	0.09310	N	1	D	0.56287	0.975	P	0.52109	0.69	T	0.15378	-1.0439	10	0.21540	T	0.41	-0.0033	14.6422	0.68734	0.0:0.7827:0.2173:0.0	.	248	O95568	MET18_HUMAN	Y	248	ENSP00000307975:D248Y;ENSP00000307077:D248Y	ENSP00000307077:D248Y	D	-	1	0	METTL18	168028719	0.006000	0.16342	0.082000	0.20525	0.178000	0.23041	0.397000	0.20883	2.722000	0.93159	0.655000	0.94253	GAT	METTL18	-	NULL	ENSG00000171806		0.348	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL18	HGNC	protein_coding	OTTHUMT00000087109.1	-	0.00	49	0	C	NM_033418		169762095	-1	tier1	-	no_errors	ENST00000303469	ensembl	human	known	74_37	missense	17.78	74	16	SNP	0.001	A
METTL21EP	121952	genome.wustl.edu	37	13	103544906	103544909	+	lincRNA	DEL	TTTT	TTTT	-	rs34557658|rs57292537	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:103544906_103544909delTTTT	ENST00000607072.1	+	0	1954				METTL21EP_ENST00000605100.1_RNA																							CAAGCGTCCCTTTTTTTTTTTTTT	0.328																																																	0																																												0																															13.37:g.103544914_103544917delTTTT				RNA	DEL	-	NULL	ENST00000607072.1	37	NULL		13																																																																																			METTL21EP	-	-	ENSG00000250878		0.328	RP11-255P5.2-001	KNOWN	basic	lincRNA	METTL21EP	HGNC	lincRNA	OTTHUMT00000471205.1		0.00	39	0	TTTT			103544909	+1	tier1		no_errors	ENST00000605100	ensembl	human	known	74_37	rna	52.00	24	26	DEL	0.000:0.001:0.000:0.002	-
MFN2	9927	genome.wustl.edu	37	1	12064057	12064057	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:12064057G>A	ENST00000235329.5	+	12	1491	c.1169G>A	c.(1168-1170)tGc>tAc	p.C390Y	MFN2_ENST00000444836.1_Missense_Mutation_p.C390Y	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	390					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGGGTTTACTGCGAGGAAATG	0.502																																																	0													69.0	70.0	70.0					1																	12064057		2203	4300	6503	SO:0001583	missense	0			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1169G>A	1.37:g.12064057G>A	ENSP00000235329:p.Cys390Tyr		A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.C390Y	ENST00000235329.5	37	c.1169	CCDS30587.1	1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971469	0.74246	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000376337	D;D	0.94723	-3.5;-3.5	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.95233	0.8454	L	0.56769	1.78	0.80722	D	1	D	0.54397	0.966	P	0.55667	0.781	D	0.92920	0.6354	10	0.14252	T	0.57	-24.8331	18.809	0.92050	0.0:0.0:1.0:0.0	.	390	O95140	MFN2_HUMAN	Y	390;390;88	ENSP00000416338:C390Y;ENSP00000235329:C390Y	ENSP00000235329:C390Y	C	+	2	0	MFN2	11986644	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.168000	0.71908	2.688000	0.91661	0.650000	0.86243	TGC	MFN2	-	superfamily_P-loop_NTPase	ENSG00000116688		0.502	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2	-	0.00	39	0	G	NM_014874		12064057	+1	tier1	-	no_errors	ENST00000235329	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	A
MEX3A	92312	genome.wustl.edu	37	1	156051672	156051672	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:156051672G>A	ENST00000532414.2	-	1	117	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	MEX3A_ENST00000442784.1_5'Flank|LMNA_ENST00000368301.2_5'Flank	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	40						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					TCGAGAGCCAGCTGAAGGGCG	0.672																																																	0													18.0	19.0	19.0					1																	156051672		1366	2750	4116	SO:0001819	synonymous_variant	0			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.118C>T	1.37:g.156051672G>A				Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.L40	ENST00000532414.2	37	c.118	CCDS53377.1	1																																																																																			MEX3A	-	NULL	ENSG00000254726		0.672	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3A	HGNC	protein_coding	OTTHUMT00000046218.3	-	0.00	26	0	G	NM_001093725		156051672	-1	tier1	-	no_errors	ENST00000532414	ensembl	human	known	74_37	silent	24.39	31	10	SNP	0.984	A
MFRP	83552	genome.wustl.edu	37	11	119213688	119213688	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:119213688delG	ENST00000530681.1	-	10	1294	c.1150delC	c.(1150-1152)cacfs	p.H384fs	MFRP_ENST00000529147.1_5'Flank|C1QTNF5_ENST00000445041.2_5'UTR|C1QTNF5_ENST00000528368.1_5'Flank|C1QTNF5_ENST00000525657.1_5'Flank|MFRP_ENST00000555262.1_Frame_Shift_Del_p.H384fs|MFRP_ENST00000360167.4_Frame_Shift_Del_p.P308fs|MFRP_ENST00000449574.2_Frame_Shift_Del_p.H384fs	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	384	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H384fs*8(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GAGACGAGGTGGGGGGGTGGC	0.622																																																	1	Insertion - Frameshift(1)	large_intestine(1)											34.0	27.0	29.0					11																	119213688		2196	4294	6490	SO:0001589	frameshift_variant	0			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1150delC	11.37:g.119213688delG	ENSP00000456533:p.His384fs		B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Frame_Shift_Del	DEL	pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt	p.H384fs	ENST00000530681.1	37	c.1150	CCDS8421.1	11																																																																																			MFRP	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000235718		0.622	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	MFRP	HGNC	protein_coding	OTTHUMT00000415179.1		0.00	22	0	G	NM_031433		119213688	-1	tier1		no_errors	ENST00000449574	ensembl	human	known	74_37	frame_shift_del	45.83	13	11	DEL	0.000	-
MFSD8	256471	genome.wustl.edu	37	4	128854191	128854191	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:128854191G>T	ENST00000296468.3	-	9	939	c.812C>A	c.(811-813)gCc>gAc	p.A271D	MFSD8_ENST00000513559.1_Missense_Mutation_p.A226D|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_Missense_Mutation_p.P178T	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	271					cell death (GO:0008219)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						AACATTGATGGCCACAACAGC	0.343																																																	0													164.0	163.0	164.0					4																	128854191		2203	4300	6503	SO:0001583	missense	0			AK074564	CCDS3736.1	4q28.2	2014-09-17			ENSG00000164073	ENSG00000164073			28486	protein-coding gene	gene with protein product		611124	"""ceroid-lipofuscinosis, neuronal 7, late infantile, variant"""	CLN7		17564970	Standard	NM_152778		Approved	MGC33302	uc003ifp.3	Q8NHS3	OTTHUMG00000133303	ENST00000296468.3:c.812C>A	4.37:g.128854191G>T	ENSP00000296468:p.Ala271Asp		B2RDM1|B7Z205|Q8N2P3	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A271D	ENST00000296468.3	37	c.812	CCDS3736.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.67|12.67	2.006845|2.006845	0.35415|0.35415	.|.	.|.	ENSG00000164073|ENSG00000164073	ENST00000296468;ENST00000513559|ENST00000541133	T;T|T	0.59502|0.79141	0.26;0.26|-1.24	4.55|4.55	3.71|3.71	0.42584|0.42584	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.369557|.	0.30820|.	N|.	0.008816|.	T|T	0.70482|0.70482	0.3229|0.3229	L|L	0.53249|0.53249	1.67|1.67	0.18873|0.18873	N|N	0.999987|0.999987	P;P|B	0.49307|0.20887	0.71;0.922|0.049	B;B|B	0.43575|0.19666	0.235;0.424|0.026	T|T	0.53732|0.53732	-0.8397|-0.8397	10|9	0.36615|0.08837	T|T	0.2|0.75	-0.2417|-0.2417	12.7449|12.7449	0.57276|0.57276	0.0796:0.0:0.9204:0.0|0.0796:0.0:0.9204:0.0	.|.	233;271|178	B7Z280;Q8NHS3|B7Z2B2	.;MFSD8_HUMAN|.	D|T	271;226|178	ENSP00000296468:A271D;ENSP00000425000:A226D|ENSP00000439616:P178T	ENSP00000296468:A271D|ENSP00000439616:P178T	A|P	-|-	2|1	0|0	MFSD8|MFSD8	129073641|129073641	0.996000|0.996000	0.38824|0.38824	0.951000|0.951000	0.38953|0.38953	0.142000|0.142000	0.21351|0.21351	4.676000|4.676000	0.61627|0.61627	1.132000|1.132000	0.42129|0.42129	0.585000|0.585000	0.79938|0.79938	GCC|CCA	MFSD8	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000164073		0.343	MFSD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD8	HGNC	protein_coding	OTTHUMT00000257097.1	-	0.00	58	0	G	NM_152778		128854191	-1	tier1	-	no_errors	ENST00000296468	ensembl	human	known	74_37	missense	5.88	64	4	SNP	0.608	T
MGAT5B	146664	genome.wustl.edu	37	17	74900438	74900438	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:74900438delC	ENST00000569840.2	+	6	1198	c.624delC	c.(622-624)tgcfs	p.C208fs	MGAT5B_ENST00000428789.2_Frame_Shift_Del_p.C219fs|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Frame_Shift_Del_p.C208fs	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	208					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGTGGTTCTGCCCCCCGCTGC	0.682																																																	0													43.0	32.0	36.0					17																	74900438		2203	4295	6498	SO:0001589	frameshift_variant	0			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.624delC	17.37:g.74900438delC	ENSP00000456037:p.Cys208fs		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Frame_Shift_Del	DEL	superfamily_PyrdxlP-dep_Trfase	p.P221fs	ENST00000569840.2	37	c.657	CCDS59299.1	17																																																																																			MGAT5B	-	NULL	ENSG00000167889		0.682	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2		0.00	102	0	C	NM_144677		74900438	+1	tier1		no_errors	ENST00000428789	ensembl	human	known	74_37	frame_shift_del	25.76	49	17	DEL	0.987	-
MICAL3	57553	genome.wustl.edu	37	22	18291687	18291687	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:18291687A>C	ENST00000441493.2	-	29	5925	c.5573T>G	c.(5572-5574)cTg>cGg	p.L1858R	MICAL3_ENST00000580469.1_5'UTR|XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1858					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CACCTGCTGCAGCTGCCGCTG	0.647																																																	0													6.0	10.0	9.0					22																	18291687		1983	4071	6054	SO:0001583	missense	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5573T>G	22.37:g.18291687A>C	ENSP00000416015:p.Leu1858Arg		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.L1858R	ENST00000441493.2	37	c.5573	CCDS46659.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.11|18.11	3.551223|3.551223	0.65311|0.65311	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000252134|ENST00000441493	.|T	.|0.55052	.|0.54	5.95|5.95	4.89|4.89	0.63831|0.63831	.|Domain of unknown function DUF3585 (1);	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.76821|0.76821	0.4041|0.4041	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.82116|0.82116	-0.0616|-0.0616	5|10	.|0.87932	.|D	.|0	.|.	12.6095|12.6095	0.56544|0.56544	0.8762:0.0:0.0:0.1238|0.8762:0.0:0.0:0.1238	.|.	.|1858	.|Q7RTP6	.|MICA3_HUMAN	G|R	840|1858	.|ENSP00000416015:L1858R	.|ENSP00000416015:L1858R	C|L	-|-	1|2	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16671687|16671687	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.260000|7.260000	0.78391|0.78391	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	TGC|CTG	MICAL3	-	pfam_DUF3585	ENSG00000243156		0.647	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	-	0.00	44	0	A			18291687	-1	tier1	-	no_errors	ENST00000441493	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	C
MICAL3	57553	genome.wustl.edu	37	22	18387473	18387473	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:18387473T>C	ENST00000441493.2	-	3	749	c.397A>G	c.(397-399)Acc>Gcc	p.T133A	MICAL3_ENST00000444520.1_Missense_Mutation_p.T133A|MICAL3_ENST00000414725.2_Missense_Mutation_p.T133A|MICAL3_ENST00000383094.3_Missense_Mutation_p.T133A|MICAL3_ENST00000400561.2_Missense_Mutation_p.T133A|MICAL3_ENST00000585038.1_Missense_Mutation_p.T133A|MICAL3_ENST00000207726.7_Missense_Mutation_p.T133A|MICAL3_ENST00000429452.1_Missense_Mutation_p.T133A	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	133	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCATGTATGGTGAATGGCCAG	0.483																																																	0													228.0	203.0	211.0					22																	18387473		1568	3582	5150	SO:0001583	missense	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.397A>G	22.37:g.18387473T>C	ENSP00000416015:p.Thr133Ala		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.T133A	ENST00000441493.2	37	c.397	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	T	13.19	2.163225	0.38217	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.76	5.76	0.90799	.	0.045123	0.85682	D	0.000000	T	0.14787	0.0357	N	0.13371	0.34	0.47547	D	0.999451	B;B;B;B;P	0.36909	0.006;0.001;0.005;0.02;0.573	B;B;B;B;B	0.34873	0.012;0.006;0.023;0.043;0.191	T	0.06075	-1.0847	10	0.51188	T	0.08	.	16.0843	0.81031	0.0:0.0:0.0:1.0	.	133;133;133;133;133	B4DJ91;B2RXJ5;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	A	133	ENSP00000416015:T133A;ENSP00000414846:T133A;ENSP00000383406:T133A;ENSP00000410315:T133A;ENSP00000391827:T133A;ENSP00000372574:T133A;ENSP00000207726:T133A	ENSP00000207726:T133A	T	-	1	0	XXbac-B461K10.4;MICAL3	16767473	1.000000	0.71417	1.000000	0.80357	0.038000	0.13279	6.263000	0.72521	2.191000	0.70037	0.533000	0.62120	ACC	MICAL3	-	NULL	ENSG00000243156		0.483	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	-	0.00	112	0	T			18387473	-1	tier1	-	no_errors	ENST00000441493	ensembl	human	known	74_37	missense	39.47	44	30	SNP	1.000	C
MICALL2	79778	genome.wustl.edu	37	7	1484824	1484824	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:1484824C>T	ENST00000297508.7	-	6	1057	c.882G>A	c.(880-882)tcG>tcA	p.S294S	MICALL2_ENST00000405088.4_Silent_p.S82S	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	294	Mediates targeting to the cell plasma membrane. {ECO:0000250}.|Necessary and sufficient for interaction with actinins. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCCTGGCAGGCGAGTTGCCCG	0.687																																																	0													14.0	17.0	16.0					7																	1484824		2159	4266	6425	SO:0001819	synonymous_variant	0			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.882G>A	7.37:g.1484824C>T			D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Silent	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.S294	ENST00000297508.7	37	c.882	CCDS5324.1	7																																																																																			MICALL2	-	NULL	ENSG00000164877		0.687	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	-	0.00	85	0	C	NM_182924		1484824	-1	tier1	-	no_errors	ENST00000297508	ensembl	human	known	74_37	silent	36.73	31	18	SNP	0.000	T
MIER1	57708	genome.wustl.edu	37	1	67425468	67425469	+	Intron	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:67425468_67425469insT	ENST00000355356.3	+	6	689				MIER1_ENST00000371014.1_Intron|MIER1_ENST00000371016.1_Intron|MIER1_ENST00000371018.3_Intron|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000401041.1_Intron|MIER1_ENST00000401042.3_Intron|MIER1_ENST00000357692.2_Intron	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator						positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						ataaattaatatttttttaaaa	0.243																																																	0																																										SO:0001627	intron_variant	0				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.540+42->T	1.37:g.67425475_67425475dupT			C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	RNA	INS	-	NULL	ENST00000355356.3	37	NULL	CCDS41348.1	1																																																																																			MIER1	-	-	ENSG00000198160		0.243	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER1	HGNC	protein_coding	OTTHUMT00000025491.2		0.00	18	0	-	NM_020948		67425469	+1	tier1		no_errors	ENST00000493357	ensembl	human	known	74_37	rna	32.35	23	11	INS	0.365:0.205	T
MIIP	60672	genome.wustl.edu	37	1	12089365	12089365	+	Intron	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:12089365C>A	ENST00000235332.4	+	6	884				MIIP_ENST00000436478.2_Intron|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein											autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GGCTAGGCCGCTGAGTAGTCC	0.662																																																	0													14.0	18.0	17.0					1																	12089365		2199	4295	6494	SO:0001627	intron_variant	0			AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.715+27C>A	1.37:g.12089365C>A			C0KL22|Q96HU6|Q9H839|Q9HA00	RNA	SNP	-	NULL	ENST00000235332.4	37	NULL	CCDS143.1	1																																																																																			MIIP	-	-	ENSG00000116691		0.662	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIIP	HGNC	protein_coding	OTTHUMT00000006941.1	-	0.00	95	0	C	NM_021933		12089365	+1	tier1	-	no_errors	ENST00000466860	ensembl	human	known	74_37	rna	37.38	67	40	SNP	0.000	A
MINK1	50488	genome.wustl.edu	37	17	4784488	4784488	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:4784488A>T	ENST00000355280.6	+	4	438	c.242A>T	c.(241-243)aAc>aTc	p.N81I	MINK1_ENST00000347992.7_Missense_Mutation_p.N81I|RN7SL784P_ENST00000577319.1_RNA|MINK1_ENST00000453408.3_Missense_Mutation_p.N81I	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CACCACCGCAACATCGCCACC	0.587																																																	0													228.0	218.0	221.0					17																	4784488		692	1591	2283	SO:0001583	missense	0			AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.242A>T	17.37:g.4784488A>T	ENSP00000347427:p.Asn81Ile			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.N81I	ENST00000355280.6	37	c.242	CCDS45588.1	17	.	.	.	.	.	.	.	.	.	.	A	23.5	4.428484	0.83667	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.35789	1.29;1.29;1.29	5.09	4.02	0.46733	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.64594	0.2612	M	0.92833	3.35	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.73708	0.968;0.968;0.981;0.968	T	0.69401	-0.5155	9	0.87932	D	0	.	8.9406	0.35727	0.9125:0.0:0.0875:0.0	.	81;81;81;81	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	I	81	ENSP00000347427:N81I;ENSP00000406487:N81I;ENSP00000269296:N81I	ENSP00000269296:N81I	N	+	2	0	MINK1	.	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.066000	0.93949	0.960000	0.38005	0.533000	0.62120	AAC	MINK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000141503		0.587	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MINK1	HGNC	protein_coding	OTTHUMT00000439801.1	-	0.00	54	0	A	NM_015716		4784488	+1	tier1	-	no_errors	ENST00000355280	ensembl	human	known	74_37	missense	41.86	25	18	SNP	1.000	T
MIOS	54468	genome.wustl.edu	37	7	7612169	7612169	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:7612169T>C	ENST00000340080.4	+	4	484	c.63T>C	c.(61-63)tgT>tgC	p.C21C	MIOS_ENST00000405785.1_Silent_p.C21C	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	21						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGTTGTGTGTGACTCAGAAC	0.403																																																	0													123.0	110.0	114.0					7																	7612169		1888	4119	6007	SO:0001819	synonymous_variant	0				CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.63T>C	7.37:g.7612169T>C			B2RTV6|O75216|Q7L551|Q9H092	Silent	SNP	smart_WD40_repeat	p.C21	ENST00000340080.4	37	c.63	CCDS43554.1	7																																																																																			MIOS	-	NULL	ENSG00000164654		0.403	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIOS	HGNC	protein_coding	OTTHUMT00000326218.1	-	0.00	81	0	T	NM_019005		7612169	+1	tier1	-	no_errors	ENST00000340080	ensembl	human	known	74_37	silent	37.97	49	30	SNP	1.000	C
LIMA1	51474	genome.wustl.edu	37	12	50627995	50627997	+	Intron	DEL	TTT	TTT	-	rs530660438		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:50627995_50627997delTTT	ENST00000341247.4	-	3	269				LIMA1_ENST00000394943.3_Intron|MIR1293_ENST00000408677.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1						actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CAGAACAACCttttttttttttt	0.473																																																	0																																										SO:0001627	intron_variant	0			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.120-2502AAA>-	12.37:g.50628004_50628006delTTT			B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	RNA	DEL	-	NULL	ENST00000341247.4	37	NULL	CCDS8802.1	12																																																																																			MIR1293	-	-	ENSG00000221604		0.473	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	MIR1293	HGNC	protein_coding	OTTHUMT00000406235.2		0.00	17	0	TTT	NM_016357		50627997	-1	tier1		no_errors	ENST00000408677	ensembl	human	known	74_37	rna	10.71	25	3	DEL	0.541:0.545:0.544	-
MIR1303	100302284	genome.wustl.edu	37	5	154065370	154065370	+	RNA	DEL	T	T	-	rs572063794	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:154065370delT	ENST00000408625.1	+	0	35					NR_031638.1				microRNA 1303																		aactctacaaTtttttttttt	0.468														7	0.00139776	0.0	0.0014	5008	,	,		17497	0.002		0.001	False		,,,				2504	0.0031																0													39.0	43.0	42.0					5																	154065370		876	1991	2867			0					5	2011-09-12		2008-12-18	ENSG00000221552	ENSG00000221552		"""ncRNAs / Micro RNAs"""	35301	non-coding RNA	RNA, micro				MIRN1303			Standard	NR_031638		Approved	hsa-mir-1303					5.37:g.154065370delT				RNA	DEL	-	NULL	ENST00000408625.1	37	NULL		5																																																																																			MIR1303	-	-	ENSG00000221552		0.468	MIR1303-201	KNOWN	basic	miRNA	MIR1303	HGNC	miRNA			0.00	10	0	T	NR_031638		154065370	+1	tier1		no_errors	ENST00000408625	ensembl	human	known	74_37	rna	25.00	12	4	DEL	0.002	-
MIB1	57534	genome.wustl.edu	37	18	19408832	19408833	+	Intron	DEL	TT	TT	-	rs554184794		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:19408832_19408833delTT	ENST00000261537.6	+	12	2093				MIR133A1_ENST00000581072.1_RNA|MIR133A1_ENST00000384961.1_RNA|MIB1_ENST00000578646.1_Intron|MIR133A1_ENST00000581613.1_RNA|MIR133A1_ENST00000577659.1_RNA	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1						blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GTAGATAACCTTTTTTTTTTGG	0.332																																																	0																																										SO:0001627	intron_variant	0			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1829+9225TT>-	18.37:g.19408840_19408841delTT			B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	RNA	DEL	-	NULL	ENST00000261537.6	37	NULL	CCDS11871.1	18																																																																																			MIR133A1	-	-	ENSG00000265142		0.332	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR133A1	HGNC	protein_coding	OTTHUMT00000254675.1		0.00	13	0	TT	NM_020774		19408833	-1	tier1		no_errors	ENST00000581072	ensembl	human	known	74_37	rna	44.44	10	8	DEL	0.000:0.000	-
MIR146A	406938	genome.wustl.edu	37	5	159912629	159912629	+	lincRNA	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:159912629G>T	ENST00000385201.1	+	0	198					NR_029701.1				microRNA 146a																		ATGCTAAGCAGGGTTCCAAGT	0.413																																																	0																																												0					5q34	2011-09-12	2005-06-30	2008-12-18	ENSG00000207936			"""ncRNAs / Micro RNAs"""	31533	non-coding RNA	RNA, micro		610566	"""microRNA 146"""	MIRN146, MIRN146A			Standard	NR_029701		Approved	hsa-mir-146, hsa-mir-146a					5.37:g.159912629G>T				RNA	SNP	-	NULL	ENST00000385201.1	37	NULL		5																																																																																			MIR146A	-	-	ENSG00000253522		0.413	MIR146A-201	KNOWN	basic	miRNA	MIR146A	HGNC	lincRNA		-	0.00	8	0	G	NR_029701		159912629	+1	tier1	-	no_errors	ENST00000517927	ensembl	human	known	74_37	rna	55.56	4	5	SNP	0.022	T
MIR205HG	642587	genome.wustl.edu	37	1	209605629	209605629	+	lincRNA	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:209605629A>G	ENST00000384891.1	+	0	220					NR_029622.1				MIR205 host gene (non-protein coding)																		cgccgccgccaccaccgTagc	0.562																																																	0													15.0	15.0	15.0					1																	209605629		2055	4108	6163			0					1q32.2	2014-02-12	2011-11-07		ENSG00000230937	ENSG00000230937		"""Long non-coding RNAs"""	43562	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 510"""						Standard	NM_001104548		Approved	LINC00510	uc009xcn.3		OTTHUMG00000036267		1.37:g.209605629A>G				RNA	SNP	-	NULL	ENST00000384891.1	37	NULL		1																																																																																			MIR205HG	-	-	ENSG00000230937		0.562	MIR205HG-202	KNOWN	basic	miRNA	MIR205HG	HGNC	lincRNA		-	0.00	40	0	A			209605629	+1	tier1	-	no_errors	ENST00000366437	ensembl	human	known	74_37	rna	18.18	45	10	SNP	0.003	G
TRIM13	10206	genome.wustl.edu	37	13	50570574	50570575	+	5'Flank	DEL	TT	TT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:50570574_50570575delTT	ENST00000378182.3	+	0	0				TRIM13_ENST00000356017.4_5'Flank|MIR3613_ENST00000579844.1_RNA|TRIM13_ENST00000420995.2_5'Flank|TRIM13_ENST00000457662.2_5'Flank	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13						anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		AGGGTTGGGCTTTTTTTTTTGT	0.495																																																	0																																										SO:0001631	upstream_gene_variant	0			AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926		13.37:g.50570582_50570583delTT	Exception_encountered		B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	RNA	DEL	-	NULL	ENST00000378182.3	37	NULL	CCDS9423.1	13																																																																																			MIR3613	-	-	ENSG00000264864		0.495	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	MIR3613	HGNC	protein_coding	OTTHUMT00000354875.1		0.00	39	0	TT	NM_001007278		50570575	-1	tier1		no_errors	ENST00000579844	ensembl	human	known	74_37	rna	23.81	48	15	DEL	1.000:1.000	-
TRIM13	10206	genome.wustl.edu	37	13	50570605	50570606	+	5'Flank	DEL	AA	AA	-	rs201796222		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:50570605_50570606delAA	ENST00000378182.3	+	0	0				TRIM13_ENST00000356017.4_5'Flank|MIR3613_ENST00000579844.1_RNA|TRIM13_ENST00000420995.2_5'Flank|TRIM13_ENST00000457662.2_5'Flank	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13						anatomical structure morphogenesis (GO:0009653)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell death (GO:0010942)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macroautophagy (GO:0016239)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TGCAACGAACAAAAAAAAAAGT	0.51																																																	0																																										SO:0001631	upstream_gene_variant	0			AF220127	CCDS9423.1, CCDS41888.1	13q14	2013-01-09	2011-01-25	2006-09-26	ENSG00000204977	ENSG00000204977		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9976	protein-coding gene	gene with protein product		605661	"""ret finger protein 2"", ""tripartite motif-containing 13"""	RFP2		9599022	Standard	NM_213590		Approved	Leu5, RNF77, DLEU5	uc001vdp.1	O60858	OTTHUMG00000016926		13.37:g.50570613_50570614delAA	Exception_encountered		B2RB49|Q5UBW0|Q5W0U8|Q5W0U9|Q9BQ47|Q9C021	RNA	DEL	-	NULL	ENST00000378182.3	37	NULL	CCDS9423.1	13																																																																																			MIR3613	-	-	ENSG00000264864		0.510	TRIM13-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	MIR3613	HGNC	protein_coding	OTTHUMT00000354875.1		0.00	41	0	AA	NM_001007278		50570606	-1	tier1		no_errors	ENST00000579844	ensembl	human	known	74_37	rna	31.37	35	16	DEL	1.000:1.000	-
RILPL1	353116	genome.wustl.edu	37	12	124021036	124021039	+	5'Flank	DEL	TTTT	TTTT	-	rs547945277	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:124021036_124021039delTTTT	ENST00000376874.4	-	0	0				MIR3908_ENST00000579798.1_RNA	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1						epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		TGTTTACTAAtttttttttttttt	0.392																																																	0																																										SO:0001631	upstream_gene_variant	0			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686		12.37:g.124021044_124021047delTTTT	Exception_encountered		Q66K36|Q8N1M0	RNA	DEL	-	NULL	ENST00000376874.4	37	NULL	CCDS45006.1	12																																																																																			MIR3908	-	-	ENSG00000266655		0.392	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3908	HGNC	protein_coding	OTTHUMT00000400595.1		0.00	8	0	TTTT	NM_178314		124021039	+1	tier1		no_errors	ENST00000579798	ensembl	human	known	74_37	rna	18.18	18	4	DEL	0.136:0.138:0.140:0.142	-
LONRF1	91694	genome.wustl.edu	37	8	12584756	12584756	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:12584756delA	ENST00000398246.3	-	11	2080				MIR3926-2_ENST00000578598.1_RNA|LONRF1_ENST00000525024.1_Intron|LONRF1_ENST00000533751.1_Intron	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1								ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GGAGCTGGCCAAAAAGCAGGC	0.398																																																	0																																										SO:0001627	intron_variant	0			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.2011-1368T>-	8.37:g.12584756delA			B4DM29|B4DU84|Q8TEA0|Q9BSV1	RNA	DEL	-	NULL	ENST00000398246.3	37	NULL	CCDS5987.2	8																																																																																			MIR3926-2	-	-	ENSG00000266206		0.398	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3926-2	HGNC	protein_coding	OTTHUMT00000251693.2		0.00	37	0	A	NM_152271		12584756	-1	tier1		no_errors	ENST00000578598	ensembl	human	known	74_37	rna	16.33	41	8	DEL	0.006	-
ERC2	26059	genome.wustl.edu	37	3	55886574	55886574	+	Intron	DEL	A	A	-	rs10575780|rs59684995|rs398062340	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:55886574delA	ENST00000288221.6	-	14	2820				MIR3938_ENST00000582157.1_RNA	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2							cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		tttttaaattaaaaaaaaatt	0.373																																																	0																																										SO:0001627	intron_variant	0			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2564+35842T>-	3.37:g.55886574delA			Q2T9F6|Q86TK4	RNA	DEL	-	NULL	ENST00000288221.6	37	NULL	CCDS46851.1	3																																																																																			MIR3938	-	-	ENSG00000264013		0.373	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3938	HGNC	protein_coding	OTTHUMT00000350884.2		0.00	33	0	A	NM_015576		55886574	-1	tier1		no_errors	ENST00000582157	ensembl	human	known	74_37	rna	24.32	28	9	DEL	0.000	-
STRN3	29966	genome.wustl.edu	37	14	31483858	31483858	+	Intron	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:31483858G>T	ENST00000357479.5	-	1	479				STRN3_ENST00000355683.5_Intron|MIR624_ENST00000385217.1_RNA	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3						negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AAACCACTTAGGTGTAATGCT	0.313																																																	0													47.0	42.0	43.0					14																	31483858		1502	3414	4916	SO:0001627	intron_variant	0				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.282+11251C>A	14.37:g.31483858G>T			A2RTX7|A6NHZ7|Q9NRA5	RNA	SNP	-	NULL	ENST00000357479.5	37	NULL	CCDS41938.1	14																																																																																			MIR624	-	-	ENSG00000207952		0.313	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MIR624	HGNC	protein_coding	OTTHUMT00000409713.1	-	0.00	113	0	G	NM_014574		31483858	-1	tier1	-	no_errors	ENST00000385217	ensembl	human	known	74_37	rna	9.91	100	11	SNP	0.001	T
ITCH	83737	genome.wustl.edu	37	20	33054130	33054130	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:33054130delT	ENST00000262650.6	+	16	1683				ITCH_ENST00000483727.1_Intron|ITCH_ENST00000535650.1_Intron|MIR644A_ENST00000385262.1_RNA|ITCH_ENST00000374864.4_Intron			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase						apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						tttttgctgatttttttttag	0.318																																																	0										5,25,3896		0,0,5,4,17,1937	82.0	70.0	74.0			-1.6	0.0	20		74	9,53,7350		0,0,9,9,35,3653	no	intron	ITCH	NM_031483.4		0,0,14,13,52,5590	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8365,0.7641,0.8114			33054130	14,78,11246	1565	3574	5139	SO:0001627	intron_variant	0			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1548-3723T>-	20.37:g.33054130delT			A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	RNA	DEL	-	NULL	ENST00000262650.6	37	NULL	CCDS58768.1	20																																																																																			MIR644A	-	-	ENSG00000207997		0.318	ITCH-002	KNOWN	basic|CCDS	protein_coding	MIR644A	HGNC	protein_coding	OTTHUMT00000078783.2		0.00	75	0	T			33054130	+1	tier1		no_errors	ENST00000385262	ensembl	human	known	74_37	rna	35.71	63	35	DEL	0.030	-
ANKRD30BL	554226	genome.wustl.edu	37	2	133014620	133014620	+	Intron	SNP	G	G	A	rs199913868		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:133014620G>A	ENST00000470729.1	-	1	441				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						GTACCGCAGCGACCCGCCTAG	0.701																																																	0													26.0	45.0	39.0					2																	133014620		1552	3578	5130	SO:0001627	intron_variant	0					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.984+481C>T	2.37:g.133014620G>A			B8ZZL7	RNA	SNP	-	NULL	ENST00000470729.1	37	NULL		2																																																																																			MIR663B	-	-	ENSG00000221288		0.701	ANKRD30BL-002	KNOWN	basic	processed_transcript	MIR663B	HGNC	protein_coding	OTTHUMT00000331354.1	-	0.00	188	0	G	NR_027019		133014620	-1	tier1	-	no_errors	ENST00000408361	ensembl	human	known	74_37	rna	10.61	160	19	SNP	0.003	A
MIS18BP1	55320	genome.wustl.edu	37	14	45711241	45711241	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:45711241delT	ENST00000310806.4	-	4	1597	c.1139delA	c.(1138-1140)aatfs	p.N380fs	MIS18BP1_ENST00000492652.1_5'UTR	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	380					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.N380fs*3(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCCCACCTGATTTTTTTTAAG	0.308																																																	1	Deletion - Frameshift(1)	large_intestine(1)											56.0	65.0	62.0					14																	45711241		2202	4295	6497	SO:0001589	frameshift_variant	0			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.1139delA	14.37:g.45711241delT	ENSP00000309790:p.Asn380fs		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.N380fs	ENST00000310806.4	37	c.1139	CCDS9684.1	14																																																																																			MIS18BP1	-	NULL	ENSG00000129534		0.308	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	HGNC	protein_coding	OTTHUMT00000276795.2		0.00	53	0	T			45711241	-1			no_errors	ENST00000310806	ensembl	human	known	74_37	frame_shift_del	5.26	72	4	DEL	0.064	0
MITF	4286	genome.wustl.edu	37	3	69788686	69788686	+	5'UTR	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:69788686C>A	ENST00000448226.2	+	0	65				MITF_ENST00000352241.4_5'UTR			O75030	MITF_HUMAN	microphthalmia-associated transcription factor						bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GCCCAGCTACCTTCCCTCCGC	0.711			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)			Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0																																										SO:0001623	5_prime_UTR_variant	0				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.-63C>A	3.37:g.69788686C>A			B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	RNA	SNP	-	NULL	ENST00000448226.2	37	NULL		3																																																																																			MITF	-	-	ENSG00000187098		0.711	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	MITF	HGNC	protein_coding	OTTHUMT00000313947.1	-	0.00	35	0	C	NM_198159		69788686	+1	tier1	-	no_errors	ENST00000461511	ensembl	human	known	74_37	rna	34.48	19	10	SNP	0.916	A
MKI67	4288	genome.wustl.edu	37	10	129901402	129901402	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:129901402C>T	ENST00000368654.3	-	13	9077	c.8702G>A	c.(8701-8703)aGc>aAc	p.S2901N	MKI67_ENST00000368653.3_Missense_Mutation_p.S2541N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2901	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGTCTCCTGCTGCCAATTAC	0.547																																																	0													162.0	158.0	160.0					10																	129901402		2203	4300	6503	SO:0001583	missense	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.8702G>A	10.37:g.129901402C>T	ENSP00000357643:p.Ser2901Asn		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.S2901N	ENST00000368654.3	37	c.8702	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	C	8.869	0.948845	0.18356	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03242	4.0;4.0	4.45	0.221	0.15283	.	.	.	.	.	T	0.04634	0.0126	L	0.56769	1.78	0.09310	N	1	B;P;P	0.44776	0.234;0.532;0.843	B;B;P	0.44772	0.12;0.122;0.46	T	0.34976	-0.9807	9	0.17832	T	0.49	.	3.143	0.06462	0.1763:0.416:0.3127:0.095	.	2900;2541;2901	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	N	2901;2541;2900	ENSP00000357643:S2901N;ENSP00000357642:S2541N	ENSP00000357642:S2541N	S	-	2	0	MKI67	129791392	0.032000	0.19561	0.001000	0.08648	0.030000	0.12068	-0.058000	0.11750	-0.043000	0.13513	-0.165000	0.13383	AGC	MKI67	-	pfam_K167R	ENSG00000148773		0.547	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1		0.00	44	0	C	NM_002417		129901402	-1			no_errors	ENST00000368654	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.003	T
MKI67	4288	genome.wustl.edu	37	10	129903982	129903982	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:129903982G>A	ENST00000368654.3	-	13	6497	c.6122C>T	c.(6121-6123)gCg>gTg	p.A2041V	MKI67_ENST00000368653.3_Missense_Mutation_p.A1681V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2041	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCCTTAAACGCTTTGATGCT	0.507																																																	0													307.0	286.0	293.0					10																	129903982		2203	4300	6503	SO:0001583	missense	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6122C>T	10.37:g.129903982G>A	ENSP00000357643:p.Ala2041Val		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.A2041V	ENST00000368654.3	37	c.6122	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	2.228	-0.376739	0.05000	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02579	4.24;4.24	3.56	-7.12	0.01537	.	2.699170	0.02024	N	0.048055	T	0.02267	0.0070	L	0.36672	1.1	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.41215	-0.9521	10	0.30078	T	0.28	.	1.1454	0.01774	0.275:0.3294:0.2099:0.1856	.	2040;1681;2041	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	V	2041;1681;2040	ENSP00000357643:A2041V;ENSP00000357642:A1681V	ENSP00000357642:A1681V	A	-	2	0	MKI67	129793972	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.430000	0.00020	-2.072000	0.00879	-1.822000	0.00598	GCG	MKI67	-	pfam_K167R	ENSG00000148773		0.507	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	-	0.00	79	0	G	NM_002417		129903982	-1	tier1	-	no_errors	ENST00000368654	ensembl	human	known	74_37	missense	44.68	52	42	SNP	0.000	A
MKL1	57591	genome.wustl.edu	37	22	40807711	40807711	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:40807711G>T	ENST00000355630.3	-	15	3069	c.2479C>A	c.(2479-2481)Ctg>Atg	p.L827M	MKL1_ENST00000402042.1_Missense_Mutation_p.L777M|MKL1_ENST00000396617.3_3'UTR|MKL1_ENST00000407029.1_Missense_Mutation_p.L827M	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	827					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CCACTGGTCAGCAGGGGCAGC	0.667			T	RBM15	acute megakaryocytic leukemia																																			Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													45.0	45.0	45.0					22																	40807711		2203	4300	6503	SO:0001583	missense	0			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.2479C>A	22.37:g.40807711G>T	ENSP00000347847:p.Leu827Met		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.L827M	ENST00000355630.3	37	c.2479	CCDS14003.1	22	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001896	0.35320	.	.	ENSG00000196588	ENST00000355630;ENST00000402042;ENST00000407029	T;T;T	0.55930	0.49;0.49;0.49	4.36	2.22	0.28083	.	0.260199	0.31897	N	0.006893	T	0.66046	0.2750	M	0.67397	2.05	0.80722	D	1	P;D	0.76494	0.524;0.999	B;D	0.83275	0.051;0.996	T	0.65681	-0.6109	10	0.72032	D	0.01	-14.3972	8.8922	0.35441	0.0789:0.0:0.772:0.149	.	777;827	B0QY83;Q969V6	.;MKL1_HUMAN	M	827;777;827	ENSP00000347847:L827M;ENSP00000385584:L777M;ENSP00000385835:L827M	ENSP00000347847:L827M	L	-	1	2	MKL1	39137657	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	5.134000	0.64770	0.572000	0.29383	-0.314000	0.08810	CTG	MKL1	-	NULL	ENSG00000196588		0.667	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKL1	HGNC	protein_coding	OTTHUMT00000321522.1	-	0.00	44	0	G	NM_020831		40807711	-1	tier1	-	no_errors	ENST00000355630	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T
MKL2	57496	genome.wustl.edu	37	16	14346300	14346300	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:14346300delC	ENST00000341243.5	+	13	2611	c.2611delC	c.(2611-2613)cccfs	p.P872fs	MKL2_ENST00000574045.1_Frame_Shift_Del_p.P833fs|MKL2_ENST00000318282.5_Frame_Shift_Del_p.P833fs|MKL2_ENST00000571589.1_Frame_Shift_Del_p.P883fs			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	872					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GACAAAAGATCCCCCCCGCTA	0.562																																																	0													78.0	79.0	79.0					16																	14346300		2197	4300	6497	SO:0001589	frameshift_variant	0			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.2611delC	16.37:g.14346300delC	ENSP00000345841:p.Pro872fs		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Frame_Shift_Del	DEL	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.R873fs	ENST00000341243.5	37	c.2611		16																																																																																			MKL2	-	NULL	ENSG00000186260		0.562	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding			0.00	34	0	C	NM_014048		14346300	+1	tier1		no_errors	ENST00000341243	ensembl	human	known	74_37	frame_shift_del	36.36	21	12	DEL	1.000	-
MKRN2	23609	genome.wustl.edu	37	3	12613765	12613765	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:12613765T>C	ENST00000170447.7	+	4	672	c.535T>C	c.(535-537)Tgc>Cgc	p.C179R	MKRN2_ENST00000448482.1_Missense_Mutation_p.C177R|MKRN2_ENST00000411987.1_Missense_Mutation_p.C136R	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	179					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TGCTGGGGAGTGCCGGTTTGG	0.597																																																	0													84.0	75.0	78.0					3																	12613765		2203	4300	6503	SO:0001583	missense	0				CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"""RING-type (C3HC4) zinc fingers"""	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.535T>C	3.37:g.12613765T>C	ENSP00000170447:p.Cys179Arg		A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.C179R	ENST00000170447.7	37	c.535	CCDS33702.1	3	.	.	.	.	.	.	.	.	.	.	T	22.4	4.291263	0.80914	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	D;D;D	0.99951	-8.74;-8.74;-8.74	5.38	5.38	0.77491	Zinc finger, CCCH-type (3);	0.040129	0.85682	D	0.000000	D	0.99949	0.9978	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.989;0.995;0.995	D	0.95585	0.8650	10	0.87932	D	0	.	15.566	0.76294	0.0:0.0:0.0:1.0	.	136;177;179	B4DPR4;C9J494;Q9H000	.;.;MKRN2_HUMAN	R	179;136;177	ENSP00000170447:C179R;ENSP00000396340:C136R;ENSP00000397983:C177R	ENSP00000170447:C179R	C	+	1	0	MKRN2	12588765	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.521000	0.81832	2.254000	0.74563	0.533000	0.62120	TGC	MKRN2	-	pfam_Znf_CCCH,smart_Znf_CCCH	ENSG00000075975		0.597	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN2	HGNC	protein_coding	OTTHUMT00000339679.1	-	0.00	64	0	T	NM_014160		12613765	+1	tier1	-	no_errors	ENST00000170447	ensembl	human	known	74_37	missense	29.51	43	18	SNP	1.000	C
MLIP	90523	genome.wustl.edu	37	6	54002313	54002313	+	Intron	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:54002313G>T	ENST00000274897.5	+	4	725				MLIP_ENST00000514921.1_Missense_Mutation_p.Q471H|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000502396.1_Missense_Mutation_p.Q482H|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000511744.1_3'UTR	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein							nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GGGAACTCCAGGTTTCTGAAT	0.498																																																	0																																										SO:0001627	intron_variant	0			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.613-11541G>T	6.37:g.54002313G>T			B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	NULL	p.Q482H	ENST00000274897.5	37	c.1446	CCDS4954.1	6	.	.	.	.	.	.	.	.	.	.	G	6.807	0.518008	0.13005	.	.	ENSG00000146147	ENST00000514921;ENST00000503951;ENST00000502396	T;T;T	0.54479	1.73;0.57;1.74	5.04	4.18	0.49190	.	.	.	.	.	T	0.50939	0.1645	.	.	.	0.33287	D	0.563001	P;D;P	0.59767	0.899;0.986;0.899	P;P;P	0.55999	0.729;0.789;0.729	T	0.57236	-0.7846	8	0.56958	D	0.05	.	10.8951	0.47019	0.0875:0.0:0.9125:0.0	.	482;482;471	Q5VWP3-3;B7ZA42;D6RE05	.;.;.	H	471;430;482	ENSP00000425142:Q471H;ENSP00000426830:Q430H;ENSP00000426290:Q482H	ENSP00000426290:Q482H	Q	+	3	2	MLIP	54110272	0.000000	0.05858	0.205000	0.23548	0.014000	0.08584	0.593000	0.23999	1.134000	0.42165	0.591000	0.81541	CAG	MLIP	-	NULL	ENSG00000146147		0.498	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	-	0.00	27	0	G	NM_138569		54002313	+1	tier1	-	no_errors	ENST00000502396	ensembl	human	putative	74_37	missense	38.10	13	8	SNP	0.207	T
MLLT3	4300	genome.wustl.edu	37	9	20363485	20363485	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:20363485G>T	ENST00000380338.4	-	7	1606	c.1320C>A	c.(1318-1320)agC>agA	p.S440R	MLLT3_ENST00000380321.1_Missense_Mutation_p.S34R|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_Missense_Mutation_p.S34R|MLLT3_ENST00000429426.2_Missense_Mutation_p.S437R	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	440					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGCGACTTCGGCTGCCTCCTC	0.468			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	0													155.0	134.0	141.0					9																	20363485		2203	4300	6503	SO:0001583	missense	0			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.1320C>A	9.37:g.20363485G>T	ENSP00000369695:p.Ser440Arg		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.S440R	ENST00000380338.4	37	c.1320	CCDS6494.1	9	.	.	.	.	.	.	.	.	.	.	G	7.177	0.588835	0.13812	.	.	ENSG00000171843	ENST00000380338;ENST00000355930;ENST00000380323;ENST00000429426;ENST00000540751;ENST00000380321	.	.	.	5.49	1.37	0.22104	.	0.174595	0.64402	D	0.000008	T	0.22085	0.0532	N	0.14661	0.345	0.44492	D	0.997432	P;B	0.41041	0.736;0.148	B;B	0.30029	0.11;0.034	T	0.03728	-1.1009	9	0.26408	T	0.33	-10.1161	9.9591	0.41686	0.3066:0.0:0.6934:0.0	.	437;440	B7Z755;P42568	.;AF9_HUMAN	R	440;34;34;437;479;34	.	ENSP00000348196:S34R	S	-	3	2	MLLT3	20353485	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.425000	0.21346	0.319000	0.23209	-0.152000	0.13540	AGC	MLLT3	-	NULL	ENSG00000171843		0.468	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1	-	0.00	56	0	G	NM_004529		20363485	-1	tier1	-	no_errors	ENST00000380338	ensembl	human	known	74_37	missense	11.36	38	5	SNP	1.000	T
MLLT3	4300	genome.wustl.edu	37	9	20414367	20414367	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:20414367G>A	ENST00000380338.4	-	5	763	c.477C>T	c.(475-477)agC>agT	p.S159S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S156S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	159	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctgctgctac	0.532			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	0													8.0	14.0	12.0					9																	20414367		1631	3368	4999	SO:0001819	synonymous_variant	0			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.477C>T	9.37:g.20414367G>A			B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	pfam_YEATS,pfscan_YEATS	p.S159	ENST00000380338.4	37	c.477	CCDS6494.1	9																																																																																			MLLT3	-	NULL	ENSG00000171843		0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1	-	0.00	61	0	G	NM_004529		20414367	-1	tier1	-	no_errors	ENST00000380338	ensembl	human	known	74_37	silent	11.11	56	7	SNP	1.000	A
MLXIP	22877	genome.wustl.edu	37	12	122620180	122620180	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:122620180delG	ENST00000319080.7	+	11	2131	c.1999delG	c.(1999-2001)gggfs	p.G668fs	MLXIP_ENST00000538698.1_Frame_Shift_Del_p.G275fs					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCCGCTGCATGGGGGCAGCCC	0.677																																					Esophageal Squamous(105;787 1493 16200 18566 52466)												0													11.0	15.0	14.0					12																	122620180		1935	4116	6051	SO:0001589	frameshift_variant	0			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1999delG	12.37:g.122620180delG	ENSP00000312834:p.Gly668fs			Frame_Shift_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.G668fs	ENST00000319080.7	37	c.1999		12																																																																																			MLXIP	-	NULL	ENSG00000175727		0.677	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	MLXIP	HGNC	protein_coding	OTTHUMT00000401718.2		0.00	75	0	G	NM_014938		122620180	+1	tier1		no_errors	ENST00000319080	ensembl	human	known	74_37	frame_shift_del	45.21	40	33	DEL	0.001	-
MMEL1	79258	genome.wustl.edu	37	1	2530095	2530095	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:2530095G>T	ENST00000378412.3	-	12	1337	c.1176C>A	c.(1174-1176)gcC>gcA	p.A392A	MMEL1_ENST00000502556.1_Silent_p.A235A|MMEL1_ENST00000288709.6_Silent_p.A383A			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	392						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGCCTCACCTGGCTGAGTAGG	0.557																																																	0													117.0	108.0	111.0					1																	2530095		2203	4300	6503	SO:0001819	synonymous_variant	0			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1176C>A	1.37:g.2530095G>T			B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.A392	ENST00000378412.3	37	c.1176	CCDS30569.2	1																																																																																			MMEL1	-	pfam_Peptidase_M13_N	ENSG00000142606		0.557	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMEL1	HGNC	protein_coding	OTTHUMT00000002395.2	-	0.00	62	0	G	NM_033467		2530095	-1	tier1	-	no_errors	ENST00000378412	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.950	T
MMACHC	25974	genome.wustl.edu	37	1	45973942	45973942	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:45973942G>T	ENST00000401061.4	+	3	615	c.335G>T	c.(334-336)cGc>cTc	p.R112L		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	112					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCAACCGACGCCCCAAGATC	0.562																																																	0													73.0	75.0	74.0					1																	45973942		1942	4132	6074	SO:0001583	missense	0				CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.335G>T	1.37:g.45973942G>T	ENSP00000383840:p.Arg112Leu		Q5T157|Q9BRQ7	Missense_Mutation	SNP	NULL	p.R112L	ENST00000401061.4	37	c.335	CCDS41324.1	1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317212	0.60524	.	.	ENSG00000132763	ENST00000401061	D	0.97665	-4.48	5.67	4.75	0.60458	.	0.098103	0.64402	D	0.000003	D	0.96883	0.8982	M	0.62209	1.925	0.53005	D	0.999963	D	0.56035	0.974	P	0.53809	0.735	D	0.96673	0.9498	10	0.87932	D	0	-12.8481	11.1777	0.48610	0.1487:0.0:0.8513:0.0	.	112	Q9Y4U1	MMAC_HUMAN	L	112	ENSP00000383840:R112L	ENSP00000383840:R112L	R	+	2	0	MMACHC	45746529	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	4.577000	0.60922	1.404000	0.46819	0.462000	0.41574	CGC	MMACHC	-	NULL	ENSG00000132763		0.562	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMACHC	HGNC	protein_coding	OTTHUMT00000020864.2	-	0.00	38	0	G	NM_015506		45973942	+1	tier1	-	no_errors	ENST00000401061	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T
MMP24	10893	genome.wustl.edu	37	20	33857673	33857673	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:33857673G>T	ENST00000246186.6	+	7	1390	c.1305G>T	c.(1303-1305)agG>agT	p.R435S	MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|EDEM2_ENST00000540582.1_Intron|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000433764.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	435					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CCTATGAAAGGGCCGATGGGA	0.557																																																	0													41.0	46.0	44.0					20																	33857673		1868	4012	5880	SO:0001583	missense	0			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.1305G>T	20.37:g.33857673G>T	ENSP00000246186:p.Arg435Ser		B7ZBG8|Q9H440	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.R435S	ENST00000246186.6	37	c.1305	CCDS46593.1	20	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524661	0.64747	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.02158	4.42	4.84	-0.375	0.12509	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.07098	0.0180	M	0.72353	2.195	0.47065	D	0.999303	D	0.56035	0.974	P	0.62885	0.908	T	0.08680	-1.0710	10	0.72032	D	0.01	.	6.0845	0.19960	0.3644:0.1228:0.5128:0.0	.	435	Q9Y5R2	MMP24_HUMAN	S	435;383	ENSP00000246186:R435S	ENSP00000246186:R435S	R	+	3	2	MMP24	33321087	0.461000	0.25783	0.992000	0.48379	0.953000	0.61014	0.000000	0.12993	-0.186000	0.10533	-0.251000	0.11542	AGG	MMP24	-	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat	ENSG00000125966		0.557	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24	HGNC	protein_coding	OTTHUMT00000078851.4		0.00	73	0	G	NM_006690		33857673	+1			no_errors	ENST00000246186	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.811	T
MMP9	4318	genome.wustl.edu	37	20	44641089	44641089	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:44641089G>A	ENST00000372330.3	+	8	1217	c.1198G>A	c.(1198-1200)Gcg>Acg	p.A400T	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	400					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CCTCGTGGCGGCGCATGAGTT	0.652																																																	0													56.0	55.0	56.0					20																	44641089		2203	4300	6503	SO:0001583	missense	0				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1198G>A	20.37:g.44641089G>A	ENSP00000361405:p.Ala400Thr		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A	p.A400T	ENST00000372330.3	37	c.1198	CCDS13390.1	20	.	.	.	.	.	.	.	.	.	.	G	22.7	4.323394	0.81580	.	.	ENSG00000100985	ENST00000372330;ENST00000545925	T	0.25250	1.81	4.99	4.99	0.66335	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53899	0.1825	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58640	-0.7601	10	0.87932	D	0	.	17.4497	0.87588	0.0:0.0:1.0:0.0	.	400	P14780	MMP9_HUMAN	T	400;45	ENSP00000361405:A400T	ENSP00000361405:A400T	A	+	1	0	MMP9	44074496	1.000000	0.71417	0.193000	0.23327	0.119000	0.20118	9.519000	0.98025	2.606000	0.88127	0.561000	0.74099	GCG	MMP9	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A	ENSG00000100985		0.652	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP9	HGNC	protein_coding	OTTHUMT00000080337.1	-	0.00	81	0	G			44641089	+1	tier1	-	no_errors	ENST00000372330	ensembl	human	known	74_37	missense	37.50	35	21	SNP	0.998	A
MN1	4330	genome.wustl.edu	37	22	28196395	28196395	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:28196395C>G	ENST00000302326.4	-	1	1091	c.137G>C	c.(136-138)gGc>gCc	p.G46A		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	46					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ATCCACAGGGCCAGGGGGCCC	0.642			T	ETV6	"""AML, meningioma"""																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	0													56.0	63.0	61.0					22																	28196395		1898	4107	6005	SO:0001583	missense	0			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.137G>C	22.37:g.28196395C>G	ENSP00000304956:p.Gly46Ala		A9Z1V9	Missense_Mutation	SNP	NULL	p.G46A	ENST00000302326.4	37	c.137	CCDS42998.1	22	.	.	.	.	.	.	.	.	.	.	C	10.42	1.346595	0.24426	.	.	ENSG00000169184	ENST00000302326	T	0.69561	-0.41	4.32	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.49184	0.1542	N	0.19112	0.55	0.37796	D	0.927549	B	0.26602	0.154	B	0.23716	0.048	T	0.48603	-0.9021	10	0.27785	T	0.31	-15.7389	12.823	0.57704	0.0:0.6864:0.3136:0.0	.	46	Q10571	MN1_HUMAN	A	46	ENSP00000304956:G46A	ENSP00000304956:G46A	G	-	2	0	MN1	26526395	1.000000	0.71417	0.975000	0.42487	0.573000	0.36030	3.208000	0.51114	1.057000	0.40506	0.462000	0.41574	GGC	MN1	-	NULL	ENSG00000169184		0.642	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	-	0.00	53	0	C	NM_002430		28196395	-1	tier1	-	no_errors	ENST00000302326	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	G
MNS1	55329	genome.wustl.edu	37	15	56735707	56735707	+	Missense_Mutation	SNP	C	C	T	rs529820032	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:56735707C>T	ENST00000260453.3	-	7	1096	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	311	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TTCACGTTGCCGCAGCATTTC	0.294													C|||	3	0.000599042	0.0008	0.0	5008	,	,		17510	0.0		0.0	False		,,,				2504	0.002																0													115.0	108.0	110.0					15																	56735707		2192	4291	6483	SO:0001583	missense	0			AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.932G>A	15.37:g.56735707C>T	ENSP00000260453:p.Arg311Gln		Q8IYT6|Q9NUP4	Missense_Mutation	SNP	NULL	p.R311Q	ENST00000260453.3	37	c.932	CCDS10158.1	15	.	.	.	.	.	.	.	.	.	.	C	8.323	0.824765	0.16678	.	.	ENSG00000138587	ENST00000260453	T	0.09538	2.97	5.76	2.52	0.30459	.	0.110120	0.64402	N	0.000007	T	0.03739	0.0106	N	0.08118	0	0.80722	D	1	B	0.12630	0.006	B	0.09377	0.004	T	0.34254	-0.9836	10	0.06099	T	0.92	-4.6907	5.1867	0.15187	0.0:0.5641:0.0:0.4359	.	311	Q8NEH6	MNS1_HUMAN	Q	311	ENSP00000260453:R311Q	ENSP00000260453:R311Q	R	-	2	0	MNS1	54522999	0.909000	0.30893	0.988000	0.46212	0.998000	0.95712	1.157000	0.31724	0.771000	0.33359	0.637000	0.83480	CGG	MNS1	-	NULL	ENSG00000138587		0.294	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNS1	HGNC	protein_coding	OTTHUMT00000255047.2	-	0.00	39	0	C	NM_018365		56735707	-1	tier1	rs140554714	no_errors	ENST00000260453	ensembl	human	known	74_37	missense	42.31	15	11	SNP	1.000	T
MOB1B	92597	genome.wustl.edu	37	4	71840885	71840885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:71840885G>A	ENST00000309395.2	+	4	492	c.291G>A	c.(289-291)tgG>tgA	p.W97*	MOB1B_ENST00000396051.2_Nonsense_Mutation_p.W102*|MOB1B_ENST00000511449.1_Intron	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	97					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										AGTATCATTGGGCAGATGGAA	0.348																																																	0													90.0	89.0	89.0					4																	71840885		2203	4300	6503	SO:0001587	stop_gained	0			BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"""MOB kinase activators"""	29801	protein-coding gene	gene with protein product	"""Mob4A protein"""	609282	"""MOB1, Mps One Binder kinase activator-like 1A (yeast)"", ""MOB1 Mps One Binder homolog B (yeast)"""	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.291G>A	4.37:g.71840885G>A	ENSP00000310189:p.Trp97*		B2R8U6|B4DRY3|Q8IY23	Nonsense_Mutation	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.W97*	ENST00000309395.2	37	c.291	CCDS34002.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.862876	0.97036	.	.	ENSG00000173542	ENST00000502869;ENST00000309395;ENST00000396051	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7993	20.5792	0.99380	0.0:0.0:1.0:0.0	.	.	.	.	X	102;97;102	.	ENSP00000310189:W97X	W	+	3	0	MOBKL1A	72059749	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.675000	0.98638	2.873000	0.98535	0.561000	0.74099	TGG	MOB1B	-	pfam_Mob1_phocein,superfamily_Mob1_phocein	ENSG00000173542		0.348	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB1B	HGNC	protein_coding	OTTHUMT00000362634.1	-	0.00	42	0	G	NM_173468		71840885	+1	tier1	-	no_errors	ENST00000309395	ensembl	human	known	74_37	nonsense	36.00	48	27	SNP	1.000	A
MOB3A	126308	genome.wustl.edu	37	19	2078178	2078178	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:2078178C>T	ENST00000357066.3	-	3	761	c.382G>A	c.(382-384)Gcg>Acg	p.A128T	MOB3A_ENST00000592143.1_Intron|MOB3A_ENST00000592280.1_Missense_Mutation_p.A128T	NM_130807.2	NP_570719.1	Q96BX8	MOB3A_HUMAN	MOB kinase activator 3A	128						intracellular (GO:0005622)	metal ion binding (GO:0046872)										TTGATCTGCGCCTCGATCCAG	0.602																																																	0													74.0	55.0	61.0					19																	2078178		2203	4300	6503	SO:0001583	missense	0			AK095471	CCDS12081.1	19p13.3	2011-09-28	2011-09-28	2011-09-28	ENSG00000172081	ENSG00000172081		"""MOB kinase activators"""	29802	protein-coding gene	gene with protein product	"""MOB LAK"""		"""MOB1, Mps One Binder kinase activator-like 2A (yeast)"""	MOBKL2A		12477932	Standard	NM_130807		Approved	MOB1C, MOB-LAK, moblak	uc002luv.3	Q96BX8		ENST00000357066.3:c.382G>A	19.37:g.2078178C>T	ENSP00000349575:p.Ala128Thr		B3KTF1|O75249|Q8TF69	Missense_Mutation	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.A128T	ENST00000357066.3	37	c.382	CCDS12081.1	19	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323951	0.24080	.	.	ENSG00000172081	ENST00000357066	.	.	.	4.65	4.65	0.58169	.	0.252524	0.38663	N	0.001603	T	0.22627	0.0546	N	0.05230	-0.09	0.29120	N	0.880334	B	0.02656	0.0	B	0.06405	0.002	T	0.03887	-1.0995	9	0.12766	T	0.61	-20.3379	16.3333	0.83050	0.0:1.0:0.0:0.0	.	128	Q96BX8	MOB3A_HUMAN	T	128	.	ENSP00000349575:A128T	A	-	1	0	MOBKL2A	2029178	0.997000	0.39634	0.568000	0.28447	0.231000	0.25187	2.374000	0.44274	2.430000	0.82344	0.650000	0.86243	GCG	MOB3A	-	pfam_Mob1_phocein,superfamily_Mob1_phocein	ENSG00000172081		0.602	MOB3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB3A	HGNC	protein_coding	OTTHUMT00000450893.1	-	0.00	46	0	C	NM_130807		2078178	-1	tier1	-	no_errors	ENST00000357066	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	T
MOCOS	55034	genome.wustl.edu	37	18	33836815	33836815	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:33836815delT	ENST00000588132.1	+	0	6				MOCOS_ENST00000261326.5_Intron					molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGACATCACTTTTTTTCCCT	0.333																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000588132.1:c.*3T>-	18.37:g.33836815delT				RNA	DEL	-	NULL	ENST00000588132.1	37	NULL		18																																																																																			MOCOS	-	-	ENSG00000075643		0.333	MOCOS-002	KNOWN	basic	processed_transcript	MOCOS	HGNC	protein_coding	OTTHUMT00000444104.1		0.00	14	0	T			33836815	+1	tier1		no_errors	ENST00000588132	ensembl	human	known	74_37	rna	41.18	10	7	DEL	0.000	-
MOGS	7841	genome.wustl.edu	37	2	74692123	74692123	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:74692123G>C	ENST00000233616.4	-	1	414	c.252C>G	c.(250-252)gaC>gaG	p.D84E	MOGS_ENST00000535045.1_Missense_Mutation_p.D84E|MOGS_ENST00000409065.1_Missense_Mutation_p.D84E|MOGS_ENST00000452063.2_Intron|MOGS_ENST00000462443.1_Intron	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	84	Required for endoplasmic reticulum targeting. {ECO:0000250}.				cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGCTGGAGGAGTCGGCAGGCA	0.701																																																	0													14.0	20.0	18.0					2																	74692123		2103	4188	6291	SO:0001583	missense	0			X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.252C>G	2.37:g.74692123G>C	ENSP00000233616:p.Asp84Glu		A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like	p.D84E	ENST00000233616.4	37	c.252	CCDS42700.1	2	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709888	0.30322	.	.	ENSG00000115275	ENST00000233616;ENST00000409065;ENST00000535045	T;T;T	0.36340	1.26;1.26;1.26	4.81	3.94	0.45596	.	0.187606	0.45361	D	0.000380	T	0.19967	0.0480	L	0.29908	0.895	0.32379	N	0.554846	P;B	0.35493	0.505;0.334	B;B	0.33846	0.171;0.089	T	0.20672	-1.0268	10	0.02654	T	1	-10.4234	8.8951	0.35458	0.1001:0.0:0.8999:0.0	.	84;84	B4E3B8;Q13724	.;MOGS_HUMAN	E	84	ENSP00000233616:D84E;ENSP00000386493:D84E;ENSP00000439971:D84E	ENSP00000233616:D84E	D	-	3	2	MOGS	74545631	1.000000	0.71417	0.996000	0.52242	0.015000	0.08874	1.440000	0.35024	1.251000	0.43983	-0.140000	0.14226	GAC	MOGS	-	pfam_Glycoside_hydrolase_63	ENSG00000115275		0.701	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGS	HGNC	protein_coding	OTTHUMT00000328382.1	-	0.00	21	0	G	NM_006302		74692123	-1	tier1	-	no_errors	ENST00000233616	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	C
MON1A	84315	genome.wustl.edu	37	3	49947762	49947762	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:49947762T>G	ENST00000417270.1	-	5	1886	c.1193A>C	c.(1192-1194)gAc>gCc	p.D398A	MON1A_ENST00000296473.3_Missense_Mutation_p.D487A|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000455683.2_Missense_Mutation_p.D325A|MON1A_ENST00000483022.1_5'Flank			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	390										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CAGGCAGAGGTCAGTGTCAGG	0.627																																																	0													81.0	68.0	72.0					3																	49947762		2203	4300	6503	SO:0001583	missense	0			AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"""MON1 homolog A (yeast)"""			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.1193A>C	3.37:g.49947762T>G	ENSP00000399613:p.Asp398Ala		B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1	p.D487A	ENST00000417270.1	37	c.1460		3	.	.	.	.	.	.	.	.	.	.	T	15.52	2.857849	0.51376	.	.	ENSG00000164077	ENST00000296473;ENST00000417270;ENST00000455683	.	.	.	5.92	5.92	0.95590	.	0.225378	0.52532	D	0.000069	T	0.61974	0.2390	L	0.40543	1.245	0.58432	D	0.999993	B;D;B	0.56287	0.095;0.975;0.146	B;P;B	0.53861	0.03;0.736;0.079	T	0.59537	-0.7436	8	.	.	.	-25.1138	16.3662	0.83325	0.0:0.0:0.0:1.0	.	228;325;390	Q86VX9-3;G5E9N1;Q86VX9	.;.;MON1A_HUMAN	A	487;398;325	.	.	D	-	2	0	MON1A	49922766	1.000000	0.71417	0.978000	0.43139	0.936000	0.57629	6.163000	0.71880	2.274000	0.75844	0.533000	0.62120	GAC	MON1A	-	pfam_Vacuolar_fusion_protein_MON1	ENSG00000164077		0.627	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	MON1A	HGNC	protein_coding	OTTHUMT00000345538.2	-	0.00	23	0	T	NM_032355		49947762	-1	tier1	-	no_errors	ENST00000296473	ensembl	human	known	74_37	missense	30.00	21	9	SNP	0.989	G
MORC3	23515	genome.wustl.edu	37	21	37711111	37711111	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:37711111C>T	ENST00000400485.1	+	5	576	c.500C>T	c.(499-501)gCt>gTt	p.A167V	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	167					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GCCAGCCTTGCTGCAATTCTG	0.363																																																	0													120.0	108.0	112.0					21																	37711111		1868	4101	5969	SO:0001583	missense	0			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.500C>T	21.37:g.37711111C>T	ENSP00000383333:p.Ala167Val		A8KA92|Q9UEZ2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.A167V	ENST00000400485.1	37	c.500	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	C	16.45	3.125556	0.56721	.	.	ENSG00000159256	ENST00000400485	T	0.14516	2.5	5.74	3.73	0.42828	ATPase-like, ATP-binding domain (1);	0.515837	0.21975	N	0.066388	T	0.08758	0.0217	L	0.27053	0.805	0.28187	N	0.927927	B	0.17852	0.024	B	0.20184	0.028	T	0.15122	-1.0448	9	.	.	.	-18.6855	7.7452	0.28864	0.3322:0.3827:0.2851:0.0	.	167	Q14149	MORC3_HUMAN	V	167	ENSP00000383333:A167V	.	A	+	2	0	MORC3	36632981	0.981000	0.34729	1.000000	0.80357	0.998000	0.95712	1.479000	0.35453	2.722000	0.93159	0.591000	0.81541	GCT	MORC3	-	superfamily_HATPase_ATP-bd	ENSG00000159256		0.363	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	-	0.00	45	0	C	NM_015358		37711111	+1	tier1	-	no_errors	ENST00000400485	ensembl	human	known	74_37	missense	35.48	20	11	SNP	0.893	T
MORN1	79906	genome.wustl.edu	37	1	2318863	2318863	+	Missense_Mutation	SNP	C	C	T	rs146451358		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:2318863C>T	ENST00000378531.3	-	4	526	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Missense_Mutation_p.R118Q	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	118										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CAGACCTTCCCGCATGCCGTG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		18738	0.0		0.0	False		,,,				2504	0.001																0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	106.0	101.0	103.0		353	3.7	0.9	1	dbSNP_134	103	0,8600		0,0,4300	no	missense	MORN1	NM_024848.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	118/498	2318863	1,13005	2203	4300	6503	SO:0001583	missense	0			AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.353G>A	1.37:g.2318863C>T	ENSP00000367792:p.Arg118Gln		A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.R118Q	ENST00000378531.3	37	c.353	CCDS40.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.73|12.73	2.024204|2.024204	0.35701|0.35701	2.27E-4|2.27E-4	0.0|0.0	ENSG00000116151|ENSG00000116151	ENST00000449373|ENST00000378531;ENST00000378529;ENST00000378525	.|T;T;T	.|0.59364	.|0.27;0.27;0.27	4.58|4.58	3.66|3.66	0.41972|0.41972	.|.	.|0.089102	.|0.46442	.|D	.|0.000288	T|T	0.61337|0.61337	0.2339|0.2339	L|L	0.60957|0.60957	1.885|1.885	0.26488|0.26488	N|N	0.97499|0.97499	D|D;D;D	0.59767|0.76494	0.986|0.981;0.997;0.999	P|P;P;P	0.46585|0.60286	0.521|0.557;0.727;0.872	T|T	0.51810|0.51810	-0.8658|-0.8658	8|10	0.87932|0.21540	D|T	0|0.41	.|.	6.1502|6.1502	0.20308|0.20308	0.0:0.7861:0.0:0.2139|0.0:0.7861:0.0:0.2139	.|.	69|94;118;118	Q5T088|B4DRE3;Q5T089-2;Q5T089	.|.;.;MORN1_HUMAN	R|Q	69|118;118;94	.|ENSP00000367792:R118Q;ENSP00000367790:R118Q;ENSP00000367786:R94Q	ENSP00000390261:G69R|ENSP00000367786:R94Q	G|R	-|-	1|2	0|0	MORN1|MORN1	2308723|2308723	0.999000|0.999000	0.42202|0.42202	0.870000|0.870000	0.34147|0.34147	0.884000|0.884000	0.51177|0.51177	2.922000|2.922000	0.48860|0.48860	2.073000|2.073000	0.62155|0.62155	0.561000|0.561000	0.74099|0.74099	GGG|CGG	MORN1	-	pfam_MORN,smart_MORN	ENSG00000116151		0.602	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORN1	HGNC	protein_coding	OTTHUMT00000004055.1	-	0.00	55	0	C	NM_024848		2318863	-1	tier1	rs146451358	no_errors	ENST00000378531	ensembl	human	known	74_37	missense	46.67	32	28	SNP	0.829	T
MOS	4342	genome.wustl.edu	37	8	57026410	57026410	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:57026410C>T	ENST00000311923.1	-	1	131	c.132G>A	c.(130-132)ccG>ccA	p.P44P		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	44					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCGGCAGCCGCGGGGCCCGAG	0.677																																					Esophageal Squamous(124;373 2870 4778)												0													18.0	22.0	21.0					8																	57026410		2194	4289	6483	SO:0001819	synonymous_variant	0				CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.132G>A	8.37:g.57026410C>T			Q3KPG9|Q3KPH0	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P44	ENST00000311923.1	37	c.132	CCDS6164.1	8																																																																																			MOS	-	superfamily_Kinase-like_dom	ENSG00000172680		0.677	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOS	HGNC	protein_coding	OTTHUMT00000378174.1	-	0.00	22	0	C	NM_005372		57026410	-1	tier1	-	no_errors	ENST00000311923	ensembl	human	known	74_37	silent	20.69	23	6	SNP	0.019	T
MOSPD1	56180	genome.wustl.edu	37	X	134033048	134033048	+	Intron	DEL	T	T	-	rs374478009		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:134033048delT	ENST00000370783.3	-	3	417				MOSPD1_ENST00000491609.1_Intron|MOSPD1_ENST00000370777.1_Intron|MOSPD1_ENST00000370779.4_Intron	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					AGAAAATATCTTTTTTTTTCA	0.308																																																	0																																										SO:0001627	intron_variant	0			Z83826	CCDS14645.1	Xq26.3	2008-02-05			ENSG00000101928	ENSG00000101928			25235	protein-coding gene	gene with protein product		300674				15533722	Standard	XM_005262446		Approved	dJ473B4	uc004eyb.3	Q9UJG1	OTTHUMG00000035315	ENST00000370783.3:c.230+71A>-	X.37:g.134033048delT			B2RE62|D3DTG5|Q5H9C5|Q5H9C7	RNA	DEL	-	NULL	ENST00000370783.3	37	NULL	CCDS14645.1	X																																																																																			MOSPD1	-	-	ENSG00000101928		0.308	MOSPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MOSPD1	HGNC	protein_coding	OTTHUMT00000085439.1		0.00	22	0	T	NM_019556		134033048	-1	tier1		no_errors	ENST00000462060	ensembl	human	known	74_37	rna	73.68	5	14	DEL	0.000	-
MOSPD1	56180	genome.wustl.edu	37	X	134033227	134033227	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:134033227delT	ENST00000370783.3	-	3	341				MOSPD1_ENST00000491609.1_Intron|MOSPD1_ENST00000370777.1_Intron|MOSPD1_ENST00000370779.4_Intron	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					GCCATTAGTGTTTTTTTTTTT	0.353																																																	0										79,762,2880		0,0,64,15,2,555,203,971,319	70.0	70.0	70.0			2.5	0.8	X		76	131,1554,4799		0,0,77,54,0,865,689,1415,1027	no	intron	MOSPD1	NM_019556.1		0,0,141,69,2,1420,892,2386,1346	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		25.987,22.6015,24.7526			134033227	210,2316,7679	2203	4300	6503	SO:0001627	intron_variant	0			Z83826	CCDS14645.1	Xq26.3	2008-02-05			ENSG00000101928	ENSG00000101928			25235	protein-coding gene	gene with protein product		300674				15533722	Standard	XM_005262446		Approved	dJ473B4	uc004eyb.3	Q9UJG1	OTTHUMG00000035315	ENST00000370783.3:c.155-32A>-	X.37:g.134033227delT			B2RE62|D3DTG5|Q5H9C5|Q5H9C7	RNA	DEL	-	NULL	ENST00000370783.3	37	NULL	CCDS14645.1	X																																																																																			MOSPD1	-	-	ENSG00000101928		0.353	MOSPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MOSPD1	HGNC	protein_coding	OTTHUMT00000085439.1		0.00	20	0	T	NM_019556		134033227	-1	tier1		no_errors	ENST00000462060	ensembl	human	known	74_37	rna	47.37	10	9	DEL	0.001	-
MOXD1	26002	genome.wustl.edu	37	6	132722421	132722421	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:132722421C>T	ENST00000367963.3	-	1	263	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	MOXD1_ENST00000392401.3_Missense_Mutation_p.A49T	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	49	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AGGCGGAAGGCGATCTGGCTG	0.731																																																	0													13.0	11.0	11.0					6																	132722421		2095	4118	6213	SO:0001583	missense	0			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.145G>A	6.37:g.132722421C>T	ENSP00000356940:p.Ala49Thr		Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Missense_Mutation	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.A49T	ENST00000367963.3	37	c.145	CCDS5152.2	6	.	.	.	.	.	.	.	.	.	.	C	6.409	0.443587	0.12164	.	.	ENSG00000079931	ENST00000367963;ENST00000392401	T;T	0.76060	-0.99;-0.99	4.35	4.35	0.52113	DOMON domain (3);	0.157023	0.45867	D	0.000330	T	0.25457	0.0619	N	0.02202	-0.64	0.38091	D	0.936978	B	0.10296	0.003	B	0.06405	0.002	T	0.26189	-1.0110	10	0.07482	T	0.82	-16.7042	10.8606	0.46825	0.0:0.9115:0.0:0.0885	.	49	Q6UVY6	MOXD1_HUMAN	T	49	ENSP00000356940:A49T;ENSP00000376202:A49T	ENSP00000356940:A49T	A	-	1	0	MOXD1	132764114	0.877000	0.30153	0.996000	0.52242	0.550000	0.35303	1.138000	0.31491	2.105000	0.64084	0.561000	0.74099	GCC	MOXD1	-	pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain	ENSG00000079931		0.731	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MOXD1	HGNC	protein_coding	OTTHUMT00000125837.1	-	0.00	10	0	C	NM_015529		132722421	-1	tier1	-	no_errors	ENST00000367963	ensembl	human	known	74_37	missense	61.54	5	8	SNP	0.979	T
MPHOSPH9	10198	genome.wustl.edu	37	12	123706322	123706322	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:123706322delA	ENST00000606320.1	-	5	675	c.469delT	c.(469-471)tctfs	p.S157fs	MPHOSPH9_ENST00000541076.2_Frame_Shift_Del_p.S127fs|MPHOSPH9_ENST00000539639.1_5'UTR|MPHOSPH9_ENST00000302349.5_Frame_Shift_Del_p.S5fs|MPHOSPH9_ENST00000392425.3_Frame_Shift_Del_p.S5fs			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	157						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CTGCTTAGAGAAAAAAAACCC	0.368																																																	0													74.0	71.0	72.0					12																	123706322		2203	4300	6503	SO:0001589	frameshift_variant	0			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.469delT	12.37:g.123706322delA	ENSP00000475489:p.Ser157fs		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Frame_Shift_Del	DEL	superfamily_Prefoldin	p.S5fs	ENST00000606320.1	37	c.13		12																																																																																			MPHOSPH9	-	NULL	ENSG00000051825		0.368	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2		0.00	72	0	A			123706322	-1	tier1		no_errors	ENST00000392425	ensembl	human	known	74_37	frame_shift_del	30.93	67	30	DEL	0.977	-
MPHOSPH9	10198	genome.wustl.edu	37	12	123641367	123641367	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:123641367G>T	ENST00000606320.1	-	24	3745	c.3539C>A	c.(3538-3540)tCt>tAt	p.S1180Y	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.S1150Y|MPHOSPH9_ENST00000302349.5_Intron|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.S1028Y			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1180						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		AAGATTTGCAGAGGTGCGCAA	0.368																																																	0													63.0	58.0	60.0					12																	123641367		2202	4300	6502	SO:0001583	missense	0			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.3539C>A	12.37:g.123641367G>T	ENSP00000475489:p.Ser1180Tyr		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	superfamily_Prefoldin	p.S1028Y	ENST00000606320.1	37	c.3083		12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173984	0.78452	.	.	ENSG00000051825	ENST00000541076;ENST00000545974	T	0.51817	0.69	6.16	5.25	0.73442	.	0.141596	0.48286	D	0.000187	T	0.68146	0.2969	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.72447	-0.4291	10	0.87932	D	0	-15.2379	17.386	0.87416	0.0:0.1247:0.8753:0.0	.	1028	Q99550	MPP9_HUMAN	Y	1028;46	ENSP00000445859:S1028Y	ENSP00000445859:S1028Y	S	-	2	0	MPHOSPH9	122207320	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.789000	0.75110	1.561000	0.49584	0.650000	0.86243	TCT	MPHOSPH9	-	NULL	ENSG00000051825		0.368	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2		0.00	21	0	G			123641367	-1			no_errors	ENST00000392425	ensembl	human	known	74_37	missense	7.14	39	3	SNP	1.000	T
MPP6	51678	genome.wustl.edu	37	7	24708156	24708156	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:24708156G>T	ENST00000222644.5	+	9	1241	c.991G>T	c.(991-993)Gcc>Tcc	p.A331S	MPP6_ENST00000396475.2_Missense_Mutation_p.A331S|MPP6_ENST00000409761.1_Missense_Mutation_p.A219S			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TGAGGAGGTAGCCAAAATGCC	0.368																																																	0													90.0	90.0	90.0					7																	24708156		2203	4300	6503	SO:0001583	missense	0			AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.991G>T	7.37:g.24708156G>T	ENSP00000222644:p.Ala331Ser		B2RAF0	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.A331S	ENST00000222644.5	37	c.991	CCDS5388.1	7	.	.	.	.	.	.	.	.	.	.	G	32	5.124596	0.94429	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475	T;T;T	0.06933	3.47;3.24;3.47	5.46	5.46	0.80206	.	0.000000	0.52532	D	0.000070	T	0.19967	0.0480	M	0.64997	1.995	0.80722	D	1	D	0.55172	0.97	P	0.53006	0.715	T	0.00989	-1.1489	10	0.25751	T	0.34	.	19.3172	0.94220	0.0:0.0:1.0:0.0	.	331	Q9NZW5	MPP6_HUMAN	S	331;219;331	ENSP00000222644:A331S;ENSP00000386262:A219S;ENSP00000379737:A331S	ENSP00000222644:A331S	A	+	1	0	MPP6	24674681	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.869000	0.99810	2.569000	0.86673	0.305000	0.20034	GCC	MPP6	-	NULL	ENSG00000105926		0.368	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP6	HGNC	protein_coding	OTTHUMT00000250272.4	-	0.00	56	0	G			24708156	+1	tier1	-	no_errors	ENST00000222644	ensembl	human	known	74_37	missense	9.52	76	8	SNP	1.000	T
MPP7	143098	genome.wustl.edu	37	10	28348538	28348538	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:28348538delA	ENST00000375732.1	-	14	1558				MPP7_ENST00000337532.5_Intron|MPP7_ENST00000375719.3_Intron|MPP7_ENST00000540098.1_Intron|MPP7_ENST00000445954.2_Intron			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)						establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						ATGTGCTTATAAAAAACAGTC	0.299																																																	0													69.0	67.0	68.0					10																	28348538		2202	4300	6502	SO:0001627	intron_variant	0			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1298+40T>-	10.37:g.28348538delA			B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Frame_Shift_Del	DEL	pfam_L27_C,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,superfamily_P-loop_NTPase,smart_L27,smart_PDZ,smart_SH3_domain,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_SH3_domain	p.Y447fs	ENST00000375732.1	37	c.1339	CCDS7158.1	10																																																																																			MPP7	-	NULL	ENSG00000150054		0.299	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP7	HGNC	protein_coding	OTTHUMT00000047345.1		0.00	51	0	A	NM_173496		28348538	-1	tier1		no_errors	ENST00000496637	ensembl	human	known	74_37	frame_shift_del	23.73	45	14	DEL	0.021	-
MPPED2	744	genome.wustl.edu	37	11	30433064	30433064	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:30433064G>A	ENST00000358117.5	-	6	958	c.836C>T	c.(835-837)cCg>cTg	p.P279L	MPPED2_ENST00000448418.2_Intron|MPPED2_ENST00000524667.1_5'UTR	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	279					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						AGGGTTGGTCGGTTGAAAGCT	0.463																																																	0													133.0	106.0	115.0					11																	30433064		2202	4299	6501	SO:0001583	missense	0			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.836C>T	11.37:g.30433064G>A	ENSP00000350833:p.Pro279Leu		D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	pfam_PEstase_dom	p.P279L	ENST00000358117.5	37	c.836	CCDS7870.1	11	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193381	0.78902	.	.	ENSG00000066382	ENST00000358117	T	0.59638	0.25	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.73621	0.3610	M	0.64630	1.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64976	-0.6280	10	0.17369	T	0.5	-8.8591	20.2825	0.98528	0.0:0.0:1.0:0.0	.	279	Q15777	MPPD2_HUMAN	L	279	ENSP00000350833:P279L	ENSP00000350833:P279L	P	-	2	0	MPPED2	30389640	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.813000	0.99286	2.873000	0.98535	0.561000	0.74099	CCG	MPPED2	-	NULL	ENSG00000066382		0.463	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPED2	HGNC	protein_coding	OTTHUMT00000388155.2	-	0.00	97	0	G	NM_001584		30433064	-1	tier1	-	no_errors	ENST00000358117	ensembl	human	known	74_37	missense	7.23	77	6	SNP	1.000	A
MPRIP	23164	genome.wustl.edu	37	17	17035001	17035001	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:17035001delC	ENST00000341712.4	+	5	490	c.490delC	c.(490-492)cccfs	p.P165fs	MPRIP_ENST00000395811.5_Frame_Shift_Del_p.P165fs|MPRIP_ENST00000395804.3_Frame_Shift_Del_p.P165fs|MPRIP_ENST00000444976.1_Frame_Shift_Del_p.P165fs			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	165	Interaction with F-actin. {ECO:0000250}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GAAAGTGGAGCCCCCCACACC	0.567																																																	0													94.0	94.0	94.0					17																	17035001		2203	4300	6503	SO:0001589	frameshift_variant	0			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.490delC	17.37:g.17035001delC	ENSP00000342379:p.Pro165fs		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T166fs	ENST00000341712.4	37	c.490	CCDS32578.1	17																																																																																			MPRIP	-	NULL	ENSG00000133030		0.567	MPRIP-002	KNOWN	basic|CCDS	protein_coding	MPRIP	HGNC	protein_coding	OTTHUMT00000131587.1		0.00	64	0	C	NM_015134		17035001	+1	tier1		no_errors	ENST00000395811	ensembl	human	known	74_37	frame_shift_del	30.61	34	15	DEL	1.000	-
MRAP	56246	genome.wustl.edu	37	21	33684112	33684112	+	Silent	SNP	G	G	A	rs374356072		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:33684112G>A	ENST00000399784.2	+	5	511	c.324G>A	c.(322-324)gcG>gcA	p.A108A	URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000497833.1_3'UTR|MRAP_ENST00000303645.5_Silent_p.A108A|MRAP_ENST00000339944.4_Intron|MRAP_ENST00000399786.3_Intron	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	108					brown fat cell differentiation (GO:0050873)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			endometrium(1)|large_intestine(2)|lung(3)	6						AGGCTCAGGCGAGCTCAGTGG	0.647																																																	0								G	,,	0,4406		0,0,2203	65.0	55.0	58.0		,324,	-4.4	0.0	21		58	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,coding-synonymous,intron	URB1,MRAP	NM_014825.2,NM_178817.3,NM_206898.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	,108/173,	33684112	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF454915	CCDS13612.1, CCDS13613.1	21q22.1	2005-10-30	2005-02-01	2005-02-07	ENSG00000170262	ENSG00000170262			1304	protein-coding gene	gene with protein product		609196	"""chromosome 21 open reading frame 61"""	C21orf61		12036298, 15654338	Standard	NM_178817		Approved	B27, FALP	uc002ypj.3	Q8TCY5	OTTHUMG00000085309	ENST00000399784.2:c.324G>A	21.37:g.33684112G>A			Q5EBR3|Q8TDB7|Q8WXC1|Q8WXC2	Silent	SNP	NULL	p.A108	ENST00000399784.2	37	c.324	CCDS13613.1	21																																																																																			MRAP	-	NULL	ENSG00000170262		0.647	MRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRAP	HGNC	protein_coding	OTTHUMT00000193092.1	-	0.00	34	0	G	NM_178817		33684112	+1	tier1	-	no_errors	ENST00000303645	ensembl	human	known	74_37	silent	34.38	21	11	SNP	0.000	A
MRGPRF	116535	genome.wustl.edu	37	11	68772931	68772931	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:68772931T>C	ENST00000309099.6	-	3	1229	c.847A>G	c.(847-849)Aac>Gac	p.N283D	MRGPRF_ENST00000441623.1_Missense_Mutation_p.N283D|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	283						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCGCTGCTGTTGATGCAGATG	0.632																																																	0													36.0	27.0	30.0					11																	68772931		2196	4288	6484	SO:0001583	missense	0			AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.847A>G	11.37:g.68772931T>C	ENSP00000309782:p.Asn283Asp		B3KV43|Q8NBK8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.N283D	ENST00000309099.6	37	c.847	CCDS8188.1	11	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547417	0.86022	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.51071	0.72;0.72	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000158	T	0.71787	0.3381	M	0.89163	3.01	0.40998	D	0.984904	D	0.89917	1.0	D	0.91635	0.999	T	0.78270	-0.2269	10	0.87932	D	0	-34.537	11.5619	0.50782	0.0:0.0:0.0:1.0	.	283	Q96AM1	MRGRF_HUMAN	D	283;283;255	ENSP00000403660:N283D;ENSP00000309782:N283D	ENSP00000309782:N283D	N	-	1	0	MRGPRF	68529507	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.261000	0.43276	1.984000	0.57885	0.459000	0.35465	AAC	MRGPRF	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000172935		0.632	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRF	HGNC	protein_coding	OTTHUMT00000396875.1	-	0.00	15	0	T	NM_145015		68772931	-1	tier1	-	no_errors	ENST00000309099	ensembl	human	known	74_37	missense	50.00	6	6	SNP	1.000	C
MRPL15	29088	genome.wustl.edu	37	8	55055256	55055256	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:55055256G>T	ENST00000260102.4	+	4	537	c.463G>T	c.(463-465)Gaa>Taa	p.E155*		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	155					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			AGTTAATATTGAAGTACAGTT	0.373																																																	0													102.0	93.0	96.0					8																	55055256		2203	4300	6503	SO:0001587	stop_gained	0			AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.463G>T	8.37:g.55055256G>T	ENSP00000260102:p.Glu155*		Q96Q54|Q9H0Y1	Nonsense_Mutation	SNP	pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P	p.E155*	ENST00000260102.4	37	c.463	CCDS6158.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.526239	0.96431	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-46.5543	19.4129	0.94683	0.0:0.0:1.0:0.0	.	.	.	.	X	155	.	ENSP00000260102:E155X	E	+	1	0	MRPL15	55217809	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.752000	0.98900	2.652000	0.90054	0.655000	0.94253	GAA	MRPL15	-	pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P	ENSG00000137547		0.373	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL15	HGNC	protein_coding	OTTHUMT00000378254.1		0.00	56	0	G	NM_014175		55055256	+1			no_errors	ENST00000260102	ensembl	human	known	74_37	nonsense	5.00	76	4	SNP	1.000	T
MRPL32	64983	genome.wustl.edu	37	7	42977165	42977165	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:42977165C>T	ENST00000223324.2	+	3	744	c.557C>T	c.(556-558)aCc>aTc	p.T186I	MRPL32_ENST00000496564.1_Intron	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	186					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						TCCTGGTTCACCCAGAATTGA	0.418																																																	0													60.0	56.0	58.0					7																	42977165		2203	4300	6503	SO:0001583	missense	0			AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"""Mitochondrial ribosomal proteins / large subunits"""	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.557C>T	7.37:g.42977165C>T	ENSP00000223324:p.Thr186Ile		Q96Q68|Q9P098	Missense_Mutation	SNP	pfam_Ribosomal_L32p,superfamily_Ribosomal_zn-bd	p.T186I	ENST00000223324.2	37	c.557	CCDS5468.1	7	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896256	0.52121	.	.	ENSG00000106591	ENST00000223324	.	.	.	5.62	4.74	0.60224	.	0.387744	0.33650	N	0.004684	T	0.38054	0.1026	L	0.35341	1.055	0.35732	D	0.818	P	0.35527	0.507	B	0.28465	0.09	T	0.52480	-0.8570	9	0.45353	T	0.12	-18.1904	12.1394	0.53989	0.0:0.863:0.0:0.137	.	186	Q9BYC8	RM32_HUMAN	I	186	.	ENSP00000223324:T186I	T	+	2	0	MRPL32	42943690	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.614000	0.46359	2.644000	0.89710	0.561000	0.74099	ACC	MRPL32	-	NULL	ENSG00000106591		0.418	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL32	HGNC	protein_coding	OTTHUMT00000338669.1	-	0.00	13	0	C	NM_031903		42977165	+1	tier1	-	no_errors	ENST00000223324	ensembl	human	known	74_37	missense	33.33	14	7	SNP	1.000	T
MRS2	57380	genome.wustl.edu	37	6	24415278	24415278	+	Silent	SNP	G	G	T	rs536649835		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:24415278G>T	ENST00000378386.3	+	6	699	c.606G>T	c.(604-606)ggG>ggT	p.G202G	MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000443868.2_Silent_p.G205G|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000378353.1_Silent_p.G202G|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000535061.1_Silent_p.G152G	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	202						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						CCCTTCAGGGGAAACTTAGCA	0.378																																																	0													98.0	92.0	94.0					6																	24415278		2203	4300	6503	SO:0001819	synonymous_variant	0			AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"""MRS2-like, magnesium homeostasis factor (S. cerevisiae)"", ""MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"""	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.606G>T	6.37:g.24415278G>T			A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Silent	SNP	NULL	p.G205	ENST00000378386.3	37	c.615	CCDS4552.1	6																																																																																			MRS2	-	NULL	ENSG00000124532		0.378	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MRS2	HGNC	protein_coding	OTTHUMT00000040002.1	-	0.00	52	0	G			24415278	+1	tier1	-	no_errors	ENST00000443868	ensembl	human	known	74_37	silent	8.33	55	5	SNP	1.000	T
MS4A14	84689	genome.wustl.edu	37	11	60165441	60165441	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:60165441G>T	ENST00000300187.6	+	2	532	c.255G>T	c.(253-255)tgG>tgT	p.W85C	MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000531783.1_Missense_Mutation_p.W85C|MS4A14_ENST00000395005.2_Missense_Mutation_p.W85C	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	85						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ATCCATTCTGGGGAGCACTTA	0.393																																																	0													113.0	114.0	114.0					11																	60165441		2203	4300	6503	SO:0001583	missense	0			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.255G>T	11.37:g.60165441G>T	ENSP00000300187:p.Trp85Cys		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.W85C	ENST00000300187.6	37	c.255	CCDS31569.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.28|14.28	2.487095|2.487095	0.44249|0.44249	.|.	.|.	ENSG00000166928|ENSG00000166928	ENST00000534688|ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783	.|T;T;T;T	.|0.54279	.|3.21;0.58;3.21;3.21	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77391|0.77391	0.4123|0.4123	M|M	0.91510|0.91510	3.215|3.215	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	T|T	0.82008|0.82008	-0.0670|-0.0670	5|10	.|0.87932	.|D	.|0	-5.6893|-5.6893	14.0437|14.0437	0.64693|0.64693	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|85;85	.|Q96JA4-2;Q96JA4	.|.;M4A14_HUMAN	V|C	44|85	.|ENSP00000300187:W85C;ENSP00000378453:W85C;ENSP00000435764:W85C;ENSP00000433761:W85C	.|ENSP00000300187:W85C	G|W	+|+	2|3	0|0	MS4A14|MS4A14	59922017|59922017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.440000|0.440000	0.31957|0.31957	4.151000|4.151000	0.58105|0.58105	2.768000|2.768000	0.95171|0.95171	0.655000|0.655000	0.94253|0.94253	GGG|TGG	MS4A14	-	pfam_CD20-like	ENSG00000166928		0.393	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2		0.00	65	0	G			60165441	+1			no_errors	ENST00000300187	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
MSH4	4438	genome.wustl.edu	37	1	76288248	76288248	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:76288248delT	ENST00000263187.3	+	7	1248	c.1144delT	c.(1144-1146)tttfs	p.F383fs		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	383					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGAGGAACTATTTTTTGGACT	0.274								Mismatch excision repair (MMR)																																									0													56.0	59.0	58.0					1																	76288248		2203	4293	6496	SO:0001589	frameshift_variant	0			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1144delT	1.37:g.76288248delT	ENSP00000263187:p.Phe383fs		Q5T4U6|Q8NEB3|Q9UNP8	Frame_Shift_Del	DEL	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.F383fs	ENST00000263187.3	37	c.1144	CCDS670.1	1																																																																																			MSH4	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core	ENSG00000057468		0.274	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1		0.00	29	0	T	NM_002440		76288248	+1	tier1		no_errors	ENST00000263187	ensembl	human	known	74_37	frame_shift_del	25.64	29	10	DEL	1.000	-
MSH6	2956	genome.wustl.edu	37	2	48025912	48025912	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:48025912G>A	ENST00000234420.5	+	4	942	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	MSH6_ENST00000540021.1_Missense_Mutation_p.E134K|MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	264					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTGATGTGGAATTTAAGCC	0.468			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											160.0	163.0	162.0					2																	48025912		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.790G>A	2.37:g.48025912G>A	ENSP00000234420:p.Glu264Lys		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom	p.E264K	ENST00000234420.5	37	c.790	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.150957	0.94645	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021	D;D	0.86030	-1.94;-2.06	4.48	4.48	0.54585	.	0.053373	0.64402	D	0.000001	D	0.90837	0.7122	M	0.64997	1.995	0.80722	D	1	D;P;D	0.76494	0.999;0.953;0.993	D;P;P	0.80764	0.994;0.551;0.84	D	0.90653	0.4584	10	0.44086	T	0.13	-18.7341	17.345	0.87308	0.0:0.0:1.0:0.0	.	134;264;264	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	K	264;262;134	ENSP00000234420:E264K;ENSP00000446475:E134K	ENSP00000234420:E264K	E	+	1	0	MSH6	47879416	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.187000	0.94912	2.335000	0.79485	0.561000	0.74099	GAA	MSH6	-	pirsf_DNA_mismatch_repair_Msh6	ENSG00000116062		0.468	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4	-	0.00	21	0	G	NM_000179		48025912	+1	tier1	-	no_errors	ENST00000234420	ensembl	human	known	74_37	missense	30.43	16	7	SNP	1.000	A
MSMO1	6307	genome.wustl.edu	37	4	166259012	166259012	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:166259012G>T	ENST00000261507.6	+	3	500	c.327G>T	c.(325-327)caG>caT	p.Q109H	MSMO1_ENST00000504317.1_Missense_Mutation_p.Q109H|MSMO1_ENST00000393766.2_5'UTR	NM_006745.4	NP_006736.1	Q15800	MSMO1_HUMAN	methylsterol monooxygenase 1	109					cholesterol biosynthetic process (GO:0006695)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-4 methylsterol oxidase activity (GO:0000254)|iron ion binding (GO:0005506)										TCTGTATCCAGCTGCCTTTGA	0.338																																																	0													115.0	115.0	115.0					4																	166259012		2203	4300	6503	SO:0001583	missense	0			U93162	CCDS3809.1, CCDS43280.1	4q32-q34	2013-03-04	2011-09-01	2011-09-01	ENSG00000052802	ENSG00000052802	1.14.13.72	"""Fatty acid hydroxylase domain containing"""	10545	protein-coding gene	gene with protein product		607545	"""sterol-C4-methyl oxidase-like"""	SC4MOL		8663358	Standard	NM_006745		Approved	DESP4, ERG25	uc003ire.3	Q15800	OTTHUMG00000161126	ENST00000261507.6:c.327G>T	4.37:g.166259012G>T	ENSP00000261507:p.Gln109His		A8K8Q3|A8MYF6|D3DP32|Q32Q24	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase	p.Q109H	ENST00000261507.6	37	c.327	CCDS3809.1	4	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319902	0.60634	.	.	ENSG00000052802	ENST00000261507;ENST00000507013;ENST00000504317	T;T;T	0.42513	0.97;0.97;0.97	5.75	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	M	0.85373	2.75	0.80722	D	1	B;D	0.71674	0.12;0.998	B;D	0.79784	0.043;0.993	T	0.69379	-0.5161	10	0.44086	T	0.13	-20.9408	12.7012	0.57034	0.1365:0.0:0.8635:0.0	.	109;109	D6R952;Q15800	.;MSMO1_HUMAN	H	109	ENSP00000261507:Q109H;ENSP00000425241:Q109H;ENSP00000423633:Q109H	ENSP00000261507:Q109H	Q	+	3	2	SC4MOL	166478462	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.432000	0.52824	1.444000	0.47605	0.655000	0.94253	CAG	MSMO1	-	NULL	ENSG00000052802		0.338	MSMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSMO1	HGNC	protein_coding	OTTHUMT00000363880.1	-	0.00	57	0	G	NM_006745		166259012	+1	tier1	-	no_errors	ENST00000261507	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
MSN	4478	genome.wustl.edu	37	X	64955272	64955272	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:64955272G>T	ENST00000360270.5	+	8	1111	c.939G>T	c.(937-939)aaG>aaT	p.K313N		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	313					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GGGAGGAGAAGCACCAGAAGC	0.582			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	0													51.0	32.0	38.0					X																	64955272		2203	4299	6502	SO:0001583	missense	0			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.939G>T	X.37:g.64955272G>T	ENSP00000353408:p.Lys313Asn			Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain	p.K313N	ENST00000360270.5	37	c.939	CCDS14382.1	X	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169598	0.78452	.	.	ENSG00000147065	ENST00000360270	T	0.76839	-1.05	5.45	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.84424	0.5469	M	0.89840	3.065	0.80722	D	1	P	0.49862	0.929	P	0.51135	0.66	D	0.85839	0.1396	10	0.87932	D	0	.	9.1984	0.37242	0.2475:0.0:0.7525:0.0	.	313	P26038	MOES_HUMAN	N	313	ENSP00000353408:K313N	ENSP00000353408:K313N	K	+	3	2	MSN	64871997	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.010000	0.40913	1.075000	0.40932	-0.199000	0.12753	AAG	MSN	-	pirsf_ERM	ENSG00000147065		0.582	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1	-	0.00	42	0	G	NM_002444		64955272	+1	tier1	-	no_errors	ENST00000360270	ensembl	human	known	74_37	missense	73.53	9	25	SNP	1.000	T
MSR1	4481	genome.wustl.edu	37	8	16012654	16012654	+	Splice_Site	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:16012654C>A	ENST00000262101.5	-	6	939		c.e6-1		MSR1_ENST00000381998.4_Splice_Site|MSR1_ENST00000445506.2_Splice_Site|MSR1_ENST00000350896.3_Splice_Site|MSR1_ENST00000536385.1_Splice_Site|MSR1_ENST00000355282.2_Splice_Site			P21757	MSRE_HUMAN	macrophage scavenger receptor 1						cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCAGGAGGACCTTTAAAAAAA	0.403																																																	0			GRCh37	CS061306	MSR1	S							40.0	41.0	40.0					8																	16012654		2203	4298	6501	SO:0001630	splice_region_variant	0			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.818-1G>T	8.37:g.16012654C>A			D3DSP3|O60505|P21759|Q45F10	Splice_Site	SNP	-	e5-1	ENST00000262101.5	37	c.818-1	CCDS5995.1	8	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665717	0.67700	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000522672;ENST00000381998;ENST00000536385	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3305	0.83010	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MSR1	16057025	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.935000	0.56560	2.627000	0.88993	0.650000	0.86243	.	MSR1	-	-	ENSG00000038945		0.403	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	HGNC	protein_coding	OTTHUMT00000211627.2	-	0.00	41	0	C		Intron	16012654	-1	tier1	-	no_errors	ENST00000262101	ensembl	human	known	74_37	splice_site	30.56	50	22	SNP	1.000	A
RPL3L	6123	genome.wustl.edu	37	16	1991122	1991122	+	IGR	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:1991122C>A	ENST00000268661.7	-	0	2182				MSRB1_ENST00000361871.3_Intron|MSRB1_ENST00000399753.2_Missense_Mutation_p.G114W|MSRB1_ENST00000489198.1_5'UTR|MSRB1_ENST00000564908.1_Missense_Mutation_p.R84M	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TGGCAGCTCCCTGGCAGAGGC	0.617																																																	0																																										SO:0001628	intergenic_variant	0			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685		16.37:g.1991122C>A				Missense_Mutation	SNP	pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like	p.G114W	ENST00000268661.7	37	c.340	CCDS10450.1	16	.	.	.	.	.	.	.	.	.	.	C	9.572	1.121224	0.20877	.	.	ENSG00000198736	ENST00000399753	D	0.83335	-1.71	2.97	-1.37	0.09056	.	.	.	.	.	T	0.77731	0.4174	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.68884	-0.5291	6	0.87932	D	0	.	4.4579	0.11652	0.42:0.4552:0.0:0.1248	.	.	.	.	W	114	ENSP00000382657:G114W	ENSP00000382657:G114W	G	-	1	0	SEPX1	1931123	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-0.520000	0.06252	-0.248000	0.09583	-0.266000	0.10368	GGG	MSRB1	-	NULL	ENSG00000198736		0.617	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSRB1	HGNC	protein_coding	OTTHUMT00000250582.2	-	0.00	38	0	C	NM_005061		1991122	-1	tier1	-	no_errors	ENST00000399753	ensembl	human	putative	74_37	missense	36.11	23	13	SNP	0.000	A
RNF123	63891	genome.wustl.edu	37	3	49724603	49724603	+	5'Flank	SNP	C	C	T	rs562538123	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:49724603C>T	ENST00000327697.6	+	0	0				RNF123_ENST00000432042.1_5'Flank|MST1_ENST00000545762.1_Silent_p.A143A|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000449682.2_Missense_Mutation_p.G196S|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.G121S	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GATTTGATGCCGCAGCTCTGG	0.622													C|||	3	0.000599042	0.0	0.0	5008	,	,		17794	0.0		0.0	False		,,,				2504	0.0031																0													29.0	32.0	31.0					3																	49724603		2200	4300	6500	SO:0001631	upstream_gene_variant	0			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724603C>T	Exception_encountered		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.G196S	ENST00000327697.6	37	c.586	CCDS33758.1	3	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026755	0.75390	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	T;T	0.61274	0.12;0.12	5.9	5.0	0.66597	Kringle (4);Kringle-like fold (1);	0.000000	0.43260	D	0.000593	T	0.59418	0.2192	L	0.29908	0.895	0.80722	D	1	D;P;P	0.69078	0.997;0.697;0.836	P;B;B	0.60682	0.878;0.274;0.261	T	0.57665	-0.7772	10	0.34782	T	0.22	.	11.2587	0.49069	0.1278:0.8053:0.0:0.0669	.	182;182;196	B7Z538;P26927;G3XAK1	.;HGFL_HUMAN;.	S	196;121	ENSP00000414287:G196S;ENSP00000373234:G121S	ENSP00000373234:G121S	G	-	1	0	MST1	49699607	0.926000	0.31397	0.997000	0.53966	0.896000	0.52359	1.963000	0.40452	1.434000	0.47414	0.591000	0.81541	GGC	MST1	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000173531		0.622	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346475.2	-	0.00	68	0	C	NM_022064		49724603	-1	tier1	-	no_errors	ENST00000449682	ensembl	human	known	74_37	missense	38.64	27	17	SNP	1.000	T
MSX1	4487	genome.wustl.edu	37	4	4864475	4864475	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:4864475C>T	ENST00000382723.4	+	2	751	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	173					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAAGACGAACCGTAAGCCGCG	0.622																																																	0													61.0	76.0	71.0					4																	4864475		2199	4296	6495	SO:0001583	missense	0			M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.517C>T	4.37:g.4864475C>T	ENSP00000372170:p.Arg173Cys		A0SZU5|A8K3M1|Q96NY4	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.R173C	ENST00000382723.4	37	c.517	CCDS3378.2	4	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020980	0.75275	.	.	ENSG00000163132	ENST00000382723	D	0.97352	-4.35	4.96	3.98	0.46160	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98807	0.9598	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98701	1.0700	10	0.87932	D	0	-10.8058	12.4026	0.55422	0.2819:0.7181:0.0:0.0	.	167	P28360	MSX1_HUMAN	C	173	ENSP00000372170:R173C	ENSP00000372170:R173C	R	+	1	0	MSX1	4915376	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.048000	0.30379	2.456000	0.83038	0.462000	0.41574	CGT	MSX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000163132		0.622	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSX1	HGNC	protein_coding	OTTHUMT00000206700.3	-	0.00	44	0	C			4864475	+1	tier1	-	no_errors	ENST00000382723	ensembl	human	known	74_37	missense	56.41	17	22	SNP	1.000	T
MTERF1	7978	genome.wustl.edu	37	7	91509449	91509449	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:91509449delA	ENST00000351870.3	-	2	64				MTERF_ENST00000419292.1_Intron|MTERF_ENST00000406735.2_Intron|MTERF_ENST00000481516.1_5'UTR	NM_006980.3	NP_008911.1	Q99551	MTEF1_HUMAN							DNA geometric change (GO:0032392)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of mitochondrial transcription (GO:0006393)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			ACACACACACAAAAAAAAGGC	0.418																																																	0													49.0	43.0	46.0					7																	91509449		1327	2309	3636	SO:0001627	intron_variant	0																														ENST00000351870.3:c.30-22T>-	7.37:g.91509449delA			A4D1E3|Q32NF8|Q53H51|Q9BVR7	RNA	DEL	-	NULL	ENST00000351870.3	37	NULL	CCDS5621.1	7																																																																																			MTERF	-	-	ENSG00000127989		0.418	MTERF-003	KNOWN	basic|CCDS	protein_coding	MTERF	HGNC	protein_coding	OTTHUMT00000342896.1		0.00	19	0	A			91509449	-1	tier1		no_errors	ENST00000481516	ensembl	human	known	74_37	rna	22.22	14	4	DEL	0.003	-
MTHFD1L	25902	genome.wustl.edu	37	6	151331085	151331085	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:151331085C>T	ENST00000367321.3	+	21	2530	c.2256C>T	c.(2254-2256)ggC>ggT	p.G752G	MTHFD1L_ENST00000478643.1_3'UTR	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	752	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGCATGGAGGCGGGCCAAGTG	0.458																																																	0													79.0	76.0	77.0					6																	151331085		2203	4300	6503	SO:0001819	synonymous_variant	0			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2256C>T	6.37:g.151331085C>T			Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Silent	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase	p.G752	ENST00000367321.3	37	c.2256	CCDS5228.1	6																																																																																			MTHFD1L	-	pfam_Formate_THF_ligase,superfamily_P-loop_NTPase	ENSG00000120254		0.458	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1L	HGNC	protein_coding	OTTHUMT00000042699.1	-	0.00	18	0	C	NM_015440		151331085	+1	tier1	-	no_errors	ENST00000367321	ensembl	human	known	74_37	silent	61.90	8	13	SNP	0.093	T
MTHFD2L	441024	genome.wustl.edu	37	4	75041109	75041109	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:75041109T>C	ENST00000395759.2	+	3	467	c.440T>C	c.(439-441)tTa>tCa	p.L147S	MTHFD2L_ENST00000331145.6_Missense_Mutation_p.L89S|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.L89S|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.L12S	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	147					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TTAGTTCAGTTACCACTACCA	0.353																																																	0													136.0	134.0	135.0					4																	75041109		2203	4300	6503	SO:0001583	missense	0			BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.440T>C	4.37:g.75041109T>C	ENSP00000379108:p.Leu147Ser		Q6P079|Q8N560	Missense_Mutation	SNP	pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.L147S	ENST00000395759.2	37	c.440	CCDS47075.1	4	.	.	.	.	.	.	.	.	.	.	T	21.4	4.144497	0.77888	.	.	ENSG00000163738	ENST00000433372;ENST00000395759;ENST00000331145;ENST00000359107;ENST00000325278	T;T;T;T;T	0.38887	1.11;1.47;1.11;1.16;1.56	5.36	5.36	0.76844	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.73575	0.3604	H	0.95816	3.725	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.945	T	0.81822	-0.0756	10	0.87932	D	0	-19.034	13.3615	0.60659	0.0:0.0:0.0:1.0	.	147;89	Q9H903;Q9H903-3	MTD2L_HUMAN;.	S	12;147;89;89;89	ENSP00000405692:L12S;ENSP00000379108:L147S;ENSP00000330982:L89S;ENSP00000352012:L89S;ENSP00000321984:L89S	ENSP00000321984:L89S	L	+	2	0	MTHFD2L	75259973	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.298000	0.78815	2.262000	0.75019	0.523000	0.50628	TTA	MTHFD2L	-	pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	ENSG00000163738		0.353	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2L	HGNC	protein_coding		-	0.00	85	0	T	NM_001004346		75041109	+1	tier1	-	no_errors	ENST00000395759	ensembl	human	known	74_37	missense	10.71	75	9	SNP	1.000	C
MTMR2	8898	genome.wustl.edu	37	11	95568534	95568535	+	Frame_Shift_Del	DEL	TC	TC	-	rs369804894		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:95568534_95568535delTC	ENST00000346299.5	-	15	2191_2192	c.1851_1852delGA	c.(1849-1854)gagattfs	p.EI617fs	MTMR2_ENST00000409459.1_Frame_Shift_Del_p.EI545fs|MTMR2_ENST00000393223.3_Frame_Shift_Del_p.EI545fs|MTMR2_ENST00000352297.7_Frame_Shift_Del_p.EI545fs	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	617					cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGGTTAGAAATCTCTCTCTGTA	0.436																																																	0																																										SO:0001589	frameshift_variant	0			U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1851_1852delGA	11.37:g.95568540_95568541delTC	ENSP00000345752:p.Glu617fs		A6NN98|Q9UPS9	Frame_Shift_Del	DEL	pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.E617fs	ENST00000346299.5	37	c.1852_1851	CCDS8305.1	11																																																																																			MTMR2	-	NULL	ENSG00000087053		0.436	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR2	HGNC	protein_coding	OTTHUMT00000332620.1		0.00	37	0	TC	NM_016156		95568535	-1	tier1		no_errors	ENST00000346299	ensembl	human	known	74_37	frame_shift_del	20.69	46	12	DEL	1.000:0.986	-
MTMR3	8897	genome.wustl.edu	37	22	30415781	30415781	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:30415781C>T	ENST00000401950.2	+	17	2475	c.2133C>T	c.(2131-2133)ggC>ggT	p.G711G	MTMR3_ENST00000333027.3_Silent_p.G711G|MTMR3_ENST00000406629.1_Silent_p.G711G|MTMR3_ENST00000323630.5_Silent_p.G575G|MTMR3_ENST00000351488.3_Silent_p.G711G|CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	711					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACAGGGCAGGCATTGAGATAC	0.547																																																	0													54.0	61.0	59.0					22																	30415781		2203	4300	6503	SO:0001819	synonymous_variant	0			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.2133C>T	22.37:g.30415781C>T			A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Silent	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.G711	ENST00000401950.2	37	c.2133	CCDS13870.1	22																																																																																			MTMR3	-	NULL	ENSG00000100330		0.547	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	-	0.00	17	0	C	NM_021090		30415781	+1	tier1	-	no_errors	ENST00000401950	ensembl	human	known	74_37	silent	37.50	15	9	SNP	0.000	T
MTMR4	9110	genome.wustl.edu	37	17	56573108	56573108	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:56573108G>T	ENST00000323456.5	-	16	2519	c.2395C>A	c.(2395-2397)Cta>Ata	p.L799I	MTMR4_ENST00000579925.1_Missense_Mutation_p.L742I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	799					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCACACCTAGCATGGAGTCT	0.522																																																	0													121.0	117.0	118.0					17																	56573108		2203	4300	6503	SO:0001583	missense	0			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.2395C>A	17.37:g.56573108G>T	ENSP00000325285:p.Leu799Ile		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase	p.L799I	ENST00000323456.5	37	c.2395	CCDS11608.1	17	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.424914	0.01126	.	.	ENSG00000108389	ENST00000323456	D	0.92965	-3.14	4.81	1.46	0.22682	.	3.812990	0.00610	N	0.000405	D	0.85771	0.5774	N	0.19112	0.55	0.09310	N	1	B	0.24721	0.11	B	0.22880	0.042	T	0.73379	-0.4001	10	0.34782	T	0.22	.	6.1535	0.20324	0.091:0.0:0.5593:0.3496	.	799	Q9NYA4	MTMR4_HUMAN	I	799	ENSP00000325285:L799I	ENSP00000325285:L799I	L	-	1	2	MTMR4	53928107	0.160000	0.22878	0.001000	0.08648	0.004000	0.04260	2.199000	0.42715	0.230000	0.21059	-0.274000	0.10170	CTA	MTMR4	-	NULL	ENSG00000108389		0.522	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1		0.00	49	0	G	NM_004687		56573108	-1			no_errors	ENST00000323456	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.006	T
MTMR6	9107	genome.wustl.edu	37	13	25831386	25831386	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:25831386G>T	ENST00000381801.5	-	9	1804	c.1043C>A	c.(1042-1044)tCc>tAc	p.S348Y	MTMR6_ENST00000482345.1_5'Flank|MTMR6_ENST00000540661.1_Missense_Mutation_p.S348Y	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	348	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		AGAACCCAGGGAACAAACCTG	0.383																																																	0													103.0	93.0	96.0					13																	25831386		2203	4300	6503	SO:0001583	missense	0			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1043C>A	13.37:g.25831386G>T	ENSP00000371221:p.Ser348Tyr		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat	p.S348Y	ENST00000381801.5	37	c.1043	CCDS9313.1	13	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752669	0.89753	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.96200	-3.94;-3.94	5.49	5.49	0.81192	Myotubularin phosphatase domain (1);	0.050500	0.85682	D	0.000000	D	0.98713	0.9568	H	0.97682	4.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.979	D	0.99544	1.0964	10	0.87932	D	0	.	19.3809	0.94532	0.0:0.0:1.0:0.0	.	348;348	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	Y	348	ENSP00000443161:S348Y;ENSP00000371221:S348Y	ENSP00000371221:S348Y	S	-	2	0	MTMR6	24729386	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.807000	0.99171	2.573000	0.86826	0.650000	0.86243	TCC	MTMR6	-	smart_Tyr_Pase_cat	ENSG00000139505		0.383	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR6	HGNC	protein_coding	OTTHUMT00000044225.1	-	0.00	36	0	G	NM_004685		25831386	-1	tier1	-	no_errors	ENST00000381801	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
MTMR9	66036	genome.wustl.edu	37	8	11172559	11172560	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:11172559_11172560delAG	ENST00000221086.3	+	7	1572_1573	c.1099_1100delAG	c.(1099-1101)agafs	p.R367fs	MTMR9_ENST00000526292.1_Frame_Shift_Del_p.R282fs|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	367	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CCTGATTGAAAGAGAGTGGCTG	0.47																																																	0																																										SO:0001589	frameshift_variant	0			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1099_1100delAG	8.37:g.11172563_11172564delAG	ENSP00000221086:p.Arg367fs		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Frame_Shift_Del	DEL	pfam_Myotubularin-like_Pase_dom	p.E368fs	ENST00000221086.3	37	c.1099_1100	CCDS5979.1	8																																																																																			MTMR9	-	NULL	ENSG00000104643		0.470	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR9	HGNC	protein_coding	OTTHUMT00000207307.2		0.00	81	0	AG	NM_015458		11172560	+1	tier1		no_errors	ENST00000221086	ensembl	human	known	74_37	frame_shift_del	23.66	71	22	DEL	1.000:1.000	-
MTNR1B	4544	genome.wustl.edu	37	11	92715303	92715303	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:92715303C>T	ENST00000257068.2	+	2	920	c.914C>T	c.(913-915)gCc>gTc	p.A305V		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	305					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TGCCTGAATGCCATTGTCTAT	0.512																																																	0													197.0	208.0	204.0					11																	92715303		2201	4298	6499	SO:0001583	missense	0			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.914C>T	11.37:g.92715303C>T	ENSP00000257068:p.Ala305Val			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt	p.A305V	ENST00000257068.2	37	c.914	CCDS8290.1	11	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241075	0.79912	.	.	ENSG00000134640	ENST00000257068	T	0.71817	-0.6	4.0	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.064020	0.64402	D	0.000007	D	0.85682	0.5753	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.89060	0.3462	10	0.87932	D	0	-19.7473	16.674	0.85274	0.0:1.0:0.0:0.0	.	305	P49286	MTR1B_HUMAN	V	305	ENSP00000257068:A305V	ENSP00000257068:A305V	A	+	2	0	MTNR1B	92354951	1.000000	0.71417	0.086000	0.20670	0.775000	0.43874	7.021000	0.76425	2.226000	0.72624	0.491000	0.48974	GCC	MTNR1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000134640		0.512	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTNR1B	HGNC	protein_coding	OTTHUMT00000394323.1	-	0.00	53	0	C			92715303	+1	tier1	-	no_errors	ENST00000257068	ensembl	human	known	74_37	missense	36.00	32	18	SNP	1.000	T
MTOR	2475	genome.wustl.edu	37	1	11204705	11204705	+	Splice_Site	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:11204705C>A	ENST00000361445.4	-	34	4948	c.4872G>T	c.(4870-4872)caG>caT	p.Q1624H	MTOR-AS1_ENST00000445982.1_RNA|MTOR-AS1_ENST00000420480.1_RNA|MTOR_ENST00000495435.1_5'UTR	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1624	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CCAAGCTCACCTGCAGTCTCT	0.572																																																	0													85.0	79.0	81.0					1																	11204705		2203	4300	6503	SO:0001630	splice_region_variant	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4872+1G>T	1.37:g.11204705C>A			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q1624H	ENST00000361445.4	37	c.4872	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540781	0.85917	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.71461	-0.57	5.67	5.67	0.87782	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85957	0.5818	M	0.82323	2.585	0.80722	D	1	D	0.62365	0.991	D	0.75484	0.986	D	0.85869	0.1415	9	.	.	.	-6.8703	19.7824	0.96422	0.0:1.0:0.0:0.0	.	1624	P42345	MTOR_HUMAN	H	1624	ENSP00000354558:Q1624H	.	Q	-	3	2	MTOR	11127292	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.365000	0.79537	2.677000	0.91161	0.561000	0.74099	CAG	MTOR	-	pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT	ENSG00000198793		0.572	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	-	0.00	46	0	C	NM_004958	Missense_Mutation	11204705	-1	tier1	-	no_errors	ENST00000361445	ensembl	human	known	74_37	missense	45.83	13	11	SNP	1.000	A
MTR	4548	genome.wustl.edu	37	1	237061140	237061140	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:237061140delT	ENST00000366577.5	+	0	4388				MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ACAGGCGCTGTTTTTTTGGGA	0.512																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.*196T>-	1.37:g.237061140delT			A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	RNA	DEL	-	NULL	ENST00000366577.5	37	NULL	CCDS1614.1	1																																																																																			MTR	-	-	ENSG00000116984		0.512	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2		0.00	17	0	T	NM_000254		237061140	+1	tier1		no_errors	ENST00000470570	ensembl	human	known	74_37	rna	16.67	15	3	DEL	0.000	-
MTRF1	9617	genome.wustl.edu	37	13	41826691	41826691	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:41826691delA	ENST00000379480.4	-	5	798				MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000430347.2_Intron|MTRF1_ENST00000379477.1_Intron	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1						regulation of translational termination (GO:0006449)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CAAAAGTTTCAAAAAAAAATG	0.358																																																	0																																										SO:0001627	intron_variant	0			AF072934	CCDS9378.1	13q14.1-q14.3	2008-07-18			ENSG00000120662	ENSG00000120662			7469	protein-coding gene	gene with protein product	"""mitochontrial peptide chain release factor 1"""	604601				9838146, 10773675	Standard	NM_004294		Approved	RF1, MTTRF1, MGC47721	uc001uxy.3	O75570	OTTHUMG00000016790	ENST00000379480.4:c.697+89T>-	13.37:g.41826691delA			B4DG01|Q5T6Y5|Q8IUQ6	RNA	DEL	-	NULL	ENST00000379480.4	37	NULL	CCDS9378.1	13																																																																																			MTRF1	-	-	ENSG00000120662		0.358	MTRF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MTRF1	HGNC	protein_coding	OTTHUMT00000044666.3		0.00	17	0	A	NM_004294		41826691	-1	tier1		no_errors	ENST00000239852	ensembl	human	known	74_37	rna	76.00	6	19	DEL	0.000	-
MTRF1L	54516	genome.wustl.edu	37	6	153311100	153311100	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:153311100T>C	ENST00000367233.5	-	7	1072	c.1073A>G	c.(1072-1074)gAa>gGa	p.E358G	MTRF1L_ENST00000367231.5_3'UTR|MTRF1L_ENST00000464135.1_5'UTR|RP1-101K10.6_ENST00000442269.1_RNA|MTRF1L_ENST00000367230.1_3'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	358						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		CTGTACAAGTTCATCCAGTAG	0.333																																																	0													81.0	84.0	83.0					6																	153311100		2203	4300	6503	SO:0001583	missense	0			BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.1073A>G	6.37:g.153311100T>C	ENSP00000356202:p.Glu358Gly		B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Missense_Mutation	SNP	pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF	p.E358G	ENST00000367233.5	37	c.1073	CCDS5243.1	6	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541217	0.85917	.	.	ENSG00000112031	ENST00000367233;ENST00000414771	T;T	0.12039	2.72;2.72	5.78	5.78	0.91487	.	0.257411	0.43919	D	0.000507	T	0.14570	0.0352	L	0.34521	1.04	0.80722	D	1	D;D	0.63880	0.993;0.974	P;P	0.56343	0.796;0.548	T	0.01202	-1.1420	10	0.87932	D	0	-19.5534	16.1261	0.81397	0.0:0.0:0.0:1.0	.	322;358	B4DMX1;Q9UGC7	.;RF1ML_HUMAN	G	358;209	ENSP00000356202:E358G;ENSP00000414383:E209G	ENSP00000356202:E358G	E	-	2	0	MTRF1L	153352793	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.781000	0.68964	2.206000	0.71126	0.533000	0.62120	GAA	MTRF1L	-	NULL	ENSG00000112031		0.333	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTRF1L	HGNC	protein_coding	OTTHUMT00000042764.1	-	0.00	66	0	T	NM_019041		153311100	-1	tier1	-	no_errors	ENST00000367233	ensembl	human	known	74_37	missense	33.33	46	23	SNP	1.000	C
MTSS1	9788	genome.wustl.edu	37	8	125597329	125597329	+	Splice_Site	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:125597329delT	ENST00000518547.1	-	6	932	c.459delA	c.(457-459)aaa>aa	p.K153fs	MTSS1_ENST00000378017.3_Splice_Site_p.K153fs|MTSS1_ENST00000325064.5_Splice_Site_p.K153fs|MTSS1_ENST00000354184.4_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	153	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGGAGTTACCTTTTTTTGCTT	0.373																																					Esophageal Squamous(160;622 1893 3862 8546 12509)												0													263.0	239.0	247.0					8																	125597329		2203	4300	6503	SO:0001630	splice_region_variant	0			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.460+1A>-	8.37:g.125597329delT			J3KNK6|Q8TCA2|Q96RX2	Frame_Shift_Del	DEL	pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom	p.R155fs	ENST00000518547.1	37	c.459	CCDS6353.1	8																																																																																			MTSS1	-	pfam_IRSp53/MIM_homology_IMD	ENSG00000170873		0.373	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1	HGNC	protein_coding	OTTHUMT00000109625.3		0.00	54	0	T	NM_014751	Frame_Shift_Del	125597329	-1	tier1		no_errors	ENST00000518547	ensembl	human	known	74_37	frame_shift_del	21.43	88	24	DEL	1.000	-
MTUS1	57509	genome.wustl.edu	37	8	17504627	17504627	+	Intron	DEL	A	A	-	rs565891321|rs538935142	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:17504627delA	ENST00000262102.6	-	14	3726				MTUS1_ENST00000297488.6_Intron|MTUS1_ENST00000544260.1_Intron|MTUS1_ENST00000518713.1_5'Flank|MTUS1_ENST00000400046.1_Intron|MTUS1_ENST00000381861.3_Intron|MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381869.3_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1						cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		ATACAATATTAAAAAAAAAAC	0.333																																																	0													47.0	45.0	45.0					8																	17504627		1805	4071	5876	SO:0001627	intron_variant	0			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.3502-39T>-	8.37:g.17504627delA			A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	RNA	DEL	-	NULL	ENST00000262102.6	37	NULL	CCDS43717.1	8																																																																																			MTUS1	-	-	ENSG00000129422		0.333	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	HGNC	protein_coding	OTTHUMT00000375247.1		0.00	24	0	A	XM_372031		17504627	-1	tier1		no_errors	ENST00000518889	ensembl	human	putative	74_37	rna	40.74	16	11	DEL	0.000	-
MTX1	4580	genome.wustl.edu	37	1	155180357	155180357	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:155180357G>A	ENST00000368376.3	+	3	723	c.617G>A	c.(616-618)cGg>cAg	p.R206Q	RP11-263K19.6_ENST00000455788.1_RNA|THBS3_ENST00000457183.2_5'Flank|THBS3_ENST00000486260.1_5'Flank|MTX1_ENST00000316721.4_Missense_Mutation_p.R206Q|MTX1_ENST00000609421.1_Missense_Mutation_p.R57Q|THBS3_ENST00000368378.3_5'Flank|THBS3_ENST00000541990.1_5'Flank	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	206					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)		p.R206Q(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTGCCCTTCGGACCAGTCAT	0.493																																																	1	Substitution - Missense(1)	lung(1)											209.0	197.0	201.0					1																	155180357		2203	4300	6503	SO:0001583	missense	0				CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708	ENST00000368376.3:c.617G>A	1.37:g.155180357G>A	ENSP00000357360:p.Arg206Gln		B1AVR9|B1AVS0|B2R9P4|Q9BUU3	Missense_Mutation	SNP	pfam_Sam37/metaxin,superfamily_Glutathione-S-Trfase_C-like	p.R206Q	ENST00000368376.3	37	c.617	CCDS1100.1	1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580483	0.65992	.	.	ENSG00000173171	ENST00000368376;ENST00000316721	T;T	0.34667	1.43;1.35	5.8	1.91	0.25777	.	0.215245	0.42548	N	0.000681	T	0.24470	0.0593	L	0.34521	1.04	0.35083	D	0.763603	D;D	0.76494	0.996;0.999	P;P	0.60886	0.75;0.88	T	0.05566	-1.0877	10	0.39692	T	0.17	-24.7551	7.4666	0.27324	0.4038:0.0:0.5962:0.0	.	206;206	Q13505-2;Q13505	.;MTX1_HUMAN	Q	206	ENSP00000357360:R206Q;ENSP00000317106:R206Q	ENSP00000317106:R206Q	R	+	2	0	MTX1	153446981	0.998000	0.40836	0.992000	0.48379	0.970000	0.65996	0.943000	0.29030	0.397000	0.25310	-0.253000	0.11424	CGG	MTX1	-	pfam_Sam37/metaxin	ENSG00000173171		0.493	MTX1-001	KNOWN	basic|CCDS	protein_coding	MTX1	HGNC	protein_coding	OTTHUMT00000086844.1	-	0.00	101	0	G	NM_198883		155180357	+1	tier1	-	no_errors	ENST00000368376	ensembl	human	known	74_37	missense	32.54	84	41	SNP	0.982	A
MUC12	10071	genome.wustl.edu	37	7	100648029	100648029	+	Missense_Mutation	SNP	A	A	T	rs10953315	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:100648029A>T	ENST00000379442.3	+	5	14614	c.14614A>T	c.(14614-14616)Acc>Tcc	p.T4872S	MUC12_ENST00000536621.1_Missense_Mutation_p.T4729S			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4872	Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)		p.A4729T(1)		breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AGCCAGCACTGCCACAACACC	0.498																																																	1	Substitution - Missense(1)	stomach(1)											154.0	144.0	147.0					7																	100648029		692	1591	2283	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.14614A>T	7.37:g.100648029A>T	ENSP00000368755:p.Thr4872Ser		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA_dom	p.A4729S	ENST00000379442.3	37	c.14185		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.498	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1		0.00	75	0	A	XM_379904		100648029	+1			no_errors	ENST00000536621	ensembl	human	known	74_37	missense	43.66	40	31	SNP	0.000	T
MUC16	94025	genome.wustl.edu	37	19	9069367	9069367	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:9069367A>G	ENST00000397910.4	-	3	18282	c.18079T>C	c.(18079-18081)Tcc>Ccc	p.S6027P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6029	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGACAGAGGAATGTAGTTTA	0.453																																																	0													200.0	206.0	204.0					19																	9069367		1978	4162	6140	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18079T>C	19.37:g.9069367A>G	ENSP00000381008:p.Ser6027Pro		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S6027P	ENST00000397910.4	37	c.18079	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	a	7.779	0.709013	0.15239	.	.	ENSG00000181143	ENST00000397910	T	0.38722	1.12	1.22	1.22	0.21188	.	.	.	.	.	T	0.49592	0.1566	L	0.48642	1.525	.	.	.	D	0.69078	0.997	D	0.71184	0.972	T	0.56086	-0.8037	8	0.87932	D	0	.	4.6502	0.12591	1.0:0.0:0.0:0.0	.	6027	B5ME49	.	P	6027	ENSP00000381008:S6027P	ENSP00000381008:S6027P	S	-	1	0	MUC16	8930367	0.000000	0.05858	0.050000	0.19076	0.346000	0.29079	0.319000	0.19522	0.817000	0.34445	0.138000	0.15974	TCC	MUC16	-	NULL	ENSG00000181143		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	24	0	A	NM_024690		9069367	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	15.62	27	5	SNP	0.240	G
MUC16	94025	genome.wustl.edu	37	19	9089043	9089043	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:9089043G>T	ENST00000397910.4	-	1	2975	c.2772C>A	c.(2770-2772)agC>agA	p.S924R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	924	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGAGGTACTGCTCGTAGCTC	0.498																																																	0													96.0	98.0	97.0					19																	9089043		1972	4167	6139	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2772C>A	19.37:g.9089043G>T	ENSP00000381008:p.Ser924Arg		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S924R	ENST00000397910.4	37	c.2772	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.967	-0.213357	0.06140	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.55	-2.8	0.05823	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	.	.	.	B	0.20052	0.041	B	0.11329	0.006	T	0.47169	-0.9138	8	0.87932	D	0	.	0.4946	0.00569	0.1863:0.2452:0.321:0.2475	.	924	B5ME49	.	R	924	ENSP00000381008:S924R	ENSP00000381008:S924R	S	-	3	2	MUC16	8950043	0.000000	0.05858	0.000000	0.03702	0.085000	0.17905	0.027000	0.13621	-0.686000	0.05170	0.205000	0.17691	AGC	MUC16	-	NULL	ENSG00000181143		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	-	0.00	70	0	G	NM_024690		9089043	-1	tier1	-	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	41.33	44	31	SNP	0.000	T
MUC17	140453	genome.wustl.edu	37	7	100685146	100685146	+	Silent	SNP	T	T	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:100685146T>G	ENST00000306151.4	+	3	10513	c.10449T>G	c.(10447-10449)gtT>gtG	p.V3483V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3483	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTCCTGTTGACACCAGCA	0.493																																																	0													240.0	255.0	250.0					7																	100685146		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10449T>G	7.37:g.100685146T>G			O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.V3483	ENST00000306151.4	37	c.10449	CCDS34711.1	7																																																																																			MUC17	-	NULL	ENSG00000169876		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	-	0.00	102	0	T	NM_001040105		100685146	+1	tier1	-	no_errors	ENST00000306151	ensembl	human	known	74_37	silent	45.36	53	44	SNP	0.001	G
MUC2	4583	genome.wustl.edu	37	11	1093922	1093922	+	Missense_Mutation	SNP	C	C	T	rs535313607	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:1093922C>T	ENST00000441003.2	+	30	5768	c.5741C>T	c.(5740-5742)aCg>aTg	p.T1914M	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Missense_Mutation_p.T202M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4276					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCACCACCACGTCCCCTCCA	0.657													C|||	2	0.000399361	0.0	0.0	5008	,	,		17884	0.002		0.0	False		,,,				2504	0.0																0													66.0	92.0	83.0					11																	1093922		2180	4267	6447	SO:0001583	missense	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5741C>T	11.37:g.1093922C>T	ENSP00000415183:p.Thr1914Met		Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T1914M	ENST00000441003.2	37	c.5741		11	.	.	.	.	.	.	.	.	.	.	C	7.282	0.609232	0.14066	.	.	ENSG00000198788	ENST00000441003;ENST00000333592	T;T	0.13089	2.62;3.15	1.82	1.82	0.25136	.	.	.	.	.	T	0.08537	0.0212	N	0.22421	0.69	0.09310	N	1	D	0.67145	0.996	B	0.39339	0.297	T	0.24764	-1.0151	9	0.66056	D	0.02	.	8.5456	0.33419	0.0:1.0:0.0:0.0	.	1914	E7EUV1	.	M	1914;202	ENSP00000415183:T1914M;ENSP00000331373:T202M	ENSP00000331373:T202M	T	+	2	0	MUC2	1083922	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.182000	0.09726	1.014000	0.39417	0.305000	0.20034	ACG	MUC2	-	NULL	ENSG00000198788		0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	-	0.00	57	0	C	NM_002457		1093922	+1	tier1	-	no_errors	ENST00000441003	ensembl	human	known	74_37	missense	39.29	17	11	SNP	0.002	T
MUC2	4583	genome.wustl.edu	37	11	1102508	1102508	+	Missense_Mutation	SNP	C	C	T	rs556795222		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:1102508C>T	ENST00000441003.2	+	45	7919	c.7892C>T	c.(7891-7893)aCg>aTg	p.T2631M		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4993					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGTGAACAGACGCACTGTATC	0.617																																																	0													56.0	64.0	62.0					11																	1102508		2078	4197	6275	SO:0001583	missense	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7892C>T	11.37:g.1102508C>T	ENSP00000415183:p.Thr2631Met		Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T2631M	ENST00000441003.2	37	c.7892		11	.	.	.	.	.	.	.	.	.	.	C	3.202	-0.163522	0.06502	.	.	ENSG00000198788	ENST00000441003	T	0.65916	-0.18	3.78	2.78	0.32641	.	.	.	.	.	T	0.76681	0.4021	M	0.80746	2.51	0.22639	N	0.99891	D	0.89917	1.0	D	0.65987	0.94	T	0.64228	-0.6457	9	0.62326	D	0.03	.	10.7902	0.46428	0.189:0.811:0.0:0.0	.	2631	E7EUV1	.	M	2631	ENSP00000415183:T2631M	ENSP00000415183:T2631M	T	+	2	0	MUC2	1092508	0.923000	0.31300	0.997000	0.53966	0.035000	0.12851	1.846000	0.39289	1.808000	0.52836	0.561000	0.74099	ACG	MUC2	-	NULL	ENSG00000198788		0.617	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	-	0.00	31	0	C	NM_002457		1102508	+1	tier1	-	no_errors	ENST00000441003	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.775	T
MUC5B	727897	genome.wustl.edu	37	11	1263254	1263254	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:1263254C>A	ENST00000529681.1	+	31	5202	c.5144C>A	c.(5143-5145)cCc>cAc	p.P1715H	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P1718H	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1715	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCACAGCCACCCACGCTGGCC	0.662																																																	0													19.0	26.0	24.0					11																	1263254		2147	4233	6380	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5144C>A	11.37:g.1263254C>A	ENSP00000436812:p.Pro1715His		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P1718H	ENST00000529681.1	37	c.5153	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	5.509	0.278906	0.10458	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19394	2.15;2.34	2.22	-2.13	0.07144	.	.	.	.	.	T	0.07818	0.0196	N	0.24115	0.695	0.09310	N	1	P;P	0.50156	0.932;0.932	B;B	0.31337	0.128;0.128	T	0.26430	-1.0103	9	0.87932	D	0	.	0.5343	0.00634	0.3179:0.3032:0.2105:0.1685	.	2408;1718	A7Y9J9;E9PBJ0	.;.	H	1715;1718;1716;1785	ENSP00000436812:P1715H;ENSP00000415793:P1718H	ENSP00000343037:P1716H	P	+	2	0	MUC5B	1219830	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	1.122000	0.31295	-0.253000	0.09514	0.306000	0.20318	CCC	MUC5B	-	NULL	ENSG00000117983		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	-	0.00	36	0	C	XM_001126093		1263254	+1	tier1	-	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	21.05	15	4	SNP	0.000	A
MUM1L1	139221	genome.wustl.edu	37	X	105451090	105451090	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:105451090delC	ENST00000357175.2	+	4	2314	c.1665delC	c.(1663-1665)aacfs	p.N555fs	MUM1L1_ENST00000337685.2_Frame_Shift_Del_p.N555fs|MUM1L1_ENST00000372552.1_Frame_Shift_Del_p.N555fs	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	555						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCAACAAGAACCTGGTGGACT	0.473																																																	0													50.0	44.0	46.0					X																	105451090		1874	4087	5961	SO:0001589	frameshift_variant	0			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1665delC	X.37:g.105451090delC	ENSP00000349699:p.Asn555fs		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Frame_Shift_Del	DEL	superfamily_PyrdxlP-dep_Trfase	p.L556fs	ENST00000357175.2	37	c.1665	CCDS55469.1	X																																																																																			MUM1L1	-	NULL	ENSG00000157502		0.473	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1		0.00	16	0	C	NM_152423		105451090	+1	tier1		no_errors	ENST00000337685	ensembl	human	known	74_37	frame_shift_del	66.67	3	6	DEL	0.387	-
MUM1L1	139221	genome.wustl.edu	37	X	105451232	105451232	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:105451232G>T	ENST00000357175.2	+	4	2456	c.1807G>T	c.(1807-1809)Gaa>Taa	p.E603*	MUM1L1_ENST00000337685.2_Nonsense_Mutation_p.E603*|MUM1L1_ENST00000372552.1_Nonsense_Mutation_p.E603*	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	603						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTTTGAGGATGAAGATCAGTT	0.328																																																	0													43.0	38.0	40.0					X																	105451232		1858	4093	5951	SO:0001587	stop_gained	0			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1807G>T	X.37:g.105451232G>T	ENSP00000349699:p.Glu603*		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Nonsense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase	p.E603*	ENST00000357175.2	37	c.1807	CCDS55469.1	X	.	.	.	.	.	.	.	.	.	.	G	43	10.522903	0.99421	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	.	.	.	5.08	5.08	0.68730	.	0.240082	0.29145	N	0.013007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.7185	12.7039	0.57049	0.0:0.0:1.0:0.0	.	.	.	.	X	603	.	ENSP00000338641:E603X	E	+	1	0	MUM1L1	105337888	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.573000	0.74009	2.494000	0.84150	0.600000	0.82982	GAA	MUM1L1	-	superfamily_PyrdxlP-dep_Trfase	ENSG00000157502		0.328	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	-	0.00	19	0	G	NM_152423		105451232	+1	tier1	-	no_errors	ENST00000337685	ensembl	human	known	74_37	nonsense	15.79	16	3	SNP	1.000	T
MUT	4594	genome.wustl.edu	37	6	49423796	49423796	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:49423796G>T	ENST00000274813.3	-	4	1035	c.908C>A	c.(907-909)cCa>cAa	p.P303Q		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	303					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACTCACCTTGGTGCAAATTC	0.373																																																	0													66.0	62.0	64.0					6																	49423796		2203	4299	6502	SO:0001583	missense	0				CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.908C>A	6.37:g.49423796G>T	ENSP00000274813:p.Pro303Gln		A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C	p.P303Q	ENST00000274813.3	37	c.908	CCDS4924.1	6	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555432	0.86231	.	.	ENSG00000146085	ENST00000274813	D	0.98512	-4.97	5.57	5.57	0.84162	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.99099	0.9690	M	0.89214	3.015	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.99793	1.1032	10	0.87932	D	0	.	18.5367	0.91013	0.0:0.0:1.0:0.0	.	303	P22033	MUTA_HUMAN	Q	303	ENSP00000274813:P303Q	ENSP00000274813:P303Q	P	-	2	0	MUT	49531755	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	9.476000	0.97823	2.609000	0.88269	0.591000	0.81541	CCA	MUT	-	pfam_MeMalonylCoA_mutase_a/b_cat,superfamily_Cbl-dep_enz_cat,tigrfam_MMCoA_mutase_a_cat	ENSG00000146085		0.373	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUT	HGNC	protein_coding	OTTHUMT00000040854.1	-	0.00	51	0	G			49423796	-1	tier1	-	no_errors	ENST00000274813	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
MVK	4598	genome.wustl.edu	37	12	110019240	110019240	+	Frame_Shift_Del	DEL	C	C	-	rs104895310		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:110019240delC	ENST00000228510.3	+	5	488	c.412delC	c.(412-414)cccfs	p.P139fs	MVK_ENST00000539575.1_Intron|MVK_ENST00000539696.1_Intron|MVK_ENST00000392727.3_Intron|MVK_ENST00000541384.1_Intron|MVK_ENST00000535044.1_Intron	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	139					cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GTCGGAGCTGCCCCCCGGGGC	0.667																																																	0													65.0	66.0	65.0					12																	110019240		2203	4300	6503	SO:0001589	frameshift_variant	0			M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"""LH receptor mRNA-binding protein"", ""mevalonic aciduria"""	251170	"""mevalonate kinase (mevalonic aciduria)"""			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.412delC	12.37:g.110019240delC	ENSP00000228510:p.Pro139fs			Frame_Shift_Del	DEL	pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin	p.A141fs	ENST00000228510.3	37	c.412	CCDS9132.1	12																																																																																			MVK	-	pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin	ENSG00000110921		0.667	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVK	HGNC	protein_coding	OTTHUMT00000403143.1		0.00	51	0	C	NM_000431		110019240	+1	tier1		no_errors	ENST00000228510	ensembl	human	known	74_37	frame_shift_del	40.54	22	15	DEL	1.000	-
MVP	9961	genome.wustl.edu	37	16	29855904	29855904	+	Silent	SNP	C	C	T	rs372666702		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:29855904C>T	ENST00000357402.5	+	11	1863	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	MVP_ENST00000395353.1_Silent_p.I575I	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	575					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCAAAGCCATCGCATCCCGGG	0.552																																																	0								T	,	1,4393	2.1+/-5.4	0,1,2196	86.0	81.0	83.0		1725,1725	-7.8	0.3	16		83	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MVP	NM_005115.4,NM_017458.3	,	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	,	575/894,575/894	29855904	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	0			X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1725C>T	16.37:g.29855904C>T			Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Silent	SNP	pfam_Vault_N,pfam_MVP_shoulder	p.I575	ENST00000357402.5	37	c.1725	CCDS10656.1	16																																																																																			MVP	-	pfam_MVP_shoulder	ENSG00000013364		0.552	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVP	HGNC	protein_coding	OTTHUMT00000109711.3	-	0.00	52	0	C	NM_005115		29855904	+1	tier1	-	no_errors	ENST00000357402	ensembl	human	known	74_37	silent	30.61	34	15	SNP	0.770	T
MXI1	4601	genome.wustl.edu	37	10	112045287	112045287	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:112045287delT	ENST00000239007.7	+	0	1447				MXI1_ENST00000332674.5_3'UTR|MXI1_ENST00000361248.4_3'UTR|MXI1_ENST00000485566.1_3'UTR	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein						cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		tttattattattttttttttt	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7534	protein-coding gene	gene with protein product		600020	"""MAX interacting protein 1"", ""MAX interactor 1"""			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.*542T>-	10.37:g.112045287delT			B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	RNA	DEL	-	NULL	ENST00000239007.7	37	NULL	CCDS7564.2	10																																																																																			MXI1	-	-	ENSG00000119950		0.353	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	MXI1	HGNC	protein_coding	OTTHUMT00000050316.1		0.00	17	0	T	NM_130439		112045287	+1	tier1		no_errors	ENST00000485566	ensembl	human	known	74_37	rna	27.27	16	6	DEL	0.000	-
MXI1	4601	genome.wustl.edu	37	10	112046251	112046254	+	3'UTR	DEL	AAAA	AAAA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:112046251_112046254delAAAA	ENST00000239007.7	+	0	2411_2414				MXI1_ENST00000332674.5_3'UTR|MXI1_ENST00000361248.4_3'UTR|MXI1_ENST00000485566.1_3'UTR	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein						cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TTAATTACTTAAAAAAAAAAAAAA	0.348																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7534	protein-coding gene	gene with protein product		600020	"""MAX interacting protein 1"", ""MAX interactor 1"""			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.*1509AAAA>-	10.37:g.112046259_112046262delAAAA			B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	RNA	DEL	-	NULL	ENST00000239007.7	37	NULL	CCDS7564.2	10																																																																																			MXI1	-	-	ENSG00000119950		0.348	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	MXI1	HGNC	protein_coding	OTTHUMT00000050316.1		0.00	94	0	AAAA	NM_130439		112046254	+1	tier1		no_errors	ENST00000485566	ensembl	human	known	74_37	rna	29.00	71	29	DEL	1.000:1.000:0.998:0.431	-
MYCBP2	23077	genome.wustl.edu	37	13	77661891	77661891	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:77661891delA	ENST00000544440.2	-	62	10629				MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Intron|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2_ENST00000407578.2_Intron					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTTTTAATTAAAAAAAATGC	0.318																																																	0																																										SO:0001627	intron_variant	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.10612-123T>-	13.37:g.77661891delA				RNA	DEL	-	NULL	ENST00000544440.2	37	NULL		13																																																																																			MYCBP2-AS1	-	-	ENSG00000236051		0.318	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2-AS1	HGNC	protein_coding	OTTHUMT00000045326.1		0.00	12	0	A	NM_015057		77661891	+1	tier1		no_errors	ENST00000422231	ensembl	human	known	74_37	rna	26.67	11	4	DEL	0.000	-
MYEF2	50804	genome.wustl.edu	37	15	48441553	48441553	+	Missense_Mutation	SNP	C	C	T	rs200959924		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:48441553C>T	ENST00000324324.7	-	15	1673	c.1394G>A	c.(1393-1395)aGc>aAc	p.S465N	MYEF2_ENST00000267836.6_Missense_Mutation_p.S441N	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	465	Gly-rich.		S -> G (in dbSNP:rs36075490). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.5}.		myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		ACTGTTCATGCTACCCATTCC	0.463																																																	0													92.0	93.0	93.0					15																	48441553		2198	4296	6494	SO:0001583	missense	0			AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1394G>A	15.37:g.48441553C>T	ENSP00000316950:p.Ser465Asn		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S465N	ENST00000324324.7	37	c.1394	CCDS32230.1	15	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381430	0.24944	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	T;T	0.31247	1.5;1.5	4.9	4.9	0.64082	.	0.254934	0.39475	N	0.001360	T	0.14917	0.0360	N	0.02802	-0.49	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15896	-1.0421	10	0.38643	T	0.18	-3.6191	14.5803	0.68284	0.0:0.8536:0.1464:0.0	.	441;465	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	N	465;441;53	ENSP00000316950:S465N;ENSP00000267836:S441N	ENSP00000267836:S441N	S	-	2	0	MYEF2	46228845	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.211000	0.51137	2.657000	0.90304	0.585000	0.79938	AGC	MYEF2	-	NULL	ENSG00000104177		0.463	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYEF2	HGNC	protein_coding	OTTHUMT00000416909.2	-	0.00	22	0	C	NM_016132		48441553	-1	tier1	rs200959924	no_errors	ENST00000324324	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	T
MYH11	4629	genome.wustl.edu	37	16	15820795	15820797	+	In_Frame_Del	DEL	CTT	CTT	-	rs149241435		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:15820795_15820797delCTT	ENST00000300036.5	-	28	3875_3877	c.3766_3768delAAG	c.(3766-3768)aagdel	p.K1256del	MYH11_ENST00000452625.2_In_Frame_Del_p.K1263del|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000396324.3_In_Frame_Del_p.K1263del|MYH11_ENST00000576790.2_In_Frame_Del_p.K1256del	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1256			Missing (in AAT4). {ECO:0000269|PubMed:16444274}.		axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.K1256delK(1)|p.K1263delK(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCGCCTCCAGCTTCTTCTTCTTA	0.611			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	2	Deletion - In frame(2)	large_intestine(2)																																								SO:0001651	inframe_deletion	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3766_3768delAAG	16.37:g.15820804_15820806delCTT	ENSP00000300036:p.Lys1256del		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	In_Frame_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.K1263in_frame_del	ENST00000300036.5	37	c.3789_3787	CCDS10565.1	16																																																																																			MYH11	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000133392		0.611	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2		0.00	72	0	CTT	NM_001040113		15820797	-1	tier1		no_errors	ENST00000396324	ensembl	human	known	74_37	in_frame_del	34.43	40	21	DEL	1.000:1.000:1.000	-
MYH11	4629	genome.wustl.edu	37	16	15857682	15857682	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:15857682G>T	ENST00000300036.5	-	10	1209	c.1100C>A	c.(1099-1101)aCa>aAa	p.T367K	MYH11_ENST00000452625.2_Missense_Mutation_p.T374K|MYH11_ENST00000396324.3_Missense_Mutation_p.T374K|MYH11_ENST00000576790.2_Missense_Mutation_p.T367K	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	367	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCCTGGTCTGTGTTTCTTTC	0.507			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													208.0	180.0	190.0					16																	15857682		2197	4300	6497	SO:0001583	missense	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1100C>A	16.37:g.15857682G>T	ENSP00000300036:p.Thr367Lys		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.T374K	ENST00000300036.5	37	c.1121	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	g	16.40	3.112604	0.56398	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.31	5.31	0.75309	Myosin head, motor domain (2);	0.307696	0.32328	N	0.006247	D	0.85248	0.5653	L	0.51914	1.62	0.40256	D	0.978127	B;B;B;B;B;B	0.17852	0.003;0.024;0.024;0.024;0.024;0.024	B;B;B;B;B;B	0.15870	0.014;0.009;0.009;0.009;0.009;0.014	T	0.82659	-0.0348	10	0.72032	D	0.01	.	17.9753	0.89126	0.0:0.0:1.0:0.0	.	374;367;367;374;367;374	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	K	367;367;374;374;374	ENSP00000300036:T367K;ENSP00000345136:T367K;ENSP00000379616:T374K;ENSP00000407821:T374K	ENSP00000300036:T367K	T	-	2	0	MYH11	15765183	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	3.981000	0.56902	2.482000	0.83794	0.556000	0.70494	ACA	MYH11	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133392		0.507	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	-	0.00	70	0	G	NM_001040113		15857682	-1	tier1	-	no_errors	ENST00000396324	ensembl	human	known	74_37	missense	8.93	51	5	SNP	1.000	T
MYH13	8735	genome.wustl.edu	37	17	10216613	10216613	+	Missense_Mutation	SNP	C	C	A	rs200236843		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:10216613C>A	ENST00000418404.3	-	29	4206	c.4043G>T	c.(4042-4044)cGg>cTg	p.R1348L	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1348L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1348					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATACTGTTCCCGCAGCAGGTC	0.597																																																	0													136.0	123.0	128.0					17																	10216613		2203	4298	6501	SO:0001583	missense	0			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4043G>T	17.37:g.10216613C>A	ENSP00000404570:p.Arg1348Leu		O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1348L	ENST00000418404.3	37	c.4043	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961176	0.92791	.	.	ENSG00000006788	ENST00000252172	D	0.84370	-1.84	3.95	3.95	0.45737	Myosin tail (1);	.	.	.	.	D	0.94142	0.8121	M	0.94021	3.485	0.43377	D	0.995471	D	0.89917	1.0	D	0.91635	0.999	D	0.95843	0.8868	9	0.87932	D	0	.	16.5503	0.84471	0.0:1.0:0.0:0.0	.	1348	Q9UKX3	MYH13_HUMAN	L	1348	ENSP00000252172:R1348L	ENSP00000252172:R1348L	R	-	2	0	MYH13	10157338	0.951000	0.32395	1.000000	0.80357	0.988000	0.76386	7.531000	0.81973	2.202000	0.70862	0.455000	0.32223	CGG	MYH13	-	pfam_Myosin_tail	ENSG00000006788		0.597	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	-	0.00	110	0	C	NM_003802		10216613	-1	tier1	-	no_errors	ENST00000252172	ensembl	human	known	74_37	missense	24.18	68	22	SNP	1.000	A
MYH14	79784	genome.wustl.edu	37	19	50783570	50783570	+	Missense_Mutation	SNP	G	G	A	rs553162373	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:50783570G>A	ENST00000596571.1	+	29	4097	c.4097G>A	c.(4096-4098)cGt>cAt	p.R1366H	MYH14_ENST00000440075.2_Missense_Mutation_p.R1407H|MYH14_ENST00000262269.8_Missense_Mutation_p.R1407H|MYH14_ENST00000376970.2_Missense_Mutation_p.R1399H|MYH14_ENST00000601313.1_Missense_Mutation_p.R1407H|MYH14_ENST00000598205.1_Missense_Mutation_p.R1374H|MYH14_ENST00000425460.1_Missense_Mutation_p.R1374H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1366					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCCGGGCTGCGTGAGCAGCTG	0.667													G|||	2	0.000399361	0.0	0.0014	5008	,	,		16724	0.001		0.0	False		,,,				2504	0.0																0													10.0	14.0	13.0					19																	50783570		1638	3289	4927	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4097G>A	19.37:g.50783570G>A	ENSP00000472819:p.Arg1366His		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1407H	ENST00000596571.1	37	c.4220	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975985	0.34848	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	3.41	2.37	0.29283	Myosin tail (1);	.	.	.	.	D	0.85146	0.5630	L	0.48877	1.53	0.26407	N	0.976328	D;D;D	0.67145	0.996;0.985;0.989	P;P;P	0.56865	0.808;0.806;0.707	T	0.74609	-0.3608	9	0.87932	D	0	.	5.5978	0.17337	0.2553:0.0:0.7447:0.0	.	1407;1366;1374	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	1366;1407;1399;1374;1407	ENSP00000406273:R1407H;ENSP00000366169:R1399H;ENSP00000407879:R1374H;ENSP00000262269:R1407H	ENSP00000262269:R1407H	R	+	2	0	MYH14	55475382	0.000000	0.05858	0.997000	0.53966	0.171000	0.22731	0.145000	0.16157	0.779000	0.33543	0.455000	0.32223	CGT	MYH14	-	pfam_Myosin_tail	ENSG00000105357		0.667	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	-	0.00	78	0	G	NM_024729		50783570	+1	tier1	-	no_errors	ENST00000262269	ensembl	human	known	74_37	missense	38.18	34	21	SNP	0.992	A
MYH4	4622	genome.wustl.edu	37	17	10356509	10356509	+	Missense_Mutation	SNP	A	A	G	rs150138598		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:10356509A>G	ENST00000255381.2	-	24	3181	c.3071T>C	c.(3070-3072)cTg>cCg	p.L1024P	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1024					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGCTTTGGTCAGGGTGTTGAC	0.463																																																	0								A	PRO/LEU	1,4405	2.1+/-5.4	0,1,2202	338.0	302.0	315.0		3071	5.3	1.0	17	dbSNP_134	315	0,8600		0,0,4300	no	missense	MYH4	NM_017533.2	98	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	1024/1940	10356509	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3071T>C	17.37:g.10356509A>G	ENSP00000255381:p.Leu1024Pro			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1024P	ENST00000255381.2	37	c.3071	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708394	0.68615	2.27E-4	0.0	ENSG00000141048	ENST00000255381	D	0.92099	-2.97	5.28	5.28	0.74379	.	0.000000	0.30085	U	0.010453	D	0.97570	0.9204	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99091	1.0840	10	0.87932	D	0	.	15.5054	0.75735	1.0:0.0:0.0:0.0	.	1024	Q9Y623	MYH4_HUMAN	P	1024	ENSP00000255381:L1024P	ENSP00000255381:L1024P	L	-	2	0	MYH4	10297234	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.163000	0.94750	2.116000	0.64780	0.533000	0.62120	CTG	MYH4	-	NULL	ENSG00000264424		0.463	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	-	0.00	208	0	A	NM_017533		10356509	-1	tier1	rs150138598	no_errors	ENST00000255381	ensembl	human	known	74_37	missense	35.27	145	79	SNP	1.000	G
MYH4	4622	genome.wustl.edu	37	17	10370033	10370033	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:10370033delA	ENST00000255381.2	-	3	140	c.30delT	c.(28-30)tttfs	p.F10fs	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	10					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CAGCCTCCCCAAAAATGGCCA	0.468																																																	0													86.0	79.0	81.0					17																	10370033		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.30delT	17.37:g.10370033delA	ENSP00000255381:p.Phe10fs			Frame_Shift_Del	DEL	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F10fs	ENST00000255381.2	37	c.30	CCDS11154.1	17																																																																																			MYH4	-	NULL	ENSG00000264424		0.468	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1		0.00	40	0	A	NM_017533		10370033	-1	tier1		no_errors	ENST00000255381	ensembl	human	known	74_37	frame_shift_del	32.00	34	16	DEL	1.000	-
MYL10	93408	genome.wustl.edu	37	7	101259565	101259565	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:101259565C>A	ENST00000223167.4	-	6	645	c.468G>T	c.(466-468)gaG>gaT	p.E156D		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	156	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GAATGGTCTCCTCTGGGTCCG	0.587																																					Esophageal Squamous(24;575 709 17516 40384 51639)												0													107.0	85.0	92.0					7																	101259565		2203	4300	6503	SO:0001583	missense	0			BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.468G>T	7.37:g.101259565C>A	ENSP00000223167:p.Glu156Asp			Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.E156D	ENST00000223167.4	37	c.468	CCDS34713.1	7	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593426	0.66219	.	.	ENSG00000106436	ENST00000223167	T	0.71934	-0.61	4.78	2.62	0.31277	EF-hand-like domain (1);	0.243076	0.31976	N	0.006762	T	0.79805	0.4509	M	0.79693	2.465	0.48975	D	0.999736	D	0.59357	0.985	D	0.63488	0.915	T	0.79247	-0.1882	10	0.72032	D	0.01	.	6.4962	0.22144	0.0:0.6914:0.0:0.3086	.	156	Q9BUA6	MYL10_HUMAN	D	156	ENSP00000223167:E156D	ENSP00000223167:E156D	E	-	3	2	MYL10	101046285	0.987000	0.35691	0.998000	0.56505	0.962000	0.63368	0.214000	0.17541	0.992000	0.38840	0.644000	0.83932	GAG	MYL10	-	pfscan_EF_hand_dom	ENSG00000106436		0.587	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL10	HGNC	protein_coding	OTTHUMT00000347575.1	-	0.00	108	0	C	NM_138403		101259565	-1	tier1	-	no_errors	ENST00000223167	ensembl	human	known	74_37	missense	37.08	56	33	SNP	1.000	A
MYLK3	91807	genome.wustl.edu	37	16	46746626	46746626	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:46746626A>G	ENST00000394809.4	-	10	2163	c.2048T>C	c.(2047-2049)gTc>gCc	p.V683A	MYLK3_ENST00000536476.1_Missense_Mutation_p.V342A|MYLK3_ENST00000562104.1_5'Flank	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	683	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATAATTGACGACTTCTGGGGC	0.537																																																	0													97.0	83.0	88.0					16																	46746626		2203	4300	6503	SO:0001583	missense	0			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2048T>C	16.37:g.46746626A>G	ENSP00000378288:p.Val683Ala		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V683A	ENST00000394809.4	37	c.2048	CCDS10723.2	16	.	.	.	.	.	.	.	.	.	.	A	27.6	4.842002	0.91197	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.70516	-0.49;-0.49	5.85	5.85	0.93711	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32518	N	0.005994	D	0.82499	0.5050	M	0.64260	1.97	0.80722	D	1	D	0.59767	0.986	D	0.76575	0.988	D	0.84211	0.0456	10	0.87932	D	0	.	16.2355	0.82371	1.0:0.0:0.0:0.0	.	683	Q32MK0	MYLK3_HUMAN	A	683;342	ENSP00000378288:V683A;ENSP00000439297:V342A	ENSP00000378288:V683A	V	-	2	0	MYLK3	45304127	1.000000	0.71417	0.946000	0.38457	0.870000	0.49936	9.273000	0.95719	2.238000	0.73509	0.533000	0.62120	GTC	MYLK3	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000140795		0.537	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYLK3	HGNC	protein_coding	OTTHUMT00000255743.2	-	0.00	40	0	A	NM_182493		46746626	-1	tier1	-	no_errors	ENST00000394809	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.999	G
MYO15A	51168	genome.wustl.edu	37	17	18023733	18023733	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:18023733G>A	ENST00000205890.5	+	2	1957	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	540					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCGCGCCAGCGCAACCTCCAG	0.721																																																	0													12.0	16.0	15.0					17																	18023733		1893	4058	5951	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1619G>A	17.37:g.18023733G>A	ENSP00000205890:p.Arg540His		B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.R540H	ENST00000205890.5	37	c.1619	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760067	0.69763	.	.	ENSG00000091536	ENST00000205890	D	0.89123	-2.47	4.95	3.97	0.46021	.	.	.	.	.	D	0.86531	0.5955	L	0.27053	0.805	0.80722	D	1	D	0.64830	0.994	P	0.54431	0.752	D	0.86653	0.1899	9	0.66056	D	0.02	.	9.707	0.40222	0.0976:0.0:0.9023:0.0	.	540	Q9UKN7	MYO15_HUMAN	H	540	ENSP00000205890:R540H	ENSP00000205890:R540H	R	+	2	0	MYO15A	17964458	0.989000	0.36119	1.000000	0.80357	0.951000	0.60555	2.624000	0.46444	2.295000	0.77249	0.448000	0.29417	CGC	MYO15A	-	NULL	ENSG00000091536		0.721	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	-	0.00	31	0	G	NM_016239		18023733	+1	tier1	-	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	40.91	13	9	SNP	0.913	A
MYO15B	80022	genome.wustl.edu	37	17	73616646	73616646	+	3'UTR	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:73616646G>A	ENST00000578382.2	+	0	7406					NR_003587.2		Q96JP2	MY15B_HUMAN	myosin XVB pseudogene							cytoplasm (GO:0005737)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)										AAGGAGCAGAGGAGTGGCTGG	0.642																																																	0																																										SO:0001624	3_prime_UTR_variant	0					17q25.1	2014-07-16			ENSG00000266714	ENSG00000266714		"""Myosins / Myosin superfamily : Class XV"""	14083	pseudogene	pseudogene						11294886	Standard	NR_003587		Approved	MYO15BP	uc002jon.1	Q96JP2	OTTHUMG00000179794	ENST00000578382.2:c.*7403G>A	17.37:g.73616646G>A				RNA	SNP	-	NULL	ENST00000578382.2	37	NULL		17																																																																																			MYO15B	-	-	ENSG00000266714		0.642	MYO15B-001	KNOWN	sequence_error|basic	processed_transcript	MYO15B	HGNC	protein_coding	OTTHUMT00000448172.2	-	0.00	66	0	G	NR_003587		73616646	+1	tier1	-	no_errors	ENST00000578382	ensembl	human	known	74_37	rna	46.15	21	18	SNP	0.388	A
MYO16	23026	genome.wustl.edu	37	13	109661386	109661386	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:109661386delT	ENST00000357550.2	+	21	2559	c.2518delT	c.(2518-2520)tttfs	p.F842fs	MYO16_ENST00000356711.2_Frame_Shift_Del_p.F842fs|MYO16_ENST00000251041.5_Frame_Shift_Del_p.F842fs|MYO16_ENST00000457511.2_Frame_Shift_Del_p.F354fs	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGTTTTGGACTTTTTTTTCCA	0.353																																																	0													69.0	74.0	72.0					13																	109661386		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.2518delT	13.37:g.109661386delT	ENSP00000350160:p.Phe842fs			Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F842fs	ENST00000357550.2	37	c.2518	CCDS32008.1	13																																																																																			MYO16	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000041515		0.353	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1		0.00	48	0	T	NM_015011		109661386	+1	tier1		no_errors	ENST00000356711	ensembl	human	known	74_37	frame_shift_del	45.57	43	36	DEL	1.000	-
MYO16	23026	genome.wustl.edu	37	13	109792622	109792622	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:109792622G>A	ENST00000357550.2	+	31	4037	c.3996G>A	c.(3994-3996)cgG>cgA	p.R1332R	MYO16_ENST00000356711.2_Silent_p.R1332R	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTCTGGCCCGGCCCAGACCGC	0.677																																																	0													43.0	38.0	40.0					13																	109792622		2199	4296	6495	SO:0001819	synonymous_variant	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3996G>A	13.37:g.109792622G>A				Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1332	ENST00000357550.2	37	c.3996	CCDS32008.1	13																																																																																			MYO16	-	NULL	ENSG00000041515		0.677	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	-	0.00	33	0	G	NM_015011		109792622	+1	tier1	-	no_errors	ENST00000356711	ensembl	human	known	74_37	silent	34.21	25	13	SNP	0.925	A
TIAF1	9220	genome.wustl.edu	37	17	27401360	27401360	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:27401360C>T	ENST00000359450.6	-	0	4515				MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000527372.1_3'UTR|TIAF1_ENST00000408971.2_De_novo_Start_OutOfFrame|MYO18A_ENST00000531253.1_3'UTR	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1						apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCACCCCACACGAGAGGGAAG	0.562																																																	0																																												0			AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411		ENST00000359450.6:c.-143G>A	17.37:g.27401360C>T			A2RRE2|Q6PEG2	RNA	SNP	-	NULL	ENST00000359450.6	37	NULL	CCDS32599.1	17																																																																																			MYO18A	-	-	ENSG00000196535		0.562	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000372394.2	-	0.00	20	0	C	NM_004740		27401360	-1	tier1	-	no_errors	ENST00000529578	ensembl	human	known	74_37	rna	42.86	12	9	SNP	0.001	T
MYO18A	399687	genome.wustl.edu	37	17	27448877	27448877	+	Missense_Mutation	SNP	C	C	T	rs373443144		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:27448877C>T	ENST00000527372.1	-	4	1366	c.1186G>A	c.(1186-1188)Gtt>Att	p.V396I	MYO18A_ENST00000354329.4_Missense_Mutation_p.V396I|MYO18A_ENST00000533112.1_Missense_Mutation_p.V396I|MYO18A_ENST00000531253.1_Missense_Mutation_p.V396I	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	396	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACCTTCTCAACGTCATCCTCA	0.622																																					Esophageal Squamous(182;472 2015 7001 15270 22562)												0								C	ILE/VAL,ILE/VAL	0,4116		0,0,2058	88.0	89.0	89.0		1186,1186	2.5	0.4	17		89	1,8393		0,1,4196	no	missense,missense	MYO18A	NM_078471.3,NM_203318.1	29,29	0,1,6254	TT,TC,CC		0.0119,0.0,0.0080	benign,benign	396/2055,396/2040	27448877	1,12509	2058	4197	6255	SO:0001583	missense	0			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.1186G>A	17.37:g.27448877C>T	ENSP00000437073:p.Val396Ile		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.V396I	ENST00000527372.1	37	c.1186	CCDS45642.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.44|15.44	2.834338|2.834338	0.50951|0.50951	0.0|0.0	1.19E-4|1.19E-4	ENSG00000196535|ENSG00000196535	ENST00000528564|ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000531686	.|T;T;T;T	.|0.72167	.|-0.63;-0.63;-0.63;-0.63	5.64|5.64	2.52|2.52	0.30459|0.30459	.|.	.|0.169097	.|0.51477	.|N	.|0.000086	T|T	0.53818|0.53818	0.1820|0.1820	L|L	0.43757|0.43757	1.38|1.38	0.30926|0.30926	N|N	0.727406|0.727406	.|B;B;B;B	.|0.32526	.|0.03;0.374;0.019;0.014	.|B;B;B;B	.|0.22601	.|0.028;0.04;0.01;0.007	T|T	0.50825|0.50825	-0.8782|-0.8782	5|10	.|0.26408	.|T	.|0.33	.|.	7.283|7.283	0.26322|0.26322	0.1221:0.6887:0.0:0.1893|0.1221:0.6887:0.0:0.1893	.|.	.|65;396;396;396	.|Q92614-2;Q92614-3;Q92614-4;Q92614	.|.;.;.;MY18A_HUMAN	H|I	101|396;396;396;396;396;76	.|ENSP00000346291:V396I;ENSP00000435932:V396I;ENSP00000434228:V396I;ENSP00000437073:V396I	.|ENSP00000346291:V396I	R|V	-|-	2|1	0|0	MYO18A|MYO18A	24473003|24473003	0.764000|0.764000	0.28473|0.28473	0.354000|0.354000	0.25760|0.25760	0.903000|0.903000	0.53119|0.53119	1.468000|1.468000	0.35332|0.35332	0.306000|0.306000	0.22856|0.22856	0.655000|0.655000	0.94253|0.94253	CGT|GTT	MYO18A	-	superfamily_P-loop_NTPase	ENSG00000196535		0.622	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	-	0.00	59	0	C	NM_078471		27448877	-1	tier1	-	no_errors	ENST00000354329	ensembl	human	known	74_37	missense	37.14	22	13	SNP	0.949	T
MYO18B	84700	genome.wustl.edu	37	22	26173631	26173631	+	Missense_Mutation	SNP	C	C	T	rs375068756		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:26173631C>T	ENST00000407587.2	+	8	2120	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	MYO18B_ENST00000335473.7_Missense_Mutation_p.R651W|MYO18B_ENST00000536101.1_Missense_Mutation_p.R651W			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	651	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTGAACCAGCGGAGAGACCA	0.652																																																	0								C	TRP/ARG	1,4145		0,1,2072	53.0	60.0	58.0		1951	2.0	0.1	22		58	0,8414		0,0,4207	no	missense	MYO18B	NM_032608.5	101	0,1,6279	TT,TC,CC		0.0,0.0241,0.0080	probably-damaging	651/2568	26173631	1,12559	2073	4207	6280	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1951C>T	22.37:g.26173631C>T	ENSP00000386096:p.Arg651Trp		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R651W	ENST00000407587.2	37	c.1951		22	.	.	.	.	.	.	.	.	.	.	C	8.989	0.977149	0.18812	2.41E-4	0.0	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.73363	-0.74;-0.74;-0.74	5.25	1.96	0.26148	Myosin head, motor domain (2);	0.067051	0.56097	D	0.000021	T	0.75057	0.3798	M	0.90019	3.08	0.38642	D	0.95163	B;B;B;B	0.32071	0.198;0.355;0.162;0.306	B;B;B;B	0.29598	0.039;0.104;0.029;0.063	T	0.74084	-0.3779	10	0.87932	D	0	.	8.6361	0.33948	0.27:0.6586:0.0:0.0714	.	164;651;651;651	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	W	651	ENSP00000441229:R651W;ENSP00000334563:R651W;ENSP00000386096:R651W	ENSP00000334563:R651W	R	+	1	2	MYO18B	24503631	0.840000	0.29493	0.117000	0.21633	0.002000	0.02628	0.971000	0.29396	0.199000	0.20427	-0.244000	0.11960	CGG	MYO18B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133454		0.652	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0.00	139	0	C	NM_032608		26173631	+1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	42.16	59	43	SNP	0.992	T
MYO18B	84700	genome.wustl.edu	37	22	26239856	26239856	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:26239856delA	ENST00000407587.2	+	18	3535	c.3366delA	c.(3364-3366)tcafs	p.S1122fs	MYO18B_ENST00000335473.7_Frame_Shift_Del_p.S1121fs|MYO18B_ENST00000536101.1_Frame_Shift_Del_p.S1121fs			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1121	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGCACCAGTCAAAAAGGTGAG	0.592																																																	0													26.0	27.0	27.0					22																	26239856		1977	4150	6127	SO:0001589	frameshift_variant	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3366delA	22.37:g.26239856delA	ENSP00000386096:p.Ser1122fs		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1123fs	ENST00000407587.2	37	c.3363		22																																																																																			MYO18B	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000133454		0.592	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1		0.00	38	0	A	NM_032608		26239856	+1	tier1		no_errors	ENST00000335473	ensembl	human	known	74_37	frame_shift_del	6.25	30	2	DEL	0.001	-
MYO18B	84700	genome.wustl.edu	37	22	26422673	26422673	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:26422673A>G	ENST00000407587.2	+	43	6905	c.6736A>G	c.(6736-6738)Agt>Ggt	p.S2246G	MYO18B_ENST00000335473.7_Missense_Mutation_p.S2245G|MYO18B_ENST00000536101.1_Missense_Mutation_p.S2245G			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2245						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAAGCTGCCCAGTCCTTCAGC	0.607																																																	0													24.0	25.0	25.0					22																	26422673		1907	4104	6011	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6736A>G	22.37:g.26422673A>G	ENSP00000386096:p.Ser2246Gly		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S2245G	ENST00000407587.2	37	c.6733		22	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880540	0.72294	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.94687	-3.47;-3.47;-3.49	4.94	4.94	0.65067	.	0.219054	0.31071	N	0.008310	D	0.96052	0.8714	M	0.64997	1.995	0.31770	N	0.632221	D;D;D;D;D	0.76494	0.993;0.999;0.999;0.999;0.999	P;P;P;D;D	0.66602	0.879;0.883;0.883;0.945;0.945	D	0.96026	0.9013	10	0.62326	D	0.03	.	13.4051	0.60908	1.0:0.0:0.0:0.0	.	1758;2247;2245;2246;2245	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	G	2245;2245;2246	ENSP00000441229:S2245G;ENSP00000334563:S2245G;ENSP00000386096:S2246G	ENSP00000334563:S2245G	S	+	1	0	MYO18B	24752673	0.994000	0.37717	0.970000	0.41538	0.993000	0.82548	3.402000	0.52608	1.862000	0.54008	0.402000	0.26972	AGT	MYO18B	-	NULL	ENSG00000133454		0.607	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0.00	38	0	A	NM_032608		26422673	+1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	25.00	18	6	SNP	0.870	G
MYO18B	84700	genome.wustl.edu	37	22	26423570	26423570	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:26423570G>A	ENST00000407587.2	+	43	7802	c.7633G>A	c.(7633-7635)Gag>Aag	p.E2545K	MYO18B_ENST00000335473.7_Missense_Mutation_p.E2544K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2544K			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2544						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AACGTCCCCCGAGCGGAGAGA	0.552																																																	0													43.0	44.0	43.0					22																	26423570		1950	4124	6074	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7633G>A	22.37:g.26423570G>A	ENSP00000386096:p.Glu2545Lys		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E2544K	ENST00000407587.2	37	c.7630		22	.	.	.	.	.	.	.	.	.	.	G	9.799	1.180113	0.21787	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88354	-2.35;-2.35;-2.37	5.17	2.78	0.32641	.	0.386006	0.19525	N	0.112195	D	0.87485	0.6189	M	0.62723	1.935	0.09310	N	1	P;P;P;P;D	0.56035	0.907;0.956;0.956;0.948;0.974	B;B;B;B;P	0.44696	0.246;0.27;0.27;0.325;0.458	T	0.80915	-0.1169	10	0.87932	D	0	.	11.7252	0.51706	0.0:0.1247:0.7309:0.1444	.	2057;2546;2544;2545;2544	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7	.;.;MY18B_HUMAN;.;.	K	2544;2544;2545	ENSP00000441229:E2544K;ENSP00000334563:E2544K;ENSP00000386096:E2545K	ENSP00000334563:E2544K	E	+	1	0	MYO18B	24753570	0.825000	0.29262	0.003000	0.11579	0.011000	0.07611	2.193000	0.42658	1.119000	0.41883	0.561000	0.74099	GAG	MYO18B	-	NULL	ENSG00000133454		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	-	0.00	27	0	G	NM_032608		26423570	+1	tier1	-	no_errors	ENST00000335473	ensembl	human	known	74_37	missense	42.11	11	8	SNP	0.001	A
MYO19	80179	genome.wustl.edu	37	17	34862904	34862904	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:34862904delG	ENST00000431794.3	-	17	2064	c.1542delC	c.(1540-1542)cccfs	p.P514fs	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	514	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGCCCAGGCAGGGGCTGCCTG	0.632																																																	0													45.0	46.0	46.0					17																	34862904		1568	3582	5150	SO:0001589	frameshift_variant	0			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1542delC	17.37:g.34862904delG	ENSP00000409936:p.Pro514fs		Q59GS4|Q9H5X2	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.C515fs	ENST00000431794.3	37	c.1542	CCDS54112.1	17																																																																																			MYO19	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000141140		0.632	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO19	HGNC	protein_coding	OTTHUMT00000451074.1		0.00	52	0	G	NM_025109		34862904	-1	tier1		no_errors	ENST00000431794	ensembl	human	known	74_37	frame_shift_del	31.37	35	16	DEL	0.926	-
MYO1A	4640	genome.wustl.edu	37	12	57422573	57422573	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:57422573delT	ENST00000442789.2	-	29	3385	c.3098delA	c.(3097-3099)aagfs	p.K1033fs	TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000544473.1_Frame_Shift_Del_p.K871fs|MYO1A_ENST00000300119.3_Frame_Shift_Del_p.K1033fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ATGACTCCCCTTTTTTTTGTA	0.557																																																	1	Unknown(1)	skin(1)											230.0	188.0	202.0					12																	57422573		2203	4300	6503	SO:0001589	frameshift_variant	0			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.3098delA	12.37:g.57422573delT	ENSP00000393392:p.Lys1033fs		Q9UQD7	Frame_Shift_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.K1033fs	ENST00000442789.2	37	c.3098	CCDS8929.1	12																																																																																			MYO1A	-	pfam_Myosin_tail_2	ENSG00000166866		0.557	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2		0.00	77	0	T	NM_005379		57422573	-1	tier1		no_errors	ENST00000300119	ensembl	human	known	74_37	frame_shift_del	30.67	52	23	DEL	1.000	-
MYO1C	4641	genome.wustl.edu	37	17	1386310	1386310	+	Missense_Mutation	SNP	G	G	A	rs200048542		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:1386310G>A	ENST00000575158.1	-	4	462	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	MYO1C_ENST00000359786.5_Missense_Mutation_p.R131C|MYO1C_ENST00000545534.2_Missense_Mutation_p.R107C|MYO1C_ENST00000361007.2_Missense_Mutation_p.R96C|MYO1C_ENST00000438665.2_Missense_Mutation_p.R112C|MYO1C_ENST00000573198.1_5'Flank			Q12965	MYO1E_HUMAN	myosin IC	103	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGGTCCCGACGCTCCGTGCGC	0.672																																																	0								G	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	26.0	25.0	26.0		391,334,286	4.4	1.0	17		26	2,8596	2.2+/-6.3	0,2,4297	yes	missense,missense,missense	MYO1C	NM_001080779.1,NM_001080950.1,NM_033375.4	180,180,180	0,3,6499	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,probably-damaging	131/1064,112/1045,96/1029	1386310	3,13001	2203	4299	6502	SO:0001583	missense	0			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.286C>T	17.37:g.1386310G>A	ENSP00000459174:p.Arg96Cys		Q14778	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R131C	ENST00000575158.1	37	c.391	CCDS11003.1	17	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428657	0.43122	2.27E-4	2.33E-4	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.74	5.45	4.43	0.53597	Myosin head, motor domain (2);	0.098876	0.64402	D	0.000005	D	0.82770	0.5109	M	0.80183	2.485	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.994	P;P;P	0.61658	0.892;0.892;0.827	T	0.82261	-0.0545	10	0.39692	T	0.17	.	10.5968	0.45343	0.0:0.0:0.6223:0.3777	.	107;131;112	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	C	131;112;112;96;107;96	ENSP00000352834:R131C;ENSP00000412197:R112C;ENSP00000354283:R96C;ENSP00000437685:R107C	ENSP00000352834:R131C	R	-	1	0	MYO1C	1333060	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	1.200000	0.32247	2.548000	0.85928	0.462000	0.41574	CGT	MYO1C	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000197879		0.672	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	HGNC	protein_coding	OTTHUMT00000438694.2	-	0.00	55	0	G			1386310	-1	tier1	rs200048542	no_errors	ENST00000359786	ensembl	human	known	74_37	missense	28.85	37	15	SNP	1.000	A
MYO5C	55930	genome.wustl.edu	37	15	52571792	52571792	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:52571792G>A	ENST00000261839.7	-	3	379	c.218C>T	c.(217-219)aCg>aTg	p.T73M	MYO5C_ENST00000541028.1_5'UTR|MIR1266_ENST00000408125.1_RNA|MYO5C_ENST00000443683.2_De_novo_Start_OutOfFrame	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	73	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCTGAGAGCCGTGAGGTCATT	0.483																																																	0													70.0	70.0	70.0					15																	52571792		1910	4127	6037	SO:0001583	missense	0			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.218C>T	15.37:g.52571792G>A	ENSP00000261839:p.Thr73Met		Q6P1W8	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T73M	ENST00000261839.7	37	c.218	CCDS42036.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.216432	0.95104	.	.	ENSG00000128833	ENST00000261839;ENST00000541028	D	0.95518	-3.73	5.88	5.88	0.94601	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.98280	0.9430	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98645	1.0677	10	0.87932	D	0	.	20.2366	0.98359	0.0:0.0:1.0:0.0	.	36;73	F5H231;Q9NQX4	.;MYO5C_HUMAN	M	73;36	ENSP00000261839:T73M	ENSP00000261839:T73M	T	-	2	0	MYO5C	50359084	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	9.837000	0.99465	2.792000	0.96026	0.557000	0.71058	ACG	MYO5C	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000128833		0.483	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	HGNC	protein_coding	OTTHUMT00000419562.1	-	0.00	44	0	G	NM_018728		52571792	-1	tier1	-	no_errors	ENST00000261839	ensembl	human	known	74_37	missense	35.85	34	19	SNP	1.000	A
MYO6	4646	genome.wustl.edu	37	6	76591494	76591494	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:76591494G>A	ENST00000369977.3	+	23	2514	c.2375G>A	c.(2374-2376)cGc>cAc	p.R792H	MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369981.3_Missense_Mutation_p.R792H|MYO6_ENST00000369975.1_Missense_Mutation_p.R792H|MYO6_ENST00000369985.4_Missense_Mutation_p.R792H	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	792	Required for binding calmodulin. {ECO:0000250}.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ACATGCAGTCGCTGGAAGAAA	0.418																																																	0													146.0	140.0	142.0					6																	76591494		2203	4300	6503	SO:0001583	missense	0			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2375G>A	6.37:g.76591494G>A	ENSP00000358994:p.Arg792His		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.R792H	ENST00000369977.3	37	c.2375	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.460939	0.96240	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.83977	0.5371	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	D	0.84843	0.0809	10	0.56958	D	0.05	.	19.4895	0.95044	0.0:0.0:1.0:0.0	.	792;792	Q9UM54-2;Q9UM54-1	.;.	H	792	ENSP00000358998:R792H;ENSP00000359002:R792H;ENSP00000358994:R792H;ENSP00000358992:R792H	ENSP00000358992:R792H	R	+	2	0	MYO6	76648214	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.447000	0.97595	2.596000	0.87737	0.655000	0.94253	CGC	MYO6	-	superfamily_P-loop_NTPase	ENSG00000196586		0.418	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	-	0.00	118	0	G	NM_004999		76591494	+1	tier1	-	no_errors	ENST00000369981	ensembl	human	known	74_37	missense	47.57	54	49	SNP	1.000	A
MYOD1	4654	genome.wustl.edu	37	11	17741518	17741518	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:17741518G>A	ENST00000250003.3	+	1	404	c.189G>A	c.(187-189)tcG>tcA	p.S63S		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	63					cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						AAGAGCACTCGCACTTCCCCG	0.711																																																	0													21.0	23.0	22.0					11																	17741518		2199	4292	6491	SO:0001819	synonymous_variant	0			AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"""Basic helix-loop-helix proteins"""	7611	protein-coding gene	gene with protein product	"""myoblast determination protein 1"""	159970	"""myogenic factor 3"""	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.189G>A	11.37:g.17741518G>A			O75321	Silent	SNP	pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom	p.S63	ENST00000250003.3	37	c.189	CCDS7826.1	11																																																																																			MYOD1	-	pfam_Basic,smart_Basic	ENSG00000129152		0.711	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOD1	HGNC	protein_coding	OTTHUMT00000389387.1	-	0.00	28	0	G	NM_002478		17741518	+1	tier1	-	no_errors	ENST00000250003	ensembl	human	known	74_37	silent	28.57	10	4	SNP	0.801	A
MYO7A	4647	genome.wustl.edu	37	11	76901075	76901075	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:76901075A>T	ENST00000409709.3	+	29	3913	c.3641A>T	c.(3640-3642)aAc>aTc	p.N1214I	MYO7A_ENST00000409619.2_Missense_Mutation_p.N1203I|MYO7A_ENST00000458637.2_Missense_Mutation_p.N1214I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1214	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TACCTGCGGAACTTCATCCAC	0.682																																																	0													15.0	18.0	17.0					11																	76901075		1878	4043	5921	SO:0001583	missense	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3641A>T	11.37:g.76901075A>T	ENSP00000386331:p.Asn1214Ile		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.N1214I	ENST00000409709.3	37	c.3641	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	A	15.33	2.801425	0.50315	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	5.4	4.25	0.50352	MyTH4 domain (3);	0.000000	0.85682	D	0.000000	D	0.93946	0.8062	M	0.76170	2.325	0.54753	D	0.999989	B;P;B	0.48230	0.452;0.907;0.452	B;P;B	0.54270	0.315;0.747;0.315	D	0.93113	0.6518	10	0.52906	T	0.07	.	12.4466	0.55654	0.8597:0.1403:0.0:0.0	.	1203;1214;1214	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	I	1214;1214;1203;425;1213;1183;1090;395	ENSP00000386331:N1214I;ENSP00000392185:N1214I;ENSP00000386635:N1203I;ENSP00000417017:N395I	ENSP00000345075:N1090I	N	+	2	0	MYO7A	76578723	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.856000	0.39389	0.872000	0.35775	0.523000	0.50628	AAC	MYO7A	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom	ENSG00000137474		0.682	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	-	0.00	90	0	A	NM_000260		76901075	+1	tier1	-	no_errors	ENST00000409709	ensembl	human	known	74_37	missense	28.81	42	17	SNP	1.000	T
MYOM1	8736	genome.wustl.edu	37	18	3135553	3135554	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:3135553_3135554insC	ENST00000356443.4	-	15	2533_2534	c.2200_2201insG	c.(2200-2202)gacfs	p.D734fs	MYOM1_ENST00000400569.3_Frame_Shift_Ins_p.D734fs|MYOM1_ENST00000261606.7_Frame_Shift_Ins_p.D734fs	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	734	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACCAAGTTTGTCCCCTACCACA	0.446																																																	0																																										SO:0001589	frameshift_variant	0			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2201dupG	18.37:g.3135557_3135557dupC	ENSP00000348821:p.Asp734fs		Q14BD6|Q6H969|Q6ZUU0	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D734fs	ENST00000356443.4	37	c.2201_2200	CCDS45824.1	18																																																																																			MYOM1	-	superfamily_Fibronectin_type3	ENSG00000101605		0.446	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2		0.00	27	0	-	NM_003803		3135554	-1	tier1		no_errors	ENST00000356443	ensembl	human	known	74_37	frame_shift_ins	33.33	16	8	INS	1.000:1.000	C
MYOM2	9172	genome.wustl.edu	37	8	2044147	2044147	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:2044147T>C	ENST00000262113.4	+	18	2327	c.2186T>C	c.(2185-2187)cTc>cCc	p.L729P	MYOM2_ENST00000523438.1_Missense_Mutation_p.L154P	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	729	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.L729H(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCCATGACCCTCGGCTGGAAG	0.572																																																	1	Substitution - Missense(1)	lung(1)											125.0	111.0	116.0					8																	2044147		2203	4300	6503	SO:0001583	missense	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2186T>C	8.37:g.2044147T>C	ENSP00000262113:p.Leu729Pro		Q7Z3Y2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L729P	ENST00000262113.4	37	c.2186	CCDS5957.1	8	.	.	.	.	.	.	.	.	.	.	T	21.7	4.192610	0.78902	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.66995	-0.24;-0.24	5.47	5.47	0.80525	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.88153	0.6360	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.92367	0.5902	10	0.87932	D	0	.	15.5476	0.76118	0.0:0.0:0.0:1.0	.	729	P54296	MYOM2_HUMAN	P	729;154	ENSP00000262113:L729P;ENSP00000428396:L154P	ENSP00000262113:L729P	L	+	2	0	MYOM2	2031554	1.000000	0.71417	0.954000	0.39281	0.738000	0.42128	7.355000	0.79434	2.071000	0.62044	0.459000	0.35465	CTC	MYOM2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000036448		0.572	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1	-	0.00	69	0	T	NM_003970		2044147	+1	tier1	-	no_errors	ENST00000262113	ensembl	human	known	74_37	missense	38.83	63	40	SNP	0.996	C
MYOM2	9172	genome.wustl.edu	37	8	2088683	2088683	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:2088683delG	ENST00000262113.4	+	33	3979	c.3838delG	c.(3838-3840)gggfs	p.G1281fs	MYOM2_ENST00000523438.1_Frame_Shift_Del_p.G706fs|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1281					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TATGAGAATCGGGGGGAGTGA	0.448																																																	0													111.0	109.0	109.0					8																	2088683		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.3838delG	8.37:g.2088683delG	ENSP00000262113:p.Gly1281fs		Q7Z3Y2	Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1282fs	ENST00000262113.4	37	c.3838	CCDS5957.1	8																																																																																			MYOM2	-	NULL	ENSG00000036448		0.448	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOM2	HGNC	protein_coding	OTTHUMT00000251249.1		0.00	42	0	G	NM_003970		2088683	+1	tier1		no_errors	ENST00000262113	ensembl	human	known	74_37	frame_shift_del	20.37	43	11	DEL	1.000	-
MYRF	745	genome.wustl.edu	37	11	61539013	61539013	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:61539013delC	ENST00000278836.5	+	6	878	c.782delC	c.(781-783)tccfs	p.S261fs	MYRF_ENST00000265460.5_Frame_Shift_Del_p.S252fs|MYRF_ENST00000327797.1_5'Flank|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	261	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S255fs*74(1)									CACTCTGAATCCCCCCCCAGC	0.637																																																	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)											75.0	84.0	81.0					11																	61539013		2202	4299	6501	SO:0001589	frameshift_variant	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.782delC	11.37:g.61539013delC	ENSP00000278836:p.Ser261fs		O43582|Q9P1Q6	Frame_Shift_Del	DEL	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.S264fs	ENST00000278836.5	37	c.782	CCDS44622.1	11																																																																																			MYRF	-	NULL	ENSG00000124920		0.637	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYRF	HGNC	protein_coding	OTTHUMT00000398519.2		0.00	70	0	C	NM_013279		61539013	+1	tier1		no_errors	ENST00000278836	ensembl	human	known	74_37	frame_shift_del	49.09	28	27	DEL	1.000	-
NAA25	80018	genome.wustl.edu	37	12	112486138	112486138	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:112486138C>T	ENST00000261745.4	-	16	2086	c.1838G>A	c.(1837-1839)cGt>cAt	p.R613H		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	613						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CCGTTCAGTACGGACTTGTGC	0.368																																																	0													113.0	104.0	107.0					12																	112486138		2203	4300	6503	SO:0001583	missense	0			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1838G>A	12.37:g.112486138C>T	ENSP00000261745:p.Arg613His		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.R613H	ENST00000261745.4	37	c.1838	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782232	0.90282	.	.	ENSG00000111300	ENST00000261745	T	0.46063	0.88	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.61311	0.2337	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.68621	0.959;0.945	T	0.54853	-0.8231	10	0.31617	T	0.26	-9.7102	19.5841	0.95484	0.0:1.0:0.0:0.0	.	613;613	A8K8X0;Q14CX7	.;NAA25_HUMAN	H	613	ENSP00000261745:R613H	ENSP00000261745:R613H	R	-	2	0	NAA25	110970521	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.604000	0.88044	0.655000	0.94253	CGT	NAA25	-	pfam_N-acetylTrfase_B_cplx_non-cat	ENSG00000111300		0.368	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	-	0.00	38	0	C	NM_024953		112486138	-1	tier1	-	no_errors	ENST00000261745	ensembl	human	known	74_37	missense	47.83	24	22	SNP	1.000	T
NADK	65220	genome.wustl.edu	37	1	1688163	1688163	+	Intron	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:1688163delC	ENST00000341426.5	-	5	615				NADK_ENST00000342348.5_Intron|NADK_ENST00000492768.1_5'UTR|NADK_ENST00000378625.1_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000344463.4_Intron	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase						ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		tgcatgcccgcccccccacgc	0.632																																																	0																																										SO:0001627	intron_variant	0			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.394-116G>-	1.37:g.1688163delC			A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	RNA	DEL	-	NULL	ENST00000341426.5	37	NULL	CCDS30565.1	1																																																																																			NADK	-	-	ENSG00000008130		0.632	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NADK	HGNC	protein_coding	OTTHUMT00000002769.1		0.00	22	0	C	NM_023018		1688163	-1	tier1		no_errors	ENST00000492768	ensembl	human	known	74_37	rna	46.43	15	13	DEL	0.000	-
NALCN	259232	genome.wustl.edu	37	13	101742266	101742266	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:101742266C>T	ENST00000251127.6	-	29	3402	c.3321G>A	c.(3319-3321)gcG>gcA	p.A1107A		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1107					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTCAAACAACGCCAGCATAG	0.463																																																	0													256.0	265.0	262.0					13																	101742266		2203	4300	6503	SO:0001819	synonymous_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3321G>A	13.37:g.101742266C>T			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.A1107	ENST00000251127.6	37	c.3321	CCDS9498.1	13																																																																																			NALCN	-	pfam_Ion_trans_dom	ENSG00000102452		0.463	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0.00	47	0	C	NM_052867		101742266	-1	tier1	-	no_errors	ENST00000251127	ensembl	human	known	74_37	silent	24.07	41	13	SNP	0.066	T
NALCN	259232	genome.wustl.edu	37	13	101763504	101763504	+	Missense_Mutation	SNP	C	C	T	rs149203278	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:101763504C>T	ENST00000251127.6	-	19	2347	c.2266G>A	c.(2266-2268)Gtg>Atg	p.V756M		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	756					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGATGCTGCACGCTGAGGATT	0.512																																																	0								C	MET/VAL	5,4401	9.9+/-24.2	0,5,2198	164.0	155.0	158.0		2266	5.6	1.0	13	dbSNP_134	158	0,8600		0,0,4300	yes	missense	NALCN	NM_052867.2	21	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	benign	756/1739	101763504	5,13001	2203	4300	6503	SO:0001583	missense	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2266G>A	13.37:g.101763504C>T	ENSP00000251127:p.Val756Met		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.V756M	ENST00000251127.6	37	c.2266	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567441	0.86439	0.001135	0.0	ENSG00000102452	ENST00000251127	D	0.97665	-4.48	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.95503	0.8539	N	0.22421	0.69	0.80722	D	1	D	0.69078	0.997	P	0.50162	0.633	D	0.95414	0.8501	10	0.45353	T	0.12	.	19.518	0.95171	0.0:1.0:0.0:0.0	.	756	Q8IZF0	NALCN_HUMAN	M	756	ENSP00000251127:V756M	ENSP00000251127:V756M	V	-	1	0	NALCN	100561505	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.298000	0.78815	2.615000	0.88500	0.650000	0.86243	GTG	NALCN	-	NULL	ENSG00000102452		0.512	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0.00	81	0	C	NM_052867		101763504	-1	tier1	rs149203278	no_errors	ENST00000251127	ensembl	human	known	74_37	missense	18.42	62	14	SNP	1.000	T
NAMPT	10135	genome.wustl.edu	37	7	105909653	105909653	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:105909653C>A	ENST00000222553.3	-	5	860	c.553G>T	c.(553-555)Ggt>Tgt	p.G185C	NAMPT_ENST00000484527.1_5'UTR|NAMPT_ENST00000354289.4_Missense_Mutation_p.G185C	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	185					cell-cell signaling (GO:0007267)|circadian regulation of gene expression (GO:0032922)|NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|nicotinamide metabolic process (GO:0006769)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|nicotinamide phosphoribosyltransferase activity (GO:0047280)|nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TATTCCAGACCATCTAAGTTA	0.378																																																	0													60.0	58.0	59.0					7																	105909653		2203	4296	6499	SO:0001583	missense	0			U02020	CCDS5737.1	7q22.3	2012-10-02	2008-03-27	2008-03-27	ENSG00000105835	ENSG00000105835			30092	protein-coding gene	gene with protein product	"""visfatin"""	608764	"""pre-B-cell colony enhancing factor 1"""	PBEF1		8289818	Standard	NM_005746		Approved	PBEF	uc003vdq.3	P43490	OTTHUMG00000140388	ENST00000222553.3:c.553G>T	7.37:g.105909653C>A	ENSP00000222553:p.Gly185Cys		A4D0Q9|A4D0R0|Q3KQV0|Q8WW95	Missense_Mutation	SNP	pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase	p.G185C	ENST00000222553.3	37	c.553	CCDS5737.1	7	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625312	0.66901	.	.	ENSG00000105835	ENST00000222553;ENST00000354289	.	.	.	4.97	4.08	0.47627	Quinolinate phosphoribosyl transferase, C-terminal (1);	0.334157	0.34652	N	0.003786	T	0.79730	0.4496	M	0.89214	3.015	0.50313	D	0.999868	D;D;D	0.69078	0.997;0.996;0.993	P;P;P	0.61328	0.848;0.887;0.786	T	0.82764	-0.0296	9	0.42905	T	0.14	-19.6525	15.6104	0.76713	0.0:0.8616:0.1384:0.0	.	98;166;185	B7Z8W6;Q5SYT8;P43490	.;.;NAMPT_HUMAN	C	185	.	ENSP00000222553:G185C	G	-	1	0	NAMPT	105696889	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.260000	0.51523	1.186000	0.42985	0.650000	0.86243	GGT	NAMPT	-	superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase	ENSG00000105835		0.378	NAMPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAMPT	HGNC	protein_coding	OTTHUMT00000277146.1	-	0.00	75	0	C	NM_182790		105909653	-1	tier1	-	no_errors	ENST00000222553	ensembl	human	known	74_37	missense	20.90	53	14	SNP	1.000	A
NAPB	63908	genome.wustl.edu	37	20	23360531	23360531	+	Silent	SNP	A	A	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:23360531A>C	ENST00000377026.4	-	9	793	c.708T>G	c.(706-708)acT>acG	p.T236T	NAPB_ENST00000432543.2_Silent_p.T197T|NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000398425.3_Silent_p.T142T|RNA5SP479_ENST00000364858.1_RNA	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	236					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CTCTTGAATCAGTAAATGCTG	0.328																																																	0													51.0	54.0	53.0					20																	23360531		2202	4297	6499	SO:0001819	synonymous_variant	0			AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.708T>G	20.37:g.23360531A>C			B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Silent	SNP	prints_NSF_attach	p.T236	ENST00000377026.4	37	c.708	CCDS13152.1	20																																																																																			NAPB	-	prints_NSF_attach	ENSG00000125814		0.328	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPB	HGNC	protein_coding	OTTHUMT00000078317.2	-	0.00	22	0	A	NM_022080		23360531	-1	tier1	-	no_errors	ENST00000377026	ensembl	human	known	74_37	silent	19.05	17	4	SNP	0.996	C
NR1H2	7376	genome.wustl.edu	37	19	50837602	50837602	+	Intron	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:50837602delC	ENST00000600978.1	+	2	74				NR1H2_ENST00000542413.1_Intron|NAPSB_ENST00000527780.1_RNA|KCNC3_ENST00000474951.1_5'Flank|KCNC3_ENST00000391818.2_5'Flank			P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2						cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V333fs*4(1)		endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TTAAACCAGACCCCCCCAATG	0.527																																																	1	Insertion - Frameshift(1)	large_intestine(1)																																								SO:0001627	intron_variant	0			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000600978.1:c.75-3657C>-	19.37:g.50837602delC			A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	RNA	DEL	-	NULL	ENST00000600978.1	37	NULL		19																																																																																			NAPSB	-	-	ENSG00000131401		0.527	NR1H2-012	KNOWN	basic	processed_transcript	NAPSB	HGNC	protein_coding	OTTHUMT00000464783.1		0.00	78	0	C			50837602	-1	tier1		no_errors	ENST00000527780	ensembl	human	known	74_37	rna	41.25	47	33	DEL	0.853	-
NAV2	89797	genome.wustl.edu	37	11	19735426	19735426	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:19735426T>G	ENST00000396087.3	+	1	284	c.185T>G	c.(184-186)gTg>gGg	p.V62G	NAV2_ENST00000360655.4_Intron|NAV2_ENST00000349880.4_Missense_Mutation_p.V62G|RP11-359E10.1_ENST00000603468.1_lincRNA|NAV2_ENST00000396085.1_Missense_Mutation_p.V62G	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	62					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.V62A(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AAATCGCAGGTGCTGCAGGGG	0.662																																																	1	Substitution - Missense(1)	large_intestine(1)											27.0	30.0	29.0					11																	19735426		2198	4293	6491	SO:0001583	missense	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.185T>G	11.37:g.19735426T>G	ENSP00000379396:p.Val62Gly		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.V62G	ENST00000396087.3	37	c.185	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	T	9.018	0.984077	0.18889	.	.	ENSG00000166833	ENST00000396085;ENST00000349880;ENST00000396087	T;T;T	0.59638	0.25;0.25;0.25	0.427	-0.748	0.11087	.	.	.	.	.	T	0.27454	0.0674	N	0.08118	0	0.58432	D	0.999999	B	0.29955	0.263	B	0.17722	0.019	T	0.05402	-1.0887	7	.	.	.	.	.	.	.	.	62	Q8IVL1-3	.	G	62	ENSP00000379394:V62G;ENSP00000309577:V62G;ENSP00000379396:V62G	.	V	+	2	0	NAV2	19692002	0.098000	0.21812	0.973000	0.42090	0.955000	0.61496	-0.691000	0.05133	-0.455000	0.07054	-0.456000	0.05471	GTG	NAV2	-	superfamily_CH-domain	ENSG00000166833		0.662	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	-	0.00	63	0	T	NM_145117		19735426	+1	tier1	-	no_errors	ENST00000396087	ensembl	human	known	74_37	missense	46.94	26	23	SNP	0.964	G
NAT10	55226	genome.wustl.edu	37	11	34158541	34158541	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:34158541G>T	ENST00000257829.3	+	21	2385	c.2179G>T	c.(2179-2181)Gga>Tga	p.G727*	NAT10_ENST00000531159.2_Nonsense_Mutation_p.G655*|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	727	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.|Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)	p.G727*(1)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GAAACGAGCTGGATTTGTTCC	0.512																																																	1	Substitution - Nonsense(1)	lung(1)											138.0	125.0	129.0					11																	34158541		2202	4298	6500	SO:0001587	stop_gained	0			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2179G>T	11.37:g.34158541G>T	ENSP00000257829:p.Gly727*		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Nonsense_Mutation	SNP	pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GNAT_dom	p.G727*	ENST00000257829.3	37	c.2179	CCDS7889.1	11	.	.	.	.	.	.	.	.	.	.	G	41	8.702101	0.98920	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-17.252	18.4653	0.90752	0.0:0.0:1.0:0.0	.	.	.	.	X	727;655	.	ENSP00000257829:G727X	G	+	1	0	NAT10	34115117	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.651000	0.98493	2.346000	0.79739	0.561000	0.74099	GGA	NAT10	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000135372		0.512	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT10	HGNC	protein_coding	OTTHUMT00000388693.1	-	0.00	82	0	G	NM_024662		34158541	+1	tier1	-	no_errors	ENST00000257829	ensembl	human	known	74_37	nonsense	6.94	67	5	SNP	1.000	T
NBEA	26960	genome.wustl.edu	37	13	36026232	36026232	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:36026232C>T	ENST00000400445.3	+	40	6842	c.6308C>T	c.(6307-6309)aCg>aTg	p.T2103M	NBEA_ENST00000379939.2_Missense_Mutation_p.T2100M|NBEA_ENST00000540320.1_Missense_Mutation_p.T2103M|NBEA_ENST00000310336.4_Missense_Mutation_p.T2103M	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2103					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGATTAGGCACGGAAGAAGAT	0.308																																																	0													75.0	70.0	71.0					13																	36026232		1864	4090	5954	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6308C>T	13.37:g.36026232C>T	ENSP00000383295:p.Thr2103Met		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.T2103M	ENST00000400445.3	37	c.6308	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409523	0.42715	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.45	5.45	0.79879	Domain of unknown function DUF1088 (1);	1.356650	0.04269	N	0.341734	T	0.49133	0.1539	N	0.14661	0.345	0.80722	D	1	D;P	0.57571	0.98;0.939	P;P	0.53809	0.677;0.735	T	0.49943	-0.8885	10	0.59425	D	0.04	.	19.2813	0.94053	0.0:1.0:0.0:0.0	.	2103;2100	Q8NFP9;Q5T321	NBEA_HUMAN;.	M	2103;2103;2100;2103;730	ENSP00000440951:T2103M;ENSP00000383295:T2103M;ENSP00000369271:T2100M;ENSP00000308534:T2103M	ENSP00000308534:T2103M	T	+	2	0	NBEA	34924232	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	3.714000	0.54889	2.542000	0.85734	0.655000	0.94253	ACG	NBEA	-	pfam_DUF1088	ENSG00000172915		0.308	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0.00	25	0	C	NM_015678		36026232	+1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	60.00	10	15	SNP	1.000	T
NBEAL2	23218	genome.wustl.edu	37	3	47041439	47041439	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:47041439T>A	ENST00000450053.3	+	27	4029	c.3850T>A	c.(3850-3852)Tgg>Agg	p.W1284R	NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1284					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.W1284R(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACAGGCTGGCTGGCAAGATGT	0.632																																																	1	Substitution - Missense(1)	large_intestine(1)											25.0	30.0	29.0					3																	47041439		2180	4281	6461	SO:0001583	missense	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.3850T>A	3.37:g.47041439T>A	ENSP00000415034:p.Trp1284Arg		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W1284R	ENST00000450053.3	37	c.3850	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	T	19.90	3.913134	0.72983	.	.	ENSG00000160796	ENST00000450053	T	0.72835	-0.69	5.5	5.5	0.81552	.	.	.	.	.	T	0.80899	0.4712	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.82983	-0.0186	9	0.87932	D	0	.	13.5512	0.61734	0.0:0.0:0.0:1.0	.	1284	Q6ZNJ1	NBEL2_HUMAN	R	1284	ENSP00000415034:W1284R	ENSP00000415034:W1284R	W	+	1	0	NBEAL2	47016443	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	7.831000	0.86748	2.085000	0.62840	0.459000	0.35465	TGG	NBEAL2	-	NULL	ENSG00000160796		0.632	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	-	0.00	42	0	T	XM_291064		47041439	+1	tier1	-	no_errors	ENST00000450053	ensembl	human	known	74_37	missense	50.00	14	14	SNP	1.000	A
NBN	4683	genome.wustl.edu	37	8	90965666	90965666	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:90965666delT	ENST00000265433.3	-	11	1805	c.1651delA	c.(1651-1653)aggfs	p.R551fs	NBN_ENST00000409330.1_Frame_Shift_Del_p.R469fs	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	551					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCCATTTCCCTTTTTTTATTT	0.323								Homologous recombination																																									0													235.0	229.0	231.0					8																	90965666		2203	4299	6502	SO:0001589	frameshift_variant	0			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1651delA	8.37:g.90965666delT	ENSP00000265433:p.Arg551fs		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Frame_Shift_Del	DEL	pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom	p.R551fs	ENST00000265433.3	37	c.1651	CCDS6249.1	8																																																																																			NBN	-	pirsf_Nibrin_met	ENSG00000104320		0.323	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBN	HGNC	protein_coding	OTTHUMT00000331583.3		0.00	72	0	T	NM_001024688		90965666	-1			no_errors	ENST00000265433	ensembl	human	known	74_37	frame_shift_del	5.70	149	9	DEL	1.000	0
NBPF10	100132406	genome.wustl.edu	37	1	145367737	145367737	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:145367737delA	ENST00000342960.5	+	83	10368	c.10333delA	c.(10333-10335)aaafs	p.K3446fs	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggggaaggggaaaaaaagaag	0.413																																																	0																																										SO:0001589	frameshift_variant	0			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10333delA	1.37:g.145367737delA	ENSP00000345684:p.Lys3446fs		Q5RHC0|Q9NWN6	Frame_Shift_Del	DEL	pfam_NBPF_dom	p.R3447fs	ENST00000342960.5	37	c.10333	CCDS53355.1	1																																																																																			NBPF10	-	NULL	ENSG00000163386		0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF10	HGNC	protein_coding			0.00	86	0	A	NM_001039703		145367737	+1	tier1		no_errors	ENST00000342960	ensembl	human	known	74_37	frame_shift_del	14.07	116	19	DEL	0.003	-
NBPF14	25832	genome.wustl.edu	37	1	148010136	148010136	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:148010136T>G	ENST00000369219.1	-	15	1783	c.1767A>C	c.(1765-1767)gaA>gaC	p.E589D				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	589	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GGTCTTGGTCTTCTTCCACTT	0.418																																																	0													43.0	82.0	71.0					1																	148010136		840	2170	3010	SO:0001583	missense	0			AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1767A>C	1.37:g.148010136T>G	ENSP00000358221:p.Glu589Asp		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	pfam_NBPF_dom	p.E589D	ENST00000369219.1	37	c.1767		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	9.598|9.598	1.127953|1.127953	0.20959|0.20959	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219;ENST00000369368|ENST00000310701;ENST00000444640	T|.	0.14640|.	2.49|.	0.253|0.253	0.253|0.253	0.15551|0.15551	DUF1220 (2);|.	.|.	.|.	.|.	.|.	T|T	0.24044|0.24044	0.0582|0.0582	L|L	0.59436|0.59436	1.845|1.845	0.09310|0.09310	N|N	1|1	B;B;D;P|.	0.67145|.	0.44;0.44;0.996;0.543|.	P;P;D;B|.	0.66847|.	0.523;0.523;0.947;0.306|.	T|T	0.25572|0.25572	-1.0128|-1.0128	8|4	0.35671|.	T|.	0.21|.	.|.	.|.	.|.	.|.	.|.	703;589;610;116|.	Q8IX74;Q5TI25;Q5VTG7;Q8IX75|.	.;NBPFE_HUMAN;.;.|.	D|T	589;12|595;356	ENSP00000358221:E589D|.	ENSP00000358221:E589D|.	E|K	-|-	3|2	2|0	NBPF14|NBPF14	146476760|146476760	0.994000|0.994000	0.37717|0.37717	0.006000|0.006000	0.13384|0.13384	0.006000|0.006000	0.05464|0.05464	0.661000|0.661000	0.25023|0.25023	0.324000|0.324000	0.23333|0.23333	0.318000|0.318000	0.21364|0.21364	GAA|AAG	NBPF14	-	pfam_NBPF_dom	ENSG00000122497		0.418	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	NBPF14	HGNC	protein_coding			0.00	76	0	T	NM_015383		148010136	-1			no_errors	ENST00000369219	ensembl	human	known	74_37	missense	5.88	80	5	SNP	0.007	G
NBPF3	84224	genome.wustl.edu	37	1	21809667	21809667	+	Missense_Mutation	SNP	C	C	G	rs139757131	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:21809667C>G	ENST00000318249.5	+	15	2040	c.1690C>G	c.(1690-1692)Cct>Gct	p.P564A	NBPF3_ENST00000454000.2_Missense_Mutation_p.P494A|NBPF3_ENST00000342104.5_Missense_Mutation_p.P552A|NBPF3_ENST00000318220.6_Missense_Mutation_p.P508A	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	564	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.			P -> A (in Ref. 5; CAD38998). {ECO:0000305}.		cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCAGAAGAGCCTGAAGTCTT	0.448													.|||	76	0.0151757	0.0015	0.0216	5008	,	,		16291	0.0		0.0358	False		,,,				2504	0.0235																0								C	ALA/PRO	19,4013		0,19,1997	51.0	52.0	52.0		1690	-2.1	0.0	1	dbSNP_134	52	295,7459		2,291,3584	no	missense	NBPF3	NM_032264.2	27	2,310,5581	GG,GC,CC		3.8045,0.4712,2.6642	benign	564/634	21809667	314,11472	2016	3877	5893	SO:0001583	missense	0			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1690C>G	1.37:g.21809667C>G	ENSP00000316782:p.Pro564Ala		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	pfam_NBPF_dom	p.P564A	ENST00000318249.5	37	c.1690	CCDS216.1	1	.	.	.	.	.	.	.	.	.	.	.	3.585	-0.084731	0.07097	0.004712	0.038045	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.07688	3.17;3.17;3.17;3.17;3.17	1.03	-2.07	0.07276	DUF1220 (2);	.	.	.	.	T	0.04543	0.0124	M	0.79475	2.455	0.09310	N	1	P;P;D	0.62365	0.64;0.504;0.991	B;B;D	0.66602	0.334;0.104;0.945	T	0.06110	-1.0845	9	0.56958	D	0.05	.	2.2868	0.04128	0.4235:0.3281:0.2484:0.0	.	494;552;564	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	A	494;508;564;552;508	ENSP00000415711:P494A;ENSP00000316739:P508A;ENSP00000316782:P564A;ENSP00000340336:P552A;ENSP00000391865:P508A	ENSP00000316739:P508A	P	+	1	0	NBPF3	21682254	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.521000	0.02239	-0.652000	0.05408	-0.746000	0.03513	CCT	NBPF3	-	pfam_NBPF_dom	ENSG00000142794		0.448	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBPF3	HGNC	protein_coding		-	0.00	63	0	C	NM_032264		21809667	+1	tier1	rs139757131	no_errors	ENST00000318249	ensembl	human	known	74_37	missense	23.61	55	17	SNP	0.000	G
NBPF18P	441908	genome.wustl.edu	37	1	151991293	151991293	+	RNA	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:151991293C>T	ENST00000432386.1	+	0	2357					NR_103561.1				neuroblastoma breakpoint family, member 18, pseudogene																		TAATTCCTGGCCAACCAGCAG	0.433																																																	0																																												0					1q21.3	2013-01-17	2011-04-15			ENSG00000229021		"""neuroblastoma breakpoint family"""	31998	pseudogene	pseudogene						16079250	Standard	NR_103561		Approved						1.37:g.151991293C>T				RNA	SNP	-	NULL	ENST00000432386.1	37	NULL		1																																																																																			NBPF18P	-	-	ENSG00000229021		0.433	NBPF18P-001	KNOWN	basic	antisense	NBPF18P	HGNC	antisense	OTTHUMT00000036629.1	-	0.00	109	0	C			151991293	+1	tier1	-	no_errors	ENST00000432386	ensembl	human	known	74_37	rna	34.19	77	40	SNP	0.056	T
NCAM2	4685	genome.wustl.edu	37	21	22881230	22881230	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:22881230G>A	ENST00000400546.1	+	16	2385	c.2136G>A	c.(2134-2136)ctG>ctA	p.L712L	NCAM2_ENST00000284894.7_Silent_p.L570L	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	712					axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TTGCTGCACTGCTGCTAATTC	0.388																																																	0													94.0	89.0	91.0					21																	22881230		1970	4159	6129	SO:0001819	synonymous_variant	0				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2136G>A	21.37:g.22881230G>A			A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh	p.L712	ENST00000400546.1	37	c.2136	CCDS42910.1	21																																																																																			NCAM2	-	NULL	ENSG00000154654		0.388	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	-	0.00	66	0	G	NM_004540		22881230	+1	tier1	-	no_errors	ENST00000400546	ensembl	human	known	74_37	silent	27.42	45	17	SNP	0.176	A
NCAPD2	9918	genome.wustl.edu	37	12	6630171	6630171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:6630171C>T	ENST00000315579.5	+	14	2408	c.1609C>T	c.(1609-1611)Cga>Tga	p.R537*	NCAPD2_ENST00000545962.1_Nonsense_Mutation_p.R492*	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	537	Interactions with SMC2 and SMC4.				mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CATTCTCACTCGAGAAGCCAC	0.483																																																	0													63.0	62.0	62.0					12																	6630171		2203	4300	6503	SO:0001587	stop_gained	0			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1609C>T	12.37:g.6630171C>T	ENSP00000325017:p.Arg537*		D3DUR4|Q8N6U3	Nonsense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.R537*	ENST00000315579.5	37	c.1609	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.078401	0.98048	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	.	.	.	5.5	5.5	0.81552	.	0.805508	0.11929	N	0.515875	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-1.0547	19.5944	0.95530	0.0:1.0:0.0:0.0	.	.	.	.	X	537;409;492;409	.	ENSP00000325017:R537X	R	+	1	2	NCAPD2	6500432	0.016000	0.18221	0.230000	0.23976	0.622000	0.37654	1.620000	0.36976	2.868000	0.98415	0.555000	0.69702	CGA	NCAPD2	-	superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	ENSG00000010292		0.483	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	-	0.00	42	0	C	NM_014865		6630171	+1	tier1	-	no_errors	ENST00000315579	ensembl	human	known	74_37	nonsense	25.81	46	16	SNP	0.719	T
NCAPD3	23310	genome.wustl.edu	37	11	134048586	134048586	+	Frame_Shift_Del	DEL	G	G	-	rs138442478		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:134048586delG	ENST00000534548.2	-	22	2789	c.2725delC	c.(2725-2727)cagfs	p.Q909fs	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	909					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)	p.Q909fs*12(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCTCTGACCTGGGGGGGTGGC	0.522																																																	1	Insertion - Frameshift(1)	large_intestine(1)											91.0	93.0	93.0					11																	134048586		2201	4297	6498	SO:0001589	frameshift_variant	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2725delC	11.37:g.134048586delG	ENSP00000433681:p.Gln909fs		A6NFS2|Q4KMQ9	Frame_Shift_Del	DEL	superfamily_ARM-type_fold,pirsf_NCAPD3	p.Q909fs	ENST00000534548.2	37	c.2725	CCDS31723.1	11																																																																																			NCAPD3	-	superfamily_ARM-type_fold,pirsf_NCAPD3	ENSG00000151503		0.522	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	HGNC	protein_coding	OTTHUMT00000393575.2		0.00	54	0	G	NM_015261		134048586	-1	tier1		no_errors	ENST00000534548	ensembl	human	known	74_37	frame_shift_del	49.23	33	32	DEL	1.000	-
NCAPG2	54892	genome.wustl.edu	37	7	158483385	158483385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:158483385G>A	ENST00000409423.1	-	6	584	c.412C>T	c.(412-414)Cga>Tga	p.R138*	NCAPG2_ENST00000356309.3_Nonsense_Mutation_p.R138*|NCAPG2_ENST00000479022.1_5'Flank|NCAPG2_ENST00000275830.10_5'Flank|NCAPG2_ENST00000409339.3_Nonsense_Mutation_p.R138*|NCAPG2_ENST00000449727.2_Nonsense_Mutation_p.R138*	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	138					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TGTAGTTTTCGTTCAGACTCA	0.388																																																	0													111.0	102.0	105.0					7																	158483385		1869	4099	5968	SO:0001587	stop_gained	0			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.412C>T	7.37:g.158483385G>A	ENSP00000386569:p.Arg138*		A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Nonsense_Mutation	SNP	pfam_Condensin2_G2,superfamily_ARM-type_fold	p.R138*	ENST00000409423.1	37	c.412	CCDS43686.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.457918	0.97581	.	.	ENSG00000146918	ENST00000356309;ENST00000409423;ENST00000409339;ENST00000449727	.	.	.	5.12	0.146	0.14833	.	1.769590	0.02542	N	0.094728	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-0.0238	4.0035	0.09590	0.085:0.1162:0.2471:0.5518	.	.	.	.	X	138	.	ENSP00000348657:R138X	R	-	1	2	NCAPG2	158176146	0.228000	0.23718	0.002000	0.10522	0.946000	0.59487	0.613000	0.24299	0.203000	0.20529	0.585000	0.79938	CGA	NCAPG2	-	superfamily_ARM-type_fold	ENSG00000146918		0.388	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCAPG2	HGNC	protein_coding	OTTHUMT00000327111.1	-	0.00	43	0	G	NM_017760		158483385	-1	tier1	-	no_errors	ENST00000409339	ensembl	human	known	74_37	nonsense	34.69	32	17	SNP	0.004	A
NCEH1	57552	genome.wustl.edu	37	3	172365826	172365826	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:172365826delT	ENST00000475381.1	-	2	450	c.217delA	c.(217-219)agcfs	p.S73fs	NCEH1_ENST00000538775.1_Frame_Shift_Del_p.S105fs|NCEH1_ENST00000273512.3_Frame_Shift_Del_p.S105fs|NCEH1_ENST00000543711.1_Intron			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	73					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GACCACGCGCTTTTTTTGCCA	0.507																																																	0													78.0	76.0	77.0					3																	172365826		2203	4300	6503	SO:0001589	frameshift_variant	0			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.217delA	3.37:g.172365826delT	ENSP00000418571:p.Ser73fs		B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Frame_Shift_Del	DEL	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.S105fs	ENST00000475381.1	37	c.313		3																																																																																			NCEH1	-	pirsf_Arylacetamide_deacetylase	ENSG00000144959		0.507	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	NCEH1	HGNC	protein_coding	OTTHUMT00000346367.3		0.00	27	0	T	NM_020792		172365826	-1	tier1		no_errors	ENST00000538775	ensembl	human	known	74_37	frame_shift_del	40.00	9	6	DEL	0.989	-
NCL	4691	genome.wustl.edu	37	2	232326561	232326561	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:232326561G>T	ENST00000322723.4	-	3	543	c.303C>A	c.(301-303)gcC>gcA	p.A101A	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	101	8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.A101A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TAACTGCTTTGGCTGGTGTAA	0.537																																																	1	Substitution - coding silent(1)	endometrium(1)											227.0	207.0	214.0					2																	232326561		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.303C>A	2.37:g.232326561G>T			Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.A101	ENST00000322723.4	37	c.303	CCDS33397.1	2																																																																																			NCL	-	NULL	ENSG00000115053		0.537	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1	-	0.00	227	0	G	NM_005381		232326561	-1	tier1	-	no_errors	ENST00000322723	ensembl	human	known	74_37	silent	7.74	143	12	SNP	1.000	T
NCOA6	23054	genome.wustl.edu	37	20	33346694	33346694	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:33346694delG	ENST00000374796.2	-	7	3127	c.557delC	c.(556-558)ccgfs	p.P186fs	NCOA6_ENST00000359003.2_Frame_Shift_Del_p.P186fs			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	186	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATTTCCACCCGGGGGTATCAT	0.453																																																	0													89.0	90.0	89.0					20																	33346694		2203	4300	6503	SO:0001589	frameshift_variant	0			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.557delC	20.37:g.33346694delG	ENSP00000363929:p.Pro186fs		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Frame_Shift_Del	DEL	NULL	p.P186fs	ENST00000374796.2	37	c.557	CCDS13241.1	20																																																																																			NCOA6	-	NULL	ENSG00000198646		0.453	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2		0.00	45	0	G	NM_014071		33346694	-1	tier1		no_errors	ENST00000359003	ensembl	human	known	74_37	frame_shift_del	23.08	30	9	DEL	0.996	-
NCOA3	8202	genome.wustl.edu	37	20	46279857	46279857	+	Silent	SNP	G	G	A	rs561036149	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:46279857G>A	ENST00000371998.3	+	20	3974	c.3783G>A	c.(3781-3783)caG>caA	p.Q1261Q	NCOA3_ENST00000372004.3_Silent_p.Q1257Q|NCOA3_ENST00000371997.3_Silent_p.Q1252Q|NCOA3_ENST00000341724.6_Silent_p.Q1187Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1261	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcagcaac	0.572													G|||	3	0.000599042	0.0008	0.0	5008	,	,		14246	0.0		0.0	False		,,,				2504	0.002																0													50.0	54.0	53.0					20																	46279857		2203	4300	6503	SO:0001819	synonymous_variant	0			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3783G>A	20.37:g.46279857G>A			A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.Q1261	ENST00000371998.3	37	c.3783	CCDS13407.1	20																																																																																			NCOA3	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000124151		0.572	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	HGNC	protein_coding	OTTHUMT00000080405.1		0.00	86	0	G	NM_006534		46279857	+1			no_errors	ENST00000371998	ensembl	human	known	74_37	silent	5.88	60	4	SNP	0.971	A
NCOR2	9612	genome.wustl.edu	37	12	124846745	124846745	+	Silent	SNP	G	G	A	rs374201637		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:124846745G>A	ENST00000405201.1	-	22	3027	c.3027C>T	c.(3025-3027)agC>agT	p.S1009S	NCOR2_ENST00000429285.2_Silent_p.S991S|NCOR2_ENST00000404121.2_Silent_p.S562S|NCOR2_ENST00000397355.1_Silent_p.S992S|NCOR2_ENST00000404621.1_Silent_p.S991S|NCOR2_ENST00000356219.3_Silent_p.S1008S			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1009					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GAGGGGCGTCGCTCTCCGGCT	0.711																																																	0								G	,,	0,4052		0,0,2026	9.0	12.0	11.0		2973,2973,3027	-4.1	0.0	12		11	2,8330		0,2,4164	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	,,	0,2,6190	AA,AG,GG		0.024,0.0,0.0161	,,	991/2459,991/2505,1009/2515	124846745	2,12382	2026	4166	6192	SO:0001819	synonymous_variant	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3027C>T	12.37:g.124846745G>A			O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S1008	ENST00000405201.1	37	c.3024	CCDS41858.2	12																																																																																			NCOR2	-	NULL	ENSG00000196498		0.711	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	-	0.00	34	0	G	NM_006312		124846745	-1	tier1	-	no_errors	ENST00000356219	ensembl	human	known	74_37	silent	31.58	26	12	SNP	0.001	A
NDFIP1	80762	genome.wustl.edu	37	5	141511526	141511527	+	Intron	DEL	AA	AA	-	rs556414620		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:141511526_141511527delAA	ENST00000253814.4	+	2	621				NDFIP1_ENST00000509436.1_3'UTR	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1						cellular iron ion homeostasis (GO:0006879)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of protein transport (GO:0051224)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transporter activity (GO:0032410)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein ubiquitination (GO:0031398)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of lymphocyte differentiation (GO:0045619)|regulation of myeloid leukocyte differentiation (GO:0002761)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cell cortex (GO:0005938)|endosome (GO:0005768)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTACAGTTTAAAAAAAAAAAA	0.391																																																	0																																										SO:0001627	intron_variant	0			BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507			17592	protein-coding gene	gene with protein product		612050				11042109, 11748237	Standard	NM_030571		Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.151+66AA>-	5.37:g.141511536_141511537delAA			B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	RNA	DEL	-	NULL	ENST00000253814.4	37	NULL	CCDS4273.1	5																																																																																			NDFIP1	-	-	ENSG00000131507		0.391	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDFIP1	HGNC	protein_coding	OTTHUMT00000251859.2		0.00	9	0	AA	NM_030571		141511527	+1	tier1		no_errors	ENST00000509436	ensembl	human	known	74_37	rna	41.67	7	5	DEL	0.000:0.000	-
NDFIP2	54602	genome.wustl.edu	37	13	80117695	80117695	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:80117695G>A	ENST00000218652.7	+	5	770	c.718G>A	c.(718-720)Gca>Aca	p.A240T		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	240					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		GCTTTTAGTGGCATTTATTTT	0.358																																																	0													238.0	223.0	228.0					13																	80117695		2203	4300	6503	SO:0001583	missense	0			AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.718G>A	13.37:g.80117695G>A	ENSP00000218652:p.Ala240Thr		Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Missense_Mutation	SNP	pfam_NEDD4/BSD2	p.A240T	ENST00000218652.7	37	c.718	CCDS31998.1	13	.	.	.	.	.	.	.	.	.	.	G	34	5.332181	0.95733	.	.	ENSG00000102471	ENST00000218652	T	0.54279	0.58	5.84	5.84	0.93424	.	0.153368	0.64402	D	0.000020	T	0.75547	0.3864	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77035	-0.2737	10	0.87932	D	0	-1.5682	20.157	0.98115	0.0:0.0:1.0:0.0	.	240	Q9NV92	NFIP2_HUMAN	T	240	ENSP00000218652:A240T	ENSP00000218652:A240T	A	+	1	0	NDFIP2	79015696	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.337000	0.96545	2.768000	0.95171	0.650000	0.86243	GCA	NDFIP2	-	pfam_NEDD4/BSD2	ENSG00000102471		0.358	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDFIP2	HGNC	protein_coding	OTTHUMT00000045380.2	-	0.00	75	0	G			80117695	+1	tier1	-	no_errors	ENST00000218652	ensembl	human	known	74_37	missense	54.40	57	68	SNP	1.000	A
NDST1	3340	genome.wustl.edu	37	5	149918868	149918868	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:149918868G>T	ENST00000261797.6	+	7	2018	c.1516G>T	c.(1516-1518)Gac>Tac	p.D506Y	NDST1_ENST00000523767.1_Missense_Mutation_p.D506Y	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	506	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.D506Y(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTGAGCTGGACAAGATCAT	0.617																																																	1	Substitution - Missense(1)	endometrium(1)											181.0	174.0	176.0					5																	149918868		2203	4300	6503	SO:0001583	missense	0			U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1516G>T	5.37:g.149918868G>T	ENSP00000261797:p.Asp506Tyr		Q96E57	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.D506Y	ENST00000261797.6	37	c.1516	CCDS34277.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.116342	0.94339	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.49432	0.78;1.1	5.51	5.51	0.81932	.	0.042558	0.85682	D	0.000000	T	0.75369	0.3840	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.75484	0.968;0.986;0.968	T	0.79659	-0.1711	10	0.87932	D	0	.	19.7859	0.96437	0.0:0.0:1.0:0.0	.	506;506;506	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	Y	506	ENSP00000428604:D506Y;ENSP00000261797:D506Y	ENSP00000261797:D506Y	D	+	1	0	NDST1	149899061	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.918000	0.87506	2.746000	0.94184	0.655000	0.94253	GAC	NDST1	-	pfam_Heparan_SO4_deacetylase	ENSG00000070614		0.617	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST1	HGNC	protein_coding	OTTHUMT00000374314.2	-	0.00	54	0	G	NM_001543		149918868	+1	tier1	-	no_errors	ENST00000261797	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	T
NDST4	64579	genome.wustl.edu	37	4	115767053	115767053	+	Missense_Mutation	SNP	C	C	T	rs369719779		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:115767053C>T	ENST00000264363.2	-	10	2719	c.2041G>A	c.(2041-2043)Gca>Aca	p.A681T		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	681	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ACAAGAGATGCGGCTCGTCTT	0.443																																																	0													126.0	117.0	120.0					4																	115767053		2203	4300	6503	SO:0001583	missense	0			AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2041G>A	4.37:g.115767053C>T	ENSP00000264363:p.Ala681Thr		Q2KHM8	Missense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.A681T	ENST00000264363.2	37	c.2041	CCDS3706.1	4	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967488	0.53507	.	.	ENSG00000138653	ENST00000264363	T	0.56103	0.48	5.61	5.61	0.85477	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	M	0.66439	2.03	0.58432	D	0.999999	B	0.33171	0.4	B	0.31016	0.123	T	0.50346	-0.8839	10	0.22109	T	0.4	.	19.6454	0.95775	0.0:1.0:0.0:0.0	.	681	Q9H3R1	NDST4_HUMAN	T	681	ENSP00000264363:A681T	ENSP00000264363:A681T	A	-	1	0	NDST4	115986502	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	7.396000	0.79891	2.629000	0.89072	0.655000	0.94253	GCA	NDST4	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	ENSG00000138653		0.443	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST4	HGNC	protein_coding	OTTHUMT00000256427.1	-	0.00	54	0	C	NM_022569		115767053	-1	tier1	-	no_errors	ENST00000264363	ensembl	human	known	74_37	missense	35.82	43	24	SNP	1.000	T
NDUFA9	4704	genome.wustl.edu	37	12	4794302	4794303	+	Intron	DEL	AA	AA	-	rs374564173|rs546384604	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:4794302_4794303delAA	ENST00000266544.5	+	10	916				NDUFA9_ENST00000540688.1_Frame_Shift_Del_p.K20fs|RP11-234B24.6_ENST00000544741.2_Intron	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						TTATTTTCTTAAAAAAAAAAAA	0.465																																					Colon(75;996 1244 23946 25294 29232)												0																																										SO:0001627	intron_variant	0			AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.897-122AA>-	12.37:g.4794312_4794313delAA			Q14076|Q2NKX0	Frame_Shift_Del	DEL	NULL	p.N21fs	ENST00000266544.5	37	c.51_52	CCDS8532.1	12																																																																																			NDUFA9	-	NULL	ENSG00000139180		0.465	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA9	HGNC	protein_coding	OTTHUMT00000398900.2		0.00	10	0	AA	NM_005002		4794303	+1	tier1		no_errors	ENST00000540688	ensembl	human	putative	74_37	frame_shift_del	62.50	9	15	DEL	0.000:0.000	-
NDUFAF1	51103	genome.wustl.edu	37	15	41688939	41688939	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:41688939C>A	ENST00000260361.4	-	2	700	c.319G>T	c.(319-321)Gga>Tga	p.G107*		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	107					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|mitochondrial respiratory chain complex I (GO:0005747)	unfolded protein binding (GO:0051082)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		CCTTCCGGTCCTCTCCAATGA	0.448																																																	0													101.0	101.0	101.0					15																	41688939		2203	4300	6503	SO:0001587	stop_gained	0			AF151823	CCDS10075.1	15q11.2-q21.3	2012-10-12	2012-05-08		ENSG00000137806	ENSG00000137806		"""Mitochondrial respiratory chain complex assembly factors"""	18828	protein-coding gene	gene with protein product		606934				11935339, 10810093	Standard	NM_016013		Approved	CIA30, CGI-65	uc001znx.3	Q9Y375	OTTHUMG00000130340	ENST00000260361.4:c.319G>T	15.37:g.41688939C>A	ENSP00000260361:p.Gly107*		Q9BVZ5	Nonsense_Mutation	SNP	pfam_NADH-UbQ_OxRdtase-assoc_prot30,superfamily_Galactose-bd-like	p.G107*	ENST00000260361.4	37	c.319	CCDS10075.1	15	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238867	0.39598	.	.	ENSG00000137806	ENST00000260361	.	.	.	4.77	4.77	0.60923	.	0.047576	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-9.732	18.2343	0.89945	0.0:1.0:0.0:0.0	.	.	.	.	X	107	.	ENSP00000260361:G107X	G	-	1	0	NDUFAF1	39476231	1.000000	0.71417	0.078000	0.20375	0.049000	0.14656	5.586000	0.67503	2.375000	0.81037	0.456000	0.33151	GGA	NDUFAF1	-	NULL	ENSG00000137806		0.448	NDUFAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF1	HGNC	protein_coding	OTTHUMT00000252692.2	-	0.00	37	0	C	NM_016013		41688939	-1	tier1	-	no_errors	ENST00000260361	ensembl	human	known	74_37	nonsense	25.81	23	8	SNP	0.995	A
NDUFC2	4718	genome.wustl.edu	37	11	77784147	77784147	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:77784147delA	ENST00000281031.4	-	2	681	c.207delT	c.(205-207)tttfs	p.F69fs	NDUFC2_ENST00000528164.1_Frame_Shift_Del_p.F69fs|NDUFC2_ENST00000525085.1_Intron|NDUFC2_ENST00000527806.1_Frame_Shift_Del_p.F69fs|NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2_ENST00000534029.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Frame_Shift_Del_p.F69fs	NM_001204055.1|NM_004549.5	NP_001190984.1|NP_004540.1	O95298	NDUC2_HUMAN	NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa	69					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.F69fs*7(1)		large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)		Carvedilol(DB01136)	AATATCCAGCAAAAAAAAAGG	0.358																																																	1	Deletion - Frameshift(1)	large_intestine(1)											83.0	84.0	83.0					11																	77784147		2200	4292	6492	SO:0001589	frameshift_variant	0			AF087659	CCDS8257.1, CCDS55779.1, CCDS55781.1	11q14.1	2011-07-04	2002-08-29		ENSG00000151366	ENSG00000151366		"""Mitochondrial respiratory chain complex / Complex I"""	7706	protein-coding gene	gene with protein product	"""human lung cancer oncogene 1"", ""complex I subunit B14.5b"""	603845	"""NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2 (14.5kD, B14.5b)"""			9878551	Standard	NM_001204055		Approved	B14.5b, HLC-1		O95298		ENST00000281031.4:c.207delT	11.37:g.77784147delA	ENSP00000281031:p.Phe69fs		E9PNU8|E9PRB2|Q549M5|Q6FIH8|Q9UBJ9	Frame_Shift_Del	DEL	pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su	p.F69fs	ENST00000281031.4	37	c.207	CCDS8257.1	11																																																																																			NDUFC2	-	pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su	ENSG00000151366		0.358	NDUFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFC2	HGNC	protein_coding	OTTHUMT00000390821.1		0.00	29	0	A	NM_004549		77784147	-1	tier1		no_errors	ENST00000281031	ensembl	human	known	74_37	frame_shift_del	23.81	32	10	DEL	0.809	-
NDUFV3	4731	genome.wustl.edu	37	21	44323366	44323366	+	Intron	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:44323366T>C	ENST00000340344.4	+	3	235				NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Missense_Mutation_p.S82P	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		AAACTTATCTTCACCCAGTTC	0.502																																																	0													71.0	75.0	74.0					21																	44323366		2203	4300	6503	SO:0001627	intron_variant	0				CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.170-5608T>C	21.37:g.44323366T>C			A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	NULL	p.S82P	ENST00000340344.4	37	c.244	CCDS33573.1	21	.	.	.	.	.	.	.	.	.	.	T	9.055	0.993024	0.19043	.	.	ENSG00000160194	ENST00000354250	T	0.45276	0.9	5.84	-4.76	0.03229	.	1.060770	0.07304	N	0.874520	T	0.28665	0.0710	L	0.39633	1.23	0.21652	N	0.999608	B	0.06786	0.001	B	0.11329	0.006	T	0.26744	-1.0094	10	0.22706	T	0.39	-0.5143	7.6353	0.28264	0.0:0.4986:0.2589:0.2425	.	82	P56181-2	.	P	82	ENSP00000346196:S82P	ENSP00000346196:S82P	S	+	1	0	NDUFV3	43196435	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	-0.507000	0.06352	-1.086000	0.03084	0.533000	0.62120	TCA	NDUFV3	-	NULL	ENSG00000160194		0.502	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFV3	HGNC	protein_coding	OTTHUMT00000195448.2	-	0.00	83	0	T			44323366	+1	tier1	-	no_errors	ENST00000354250	ensembl	human	known	74_37	missense	18.42	62	14	SNP	0.005	C
NEB	4703	genome.wustl.edu	37	2	152350344	152350344	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:152350344G>T	ENST00000172853.10	-	142	19196	c.19049C>A	c.(19048-19050)aCa>aAa	p.T6350K	RIF1_ENST00000457745.1_Intron|NEB_ENST00000509223.2_Intron|NEB_ENST00000498015.2_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.T8206K|NEB_ENST00000603639.1_Missense_Mutation_p.T8206K|NEB_ENST00000397336.2_Missense_Mutation_p.T181K|NEB_ENST00000397345.3_Missense_Mutation_p.T8206K|NEB_ENST00000427231.2_Missense_Mutation_p.T8206K|NEB_ENST00000409198.1_Missense_Mutation_p.T6350K			P20929	NEBU_HUMAN	nebulin	6350					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGTAAAGGGTGTGGGGGTTGC	0.378																																																	0													58.0	56.0	56.0					2																	152350344		1828	4080	5908	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19049C>A	2.37:g.152350344G>T	ENSP00000172853:p.Thr6350Lys		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.T8206K	ENST00000172853.10	37	c.24617		2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.17|11.17|11.17	1.558908|1.558908|1.558908	0.27827|0.27827|0.27827	.|.|.	.|.|.	ENSG00000183091|ENSG00000183091|ENSG00000183091	ENST00000397337|ENST00000421461|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000397336	.|.|T;T;T;T;T	.|.|0.05786	.|.|3.39;3.45;3.45;3.39;3.95	5.93|5.93|5.93	4.15|4.15|4.15	0.48705|0.48705|0.48705	.|.|.	.|.|0.377447	.|.|0.33670	.|.|N	.|.|0.004662	T|T|T	0.15089|0.15089|0.15089	0.0364|0.0364|0.0364	L|L|L	0.51914|0.51914|0.51914	1.62|1.62|1.62	0.25951|0.25951|0.25951	N|N|N	0.982751|0.982751|0.982751	.|.|P;D;D	.|.|0.89917	.|.|0.764;0.978;1.0	.|.|P;P;D	.|.|0.87578	.|.|0.493;0.634;0.998	T|T|T	0.09207|0.09207|0.09207	-1.0685|-1.0685|-1.0685	5|5|10	.|.|0.13470	.|.|T	.|.|0.59	.|.|.	9.7705|9.7705|9.7705	0.40587|0.40587|0.40587	0.2116:0.0:0.7884:0.0|0.2116:0.0:0.7884:0.0|0.2116:0.0:0.7884:0.0	.|.|.	.|.|181;6350;8206	.|.|B7Z6P9;P20929;F8WCL5	.|.|.;NEBU_HUMAN;.	N|Q|K	340|351|6350;8206;8206;6350;181	.|.|ENSP00000386259:T6350K;ENSP00000380505:T8206K;ENSP00000416578:T8206K;ENSP00000172853:T6350K;ENSP00000380497:T181K	.|.|ENSP00000172853:T6350K	H|H|T	-|-|-	1|3|2	0|2|0	NEB|NEB|NEB	152058590|152058590|152058590	0.998000|0.998000|0.998000	0.40836|0.40836|0.40836	0.990000|0.990000|0.990000	0.47175|0.47175|0.47175	0.208000|0.208000|0.208000	0.24298|0.24298|0.24298	4.927000|4.927000|4.927000	0.63440|0.63440|0.63440	0.848000|0.848000|0.848000	0.35191|0.35191|0.35191	-0.150000|-0.150000|-0.150000	0.13652|0.13652|0.13652	CAC|CAC|ACA	NEB	-	smart_Nebulin_35r-motif	ENSG00000183091		0.378	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0.00	42	0	G	NM_004543		152350344	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.907	T
NEB	4703	genome.wustl.edu	37	2	152420128	152420128	+	Silent	SNP	T	T	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:152420128T>G	ENST00000172853.10	-	91	13729	c.13582A>C	c.(13582-13584)Agg>Cgg	p.R4528R	NEB_ENST00000604864.1_Silent_p.R6229R|NEB_ENST00000603639.1_Silent_p.R6229R|NEB_ENST00000397345.3_Silent_p.R6229R|NEB_ENST00000427231.2_Silent_p.R6229R|NEB_ENST00000409198.1_Silent_p.R4528R			P20929	NEBU_HUMAN	nebulin	4528					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACCGCACTCCTCATCTTTTGG	0.458																																																	0													257.0	242.0	247.0					2																	152420128		1965	4152	6117	SO:0001819	synonymous_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13582A>C	2.37:g.152420128T>G			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.R6229	ENST00000172853.10	37	c.18685		2																																																																																			NEB	-	smart_Nebulin_35r-motif	ENSG00000183091		0.458	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		-	0.00	76	0	T	NM_004543		152420128	-1	tier1	-	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	23.21	43	13	SNP	1.000	G
NEB	4703	genome.wustl.edu	37	2	152424871	152424871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:152424871delG	ENST00000172853.10	-	84	12739	c.12592delC	c.(12592-12594)ctgfs	p.L4199fs	NEB_ENST00000604864.1_Frame_Shift_Del_p.L5900fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.L5900fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.L5900fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.L5900fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.L4199fs			P20929	NEBU_HUMAN	nebulin	4199					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGTGCAGCAGGGGGGTTTCT	0.483																																																	0													91.0	98.0	96.0					2																	152424871		1882	4106	5988	SO:0001589	frameshift_variant	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12592delC	2.37:g.152424871delG	ENSP00000172853:p.Leu4199fs		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Del	DEL	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.L5899fs	ENST00000172853.10	37	c.17695		2																																																																																			NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.483	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding			0.00	77	0	G	NM_004543		152424871	-1	tier1		no_errors	ENST00000397345	ensembl	human	known	74_37	frame_shift_del	34.69	64	34	DEL	0.000	-
NEFL	4747	genome.wustl.edu	37	8	24813280	24813280	+	RNA	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:24813280G>T	ENST00000221169.5	-	0	1344				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGTCGGGCTTGGTCACGTCCA	0.577																																																	0													49.0	54.0	53.0					8																	24813280		2148	4257	6405			0				CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813280G>T			B9ZVN2|Q16154|Q8IU72	RNA	SNP	-	NULL	ENST00000221169.5	37	NULL		8																																																																																			NEFL	-	-	ENSG00000104725		0.577	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	NEFL	HGNC	processed_transcript	OTTHUMT00000258943.4	-	0.00	33	0	G	NM_006158		24813280	-1	tier1	-	no_errors	ENST00000221169	ensembl	human	known	74_37	rna	27.08	35	13	SNP	1.000	T
NEK10	152110	genome.wustl.edu	37	3	27352478	27352478	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:27352478C>A	ENST00000429845.2	-	10	960	c.598G>T	c.(598-600)Gat>Tat	p.D200Y	NEK10_ENST00000341435.5_Missense_Mutation_p.D200Y			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	200					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCTCTTTGATCTTTGACTGCA	0.448																																																	0													121.0	111.0	114.0					3																	27352478		1568	3582	5150	SO:0001583	missense	0			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.598G>T	3.37:g.27352478C>A	ENSP00000395849:p.Asp200Tyr		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.D200Y	ENST00000429845.2	37	c.598		3	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789508	0.50102	.	.	ENSG00000163491	ENST00000341435;ENST00000396636	T	0.53206	0.63	5.35	5.35	0.76521	Armadillo-like helical (1);Armadillo-type fold (1);	0.715370	0.14028	N	0.346378	T	0.25901	0.0631	N	0.08118	0	0.80722	D	1	P	0.38863	0.65	B	0.29353	0.101	T	0.18745	-1.0327	10	0.72032	D	0.01	.	11.8095	0.52175	0.0:0.9106:0.0:0.0893	.	200	Q6ZWH5	NEK10_HUMAN	Y	200	ENSP00000343847:D200Y	ENSP00000343847:D200Y	D	-	1	0	NEK10	27327482	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	1.443000	0.35057	2.668000	0.90789	0.655000	0.94253	GAT	NEK10	-	superfamily_ARM-type_fold	ENSG00000163491		0.448	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	HGNC	protein_coding	OTTHUMT00000438156.1	-	0.00	16	0	C	NM_152534		27352478	-1	tier1	-	no_errors	ENST00000341435	ensembl	human	known	74_37	missense	45.83	13	11	SNP	1.000	A
NEK2	4751	genome.wustl.edu	37	1	211847831	211847831	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:211847831A>G	ENST00000366999.4	-	2	259	c.121T>C	c.(121-123)Tat>Cat	p.Y41H	NEK2_ENST00000366998.3_Missense_Mutation_p.Y41H|NEK2_ENST00000540251.1_5'UTR|RP11-122M14.1_ENST00000415202.1_RNA	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	41	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		ATGGAGCCATAGTCAAGTTCT	0.348																																																	0													44.0	39.0	41.0					1																	211847831		2203	4300	6503	SO:0001583	missense	0			U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"""HsPK 21"", ""protein phosphatase 1, regulatory subunit 111"""	604043	"""NIMA (never in mitosis gene a)-related kinase 2"""			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.121T>C	1.37:g.211847831A>G	ENSP00000355966:p.Tyr41His		Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Y41H	ENST00000366999.4	37	c.121	CCDS1500.1	1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392423	0.83011	.	.	ENSG00000117650	ENST00000366999;ENST00000366998	T;T	0.65549	-0.16;-0.16	4.45	4.45	0.53987	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	L	0.39514	1.22	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.74627	-0.3602	10	0.72032	D	0.01	.	14.0275	0.64594	1.0:0.0:0.0:0.0	.	41;41;41	P51955-2;P51955;P51955-4	.;NEK2_HUMAN;.	H	41	ENSP00000355966:Y41H;ENSP00000355965:Y41H	ENSP00000355965:Y41H	Y	-	1	0	NEK2	209914454	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.999000	0.93557	1.767000	0.52121	0.482000	0.46254	TAT	NEK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000117650		0.348	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NEK2	HGNC	protein_coding	OTTHUMT00000090154.1	-	0.00	28	0	A	NM_002497		211847831	-1	tier1	-	no_errors	ENST00000366999	ensembl	human	novel	74_37	missense	18.46	52	12	SNP	1.000	G
NELFE	7936	genome.wustl.edu	37	6	31926206	31926206	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:31926206delG	ENST00000375429.3	-	2	244	c.18delC	c.(16-18)cccfs	p.P6fs	SKIV2L_ENST00000375394.2_5'Flank|MIR1236_ENST00000408340.1_RNA|SKIV2L_ENST00000544581.1_5'Flank|NELFE_ENST00000444811.2_Frame_Shift_Del_p.P6fs|NELFE_ENST00000375425.5_Frame_Shift_Del_p.P13fs	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	6					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CGCTCAGTCCGGGGGGTATCA	0.547																																																	0													157.0	147.0	150.0					6																	31926206		1511	2709	4220	SO:0001589	frameshift_variant	0			M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.18delC	6.37:g.31926206delG	ENSP00000364578:p.Pro6fs		A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G7fs	ENST00000375429.3	37	c.18	CCDS4730.1	6																																																																																			NELFE	-	NULL	ENSG00000204356		0.547	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NELFE	HGNC	protein_coding	OTTHUMT00000076047.4		0.00	89	0	G			31926206	-1	tier1		no_errors	ENST00000375429	ensembl	human	known	74_37	frame_shift_del	41.10	43	30	DEL	0.996	-
NET1	10276	genome.wustl.edu	37	10	5495005	5495005	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:5495005delT	ENST00000355029.4	+	6	736				NET1_ENST00000542715.1_Intron|NET1_ENST00000380359.3_Intron	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1						apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GGTGAATACATTTTTTTTAGG	0.279																																																	0																																										SO:0001627	intron_variant	0			AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.594+122T>-	10.37:g.5495005delT			Q12773|Q96D82|Q99903|Q9UEN6	RNA	DEL	-	NULL	ENST00000355029.4	37	NULL	CCDS41483.1	10																																																																																			NET1	-	-	ENSG00000173848		0.279	NET1-005	KNOWN	basic|CCDS	protein_coding	NET1	HGNC	protein_coding	OTTHUMT00000046553.3		0.00	8	0	T	NM_005863		5495005	+1	tier1		no_errors	ENST00000465087	ensembl	human	known	74_37	rna	71.43	2	5	DEL	0.000	-
NETO1	81832	genome.wustl.edu	37	18	70532046	70532046	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:70532046C>T	ENST00000327305.6	-	3	874	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	NETO1_ENST00000299430.2_Missense_Mutation_p.E72K|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Missense_Mutation_p.E72K|NETO1_ENST00000583169.1_Missense_Mutation_p.E73K	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	73	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CCCTTACCTTCTATGATGTAG	0.458																																																	0													108.0	99.0	102.0					18																	70532046		2203	4300	6503	SO:0001583	missense	0			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.217G>A	18.37:g.70532046C>T	ENSP00000313088:p.Glu73Lys		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt	p.E73K	ENST00000327305.6	37	c.217	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	C	35	5.498579	0.96355	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	T;T;T	0.17854	2.25;2.25;2.25	5.71	5.71	0.89125	CUB (5);	0.000000	0.64402	D	0.000008	T	0.42966	0.1226	M	0.62154	1.92	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.77557	0.99;0.987;0.968	T	0.12116	-1.0560	10	0.72032	D	0.01	.	20.2216	0.98326	0.0:1.0:0.0:0.0	.	72;72;73	Q8TDF5-1;Q8TDF5-2;Q8TDF5	.;.;NETO1_HUMAN	K	73;72;72	ENSP00000313088:E73K;ENSP00000299430:E72K;ENSP00000381024:E72K	ENSP00000299430:E72K	E	-	1	0	NETO1	68683026	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.776000	0.85560	2.860000	0.98153	0.655000	0.94253	GAA	NETO1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000166342		0.458	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	-	0.00	100	0	C	NM_138999		70532046	-1	tier1	-	no_errors	ENST00000327305	ensembl	human	known	74_37	missense	38.55	51	32	SNP	1.000	T
NEUROG2	63973	genome.wustl.edu	37	4	113435994	113435994	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:113435994G>A	ENST00000313341.3	-	2	964	c.638C>T	c.(637-639)aCg>aTg	p.T213M	RP11-402J6.1_ENST00000506057.1_RNA|RP11-402J6.1_ENST00000504009.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	213	Ser-rich.				axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		GCAACTCCACGTGGAGGCGGG	0.711																																																	0													26.0	29.0	28.0					4																	113435994		2202	4298	6500	SO:0001583	missense	0			AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.638C>T	4.37:g.113435994G>A	ENSP00000317333:p.Thr213Met		Q8N416	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.T213M	ENST00000313341.3	37	c.638	CCDS3698.1	4	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261247	0.59431	.	.	ENSG00000178403	ENST00000313341	D	0.91068	-2.78	4.07	4.07	0.47477	.	0.323774	0.21325	N	0.076384	D	0.88548	0.6466	N	0.19112	0.55	0.29973	N	0.818417	D	0.76494	0.999	P	0.55508	0.777	D	0.85357	0.1105	10	0.44086	T	0.13	-11.1289	13.8184	0.63306	0.0:0.0:1.0:0.0	.	213	Q9H2A3	NGN2_HUMAN	M	213	ENSP00000317333:T213M	ENSP00000317333:T213M	T	-	2	0	NEUROG2	113655443	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	3.471000	0.53107	2.097000	0.63578	0.655000	0.94253	ACG	NEUROG2	-	NULL	ENSG00000178403		0.711	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG2	HGNC	protein_coding	OTTHUMT00000256414.1	-	0.00	43	0	G	NM_024019		113435994	-1	tier1	-	no_errors	ENST00000313341	ensembl	human	known	74_37	missense	52.38	20	22	SNP	1.000	A
NEUROG3	50674	genome.wustl.edu	37	10	71332332	71332332	+	Silent	SNP	G	G	A	rs199756893		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:71332332G>A	ENST00000242462.4	-	2	497	c.468C>T	c.(466-468)tgC>tgT	p.C156C		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	156					central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CCAGCTCCCCGCAGTGCGGCG	0.706													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14547	0.0		0.0	False		,,,				2504	0.0																0													17.0	20.0	19.0					10																	71332332		2196	4295	6491	SO:0001819	synonymous_variant	0			AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.468C>T	10.37:g.71332332G>A			Q5VVI0|Q6DJX6|Q9BY24	Silent	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.C156	ENST00000242462.4	37	c.468	CCDS31212.1	10																																																																																			NEUROG3	-	superfamily_bHLH_dom	ENSG00000122859		0.706	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG3	HGNC	protein_coding	OTTHUMT00000048464.1	-	0.00	31	0	G	NM_020999		71332332	-1	tier1	-	no_errors	ENST00000242462	ensembl	human	known	74_37	silent	47.06	18	16	SNP	0.049	A
NF1	4763	genome.wustl.edu	37	17	29546092	29546092	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:29546092G>A	ENST00000358273.4	+	14	1980	c.1597G>A	c.(1597-1599)Gtc>Atc	p.V533I	NF1_ENST00000431387.4_Missense_Mutation_p.V533I|NF1_ENST00000356175.3_Missense_Mutation_p.V533I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	533					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)|p.N510_E547del(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CGTCCAACTGGTCCCTCAGTC	0.428			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)	soft_tissue(8)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)											73.0	68.0	69.0					17																	29546092		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1597G>A	17.37:g.29546092G>A	ENSP00000351015:p.Val533Ile		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.V533I	ENST00000358273.4	37	c.1597	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879831	0.51801	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.64085	2.72;-0.08;-0.08;2.85	5.65	4.68	0.58851	Armadillo-type fold (1);	0.122950	0.56097	D	0.000039	T	0.66519	0.2797	L	0.46741	1.465	0.80722	D	1	B;B;B;D;D	0.58620	0.326;0.001;0.087;0.983;0.958	B;B;B;P;P	0.55391	0.138;0.007;0.085;0.775;0.699	T	0.63323	-0.6663	10	0.25751	T	0.34	.	14.4469	0.67356	0.071:0.0:0.929:0.0	.	533;533;533;533;533	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	I	533;533;533;199	ENSP00000412921:V533I;ENSP00000351015:V533I;ENSP00000348498:V533I;ENSP00000389907:V199I	ENSP00000348498:V533I	V	+	1	0	NF1	26570218	1.000000	0.71417	0.967000	0.41034	0.871000	0.50021	9.138000	0.94501	1.379000	0.46325	0.585000	0.79938	GTC	NF1	-	superfamily_ARM-type_fold	ENSG00000196712		0.428	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	-	0.00	34	0	G	NM_000267		29546092	+1	tier1	-	no_errors	ENST00000358273	ensembl	human	known	74_37	missense	42.31	30	22	SNP	1.000	A
NFKB1	4790	genome.wustl.edu	37	4	103533682	103533682	+	Silent	SNP	G	G	A	rs568273802	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:103533682G>A	ENST00000505458.1	+	22	2785	c.2508G>A	c.(2506-2508)gcG>gcA	p.A836A	NFKB1_ENST00000600343.1_Silent_p.A656A|NFKB1_ENST00000226574.4_Silent_p.A837A|NFKB1_ENST00000394820.4_Silent_p.A836A			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	836	Death.|Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	CTACTCTGGCGCAGAAATTAG	0.448													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20765	0.0		0.0	False		,,,				2504	0.0																0													81.0	82.0	82.0					4																	103533682		2203	4300	6503	SO:0001819	synonymous_variant	0			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2508G>A	4.37:g.103533682G>A			A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt	p.A837	ENST00000505458.1	37	c.2511	CCDS54783.1	4																																																																																			NFKB1	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain	ENSG00000109320		0.448	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NFKB1	HGNC	protein_coding	OTTHUMT00000363411.1	-	0.00	52	0	G			103533682	+1	tier1	-	no_errors	ENST00000226574	ensembl	human	known	74_37	silent	36.99	46	27	SNP	1.000	A
NFKBIB	4793	genome.wustl.edu	37	19	39398218	39398218	+	Silent	SNP	C	C	T	rs367810334		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:39398218C>T	ENST00000313582.5	+	5	922	c.888C>T	c.(886-888)caC>caT	p.H296H	NFKBIB_ENST00000572515.1_Silent_p.H296H|NFKBIB_ENST00000392079.3_Silent_p.H264H	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	296					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCCGTGCACACGGAGCCCCTG	0.701													C|||	1	0.000199681	0.0	0.0	5008	,	,		15776	0.0		0.001	False		,,,				2504	0.0				Pancreas(165;1492 2005 6979 7739 34483)												0								C	,	1,4387		0,1,2193	17.0	19.0	18.0		792,888	-7.0	0.8	19		18	0,8540		0,0,4270	no	coding-synonymous,coding-synonymous	NFKBIB	NM_001001716.1,NM_002503.4	,	0,1,6463	TT,TC,CC		0.0,0.0228,0.0077	,	264/307,296/357	39398218	1,12927	2194	4270	6464	SO:0001819	synonymous_variant	0			L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"""Ankyrin repeat domain containing"""	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.888C>T	19.37:g.39398218C>T			A8K3F4|Q96BJ7	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.H296	ENST00000313582.5	37	c.888	CCDS12524.1	19																																																																																			NFKBIB	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104825		0.701	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIB	HGNC	protein_coding	OTTHUMT00000438155.1	-	0.00	41	0	C	NM_002503		39398218	+1	tier1	-	no_errors	ENST00000313582	ensembl	human	known	74_37	silent	51.72	14	15	SNP	0.453	T
NHSL1	57224	genome.wustl.edu	37	6	138754349	138754349	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:138754349G>T	ENST00000427025.2	-	5	1773	c.1145C>A	c.(1144-1146)aCa>aAa	p.T382K	MIR3145_ENST00000580727.1_RNA|NHSL1_ENST00000343505.5_Missense_Mutation_p.T378K	NM_020464.1	NP_065197.1	Q5SYE7	NHSL1_HUMAN	NHS-like 1	382								p.T378K(1)|p.T382K(1)		breast(2)|endometrium(4)|kidney(1)	7						TCTCAAAAGTGTTCCAGTCCC	0.507																																																	2	Substitution - Missense(2)	endometrium(2)											166.0	158.0	160.0					6																	138754349		692	1591	2283	SO:0001583	missense	0			AB037778	CCDS47487.1, CCDS55063.1	6q23.3	2009-02-18	2004-10-07	2004-10-07	ENSG00000135540	ENSG00000135540			21021	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 63"""	C6orf63			Standard	NM_001144060		Approved	bA43P8.1, KIAA1357	uc011edp.2	Q5SYE7	OTTHUMG00000016321	ENST00000427025.2:c.1145C>A	6.37:g.138754349G>T	ENSP00000394546:p.Thr382Lys		Q3ZCS5|Q5SYE8|Q9P2J0	Missense_Mutation	SNP	NULL	p.T382K	ENST00000427025.2	37	c.1145	CCDS55063.1	6	.	.	.	.	.	.	.	.	.	.	G	15.43	2.831152	0.50845	.	.	ENSG00000135540	ENST00000427025;ENST00000343505	T;T	0.37584	1.19;1.69	5.12	1.29	0.21616	.	0.613414	0.17441	N	0.174112	T	0.13970	0.0338	L	0.55481	1.735	0.09310	N	1	P;P	0.41848	0.763;0.763	B;B	0.36186	0.219;0.219	T	0.04946	-1.0916	10	0.66056	D	0.02	0.4582	8.7344	0.34519	0.4663:0.0:0.5337:0.0	.	378;382	E2QRJ1;Q5SYE7	.;NHSL1_HUMAN	K	382;378	ENSP00000394546:T382K;ENSP00000344672:T378K	ENSP00000344672:T378K	T	-	2	0	NHSL1	138796042	0.018000	0.18449	0.000000	0.03702	0.692000	0.40212	1.995000	0.40767	0.012000	0.14892	0.655000	0.94253	ACA	NHSL1	-	NULL	ENSG00000135540		0.507	NHSL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NHSL1	HGNC	protein_coding	OTTHUMT00000043700.2	-	0.00	77	0	G	XM_050421		138754349	-1	tier1	-	no_errors	ENST00000427025	ensembl	human	known	74_37	missense	7.14	65	5	SNP	0.000	T
NHSL2	340527	genome.wustl.edu	37	X	71354500	71354500	+	5'UTR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:71354500C>T	ENST00000373677.1	+	0	1002				NHSL2_ENST00000535692.1_5'UTR|RGAG4_ENST00000609883.1_5'Flank|NHSL2_ENST00000540800.1_Missense_Mutation_p.R236W|RGAG4_ENST00000545866.1_5'Flank|NHSL2_ENST00000510661.1_Missense_Mutation_p.R49W			Q5HYW2	NHSL2_HUMAN	NHS-like 2											NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					AGAGGAGAAGCGGTGGCCTCA	0.572																																																	0													91.0	73.0	78.0					X																	71354500		692	1591	2283	SO:0001623	5_prime_UTR_variant	0					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.-261C>T	X.37:g.71354500C>T			B2RN94	Missense_Mutation	SNP	NULL	p.R236W	ENST00000373677.1	37	c.706		X	.	.	.	.	.	.	.	.	.	.	c	17.77	3.470565	0.63625	.	.	ENSG00000204131	ENST00000540800;ENST00000510661	T;T	0.49432	1.46;0.78	5.27	2.2	0.27929	.	.	.	.	.	T	0.24699	0.0599	N	0.19112	0.55	0.80722	D	1	B;B	0.26002	0.017;0.139	B;B	0.17433	0.007;0.018	T	0.04885	-1.0920	8	.	.	.	.	3.5916	0.07990	0.3346:0.4393:0.0:0.2262	.	236;49	F5H593;D6RBM4	.;.	W	236;49	ENSP00000444617:R236W;ENSP00000424079:R49W	.	R	+	1	2	NHSL2	71271225	1.000000	0.71417	0.965000	0.40720	0.946000	0.59487	1.781000	0.38644	0.443000	0.26582	0.464000	0.42555	CGG	NHSL2	-	NULL	ENSG00000204131		0.572	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	HGNC	protein_coding	OTTHUMT00000057170.1	-	0.00	26	0	C	NM_001013627		71354500	+1	tier1	-	no_errors	ENST00000540800	ensembl	human	known	74_37	missense	75.00	3	9	SNP	0.999	T
B4GALNT3	283358	genome.wustl.edu	37	12	675233	675233	+	IGR	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:675233G>A	ENST00000266383.5	+	0	5068				NINJ2_ENST00000542920.1_Missense_Mutation_p.R13W|NINJ2_ENST00000305108.4_Missense_Mutation_p.R95W|NINJ2_ENST00000537416.1_Intron|NINJ2_ENST00000433832.2_Missense_Mutation_p.R13W|NINJ2_ENST00000397265.3_Missense_Mutation_p.R42W	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GCCTTCAGCCGCATGGCGTTG	0.612																																																	0													142.0	97.0	112.0					12																	675233		2203	4300	6503	SO:0001628	intergenic_variant	0			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.675233G>A			Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	pfam_Ninjurin	p.R95W	ENST00000266383.5	37	c.283	CCDS8504.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.070728	0.93950	.	.	ENSG00000171840	ENST00000305108;ENST00000397265;ENST00000542920;ENST00000433832	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.83	4.83	0.62350	.	0.237952	0.36628	N	0.002481	T	0.56485	0.1988	L	0.40543	1.245	0.53688	D	0.999977	D;D	0.89917	1.0;0.999	D;P	0.69654	0.965;0.877	T	0.61163	-0.7118	10	0.87932	D	0	-11.7848	17.9351	0.89010	0.0:0.0:1.0:0.0	.	95;49	B4DJC1;Q9NZG7	.;NINJ2_HUMAN	W	95;42;13;13	ENSP00000307552:R95W;ENSP00000380435:R42W;ENSP00000438831:R13W;ENSP00000415158:R13W	ENSP00000307552:R95W	R	-	1	2	NINJ2	545494	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.396000	0.73234	2.213000	0.71641	0.491000	0.48974	CGG	NINJ2	-	pfam_Ninjurin	ENSG00000171840		0.612	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NINJ2	HGNC	protein_coding	OTTHUMT00000251406.2	-	0.00	57	0	G	NM_173593		675233	-1	tier1	-	no_errors	ENST00000305108	ensembl	human	known	74_37	missense	15.00	85	15	SNP	1.000	A
NINJ2	4815	genome.wustl.edu	37	12	772503	772503	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:772503G>A	ENST00000305108.4	-	1	442	c.162C>T	c.(160-162)atC>atT	p.I54I	RP11-218M22.1_ENST00000543884.1_RNA	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	8					nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|tissue regeneration (GO:0042246)	integral component of plasma membrane (GO:0005887)				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CTTGAAGGTCGATGTTTTCTC	0.537																																																	0													130.0	129.0	129.0					12																	772503		2203	4300	6503	SO:0001819	synonymous_variant	0			AF205633	CCDS8505.1, CCDS73418.1	12p13	2008-08-05			ENSG00000171840	ENSG00000171840			7825	protein-coding gene	gene with protein product		607297				10627596	Standard	XM_005253689		Approved		uc001qil.3	Q9NZG7	OTTHUMG00000090311	ENST00000305108.4:c.162C>T	12.37:g.772503G>A				Silent	SNP	pfam_Ninjurin	p.I54	ENST00000305108.4	37	c.162	CCDS8505.1	12																																																																																			NINJ2	-	NULL	ENSG00000171840		0.537	NINJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NINJ2	HGNC	protein_coding	OTTHUMT00000206673.2	-	0.00	51	0	G	NM_016533		772503	-1	tier1	-	no_errors	ENST00000305108	ensembl	human	known	74_37	silent	22.73	68	20	SNP	0.000	A
NISCH	11188	genome.wustl.edu	37	3	52507760	52507760	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:52507760G>A	ENST00000479054.1	+	8	752	c.680G>A	c.(679-681)tGt>tAt	p.C227Y	NISCH_ENST00000488380.1_Missense_Mutation_p.C227Y|NISCH_ENST00000420808.2_Missense_Mutation_p.C227Y|NISCH_ENST00000345716.4_Missense_Mutation_p.C227Y			Q9Y2I1	NISCH_HUMAN	nischarin	227	Necessary for homooligomerization and targeting to endosomes.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	ATAAGTCACTGTGATGCTAAG	0.507																																																	0													87.0	74.0	79.0					3																	52507760		2203	4300	6503	SO:0001583	missense	0			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.680G>A	3.37:g.52507760G>A	ENSP00000418232:p.Cys227Tyr		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.C227Y	ENST00000479054.1	37	c.680	CCDS33767.1	3	.	.	.	.	.	.	.	.	.	.	g	26.3	4.725009	0.89298	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000488380;ENST00000420808	T;T;T;T	0.09073	3.02;3.02;3.12;3.06	5.93	5.93	0.95920	.	0.045911	0.85682	D	0.000000	T	0.32041	0.0816	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.72625	0.978;0.969	T	0.00322	-1.1818	10	0.54805	T	0.06	-10.4261	20.3352	0.98737	0.0:0.0:1.0:0.0	.	227;227	Q9Y2I1;C9J715	NISCH_HUMAN;.	Y	227	ENSP00000418232:C227Y;ENSP00000339958:C227Y;ENSP00000417812:C227Y;ENSP00000392484:C227Y	ENSP00000339958:C227Y	C	+	2	0	NISCH	52482800	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.132000	0.89603	2.817000	0.96982	0.651000	0.88453	TGT	NISCH	-	NULL	ENSG00000010322		0.507	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	-	0.00	124	0	G	NM_007184		52507760	+1	tier1	-	no_errors	ENST00000345716	ensembl	human	known	74_37	missense	36.28	72	41	SNP	1.000	A
NIT1	4817	genome.wustl.edu	37	1	161090515	161090515	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:161090515G>T	ENST00000368009.2	+	7	1020	c.944G>T	c.(943-945)aGg>aTg	p.R315M	PFDN2_ENST00000468311.1_5'Flank|DEDD_ENST00000489249.1_5'Flank|NIT1_ENST00000392190.5_Missense_Mutation_p.R279M|NIT1_ENST00000368008.1_Intron|PFDN2_ENST00000368010.3_5'Flank|NIT1_ENST00000368007.4_Missense_Mutation_p.R300M	NM_005600.2	NP_005591.1	Q86X76	NIT1_HUMAN	nitrilase 1	315	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	nitrilase activity (GO:0000257)			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CAGCACCGCAGGCCTGACCTC	0.597																																																	0													55.0	49.0	51.0					1																	161090515		2203	4300	6503	SO:0001583	missense	0			AF069984	CCDS1218.1, CCDS53401.1, CCDS53402.1, CCDS53403.1	1q21-q22	2008-05-14			ENSG00000158793	ENSG00000158793			7828	protein-coding gene	gene with protein product		604618				9671749	Standard	NM_005600		Approved		uc001fxv.2	Q86X76	OTTHUMG00000031473	ENST00000368009.2:c.944G>T	1.37:g.161090515G>T	ENSP00000356988:p.Arg315Met		B1AQP3|D3DVF4|O76091	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.R315M	ENST00000368009.2	37	c.944	CCDS1218.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935622	0.73442	.	.	ENSG00000158793	ENST00000368009;ENST00000368007;ENST00000392190	T;T;T	0.65549	-0.16;-0.16;-0.16	4.9	4.9	0.64082	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.86590	0.5969	H	0.99130	4.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.986	D	0.91764	0.5422	10	0.87932	D	0	-10.1019	15.6362	0.76953	0.0:0.0:1.0:0.0	.	300;315	Q86X76-4;Q86X76	.;NIT1_HUMAN	M	315;300;279	ENSP00000356988:R315M;ENSP00000356986:R300M;ENSP00000376028:R279M	ENSP00000356986:R300M	R	+	2	0	NIT1	159357139	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.883000	0.87264	2.551000	0.86045	0.563000	0.77884	AGG	NIT1	-	pfscan_C-N_Hydrolase	ENSG00000158793		0.597	NIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIT1	HGNC	protein_coding	OTTHUMT00000077060.1	-	0.00	30	0	G			161090515	+1	tier1	-	no_errors	ENST00000368009	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
NIT1	4817	genome.wustl.edu	37	1	161090539	161090539	+	Missense_Mutation	SNP	G	G	T	rs376379316		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:161090539G>T	ENST00000368009.2	+	7	1044	c.968G>T	c.(967-969)gGt>gTt	p.G323V	PFDN2_ENST00000468311.1_5'Flank|DEDD_ENST00000489249.1_5'Flank|NIT1_ENST00000392190.5_Missense_Mutation_p.G287V|NIT1_ENST00000368008.1_Intron|PFDN2_ENST00000368010.3_5'Flank|NIT1_ENST00000368007.4_Missense_Mutation_p.G308V	NM_005600.2	NP_005591.1	Q86X76	NIT1_HUMAN	nitrilase 1	323					nitrogen compound metabolic process (GO:0006807)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	nitrilase activity (GO:0000257)			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGCAATCTGGGTCACCCACTG	0.577																																																	0													51.0	45.0	47.0					1																	161090539		2203	4299	6502	SO:0001583	missense	0			AF069984	CCDS1218.1, CCDS53401.1, CCDS53402.1, CCDS53403.1	1q21-q22	2008-05-14			ENSG00000158793	ENSG00000158793			7828	protein-coding gene	gene with protein product		604618				9671749	Standard	NM_005600		Approved		uc001fxv.2	Q86X76	OTTHUMG00000031473	ENST00000368009.2:c.968G>T	1.37:g.161090539G>T	ENSP00000356988:p.Gly323Val		B1AQP3|D3DVF4|O76091	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase	p.G323V	ENST00000368009.2	37	c.968	CCDS1218.1	1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.752807	0.49362	.	.	ENSG00000158793	ENST00000368009;ENST00000368007;ENST00000392190	T;T;T	0.76186	-1.0;-0.99;-0.98	4.81	4.81	0.61882	.	0.332135	0.31797	N	0.007043	T	0.42562	0.1208	N	0.00583	-1.355	0.58432	D	0.999997	P;P	0.46512	0.879;0.808	P;P	0.51016	0.656;0.454	T	0.68138	-0.5488	10	0.72032	D	0.01	-5.038	13.2519	0.60055	0.0:0.0:1.0:0.0	.	308;323	Q86X76-4;Q86X76	.;NIT1_HUMAN	V	323;308;287	ENSP00000356988:G323V;ENSP00000356986:G308V;ENSP00000376028:G287V	ENSP00000356986:G308V	G	+	2	0	NIT1	159357163	1.000000	0.71417	0.999000	0.59377	0.553000	0.35397	2.666000	0.46799	2.499000	0.84300	0.563000	0.77884	GGT	NIT1	-	NULL	ENSG00000158793		0.577	NIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIT1	HGNC	protein_coding	OTTHUMT00000077060.1	-	0.00	25	0	G			161090539	+1	tier1	-	no_errors	ENST00000368009	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	T
NKD1	85407	genome.wustl.edu	37	16	50659407	50659407	+	Silent	SNP	C	C	T	rs372034222		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:50659407C>T	ENST00000268459.3	+	6	602	c.378C>T	c.(376-378)tgC>tgT	p.C126C		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	126	Interaction with DVL1, DVL2 and DVL3. {ECO:0000250}.				eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGCTCCAGTGCGACGTGTCCA	0.612													c|||	1	0.000199681	0.0	0.0	5008	,	,		15895	0.0		0.001	False		,,,				2504	0.0																0								C		0,4396		0,0,2198	93.0	76.0	82.0		378	0.6	1.0	16		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NKD1	NM_033119.4		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		126/471	50659407	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	0			AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.378C>T	16.37:g.50659407C>T			B2RC39|Q8WZ08	Silent	SNP	pfscan_EF_hand_dom	p.C126	ENST00000268459.3	37	c.378	CCDS10743.1	16																																																																																			NKD1	-	NULL	ENSG00000140807		0.612	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKD1	HGNC	protein_coding	OTTHUMT00000256873.1	-	0.00	33	0	C			50659407	+1	tier1	-	no_errors	ENST00000268459	ensembl	human	known	74_37	silent	33.33	20	10	SNP	1.000	T
NKD2	85409	genome.wustl.edu	37	5	1038447	1038447	+	Missense_Mutation	SNP	C	C	G	rs3840989		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:1038447C>G	ENST00000296849.5	+	10	1544	c.1315C>G	c.(1315-1317)Cac>Gac	p.H439D	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_Missense_Mutation_p.A78G	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	439	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccacca	0.692																																																	0													5.0	4.0	4.0					5																	1038447		1922	3764	5686	SO:0001583	missense	0			AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1315C>G	5.37:g.1038447C>G	ENSP00000296849:p.His439Asp		Q96EK8|Q9BSN0	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.H439D	ENST00000296849.5	37	c.1315	CCDS3859.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.23|13.23	2.175734|2.175734	0.38413|0.38413	.|.	.|.	ENSG00000145506|ENSG00000145506	ENST00000382730|ENST00000296849	T|T	0.43294|0.57436	0.95|0.4	3.7|3.7	3.7|3.7	0.42460|0.42460	.|.	.|0.000000	.|0.49916	.|U	.|0.000125	T|T	0.45316|0.45316	0.1336|0.1336	N|N	0.08118|0.08118	0|0	0.23751|0.23751	N|N	0.996949|0.996949	.|D	.|0.61697	.|0.99	.|P	.|0.57324	.|0.818	T|T	0.37709|0.37709	-0.9694|-0.9694	7|10	0.87932|0.87932	D|D	0|0	-15.3712|-15.3712	10.9501|10.9501	0.47323|0.47323	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|439	.|Q969F2	.|NKD2_HUMAN	G|D	78|439	ENSP00000372177:A78G|ENSP00000296849:H439D	ENSP00000372177:A78G|ENSP00000296849:H439D	A|H	+|+	2|1	0|0	NKD2|NKD2	1091447|1091447	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.983000|0.983000	0.72400|0.72400	4.911000|4.911000	0.63328|0.63328	1.633000|1.633000	0.50488|0.50488	0.561000|0.561000	0.74099|0.74099	GCA|CAC	NKD2	-	NULL	ENSG00000145506		0.692	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	HGNC	protein_coding	OTTHUMT00000206720.2		0.00	80	0	C	NM_033120		1038447	+1			no_errors	ENST00000296849	ensembl	human	known	74_37	missense	7.02	88	8	SNP	1.000	G
NKD2	85409	genome.wustl.edu	37	5	1038449	1038449	+	Missense_Mutation	SNP	C	C	G	rs3840989		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:1038449C>G	ENST00000296849.5	+	10	1546	c.1317C>G	c.(1315-1317)caC>caG	p.H439Q	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_Missense_Mutation_p.P79A	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	439	His-rich.				exocytosis (GO:0006887)|Golgi vesicle fusion to target membrane (GO:0048210)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein processing (GO:0010954)|protein targeting to plasma membrane (GO:0072661)|Wnt signaling pathway (GO:0016055)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cytoplasmic vesicle (GO:0031410)	calcium ion binding (GO:0005509)|growth factor binding (GO:0019838)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			accacgagcaccaccaccacc	0.692																																																	0													5.0	4.0	4.0					5																	1038449		1926	3751	5677	SO:0001583	missense	0			AF358137	CCDS3859.1, CCDS59486.1	5p15.3	2013-01-10			ENSG00000145506	ENSG00000145506		"""EF-hand domain containing"""	17046	protein-coding gene	gene with protein product	"""naked cuticle-2"", ""Dvl-binding protein NKD2"""	607852				11356022, 11604995	Standard	NM_033120		Approved	Naked2	uc003jbt.2	Q969F2	OTTHUMG00000090348	ENST00000296849.5:c.1317C>G	5.37:g.1038449C>G	ENSP00000296849:p.His439Gln		Q96EK8|Q9BSN0	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.H439Q	ENST00000296849.5	37	c.1317	CCDS3859.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.16|11.16	1.555962|1.555962	0.27827|0.27827	.|.	.|.	ENSG00000145506|ENSG00000145506	ENST00000296849|ENST00000382730	T|T	0.57273|0.53423	0.41|0.62	3.7|3.7	1.85|1.85	0.25348|0.25348	.|.	0.000000|.	0.49916|.	U|.	0.000125|.	T|T	0.27169|0.27169	0.0666|0.0666	N|N	0.08118|0.08118	0|0	0.20074|0.20074	N|N	0.999935|0.999935	D|.	0.69078|.	0.997|.	P|.	0.60949|.	0.881|.	T|T	0.21999|0.21999	-1.0229|-1.0229	10|7	0.87932|0.87932	D|D	0|0	-15.3712|-15.3712	5.1278|5.1278	0.14894|0.14894	0.0:0.7207:0.0:0.2793|0.0:0.7207:0.0:0.2793	.|.	439|.	Q969F2|.	NKD2_HUMAN|.	Q|A	439|79	ENSP00000296849:H439Q|ENSP00000372177:P79A	ENSP00000296849:H439Q|ENSP00000372177:P79A	H|P	+|+	3|1	2|0	NKD2|NKD2	1091449|1091449	0.999000|0.999000	0.42202|0.42202	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	0.431000|0.431000	0.21444|0.21444	0.551000|0.551000	0.29008|0.29008	0.561000|0.561000	0.74099|0.74099	CAC|CCA	NKD2	-	NULL	ENSG00000145506		0.692	NKD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NKD2	HGNC	protein_coding	OTTHUMT00000206720.2		0.00	79	0	C	NM_033120		1038449	+1			no_errors	ENST00000296849	ensembl	human	known	74_37	missense	9.28	88	9	SNP	1.000	G
NKRF	55922	genome.wustl.edu	37	X	118722358	118722359	+	3'UTR	DEL	TT	TT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:118722358_118722359delTT	ENST00000371527.1	-	0	3681_3682				NKRF_ENST00000542113.1_3'UTR|NKRF_ENST00000304449.5_3'UTR|NKRF_ENST00000487600.1_5'UTR	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TTTTTATACATTTTTTTTTTTT	0.371																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.*957AA>-	X.37:g.118722368_118722369delTT			G3V1N1|Q4VC41|Q9UJ91	RNA	DEL	-	NULL	ENST00000371527.1	37	NULL	CCDS35375.1	X																																																																																			NKRF	-	-	ENSG00000186416		0.371	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKRF	HGNC	protein_coding	OTTHUMT00000058044.1		0.00	16	0	TT	NM_017544		118722359	-1	tier1		no_errors	ENST00000487600	ensembl	human	known	74_37	rna	48.15	14	13	DEL	0.949:0.947	-
NKTR	4820	genome.wustl.edu	37	3	42659102	42659102	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:42659102delA	ENST00000232978.8	+	3	287	c.99delA	c.(97-99)ccafs	p.P33fs	RP4-613B23.1_ENST00000438017.1_RNA|NKTR_ENST00000442970.1_Frame_Shift_Del_p.P33fs|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	33	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		ACATATGTCCAAAAACATGCA	0.328																																																	0													157.0	140.0	146.0					3																	42659102		2203	4298	6501	SO:0001589	frameshift_variant	0				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.99delA	3.37:g.42659102delA	ENSP00000232978:p.Pro33fs			Frame_Shift_Del	DEL	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.T35fs	ENST00000232978.8	37	c.99	CCDS2702.1	3																																																																																			NKTR	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	ENSG00000114857		0.328	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2		0.00	62	0	A	NM_005385		42659102	+1	tier1		no_errors	ENST00000232978	ensembl	human	known	74_37	frame_shift_del	31.43	48	22	DEL	1.000	-
NKX2-8	26257	genome.wustl.edu	37	14	37050375	37050375	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:37050375G>T	ENST00000258829.5	-	2	669	c.452C>A	c.(451-453)cCt>cAt	p.P151H		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	151					axonogenesis (GO:0007409)|liver development (GO:0001889)|lung development (GO:0030324)|negative regulation of epithelial cell proliferation (GO:0050680)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		TGCCAGGTCAGGCGACTCCGC	0.716																																																	0													8.0	9.0	8.0					14																	37050375		2172	4254	6426	SO:0001583	missense	0				CCDS9660.1	14q13.3	2012-03-09	2007-07-09	2002-10-04	ENSG00000136327	ENSG00000136327		"""Homeoboxes / ANTP class : NKL subclass"""	16364	protein-coding gene	gene with protein product		603245	"""NK-2 homolog H (Drosophila)"", ""NK2 transcription factor related, locus 8 (Drosophila)"""	NKX2H		9446603	Standard	NM_014360		Approved	NKX2.8, Nkx2-9	uc001wtx.3	O15522	OTTHUMG00000028772	ENST00000258829.5:c.452C>A	14.37:g.37050375G>T	ENSP00000258829:p.Pro151His		Q8IUT7	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.P151H	ENST00000258829.5	37	c.452	CCDS9660.1	14	.	.	.	.	.	.	.	.	.	.	G	6.653	0.489015	0.12641	.	.	ENSG00000136327	ENST00000258829	D	0.91011	-2.77	3.36	3.36	0.38483	.	1.601160	0.03341	N	0.194735	D	0.86965	0.6060	L	0.40543	1.245	0.09310	N	1	B	0.14012	0.009	B	0.06405	0.002	T	0.71031	-0.4710	10	0.30854	T	0.27	.	8.8583	0.35242	0.1126:0.0:0.8874:0.0	.	151	O15522	NKX28_HUMAN	H	151	ENSP00000258829:P151H	ENSP00000258829:P151H	P	-	2	0	NKX2-8	36120126	0.474000	0.25886	0.004000	0.12327	0.078000	0.17371	0.728000	0.26013	2.166000	0.68216	0.561000	0.74099	CCT	NKX2-8	-	NULL	ENSG00000136327		0.716	NKX2-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-8	HGNC	protein_coding	OTTHUMT00000071844.6	-	0.00	33	0	G			37050375	-1	tier1	-	no_errors	ENST00000258829	ensembl	human	known	74_37	missense	60.00	8	12	SNP	0.005	T
NLGN4Y	22829	genome.wustl.edu	37	Y	16953112	16953113	+	3'UTR	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrY:16953112_16953113insC	ENST00000476359.1	+	0	2966_2967							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						GTACAAATTTACCCCACGGACA	0.441																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"""neuroligin 4, Y linked"""			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000476359.1:c.*2964->C	Y.37:g.16953116_16953116dupC			F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Frame_Shift_Ins	INS	pfam_CarbesteraseB,prints_Neuroligin	p.H865fs	ENST00000476359.1	37	c.2592_2593		Y																																																																																			NLGN4Y	-	NULL	ENSG00000165246		0.441	NLGN4Y-004	KNOWN	basic	processed_transcript	NLGN4Y	HGNC	protein_coding	OTTHUMT00000089064.2		0.00	59	0	-	NM_014893		16953113	+1	tier1		no_errors	ENST00000382868	ensembl	human	known	74_37	frame_shift_ins	80.00	10	40	INS	0.997:1.000	C
NLGN4Y	22829	genome.wustl.edu	37	Y	16952604	16952604	+	3'UTR	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrY:16952604G>A	ENST00000476359.1	+	0	2458							Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked						learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						ACCACCAAACGCCCAGCAATC	0.502																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"""neuroligin 4, Y linked"""			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000476359.1:c.*2455G>A	Y.37:g.16952604G>A			F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Missense_Mutation	SNP	pfam_CarbesteraseB,prints_Neuroligin	p.R695H	ENST00000476359.1	37	c.2084		Y																																																																																			NLGN4Y	-	NULL	ENSG00000165246		0.502	NLGN4Y-004	KNOWN	basic	processed_transcript	NLGN4Y	HGNC	protein_coding	OTTHUMT00000089064.2		0.00	126	0	G	NM_014893		16952604	+1			no_errors	ENST00000382868	ensembl	human	known	74_37	missense	10.22	123	14	SNP	1.000	A
NLN	57486	genome.wustl.edu	37	5	65088303	65088303	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:65088303G>A	ENST00000380985.5	+	9	1526	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	NLN_ENST00000502464.1_Missense_Mutation_p.A346T	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	450						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CAATCATGCGGCCTGCTTCGG	0.557																																																	0													102.0	99.0	100.0					5																	65088303		2203	4300	6503	SO:0001583	missense	0			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1348G>A	5.37:g.65088303G>A	ENSP00000370372:p.Ala450Thr		Q9ULJ4	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.A450T	ENST00000380985.5	37	c.1348	CCDS3989.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.536807|5.536807	0.96460|0.96460	.|.	.|.	ENSG00000123213|ENSG00000123213	ENST00000380985;ENST00000502464;ENST00000340159;ENST00000511299|ENST00000509935	T;T;T|.	0.14391|.	2.51;2.51;2.51|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Metallopeptidase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86981|0.86981	0.6064|0.6064	M|M	0.92169|0.92169	3.28|3.28	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.91635|.	0.979;0.993;0.999|.	D|D	0.89136|0.89136	0.3513|0.3513	10|5	0.52906|.	T|.	0.07|.	-12.2455|-12.2455	20.0079|20.0079	0.97439|0.97439	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	145;450;450|.	Q96K48;Q9BYT8;Q9BQD0|.	.;NEUL_HUMAN;.|.	T|D	450;346;450;178|46	ENSP00000370372:A450T;ENSP00000423214:A346T;ENSP00000427417:A178T|.	ENSP00000339283:A450T|.	A|G	+|+	1|2	0|0	NLN|NLN	65124059|65124059	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.873000|0.873000	0.50193|0.50193	9.420000|9.420000	0.97426|0.97426	2.722000|2.722000	0.93159|0.93159	0.655000|0.655000	0.94253|0.94253	GCC|GGC	NLN	-	pfam_Pept_M3A_M3B	ENSG00000123213		0.557	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLN	HGNC	protein_coding	OTTHUMT00000215060.1	-	0.00	30	0	G			65088303	+1	tier1	-	no_errors	ENST00000380985	ensembl	human	known	74_37	missense	36.59	26	15	SNP	1.000	A
NLRP12	91662	genome.wustl.edu	37	19	54313244	54313244	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:54313244C>T	ENST00000324134.6	-	3	1837	c.1669G>A	c.(1669-1671)Gca>Aca	p.A557T	NLRP12_ENST00000351894.4_Missense_Mutation_p.A557T|NLRP12_ENST00000391775.3_Missense_Mutation_p.A557T|NLRP12_ENST00000391772.1_Missense_Mutation_p.A557T|NLRP12_ENST00000391773.1_Missense_Mutation_p.A557T|NLRP12_ENST00000535162.1_Missense_Mutation_p.A557T|NLRP12_ENST00000345770.5_Missense_Mutation_p.A557T|NLRP12_ENST00000354278.3_Missense_Mutation_p.A557T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	557					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTGGTGAGTGCCAGGAAGCTC	0.587																																																	0													85.0	79.0	81.0					19																	54313244		2203	4300	6503	SO:0001583	missense	0			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1669G>A	19.37:g.54313244C>T	ENSP00000319377:p.Ala557Thr		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.A557T	ENST00000324134.6	37	c.1669	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	C	7.366	0.625930	0.14257	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	4.21	3.16	0.36331	.	0.209794	0.23748	N	0.044947	T	0.70456	0.3226	L	0.41492	1.28	0.80722	D	1	P;P;P;P	0.38535	0.635;0.635;0.635;0.489	B;B;B;B	0.32090	0.14;0.081;0.14;0.074	T	0.64757	-0.6332	10	0.28530	T	0.3	.	8.2536	0.31741	0.0:0.886:0.0:0.114	.	557;557;557;557	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	T	557	ENSP00000319377:A557T;ENSP00000438030:A557T;ENSP00000340473:A557T;ENSP00000346231:A557T;ENSP00000375655:A557T;ENSP00000375653:A557T;ENSP00000375652:A557T	ENSP00000319377:A557T	A	-	1	0	NLRP12	59005056	0.009000	0.17119	0.633000	0.29310	0.179000	0.23085	2.015000	0.40961	0.891000	0.36235	0.485000	0.47835	GCA	NLRP12	-	NULL	ENSG00000142405		0.587	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	-	0.00	25	0	C	NM_144687		54313244	-1	tier1	-	no_errors	ENST00000324134	ensembl	human	known	74_37	missense	43.33	17	13	SNP	0.996	T
NLRP13	126204	genome.wustl.edu	37	19	56413508	56413508	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:56413508G>T	ENST00000342929.3	-	9	2681	c.2682C>A	c.(2680-2682)aaC>aaA	p.N894K	NLRP13_ENST00000588751.1_Missense_Mutation_p.N894K	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	894							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCAGGCTCCTGTTCTGCAGGA	0.567																																																	0													117.0	85.0	96.0					19																	56413508		2203	4300	6503	SO:0001583	missense	0			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2682C>A	19.37:g.56413508G>T	ENSP00000343891:p.Asn894Lys		Q7RTR5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.N894K	ENST00000342929.3	37	c.2682	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559480	0.45590	.	.	ENSG00000173572	ENST00000342929	T	0.66460	-0.21	2.52	2.52	0.30459	.	.	.	.	.	T	0.75428	0.3848	M	0.76938	2.355	0.09310	N	1	D	0.54397	0.966	P	0.55923	0.787	T	0.64206	-0.6462	9	0.72032	D	0.01	.	9.0845	0.36572	0.0:0.0:1.0:0.0	.	894	Q86W25	NAL13_HUMAN	K	894	ENSP00000343891:N894K	ENSP00000343891:N894K	N	-	3	2	NLRP13	61105320	0.001000	0.12720	0.015000	0.15790	0.010000	0.07245	0.707000	0.25704	1.384000	0.46424	0.467000	0.42956	AAC	NLRP13	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000173572		0.567	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1		0.00	39	0	G	NM_176810		56413508	-1			no_errors	ENST00000342929	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.011	T
NLRP3	114548	genome.wustl.edu	37	1	247607260	247607260	+	Intron	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:247607260C>A	ENST00000336119.3	+	7	3415				NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000391828.3_Intron|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000366496.2_Intron	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACTCTTCTCCCTGTCCTTCTA	0.517																																																	0													163.0	132.0	143.0					1																	247607260		2203	4300	6503	SO:0001627	intron_variant	0			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2670-14C>A	1.37:g.247607260C>A			B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	RNA	SNP	-	NULL	ENST00000336119.3	37	NULL	CCDS1632.1	1																																																																																			NLRP3	-	-	ENSG00000162711		0.517	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP3	HGNC	protein_coding	OTTHUMT00000097740.1	-	0.00	189	0	C	NM_004895		247607260	+1	tier1	-	no_errors	ENST00000532083	ensembl	human	known	74_37	rna	27.18	209	78	SNP	0.000	A
NLRP7	199713	genome.wustl.edu	37	19	55450978	55450978	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:55450978C>T	ENST00000590030.1	-	3	1249	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P	NLRP7_ENST00000328092.5_Silent_p.P403P|NLRP7_ENST00000446217.1_Silent_p.P431P|NLRP7_ENST00000340844.2_Silent_p.P403P|NLRP7_ENST00000588756.1_Silent_p.P403P|NLRP7_ENST00000592784.1_Silent_p.P403P|NLRP7_ENST00000448121.2_Silent_p.P403P			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	403	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTGCGCCCTGCGGGAACCGGC	0.697																																																	0													8.0	8.0	8.0					19																	55450978		1947	3881	5828	SO:0001819	synonymous_variant	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1209G>A	19.37:g.55450978C>T			E9PE16|Q32MH8|Q7RTR1	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.P431	ENST00000590030.1	37	c.1293	CCDS33109.1	19																																																																																			NLRP7	-	NULL	ENSG00000167634		0.697	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	-	0.00	22	0	C	NM_139176		55450978	-1	tier1	-	no_errors	ENST00000446217	ensembl	human	known	74_37	silent	30.43	16	7	SNP	0.000	T
NLRP9	338321	genome.wustl.edu	37	19	56244870	56244870	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:56244870G>T	ENST00000332836.2	-	2	354	c.327C>A	c.(325-327)ctC>ctA	p.L109L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	109						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCTCCCATATGAGTTGAAATG	0.358																																																	0													120.0	120.0	120.0					19																	56244870		2203	4300	6503	SO:0001819	synonymous_variant	0			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.327C>A	19.37:g.56244870G>T			B2RN12|Q86W27	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L109	ENST00000332836.2	37	c.327	CCDS12934.1	19																																																																																			NLRP9	-	NULL	ENSG00000185792		0.358	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	-	0.00	43	0	G	NM_176820		56244870	-1	tier1	-	no_errors	ENST00000332836	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.000	T
NME5	8382	genome.wustl.edu	37	5	137451362	137451362	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:137451362delT	ENST00000265191.2	-	0	696				RNU6-460P_ENST00000391158.1_RNA|snoU13_ENST00000459094.1_RNA	NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5						cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTTTCGAGGATTTTTTTTTTA	0.303																																																	0										36,73,4133		0,0,36,0,73,2012	37.0	44.0	42.0			1.7	0.0	5		43	10,87,8127		0,0,10,2,83,4017	no	utr-3	NME5	NM_003551.2		0,0,46,2,156,6029	A1A1,A1A2,A1R,A2A2,A2R,RR		1.1795,2.5695,1.6525			137451362	46,160,12260	2192	4285	6477	SO:0001624	3_prime_UTR_variant	0			Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"""radial spoke 23 homolog (Chlamydomonas)"""	603575	"""non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"""			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.*8A>-	5.37:g.137451362delT			B2R5G7	RNA	DEL	-	NULL	ENST00000265191.2	37	NULL	CCDS4197.1	5																																																																																			NME5	-	-	ENSG00000112981		0.303	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME5	HGNC	protein_coding	OTTHUMT00000251286.1		0.00	60	0	T	NM_003551		137451362	-1	tier1		no_errors	ENST00000514481	ensembl	human	known	74_37	rna	39.13	56	36	DEL	0.001	-
NMT2	9397	genome.wustl.edu	37	10	15175068	15175068	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:15175068G>T	ENST00000378165.4	-	5	666	c.586C>A	c.(586-588)Ccc>Acc	p.P196T	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.P183T|NMT2_ENST00000378150.1_Missense_Mutation_p.P183T|NMT2_ENST00000540259.1_Missense_Mutation_p.P8T	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	196					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						AGGAACTCGGGTGAATAGTCA	0.423																																					Melanoma(117;1345 1645 4130 12688 30625)												0													173.0	157.0	162.0					10																	15175068		2203	4300	6503	SO:0001583	missense	0			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.586C>A	10.37:g.15175068G>T	ENSP00000367407:p.Pro196Thr		B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.P196T	ENST00000378165.4	37	c.586	CCDS7109.1	10	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052400	0.75960	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000540259;ENST00000535341	T	0.42900	0.96	5.7	5.7	0.88788	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60932	0.2307	M	0.64404	1.975	0.80722	D	1	P;D;P	0.53312	0.932;0.959;0.932	P;P;P	0.58928	0.59;0.848;0.59	T	0.60161	-0.7317	10	0.56958	D	0.05	-17.0812	19.8346	0.96650	0.0:0.0:1.0:0.0	.	196;183;196	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	T	196;183;227;8;183	ENSP00000367407:P196T	ENSP00000367385:P227T	P	-	1	0	NMT2	15215074	1.000000	0.71417	0.862000	0.33874	0.618000	0.37518	7.962000	0.87912	2.686000	0.91538	0.655000	0.94253	CCC	NMT2	-	pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	ENSG00000152465		0.423	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT2	HGNC	protein_coding	OTTHUMT00000046958.2	-	0.00	97	0	G	NM_004808		15175068	-1	tier1	-	no_errors	ENST00000378165	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
NMT2	9397	genome.wustl.edu	37	10	15175251	15175251	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:15175251G>A	ENST00000378165.4	-	4	583	c.503C>T	c.(502-504)gCc>gTc	p.A168V	RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.A155V|NMT2_ENST00000378150.1_Missense_Mutation_p.A155V|NMT2_ENST00000540259.1_5'UTR	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	168					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CACCACTTCGGCATCACTCAA	0.413																																					Melanoma(117;1345 1645 4130 12688 30625)												0													138.0	134.0	135.0					10																	15175251		2203	4300	6503	SO:0001583	missense	0			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.503C>T	10.37:g.15175251G>A	ENSP00000367407:p.Ala168Val		B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.A168V	ENST00000378165.4	37	c.503	CCDS7109.1	10	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169692	0.38315	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000535341	T	0.44482	0.92	5.71	3.82	0.43975	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, N-terminal (1);	0.212607	0.49916	D	0.000140	T	0.35682	0.0940	L	0.31578	0.945	0.80722	D	1	B;B;B	0.34061	0.146;0.436;0.146	B;B;B	0.39935	0.217;0.314;0.217	T	0.12344	-1.0551	10	0.44086	T	0.13	-1.5455	12.4226	0.55527	0.0:0.1278:0.7392:0.133	.	168;155;168	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	V	168;155;199;155	ENSP00000367407:A168V	ENSP00000367385:A199V	A	-	2	0	NMT2	15215257	1.000000	0.71417	0.001000	0.08648	0.232000	0.25224	6.741000	0.74837	0.712000	0.32039	0.655000	0.94253	GCC	NMT2	-	pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	ENSG00000152465		0.413	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT2	HGNC	protein_coding	OTTHUMT00000046958.2	-	0.00	110	0	G	NM_004808		15175251	-1	tier1	-	no_errors	ENST00000378165	ensembl	human	known	74_37	missense	35.06	50	27	SNP	0.976	A
NOBOX	135935	genome.wustl.edu	37	7	144101720	144101720	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:144101720C>T	ENST00000467773.1	-	2	138	c.139G>A	c.(139-141)Gga>Aga	p.G47R	NOBOX_ENST00000223140.5_5'Flank|NOBOX_ENST00000483238.1_Missense_Mutation_p.G47R	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	47					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CCACAGACTCCGTAGATCCGG	0.572																																																	0													97.0	105.0	103.0					7																	144101720		2004	4163	6167	SO:0001583	missense	0					7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.139G>A	7.37:g.144101720C>T	ENSP00000419457:p.Gly47Arg		A6NCD3|A8MZN5	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.G47R	ENST00000467773.1	37	c.139		7	.	.	.	.	.	.	.	.	.	.	C	12.29	1.892890	0.33442	.	.	ENSG00000106410	ENST00000483238;ENST00000467773	D;D	0.95171	-3.63;-3.63	1.78	0.786	0.18590	.	.	.	.	.	D	0.85230	0.5649	N	0.14661	0.345	0.09310	N	1	D	0.57899	0.981	B	0.38921	0.285	T	0.78743	-0.2085	9	0.87932	D	0	.	5.1612	0.15062	0.4004:0.5996:0.0:0.0	.	47	O60393	NOBOX_HUMAN	R	47	ENSP00000419565:G47R;ENSP00000419457:G47R	ENSP00000419457:G47R	G	-	1	0	NOBOX	143732653	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	0.693000	0.25497	0.252000	0.21531	0.305000	0.20034	GGA	NOBOX	-	NULL	ENSG00000106410		0.572	NOBOX-002	KNOWN	basic	protein_coding	NOBOX	HGNC	protein_coding	OTTHUMT00000350095.1	-	0.00	105	0	C	XM_001134420		144101720	-1	tier1	-	no_errors	ENST00000467773	ensembl	human	known	74_37	missense	41.75	60	43	SNP	0.000	T
NOL10	79954	genome.wustl.edu	37	2	10815951	10815951	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:10815951G>T	ENST00000381685.5	-	4	363	c.258C>A	c.(256-258)tcC>tcA	p.S86S	NOL10_ENST00000345985.3_Silent_p.S86S|NOL10_ENST00000538384.1_Intron|NOL10_ENST00000542668.1_Silent_p.S36S	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	86						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CAAACTTCAAGGATAATTGAT	0.303																																																	0													54.0	54.0	54.0					2																	10815951		2201	4298	6499	SO:0001819	synonymous_variant	0			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.258C>A	2.37:g.10815951G>T			A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Silent	SNP	pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.S86	ENST00000381685.5	37	c.258	CCDS1673.2	2																																																																																			NOL10	-	superfamily_WD40_repeat_dom	ENSG00000115761		0.303	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	HGNC	protein_coding	OTTHUMT00000239227.1	-	0.00	25	0	G	NM_024894		10815951	-1	tier1	-	no_errors	ENST00000381685	ensembl	human	known	74_37	silent	37.50	15	9	SNP	0.997	T
NOL8	55035	genome.wustl.edu	37	9	95072527	95072527	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:95072527G>A	ENST00000535387.1	-	8	2497	c.2498C>T	c.(2497-2499)tCg>tTg	p.S833L	NOL8_ENST00000442668.2_Missense_Mutation_p.S871L|NOL8_ENST00000542053.1_Missense_Mutation_p.S803L|NOL8_ENST00000545558.1_Missense_Mutation_p.S871L|NOL8_ENST00000358855.4_Missense_Mutation_p.S803L					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GCCAAAGTGCGACTGTAAATC	0.443																																																	0													64.0	62.0	63.0					9																	95072527		1993	4180	6173	SO:0001583	missense	0			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2498C>T	9.37:g.95072527G>A	ENSP00000441300:p.Ser833Leu			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S871L	ENST00000535387.1	37	c.2612	CCDS47993.1	9	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248696	0.39797	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.77	3.95	0.45737	.	0.219942	0.48767	N	0.000180	T	0.36468	0.0968	M	0.78637	2.42	0.43652	D	0.99606	P;P	0.41710	0.76;0.647	B;B	0.32533	0.147;0.093	T	0.38628	-0.9652	10	0.66056	D	0.02	-4.1246	12.4712	0.55787	0.1344:0.0:0.8656:0.0	.	803;871	Q76FK4-2;Q76FK4	.;NOL8_HUMAN	L	871;835;803;871;833;803;871	ENSP00000401177:S871L;ENSP00000351723:S803L;ENSP00000441140:S871L;ENSP00000441300:S833L;ENSP00000440709:S803L;ENSP00000414112:S871L	ENSP00000351723:S803L	S	-	2	0	NOL8	94112348	1.000000	0.71417	0.921000	0.36526	0.518000	0.34316	6.627000	0.74258	0.804000	0.34136	-0.225000	0.12378	TCG	NOL8	-	NULL	ENSG00000198000		0.443	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2	-	0.00	38	0	G	NM_017948		95072527	-1	tier1	-	no_errors	ENST00000442668	ensembl	human	known	74_37	missense	33.33	20	10	SNP	0.983	A
NONO	4841	genome.wustl.edu	37	X	70510542	70510544	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CAT	CAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:70510542_70510544delCAT	ENST00000276079.8	+	3	260_262	c.55_57delCAT	c.(55-57)catdel	p.H20del	NONO_ENST00000535149.1_Intron|NONO_ENST00000373841.1_In_Frame_Del_p.H20del|NONO_ENST00000373856.3_In_Frame_Del_p.H20del	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	20					circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TCCAAGAAAGCATCATCAACATC	0.448			T	TFE3	papillary renal cancer																																			Dom	yes		X	Xq13.1	4841	"""non-POU domain containing, octamer-binding"""		E	0																																										SO:0001651	inframe_deletion	0			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.55_57delCAT	X.37:g.70510545_70510547delCAT	ENSP00000276079:p.His20del		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	In_Frame_Del	DEL	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.H20in_frame_del	ENST00000276079.8	37	c.55_57	CCDS14410.1	X																																																																																			NONO	-	NULL	ENSG00000147140		0.448	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NONO	HGNC	protein_coding	OTTHUMT00000057138.1		0.00	51	0	CAT	NM_007363		70510544	+1	tier1		no_errors	ENST00000276079	ensembl	human	known	74_37	in_frame_del	75.68	9	28	DEL	1.000:1.000:1.000	-
NOP14	8602	genome.wustl.edu	37	4	2939958	2939958	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:2939958delA	ENST00000416614.2	-	0	3239				NOP14-AS1_ENST00000512802.1_RNA|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000507999.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Frame_Shift_Del_p.F801fs|NOP14_ENST00000314262.6_Intron|NOP14_ENST00000507120.1_5'UTR|NOP14_ENST00000502735.1_3'UTR			P78316	NOP14_HUMAN	NOP14 nucleolar protein						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TTATTACTCTAAAAAAAATTA	0.478																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000416614.2:c.*600T>-	4.37:g.2939958delA			D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Frame_Shift_Del	DEL	pfam_Nop14	p.F801fs	ENST00000416614.2	37	c.2403	CCDS33945.1	4																																																																																			NOP14	-	NULL	ENSG00000087269		0.478	NOP14-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358137.2		0.00	16	0	A	NM_003703		2939958	-1	tier1		no_errors	ENST00000398071	ensembl	human	known	74_37	frame_shift_del	36.36	21	12	DEL	0.010	-
NOP14	8602	genome.wustl.edu	37	4	2950090	2950090	+	Missense_Mutation	SNP	G	G	A	rs148438590	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:2950090G>A	ENST00000314262.6	-	9	1376	c.1328C>T	c.(1327-1329)tCg>tTg	p.S443L	NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000416614.2_Missense_Mutation_p.S443L|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.S443L|NOP14_ENST00000502735.1_Missense_Mutation_p.S443L	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	443					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CTCTTCCATCGATCTTCCTAA	0.388													G|||	2	0.000399361	0.0	0.0	5008	,	,		18269	0.0		0.0	False		,,,				2504	0.002																0								G	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	138.0	120.0	126.0		1328	5.2	0.0	4	dbSNP_134	126	0,8600		0,0,4300	no	missense	NOP14	NM_003703.1	145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	443/858	2950090	1,13005	2203	4300	6503	SO:0001583	missense	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1328C>T	4.37:g.2950090G>A	ENSP00000315674:p.Ser443Leu		D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	pfam_Nop14	p.S443L	ENST00000314262.6	37	c.1328	CCDS33945.1	4	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763898	0.89932	2.27E-4	0.0	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.17	5.17	0.71159	.	0.379445	0.26058	N	0.026586	T	0.41834	0.1176	M	0.81112	2.525	0.25506	N	0.987507	P;P;P	0.50443	0.935;0.835;0.835	B;B;B	0.41917	0.37;0.278;0.278	T	0.51957	-0.8639	10	0.87932	D	0	-1.9589	18.2669	0.90055	0.0:0.0:1.0:0.0	.	236;443;443	Q96GC8;E9PFK5;P78316	.;.;NOP14_HUMAN	L	443;443;443;443;342	ENSP00000405068:S443L;ENSP00000315674:S443L;ENSP00000427415:S443L;ENSP00000381146:S443L	ENSP00000315674:S443L	S	-	2	0	NOP14	2919888	0.991000	0.36638	0.005000	0.12908	0.294000	0.27393	7.149000	0.77396	2.410000	0.81850	0.563000	0.77884	TCG	NOP14	-	pfam_Nop14	ENSG00000087269		0.388	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14	HGNC	protein_coding	OTTHUMT00000358135.2	-	0.00	71	0	G	NM_003703		2950090	-1	tier1	rs148438590	no_errors	ENST00000416614	ensembl	human	known	74_37	missense	42.62	35	26	SNP	0.260	A
NOP14	8602	genome.wustl.edu	37	4	2952780	2952780	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:2952780delA	ENST00000314262.6	-	7	1051				NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000416614.2_Intron|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000398071.4_Intron|NOP14_ENST00000502735.1_Intron	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						AATGAATACCAAAAAAATGTT	0.294																																																	0																																										SO:0001627	intron_variant	0			AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1002+60T>-	4.37:g.2952780delA			D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	RNA	DEL	-	NULL	ENST00000314262.6	37	NULL	CCDS33945.1	4																																																																																			NOP14-AS1	-	-	ENSG00000249673		0.294	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NOP14-AS1	HGNC	protein_coding	OTTHUMT00000358135.2		0.00	21	0	A	NM_003703		2952780	+1	tier1		no_errors	ENST00000515194	ensembl	human	known	74_37	rna	42.86	8	6	DEL	0.000	-
NOTCH4	4855	genome.wustl.edu	37	6	32164716	32164716	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:32164716G>A	ENST00000375023.3	-	28	5324	c.5186C>T	c.(5185-5187)gCc>gTc	p.A1729V	NOTCH4_ENST00000443903.2_Missense_Mutation_p.A138V|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1729					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TTTATCTCTGGCCCCCACGTC	0.552																																																	0													256.0	250.0	252.0					6																	32164716		1511	2709	4220	SO:0001583	missense	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5186C>T	6.37:g.32164716G>A	ENSP00000364163:p.Ala1729Val		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.A1729V	ENST00000375023.3	37	c.5186	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.111545	0.94339	.	.	ENSG00000204301	ENST00000375023;ENST00000443903	T;T	0.71698	-0.29;-0.59	4.96	4.96	0.65561	Ankyrin repeat-containing domain (4);	0.000000	0.45126	D	0.000398	T	0.71634	0.3363	L	0.31578	0.945	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.76165	-0.3059	10	0.87932	D	0	.	15.7422	0.77910	0.0:0.0:1.0:0.0	.	138;138;1729;1728	B4DEL8;B4DFM3;Q99466;B0S882	.;.;NOTC4_HUMAN;.	V	1729;138	ENSP00000364163:A1729V;ENSP00000398123:A138V	ENSP00000364163:A1729V	A	-	2	0	NOTCH4	32272694	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.109000	0.94291	2.584000	0.87258	0.561000	0.74099	GCC	NOTCH4	-	pirsf_Notch,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000204301		0.552	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	-	0.00	65	0	G			32164716	-1	tier1	-	no_errors	ENST00000375023	ensembl	human	known	74_37	missense	37.04	32	20	SNP	1.000	A
NOTCH4	4855	genome.wustl.edu	37	6	32181998	32181998	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:32181998G>T	ENST00000375023.3	-	13	2194	c.2056C>A	c.(2056-2058)Cca>Aca	p.P686T	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	686	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCACACTCTGGCCCCGTCCAA	0.592																																																	0													112.0	112.0	112.0					6																	32181998		2203	4300	6503	SO:0001583	missense	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2056C>A	6.37:g.32181998G>T	ENSP00000364163:p.Pro686Thr		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.P686T	ENST00000375023.3	37	c.2056	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	G	6.114	0.389216	0.11581	.	.	ENSG00000204301	ENST00000375023	T	0.74842	-0.88	4.18	3.27	0.37495	EGF-like region, conserved site (2);	0.371203	0.19818	N	0.105372	T	0.30510	0.0767	N	0.05441	-0.05	0.50039	D	0.99984	B	0.26902	0.163	B	0.21151	0.033	T	0.14364	-1.0475	10	0.13470	T	0.59	.	10.3178	0.43747	0.0:0.3914:0.6086:0.0	.	686	Q99466	NOTC4_HUMAN	T	686	ENSP00000364163:P686T	ENSP00000364163:P686T	P	-	1	0	NOTCH4	32289976	0.001000	0.12720	0.990000	0.47175	0.324000	0.28378	0.531000	0.23052	0.917000	0.36895	0.561000	0.74099	CCA	NOTCH4	-	pirsf_Notch,smart_EG-like_dom	ENSG00000204301		0.592	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	-	0.00	14	0	G			32181998	-1	tier1	-	no_errors	ENST00000375023	ensembl	human	known	74_37	missense	60.00	4	6	SNP	0.817	T
NOTCH4	4855	genome.wustl.edu	37	6	32191658	32191659	+	In_Frame_Ins	INS	-	-	AGC	rs534749933|rs548737956|rs546167192|rs35795312|rs150280230|rs72110219|rs543450919|rs550565259|rs148340623	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:32191658_32191659insAGC	ENST00000375023.3	-	1	185_186	c.47_48insGCT	c.(46-48)cta>ctGCTa	p.16_16L>LL		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	16					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTGAGACACATagcagcagcag	0.639																																																	0																																										SO:0001652	inframe_insertion	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.45_47dupGCT	6.37:g.32191665_32191667dupAGC	ENSP00000364163:p.Leu16dup		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	In_Frame_Ins	INS	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.17in_frame_insL	ENST00000375023.3	37	c.48_47	CCDS34420.1	6																																																																																			NOTCH4	-	pirsf_Notch	ENSG00000204301		0.639	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2		0.00	31	0	-			32191659	-1	tier1		no_errors	ENST00000375023	ensembl	human	known	74_37	in_frame_ins	34.21	25	13	INS	0.002:0.003	AGC
NOTO	344022	genome.wustl.edu	37	2	73435720	73435720	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:73435720G>A	ENST00000398468.3	+	2	984	c.575G>A	c.(574-576)cGg>cAg	p.R192Q		NM_001134462.1	NP_001127934.1	A8MTQ0	NOTO_HUMAN	notochord homeobox	192					cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|notochord development (GO:0030903)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)	2						CTGGCAGCTCGGCTCAAACTT	0.532																																																	0													71.0	68.0	69.0					2																	73435720		692	1591	2283	SO:0001583	missense	0				CCDS46335.1	2p13.2	2011-06-20	2007-02-15		ENSG00000214513	ENSG00000214513		"""Homeoboxes / ANTP class : NKL subclass"""	31839	protein-coding gene	gene with protein product			"""notochord homolog (Xenopus laevis)"""			15231714	Standard	NM_001134462		Approved		uc010yrd.2	A8MTQ0	OTTHUMG00000164128	ENST00000398468.3:c.575G>A	2.37:g.73435720G>A	ENSP00000381486:p.Arg192Gln		B4DJ59|B7ZAU5	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R192Q	ENST00000398468.3	37	c.575	CCDS46335.1	2	.	.	.	.	.	.	.	.	.	.	G	7.357	0.623988	0.14193	.	.	ENSG00000214513	ENST00000398468	D	0.95885	-3.84	5.69	-5.37	0.02681	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	T	0.82176	0.4980	N	0.03000	-0.44	0.09310	N	1	P	0.34724	0.465	B	0.21546	0.035	T	0.74876	-0.3515	9	0.18710	T	0.47	-5.6418	10.8745	0.46902	0.6255:0.096:0.2785:0.0	.	192	A8MTQ0	NOTO_HUMAN	Q	192	ENSP00000381486:R192Q	ENSP00000381486:R192Q	R	+	2	0	NOTO	73289228	0.178000	0.23122	0.240000	0.24138	0.234000	0.25298	-0.048000	0.11944	-1.080000	0.03109	-0.793000	0.03317	CGG	NOTO	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000214513		0.532	NOTO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTO	HGNC	protein_coding	OTTHUMT00000377385.2	-	0.00	30	0	G	XM_292889		73435720	+1	tier1	-	no_errors	ENST00000398468	ensembl	human	known	74_37	missense	34.62	17	9	SNP	0.001	A
NPAP1	23742	genome.wustl.edu	37	15	24921798	24921798	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:24921798delC	ENST00000329468.2	+	1	1258	c.784delC	c.(784-786)cccfs	p.P263fs		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	263					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TGCAACAGCGCCCCCTGAGCC	0.642																																																	0													31.0	35.0	33.0					15																	24921798		2202	4300	6502	SO:0001589	frameshift_variant	0			AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.784delC	15.37:g.24921798delC	ENSP00000333735:p.Pro263fs			Frame_Shift_Del	DEL	NULL	p.P263fs	ENST00000329468.2	37	c.784	CCDS10015.1	15																																																																																			NPAP1	-	NULL	ENSG00000185823		0.642	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAP1	HGNC	protein_coding	OTTHUMT00000251253.1		0.00	18	0	C	NM_018958		24921798	+1	tier1		no_errors	ENST00000329468	ensembl	human	known	74_37	frame_shift_del	36.36	21	12	DEL	0.001	-
NPAT	4863	genome.wustl.edu	37	11	108044069	108044069	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:108044069delT	ENST00000278612.8	-	13	1747	c.1642delA	c.(1642-1644)agtfs	p.S548fs	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	548					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CAAAATTGACTTTTTTTAGAT	0.303																																																	0													40.0	37.0	38.0					11																	108044069		1786	4058	5844	SO:0001589	frameshift_variant	0			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.1642delA	11.37:g.108044069delT	ENSP00000278612:p.Ser548fs		A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Frame_Shift_Del	DEL	smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.S548fs	ENST00000278612.8	37	c.1642	CCDS41710.1	11																																																																																			NPAT	-	NULL	ENSG00000149308		0.303	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	HGNC	protein_coding	OTTHUMT00000389506.2		0.00	34	0	T	NM_002519		108044069	-1	tier1		no_errors	ENST00000278612	ensembl	human	known	74_37	frame_shift_del	23.81	32	10	DEL	0.000	-
NPAT	4863	genome.wustl.edu	37	11	108093362	108093362	+	5'UTR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:108093362C>T	ENST00000278612.8	-	0	7				ATM_ENST00000452508.2_5'Flank|ATM_ENST00000278616.4_5'Flank|NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus						positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CCAGTGGCGGCACTGAACTCG	0.552																																																	0																																										SO:0001623	5_prime_UTR_variant	0			X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.-99G>A	11.37:g.108093362C>T			A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	RNA	SNP	-	NULL	ENST00000278612.8	37	NULL	CCDS41710.1	11																																																																																			NPAT	-	-	ENSG00000149308		0.552	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAT	HGNC	protein_coding	OTTHUMT00000389506.2	-	0.00	68	0	C	NM_002519		108093362	-1	tier1	-	no_errors	ENST00000610253	ensembl	human	known	74_37	rna	36.21	37	21	SNP	0.997	T
NPBWR1	2831	genome.wustl.edu	37	8	53852639	53852639	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:53852639G>A	ENST00000331251.3	+	1	1649	c.172G>A	c.(172-174)Gtg>Atg	p.V58M		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	58					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CAACTCCGCCGTGCTGTACGT	0.677																																																	0													43.0	36.0	38.0					8																	53852639		2203	4300	6503	SO:0001583	missense	0			BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.172G>A	8.37:g.53852639G>A	ENSP00000330284:p.Val58Met		Q6NTC7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt	p.V58M	ENST00000331251.3	37	c.172	CCDS6151.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.127856	0.94473	.	.	ENSG00000183729	ENST00000331251	D	0.84800	-1.9	4.74	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000236	D	0.95538	0.8550	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97409	1.0001	10	0.87932	D	0	.	17.9109	0.88934	0.0:0.0:1.0:0.0	.	58	P48145	NPBW1_HUMAN	M	58	ENSP00000330284:V58M	ENSP00000330284:V58M	V	+	1	0	NPBWR1	54015192	1.000000	0.71417	0.950000	0.38849	0.987000	0.75469	7.538000	0.82048	2.457000	0.83068	0.655000	0.94253	GTG	NPBWR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000183729		0.677	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPBWR1	HGNC	protein_coding	OTTHUMT00000378047.1	-	0.00	84	0	G	NM_005285		53852639	+1	tier1	-	no_errors	ENST00000331251	ensembl	human	known	74_37	missense	32.99	65	32	SNP	1.000	A
NPEPL1	79716	genome.wustl.edu	37	20	57268948	57268948	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:57268948C>T	ENST00000356091.6	+	2	594	c.306C>T	c.(304-306)tgC>tgT	p.C102C	NPEPL1_ENST00000525967.1_Silent_p.C74C|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Silent_p.C54C	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	102						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			TGCGGACCTGCCTGCCGCCCG	0.692																																																	0													14.0	17.0	16.0					20																	57268948		2136	4225	6361	SO:0001819	synonymous_variant	0			AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.306C>T	20.37:g.57268948C>T			A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Silent	SNP	pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB	p.C102	ENST00000356091.6	37	c.306	CCDS46621.1	20																																																																																			NPEPL1	-	NULL	ENSG00000215440		0.692	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPL1	HGNC	protein_coding	OTTHUMT00000080402.6	-	0.00	23	0	C	NM_024663		57268948	+1	tier1	-	no_errors	ENST00000356091	ensembl	human	known	74_37	silent	47.62	11	10	SNP	1.000	T
NPEPL1	79716	genome.wustl.edu	37	20	57289000	57289000	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:57289000G>A	ENST00000356091.6	+	10	1441	c.1153G>A	c.(1153-1155)Gcg>Acg	p.A385T	RP11-261P9.4_ENST00000530479.1_RNA|NPEPL1_ENST00000525967.1_Missense_Mutation_p.A357T|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.A337T	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	385						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GTACCACGCCGCGGTGCTCAC	0.667																																																	0													14.0	19.0	18.0					20																	57289000		1801	3715	5516	SO:0001583	missense	0			AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.1153G>A	20.37:g.57289000G>A	ENSP00000348395:p.Ala385Thr		A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB	p.A385T	ENST00000356091.6	37	c.1153	CCDS46621.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.410985	0.96072	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.50001	0.76;0.76;0.76	5.67	5.67	0.87782	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.983;0.989	D	0.84747	0.0754	10	0.87932	D	0	-26.7612	16.9188	0.86158	0.0:0.0:1.0:0.0	.	385;337;357	Q8NDH3;G5EA34;E9PN47	PEPL1_HUMAN;.;.	T	357;337;385	ENSP00000434810:A357T;ENSP00000437112:A337T;ENSP00000348395:A385T	ENSP00000348395:A385T	A	+	1	0	NPEPL1	56722407	1.000000	0.71417	0.136000	0.22124	0.983000	0.72400	8.981000	0.93465	2.666000	0.90696	0.561000	0.74099	GCG	NPEPL1	-	pfam_Peptidase_M17_C	ENSG00000215440		0.667	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPL1	HGNC	protein_coding	OTTHUMT00000080402.6	-	0.00	66	0	G	NM_024663		57289000	+1	tier1	-	no_errors	ENST00000356091	ensembl	human	known	74_37	missense	45.59	37	31	SNP	0.994	A
NPHP1	4867	genome.wustl.edu	37	2	110881594	110881594	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:110881594T>C	ENST00000393272.3	-	20	2070	c.1973A>G	c.(1972-1974)gAc>gGc	p.D658G	NPHP1_ENST00000445609.2_Missense_Mutation_p.D603G|AC013268.1_ENST00000390802.1_RNA|NPHP1_ENST00000355301.4_Missense_Mutation_p.D540G|NPHP1_ENST00000417665.1_Missense_Mutation_p.D637G|NPHP1_ENST00000316534.4_Missense_Mutation_p.D659G	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	658					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GAGCACGCAGTCATGGTAAAC	0.468																																																	0													111.0	115.0	113.0					2																	110881594		2203	4300	6503	SO:0001583	missense	0			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.1973A>G	2.37:g.110881594T>C	ENSP00000376953:p.Asp658Gly		O14837	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.D659G	ENST00000393272.3	37	c.1976	CCDS46385.1	2	.	.	.	.	.	.	.	.	.	.	T	13.91	2.378521	0.42207	.	.	ENSG00000144061	ENST00000316534;ENST00000445609;ENST00000393272;ENST00000355301;ENST00000417665	T;T;T;T;T	0.63417	0.07;0.08;0.07;0.08;-0.04	5.5	5.5	0.81552	.	0.325178	0.32258	N	0.006359	T	0.74673	0.3747	M	0.61703	1.905	0.80722	D	1	B;B;D;B;D	0.69078	0.053;0.033;0.985;0.088;0.997	B;B;P;B;D	0.66979	0.021;0.034;0.783;0.047;0.948	T	0.74390	-0.3681	10	0.39692	T	0.17	-16.232	14.4178	0.67163	0.0:0.0:0.0:1.0	.	602;540;658;603;659	B4DQY0;O15259-3;O15259;O15259-2;O15259-4	.;.;NPHP1_HUMAN;.;.	G	659;603;658;540;637	ENSP00000313169:D659G;ENSP00000389879:D603G;ENSP00000376953:D658G;ENSP00000347452:D540G;ENSP00000402176:D637G	ENSP00000313169:D659G	D	-	2	0	NPHP1	110238883	0.997000	0.39634	0.920000	0.36463	0.882000	0.50991	5.458000	0.66679	2.086000	0.62901	0.379000	0.24179	GAC	NPHP1	-	NULL	ENSG00000144061		0.468	NPHP1-001	KNOWN	basic|CCDS	protein_coding	NPHP1	HGNC	protein_coding	OTTHUMT00000253919.3	-	0.00	77	0	T	NM_000272		110881594	-1	tier1	-	no_errors	ENST00000316534	ensembl	human	known	74_37	missense	14.29	72	12	SNP	0.911	C
NPHP4	261734	genome.wustl.edu	37	1	5925296	5925296	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:5925296C>T	ENST00000378156.4	-	27	3947	c.3682G>A	c.(3682-3684)Gtc>Atc	p.V1228I	NPHP4_ENST00000478423.2_5'UTR|MIR4689_ENST00000582517.1_RNA	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1228					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGGTAGACCTGCCACGTC	0.652																																																	0													23.0	33.0	30.0					1																	5925296		2133	4236	6369	SO:0001583	missense	0			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.3682G>A	1.37:g.5925296C>T	ENSP00000367398:p.Val1228Ile		Q8IWC0	Missense_Mutation	SNP	NULL	p.V1228I	ENST00000378156.4	37	c.3682	CCDS44052.1	1	.	.	.	.	.	.	.	.	.	.	C	1.958	-0.439456	0.04636	.	.	ENSG00000131697	ENST00000378156	T	0.75154	-0.91	5.42	2.12	0.27331	.	0.389270	0.21524	N	0.073173	T	0.53142	0.1778	N	0.25825	0.765	0.25667	N	0.985931	B	0.18310	0.027	B	0.16289	0.015	T	0.25152	-1.0140	10	0.22109	T	0.4	.	3.1615	0.06522	0.1974:0.3988:0.0:0.4038	.	1228	O75161	NPHP4_HUMAN	I	1228	ENSP00000367398:V1228I	ENSP00000367398:V1228I	V	-	1	0	NPHP4	5847883	0.561000	0.26578	0.956000	0.39512	0.165000	0.22458	-0.166000	0.09954	0.657000	0.30906	0.655000	0.94253	GTC	NPHP4	-	NULL	ENSG00000131697		0.652	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2	-	0.00	94	0	C			5925296	-1	tier1	-	no_errors	ENST00000378156	ensembl	human	known	74_37	missense	35.05	63	34	SNP	0.987	T
NPIPB11	728888	genome.wustl.edu	37	16	29395119	29395119	+	Silent	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:29395119C>A	ENST00000524087.1	-	8	1208	c.1134G>T	c.(1132-1134)cgG>cgT	p.R378R	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	378	Pro-rich.					integral component of membrane (GO:0016021)											GAAGCGGCCCCCGCAGACGCT	0.552																																																	0																																										SO:0001819	synonymous_variant	0					16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.1134G>T	16.37:g.29395119C>A				Silent	SNP	NULL	p.R378	ENST00000524087.1	37	c.1134		16																																																																																			NPIPB11	-	NULL	ENSG00000254206		0.552	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	NPIPB11	HGNC	protein_coding	OTTHUMT00000374094.1	-	0.00	51	0	C	XM_002343430		29395119	-1	tier1	-	no_errors	ENST00000524087	ensembl	human	putative	74_37	silent	7.69	48	4	SNP	0.000	A
NPR2	4882	genome.wustl.edu	37	9	35792472	35792472	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:35792472C>T	ENST00000342694.2	+	1	322	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	23					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCCCGGGGCGCGGAACCTGAC	0.677																																																	0													26.0	28.0	28.0					9																	35792472		2200	4298	6498	SO:0001583	missense	0			AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.67C>T	9.37:g.35792472C>T	ENSP00000341083:p.Arg23Trp		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.R23W	ENST00000342694.2	37	c.67	CCDS6590.1	9	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262149	0.80358	.	.	ENSG00000159899	ENST00000342694	T	0.81330	-1.48	4.09	4.09	0.47781	.	0.000000	0.40385	N	0.001119	T	0.77458	0.4133	N	0.08118	0	0.41027	D	0.985128	D;P	0.76494	0.999;0.915	D;P	0.65233	0.933;0.522	T	0.82068	-0.0640	10	0.62326	D	0.03	.	13.5193	0.61559	0.0:1.0:0.0:0.0	.	23;23	P20594-2;P20594	.;ANPRB_HUMAN	W	23	ENSP00000341083:R23W	ENSP00000341083:R23W	R	+	1	2	NPR2	35782472	.	.	0.985000	0.45067	0.962000	0.63368	.	.	2.261000	0.74972	0.563000	0.77884	CGG	NPR2	-	superfamily_Peripla_BP_I	ENSG00000159899		0.677	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR2	HGNC	protein_coding	OTTHUMT00000052345.1	-	0.00	133	0	C			35792472	+1	tier1	-	no_errors	ENST00000342694	ensembl	human	known	74_37	missense	38.39	69	43	SNP	0.991	T
NPR3	4883	genome.wustl.edu	37	5	32712514	32712514	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:32712514G>A	ENST00000265074.8	+	1	975	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.R211Q	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	211					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	AAGCTGGAGCGGAACTGCTAC	0.612																																																	0													52.0	60.0	57.0					5																	32712514		2072	4207	6279	SO:0001583	missense	0				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.632G>A	5.37:g.32712514G>A	ENSP00000265074:p.Arg211Gln		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt	p.R211Q	ENST00000265074.8	37	c.632	CCDS56357.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.157411	0.94686	.	.	ENSG00000113389	ENST00000265074;ENST00000415167	D;D	0.83914	-1.78;-1.78	4.89	4.89	0.63831	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.953	D	0.88928	0.3371	10	0.15499	T	0.54	-15.8908	18.2354	0.89948	0.0:0.0:1.0:0.0	.	211;211	P17342;Q60I31	ANPRC_HUMAN;.	Q	211	ENSP00000265074:R211Q;ENSP00000398028:R211Q	ENSP00000265074:R211Q	R	+	2	0	NPR3	32748271	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.429000	0.97481	2.551000	0.86045	0.561000	0.74099	CGG	NPR3	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000113389		0.612	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPR3	HGNC	protein_coding	OTTHUMT00000317550.3	-	0.00	56	0	G	NM_000908		32712514	+1	tier1	-	no_errors	ENST00000265074	ensembl	human	known	74_37	missense	21.82	43	12	SNP	1.000	A
NPRL3	8131	genome.wustl.edu	37	16	162652	162652	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:162652C>T	ENST00000399953.3	-	5	918	c.516G>A	c.(514-516)gcG>gcA	p.A172A	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_5'UTR	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	172					aorta morphogenesis (GO:0035909)|cardiac muscle tissue development (GO:0048738)|palate development (GO:0060021)|ventricular septum development (GO:0003281)		GTPase activator activity (GO:0005096)			endometrium(1)|large_intestine(3)|ovary(2)	6						CATCCTGGAGCGCCAGGATCA	0.642																																																	0													28.0	34.0	32.0					16																	162652		2179	4268	6447	SO:0001819	synonymous_variant	0				CCDS73794.1, CCDS73795.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000103148	ENSG00000103148			14124	protein-coding gene	gene with protein product	"""conserved gene telomeric to alpha globin cluster"""	600928	"""chromosome 16 open reading frame 35"""	C16orf35		8575760	Standard	NM_001243247		Approved	CGTHBA, RMD11, NPR3, MARE, HS-40	uc002cfr.3	Q12980	OTTHUMG00000047792	ENST00000399953.3:c.516G>A	16.37:g.162652C>T			D3DU40|Q1W6H0|Q4TT56|Q92469	Silent	SNP	pfam_NPR3,superfamily_Galactose-bd-like	p.A172	ENST00000399953.3	37	c.516		16																																																																																			NPRL3	-	pfam_NPR3	ENSG00000103148		0.642	NPRL3-202	KNOWN	basic|appris_principal	protein_coding	NPRL3	HGNC	protein_coding		-	0.00	32	0	C	NM_001039476		162652	-1	tier1	-	no_errors	ENST00000399953	ensembl	human	known	74_37	silent	36.36	14	8	SNP	0.194	T
NPY	4852	genome.wustl.edu	37	7	24324976	24324976	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:24324976C>T	ENST00000407573.1	+	3	407	c.117C>T	c.(115-117)gaC>gaT	p.D39D	NPY_ENST00000242152.2_Silent_p.D39D|NPY_ENST00000405982.1_Silent_p.D39D			P01303	NPY_HUMAN	neuropeptide Y	39					adult feeding behavior (GO:0008343)|behavior (GO:0007610)|blood circulation (GO:0008015)|calcium ion transport (GO:0006816)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of appetite (GO:0032100)|regulation of blood pressure (GO:0008217)|synaptic transmission (GO:0007268)	cell (GO:0005623)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)	p.D39D(1)		breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CGGGCGAGGACGCACCAGCGG	0.682																																																	1	Substitution - coding silent(1)	large_intestine(1)											83.0	63.0	70.0					7																	24324976		2203	4300	6503	SO:0001819	synonymous_variant	0			K01911	CCDS5387.1	7p15.3	2013-02-26			ENSG00000122585	ENSG00000122585		"""Endogenous ligands"""	7955	protein-coding gene	gene with protein product	"""prepro-neuropeptide Y"""	162640					Standard	NM_000905		Approved	PYY4	uc003sww.2	P01303	OTTHUMG00000022973	ENST00000407573.1:c.117C>T	7.37:g.24324976C>T				Silent	SNP	pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like	p.D39	ENST00000407573.1	37	c.117	CCDS5387.1	7																																																																																			NPY	-	pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like	ENSG00000122585		0.682	NPY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NPY	HGNC	protein_coding	OTTHUMT00000326748.1	-	0.00	37	0	C	NM_000905		24324976	+1	tier1	-	no_errors	ENST00000242152	ensembl	human	known	74_37	silent	50.00	19	19	SNP	1.000	T
NPY2R	4887	genome.wustl.edu	37	4	156135406	156135406	+	Silent	SNP	G	G	A	rs148709959		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:156135406G>A	ENST00000329476.3	+	2	804	c.315G>A	c.(313-315)ccG>ccA	p.P105P	NPY2R_ENST00000506608.1_Silent_p.P105P	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	105					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	TGTGTCTACCGTTCACTCTTA	0.493																																																	0													79.0	81.0	80.0					4																	156135406		2203	4300	6503	SO:0001819	synonymous_variant	0			U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.315G>A	4.37:g.156135406G>A			Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.P105	ENST00000329476.3	37	c.315	CCDS3791.1	4																																																																																			NPY2R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPFF_rcpt	ENSG00000185149		0.493	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY2R	HGNC	protein_coding	OTTHUMT00000365128.1	-	0.00	57	0	G	NM_000910		156135406	+1	tier1	-	no_errors	ENST00000329476	ensembl	human	known	74_37	silent	43.14	29	22	SNP	0.846	A
NQO1	1728	genome.wustl.edu	37	16	69752048	69752048	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:69752048G>A	ENST00000320623.5	-	3	792	c.281C>T	c.(280-282)gCc>gTc	p.A94V	NQO1_ENST00000379047.3_Missense_Mutation_p.A94V|NQO1_ENST00000561500.1_Missense_Mutation_p.A94V|NQO1_ENST00000439109.2_Missense_Mutation_p.A94V|NQO1_ENST00000564043.1_Missense_Mutation_p.A73V|NQO1_ENST00000379046.2_Missense_Mutation_p.A94V	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	94					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	AAGGTCTGCGGCTTCCAGCTT	0.488																																																	0													174.0	182.0	179.0					16																	69752048		2198	4300	6498	SO:0001583	missense	0			M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"""diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"""	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.281C>T	16.37:g.69752048G>A	ENSP00000319788:p.Ala94Val		B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	pfam_Flavodoxin_fold,pfam_FMN_Rdtase-like	p.A94V	ENST00000320623.5	37	c.281	CCDS10883.1	16	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154262	0.78114	.	.	ENSG00000181019	ENST00000320623;ENST00000379047;ENST00000379046;ENST00000439109	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	6.03	2.61	0.31194	Flavodoxin-like fold (1);	0.218233	0.47455	D	0.000223	T	0.22360	0.0539	M	0.76938	2.355	0.43841	D	0.996423	D;P;P;P	0.67145	0.996;0.873;0.637;0.83	P;P;P;B	0.49387	0.606;0.609;0.471;0.362	T	0.21484	-1.0244	9	.	.	.	-3.8579	16.2224	0.82265	0.0:0.0:0.6437:0.3563	.	94;94;94;94	B4DLR8;B4DNM7;B7ZAD1;P15559	.;.;.;NQO1_HUMAN	V	94	ENSP00000319788:A94V;ENSP00000368335:A94V;ENSP00000368334:A94V;ENSP00000398330:A94V	.	A	-	2	0	NQO1	68309549	0.949000	0.32298	0.964000	0.40570	0.966000	0.64601	2.829000	0.48128	0.835000	0.34877	-0.181000	0.13052	GCC	NQO1	-	pfam_Flavodoxin_fold,pfam_FMN_Rdtase-like	ENSG00000181019		0.488	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NQO1	HGNC	protein_coding	OTTHUMT00000268956.2	-	0.00	43	0	G			69752048	-1	tier1	-	no_errors	ENST00000320623	ensembl	human	known	74_37	missense	72.00	7	18	SNP	0.871	A
NR2C2AP	126382	genome.wustl.edu	37	19	19312794	19312794	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:19312794G>T	ENST00000331552.7	-	5	723	c.360C>A	c.(358-360)gcC>gcA	p.A120A	NR2C2AP_ENST00000544883.1_3'UTR|NR2C2AP_ENST00000420605.3_Silent_p.A120A	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	120					cell adhesion (GO:0007155)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			AAAAGTCAGTGGCATCCTCAA	0.572																																																	0													100.0	88.0	92.0					19																	19312794		2203	4300	6503	SO:0001819	synonymous_variant	0			AY101377	CCDS32967.1, CCDS74316.1	19p13.11	2008-01-10				ENSG00000184162			30763	protein-coding gene	gene with protein product	"""TR4 orphan receptor associated protein TRA16"""	608719				12486131	Standard	XM_005259740		Approved	TRA16	uc002nlx.3	Q86WQ0		ENST00000331552.7:c.360C>A	19.37:g.19312794G>T			A6NGP7|B4DW92	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like	p.A120	ENST00000331552.7	37	c.360	CCDS32967.1	19																																																																																			NR2C2AP	-	superfamily_Galactose-bd-like	ENSG00000184162		0.572	NR2C2AP-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NR2C2AP	HGNC	protein_coding	OTTHUMT00000402936.4	-	0.00	56	0	G	NM_176880		19312794	-1	tier1	-	no_errors	ENST00000331552	ensembl	human	known	74_37	silent	10.81	33	4	SNP	0.692	T
NR4A2	4929	genome.wustl.edu	37	2	157182418	157182418	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:157182418delC	ENST00000339562.4	-	8	1997	c.1635delG	c.(1633-1635)gggfs	p.G545fs	NR4A2_ENST00000429376.1_Frame_Shift_Del_p.V448fs|NR4A2_ENST00000426264.1_Frame_Shift_Del_p.G482fs|NR4A2_ENST00000409572.1_Frame_Shift_Del_p.G545fs|NR4A2_ENST00000409108.2_Frame_Shift_Del_p.V511fs|NR4A2_ENST00000539077.1_Frame_Shift_Del_p.G556fs	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	545					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GGCGGTTCAACCCCCCATTGT	0.483																																																	0													114.0	116.0	115.0					2																	157182418		2203	4300	6503	SO:0001589	frameshift_variant	0			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.1635delG	2.37:g.157182418delC	ENSP00000344479:p.Gly545fs		Q16311|Q53RZ2|Q6NXU0	Frame_Shift_Del	DEL	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.L557fs	ENST00000339562.4	37	c.1668	CCDS2201.1	2																																																																																			NR4A2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_NURR_rcpt	ENSG00000153234		0.483	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A2	HGNC	protein_coding	OTTHUMT00000254909.2		0.00	18	0	C			157182418	-1	tier1		no_errors	ENST00000539077	ensembl	human	known	74_37	frame_shift_del	27.27	16	6	DEL	0.001	-
NR4A2	4929	genome.wustl.edu	37	2	157185943	157185943	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:157185943C>T	ENST00000339562.4	-	3	1118	c.756G>A	c.(754-756)ccG>ccA	p.P252P	NR4A2_ENST00000429376.1_Silent_p.P189P|NR4A2_ENST00000426264.1_Silent_p.P189P|NR4A2_ENST00000409572.1_Silent_p.P252P|NR4A2_ENST00000409108.2_Silent_p.P252P|NR4A2_ENST00000539077.1_Silent_p.P263P	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	252					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						AGCCCCGCGACGGCGGTGAGG	0.697																																																	0													17.0	18.0	18.0					2																	157185943		2201	4298	6499	SO:0001819	synonymous_variant	0			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.756G>A	2.37:g.157185943C>T			Q16311|Q53RZ2|Q6NXU0	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.P263	ENST00000339562.4	37	c.789	CCDS2201.1	2																																																																																			NR4A2	-	prints_Retinoic_acid_rcpt	ENSG00000153234		0.697	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR4A2	HGNC	protein_coding	OTTHUMT00000254909.2	-	0.00	82	0	C			157185943	-1	tier1	-	no_errors	ENST00000539077	ensembl	human	known	74_37	silent	46.30	29	25	SNP	1.000	T
NRAS	4893	genome.wustl.edu	37	1	115252224	115252224	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:115252224A>G	ENST00000369535.4	-	4	669	c.416T>C	c.(415-417)aTt>aCt	p.I139T		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	139					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGAATGGAATCCCGTAACT	0.448		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																														Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	0													226.0	176.0	193.0					1																	115252224		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.416T>C	1.37:g.115252224A>G	ENSP00000358548:p.Ile139Thr		Q14971|Q15104|Q15282	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.I139T	ENST00000369535.4	37	c.416	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	A	19.85	3.903734	0.72754	.	.	ENSG00000213281	ENST00000369535	T	0.78126	-1.15	5.44	5.44	0.79542	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000027	T	0.73055	0.3538	M	0.65975	2.015	0.80722	D	1	B	0.31548	0.328	B	0.38458	0.274	T	0.77629	-0.2516	10	0.72032	D	0.01	.	15.7849	0.78294	1.0:0.0:0.0:0.0	.	139	P01111	RASN_HUMAN	T	139	ENSP00000358548:I139T	ENSP00000358548:I139T	I	-	2	0	NRAS	115053747	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.168000	0.94781	2.179000	0.69175	0.528000	0.53228	ATT	NRAS	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000213281		0.448	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	HGNC	protein_coding	OTTHUMT00000033395.2	-	0.00	137	0	A	NM_002524		115252224	-1	tier1	-	no_errors	ENST00000369535	ensembl	human	known	74_37	missense	6.13	152	10	SNP	1.000	G
NRCAM	4897	genome.wustl.edu	37	7	107790216	107790216	+	3'UTR	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:107790216G>A	ENST00000379028.3	-	0	4524				NRCAM_ENST00000351718.4_3'UTR|NRCAM_ENST00000413765.2_3'UTR|NRCAM_ENST00000379024.4_3'UTR|NRCAM_ENST00000522550.2_5'UTR			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTATGTTTTTGCTGTAACTAT	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000379028.3:c.*139C>T	7.37:g.107790216G>A			A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	RNA	SNP	-	NULL	ENST00000379028.3	37	NULL	CCDS47686.1	7																																																																																			NRCAM	-	-	ENSG00000091129		0.328	NRCAM-202	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding		-	0.00	14	0	G	NM_001037132		107790216	-1	tier1	-	no_errors	ENST00000522550	ensembl	human	known	74_37	rna	46.67	8	7	SNP	0.586	A
NRD1	4898	genome.wustl.edu	37	1	52257299	52257299	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:52257299C>T	ENST00000354831.7	-	29	3304	c.3115G>A	c.(3115-3117)Ggg>Agg	p.G1039R	NRD1_ENST00000539524.1_Missense_Mutation_p.G907R|NRD1_ENST00000352171.7_Missense_Mutation_p.G971R|RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000485608.1_5'UTR|RP4-657D16.3_ENST00000588291.1_RNA	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	970					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CCTAGAATCCCGGATGTGTTC	0.473																																																	0													187.0	166.0	173.0					1																	52257299		2203	4300	6503	SO:0001583	missense	0			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.3115G>A	1.37:g.52257299C>T	ENSP00000346890:p.Gly1039Arg		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.G1039R	ENST00000354831.7	37	c.3115	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978392	0.92982	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169	T;T;T	0.15017	2.46;2.46;2.46	5.21	5.21	0.72293	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.42268	0.1195	M	0.66297	2.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.15925	-1.0420	10	0.56958	D	0.05	-12.7065	17.9262	0.88983	0.0:1.0:0.0:0.0	.	971;970;1039	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	R	971;1039;907;971	ENSP00000262679:G971R;ENSP00000346890:G1039R;ENSP00000444416:G907R	ENSP00000262679:G971R	G	-	1	0	NRD1	52029887	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.320000	0.79064	2.709000	0.92574	0.655000	0.94253	GGG	NRD1	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	ENSG00000078618		0.473	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	-	0.00	67	0	C	NM_002525		52257299	-1	tier1	-	no_errors	ENST00000354831	ensembl	human	known	74_37	missense	40.91	39	27	SNP	1.000	T
NRD1	4898	genome.wustl.edu	37	1	52290994	52290994	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:52290994G>T	ENST00000354831.7	-	8	1394	c.1205C>A	c.(1204-1206)gCt>gAt	p.A402D	NRD1_ENST00000544028.1_Missense_Mutation_p.A202D|NRD1_ENST00000539524.1_Missense_Mutation_p.A270D|NRD1_ENST00000352171.7_Missense_Mutation_p.A334D|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	333					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCCAGGTCTAGCAAGGCTTCC	0.303																																																	0													63.0	63.0	63.0					1																	52290994		2203	4300	6503	SO:0001583	missense	0			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.1205C>A	1.37:g.52290994G>T	ENSP00000346890:p.Ala402Asp		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.A402D	ENST00000354831.7	37	c.1205	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.168113	0.94768	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000546169;ENST00000544028	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.42	5.42	0.78866	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.046559	0.85682	D	0.000000	T	0.70780	0.3263	M	0.92169	3.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.973;0.996;0.996	T	0.78679	-0.2110	10	0.87932	D	0	-13.2721	19.2083	0.93744	0.0:0.0:1.0:0.0	.	334;333;402	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	D	334;402;270;334;202	ENSP00000262679:A334D;ENSP00000346890:A402D;ENSP00000444416:A270D;ENSP00000442262:A202D	ENSP00000262679:A334D	A	-	2	0	NRD1	52063582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.452000	0.97615	2.563000	0.86464	0.655000	0.94253	GCT	NRD1	-	pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16	ENSG00000078618		0.303	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	-	0.00	72	0	G	NM_002525		52290994	-1	tier1	-	no_errors	ENST00000354831	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
NRXN2	9379	genome.wustl.edu	37	11	64453270	64453270	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:64453270C>T	ENST00000377551.1	-	5	1211	c.1000G>A	c.(1000-1002)Gcc>Acc	p.A334T	NRXN2_ENST00000377559.3_Missense_Mutation_p.A310T|NRXN2_ENST00000409571.1_Missense_Mutation_p.A334T|NRXN2_ENST00000265459.6_Missense_Mutation_p.A334T			Q9P2S2	NRX2A_HUMAN	neurexin 2	334	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						ACGTAGTCGGCCGACTTGCCT	0.592																																																	0													288.0	240.0	256.0					11																	64453270		2201	4297	6498	SO:0001583	missense	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1000G>A	11.37:g.64453270C>T	ENSP00000366774:p.Ala334Thr		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A334T	ENST00000377551.1	37	c.1000	CCDS8077.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.2|23.2	4.387877|4.387877	0.82902|0.82902	.|.	.|.	ENSG00000110076|ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000442300|ENST00000437746	T;T;T;T;T|.	0.79141|.	-1.24;-1.14;-1.24;-1.24;-1.24|.	4.0|4.0	4.0|4.0	0.46444|0.46444	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);|.	0.000000|.	0.42053|.	U|.	0.000780|.	T|T	0.49115|0.49115	0.1538|0.1538	N|N	0.20574|0.20574	0.59|0.59	0.58432|0.58432	D|D	0.999998|0.999998	D;P;D|.	0.89917|.	1.0;0.732;0.995|.	D;B;D|.	0.85130|.	0.997;0.306;0.989|.	T|T	0.44112|0.44112	-0.9349|-0.9349	10|5	0.33141|.	T|.	0.24|.	.|.	13.9838|13.9838	0.64321|0.64321	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	310;334;87|.	Q9P2S2-2;Q9P2S2;E7EV67|.	.;NRX2A_HUMAN;.|.	T|D	334;310;334;310;334;105|123	ENSP00000366774:A334T;ENSP00000366782:A310T;ENSP00000265459:A334T;ENSP00000386416:A334T;ENSP00000388971:A105T|.	ENSP00000265459:A334T|.	A|G	-|-	1|2	0|0	NRXN2|NRXN2	64209846|64209846	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.890000|0.890000	0.51754|0.51754	7.814000|7.814000	0.86154|0.86154	1.951000|1.951000	0.56629|0.56629	0.467000|0.467000	0.42956|0.42956	GCC|GGC	NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000110076		0.592	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	-	0.00	97	0	C	NM_015080		64453270	-1	tier1	-	no_errors	ENST00000265459	ensembl	human	known	74_37	missense	39.36	57	37	SNP	1.000	T
NSD1	64324	genome.wustl.edu	37	5	176721015	176721015	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:176721015delG	ENST00000439151.2	+	23	6691	c.6646delG	c.(6646-6648)gggfs	p.G2216fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.G2113fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.G1947fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.G1947fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2216	Pro-rich.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTGGAACCTGGGGAGATCCG	0.562			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													80.0	80.0	80.0					5																	176721015		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6646delG	5.37:g.176721015delG	ENSP00000395929:p.Gly2216fs		Q96PD8|Q96RN7	Frame_Shift_Del	DEL	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E2217fs	ENST00000439151.2	37	c.6646	CCDS4412.1	5																																																																																			NSD1	-	NULL	ENSG00000165671		0.562	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2		0.00	70	0	G	NM_172349		176721015	+1	tier1		no_errors	ENST00000439151	ensembl	human	known	74_37	frame_shift_del	37.74	33	20	DEL	1.000	-
NSD1	64324	genome.wustl.edu	37	5	176721680	176721680	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:176721680A>G	ENST00000439151.2	+	23	7356	c.7311A>G	c.(7309-7311)aaA>aaG	p.K2437K	NSD1_ENST00000361032.4_Silent_p.K2334K|NSD1_ENST00000347982.4_Silent_p.K2168K|NSD1_ENST00000354179.4_Silent_p.K2168K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2437					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTAAAGAAAAAGCACTGAGGC	0.502			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													52.0	58.0	56.0					5																	176721680		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7311A>G	5.37:g.176721680A>G			Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.K2437	ENST00000439151.2	37	c.7311	CCDS4412.1	5																																																																																			NSD1	-	NULL	ENSG00000165671		0.502	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	-	0.00	18	0	A	NM_172349		176721680	+1	tier1	-	no_errors	ENST00000439151	ensembl	human	known	74_37	silent	30.30	22	10	SNP	0.996	G
NSMAF	8439	genome.wustl.edu	37	8	59511868	59511868	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:59511868G>T	ENST00000038176.3	-	19	1720	c.1508C>A	c.(1507-1509)tCt>tAt	p.S503Y	NSMAF_ENST00000519858.1_5'Flank|NSMAF_ENST00000427130.2_Missense_Mutation_p.S534Y	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	503	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				AAGGTGTTCAGACACATAATT	0.373																																																	0													164.0	160.0	161.0					8																	59511868		2203	4300	6503	SO:0001583	missense	0			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1508C>A	8.37:g.59511868G>T	ENSP00000038176:p.Ser503Tyr		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S534Y	ENST00000038176.3	37	c.1601	CCDS6173.1	8	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704116	0.88924	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	D;D	0.83837	-1.77;-1.77	6.17	6.17	0.99709	BEACH domain (4);	0.000000	0.85682	D	0.000000	D	0.95589	0.8566	H	0.99011	4.4	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96481	0.9356	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	534;503	Q92636-2;Q92636	.;FAN_HUMAN	Y	503;534	ENSP00000038176:S503Y;ENSP00000411012:S534Y	.	S	-	2	0	NSMAF	59674422	1.000000	0.71417	0.990000	0.47175	0.706000	0.40770	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TCT	NSMAF	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000035681		0.373	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMAF	HGNC	protein_coding	OTTHUMT00000378384.1	-	0.00	47	0	G	NM_003580		59511868	-1	tier1	-	no_errors	ENST00000427130	ensembl	human	known	74_37	missense	7.69	60	5	SNP	1.000	T
NTAN1	123803	genome.wustl.edu	37	16	15131990	15131990	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:15131990delT	ENST00000287706.3	-	10	923	c.831delA	c.(829-831)aaafs	p.K277fs	PDXDC1_ENST00000535621.2_Intron	NM_001270766.1|NM_173474.3	NP_001257695.1|NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	277					adult locomotory behavior (GO:0008344)|memory (GO:0007613)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-N-terminal asparagine amidohydrolase activity (GO:0008418)	p.K277fs*>34(2)		endometrium(1)|large_intestine(4)|lung(3)	8						GAGATGGGTGTTTTTTTAAAA	0.413																																																	2	Deletion - Frameshift(2)	large_intestine(1)|lung(1)											74.0	75.0	75.0					16																	15131990		2197	4300	6497	SO:0001589	frameshift_variant	0			AF092440	CCDS10558.1, CCDS73832.1	16p13	2008-02-05			ENSG00000157045	ENSG00000157045			29909	protein-coding gene	gene with protein product		615367				8910481	Standard	NM_173474		Approved		uc002ddd.4	Q96AB6	OTTHUMG00000129849	ENST00000287706.3:c.831delA	16.37:g.15131990delT	ENSP00000287706:p.Lys277fs		Q7Z4Z0	Frame_Shift_Del	DEL	NULL	p.K277fs	ENST00000287706.3	37	c.831	CCDS10558.1	16																																																																																			NTAN1	-	NULL	ENSG00000157045		0.413	NTAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTAN1	HGNC	protein_coding	OTTHUMT00000252089.1		0.00	96	0	T	NM_173474		15131990	-1	tier1		no_errors	ENST00000287706	ensembl	human	known	74_37	frame_shift_del	31.63	67	31	DEL	0.819	-
NTM	50863	genome.wustl.edu	37	11	131240692	131240692	+	5'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:131240692delA	ENST00000374791.3	+	0	320				NTM_ENST00000539799.1_5'Flank	NM_001048209.1	NP_001041674.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						aaagaagaagaaaaaaaATCA	0.393																																																	0													72.0	73.0	73.0					11																	131240692		1824	4073	5897	SO:0001623	5_prime_UTR_variant	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374791.3:c.-10A>-	11.37:g.131240692delA			A0MTT2|Q6UXJ3|Q86VJ9	RNA	DEL	-	NULL	ENST00000374791.3	37	NULL	CCDS41733.1	11																																																																																			NTM	-	-	ENSG00000182667		0.393	NTM-002	KNOWN	basic|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141936.2		0.00	37	0	A	NM_016522		131240692	+1	tier1		no_errors	ENST00000477098	ensembl	human	putative	74_37	rna	50.00	18	18	DEL	0.619	-
NTM	50863	genome.wustl.edu	37	11	131530880	131530880	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:131530880delA	ENST00000374791.3	+	2	411				NTM_ENST00000539799.1_Intron|NTM_ENST00000427481.2_5'Flank|AP003039.3_ENST00000416725.1_lincRNA	NM_001048209.1	NP_001041674.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTTAAAGTGGAAAAAAAAATG	0.408																																																	0																																										SO:0001627	intron_variant	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374791.3:c.83-250578A>-	11.37:g.131530880delA			A0MTT2|Q6UXJ3|Q86VJ9	RNA	DEL	-	NULL	ENST00000374791.3	37	NULL	CCDS41733.1	11																																																																																			NTM	-	-	ENSG00000182667		0.408	NTM-002	KNOWN	basic|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141936.2		0.00	18	0	A	NM_016522		131530880	+1	tier1		no_errors	ENST00000477098	ensembl	human	putative	74_37	rna	14.29	30	5	DEL	0.999	-
NTM	50863	genome.wustl.edu	37	11	132205624	132205626	+	3'UTR	DEL	TTT	TTT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:132205624_132205626delTTT	ENST00000374786.1	+	0	2098_2100				NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ACCGTTAAACTTTTTTTTTTTTT	0.291																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.*586TTT>-	11.37:g.132205633_132205635delTTT			A0MTT2|Q6UXJ3|Q86VJ9	RNA	DEL	-	NULL	ENST00000374786.1	37	NULL	CCDS8491.1	11																																																																																			NTM	-	-	ENSG00000182667		0.291	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1		0.00	30	0	TTT	NM_016522		132205626	+1	tier1		no_errors	ENST00000474900	ensembl	human	known	74_37	rna	28.00	18	7	DEL	0.000:0.011:0.009	-
NTM	50863	genome.wustl.edu	37	11	132206462	132206462	+	3'UTR	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:132206462A>T	ENST00000374786.1	+	0	2936				NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374791.3_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GGAATCTCTGATGCCTTTGTG	0.433																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.*1422A>T	11.37:g.132206462A>T			A0MTT2|Q6UXJ3|Q86VJ9	RNA	SNP	-	NULL	ENST00000374786.1	37	NULL	CCDS8491.1	11																																																																																			NTM	-	-	ENSG00000182667		0.433	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTM	HGNC	protein_coding	OTTHUMT00000141937.1	-	0.00	41	0	A	NM_016522		132206462	+1	tier1	-	no_errors	ENST00000474900	ensembl	human	known	74_37	rna	28.89	32	13	SNP	0.999	T
NTN3	4917	genome.wustl.edu	37	16	2522299	2522299	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:2522299delC	ENST00000293973.1	+	1	800	c.597delC	c.(595-597)agcfs	p.S199fs	TBC1D24_ENST00000567020.1_5'Flank|TBC1D24_ENST00000293970.5_5'Flank	NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	199	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						AGGACAGCAGCCCCCCAGGCC	0.687																																																	0													18.0	19.0	19.0					16																	2522299		2192	4295	6487	SO:0001589	frameshift_variant	0			U86759	CCDS10469.1	16p13.3	2013-03-01	2008-10-29	2008-10-29	ENSG00000162068	ENSG00000162068		"""Netrins"""	8030	protein-coding gene	gene with protein product	"""Netrin-3"""	602349	"""netrin 2 (chicken)-like"", ""netrin 2-like (chicken)"""	NTN2L		9143507, 10366627	Standard	NM_006181		Approved		uc002cqj.3	O00634	OTTHUMG00000128867	ENST00000293973.1:c.597delC	16.37:g.2522299delC	ENSP00000293973:p.Ser199fs			Frame_Shift_Del	DEL	pfam_EGF_laminin,pfam_Laminin_N,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.P201fs	ENST00000293973.1	37	c.597	CCDS10469.1	16																																																																																			NTN3	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N	ENSG00000162068		0.687	NTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN3	HGNC	protein_coding	OTTHUMT00000250812.1		0.00	53	0	C	NM_006181		2522299	+1	tier1		no_errors	ENST00000293973	ensembl	human	known	74_37	frame_shift_del	29.55	31	13	DEL	1.000	-
NTRK3	4916	genome.wustl.edu	37	15	88576214	88576214	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:88576214C>T	ENST00000360948.2	-	13	1620	c.1459G>A	c.(1459-1461)Ggc>Agc	p.G487S	NTRK3_ENST00000542733.2_Missense_Mutation_p.G389S|NTRK3_ENST00000557856.1_Missense_Mutation_p.G479S|NTRK3_ENST00000355254.2_Missense_Mutation_p.G487S|NTRK3_ENST00000317501.3_Missense_Mutation_p.G487S|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000540489.2_Missense_Mutation_p.G487S|NTRK3_ENST00000394480.2_Missense_Mutation_p.G487S|NTRK3_ENST00000357724.2_Missense_Mutation_p.G479S|NTRK3_ENST00000558676.1_Missense_Mutation_p.G479S	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	487					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTGGTGATGCCGTGGTTGATG	0.612			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	0													99.0	62.0	74.0					15																	88576214		2201	4299	6500	SO:0001583	missense	0			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1459G>A	15.37:g.88576214C>T	ENSP00000354207:p.Gly487Ser		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G487S	ENST00000360948.2	37	c.1459	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	C	19.20	3.782021	0.70222	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.74106	-0.81;-0.76;-0.73;-0.81;-0.68;-0.38;-0.38	4.71	3.8	0.43715	.	0.056902	0.85682	D	0.000000	T	0.77532	0.4144	M	0.71036	2.16	0.58432	D	0.999996	P;P;D;P;P;D	0.65815	0.858;0.952;0.991;0.952;0.949;0.995	B;B;P;B;B;P	0.49829	0.137;0.207;0.623;0.349;0.374;0.623	T	0.80405	-0.1396	10	0.87932	D	0	.	11.8436	0.52368	0.0:0.9164:0.0:0.0836	.	389;479;479;487;487;487	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	S	487;487;479;487;389;487;487	ENSP00000377990:G487S;ENSP00000354207:G487S;ENSP00000350356:G479S;ENSP00000347397:G487S;ENSP00000437773:G389S;ENSP00000444673:G487S;ENSP00000318328:G487S	ENSP00000318328:G487S	G	-	1	0	NTRK3	86377218	1.000000	0.71417	0.992000	0.48379	0.963000	0.63663	4.376000	0.59556	1.207000	0.43291	0.650000	0.86243	GGC	NTRK3	-	NULL	ENSG00000140538		0.612	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		-	0.00	65	0	C			88576214	-1	tier1	-	no_errors	ENST00000360948	ensembl	human	known	74_37	missense	31.37	35	16	SNP	1.000	T
NUAK1	9891	genome.wustl.edu	37	12	106460763	106460763	+	Silent	SNP	G	G	A	rs149780357	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:106460763G>A	ENST00000261402.2	-	7	3182	c.1803C>T	c.(1801-1803)tgC>tgT	p.C601C		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	601					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CTGCAGAGACGCAGCTGCGGA	0.607													G|||	2	0.000399361	0.0	0.0	5008	,	,		16605	0.0		0.0	False		,,,				2504	0.002																0								G		0,4406		0,0,2203	32.0	39.0	37.0		1803	-4.0	0.9	12	dbSNP_134	37	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NUAK1	NM_014840.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		601/662	106460763	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1803C>T	12.37:g.106460763G>A			A7MD39|Q96KA8	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.C601	ENST00000261402.2	37	c.1803	CCDS31892.1	12																																																																																			NUAK1	-	NULL	ENSG00000074590		0.607	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK1	HGNC	protein_coding	OTTHUMT00000405767.2	-	0.00	36	0	G	NM_014840		106460763	-1	tier1	rs149780357	no_errors	ENST00000261402	ensembl	human	known	74_37	silent	39.22	31	20	SNP	0.973	A
NUAK2	81788	genome.wustl.edu	37	1	205273406	205273406	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:205273406G>T	ENST00000367157.3	-	7	1185	c.1059C>A	c.(1057-1059)ttC>ttA	p.F353L		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCTGCTTGAAGAAGCTGCACA	0.652																																																	0													51.0	50.0	50.0					1																	205273406		2203	4300	6503	SO:0001583	missense	0			AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.1059C>A	1.37:g.205273406G>T	ENSP00000356125:p.Phe353Leu			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F353L	ENST00000367157.3	37	c.1059	CCDS1453.1	1	.	.	.	.	.	.	.	.	.	.	G	7.686	0.690102	0.15039	.	.	ENSG00000163545	ENST00000367157	T	0.70164	-0.46	4.97	4.97	0.65823	Protein kinase-like domain (1);	0.000000	0.47455	D	0.000234	T	0.53318	0.1789	L	0.33668	1.02	0.49299	D	0.999776	B	0.15930	0.015	B	0.15052	0.012	T	0.52381	-0.8583	10	0.02654	T	1	.	17.8282	0.88672	0.0:0.0:1.0:0.0	.	353	Q9H093	NUAK2_HUMAN	L	353	ENSP00000356125:F353L	ENSP00000356125:F353L	F	-	3	2	NUAK2	203540029	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	4.779000	0.62375	2.294000	0.77228	0.511000	0.50034	TTC	NUAK2	-	superfamily_Kinase-like_dom	ENSG00000163545		0.652	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUAK2	HGNC	protein_coding	OTTHUMT00000090390.1	-	0.00	37	0	G	NM_030952		205273406	-1	tier1	-	no_errors	ENST00000367157	ensembl	human	known	74_37	missense	17.24	24	5	SNP	1.000	T
NUB1	51667	genome.wustl.edu	37	7	151046320	151046320	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:151046320delA	ENST00000355851.4	+	3	356	c.279delA	c.(277-279)ctafs	p.L93fs	NUB1_ENST00000568733.1_Frame_Shift_Del_p.L117fs|NUB1_ENST00000566856.1_Frame_Shift_Del_p.L93fs|NUB1_ENST00000413040.2_Frame_Shift_Del_p.L117fs	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	93					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		CACCAAGACTAAAAAAAGTGA	0.358																																																	0													97.0	94.0	95.0					7																	151046320		1825	4086	5911	SO:0001589	frameshift_variant	0			AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.279delA	7.37:g.151046320delA	ENSP00000348110:p.Leu93fs		O95422|Q75MR9|Q8IX22|Q9BXR2	Frame_Shift_Del	DEL	pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.D120fs	ENST00000355851.4	37	c.351		7																																																																																			NUB1	-	NULL	ENSG00000013374		0.358	NUB1-201	KNOWN	basic|appris_principal	protein_coding	NUB1	HGNC	protein_coding			0.00	49	0	A	NM_016118		151046320	+1	tier1		no_errors	ENST00000568733	ensembl	human	known	74_37	frame_shift_del	35.14	24	13	DEL	0.301	-
NUBPL	80224	genome.wustl.edu	37	14	32031398	32031398	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:32031398G>T	ENST00000281081.7	+	2	278	c.233G>T	c.(232-234)gGa>gTa	p.G78V	CTD-2213F21.3_ENST00000548096.1_RNA	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	78					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		GGAAAGGGTGGAGTCGGAAAA	0.368																																																	0													76.0	74.0	74.0					14																	32031398		1838	4087	5925	SO:0001583	missense	0			AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"""Mitochondrial respiratory chain complex assembly factors"""	20278	protein-coding gene	gene with protein product	"""iron-sulfur protein required for NADH dehydrogenase"""	613621	"""chromosome 14 open reading frame 127"""	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.233G>T	14.37:g.32031398G>T	ENSP00000281081:p.Gly78Val		B4DHZ1|Q86TZ4|Q9H9M2	Missense_Mutation	SNP	pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase	p.G78V	ENST00000281081.7	37	c.233	CCDS41940.1	14	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703388	0.68501	.	.	ENSG00000151413	ENST00000550005;ENST00000550649;ENST00000281081;ENST00000551314	T;D;D	0.93859	-0.08;-3.3;-3.16	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.98495	0.9498	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99418	1.0932	10	0.87932	D	0	-24.3006	17.2114	0.86931	0.0:0.0:1.0:0.0	.	78	Q8TB37	NUBPL_HUMAN	V	53;78;78;26	ENSP00000447618:G78V;ENSP00000281081:G78V;ENSP00000447234:G26V	ENSP00000281081:G78V	G	+	2	0	NUBPL	31101149	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.554000	0.82212	2.804000	0.96469	0.462000	0.41574	GGA	NUBPL	-	pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase	ENSG00000151413		0.368	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUBPL	HGNC	protein_coding	OTTHUMT00000409519.1		0.00	24	0	G	NM_025152		32031398	+1			no_errors	ENST00000281081	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	T
NUDC	10726	genome.wustl.edu	37	1	27272047	27272047	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:27272047G>A	ENST00000321265.5	+	8	948				NUDC_ENST00000484772.1_3'UTR	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein						cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		TCCTGTCACTGCCTGCCCTCA	0.562																																																	0													74.0	71.0	72.0					1																	27272047		2203	4300	6503	SO:0001627	intron_variant	0				CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"""nuclear distribution gene C homolog (A. nidulans)"", ""nuclear distribution C homolog (A. nidulans)"""				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.826-12G>A	1.37:g.27272047G>A			Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	RNA	SNP	-	NULL	ENST00000321265.5	37	NULL	CCDS292.1	1																																																																																			NUDC	-	-	ENSG00000090273		0.562	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDC	HGNC	protein_coding	OTTHUMT00000012172.2	-	0.00	59	0	G			27272047	+1	tier1	-	no_errors	ENST00000484772	ensembl	human	known	74_37	rna	26.79	41	15	SNP	0.000	A
NUMA1	4926	genome.wustl.edu	37	11	71730662	71730662	+	Splice_Site	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:71730662A>G	ENST00000393695.3	-	9	793	c.462T>C	c.(460-462)gcT>gcC	p.A154A	NUMA1_ENST00000351960.6_Splice_Site_p.A154A|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Splice_Site_p.A154A	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AAGGCACAGGAGCTGGGGGTA	0.463			T	RARA	APL																																			Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													81.0	79.0	80.0					11																	71730662		2200	4293	6493	SO:0001630	splice_region_variant	0			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.461-1T>C	11.37:g.71730662A>G				Silent	SNP	superfamily_Prefoldin	p.A154	ENST00000393695.3	37	c.462	CCDS31633.1	11																																																																																			NUMA1	-	NULL	ENSG00000137497		0.463	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	HGNC	protein_coding	OTTHUMT00000395769.1	-	0.00	55	0	A		Silent	71730662	-1	tier1	-	no_errors	ENST00000393695	ensembl	human	known	74_37	silent	36.96	29	17	SNP	1.000	G
NUP107	57122	genome.wustl.edu	37	12	69126366	69126366	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:69126366delA	ENST00000229179.4	+	23	2330				NUP107_ENST00000539906.1_Intron|NUP107_ENST00000378905.2_Intron|NUP107_ENST00000401003.3_3'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GAATATCTTTAAAAAAAAAAC	0.284																																																	0										101,187,3890		5,0,91,9,169,1815						-4.4	0.0			11	121,370,7717		1,0,119,6,358,3620	no	intron	NUP107	NM_020401.2		6,0,210,15,527,5435	A1A1,A1A2,A1R,A2A2,A2R,RR		5.982,6.8933,6.2894				222,557,11607				SO:0001627	intron_variant	0			AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1999-51A>-	12.37:g.69126366delA			B4DZ67|Q6PJE1	RNA	DEL	-	NULL	ENST00000229179.4	37	NULL	CCDS8985.1	12																																																																																			NUP107	-	-	ENSG00000111581		0.284	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP107	HGNC	protein_coding	OTTHUMT00000403195.1		0.00	36	0	A	NM_020401		69126366	+1	tier1		no_errors	ENST00000401003	ensembl	human	known	74_37	rna	58.97	16	23	DEL	0.000	-
NUP133	55746	genome.wustl.edu	37	1	229586482	229586483	+	Intron	INS	-	-	TT	rs544459417|rs202192292	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:229586482_229586483insTT	ENST00000261396.3	-	23	3191				NUP133_ENST00000485119.1_5'UTR|NUP133_ENST00000537506.1_Intron	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ttgtttgtttgttttttttgag	0.381																																																	0																																										SO:0001627	intron_variant	0				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.3100-130->AA	1.37:g.229586489_229586490dupTT			B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	RNA	INS	-	NULL	ENST00000261396.3	37	NULL	CCDS1579.1	1																																																																																			NUP133	-	-	ENSG00000069248		0.381	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP133	HGNC	protein_coding	OTTHUMT00000095224.1		0.00	11	0	-	NM_018230		229586483	-1	tier1		no_errors	ENST00000485119	ensembl	human	known	74_37	rna	16.67	10	2	INS	0.004:0.002	TT
NUP210	23225	genome.wustl.edu	37	3	13361314	13361314	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:13361314C>T	ENST00000254508.5	-	37	5414	c.5332G>A	c.(5332-5334)Gcc>Acc	p.A1778T		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1778					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ACTGGGATGGCAATGGCTTGG	0.622																																																	0													85.0	74.0	78.0					3																	13361314		2203	4300	6503	SO:0001583	missense	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5332G>A	3.37:g.13361314C>T	ENSP00000254508:p.Ala1778Thr		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.A1778T	ENST00000254508.5	37	c.5332	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	C	1.245	-0.620337	0.03636	.	.	ENSG00000132182	ENST00000254508	T	0.04706	3.57	5.66	0.201	0.15186	.	0.440276	0.25073	N	0.033342	T	0.01092	0.0036	N	0.00368	-1.59	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.47394	-0.9121	10	0.20519	T	0.43	-24.359	4.9977	0.14247	0.2296:0.1281:0.0:0.6423	.	1778	Q8TEM1	PO210_HUMAN	T	1778	ENSP00000254508:A1778T	ENSP00000254508:A1778T	A	-	1	0	NUP210	13336314	1.000000	0.71417	0.299000	0.25016	0.004000	0.04260	1.166000	0.31834	0.088000	0.17205	-1.004000	0.02495	GCC	NUP210	-	NULL	ENSG00000132182		0.622	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	-	0.00	91	0	C	NM_024923		13361314	-1	tier1	-	no_errors	ENST00000254508	ensembl	human	known	74_37	missense	47.14	37	33	SNP	0.987	T
NUP210	23225	genome.wustl.edu	37	3	13417860	13417860	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:13417860G>A	ENST00000254508.5	-	10	1306	c.1224C>T	c.(1222-1224)taC>taT	p.Y408Y		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	408					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.Y408*(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGATGCGATGGTATGACCCAT	0.577																																																	1	Substitution - Nonsense(1)	endometrium(1)											145.0	113.0	124.0					3																	13417860		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.1224C>T	3.37:g.13417860G>A			A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.Y408	ENST00000254508.5	37	c.1224	CCDS33704.1	3																																																																																			NUP210	-	NULL	ENSG00000132182		0.577	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	-	0.00	125	0	G	NM_024923		13417860	-1	tier1	-	no_errors	ENST00000254508	ensembl	human	known	74_37	silent	40.91	78	54	SNP	0.998	A
NUP210L	91181	genome.wustl.edu	37	1	153965404	153965404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:153965404delA	ENST00000368559.3	-	40	5645	c.5574delT	c.(5572-5574)tttfs	p.F1858fs	NUP210L_ENST00000368553.1_Frame_Shift_Del_p.F639fs|NUP210L_ENST00000271854.3_Frame_Shift_Del_p.F1706fs	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1858				FNSTSSPPHFMSLQP -> LTPQVLPLTS (in Ref. 1; BAC86345). {ECO:0000305}.	Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTGTGGAGTTAAAAAAACCTA	0.438																																																	0													151.0	147.0	148.0					1																	153965404		1864	4081	5945	SO:0001589	frameshift_variant	0			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.5574delT	1.37:g.153965404delA	ENSP00000357547:p.Phe1858fs		E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Frame_Shift_Del	DEL	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.F1858fs	ENST00000368559.3	37	c.5574	CCDS41399.1	1																																																																																			NUP210L	-	NULL	ENSG00000143552		0.438	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3		0.00	66	0	A	NM_207308		153965404	-1	tier1		no_errors	ENST00000368559	ensembl	human	known	74_37	frame_shift_del	27.96	67	26	DEL	0.000	-
NUP210L	91181	genome.wustl.edu	37	1	153965412	153965412	+	Splice_Site	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:153965412C>A	ENST00000368559.3	-	40	5638		c.e40-1		NUP210L_ENST00000368553.1_Splice_Site|NUP210L_ENST00000271854.3_Splice_Site	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like						Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTAAAAAAACCTAGAAGAAGA	0.433																																																	0													147.0	143.0	144.0					1																	153965412		1868	4082	5950	SO:0001630	splice_region_variant	0			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.5567-1G>T	1.37:g.153965412C>A			E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Splice_Site	SNP	-	e40-1	ENST00000368559.3	37	c.5567-1	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247325	0.39697	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7635	0.51918	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP210L	152232036	1.000000	0.71417	0.632000	0.29296	0.127000	0.20565	3.338000	0.52128	2.123000	0.65237	0.585000	0.79938	.	NUP210L	-	-	ENSG00000143552		0.433	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	-	0.00	58	0	C	NM_207308	Intron	153965412	-1	tier1	-	no_errors	ENST00000368559	ensembl	human	known	74_37	splice_site	31.25	65	30	SNP	0.930	A
NUP214	8021	genome.wustl.edu	37	9	134072693	134072693	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:134072693G>T	ENST00000359428.5	+	29	3956	c.3812G>T	c.(3811-3813)aGc>aTc	p.S1271I	NUP214_ENST00000411637.2_Missense_Mutation_p.S1261I|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000483497.2_Missense_Mutation_p.S97I|NUP214_ENST00000451030.1_Missense_Mutation_p.S1272I			P35658	NU214_HUMAN	nucleoporin 214kDa	1271	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ATTCCTGAAAGCTCACCTCCC	0.547			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)			Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													105.0	98.0	100.0					9																	134072693		2203	4300	6503	SO:0001583	missense	0			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3812G>T	9.37:g.134072693G>T	ENSP00000352400:p.Ser1271Ile		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	smart_WD40_repeat	p.S1272I	ENST00000359428.5	37	c.3815	CCDS6940.1	9	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414604	0.62511	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.54479	1.4;1.4;1.4;0.64;0.57	5.68	3.83	0.44106	.	0.300731	0.24611	N	0.037042	T	0.45816	0.1361	N	0.08118	0	0.09310	N	1	D;D;D;D;D	0.71674	0.993;0.998;0.958;0.98;0.958	P;D;P;P;P	0.64877	0.804;0.93;0.748;0.804;0.748	T	0.25117	-1.0141	10	0.41790	T	0.15	-7.6073	7.1	0.25332	0.1613:0.1426:0.6961:0.0	.	97;700;865;1261;1271	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	I	1271;1261;1272;1250;865;700;97;48;48	ENSP00000352400:S1271I;ENSP00000396576:S1261I;ENSP00000405014:S1272I;ENSP00000436793:S97I;ENSP00000435364:S48I	ENSP00000352400:S1271I	S	+	2	0	NUP214	133062514	0.450000	0.25697	0.063000	0.19743	0.188000	0.23474	2.770000	0.47662	0.740000	0.32651	0.563000	0.77884	AGC	NUP214	-	NULL	ENSG00000126883		0.547	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2		0.00	62	0	G	NM_005085		134072693	+1			no_errors	ENST00000451030	ensembl	human	known	74_37	missense	6.25	59	4	SNP	0.019	T
NUP88	4927	genome.wustl.edu	37	17	5294889	5294889	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:5294889C>A	ENST00000573584.1	-	10	1985	c.1476G>T	c.(1474-1476)tgG>tgT	p.W492C		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	492					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						ACAATAACGGCCATATGAGGC	0.428																																																	0													139.0	117.0	124.0					17																	5294889		2203	4300	6503	SO:0001583	missense	0			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.1476G>T	17.37:g.5294889C>A	ENSP00000458954:p.Trp492Cys		D3DTM2|Q9BWE5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup88	p.W492C	ENST00000573584.1	37	c.1476	CCDS11070.1	17	.	.	.	.	.	.	.	.	.	.	C	5.308	0.242209	0.10077	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.76	0.252	0.15545	.	0.260013	0.37095	N	0.002253	T	0.25531	0.0621	N	0.08118	0	0.40058	D	0.97586	B;B;B	0.33826	0.001;0.004;0.427	B;B;B	0.40565	0.002;0.002;0.333	T	0.03684	-1.1013	9	0.37606	T	0.19	-4.9301	4.3899	0.11335	0.155:0.569:0.0:0.276	.	492;361;492	B7Z5I6;B4DP20;Q99567	.;.;NUP88_HUMAN	C	492;361	.	ENSP00000225696:W492C	W	-	3	0	NUP88	5235613	0.997000	0.39634	0.640000	0.29408	0.009000	0.06853	0.683000	0.25349	-0.001000	0.14495	0.591000	0.81541	TGG	NUP88	-	pfam_Nucleoporin_Nup88	ENSG00000108559		0.428	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP88	HGNC	protein_coding	OTTHUMT00000216918.3	-	0.00	73	0	C	NM_002532		5294889	-1	tier1	-	no_errors	ENST00000573584	ensembl	human	known	74_37	missense	40.35	33	23	SNP	0.995	A
NUPL2	11097	genome.wustl.edu	37	7	23224773	23224773	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:23224773delG	ENST00000258742.5	+	2	465	c.206delG	c.(205-207)tggfs	p.W69fs	AC005082.1_ENST00000366347.4_Intron|NUPL2_ENST00000410002.3_Frame_Shift_Del_p.W69fs|NUPL2_ENST00000487595.1_3'UTR	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	69					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclear export signal receptor activity (GO:0005049)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCACACCATGGGGGGGCAGC	0.408																																																	0													85.0	87.0	86.0					7																	23224773		2203	4300	6503	SO:0001589	frameshift_variant	0			U97198	CCDS5379.1	7p15	2003-08-07			ENSG00000136243	ENSG00000136243			17010	protein-coding gene	gene with protein product	"""nucleoporin-like protein 1"""					10358091, 9450185	Standard	NM_007342		Approved	NLP_1, CG1, hCG1, H_RG271G13.9	uc003svu.3	O15504	OTTHUMG00000096955	ENST00000258742.5:c.206delG	7.37:g.23224773delG	ENSP00000258742:p.Trp69fs		A4D143|B4DP42|Q49AE7|Q9BS49	Frame_Shift_Del	DEL	smart_Znf_CCCH	p.G71fs	ENST00000258742.5	37	c.206	CCDS5379.1	7																																																																																			NUPL2	-	NULL	ENSG00000136243		0.408	NUPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUPL2	HGNC	protein_coding	OTTHUMT00000214017.2		0.00	56	0	G	NM_007342		23224773	+1	tier1		no_errors	ENST00000258742	ensembl	human	known	74_37	frame_shift_del	19.35	25	6	DEL	1.000	-
NYNRIN	57523	genome.wustl.edu	37	14	24885036	24885036	+	Missense_Mutation	SNP	G	G	A	rs375921086		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:24885036G>A	ENST00000382554.3	+	9	4399	c.4081G>A	c.(4081-4083)Ggc>Agc	p.G1361S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1361					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CGTGGCCTGCGGCCTGGAGCG	0.627																																																	0								G	SER/GLY	0,3916		0,0,1958	68.0	73.0	71.0		4081	4.9	1.0	14		71	1,8283		0,1,4141	no	missense	NYNRIN	NM_025081.2	56	0,1,6099	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	1361/1899	24885036	1,12199	1958	4142	6100	SO:0001583	missense	0			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.4081G>A	14.37:g.24885036G>A	ENSP00000371994:p.Gly1361Ser		Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.G1361S	ENST00000382554.3	37	c.4081	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831482	0.71258	0.0	1.21E-4	ENSG00000205978	ENST00000382554	T	0.11169	2.8	4.93	4.93	0.64822	Ribonuclease H-like (1);	.	.	.	.	T	0.11067	0.0270	N	0.24115	0.695	0.31238	N	0.695507	P	0.52842	0.956	B	0.44278	0.445	T	0.02333	-1.1175	9	0.59425	D	0.04	.	15.6876	0.77424	0.0:0.0:1.0:0.0	.	1361	Q9P2P1	NYNRI_HUMAN	S	1361	ENSP00000371994:G1361S	ENSP00000371994:G1361S	G	+	1	0	NYNRIN	23954876	1.000000	0.71417	0.955000	0.39395	0.972000	0.66771	4.281000	0.58965	2.551000	0.86045	0.655000	0.94253	GGC	NYNRIN	-	superfamily_RNaseH-like_dom	ENSG00000205978		0.627	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	-	0.00	76	0	G			24885036	+1	tier1	-	no_errors	ENST00000382554	ensembl	human	known	74_37	missense	30.65	42	19	SNP	0.996	A
OAS2	4939	genome.wustl.edu	37	12	113442830	113442830	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:113442830delA	ENST00000342315.4	+	7	1485	c.1271delA	c.(1270-1272)caafs	p.Q424fs	OAS2_ENST00000392583.2_Frame_Shift_Del_p.Q424fs|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	424	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TACACCTCCCAAAAAAACGAG	0.502																																					Pancreas(199;709 2232 18410 33584 35052)												0													85.0	80.0	81.0					12																	113442830		2203	4300	6503	SO:0001589	frameshift_variant	0			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1271delA	12.37:g.113442830delA	ENSP00000342278:p.Gln424fs		A8K9T1|Q6PJ33|Q86XX8	Frame_Shift_Del	DEL	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.N426fs	ENST00000342315.4	37	c.1271	CCDS31906.1	12																																																																																			OAS2	-	pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	ENSG00000111335		0.502	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1		0.00	26	0	A			113442830	+1	tier1		no_errors	ENST00000342315	ensembl	human	known	74_37	frame_shift_del	38.10	26	16	DEL	0.000	-
OAT	4942	genome.wustl.edu	37	10	126091634	126091634	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:126091634delA	ENST00000368845.5	-	7	864				OAT_ENST00000539214.1_Intron|OAT_ENST00000467675.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	CCTATTGGGGAAAAAAAATAC	0.398																																																	0													63.0	72.0	69.0					10																	126091634		2200	4292	6492	SO:0001627	intron_variant	0			BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.772-10T>-	10.37:g.126091634delA			D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	RNA	DEL	-	NULL	ENST00000368845.5	37	NULL	CCDS7639.1	10																																																																																			OAT	-	-	ENSG00000065154		0.398	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAT	HGNC	protein_coding	OTTHUMT00000050863.1		0.00	50	0	A	NM_000274		126091634	-1	tier1		no_errors	ENST00000471127	ensembl	human	known	74_37	rna	30.77	27	12	DEL	0.000	-
OBSCN	84033	genome.wustl.edu	37	1	228402129	228402129	+	Missense_Mutation	SNP	G	G	A	rs375898060		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:228402129G>A	ENST00000422127.1	+	4	1557	c.1513G>A	c.(1513-1515)Gtg>Atg	p.V505M	C1orf145_ENST00000295012.5_5'Flank|OBSCN_ENST00000570156.2_Missense_Mutation_p.V505M|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V505M|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	505	Ig-like 5.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAGTTCTGCGTGTCGGGTGA	0.647																																																	0								G	MET/VAL,MET/VAL	0,4328		0,0,2164	70.0	80.0	77.0		1513,1513	5.1	1.0	1		77	2,8484		0,2,4241	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	21,21	0,2,6405	AA,AG,GG		0.0236,0.0,0.0156	probably-damaging,probably-damaging	505/7969,505/6621	228402129	2,12812	2164	4243	6407	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.1513G>A	1.37:g.228402129G>A	ENSP00000409493:p.Val505Met		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.V505M	ENST00000422127.1	37	c.1513	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014102	0.75161	0.0	2.36E-4	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.69561	-0.05;-0.41	5.14	5.14	0.70334	Fibronectin, type III (1);	0.000000	0.64402	D	0.000005	D	0.85843	0.5791	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.88163	0.2859	10	0.51188	T	0.08	.	18.5794	0.91166	0.0:0.0:1.0:0.0	.	505;505	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	505	ENSP00000284548:V505M;ENSP00000409493:V505M	ENSP00000284548:V505M	V	+	1	0	OBSCN	226468752	1.000000	0.71417	0.989000	0.46669	0.863000	0.49368	7.542000	0.82095	2.377000	0.81083	0.563000	0.77884	GTG	OBSCN	-	superfamily_Fibronectin_type3,smart_Ig_sub	ENSG00000154358		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0.00	124	0	G	NM_052843		228402129	+1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	21.49	95	26	SNP	1.000	A
OBSCN	84033	genome.wustl.edu	37	1	228552687	228552687	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:228552687delC	ENST00000422127.1	+	81	18891	c.18847delC	c.(18847-18849)cccfs	p.P6284fs	OBSCN_ENST00000366707.4_Frame_Shift_Del_p.P3918fs|OBSCN_ENST00000570156.2_Frame_Shift_Del_p.P7241fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6284					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCAGCCGTGCCCCCGAGGGT	0.662																																																	0													13.0	19.0	17.0					1																	228552687		2095	4197	6292	SO:0001589	frameshift_variant	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18847delC	1.37:g.228552687delC	ENSP00000409493:p.Pro6284fs		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.P6284fs	ENST00000422127.1	37	c.18847	CCDS58065.1	1																																																																																			OBSCN	-	NULL	ENSG00000154358		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding			0.00	122	0	C	NM_052843		228552687	+1	tier1		no_errors	ENST00000422127	ensembl	human	known	74_37	frame_shift_del	23.48	101	31	DEL	0.000	-
OBSCN	84033	genome.wustl.edu	37	1	228560743	228560743	+	Missense_Mutation	SNP	G	G	A	rs375115158		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:228560743G>A	ENST00000422127.1	+	94	22308	c.22264G>A	c.(22264-22266)Gtg>Atg	p.V7422M	OBSCN_ENST00000366707.4_Missense_Mutation_p.V5056M|OBSCN_ENST00000570156.2_Missense_Mutation_p.V8379M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7422					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAAGGCCTCCGTGGAGCACAT	0.652																																																	0								G	MET/VAL	0,4170		0,0,2085	21.0	25.0	24.0		22264	2.3	0.5	1		24	1,8397		0,1,4198	no	missense	OBSCN	NM_001098623.1	21	0,1,6283	AA,AG,GG		0.0119,0.0,0.0080	possibly-damaging	7422/7969	228560743	1,12567	2085	4199	6284	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.22264G>A	1.37:g.228560743G>A	ENSP00000409493:p.Val7422Met		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.V7422M	ENST00000422127.1	37	c.22264	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.94|19.94	3.920225|3.920225	0.73098|0.73098	0.0|0.0	1.19E-4|1.19E-4	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|T;T	.|0.71222	.|-0.55;-0.52	5.44|5.44	2.33|2.33	0.28932|0.28932	.|.	.|.	.|.	.|.	.|.	T|T	0.45034|0.45034	0.1322|0.1322	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|P	.|0.35793	.|0.521	.|B	.|0.18561	.|0.022	T|T	0.18999|0.18999	-1.0319|-1.0319	5|9	.|0.34782	.|T	.|0.22	.|.	5.8378|5.8378	0.18617|0.18617	0.3865:0.0:0.6135:0.0|0.3865:0.0:0.6135:0.0	.|.	.|7422	.|Q5VST9	.|OBSCN_HUMAN	H|M	2038|7422;5056	.|ENSP00000409493:V7422M;ENSP00000355668:V5056M	.|ENSP00000355668:V5056M	R|V	+|+	2|1	0|0	OBSCN|OBSCN	226627366|226627366	0.724000|0.724000	0.28038|0.28038	0.486000|0.486000	0.27416|0.27416	0.736000|0.736000	0.42039|0.42039	0.949000|0.949000	0.29109|0.29109	0.156000|0.156000	0.19299|0.19299	0.462000|0.462000	0.41574|0.41574	CGT|GTG	OBSCN	-	NULL	ENSG00000154358		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0.00	32	0	G	NM_052843		228560743	+1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	32.14	19	9	SNP	0.792	A
OBSL1	23363	genome.wustl.edu	37	2	220416864	220416864	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:220416864C>T	ENST00000404537.1	-	19	5439	c.5383G>A	c.(5383-5385)Gcc>Acc	p.A1795T	MIR3132_ENST00000581997.1_RNA|OBSL1_ENST00000265318.4_3'UTR|OBSL1_ENST00000373876.1_Missense_Mutation_p.A1703T	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1795	Ig-like 14.				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)		AGGGACTGGGCGGGCCCCGCC	0.642																																																	0													15.0	17.0	17.0					2																	220416864		1907	4092	5999	SO:0001583	missense	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.5383G>A	2.37:g.220416864C>T	ENSP00000385636:p.Ala1795Thr		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A1795T	ENST00000404537.1	37	c.5383	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480192	0.63849	.	.	ENSG00000124006	ENST00000404537;ENST00000373876	T;T	0.44881	0.91;0.91	4.86	4.86	0.63082	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45337	0.1337	L	0.43598	1.365	0.80722	D	1	D	0.59767	0.986	P	0.57204	0.815	T	0.15867	-1.0422	9	0.13853	T	0.58	.	11.1203	0.48287	0.0:0.9106:0.0:0.0894	.	1795	O75147	OBSL1_HUMAN	T	1795;1703	ENSP00000385636:A1795T;ENSP00000362983:A1703T	ENSP00000362983:A1703T	A	-	1	0	OBSL1	220125108	0.992000	0.36948	1.000000	0.80357	0.997000	0.91878	2.133000	0.42093	2.516000	0.84829	0.655000	0.94253	GCC	OBSL1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000124006		0.642	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	-	0.00	19	0	C			220416864	-1	tier1	-	no_errors	ENST00000404537	ensembl	human	known	74_37	missense	50.00	9	9	SNP	1.000	T
OBSL1	23363	genome.wustl.edu	37	2	220432447	220432447	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:220432447T>G	ENST00000404537.1	-	3	1583	c.1527A>C	c.(1525-1527)agA>agC	p.R509S	OBSL1_ENST00000491370.1_5'Flank|OBSL1_ENST00000289656.3_Missense_Mutation_p.R96S|OBSL1_ENST00000265318.4_Missense_Mutation_p.R509S|OBSL1_ENST00000373876.1_Missense_Mutation_p.R509S|OBSL1_ENST00000373873.4_Missense_Mutation_p.R509S|OBSL1_ENST00000603926.1_Missense_Mutation_p.R509S	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	509					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)		CACATTTTACTCTGAGAAGCG	0.597																																																	0													52.0	58.0	56.0					2																	220432447		2120	4217	6337	SO:0001583	missense	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1527A>C	2.37:g.220432447T>G	ENSP00000385636:p.Arg509Ser		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R509S	ENST00000404537.1	37	c.1527	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	T	13.82	2.352276	0.41700	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	4.55	3.38	0.38709	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83128	0.5187	M	0.69823	2.125	0.42717	D	0.993667	D;P;D	0.89917	0.991;0.948;1.0	D;P;D	0.91635	0.992;0.666;0.999	T	0.81549	-0.0882	9	0.40728	T	0.16	.	4.3802	0.11290	0.2434:0.1027:0.0:0.6539	.	509;96;509	O75147;A8MSZ8;O75147-2	OBSL1_HUMAN;.;.	S	509;509;509;509;96	ENSP00000265318:R509S;ENSP00000385636:R509S;ENSP00000362983:R509S;ENSP00000362980:R509S;ENSP00000289656:R96S	ENSP00000265318:R509S	R	-	3	2	OBSL1	220140691	0.991000	0.36638	1.000000	0.80357	0.483000	0.33249	0.150000	0.16263	1.904000	0.55121	0.397000	0.26171	AGA	OBSL1	-	smart_Ig_sub	ENSG00000124006		0.597	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	-	0.00	80	0	T			220432447	-1	tier1	-	no_errors	ENST00000404537	ensembl	human	known	74_37	missense	43.33	34	26	SNP	0.981	G
OCIAD1	54940	genome.wustl.edu	37	4	48859372	48859372	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:48859372delA	ENST00000381473.3	+	8	1108	c.690delA	c.(688-690)ccafs	p.P230fs	OCIAD1_ENST00000425583.2_Intron|OCIAD1_ENST00000513391.2_Frame_Shift_Del_p.P230fs|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000508293.1_Frame_Shift_Del_p.P230fs|OCIAD1_ENST00000396448.2_Intron|OCIAD1_ENST00000444354.2_Intron|OCIAD1_ENST00000509122.1_Frame_Shift_Del_p.P203fs|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000264312.7_Frame_Shift_Del_p.P230fs	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	230						endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						AAAGAGTGCCAAAAAAAGAAG	0.303																																																	0													55.0	58.0	57.0					4																	48859372		2203	4297	6500	SO:0001589	frameshift_variant	0			AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.690delA	4.37:g.48859372delA	ENSP00000370882:p.Pro230fs		C9K030|G8JLN7|Q9BZE8	Frame_Shift_Del	DEL	pfam_OCIA	p.E233fs	ENST00000381473.3	37	c.690	CCDS3484.1	4																																																																																			OCIAD1	-	NULL	ENSG00000109180		0.303	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCIAD1	HGNC	protein_coding	OTTHUMT00000361812.3		0.00	75	0	A	NM_017830		48859372	+1	tier1		no_errors	ENST00000264312	ensembl	human	known	74_37	frame_shift_del	30.19	37	16	DEL	0.300	-
OCIAD2	132299	genome.wustl.edu	37	4	48887522	48887522	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:48887522G>T	ENST00000508632.1	-	7	676	c.444C>A	c.(442-444)gaC>gaA	p.D148E	OCIAD2_ENST00000273860.4_3'UTR|OCIAD2_ENST00000508069.2_5'UTR	NM_001014446.1	NP_001014446.1	Q56VL3	OCAD2_HUMAN	OCIA domain containing 2	148						endosome (GO:0005768)|mitochondrial inner membrane (GO:0005743)				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						AAGGCTGAGAGTCTCCCTTCT	0.368																																																	0													185.0	180.0	182.0					4																	48887522		2203	4300	6503	SO:0001583	missense	0			BC032808	CCDS3485.1, CCDS33981.1	4p12	2013-10-11			ENSG00000145247	ENSG00000145247			28685	protein-coding gene	gene with protein product						17054434	Standard	NM_001286774		Approved	MGC45416	uc003gyt.3	Q56VL3	OTTHUMG00000128626	ENST00000508632.1:c.444C>A	4.37:g.48887522G>T	ENSP00000423014:p.Asp148Glu		B4DPE7|Q8N544	Missense_Mutation	SNP	pfam_OCIA	p.D148E	ENST00000508632.1	37	c.444	CCDS33981.1	4	.	.	.	.	.	.	.	.	.	.	G	5.308	0.242112	0.10077	.	.	ENSG00000145247	ENST00000508632	T	0.41758	0.99	5.25	-4.51	0.03483	.	0.562361	0.17338	N	0.177837	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18178	-1.0345	9	.	.	.	1.3177	6.0446	0.19752	0.3698:0.2579:0.3723:0.0	.	148	Q56VL3	OCAD2_HUMAN	E	148	ENSP00000423014:D148E	.	D	-	3	2	OCIAD2	48582279	0.006000	0.16342	0.000000	0.03702	0.004000	0.04260	-0.089000	0.11180	-1.031000	0.03308	-0.302000	0.09304	GAC	OCIAD2	-	NULL	ENSG00000145247		0.368	OCIAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OCIAD2	HGNC	protein_coding	OTTHUMT00000361984.5	-	0.00	48	0	G	NM_152398		48887522	-1	tier1	-	no_errors	ENST00000508632	ensembl	human	known	74_37	missense	20.00	48	12	SNP	0.000	T
OCLN	100506658	genome.wustl.edu	37	5	68805316	68805316	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:68805316C>T	ENST00000355237.2	+	3	835	c.399C>T	c.(397-399)gaC>gaT	p.D133D	OCLN_ENST00000538151.1_Intron|OCLN_ENST00000380766.2_Silent_p.D133D|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000396442.2_Silent_p.D133D	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	133	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCTATACAGACCCAAGAGCAG	0.483																																																	0													138.0	100.0	113.0					5																	68805316		2203	4300	6503	SO:0001819	synonymous_variant	0			U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.399C>T	5.37:g.68805316C>T			B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Silent	SNP	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel,pirsf_Occludin,prints_Occludin	p.D133	ENST00000355237.2	37	c.399	CCDS4006.1	5																																																																																			OCLN	-	pfam_Marvel,pirsf_Occludin	ENSG00000197822		0.483	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCLN	HGNC	protein_coding	OTTHUMT00000216794.1	-	0.00	100	0	C	NM_002538		68805316	+1	tier1	-	no_errors	ENST00000355237	ensembl	human	known	74_37	silent	43.21	46	35	SNP	0.998	T
OCSTAMP	128506	genome.wustl.edu	37	20	45174347	45174347	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:45174347C>T	ENST00000279028.2	-	2	679	c.666G>A	c.(664-666)gcG>gcA	p.A222A		NM_080721.1	NP_542452.1	Q9BR26	OCSTP_HUMAN	osteoclast stimulatory transmembrane protein	222					cellular response to estrogen stimulus (GO:0071391)|cellular response to tumor necrosis factor (GO:0071356)|multinuclear osteoclast differentiation (GO:0072674)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of osteoclast proliferation (GO:0090290)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)	2						GGGTCCCTAGCGCTGCTGCCC	0.602																																																	0													42.0	43.0	43.0					20																	45174347		692	1591	2283	SO:0001819	synonymous_variant	0			AL034424	CCDS54468.1	20q13.12	2012-03-27	2012-03-27	2012-03-27	ENSG00000149635	ENSG00000149635			16116	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 123"""	C20orf123		18064667	Standard	NM_080721		Approved	dJ257E24.3	uc010zxu.2	Q9BR26	OTTHUMG00000032652	ENST00000279028.2:c.666G>A	20.37:g.45174347C>T				Silent	SNP	pfam_DC_STAMP-like	p.A222	ENST00000279028.2	37	c.666	CCDS54468.1	20																																																																																			OCSTAMP	-	NULL	ENSG00000149635		0.602	OCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCSTAMP	HGNC	protein_coding	OTTHUMT00000079573.2	-	0.00	30	0	C	XM_496476		45174347	-1	tier1	-	no_errors	ENST00000279028	ensembl	human	known	74_37	silent	52.38	10	11	SNP	0.000	T
OGFOD1	55239	genome.wustl.edu	37	16	56492432	56492433	+	Intron	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:56492432_56492433insT	ENST00000566157.1	+	3	423				OGFOD1_ENST00000565209.1_3'UTR|OGFOD1_ENST00000568397.1_Intron	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1						cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	AAGGAAATCCCTTTTTTTTCTC	0.401																																																	0										2,4262		0,2,2130						1.4	0.0			117	5,8249		0,5,4122	no	intron	OGFOD1	NM_018233.3		0,7,6252	A1A1,A1R,RR		0.0606,0.0469,0.0559				7,12511				SO:0001627	intron_variant	0			BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.301-27->T	16.37:g.56492440_56492440dupT			H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Frame_Shift_Ins	INS	NULL	p.S106fs	ENST00000566157.1	37	c.308_309	CCDS10761.2	16																																																																																			OGFOD1	-	NULL	ENSG00000087263		0.401	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFOD1	HGNC	protein_coding	OTTHUMT00000256976.3		0.00	74	0	-	NM_018233		56492433	+1	tier1		no_errors	ENST00000565682	ensembl	human	known	74_37	frame_shift_ins	34.52	55	29	INS	0.001:0.001	T
OGG1	4968	genome.wustl.edu	37	3	9799001	9799001	+	3'UTR	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:9799001delG	ENST00000344629.7	+	0	1548				OGG1_ENST00000449570.2_Intron|OGG1_ENST00000339511.5_3'UTR|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302003.7_Frame_Shift_Del_p.G409fs|OGG1_ENST00000383826.5_Intron			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase						acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					AAGATGGGGTGGGGGATATTG	0.478								Base excision repair (BER), DNA glycosylases																																									0													48.0	47.0	48.0					3																	9799001		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.*167G>-	3.37:g.9799001delG			A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Frame_Shift_Del	DEL	pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg	p.G409fs	ENST00000344629.7	37	c.1222	CCDS2581.1	3																																																																																			OGG1	-	NULL	ENSG00000114026		0.478	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OGG1	HGNC	protein_coding	OTTHUMT00000214223.2		0.00	12	0	G	NM_016821		9799001	+1	tier1		no_errors	ENST00000302003	ensembl	human	known	74_37	frame_shift_del	18.75	13	3	DEL	0.000	-
OGN	4969	genome.wustl.edu	37	9	95155368	95155368	+	Splice_Site	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:95155368G>A	ENST00000262551.4	-	4	847	c.427C>T	c.(427-429)Cct>Tct	p.P143S	OGN_ENST00000468743.1_5'UTR|OGN_ENST00000375561.5_Splice_Site_p.P143S|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	143					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|negative regulation of smooth muscle cell proliferation (GO:0048662)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						CTTAACTTACGTATGTCTGCA	0.338																																																	0													74.0	66.0	69.0					9																	95155368		2203	4300	6503	SO:0001630	splice_region_variant	0			AI424992	CCDS6695.1	9q22	2008-02-05	2007-02-16		ENSG00000106809	ENSG00000106809		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8126	protein-coding gene	gene with protein product	"""mimecan proteoglycan"""	602383	"""osteoglycin (osteoinductive factor)"""			2372374	Standard	NM_033014		Approved	mimecan, OIF, SLRR3A	uc004asa.3	P20774	OTTHUMG00000020224	ENST00000262551.4:c.427+1C>T	9.37:g.95155368G>A			Q6FIB0|Q9UF90|Q9UNK5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P143S	ENST00000262551.4	37	c.427	CCDS6695.1	9	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128308	0.56721	.	.	ENSG00000106809	ENST00000262551;ENST00000375561;ENST00000447356	T;T;T	0.56611	0.45;0.45;0.45	4.85	4.85	0.62838	.	0.172091	0.51477	D	0.000081	T	0.43500	0.1250	N	0.17764	0.52	0.80722	D	1	P;D	0.56521	0.939;0.976	P;P	0.47786	0.557;0.507	T	0.27905	-1.0060	9	.	.	.	.	14.2237	0.65845	0.0:0.0:0.8411:0.1589	.	201;143	B4DI63;P20774	.;MIME_HUMAN	S	143;143;201	ENSP00000262551:P143S;ENSP00000364711:P143S;ENSP00000396709:P201S	.	P	-	1	0	OGN	94195189	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.446000	0.52928	2.431000	0.82371	0.557000	0.71058	CCT	OGN	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000106809		0.338	OGN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OGN	HGNC	protein_coding	OTTHUMT00000053087.1	-	0.00	82	0	G	NM_024416	Missense_Mutation	95155368	-1	tier1	-	no_errors	ENST00000262551	ensembl	human	known	74_37	missense	36.47	54	31	SNP	0.999	A
OLFML2B	25903	genome.wustl.edu	37	1	161953561	161953561	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:161953561G>T	ENST00000294794.3	-	8	2580	c.2157C>A	c.(2155-2157)tcC>tcA	p.S719S	OLFML2B_ENST00000367940.2_Silent_p.S720S|OLFML2B_ENST00000367938.1_Silent_p.S202S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	719	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGGTCGTATAGGAATACTCAT	0.527																																																	0													367.0	333.0	345.0					1																	161953561		2203	4300	6503	SO:0001819	synonymous_variant	0			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.2157C>A	1.37:g.161953561G>T			B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like	p.S719	ENST00000294794.3	37	c.2157	CCDS1236.1	1																																																																																			OLFML2B	-	pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like	ENSG00000162745		0.527	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	HGNC	protein_coding	OTTHUMT00000060552.2	-	0.00	130	0	G	NM_015441		161953561	-1	tier1	-	no_errors	ENST00000294794	ensembl	human	known	74_37	silent	30.07	100	43	SNP	1.000	T
ONECUT1	3175	genome.wustl.edu	37	15	53081749	53081749	+	Silent	SNP	C	C	T	rs140232143		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:53081749C>T	ENST00000305901.5	-	1	460	c.333G>A	c.(331-333)ccG>ccA	p.P111P	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	111					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TGGGAGGCAGCGGCTGCAGAG	0.667																																																	0													71.0	61.0	65.0					15																	53081749		2194	4293	6487	SO:0001819	synonymous_variant	0			U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.333G>A	15.37:g.53081749C>T			B2RTV4|Q99744|Q9UMR6	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.P111	ENST00000305901.5	37	c.333	CCDS10150.1	15																																																																																			ONECUT1	-	NULL	ENSG00000169856		0.667	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT1	HGNC	protein_coding	OTTHUMT00000254849.2	-	0.00	85	0	C			53081749	-1	tier1	-	no_errors	ENST00000305901	ensembl	human	known	74_37	silent	39.29	34	22	SNP	1.000	T
ONECUT2	9480	genome.wustl.edu	37	18	55103827	55103827	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:55103827C>T	ENST00000491143.2	+	1	911	c.879C>T	c.(877-879)aaC>aaT	p.N293N	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	293					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CGCACCTGAACGGCCTGCACC	0.701																																																	0													32.0	39.0	37.0					18																	55103827		2116	4217	6333	SO:0001819	synonymous_variant	0			Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.879C>T	18.37:g.55103827C>T				Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT	p.N293	ENST00000491143.2	37	c.879	CCDS42440.1	18																																																																																			ONECUT2	-	NULL	ENSG00000119547		0.701	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT2	HGNC	protein_coding	OTTHUMT00000357264.3	-	0.00	34	0	C			55103827	+1	tier1	-	no_errors	ENST00000491143	ensembl	human	known	74_37	silent	30.77	18	8	SNP	1.000	T
OPLAH	26873	genome.wustl.edu	37	8	145109541	145109542	+	Frame_Shift_Ins	INS	-	-	G	rs539582965	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:145109541_145109542insG	ENST00000426825.1	-	19	2689_2690	c.2608_2609insC	c.(2608-2610)cacfs	p.H870fs	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	870					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATGGTGGAGTGGGGGGGCATG	0.639																																																	0																																										SO:0001589	frameshift_variant	0			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2609dupC	8.37:g.145109548_145109548dupG	ENSP00000475943:p.His870fs		A5PKY8|Q75W65|Q9Y4Q0	Frame_Shift_Ins	INS	pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N	p.H870fs	ENST00000426825.1	37	c.2609_2608		8																																																																																			OPLAH	-	pfam_Hydantoinase_B	ENSG00000178814		0.639	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	OPLAH	HGNC	protein_coding			0.00	56	0	-	NM_017570		145109542	-1	tier1		no_errors	ENST00000426825	ensembl	human	known	74_37	frame_shift_ins	12.50	49	7	INS	1.000:1.000	G
OPN4	94233	genome.wustl.edu	37	10	88421075	88421075	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:88421075C>T	ENST00000241891.5	+	7	1170	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	OPN4_ENST00000372071.2_Missense_Mutation_p.P346S	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	335					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GAGCTCGGTGCCAGCCGTCAT	0.577																																																	0													241.0	168.0	193.0					10																	88421075		2203	4300	6503	SO:0001583	missense	0			AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.1003C>T	10.37:g.88421075C>T	ENSP00000241891:p.Pro335Ser		B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin	p.P346S	ENST00000241891.5	37	c.1036	CCDS7376.1	10	.	.	.	.	.	.	.	.	.	.	C	29.1	4.975657	0.92919	.	.	ENSG00000122375	ENST00000372071;ENST00000241891;ENST00000443292	T;T;T	0.71103	-0.54;-0.54;-0.54	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.064890	0.64402	D	0.000008	D	0.86908	0.6046	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.89118	0.3501	10	0.59425	D	0.04	.	18.3567	0.90359	0.0:1.0:0.0:0.0	.	346;335;346	C9JWU6;Q9UHM6;Q9UHM6-2	.;OPN4_HUMAN;.	S	346;335;346	ENSP00000361141:P346S;ENSP00000241891:P335S;ENSP00000393132:P346S	ENSP00000241891:P335S	P	+	1	0	OPN4	88411055	1.000000	0.71417	0.985000	0.45067	0.918000	0.54935	6.016000	0.70798	2.333000	0.79357	0.561000	0.74099	CCA	OPN4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opsin	ENSG00000122375		0.577	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN4	HGNC	protein_coding	OTTHUMT00000049158.2	-	0.00	35	0	C	NM_033282		88421075	+1	tier1	-	no_errors	ENST00000372071	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	T
OPRK1	4986	genome.wustl.edu	37	8	54147421	54147421	+	Missense_Mutation	SNP	G	G	A	rs201421010		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:54147421G>A	ENST00000265572.3	-	3	805	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	OPRK1_ENST00000520287.1_Missense_Mutation_p.R170C|OPRK1_ENST00000524278.1_Missense_Mutation_p.R81C|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	170					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	AAGGGTGTGCGGAAGTCCAAA	0.507																																																	0													119.0	100.0	106.0					8																	54147421		2203	4300	6503	SO:0001583	missense	0				CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.508C>T	8.37:g.54147421G>A	ENSP00000265572:p.Arg170Cys		E5RHC9|Q499G4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.R170C	ENST00000265572.3	37	c.508	CCDS6152.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.268547	0.95429	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.39406	1.08;1.08;1.08	5.96	5.96	0.96718	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77890	0.4198	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84082	0.0385	10	0.87932	D	0	.	20.3928	0.98949	0.0:0.0:1.0:0.0	.	170	P41145	OPRK_HUMAN	C	170;81;170;156	ENSP00000265572:R170C;ENSP00000430923:R81C;ENSP00000429706:R170C	ENSP00000265572:R170C	R	-	1	0	OPRK1	54309974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.711000	0.98735	2.813000	0.96785	0.655000	0.94253	CGC	OPRK1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Opioid_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000082556		0.507	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPRK1	HGNC	protein_coding	OTTHUMT00000378048.1	-	0.00	86	0	G			54147421	-1	tier1	rs201421010	no_errors	ENST00000265572	ensembl	human	known	74_37	missense	30.23	60	26	SNP	1.000	A
OPTN	10133	genome.wustl.edu	37	10	13151192	13151192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:13151192delC	ENST00000378748.3	+	4	432	c.70delC	c.(70-72)cccfs	p.P25fs	OPTN_ENST00000378764.2_Frame_Shift_Del_p.P25fs|OPTN_ENST00000482140.1_3'UTR|OPTN_ENST00000378747.3_Frame_Shift_Del_p.P25fs|OPTN_ENST00000263036.5_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378757.2_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378752.3_Frame_Shift_Del_p.P25fs	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	25					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGGAAATGGACCCCCCCACCT	0.557																																																	0													89.0	89.0	89.0					10																	13151192		2203	4300	6503	SO:0001589	frameshift_variant	0			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.70delC	10.37:g.13151192delC	ENSP00000368022:p.Pro25fs		B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Frame_Shift_Del	DEL	pfam_NEMO_N	p.H26fs	ENST00000378748.3	37	c.70	CCDS7094.1	10																																																																																			OPTN	-	NULL	ENSG00000123240		0.557	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPTN	HGNC	protein_coding	OTTHUMT00000046834.1		0.00	25	0	C	NM_021980		13151192	+1	tier1		no_errors	ENST00000263036	ensembl	human	known	74_37	frame_shift_del	35.71	9	5	DEL	1.000	-
OR10A7	121364	genome.wustl.edu	37	12	55615174	55615174	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:55615174C>T	ENST00000326258.1	+	1	366	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CTTATGATCGCTTTGTGGCCA	0.453																																																	0													151.0	137.0	141.0					12																	55615174		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.366C>T	12.37:g.55615174C>T			Q6IFD5|Q96R19	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R122	ENST00000326258.1	37	c.366	CCDS31815.1	12																																																																																			OR10A7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000179919		0.453	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A7	HGNC	protein_coding	OTTHUMT00000406308.1	-	0.00	79	0	C			55615174	+1	tier1	-	no_errors	ENST00000326258	ensembl	human	known	74_37	silent	5.95	79	5	SNP	0.992	T
OR10AG1	282770	genome.wustl.edu	37	11	55735743	55735743	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:55735743G>T	ENST00000312345.2	-	1	247	c.197C>A	c.(196-198)aCa>aAa	p.T66K		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GATAATGATTGTTACATAACA	0.338																																																	0													66.0	73.0	71.0					11																	55735743		2200	4296	6496	SO:0001583	missense	0			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.197C>A	11.37:g.55735743G>T	ENSP00000311477:p.Thr66Lys		B2RNH4|Q6IEU3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T66K	ENST00000312345.2	37	c.197	CCDS31514.1	11	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486988	0.26686	.	.	ENSG00000174970	ENST00000312345	T	0.00397	7.57	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.424789	0.20201	N	0.097083	T	0.00666	0.0022	M	0.91872	3.25	0.09310	N	1	P	0.48503	0.911	B	0.42062	0.374	T	0.40289	-0.9571	10	0.87932	D	0	.	16.4263	0.83815	0.0:0.0:1.0:0.0	.	66	Q8NH19	O10AG_HUMAN	K	66	ENSP00000311477:T66K	ENSP00000311477:T66K	T	-	2	0	OR10AG1	55492319	0.906000	0.30813	0.007000	0.13788	0.199000	0.23934	3.099000	0.50267	2.475000	0.83589	0.477000	0.44152	ACA	OR10AG1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000174970		0.338	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10AG1	HGNC	protein_coding	OTTHUMT00000391531.1	-	0.00	38	0	G	NM_001005491		55735743	-1	tier1	-	no_errors	ENST00000312345	ensembl	human	known	74_37	missense	38.46	24	15	SNP	0.022	T
OR10X1	128367	genome.wustl.edu	37	1	158549366	158549366	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:158549366A>G	ENST00000368150.1	-	1	323	c.324T>C	c.(322-324)atT>atC	p.I108I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTGTGACTGAAATGCTTCTGT	0.483																																																	0													99.0	99.0	99.0					1																	158549366		2203	4300	6503	SO:0001819	synonymous_variant	0			BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.324T>C	1.37:g.158549366A>G			Q6IFR8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I108	ENST00000368150.1	37	c.324	CCDS30900.1	1																																																																																			OR10X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000186400		0.483	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10X1	HGNC	protein_coding	OTTHUMT00000051850.2	-	0.00	82	0	A	NM_001004477		158549366	-1	tier1	-	no_errors	ENST00000368150	ensembl	human	known	74_37	silent	5.75	82	5	SNP	0.982	G
OR10J1	26476	genome.wustl.edu	37	1	159410055	159410055	+	Silent	SNP	G	G	A	rs149860482	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:159410055G>A	ENST00000423932.3	+	1	544	c.507G>A	c.(505-507)acG>acA	p.T169T	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	169					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TAGCAATAACGCAAGTGACAT	0.502																																																	0													170.0	157.0	162.0					1																	159410055		2203	4300	6503	SO:0001819	synonymous_variant	0			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.507G>A	1.37:g.159410055G>A			Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T169	ENST00000423932.3	37	c.507	CCDS1185.1	1																																																																																			OR10J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196184		0.502	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J1	HGNC	protein_coding	OTTHUMT00000059020.1	-	0.00	90	0	G	NM_012351		159410055	+1	tier1	rs149860482	no_errors	ENST00000423932	ensembl	human	known	74_37	silent	26.32	70	25	SNP	0.004	A
OR2A7	401427	genome.wustl.edu	37	7	143956190	143956190	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:143956190delA	ENST00000493325.1	-	1	625	c.532delT	c.(532-534)tgtfs	p.C178fs	OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000498397.1_RNA|ARHGEF35_ENST00000543357.1_Intron	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					AAGATTTCACAAAAAAAGTGA	0.458																																																	0													12.0	14.0	13.0					7																	143956190		1892	4005	5897	SO:0001589	frameshift_variant	0				CCDS55177.1	7q35	2013-09-20			ENSG00000243896	ENSG00000243896		"""GPCR / Class A : Olfactory receptors"""	8234	protein-coding gene	gene with protein product							Standard	NM_001005328		Approved	HSDJ0798C17	uc011kuc.2	Q96R45	OTTHUMG00000158002	ENST00000493325.1:c.532delT	7.37:g.143956190delA	ENSP00000420502:p.Cys178fs		B2RN57|Q6IFP4	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.C178fs	ENST00000493325.1	37	c.532	CCDS55177.1	7																																																																																			OR2A7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000243896		0.458	OR2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A7	HGNC	protein_coding	OTTHUMT00000349979.1		0.00	29	0	A			143956190	-1			no_errors	ENST00000493325	ensembl	human	known	74_37	frame_shift_del	8.57	32	3	DEL	1.000	0
OR2L3	391192	genome.wustl.edu	37	1	248224623	248224623	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:248224623T>G	ENST00000359959.3	+	1	640	c.640T>G	c.(640-642)Tca>Gca	p.S214A	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CATTGCTATTTCATGTTCCTA	0.517																																																	0													140.0	154.0	150.0					1																	248224623		2203	4300	6503	SO:0001583	missense	0			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.640T>G	1.37:g.248224623T>G	ENSP00000353044:p.Ser214Ala		B9EH44	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S214A	ENST00000359959.3	37	c.640	CCDS31104.1	1	.	.	.	.	.	.	.	.	.	.	T	2.400	-0.337793	0.05278	.	.	ENSG00000198128	ENST00000359959	T	0.00051	8.81	2.05	-4.11	0.03928	GPCR, rhodopsin-like superfamily (1);	2.121380	0.03067	N	0.156656	T	0.00073	0.0002	N	0.02158	-0.66	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20207	-1.0282	10	0.25751	T	0.34	.	0.7694	0.01021	0.3681:0.2667:0.2143:0.1509	.	214	Q8NG85	OR2L3_HUMAN	A	214	ENSP00000353044:S214A	ENSP00000353044:S214A	S	+	1	0	OR2L3	246291246	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-2.750000	0.00793	-0.453000	0.07076	-0.492000	0.04666	TCA	OR2L3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000198128		0.517	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	HGNC	protein_coding	OTTHUMT00000096852.1	-	0.00	172	0	T	NM_001004687		248224623	+1	tier1	-	no_errors	ENST00000359959	ensembl	human	known	74_37	missense	13.24	190	29	SNP	0.000	G
OR2L3	391192	genome.wustl.edu	37	1	248224643	248224643	+	Silent	SNP	T	T	C	rs373221683	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:248224643T>C	ENST00000359959.3	+	1	660	c.660T>C	c.(658-660)gtT>gtC	p.V220V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATGGCCGGGTTCTCCTTGCTG	0.493													t|||	3	0.000599042	0.0	0.0	5008	,	,		21357	0.003		0.0	False		,,,				2504	0.0																0													129.0	134.0	132.0					1																	248224643		2203	4300	6503	SO:0001819	synonymous_variant	0			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.660T>C	1.37:g.248224643T>C			B9EH44	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V220	ENST00000359959.3	37	c.660	CCDS31104.1	1																																																																																			OR2L3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000198128		0.493	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	HGNC	protein_coding	OTTHUMT00000096852.1	-	0.00	166	0	T	NM_001004687		248224643	+1	tier1	-	no_errors	ENST00000359959	ensembl	human	known	74_37	silent	17.97	178	39	SNP	0.000	C
OR2T33	391195	genome.wustl.edu	37	1	248436945	248436945	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:248436945A>G	ENST00000318021.2	-	1	193	c.172T>C	c.(172-174)Tac>Cac	p.Y58H		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGGAGGAAGTACATGGGCGTG	0.522																																																	0													84.0	76.0	79.0					1																	248436945		2202	4300	6502	SO:0001583	missense	0				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.172T>C	1.37:g.248436945A>G	ENSP00000324687:p.Tyr58His		B2RNN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y58H	ENST00000318021.2	37	c.172	CCDS31109.1	1	.	.	.	.	.	.	.	.	.	.	-	13.56	2.275005	0.40194	.	.	ENSG00000177212	ENST00000318021	T	0.15487	2.42	2.7	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32273	U	0.006338	T	0.36138	0.0956	H	0.97315	3.98	0.37630	D	0.921657	B	0.31859	0.343	B	0.33620	0.167	T	0.55179	-0.8181	10	0.87932	D	0	.	10.997	0.47582	1.0:0.0:0.0:0.0	.	58	Q8NG76	O2T33_HUMAN	H	58	ENSP00000324687:Y58H	ENSP00000324687:Y58H	Y	-	1	0	OR2T33	246503568	1.000000	0.71417	0.991000	0.47740	0.922000	0.55478	5.091000	0.64505	1.178000	0.42870	0.404000	0.27445	TAC	OR2T33	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000177212		0.522	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1	-	0.00	107	0	A	NM_001004695		248436945	-1	tier1	-	no_errors	ENST00000318021	ensembl	human	known	74_37	missense	24.11	107	34	SNP	1.000	G
OR4M1	441670	genome.wustl.edu	37	14	20248642	20248642	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:20248642A>G	ENST00000315957.4	+	1	242	c.161A>G	c.(160-162)cAt>cGt	p.H54R		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTAGACCCTCATCTGACTTCT	0.413																																																	0													315.0	332.0	327.0					14																	20248642		2203	4300	6503	SO:0001583	missense	0				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.161A>G	14.37:g.20248642A>G	ENSP00000319654:p.His54Arg		B9EH18|Q6IFA3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H54R	ENST00000315957.4	37	c.161	CCDS32021.1	14	.	.	.	.	.	.	.	.	.	.	.	0.060	-1.227326	0.01518	.	.	ENSG00000176299	ENST00000315957	T	0.00784	5.7	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000183	T	0.00637	0.0021	N	0.20401	0.57	0.22521	N	0.999022	B	0.06786	0.001	B	0.08055	0.003	T	0.47959	-0.9076	10	0.09338	T	0.73	-5.7579	11.5315	0.50614	1.0:0.0:0.0:0.0	.	54	Q8NGD0	OR4M1_HUMAN	R	54	ENSP00000319654:H54R	ENSP00000319654:H54R	H	+	2	0	OR4M1	19318482	0.000000	0.05858	0.988000	0.46212	0.846000	0.48090	0.316000	0.19469	1.894000	0.54839	0.330000	0.21533	CAT	OR4M1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176299		0.413	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4M1	HGNC	protein_coding	OTTHUMT00000409770.1	-	0.00	218	0	A			20248642	+1	tier1	-	no_errors	ENST00000315957	ensembl	human	known	74_37	missense	23.59	149	46	SNP	0.570	G
OR4P4	81300	genome.wustl.edu	37	11	55406142	55406142	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:55406142delT	ENST00000314612.2	+	1	309	c.309delT	c.(307-309)catfs	p.H103fs		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F105fs*4(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTACCACCCATTTTTTTGGAG	0.438																																																	1	Deletion - Frameshift(1)	ovary(1)											110.0	94.0	100.0					11																	55406142		2178	4020	6198	SO:0001589	frameshift_variant	0			AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.309delT	11.37:g.55406142delT	ENSP00000324831:p.His103fs			Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F105fs	ENST00000314612.2	37	c.309	CCDS31504.1	11																																																																																			OR4P4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181927		0.438	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4P4	HGNC	protein_coding	OTTHUMT00000383356.1		0.00	38	0	T	NM_001004124		55406142	+1	tier1		no_errors	ENST00000314612	ensembl	human	known	74_37	frame_shift_del	70.00	9	21	DEL	0.097	-
OR51E2	81285	genome.wustl.edu	37	11	4703475	4703475	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:4703475delA	ENST00000396950.3	-	2	706	c.467delT	c.(466-468)ttcfs	p.F156fs		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	156					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGCAGTGGGAAAAAAAAGAG	0.552																																																	0													65.0	62.0	63.0					11																	4703475		2201	4298	6499	SO:0001589	frameshift_variant	0			AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.467delT	11.37:g.4703475delA	ENSP00000380153:p.Phe156fs		B2RA63|Q6IF94	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F156fs	ENST00000396950.3	37	c.467	CCDS7751.1	11																																																																																			OR51E2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000167332		0.552	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51E2	HGNC	protein_coding	OTTHUMT00000257198.1		0.00	36	0	A	NM_030774		4703475	-1	tier1		no_errors	ENST00000396950	ensembl	human	known	74_37	frame_shift_del	21.74	18	5	DEL	0.027	-
OR51A7	119687	genome.wustl.edu	37	11	4928790	4928790	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:4928790C>T	ENST00000359350.4	+	1	191	c.191C>T	c.(190-192)gCc>gTc	p.A64V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATTTCCTTGCCATGTTGGCT	0.483																																																	0													181.0	158.0	166.0					11																	4928790		2201	4298	6499	SO:0001583	missense	0			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.191C>T	11.37:g.4928790C>T	ENSP00000352305:p.Ala64Val		Q6IFH8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.A64V	ENST00000359350.4	37	c.191	CCDS31364.1	11	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796204	0.50208	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.00560	6.6	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.462746	0.18366	N	0.143405	T	0.00845	0.0028	L	0.52759	1.655	0.19945	N	0.999948	B	0.26547	0.152	B	0.36766	0.232	T	0.43829	-0.9367	10	0.87932	D	0	.	11.4195	0.49974	0.0:0.9132:0.0:0.0868	.	64	Q8NH64	O51A7_HUMAN	V	64;64;53	ENSP00000352305:A64V	ENSP00000352305:A64V	A	+	2	0	OR51A7	4885366	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-0.525000	0.06214	2.596000	0.87737	0.655000	0.94253	GCC	OR51A7	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176895		0.483	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A7	HGNC	protein_coding	OTTHUMT00000142175.1	-	0.00	40	0	C	NM_001004749		4928790	+1	tier1	-	no_errors	ENST00000359350	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.801	T
OR51G2	81282	genome.wustl.edu	37	11	4936759	4936759	+	Silent	SNP	C	C	T	rs554121981		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:4936759C>T	ENST00000322013.3	-	1	163	c.135G>A	c.(133-135)ccG>ccA	p.P45P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCAGTTGCCCGGGATGGAAA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		19986	0.001		0.0	False		,,,				2504	0.0																0													87.0	81.0	83.0					11																	4936759		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.135G>A	11.37:g.4936759C>T			Q6IFH7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P45	ENST00000322013.3	37	c.135	CCDS31365.1	11																																																																																			OR51G2	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn	ENSG00000176893		0.502	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G2	HGNC	protein_coding	OTTHUMT00000142174.1	-	0.00	32	0	C	NM_001005238		4936759	-1	tier1	-	no_errors	ENST00000322013	ensembl	human	known	74_37	silent	38.71	19	12	SNP	0.585	T
OR51G1	79324	genome.wustl.edu	37	11	4944874	4944874	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:4944874G>A	ENST00000321961.2	-	1	763	c.696C>T	c.(694-696)tcC>tcT	p.S232S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCCTGGTGGGAGGCAATGC	0.552																																																	0													133.0	103.0	113.0					11																	4944874		2201	4298	6499	SO:0001819	synonymous_variant	0			AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.696C>T	11.37:g.4944874G>A			B9EGW8|Q6IFH6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S232	ENST00000321961.2	37	c.696	CCDS31366.1	11																																																																																			OR51G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176879		0.552	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G1	HGNC	protein_coding	OTTHUMT00000142345.1	-	0.00	52	0	G	NM_001005237		4944874	-1	tier1	-	no_errors	ENST00000321961	ensembl	human	known	74_37	silent	38.98	36	23	SNP	0.566	A
OR52A1	23538	genome.wustl.edu	37	11	5173098	5173098	+	Silent	SNP	G	G	T	rs201188287		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:5173098G>T	ENST00000380367.1	-	2	919	c.502C>A	c.(502-504)Cgg>Agg	p.R168R	OR52A1_ENST00000328942.1_Silent_p.R168R			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	168					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATTGAAACCGGCACTTTATC	0.443																																																	0													135.0	133.0	134.0					11																	5173098		2201	4298	6499	SO:0001819	synonymous_variant	0			AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.502C>A	11.37:g.5173098G>T			Q6IF31	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R168	ENST00000380367.1	37	c.502	CCDS31374.1	11																																																																																			OR52A1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000182070		0.443	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR52A1	HGNC	protein_coding	OTTHUMT00000142810.2	-	0.00	30	0	G	NM_012375		5173098	-1	tier1	-	no_errors	ENST00000328942	ensembl	human	known	74_37	silent	11.54	23	3	SNP	0.001	T
OR52N5	390075	genome.wustl.edu	37	11	5799652	5799652	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:5799652delA	ENST00000317093.2	-	1	245	c.213delT	c.(211-213)tttfs	p.F71fs	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F71fs*59(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAGCATGGCCAAAAAAAAAAT	0.428																																																	1	Deletion - Frameshift(1)	ovary(1)								21,37,4048		0,0,21,1,35,1996	123.0	117.0	119.0			2.7	0.6	11		123	37,129,7678		1,0,35,6,117,3763	no	codingComplex	OR52N5	NM_001001922.2		1,0,56,7,152,5759	A1A1,A1A2,A1R,A2A2,A2R,RR		2.1163,1.4126,1.8745			5799652	58,166,11726	2125	4088	6213	SO:0001589	frameshift_variant	0			AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.213delT	11.37:g.5799652delA	ENSP00000322866:p.Phe71fs		B9EH12|Q6IFG2	Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.F71fs	ENST00000317093.2	37	c.213	CCDS31397.1	11																																																																																			OR52N5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181009		0.428	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N5	HGNC	protein_coding	OTTHUMT00000401141.1		0.00	13	0	A	NM_001001922		5799652	-1	tier1		no_errors	ENST00000317093	ensembl	human	known	74_37	frame_shift_del	81.25	3	13	DEL	0.971	-
OR5AR1	219493	genome.wustl.edu	37	11	56431959	56431959	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:56431959C>T	ENST00000302969.2	+	1	822	c.798C>T	c.(796-798)taC>taT	p.Y266Y		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CATCCAGCTACTCCCTGGACC	0.507																																																	0													110.0	98.0	102.0					11																	56431959		2201	4296	6497	SO:0001819	synonymous_variant	0			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.798C>T	11.37:g.56431959C>T			Q6IF61	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y266	ENST00000302969.2	37	c.798	CCDS31535.1	11																																																																																			OR5AR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172459		0.507	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AR1	HGNC	protein_coding	OTTHUMT00000334434.1	-	0.00	44	0	C	NM_001004730		56431959	+1	tier1	-	no_errors	ENST00000302969	ensembl	human	known	74_37	silent	36.00	32	18	SNP	1.000	T
OR5D14	219436	genome.wustl.edu	37	11	55563149	55563149	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:55563149A>G	ENST00000335605.1	+	1	118	c.118A>G	c.(118-120)Aca>Gca	p.T40A		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTATGTTATCACAGTGGTAGG	0.398																																																	0													181.0	166.0	171.0					11																	55563149		2200	4296	6496	SO:0001583	missense	0			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.118A>G	11.37:g.55563149A>G	ENSP00000334456:p.Thr40Ala		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T40A	ENST00000335605.1	37	c.118	CCDS31508.1	11	.	.	.	.	.	.	.	.	.	.	a	7.131	0.579969	0.13686	.	.	ENSG00000186113	ENST00000335605	T	0.03330	3.97	5.08	3.93	0.45458	.	0.146450	0.31601	N	0.007378	T	0.04907	0.0132	M	0.63208	1.945	0.09310	N	0.999995	P	0.39748	0.686	B	0.37239	0.244	T	0.34650	-0.9820	10	0.72032	D	0.01	-10.1101	5.6717	0.17725	0.764:0.0:0.0835:0.1524	.	40	Q8NGL3	OR5DE_HUMAN	A	40	ENSP00000334456:T40A	ENSP00000334456:T40A	T	+	1	0	OR5D14	55319725	0.989000	0.36119	0.006000	0.13384	0.006000	0.05464	6.258000	0.72487	0.756000	0.33013	0.523000	0.50628	ACA	OR5D14	-	prints_GPCR_Rhodpsn	ENSG00000186113		0.398	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	-	0.00	154	0	A	NM_001004735		55563149	+1	tier1	-	no_errors	ENST00000335605	ensembl	human	known	74_37	missense	30.67	104	46	SNP	0.309	G
OR5B12	390191	genome.wustl.edu	37	11	58207226	58207226	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:58207226G>T	ENST00000302572.2	-	1	420	c.399C>A	c.(397-399)acC>acA	p.T133T		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTGTTGTCATGGTGGTGGTGT	0.468																																																	0													143.0	135.0	138.0					11																	58207226		2201	4295	6496	SO:0001819	synonymous_variant	0			AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.399C>A	11.37:g.58207226G>T			B2RNL2|Q6IEV5	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.T133	ENST00000302572.2	37	c.399	CCDS31551.1	11																																																																																			OR5B12	-	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172362		0.468	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B12	HGNC	protein_coding	OTTHUMT00000394987.1	-	0.00	87	0	G	NM_001004733		58207226	-1	tier1	-	no_errors	ENST00000302572	ensembl	human	known	74_37	silent	33.06	81	40	SNP	0.135	T
OR6C70	390327	genome.wustl.edu	37	12	55863619	55863619	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:55863619delA	ENST00000327335.4	-	1	303	c.304delT	c.(304-306)tacfs	p.Y102fs	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						AAGAATATGTAAAAAAACAAC	0.393																																																	0													65.0	66.0	65.0					12																	55863619		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.304delT	12.37:g.55863619delA	ENSP00000329153:p.Tyr102fs			Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y102fs	ENST00000327335.4	37	c.304	CCDS31825.1	12																																																																																			OR6C70	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000184954		0.393	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C70	HGNC	protein_coding	OTTHUMT00000411820.1		0.00	24	0	A			55863619	-1	tier1		no_errors	ENST00000327335	ensembl	human	known	74_37	frame_shift_del	39.53	26	17	DEL	0.001	-
OR6C76	390326	genome.wustl.edu	37	12	55820521	55820521	+	Nonsense_Mutation	SNP	C	C	T	rs545177147		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:55820521C>T	ENST00000328314.3	+	1	484	c.484C>T	c.(484-486)Cag>Tag	p.Q162*		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATGGGCTTACAGCTGGATTT	0.443																																																	0													98.0	92.0	94.0					12																	55820521		2203	4299	6502	SO:0001587	stop_gained	0				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.484C>T	12.37:g.55820521C>T	ENSP00000328402:p.Gln162*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q162*	ENST00000328314.3	37	c.484	CCDS31823.1	12	.	.	.	.	.	.	.	.	.	.	c	13.03	2.113977	0.37339	.	.	ENSG00000185821	ENST00000328314	.	.	.	4.26	-8.52	0.00920	.	1.441540	0.04737	U	0.422082	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	8.1253	0.30995	0.2389:0.1206:0.5676:0.0729	.	.	.	.	X	162	.	ENSP00000328402:Q162X	Q	+	1	0	OR6C76	54106788	0.000000	0.05858	0.000000	0.03702	0.970000	0.65996	-2.764000	0.00784	-1.549000	0.01710	-0.410000	0.06199	CAG	OR6C76	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000185821		0.443	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	HGNC	protein_coding	OTTHUMT00000406675.1	-	0.00	100	0	C	NM_001005183		55820521	+1	tier1	-	no_errors	ENST00000328314	ensembl	human	known	74_37	nonsense	45.00	55	45	SNP	0.000	T
OR6C70	390327	genome.wustl.edu	37	12	55863764	55863764	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:55863764G>T	ENST00000327335.4	-	1	158	c.159C>A	c.(157-159)ctC>ctA	p.L53L	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TTGGAGTCTTGAGCTGGGAAT	0.383																																																	0													51.0	51.0	51.0					12																	55863764		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS31825.1	12q13.2	2013-09-23			ENSG00000184954	ENSG00000184954		"""GPCR / Class A : Olfactory receptors"""	31299	protein-coding gene	gene with protein product							Standard	NM_001005499		Approved		uc010spn.2	A6NIJ9	OTTHUMG00000171127	ENST00000327335.4:c.159C>A	12.37:g.55863764G>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L53	ENST00000327335.4	37	c.159	CCDS31825.1	12																																																																																			OR6C70	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000184954		0.383	OR6C70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C70	HGNC	protein_coding	OTTHUMT00000411820.1	-	0.00	26	0	G			55863764	-1	tier1	-	no_errors	ENST00000327335	ensembl	human	known	74_37	silent	8.89	41	4	SNP	0.963	T
OR7D2	162998	genome.wustl.edu	37	19	9296598	9296598	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:9296598G>T	ENST00000344248.2	+	1	320	c.141G>T	c.(139-141)ctG>ctT	p.L47L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	47					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TCATCATCCTGGCCATCAGCT	0.537																																																	0													105.0	97.0	99.0					19																	9296598		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.141G>T	19.37:g.9296598G>T			Q6IFJ7|Q8N133	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L47	ENST00000344248.2	37	c.141	CCDS32900.1	19																																																																																			OR7D2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000188000		0.537	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D2	HGNC	protein_coding	OTTHUMT00000449002.1	-	0.00	81	0	G			9296598	+1	tier1	-	no_errors	ENST00000344248	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.993	T
OR7C2	26658	genome.wustl.edu	37	19	15052470	15052470	+	Missense_Mutation	SNP	C	C	T	rs139042107		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:15052470C>T	ENST00000248072.3	+	1	170	c.170C>T	c.(169-171)aCc>aTc	p.T57I		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T57I(1)		large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CACCTCCACACCCCCATGTAC	0.498																																																	1	Substitution - Missense(1)	skin(1)											97.0	82.0	87.0					19																	15052470		2203	4300	6503	SO:0001583	missense	0			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.170C>T	19.37:g.15052470C>T	ENSP00000248072:p.Thr57Ile		O43881|Q6IFP9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T57I	ENST00000248072.3	37	c.170	CCDS12320.1	19	.	.	.	.	.	.	.	.	.	.	c	11.03	1.517525	0.27123	.	.	ENSG00000127529	ENST00000248072	T	0.03580	3.88	4.19	-2.2	0.06994	GPCR, rhodopsin-like superfamily (1);	0.387744	0.18657	U	0.134828	T	0.04907	0.0132	M	0.82056	2.57	0.09310	N	1	B	0.34290	0.447	B	0.31337	0.128	T	0.18745	-1.0327	10	0.72032	D	0.01	.	4.6028	0.12361	0.1432:0.5083:0.0:0.3485	.	57	O60412	OR7C2_HUMAN	I	57	ENSP00000248072:T57I	ENSP00000248072:T57I	T	+	2	0	OR7C2	14913470	0.000000	0.05858	0.019000	0.16419	0.862000	0.49288	-0.537000	0.06128	-0.345000	0.08325	0.514000	0.50259	ACC	OR7C2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000127529		0.498	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C2	HGNC	protein_coding	OTTHUMT00000466281.1	-	0.00	71	0	C			15052470	+1	tier1	rs139042107	no_errors	ENST00000248072	ensembl	human	known	74_37	missense	37.31	42	25	SNP	0.003	T
OR7E14P	10819	genome.wustl.edu	37	11	17074030	17074030	+	RNA	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:17074030C>T	ENST00000530490.1	+	0	822				AC116533.2_ENST00000583154.1_RNA					olfactory receptor, family 7, subfamily E, member 14 pseudogene																		GTTTCTGTGGCTTTCTAGTTC	0.438																																																	0																																												0			AF065856		11p15.1	2012-08-09			ENSG00000184669	ENSG00000184669		"""GPCR / Class A : Olfactory receptors"""	8385	pseudogene	pseudogene				OR7E151P		9787077	Standard	NR_045002		Approved	OR11-5	uc021qeh.1		OTTHUMG00000165955		11.37:g.17074030C>T				RNA	SNP	-	NULL	ENST00000530490.1	37	NULL		11																																																																																			OR7E14P	-	-	ENSG00000184669		0.438	OR7E14P-002	KNOWN	basic	processed_transcript	OR7E14P	HGNC	pseudogene	OTTHUMT00000387319.1	-	0.00	136	0	C			17074030	+1	tier1	-	no_errors	ENST00000530490	ensembl	human	known	74_37	rna	33.08	89	44	SNP	0.003	T
OR8G1	26494	genome.wustl.edu	37	11	124120822	124120822	+	RNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:124120822G>A	ENST00000534473.2	+	0	400				OR8G1_ENST00000341493.2_RNA			Q15617	OR8G1_HUMAN	olfactory receptor, family 8, subfamily G, member 1						detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		GCTGTACAGTGTCATCATATC	0.443																																																	0													225.0	210.0	215.0					11																	124120822		2085	4228	6313			0			AB065946	CCDS73407.1	11q24.2	2013-01-23	2004-07-27	2005-05-16	ENSG00000197849	ENSG00000197849		"""GPCR / Class A : Olfactory receptors"""	8484	protein-coding gene	gene with protein product			"""olfactory receptor, family 8, subfamily G, member 1 pseudogene"""	OR8G1P		9119360	Standard	NR_045681		Approved	TPCR25, HSTPCR25	uc031qep.1	Q15617	OTTHUMG00000165974		11.37:g.124120822G>A			Q8NG88	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V134I	ENST00000534473.2	37	c.400		11																																																																																			OR8G1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000197849		0.443	OR8G1-001	KNOWN	basic	polymorphic_pseudogene	OR8G1	HGNC	polymorphic_pseudogene	OTTHUMT00000387282.2	-	0.00	164	0	G	NM_001002905		124120822	+1	tier1	-	no_errors	ENST00000341493	ensembl	human	known	74_37	missense	44.37	79	63	SNP	0.000	A
ORAI3	93129	genome.wustl.edu	37	16	30965124	30965124	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:30965124G>T	ENST00000318663.4	+	2	1071	c.847G>T	c.(847-849)Gag>Tag	p.E283*	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_Intron	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	283					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						GCAGGAACTAGAGGAACTGAA	0.592											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													33.0	35.0	34.0					16																	30965124		2197	4299	6496	SO:0001587	stop_gained	0			BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.847G>T	16.37:g.30965124G>T	ENSP00000322249:p.Glu283*	821	Q96BI8	Nonsense_Mutation	SNP	pfam_CRAC_channel	p.E283*	ENST00000318663.4	37	c.847	CCDS10697.1	16	.	.	.	.	.	.	.	.	.	.	g	32	5.118120	0.94385	.	.	ENSG00000175938	ENST00000318663	.	.	.	5.64	5.64	0.86602	.	0.000000	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-11.7524	11.9254	0.52817	0.0808:0.0:0.9192:0.0	.	.	.	.	X	283	.	ENSP00000322249:E283X	E	+	1	0	ORAI3	30872625	0.999000	0.42202	0.994000	0.49952	0.846000	0.48090	2.905000	0.48727	2.673000	0.90976	0.645000	0.84053	GAG	ORAI3	-	pfam_CRAC_channel	ENSG00000175938		0.592	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORAI3	HGNC	protein_coding	OTTHUMT00000255545.20	-	0.00	41	0	G	NM_152288		30965124	+1	tier1	-	no_errors	ENST00000318663	ensembl	human	known	74_37	nonsense	17.39	19	4	SNP	1.000	T
OSBPL1A	114876	genome.wustl.edu	37	18	21745097	21745097	+	Frame_Shift_Del	DEL	T	T	-	rs370244500		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:21745097delT	ENST00000319481.3	-	27	2888	c.2682delA	c.(2680-2682)aaafs	p.K894fs	RP11-799B12.4_ENST00000583267.1_lincRNA|OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.K381fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.K512fs	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	894					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CCTCAAGTCGTTTTTTTTCTT	0.458																																																	0													203.0	185.0	191.0					18																	21745097		2203	4300	6503	SO:0001589	frameshift_variant	0			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2682delA	18.37:g.21745097delT	ENSP00000320291:p.Lys894fs		B7Z7D3|Q9BZF5|Q9NW87	Frame_Shift_Del	DEL	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.K894fs	ENST00000319481.3	37	c.2682	CCDS11884.1	18																																																																																			OSBPL1A	-	pfam_Oxysterol-bd	ENSG00000141447		0.458	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1		0.00	51	0	T	NM_080597		21745097	-1	tier1		no_errors	ENST00000319481	ensembl	human	known	74_37	frame_shift_del	45.00	33	27	DEL	0.958	-
OSBPL1A	114876	genome.wustl.edu	37	18	21761133	21761133	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:21761133G>T	ENST00000319481.3	-	19	1994	c.1788C>A	c.(1786-1788)ctC>ctA	p.L596L	OSBPL1A_ENST00000399443.3_Silent_p.L83L|OSBPL1A_ENST00000357041.4_Silent_p.L214L	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	596					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)	p.L596L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CAGGATCAGAGAGTGAACTGG	0.483																																																	1	Substitution - coding silent(1)	endometrium(1)											110.0	85.0	94.0					18																	21761133		2203	4300	6503	SO:0001819	synonymous_variant	0			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1788C>A	18.37:g.21761133G>T			B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt	p.L596	ENST00000319481.3	37	c.1788	CCDS11884.1	18																																																																																			OSBPL1A	-	pfam_Oxysterol-bd	ENSG00000141447		0.483	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	HGNC	protein_coding	OTTHUMT00000254902.1	-	0.00	39	0	G	NM_080597		21761133	-1	tier1	-	no_errors	ENST00000319481	ensembl	human	known	74_37	silent	14.63	35	6	SNP	0.000	T
OSBPL2	9885	genome.wustl.edu	37	20	60854257	60854258	+	Frame_Shift_Ins	INS	-	-	C	rs79735057		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:60854257_60854258insC	ENST00000313733.3	+	7	738_739	c.536_537insC	c.(535-540)caccccfs	p.HP179fs	OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.HP167fs|OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.HP87fs	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	179					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTCAGTCACCACCCCCCCATCA	0.465																																																	0									,	18,4246		0,18,2114					,	4.9	1.0			111	7,8247		0,7,4120	no	frameshift,frameshift	OSBPL2	NM_144498.1,NM_014835.2	,	0,25,6234	A1A1,A1R,RR		0.0848,0.4221,0.1997	,	,		25,12493				SO:0001589	frameshift_variant	0			AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.543dupC	20.37:g.60854264_60854264dupC	ENSP00000316649:p.His179fs		A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Frame_Shift_Ins	INS	pfam_Oxysterol-bd	p.I182fs	ENST00000313733.3	37	c.536_537	CCDS13495.1	20																																																																																			OSBPL2	-	pfam_Oxysterol-bd	ENSG00000130703		0.465	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL2	HGNC	protein_coding	OTTHUMT00000080021.1		0.00	80	0	-	NM_014835		60854258	+1	tier1		no_errors	ENST00000313733	ensembl	human	known	74_37	frame_shift_ins	34.44	59	31	INS	1.000:1.000	C
OSBPL6	114880	genome.wustl.edu	37	2	179201135	179201135	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:179201135G>A	ENST00000190611.4	+	9	1141	c.765G>A	c.(763-765)tcG>tcA	p.S255S	OSBPL6_ENST00000392505.2_Silent_p.S255S|OSBPL6_ENST00000409631.1_Silent_p.S255S|OSBPL6_ENST00000357080.4_Silent_p.S255S|OSBPL6_ENST00000409045.3_Silent_p.S255S|OSBPL6_ENST00000315022.2_Silent_p.S234S|OSBPL6_ENST00000359685.3_Silent_p.S255S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	255					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.S255S(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TACAGGACTCGGAAGAGATGG	0.507																																																	2	Substitution - coding silent(2)	lung(2)											143.0	142.0	143.0					2																	179201135		2203	4300	6503	SO:0001819	synonymous_variant	0			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.765G>A	2.37:g.179201135G>A			B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S234	ENST00000190611.4	37	c.702	CCDS2277.1	2																																																																																			OSBPL6	-	NULL	ENSG00000079156		0.507	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	HGNC	protein_coding	OTTHUMT00000334393.2	-	0.00	20	0	G	NM_032523		179201135	+1	tier1	-	no_errors	ENST00000315022	ensembl	human	known	74_37	silent	55.56	8	10	SNP	0.020	A
OSBPL7	114881	genome.wustl.edu	37	17	45885767	45885767	+	Splice_Site	SNP	T	T	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:45885767T>G	ENST00000007414.3	-	23	2612		c.e23-2		OSBPL7_ENST00000392507.3_Splice_Site	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7						cellular response to cholesterol (GO:0071397)|lipid transport (GO:0006869)|positive regulation of proteasomal protein catabolic process (GO:1901800)	autophagic vacuole (GO:0005776)|cytosol (GO:0005829)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GTCTGCCGCCTGGTGGGAGAA	0.627																																																	0													60.0	57.0	58.0					17																	45885767		2203	4300	6503	SO:0001630	splice_region_variant	0			AF392446	CCDS11515.1	17q21	2013-01-10				ENSG00000006025		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16387	protein-coding gene	gene with protein product		606735				14593528, 11735225	Standard	NM_145798		Approved	ORP7, MGC71150	uc002ilx.1	Q9BZF2		ENST00000007414.3:c.2421-2A>C	17.37:g.45885767T>G			D3DTT6|Q6PIV6	Splice_Site	SNP	-	e22-2	ENST00000007414.3	37	c.2421-2	CCDS11515.1	17	.	.	.	.	.	.	.	.	.	.	T	16.43	3.119814	0.56613	.	.	ENSG00000006025	ENST00000007414;ENST00000392507	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1595	0.59537	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	OSBPL7	43240766	1.000000	0.71417	0.997000	0.53966	0.569000	0.35902	6.261000	0.72509	2.111000	0.64477	0.454000	0.30748	.	OSBPL7	-	-	ENSG00000006025		0.627	OSBPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL7	HGNC	protein_coding	OTTHUMT00000441367.1	-	0.00	56	0	T	NM_017731	Intron	45885767	-1	tier1	-	no_errors	ENST00000007414	ensembl	human	known	74_37	splice_site	37.93	36	22	SNP	1.000	G
OSCAR	126014	genome.wustl.edu	37	19	54600285	54600285	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:54600285G>T	ENST00000284648.6	-	4	434	c.237C>A	c.(235-237)tcC>tcA	p.S79S	OSCAR_ENST00000391761.1_Silent_p.S68S|OSCAR_ENST00000351806.4_Silent_p.S68S|OSCAR_ENST00000358375.4_Silent_p.S79S|OSCAR_ENST00000359649.4_Silent_p.S83S|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000356532.3_Silent_p.S83S			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	79	Ig-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					CCAGCTCGGAGGACACATCCC	0.597																																																	0													58.0	60.0	59.0					19																	54600285		2203	4300	6503	SO:0001819	synonymous_variant	0			AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.237C>A	19.37:g.54600285G>T			B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Silent	SNP	smart_Ig_sub	p.S83	ENST00000284648.6	37	c.249		19																																																																																			OSCAR	-	smart_Ig_sub	ENSG00000170909		0.597	OSCAR-001	NOVEL	basic	protein_coding	OSCAR	HGNC	protein_coding	OTTHUMT00000139493.4		0.00	48	0	G	NM_133169		54600285	-1			no_errors	ENST00000356532	ensembl	human	known	74_37	silent	8.51	43	4	SNP	0.000	T
OTOF	9381	genome.wustl.edu	37	2	26741944	26741944	+	Silent	SNP	C	C	T	rs545159141		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:26741944C>T	ENST00000272371.2	-	4	387	c.261G>A	c.(259-261)aaG>aaA	p.K87K	OTOF_ENST00000403946.3_Silent_p.K87K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	87					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCTACCACCTTCTGCAGCA	0.567																																					GBM(102;732 1451 20652 24062 31372)												0													111.0	80.0	90.0					2																	26741944		2203	4300	6503	SO:0001819	synonymous_variant	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.261G>A	2.37:g.26741944C>T			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.K87	ENST00000272371.2	37	c.261	CCDS1725.1	2																																																																																			OTOF	-	superfamily_C2_dom,smart_C2_dom	ENSG00000115155		0.567	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3		0.00	34	0	C			26741944	-1			no_errors	ENST00000272371	ensembl	human	known	74_37	silent	9.52	19	2	SNP	1.000	T
OTOG	340990	genome.wustl.edu	37	11	17663676	17663676	+	Silent	SNP	C	C	T	rs569159135		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:17663676C>T	ENST00000399391.2	+	52	8334	c.8334C>T	c.(8332-8334)ccC>ccT	p.P2778P	OTOG_ENST00000399397.1_Silent_p.P2705P	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	2778					adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198)			breast(3)|central_nervous_system(1)|lung(1)|skin(1)	6						CCCTCCAGCCCGGGGCATCCT	0.652																																																	0																																										SO:0001819	synonymous_variant	0			AK128214	CCDS59225.1	11p14.3	2014-07-17			ENSG00000188162	ENSG00000188162			8516	protein-coding gene	gene with protein product		604487				9405633	Standard	NM_001277269		Approved	mlemp, OTGN, FLJ46346	uc031pzc.1	Q6ZRI0	OTTHUMG00000149905	ENST00000399391.2:c.8334C>T	11.37:g.17663676C>T			A8MTX6|A8MUJ0|B7WPC4	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom	p.P2778	ENST00000399391.2	37	c.8334	CCDS59225.1	11																																																																																			OTOG	-	NULL	ENSG00000188162		0.652	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	HGNC	protein_coding		-	0.00	72	0	C			17663676	+1	tier1	-	no_errors	ENST00000399391	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.690	T
OTUD5	55593	genome.wustl.edu	37	X	48814242	48814242	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:48814242C>T	ENST00000156084.4	-	1	651	c.591G>A	c.(589-591)gaG>gaA	p.E197E	OTUD5_ENST00000396743.3_Silent_p.E197E|OTUD5_ENST00000484499.1_Splice_Site|OTUD5_ENST00000428668.2_Intron|RNU6-722P_ENST00000411377.1_RNA|OTUD5_ENST00000376488.3_Silent_p.E197E	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	197					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CTCTTACCTGCTCGACAGTGG	0.632																																																	0													37.0	22.0	27.0					X																	48814242		2202	4300	6502	SO:0001819	synonymous_variant	0				CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.591G>A	X.37:g.48814242C>T			B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Splice_Site	SNP	-	NULL	ENST00000156084.4	37	c.NULL	CCDS14313.1	X																																																																																			OTUD5	-	-	ENSG00000068308		0.632	OTUD5-003	KNOWN	basic|CCDS	protein_coding	OTUD5	HGNC	protein_coding	OTTHUMT00000060799.1	-	0.00	22	0	C	NM_017602		48814242	-1	tier1	-	no_errors	ENST00000484499	ensembl	human	known	74_37	splice_site	63.16	7	12	SNP	1.000	T
OTX1	5013	genome.wustl.edu	37	2	63281286	63281286	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:63281286C>T	ENST00000282549.2	+	4	478	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	OTX1_ENST00000366671.3_Missense_Mutation_p.R68W	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	68					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CATCTTCATGCGGGAGGAGGT	0.662																																																	0													82.0	81.0	82.0					2																	63281286		2203	4300	6503	SO:0001583	missense	0				CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.202C>T	2.37:g.63281286C>T	ENSP00000282549:p.Arg68Trp		A6NHA2|B3KTJ4|Q53TG6	Missense_Mutation	SNP	pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx1_TF,prints_Otx_TF	p.R68W	ENST00000282549.2	37	c.202	CCDS1873.1	2	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791066	0.70452	.	.	ENSG00000115507	ENST00000366671;ENST00000282549	D;D	0.97505	-4.41;-4.41	5.09	4.18	0.49190	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99199	0.9722	H	0.99758	4.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98005	1.0362	10	0.87932	D	0	.	14.0454	0.64702	0.151:0.849:0.0:0.0	.	68	P32242	OTX1_HUMAN	W	68	ENSP00000355631:R68W;ENSP00000282549:R68W	ENSP00000282549:R68W	R	+	1	2	OTX1	63134790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.230000	0.42999	2.638000	0.89438	0.655000	0.94253	CGG	OTX1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000115507		0.662	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTX1	HGNC	protein_coding	OTTHUMT00000251617.1	-	0.00	61	0	C			63281286	+1	tier1	-	no_errors	ENST00000282549	ensembl	human	known	74_37	missense	47.76	35	32	SNP	1.000	T
PA2G4	5036	genome.wustl.edu	37	12	56505296	56505296	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:56505296delA	ENST00000303305.6	+	12	1521	c.1102delA	c.(1102-1104)aaafs	p.K373fs	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	373	Interaction with RNA. {ECO:0000250}.|Necessary for nucleolar localization.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AAAAACCCAGAAAAAGAAAAA	0.398																																																	0													110.0	115.0	114.0					12																	56505296		2190	4297	6487	SO:0001589	frameshift_variant	0			U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.1102delA	12.37:g.56505296delA	ENSP00000302886:p.Lys373fs		O43846|Q9UM59	Frame_Shift_Del	DEL	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1	p.K369fs	ENST00000303305.6	37	c.1102	CCDS8902.1	12																																																																																			PA2G4	-	tigrfam_Pap_1	ENSG00000170515		0.398	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PA2G4	HGNC	protein_coding	OTTHUMT00000407767.1		0.00	40	0	A	NM_006191		56505296	+1	tier1		no_errors	ENST00000303305	ensembl	human	known	74_37	frame_shift_del	37.04	17	10	DEL	1.000	-
PABPC3	5042	genome.wustl.edu	37	13	25671275	25671275	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:25671275G>A	ENST00000281589.3	+	1	976	c.939G>A	c.(937-939)gcG>gcA	p.A313A		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCCGGAAAGCGTTTTCTCCAT	0.413																																																	0													215.0	215.0	215.0					13																	25671275		2203	4300	6503	SO:0001819	synonymous_variant	0			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.939G>A	13.37:g.25671275G>A			Q8NHV0|Q9H086	Silent	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.A313	ENST00000281589.3	37	c.939	CCDS9311.1	13																																																																																			PABPC3	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234	ENSG00000151846		0.413	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	-	0.00	66	0	G	NM_030979		25671275	+1	tier1	-	no_errors	ENST00000281589	ensembl	human	known	74_37	silent	20.25	62	16	SNP	0.996	A
PABPN1L	390748	genome.wustl.edu	37	16	88933000	88933001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:88933000_88933001insG	ENST00000419291.2	-	1	25_26	c.14_15insC	c.(13-15)ccgfs	p.P5fs	PABPN1L_ENST00000378358.4_Frame_Shift_Ins_p.P5fs|PABPN1L_ENST00000411789.2_Frame_Shift_Ins_p.P5fs|PABPN1L_ENST00000427766.1_Frame_Shift_Ins_p.P5fs	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	5						cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			kidney(1)	1						GAGAGCGGCTCGGGAAGGGCCA	0.688																																																	0																																										SO:0001589	frameshift_variant	0				CCDS45547.1, CCDS45547.2, CCDS73925.1	16q24.3	2013-02-12	2009-12-17		ENSG00000205022	ENSG00000205022		"""RNA binding motif (RRM) containing"""	37237	protein-coding gene	gene with protein product	"""embryonic poly(A) binding protein 2"""					18483763	Standard	NM_001080487		Approved	ePABP2	uc010vpe.2	A6NDY0		ENST00000419291.2:c.15dupC	16.37:g.88933003_88933003dupG	ENSP00000408598:p.Pro5fs		A1L3B3|A2VDI2	Frame_Shift_Ins	INS	NULL	p.S6fs	ENST00000419291.2	37	c.15_14	CCDS45547.2	16																																																																																			PABPN1L	-	NULL	ENSG00000205022		0.688	PABPN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPN1L	HGNC	protein_coding	OTTHUMT00000407502.1		0.00	49	0	-	NM_001080487		88933001	-1	tier1		no_errors	ENST00000427766	ensembl	human	known	74_37	frame_shift_ins	45.83	13	11	INS	0.028:0.047	G
PACSIN2	11252	genome.wustl.edu	37	22	43287045	43287045	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:43287045G>T	ENST00000263246.3	-	4	562	c.361C>A	c.(361-363)Cac>Aac	p.H121N	PACSIN2_ENST00000407585.1_Missense_Mutation_p.H121N|PACSIN2_ENST00000402229.1_Missense_Mutation_p.H121N|PACSIN2_ENST00000403744.3_Missense_Mutation_p.H121N|PACSIN2_ENST00000337959.4_Missense_Mutation_p.H121N	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	121	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cell projection morphogenesis (GO:0048858)|membrane tubulation (GO:0097320)|negative regulation of endocytosis (GO:0045806)|protein localization to endosome (GO:0036010)	caveola (GO:0005901)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				ATCTGCTTGTGAAAGGCTTCC	0.552																																																	0													91.0	90.0	90.0					22																	43287045		2170	4295	6465	SO:0001583	missense	0			AF128536	CCDS43023.1, CCDS54536.1	22q13.2-q13.33	2009-05-08			ENSG00000100266	ENSG00000100266			8571	protein-coding gene	gene with protein product	"""syndapin II"""	604960				10431838, 11082044	Standard	NM_007229		Approved	SDPII	uc003bdg.4	Q9UNF0	OTTHUMG00000150701	ENST00000263246.3:c.361C>A	22.37:g.43287045G>T	ENSP00000263246:p.His121Asn		O95921|Q96HV9|Q9H0D3|Q9NPN1|Q9Y4V2	Missense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain	p.H121N	ENST00000263246.3	37	c.361	CCDS43023.1	22	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959199	0.92726	.	.	ENSG00000100266	ENST00000263246;ENST00000337959;ENST00000407585;ENST00000403744;ENST00000402229;ENST00000453643;ENST00000418133;ENST00000422336	T;T;T;T;T;T;T;T	0.53206	1.32;1.35;1.35;1.32;1.32;0.63;0.63;0.63	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.75620	0.3874	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81716	-0.0806	10	0.62326	D	0.03	1.5696	17.9579	0.89075	0.0:0.0:1.0:0.0	.	121;121	Q6FIA3;Q9UNF0	.;PACN2_HUMAN	N	121	ENSP00000263246:H121N;ENSP00000338379:H121N;ENSP00000385952:H121N;ENSP00000385372:H121N;ENSP00000385040:H121N;ENSP00000398573:H121N;ENSP00000396816:H121N;ENSP00000403435:H121N	ENSP00000263246:H121N	H	-	1	0	PACSIN2	41616989	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.548000	0.98103	2.557000	0.86248	0.542000	0.68232	CAC	PACSIN2	-	NULL	ENSG00000100266		0.552	PACSIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PACSIN2	HGNC	protein_coding	OTTHUMT00000319665.1	-	0.00	104	0	G	NM_007229		43287045	-1	tier1	-	no_errors	ENST00000263246	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
PAFAH1B2	5049	genome.wustl.edu	37	11	117031887	117031887	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:117031887T>C	ENST00000527958.1	+	4	357	c.198T>C	c.(196-198)ctT>ctC	p.L66L	PAFAH1B2_ENST00000419197.2_Silent_p.L66L|PAFAH1B2_ENST00000530272.1_Silent_p.L66L|PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000529887.2_Silent_p.L66L	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	66					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|positive regulation of macroautophagy (GO:0016239)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		TTTCCCCACTTCATGCACTGA	0.368			T	IGH@	MLCLS																																			Dom	yes		11	11q23	5049	"""platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"""		L	0													89.0	92.0	91.0					11																	117031887		2201	4296	6497	SO:0001819	synonymous_variant	0			D63390	CCDS8380.1, CCDS53713.1, CCDS53714.1, CCDS53715.1	11q23	2011-10-24	2010-02-10			ENSG00000168092			8575	protein-coding gene	gene with protein product	"""PAF-AH1b alpha 2 subunit"""	602508	"""platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)"""			9144386, 9693049	Standard	NM_002572		Approved		uc001pqe.2	P68402		ENST00000527958.1:c.198T>C	11.37:g.117031887T>C			A8DPS5|A8DPS6|A8DPS7|E9PEJ5|E9PLP3|O00687|Q29459|Q6IBR6	Silent	SNP	pfam_Lipase_GDSL	p.L66	ENST00000527958.1	37	c.198	CCDS8380.1	11																																																																																			PAFAH1B2	-	pfam_Lipase_GDSL	ENSG00000168092		0.368	PAFAH1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B2	HGNC	protein_coding	OTTHUMT00000392826.1	-	0.00	91	0	T	NM_002572		117031887	+1	tier1	-	no_errors	ENST00000527958	ensembl	human	known	74_37	silent	35.14	71	39	SNP	0.997	C
PAIP2B	400961	genome.wustl.edu	37	2	71417056	71417056	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:71417056G>T	ENST00000244221.8	-	3	400	c.234C>A	c.(232-234)gaC>gaA	p.D78E		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	78					negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)	translation repressor activity, nucleic acid binding (GO:0000900)			large_intestine(1)|lung(1)	2						CCTGAGGCAGGTCTCGTGAGG	0.483																																																	0													62.0	60.0	60.0					2																	71417056		1967	4171	6138	SO:0001583	missense	0				CCDS46322.1	2p13.3	2007-07-16			ENSG00000124374	ENSG00000124374			29200	protein-coding gene	gene with protein product		611018				16804161	Standard	NM_020459		Approved	KIAA1155	uc002shu.2	Q9ULR5	OTTHUMG00000153284	ENST00000244221.8:c.234C>A	2.37:g.71417056G>T	ENSP00000244221:p.Asp78Glu			Missense_Mutation	SNP	pfam_Ataxin-2_C	p.D78E	ENST00000244221.8	37	c.234	CCDS46322.1	2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683169	0.88542	.	.	ENSG00000124374	ENST00000244221	.	.	.	5.59	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.74412	0.3713	M	0.66939	2.045	0.58432	D	0.999997	D	0.76494	0.999	D	0.78314	0.991	T	0.72154	-0.4376	9	0.27082	T	0.32	-12.1684	12.2964	0.54849	0.0821:0.0:0.9179:0.0	.	78	Q9ULR5	PAI2B_HUMAN	E	78	.	ENSP00000244221:D78E	D	-	3	2	PAIP2B	71270564	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.543000	0.53633	1.368000	0.46115	0.467000	0.42956	GAC	PAIP2B	-	NULL	ENSG00000124374		0.483	PAIP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAIP2B	HGNC	protein_coding	OTTHUMT00000330547.2	-	0.00	52	0	G	XM_376062		71417056	-1	tier1	-	no_errors	ENST00000244221	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
PAN2	9924	genome.wustl.edu	37	12	56720180	56720180	+	Missense_Mutation	SNP	C	C	T	rs140591449		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:56720180C>T	ENST00000425394.2	-	8	1652	c.1276G>A	c.(1276-1278)Gtg>Atg	p.V426M	PAN2_ENST00000440411.3_Missense_Mutation_p.V426M|PAN2_ENST00000257931.5_Missense_Mutation_p.V426M|PAN2_ENST00000548043.1_Missense_Mutation_p.V426M	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TCTGCATCCACGGGTGGTGCT	0.537																																																	0								C	MET/VAL,MET/VAL,MET/VAL	2,4404	2.1+/-5.4	0,2,2201	44.0	36.0	39.0		1276,1276,1276	5.1	1.0	12	dbSNP_134	39	0,8598		0,0,4299	no	missense,missense,missense	PAN2	NM_001127460.2,NM_001166279.1,NM_014871.4	21,21,21	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	426/1203,426/1202,426/1199	56720180	2,13002	2203	4299	6502	SO:0001583	missense	0			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1276G>A	12.37:g.56720180C>T	ENSP00000401721:p.Val426Met			Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67	p.V426M	ENST00000425394.2	37	c.1276	CCDS44922.1	12	.	.	.	.	.	.	.	.	.	.	c	30	5.057829	0.93846	4.54E-4	0.0	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.13	5.13	0.70059	.	0.063342	0.64402	D	0.000008	T	0.47192	0.1432	M	0.69185	2.1	0.53688	D	0.999978	D;D;D	0.65815	0.995;0.995;0.995	P;P;P	0.60286	0.872;0.817;0.748	T	0.43065	-0.9414	10	0.54805	T	0.06	-16.2671	17.7666	0.88480	0.0:1.0:0.0:0.0	.	426;426;426	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	M	426	ENSP00000401721:V426M;ENSP00000388231:V426M;ENSP00000257931:V426M;ENSP00000449861:V426M	ENSP00000257931:V426M	V	-	1	0	PAN2	55006447	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.621000	0.83083	2.562000	0.86427	0.580000	0.79431	GTG	PAN2	-	NULL	ENSG00000135473		0.537	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN2	HGNC	protein_coding	OTTHUMT00000409024.1	-	0.00	97	0	C	NM_014871		56720180	-1	tier1	rs140591449	no_errors	ENST00000425394	ensembl	human	known	74_37	missense	40.30	40	27	SNP	1.000	T
PANK4	55229	genome.wustl.edu	37	1	2450662	2450662	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:2450662C>T	ENST00000378466.3	-	7	967	c.955G>A	c.(955-957)Gtg>Atg	p.V319M	PANK4_ENST00000491212.1_5'Flank|PANK4_ENST00000435556.3_Missense_Mutation_p.V280M	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	319					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCAAAGTACACGCGGTCCAGG	0.587																																																	0													78.0	69.0	72.0					1																	2450662		2203	4300	6503	SO:0001583	missense	0			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.955G>A	1.37:g.2450662C>T	ENSP00000367727:p.Val319Met		B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK	p.V319M	ENST00000378466.3	37	c.955	CCDS42.1	1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366962	0.82463	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	D;D	0.99724	-6.54;-6.54	5.17	5.17	0.71159	.	0.059204	0.64402	D	0.000003	D	0.99638	0.9867	M	0.89715	3.055	0.58432	D	0.999997	D;D	0.69078	0.993;0.997	P;P	0.62184	0.899;0.899	D	0.97852	1.0275	10	0.87932	D	0	-34.2021	11.1307	0.48345	0.0:0.9046:0.0:0.0954	.	280;319	E9PHT6;Q9NVE7	.;PANK4_HUMAN	M	319;280	ENSP00000367727:V319M;ENSP00000421433:V280M	ENSP00000367727:V319M	V	-	1	0	PANK4	2440522	0.999000	0.42202	0.975000	0.42487	0.983000	0.72400	4.238000	0.58688	2.424000	0.82194	0.467000	0.42956	GTG	PANK4	-	pfam_Type_II_PanK,pirsf_PanK_long,tigrfam_Type_II_PanK	ENSG00000157881		0.587	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK4	HGNC	protein_coding	OTTHUMT00000002082.1	-	0.00	75	0	C			2450662	-1	tier1	-	no_errors	ENST00000378466	ensembl	human	known	74_37	missense	48.33	31	29	SNP	0.994	T
PAPD5	64282	genome.wustl.edu	37	16	50248153	50248153	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:50248153delA	ENST00000561678.1	+	3	612	c.538delA	c.(538-540)aaafs	p.K180fs	PAPD5_ENST00000357464.3_Frame_Shift_Del_p.K168fs|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000436909.3_Frame_Shift_Del_p.K247fs			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	168					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TGGAAGTTTTAAAACTGGACT	0.313																																																	0													77.0	71.0	73.0					16																	50248153		1790	4068	5858	SO:0001589	frameshift_variant	0			AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.538delA	16.37:g.50248153delA	ENSP00000455837:p.Lys180fs		B4DV38|Q9NW67|Q9Y6C0	Frame_Shift_Del	DEL	pfam_PAP_assoc,pfam_Nucleotidyltransferase	p.T248fs	ENST00000561678.1	37	c.739		16																																																																																			PAPD5	-	pfam_Nucleotidyltransferase	ENSG00000121274		0.313	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	PAPD5	HGNC	protein_coding	OTTHUMT00000423150.1		0.00	48	0	A	NM_022447		50248153	+1	tier1		no_errors	ENST00000436909	ensembl	human	known	74_37	frame_shift_del	34.92	41	22	DEL	1.000	-
PAPD5	64282	genome.wustl.edu	37	16	50257096	50257096	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:50257096G>A	ENST00000561678.1	+	6	878	c.804G>A	c.(802-804)agG>agA	p.R268R	PAPD5_ENST00000357464.3_Silent_p.R299R|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000436909.3_Silent_p.R378R			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	299					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TACATCCCAGGGAAGATGCTT	0.328																																																	0													74.0	72.0	72.0					16																	50257096		1799	4066	5865	SO:0001819	synonymous_variant	0			AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.804G>A	16.37:g.50257096G>A			B4DV38|Q9NW67|Q9Y6C0	Silent	SNP	pfam_PAP_assoc,pfam_Nucleotidyltransferase	p.R378	ENST00000561678.1	37	c.1134		16																																																																																			PAPD5	-	NULL	ENSG00000121274		0.328	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	PAPD5	HGNC	protein_coding	OTTHUMT00000423150.1	-	0.00	43	0	G	NM_022447		50257096	+1	tier1	-	no_errors	ENST00000436909	ensembl	human	known	74_37	silent	40.43	27	19	SNP	1.000	A
PAPD5	64282	genome.wustl.edu	37	16	50263455	50263455	+	3'UTR	DEL	A	A	-	rs369429144		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:50263455delA	ENST00000561678.1	+	0	2057				PAPD5_ENST00000357464.3_3'UTR|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000436909.3_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5						histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		aaaaagagggaaaaaaaaGGC	0.318																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.*216A>-	16.37:g.50263455delA			B4DV38|Q9NW67|Q9Y6C0	RNA	DEL	-	NULL	ENST00000561678.1	37	NULL		16																																																																																			PAPD5	-	-	ENSG00000121274		0.318	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	PAPD5	HGNC	protein_coding	OTTHUMT00000423150.1		0.00	46	0	A	NM_022447		50263455	+1	tier1		no_errors	ENST00000573002	ensembl	human	known	74_37	rna	43.59	22	17	DEL	0.002	-
PAPD5	64282	genome.wustl.edu	37	16	50264212	50264213	+	3'UTR	DEL	AA	AA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:50264212_50264213delAA	ENST00000561678.1	+	0	2814_2815				PAPD5_ENST00000357464.3_3'UTR|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000436909.3_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5						histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		TCCTAATAGGAAAAAAAAAAAA	0.411																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.*974AA>-	16.37:g.50264222_50264223delAA			B4DV38|Q9NW67|Q9Y6C0	RNA	DEL	-	NULL	ENST00000561678.1	37	NULL		16																																																																																			PAPD5	-	-	ENSG00000121274		0.411	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	PAPD5	HGNC	protein_coding	OTTHUMT00000423150.1		0.00	13	0	AA	NM_022447		50264213	+1	tier1		no_errors	ENST00000573002	ensembl	human	known	74_37	rna	15.38	11	2	DEL	0.053:0.065	-
PAPLN	89932	genome.wustl.edu	37	14	73720568	73720568	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:73720568G>A	ENST00000554301.1	+	11	1364	c.1201G>A	c.(1201-1203)Gtg>Atg	p.V401M	PAPLN_ENST00000427855.1_Missense_Mutation_p.V401M|PAPLN_ENST00000381166.3_Missense_Mutation_p.V401M|PAPLN_ENST00000555445.1_Missense_Mutation_p.V401M|PAPLN_ENST00000340738.5_Missense_Mutation_p.V374M			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	401	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCAGGAGGCCGTGGAGGAGGC	0.697																																																	0													36.0	38.0	38.0					14																	73720568		2203	4300	6503	SO:0001583	missense	0			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1201G>A	14.37:g.73720568G>A	ENSP00000451803:p.Val401Met		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m	p.V401M	ENST00000554301.1	37	c.1201		14	.	.	.	.	.	.	.	.	.	.	G	7.645	0.681620	0.14907	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48	5.1	-0.603	0.11630	.	.	.	.	.	T	0.46171	0.1379	M	0.72894	2.215	0.09310	N	1	P;P;P	0.49358	0.827;0.857;0.923	B;B;B	0.35770	0.082;0.134;0.21	T	0.44787	-0.9305	9	0.72032	D	0.01	.	11.2046	0.48762	0.3635:0.0:0.6365:0.0	.	401;401;374	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	M	374;401;401;401;401	ENSP00000345395:V374M;ENSP00000403403:V401M;ENSP00000370558:V401M;ENSP00000451803:V401M;ENSP00000451729:V401M	ENSP00000216658:V401M	V	+	1	0	PAPLN	72790321	0.001000	0.12720	0.000000	0.03702	0.047000	0.14425	0.846000	0.27682	-0.031000	0.13781	0.462000	0.41574	GTG	PAPLN	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000100767		0.697	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	PAPLN	HGNC	protein_coding	OTTHUMT00000413182.1	-	0.00	70	0	G	NM_173462		73720568	+1	tier1	-	no_errors	ENST00000427855	ensembl	human	known	74_37	missense	41.89	43	31	SNP	0.000	A
PAPLN	89932	genome.wustl.edu	37	14	73729128	73729128	+	Silent	SNP	C	C	T	rs144000569		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:73729128C>T	ENST00000554301.1	+	18	2479	c.2316C>T	c.(2314-2316)ttC>ttT	p.F772F	PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000427855.1_Silent_p.F772F|PAPLN_ENST00000381166.3_Silent_p.F772F|PAPLN_ENST00000555445.1_Silent_p.F756F|PAPLN_ENST00000340738.5_Silent_p.F745F			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	772	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCTGGTACTTCGTTGCCTCTG	0.602																																																	0								C		0,4406		0,0,2203	59.0	59.0	59.0		2235	3.5	0.7	14	dbSNP_134	59	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PAPLN	NM_173462.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		745/1252	73729128	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2316C>T	14.37:g.73729128C>T			B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m	p.F772	ENST00000554301.1	37	c.2316		14																																																																																			PAPLN	-	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	ENSG00000100767		0.602	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	PAPLN	HGNC	protein_coding	OTTHUMT00000413182.1	-	0.00	74	0	C	NM_173462		73729128	+1	tier1	rs144000569	no_errors	ENST00000427855	ensembl	human	known	74_37	silent	39.68	38	25	SNP	0.968	T
PAPPA2	60676	genome.wustl.edu	37	1	176708821	176708821	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:176708821C>T	ENST00000367662.3	+	13	5022	c.3858C>T	c.(3856-3858)ggC>ggT	p.G1286G		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1286					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAACTGATGGCCTAGTTCCCG	0.433																																																	0													69.0	68.0	68.0					1																	176708821		1930	4156	6086	SO:0001819	synonymous_variant	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3858C>T	1.37:g.176708821C>T			A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.G1286	ENST00000367662.3	37	c.3858	CCDS41438.1	1																																																																																			PAPPA2	-	NULL	ENSG00000116183		0.433	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	-	0.00	64	0	C			176708821	+1	tier1	-	no_errors	ENST00000367662	ensembl	human	known	74_37	silent	30.26	53	23	SNP	0.516	T
PARP1	142	genome.wustl.edu	37	1	226549886	226549889	+	Intron	DEL	TTTT	TTTT	-	rs368063214		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:226549886_226549889delTTTT	ENST00000366794.5	-	22	2992				PARP1_ENST00000490921.1_Intron	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1						base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GTGGTCtttctttttttttttttt	0.471								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									0																																										SO:0001627	intron_variant	0			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2849-102AAAA>-	1.37:g.226549894_226549897delTTTT			B1ANJ4|Q8IUZ9	RNA	DEL	-	NULL	ENST00000366794.5	37	NULL	CCDS1554.1	1																																																																																			PARP1	-	-	ENSG00000143799		0.471	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP1	HGNC	protein_coding	OTTHUMT00000091519.1		0.00	34	0	TTTT	NM_001618		226549889	-1	tier1		no_errors	ENST00000491816	ensembl	human	known	74_37	rna	15.56	38	7	DEL	0.004:0.004:0.004:0.004	-
PARP12	64761	genome.wustl.edu	37	7	139741628	139741628	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:139741628G>T	ENST00000263549.3	-	6	1871	c.998C>A	c.(997-999)tCt>tAt	p.S333Y	PARP12_ENST00000470515.1_5'Flank	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	333	WWE 1. {ECO:0000255|PROSITE- ProRule:PRU00248}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GGCTGACTCAGAGCACAGGAT	0.532																																																	0													113.0	104.0	107.0					7																	139741628		2203	4300	6503	SO:0001583	missense	0			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.998C>A	7.37:g.139741628G>T	ENSP00000263549:p.Ser333Tyr		Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S333Y	ENST00000263549.3	37	c.998	CCDS5857.1	7	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284907	0.23392	.	.	ENSG00000059378	ENST00000263549	T	0.06768	3.26	4.68	1.64	0.23874	WWE domain (1);	1.608660	0.03231	N	0.178916	T	0.09468	0.0233	L	0.43923	1.385	0.09310	N	1	B	0.18461	0.028	B	0.18263	0.021	T	0.35624	-0.9781	10	0.62326	D	0.03	.	4.3803	0.11290	0.2098:0.1879:0.6022:0.0	.	333	Q9H0J9	PAR12_HUMAN	Y	333	ENSP00000263549:S333Y	ENSP00000263549:S333Y	S	-	2	0	PARP12	139388097	0.045000	0.20229	0.000000	0.03702	0.001000	0.01503	2.466000	0.45084	0.519000	0.28406	-0.251000	0.11542	TCT	PARP12	-	pfscan_WWE-dom	ENSG00000059378		0.532	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP12	HGNC	protein_coding	OTTHUMT00000348413.1	-	0.00	56	0	G	NM_022750		139741628	-1	tier1	-	no_errors	ENST00000263549	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.000	T
PARP6	56965	genome.wustl.edu	37	15	72552881	72552881	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:72552881delG	ENST00000569795.1	-	10	1381	c.694delC	c.(694-696)cagfs	p.Q232fs	PARP6_ENST00000287196.9_Frame_Shift_Del_p.Q232fs|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Frame_Shift_Del_p.Q232fs			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	232							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						AGACCTGCCTGGGGGCTGGGA	0.602																																																	0													195.0	199.0	198.0					15																	72552881		1897	4113	6010	SO:0001589	frameshift_variant	0			AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.694delC	15.37:g.72552881delG	ENSP00000456348:p.Gln232fs		Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Frame_Shift_Del	DEL	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.Q232fs	ENST00000569795.1	37	c.694	CCDS10241.2	15																																																																																			PARP6	-	NULL	ENSG00000137817		0.602	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP6	HGNC	protein_coding	OTTHUMT00000257315.2		0.00	72	0	G	NM_020214		72552881	-1	tier1		no_errors	ENST00000287196	ensembl	human	known	74_37	frame_shift_del	10.53	51	6	DEL	1.000	-
PBRM1	55193	genome.wustl.edu	37	3	52662977	52662977	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:52662977G>A	ENST00000296302.7	-	12	1377	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	PBRM1_ENST00000409057.1_Missense_Mutation_p.A459V|PBRM1_ENST00000356770.4_Missense_Mutation_p.A427V|PBRM1_ENST00000410007.1_Missense_Mutation_p.A459V|PBRM1_ENST00000394830.3_Missense_Mutation_p.A459V|PBRM1_ENST00000337303.4_Missense_Mutation_p.A459V|PBRM1_ENST00000409767.1_Missense_Mutation_p.A459V|PBRM1_ENST00000409114.3_Missense_Mutation_p.A459V			Q86U86	PB1_HUMAN	polybromo 1	459	Bromo 3. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATAGCGTTTGGCATTTTCAAA	0.338			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													105.0	96.0	99.0					3																	52662977		2203	4300	6503	SO:0001583	missense	0			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1376C>T	3.37:g.52662977G>A	ENSP00000296302:p.Ala459Val		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.A459V	ENST00000296302.7	37	c.1376		3	.	.	.	.	.	.	.	.	.	.	G	33	5.264407	0.95399	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	5.4	5.4	0.78164	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	H	0.94698	3.57	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.997;0.999;0.989;0.998;0.992;0.999;1.0;0.995;0.995	T	0.78658	-0.2118	10	0.87932	D	0	1.2813	19.1736	0.93590	0.0:0.0:1.0:0.0	.	459;459;459;459;459;459;459;427;459	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	V	427;459;459;459;459;459;459;459;459;403	ENSP00000349213:A427V;ENSP00000378307:A459V;ENSP00000296302:A459V;ENSP00000338302:A459V;ENSP00000386593:A459V;ENSP00000386529:A459V;ENSP00000386643:A459V;ENSP00000386601:A459V;ENSP00000387775:A459V;ENSP00000397662:A403V	ENSP00000296302:A459V	A	-	2	0	PBRM1	52638017	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.539000	0.85634	0.563000	0.77884	GCC	PBRM1	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000163939		0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	-	0.00	41	0	G	NM_018165		52662977	-1	tier1	-	no_errors	ENST00000296302	ensembl	human	known	74_37	missense	40.00	20	14	SNP	1.000	A
PBX1	5087	genome.wustl.edu	37	1	164529145	164529145	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:164529145G>T	ENST00000420696.2	+	1	274	c.86G>T	c.(85-87)gGg>gTg	p.G29V	PBX1_ENST00000401534.1_Missense_Mutation_p.G29V|PBX1_ENST00000540236.1_Missense_Mutation_p.G29V|PBX1_ENST00000367897.1_Missense_Mutation_p.G29V|PBX1_ENST00000485769.1_Missense_Mutation_p.G29V|PBX1_ENST00000559240.1_Missense_Mutation_p.G29V	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	29					adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TTGCAGGATGGGGCCGGAGGG	0.612			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																			Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"""L, M"""	0													10.0	10.0	10.0					1																	164529145		2069	3995	6064	SO:0001583	missense	0			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.86G>T	1.37:g.164529145G>T	ENSP00000405890:p.Gly29Val		B4DSC1|F5H4U9|Q5T488	Missense_Mutation	SNP	pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.G29V	ENST00000420696.2	37	c.86	CCDS1246.1	1	.	.	.	.	.	.	.	.	.	.	G	7.855	0.724766	0.15439	.	.	ENSG00000185630	ENST00000340699;ENST00000420696;ENST00000367897;ENST00000540236;ENST00000401534	T;D;D;D;D	0.89196	0.82;-2.47;-2.34;-2.48;-2.34	5.42	4.49	0.54785	.	0.199304	0.41938	D	0.000788	T	0.81997	0.4941	L	0.54323	1.7	0.09310	N	1.0	B;B;B	0.29646	0.253;0.134;0.164	B;B;B	0.32980	0.156;0.115;0.07	T	0.82259	-0.0546	9	0.59425	D	0.04	-9.8634	14.4312	0.67251	0.0:0.0:0.8512:0.1488	.	29;29;29	F5H4U9;P40424;Q53YC7	.;PBX1_HUMAN;.	V	29	ENSP00000341455:G29V;ENSP00000405890:G29V;ENSP00000356872:G29V;ENSP00000439943:G29V;ENSP00000384856:G29V	ENSP00000341455:G29V	G	+	2	0	PBX1	162795769	1.000000	0.71417	1.000000	0.80357	0.001000	0.01503	9.238000	0.95380	1.262000	0.44165	-0.182000	0.12963	GGG	PBX1	-	NULL	ENSG00000185630		0.612	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX1	HGNC	protein_coding	OTTHUMT00000082864.4	-	0.00	39	0	G	NM_002585		164529145	+1	tier1	-	no_errors	ENST00000420696	ensembl	human	known	74_37	missense	28.33	43	17	SNP	1.000	T
PC	5091	genome.wustl.edu	37	11	66616042	66616042	+	3'UTR	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:66616042A>G	ENST00000393958.2	-	0	3958				PC_ENST00000393960.1_3'UTR|PC_ENST00000529047.1_3'UTR|PC_ENST00000393955.2_3'UTR|PC_ENST00000528224.1_5'UTR	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase						biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGGACCTGGGACATCTTAGAT	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.*328T>C	11.37:g.66616042A>G			B4DN00|Q16705	RNA	SNP	-	NULL	ENST00000393958.2	37	NULL	CCDS8152.1	11																																																																																			PC	-	-	ENSG00000173599		0.602	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PC	HGNC	protein_coding	OTTHUMT00000393115.1	-	0.00	47	0	A	NM_001040716		66616042	-1	tier1	-	no_errors	ENST00000528224	ensembl	human	putative	74_37	rna	56.25	6	9	SNP	0.000	G
PCDH1	5097	genome.wustl.edu	37	5	141243705	141243705	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:141243705G>A	ENST00000394536.3	-	3	2330	c.2191C>T	c.(2191-2193)Cgt>Tgt	p.R731C	PCDH1_ENST00000456271.1_Missense_Mutation_p.R719C|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000287008.3_Missense_Mutation_p.R731C|PCDH1_ENST00000536585.1_Missense_Mutation_p.R709C|PCDH1_ENST00000503492.1_Intron	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	731	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R731C(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCACCAAGACGTGTCTGGGGG	0.537																																					Ovarian(132;1609 1739 4190 14731 45037)												1	Substitution - Missense(1)	endometrium(1)											85.0	80.0	82.0					5																	141243705		2203	4300	6503	SO:0001583	missense	0			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2191C>T	5.37:g.141243705G>A	ENSP00000378043:p.Arg731Cys		Q8IUP2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R731C	ENST00000394536.3	37	c.2191	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	g	14.52	2.559009	0.45590	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.54866	0.55;4.65;4.65;4.65;4.65	5.42	5.42	0.78866	Cadherin (2);Cadherin-like (1);	0.124629	0.36409	N	0.002604	T	0.67287	0.2877	M	0.70842	2.15	0.30216	N	0.797271	D;D	0.65815	0.995;0.989	P;P	0.56788	0.806;0.707	T	0.68914	-0.5283	10	0.52906	T	0.07	.	16.697	0.85338	0.0:0.0:1.0:0.0	.	731;731	Q08174;Q08174-2	PCDH1_HUMAN;.	C	731;731;719;742;709	ENSP00000287008:R731C;ENSP00000378043:R731C;ENSP00000403497:R719C;ENSP00000350122:R742C;ENSP00000438825:R709C	ENSP00000287008:R731C	R	-	1	0	PCDH1	141223889	0.331000	0.24713	0.997000	0.53966	0.994000	0.84299	2.072000	0.41510	2.548000	0.85928	0.457000	0.33378	CGT	PCDH1	-	pfam_Cadherin,superfamily_Cadherin-like	ENSG00000156453		0.537	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	-	0.00	24	0	G	NM_032420		141243705	-1	tier1	-	no_errors	ENST00000287008	ensembl	human	known	74_37	missense	69.23	4	9	SNP	0.460	A
PCDH10	57575	genome.wustl.edu	37	4	134071772	134071772	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:134071772C>T	ENST00000264360.5	+	1	1303	c.477C>T	c.(475-477)taC>taT	p.Y159Y	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	159	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGCGCGACTACGAGATCACCC	0.622																																																	0													70.0	68.0	69.0					4																	134071772		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.477C>T	4.37:g.134071772C>T			Q4W5F6|Q96SF0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y159	ENST00000264360.5	37	c.477	CCDS34063.1	4																																																																																			PCDH10	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000138650		0.622	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	-	0.00	27	0	C	NM_032961		134071772	+1	tier1	-	no_errors	ENST00000264360	ensembl	human	known	74_37	silent	44.83	16	13	SNP	1.000	T
PCDH11X	27328	genome.wustl.edu	37	X	91133118	91133118	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:91133118C>T	ENST00000373094.1	+	2	2724	c.1879C>T	c.(1879-1881)Cca>Tca	p.P627S	PCDH11X_ENST00000361655.2_Missense_Mutation_p.P627S|PCDH11X_ENST00000504220.2_Missense_Mutation_p.P627S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P627S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P627S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P627S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P627S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P627S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P627S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	627	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGTCATCCGACCAAATATTTC	0.378																																					NSCLC(38;925 1092 2571 38200 45895)												0													23.0	21.0	22.0					X																	91133118		2184	4263	6447	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1879C>T	X.37:g.91133118C>T	ENSP00000362186:p.Pro627Ser		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P627S	ENST00000373094.1	37	c.1879	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	4.504	0.093580	0.08632	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73;0.73	5.35	5.35	0.76521	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	N	0.00313	-1.665	0.49483	D	0.999796	P;B;P;P;P;P;P;P	0.50710	0.924;0.094;0.924;0.924;0.924;0.938;0.924;0.858	P;B;P;P;P;P;P;B	0.51415	0.54;0.155;0.54;0.54;0.54;0.669;0.54;0.386	T	0.46541	-0.9184	10	0.02654	T	1	.	16.9558	0.86259	0.0:1.0:0.0:0.0	.	627;627;627;627;627;627;627;627	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	S	627	ENSP00000378746:P627S;ENSP00000362186:P627S;ENSP00000362189:P627S;ENSP00000355040:P627S;ENSP00000362180:P627S;ENSP00000423762:P627S;ENSP00000355105:P627S;ENSP00000384758:P627S;ENSP00000298274:P627S	ENSP00000298274:P627S	P	+	1	0	PCDH11X	91019774	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	5.826000	0.69293	2.212000	0.71576	0.415000	0.27848	CCA	PCDH11X	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000102290		0.378	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	-	0.00	24	0	C	NM_032969		91133118	+1	tier1	-	no_errors	ENST00000373094	ensembl	human	known	74_37	missense	92.31	2	24	SNP	1.000	T
PCDH15	65217	genome.wustl.edu	37	10	55566542	55566542	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:55566542delC	ENST00000373965.2	-	36	5246	c.4852delG	c.(4852-4854)gccfs	p.A1618fs	PCDH15_ENST00000414778.1_Frame_Shift_Del_p.A1615fs	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGGCAAGGGGCAAATGTAACC	0.453										HNSCC(58;0.16)																																							0													306.0	273.0	283.0					10																	55566542		1568	3582	5150	SO:0001589	frameshift_variant	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4852delG	10.37:g.55566542delC	ENSP00000363076:p.Ala1618fs		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Frame_Shift_Del	DEL	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A1615fs	ENST00000373965.2	37	c.4843		10																																																																																			PCDH15	-	NULL	ENSG00000150275		0.453	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000291336.1		0.00	51	0	C	NM_033056		55566542	-1	tier1		no_errors	ENST00000414778	ensembl	human	known	74_37	frame_shift_del	43.18	25	19	DEL	1.000	-
PCDH15	65217	genome.wustl.edu	37	10	55568657	55568657	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:55568657G>T	ENST00000395445.1	-	36	5547	c.5153C>A	c.(5152-5154)cCt>cAt	p.P1718H	PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.P583H|PCDH15_ENST00000395446.1_Missense_Mutation_p.P914H|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.P652H	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCCCTCTTCAGGGATATCTTG	0.468										HNSCC(58;0.16)																																							0													112.0	89.0	96.0					10																	55568657		1568	3579	5147	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.5153C>A	10.37:g.55568657G>T	ENSP00000378832:p.Pro1718His		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P1718H	ENST00000395445.1	37	c.5153		10	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789300	0.31685	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.46	2.24	0.28232	.	.	.	.	.	T	0.44540	0.1298	N	0.14661	0.345	0.09310	N	1	B;B	0.24368	0.102;0.102	B;B	0.25140	0.058;0.058	T	0.38672	-0.9650	9	0.87932	D	0	.	2.0562	0.03582	0.1745:0.1556:0.5094:0.1605	.	1716;1718	C6ZEF5;A2A3E2	.;.	H	1718;914;583;652	ENSP00000378832:P1718H;ENSP00000378833:P914H;ENSP00000378829:P583H;ENSP00000378827:P652H	ENSP00000378827:P652H	P	-	2	0	PCDH15	55238663	0.004000	0.15560	0.026000	0.17262	0.039000	0.13416	1.251000	0.32862	1.309000	0.44985	0.655000	0.94253	CCT	PCDH15	-	NULL	ENSG00000150275		0.468	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000291335.1	-	0.00	85	0	G	NM_033056		55568657	-1	tier1	-	no_errors	ENST00000395445	ensembl	human	novel	74_37	missense	5.62	84	5	SNP	0.000	T
PCDH15	65217	genome.wustl.edu	37	10	55719505	55719505	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:55719505G>A	ENST00000320301.6	-	23	3503	c.3109C>T	c.(3109-3111)Cag>Tag	p.Q1037*	PCDH15_ENST00000437009.1_Nonsense_Mutation_p.Q966*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.Q1037*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.Q1042*|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.Q1044*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.Q1015*|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.Q1044*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.Q1037*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.Q1000*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.Q1037*|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.Q648*|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1037	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TATTCCTCCTGTGTGAAGCGT	0.413										HNSCC(58;0.16)																																							0													72.0	65.0	67.0					10																	55719505		2203	4300	6503	SO:0001587	stop_gained	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3109C>T	10.37:g.55719505G>A	ENSP00000322604:p.Gln1037*		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q1037*	ENST00000320301.6	37	c.3109	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	G	45	11.851792	0.99610	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.1451	0.89652	0.0:0.0:1.0:0.0	.	.	.	.	X	1044;1042;1037;1037;648;1044;1000;1037;1015;1037;1037;1042;966	.	ENSP00000322604:Q1037X	Q	-	1	0	PCDH15	55389511	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.106000	0.71511	2.582000	0.87167	0.585000	0.79938	CAG	PCDH15	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000150275		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0.00	34	0	G	NM_033056		55719505	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	nonsense	45.28	29	24	SNP	1.000	A
PCDH17	27253	genome.wustl.edu	37	13	58207948	58207948	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:58207948C>T	ENST00000377918.3	+	1	1294	c.1268C>T	c.(1267-1269)aCg>aTg	p.T423M		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	423	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AACTTCTACACGGTGGTGACT	0.682																																					Melanoma(72;952 1291 1619 12849 33676)												0													27.0	20.0	22.0					13																	58207948		2193	4281	6474	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1268C>T	13.37:g.58207948C>T	ENSP00000367151:p.Thr423Met		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T423M	ENST00000377918.3	37	c.1268	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	C	13.45	2.242237	0.39598	.	.	ENSG00000118946	ENST00000377918	T	0.20598	2.06	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	L	0.55834	1.745	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.06481	-1.0824	9	.	.	.	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	423;423	O14917-2;O14917	.;PCD17_HUMAN	M	423	ENSP00000367151:T423M	.	T	+	2	0	PCDH17	57105949	1.000000	0.71417	0.979000	0.43373	0.174000	0.22865	6.086000	0.71352	2.704000	0.92352	0.650000	0.86243	ACG	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000118946		0.682	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	-	0.00	52	0	C	NM_001040429		58207948	+1	tier1	-	no_errors	ENST00000377918	ensembl	human	known	74_37	missense	22.39	52	15	SNP	1.000	T
PCDH17	27253	genome.wustl.edu	37	13	58208562	58208562	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:58208562G>T	ENST00000377918.3	+	1	1908	c.1882G>T	c.(1882-1884)Gtg>Ttg	p.V628L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	628	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CTACGAGATCGTGGACGGCAA	0.662																																					Melanoma(72;952 1291 1619 12849 33676)												0													73.0	70.0	71.0					13																	58208562		2203	4300	6503	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1882G>T	13.37:g.58208562G>T	ENSP00000367151:p.Val628Leu		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V628L	ENST00000377918.3	37	c.1882	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	G	8.195	0.796966	0.16327	.	.	ENSG00000118946	ENST00000377918	T	0.43294	0.95	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.119643	0.56097	D	0.000021	T	0.30417	0.0764	N	0.11154	0.105	0.39656	D	0.970536	P;B	0.36282	0.546;0.396	B;B	0.39465	0.3;0.231	T	0.11891	-1.0569	9	.	.	.	.	19.4011	0.94630	0.0:0.0:1.0:0.0	.	628;628	O14917-2;O14917	.;PCD17_HUMAN	L	628	ENSP00000367151:V628L	.	V	+	1	0	PCDH17	57106563	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	5.149000	0.64863	2.588000	0.87417	0.561000	0.74099	GTG	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000118946		0.662	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1		0.00	22	0	G	NM_001040429		58208562	+1			no_errors	ENST00000377918	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T
PCDH19	57526	genome.wustl.edu	37	X	99662505	99662505	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:99662505delG	ENST00000373034.4	-	1	2766	c.1091delC	c.(1090-1092)ccgfs	p.P364fs	PCDH19_ENST00000420881.2_Frame_Shift_Del_p.P364fs|PCDH19_ENST00000255531.7_Frame_Shift_Del_p.P364fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	364	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P364fs*4(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CACGTAGCCCGGGGGGGCGCT	0.607																																																	1	Deletion - Frameshift(1)	large_intestine(1)											43.0	47.0	46.0					X																	99662505		2188	4265	6453	SO:0001589	frameshift_variant	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1091delC	X.37:g.99662505delG	ENSP00000362125:p.Pro364fs		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P364fs	ENST00000373034.4	37	c.1091	CCDS55462.1	X																																																																																			PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165194		0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2		0.00	14	0	G	NM_020766		99662505	-1	tier1		no_errors	ENST00000373034	ensembl	human	known	74_37	frame_shift_del	75.00	2	6	DEL	1.000	-
PCDH7	5099	genome.wustl.edu	37	4	30723074	30723074	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:30723074G>A	ENST00000361762.2	+	1	1038	c.30G>A	c.(28-30)gcG>gcA	p.A10A	PCDH7_ENST00000543491.1_Silent_p.A10A	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	10					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CGGGATGGGCGCGCGGCTGGT	0.731																																																	0													7.0	9.0	8.0					4																	30723074		2145	4174	6319	SO:0001819	synonymous_variant	0			AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.30G>A	4.37:g.30723074G>A			O60246|O60247|Q4W5C4	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A10	ENST00000361762.2	37	c.30	CCDS33971.1	4																																																																																			PCDH7	-	NULL	ENSG00000169851		0.731	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	HGNC	protein_coding	OTTHUMT00000360366.1	-	0.00	47	0	G	NM_032457, NM_002589		30723074	+1	tier1	-	no_errors	ENST00000543491	ensembl	human	known	74_37	silent	33.33	24	12	SNP	1.000	A
PCDH9	5101	genome.wustl.edu	37	13	67800478	67800478	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:67800478C>T	ENST00000377865.2	-	1	2229	c.2095G>A	c.(2095-2097)Gaa>Aaa	p.E699K	PCDH9_ENST00000544246.1_Missense_Mutation_p.E699K|PCDH9_ENST00000328454.5_Missense_Mutation_p.E699K|PCDH9_ENST00000377861.3_Missense_Mutation_p.E699K|PCDH9_ENST00000456367.1_Missense_Mutation_p.E699K			Q9HC56	PCDH9_HUMAN	protocadherin 9	699	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCAAAAACTTCTGCTACCACG	0.443																																																	0													92.0	95.0	94.0					13																	67800478		2203	4300	6503	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2095G>A	13.37:g.67800478C>T	ENSP00000367096:p.Glu699Lys		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E699K	ENST00000377865.2	37	c.2095	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647674	0.47258	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.4	5.4	0.78164	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.15305	0.0369	N	0.00112	-2.095	0.80722	D	1	B;B;B;B	0.15930	0.015;0.009;0.012;0.015	B;B;B;B	0.22601	0.04;0.017;0.01;0.017	T	0.41592	-0.9500	10	0.09338	T	0.73	.	19.3757	0.94508	0.0:1.0:0.0:0.0	.	699;699;699;699	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	K	699	ENSP00000442186:E699K;ENSP00000367096:E699K;ENSP00000401699:E699K;ENSP00000332060:E699K;ENSP00000367092:E699K	ENSP00000332060:E699K	E	-	1	0	PCDH9	66698479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.814000	0.96858	0.655000	0.94253	GAA	PCDH9	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000184226		0.443	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	-	0.00	68	0	C	NM_203487		67800478	-1	tier1	-	no_errors	ENST00000377865	ensembl	human	known	74_37	missense	26.39	53	19	SNP	1.000	T
PCDHA1	56147	genome.wustl.edu	37	5	140167669	140167669	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140167669C>T	ENST00000504120.2	+	1	1794	c.1794C>T	c.(1792-1794)gaC>gaT	p.D598D	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.D598D	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	598	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCAGTGGACGCCGACTCGG	0.672																																																	0													102.0	97.0	99.0					5																	140167669		2202	4299	6501	SO:0001819	synonymous_variant	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1794C>T	5.37:g.140167669C>T			O75288|Q9NRT7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D598	ENST00000504120.2	37	c.1794	CCDS54913.1	5																																																																																			PCDHA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204970		0.672	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	-	0.00	213	0	C	NM_018900		140167669	+1	tier1	-	no_errors	ENST00000504120	ensembl	human	known	74_37	silent	44.97	102	85	SNP	0.949	T
PCDHA11	56138	genome.wustl.edu	37	5	140250122	140250122	+	Silent	SNP	G	G	A	rs575452776		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140250122G>A	ENST00000398640.2	+	1	1434	c.1434G>A	c.(1432-1434)gcG>gcA	p.A478A	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	478	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGTCGGCGCGGGACGCGG	0.667													.|||	1	0.000199681	0.0	0.0	5008	,	,		19829	0.001		0.0	False		,,,				2504	0.0																0													92.0	97.0	95.0					5																	140250122		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1434G>A	5.37:g.140250122G>A			B2RN58|O75279	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A478	ENST00000398640.2	37	c.1434	CCDS47284.1	5																																																																																			PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000249158		0.667	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	-	0.00	242	0	G	NM_018902		140250122	+1	tier1	-	no_errors	ENST00000398640	ensembl	human	known	74_37	silent	41.52	131	93	SNP	0.034	A
PCDHA11	56138	genome.wustl.edu	37	5	140250469	140250469	+	Missense_Mutation	SNP	G	G	A	rs376620715	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140250469G>A	ENST00000398640.2	+	1	1781	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	594	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAAGGTGCGCGCAGTGGAT	0.687													.|||	4	0.000798722	0.0	0.0043	5008	,	,		17915	0.0		0.0	False		,,,				2504	0.001																0													79.0	90.0	86.0					5																	140250469		2203	4299	6502	SO:0001583	missense	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1781G>A	5.37:g.140250469G>A	ENSP00000381636:p.Arg594His		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R594H	ENST00000398640.2	37	c.1781	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	G	6.415	0.444733	0.12164	.	.	ENSG00000249158	ENST00000398640	T	0.52526	0.66	4.78	3.91	0.45181	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34279	0.0892	L	0.39326	1.205	0.09310	N	0.999993	B;B	0.32071	0.171;0.355	B;B	0.29598	0.045;0.104	T	0.25572	-1.0128	9	0.44086	T	0.13	.	4.4991	0.11855	0.2589:0.1675:0.5736:0.0	.	594;594	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	H	594	ENSP00000381636:R594H	ENSP00000381636:R594H	R	+	2	0	PCDHA11	140230653	0.000000	0.05858	0.999000	0.59377	0.104000	0.19210	0.529000	0.23019	1.009000	0.39289	0.556000	0.70494	CGC	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000249158		0.687	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	-	0.00	181	0	G	NM_018902		140250469	+1	tier1	-	no_errors	ENST00000398640	ensembl	human	known	74_37	missense	33.77	102	52	SNP	0.390	A
PCDHA3	56145	genome.wustl.edu	37	5	140180927	140180927	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140180927G>A	ENST00000522353.2	+	1	145	c.145G>A	c.(145-147)Gcg>Acg	p.A49T	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A49T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	49	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A49T(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCGCATCGCGCAGGACCT	0.652																																																	2	Substitution - Missense(2)	large_intestine(2)											51.0	61.0	58.0					5																	140180927		2203	4300	6503	SO:0001583	missense	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.145G>A	5.37:g.140180927G>A	ENSP00000429808:p.Ala49Thr		O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A49T	ENST00000522353.2	37	c.145	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	g	19.66	3.868920	0.72065	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.55413	0.52;0.52	4.48	3.61	0.41365	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.38663	U	0.001605	T	0.69708	0.3141	M	0.85542	2.76	0.36226	D	0.852295	D;D	0.76494	0.985;0.999	B;P	0.58454	0.408;0.839	T	0.80390	-0.1402	10	0.72032	D	0.01	.	12.8043	0.57605	0.081:0.0:0.919:0.0	.	49;49	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	T	49	ENSP00000429808:A49T;ENSP00000434086:A49T	ENSP00000429808:A49T	A	+	1	0	PCDHA3	140161111	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.367000	0.73099	1.029000	0.39812	0.586000	0.80456	GCG	PCDHA3	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000255408		0.652	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	-	0.00	108	0	G	NM_018906		140180927	+1	tier1	-	no_errors	ENST00000522353	ensembl	human	known	74_37	missense	39.45	66	43	SNP	1.000	A
PCDHA3	56145	genome.wustl.edu	37	5	140182156	140182156	+	Silent	SNP	C	C	T	rs377430096		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140182156C>T	ENST00000522353.2	+	1	1374	c.1374C>T	c.(1372-1374)tcC>tcT	p.S458S	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.S458S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	458	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCGCAGTCCGAGTACACGG	0.667																																																	0													91.0	92.0	92.0					5																	140182156		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1374C>T	5.37:g.140182156C>T			O75286	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S458	ENST00000522353.2	37	c.1374	CCDS54915.1	5																																																																																			PCDHA3	-	superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin	ENSG00000255408		0.667	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	-	0.00	217	0	C	NM_018906		140182156	+1	tier1	-	no_errors	ENST00000522353	ensembl	human	known	74_37	silent	47.17	112	100	SNP	0.001	T
PCDHA8	56140	genome.wustl.edu	37	5	140221181	140221181	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140221181G>A	ENST00000531613.1	+	1	275	c.275G>A	c.(274-276)cGc>cAc	p.R92H	PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R92H|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R92H(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATCGACCGCGAGGAGCTG	0.602																																																	4	Substitution - Missense(4)	lung(4)											69.0	92.0	84.0					5																	140221181		2197	4287	6484	SO:0001583	missense	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.275G>A	5.37:g.140221181G>A	ENSP00000434655:p.Arg92His		B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R92H	ENST00000531613.1	37	c.275	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955759	0.92726	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.53857	0.6;0.6	3.91	3.91	0.45181	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.36338	U	0.002646	D	0.83857	0.5345	H	0.99516	4.605	0.39192	D	0.96298	D;D	0.89917	1.0;1.0	D;P	0.68353	0.957;0.839	D	0.92531	0.6033	10	0.87932	D	0	.	16.3256	0.82978	0.0:0.0:1.0:0.0	.	92;92	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	H	92	ENSP00000434655:R92H;ENSP00000367363:R92H	ENSP00000367363:R92H	R	+	2	0	PCDHA8	140201365	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	9.733000	0.98818	1.900000	0.55004	0.552000	0.68991	CGC	PCDHA8	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204962		0.602	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	-	0.00	145	0	G	NM_018911		140221181	+1	tier1	-	no_errors	ENST00000531613	ensembl	human	known	74_37	missense	41.86	75	54	SNP	1.000	A
PCDHA8	56140	genome.wustl.edu	37	5	140223137	140223137	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140223137C>T	ENST00000531613.1	+	1	2231	c.2231C>T	c.(2230-2232)gCg>gTg	p.A744V	PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A744V|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	744					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A744E(2)|p.A744V(2)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCAGTGCGGTGGGGAGC	0.667																																																	4	Substitution - Missense(4)	endometrium(4)											53.0	52.0	52.0					5																	140223137		2196	4263	6459	SO:0001583	missense	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.2231C>T	5.37:g.140223137C>T	ENSP00000434655:p.Ala744Val		B9EGT7|O75281	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A744V	ENST00000531613.1	37	c.2231	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406007	0.25378	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.15372	2.43;2.43	3.06	0.933	0.19471	.	0.220936	0.22040	U	0.065461	T	0.19725	0.0474	M	0.86502	2.82	0.09310	N	1	P;P	0.49635	0.647;0.926	B;B	0.42030	0.158;0.373	T	0.22034	-1.0228	10	0.15952	T	0.53	.	6.2053	0.20600	0.431:0.4643:0.0:0.1046	.	744;744	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	V	744	ENSP00000434655:A744V;ENSP00000367363:A744V	ENSP00000367363:A744V	A	+	2	0	PCDHA8	140203321	0.000000	0.05858	0.872000	0.34217	0.230000	0.25150	-0.521000	0.06245	0.572000	0.29383	0.460000	0.39030	GCG	PCDHA8	-	NULL	ENSG00000204962		0.667	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	HGNC	protein_coding	OTTHUMT00000372830.2	-	0.00	75	0	C	NM_018911		140223137	+1	tier1	-	no_errors	ENST00000531613	ensembl	human	known	74_37	missense	48.72	40	38	SNP	0.021	T
PCDHA9	9752	genome.wustl.edu	37	5	140229984	140229984	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140229984G>A	ENST00000532602.1	+	1	2937	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.R635H|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	635	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACAACGCGTGCCCTGGAC	0.667																																					Melanoma(55;1800 1972 14909)												0													68.0	69.0	69.0					5																	140229984		2197	4275	6472	SO:0001583	missense	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1904G>A	5.37:g.140229984G>A	ENSP00000436042:p.Arg635His		O15053|Q2M3S5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R635H	ENST00000532602.1	37	c.1904	CCDS54920.1	5	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027370	0.54683	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.53857	0.6;0.6	4.13	3.19	0.36642	Cadherin (4);Cadherin-like (1);	0.000000	0.30820	U	0.008817	T	0.74114	0.3674	M	0.86953	2.85	0.29797	N	0.832728	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.73852	-0.3852	10	0.87932	D	0	.	13.578	0.61885	0.0:0.0:0.8446:0.1554	.	635;635	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	H	635	ENSP00000436042:R635H;ENSP00000367362:R635H	ENSP00000367362:R635H	R	+	2	0	PCDHA9	140210168	0.050000	0.20438	0.448000	0.26945	0.057000	0.15508	1.627000	0.37050	1.982000	0.57802	0.313000	0.20887	CGT	PCDHA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204961		0.667	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	-	0.00	149	0	G	NM_031857		140229984	+1	tier1	-	no_errors	ENST00000532602	ensembl	human	known	74_37	missense	41.09	76	53	SNP	0.943	A
PCDHA12	56137	genome.wustl.edu	37	5	140256774	140256774	+	Missense_Mutation	SNP	G	G	A	rs370743077		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140256774G>A	ENST00000398631.2	+	1	1717	c.1717G>A	c.(1717-1719)Gca>Aca	p.A573T	PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	573					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGGCAGCGCAGGAGGCGC	0.692																																					Pancreas(113;759 1672 13322 24104 50104)												0													174.0	170.0	172.0					5																	140256774		2203	4299	6502	SO:0001583	missense	0			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1717G>A	5.37:g.140256774G>A	ENSP00000381628:p.Ala573Thr		O75278|Q2M1N8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A573T	ENST00000398631.2	37	c.1717	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.586245	0.00872	.	.	ENSG00000251664	ENST00000398631	T	0.50001	0.76	3.87	0.763	0.18459	Cadherin-like (1);	.	.	.	.	T	0.19886	0.0478	N	0.03983	-0.305	0.09310	N	1	B;B	0.15141	0.003;0.012	B;B	0.10450	0.004;0.005	T	0.26780	-1.0093	9	0.14656	T	0.56	.	6.1704	0.20414	0.1865:0.1517:0.6617:0.0	.	573;573	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	T	573	ENSP00000381628:A573T	ENSP00000381628:A573T	A	+	1	0	PCDHA12	140236958	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.416000	0.21198	0.005000	0.14708	-0.367000	0.07326	GCA	PCDHA12	-	superfamily_Cadherin-like	ENSG00000251664		0.692	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	-	0.00	225	0	G	NM_018903		140256774	+1	tier1	-	no_errors	ENST00000398631	ensembl	human	known	74_37	missense	42.69	98	73	SNP	0.001	A
PCDHB4	56131	genome.wustl.edu	37	5	140502487	140502487	+	Frame_Shift_Del	DEL	A	A	-	rs372292910		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140502487delA	ENST00000194152.1	+	1	907	c.907delA	c.(907-909)aaafs	p.K305fs	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	305	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K305fs*12(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATACTGTTGAAAAAAAAATT	0.368																																																	1	Deletion - Frameshift(1)	lung(1)											88.0	105.0	99.0					5																	140502487		2202	4299	6501	SO:0001589	frameshift_variant	0			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.907delA	5.37:g.140502487delA	ENSP00000194152:p.Lys305fs		Q4V761	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K305fs	ENST00000194152.1	37	c.907	CCDS4246.1	5																																																																																			PCDHB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000081818		0.368	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2		0.00	22	0	A	NM_018938		140502487	+1	tier1		no_errors	ENST00000194152	ensembl	human	known	74_37	frame_shift_del	35.00	13	7	DEL	0.078	-
PCDHB4	56131	genome.wustl.edu	37	5	140503236	140503236	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140503236C>T	ENST00000194152.1	+	1	1656	c.1656C>T	c.(1654-1656)gaC>gaT	p.D552D	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	552	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGACACCAACGACA	0.697																																																	0													40.0	43.0	42.0					5																	140503236		2200	4293	6493	SO:0001819	synonymous_variant	0			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1656C>T	5.37:g.140503236C>T			Q4V761	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D552	ENST00000194152.1	37	c.1656	CCDS4246.1	5																																																																																			PCDHB4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000081818		0.697	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	HGNC	protein_coding	OTTHUMT00000251812.2	-	0.00	139	0	C	NM_018938		140503236	+1	tier1	-	no_errors	ENST00000194152	ensembl	human	known	74_37	silent	41.50	86	61	SNP	0.843	T
PCDHB8	56128	genome.wustl.edu	37	5	140559277	140559277	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140559277C>T	ENST00000239444.2	+	1	1907	c.1662C>T	c.(1660-1662)gaC>gaT	p.D554D	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	554	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGACGCCAACGACA	0.706																																																	0													27.0	47.0	40.0					5																	140559277		2200	4293	6493	SO:0001819	synonymous_variant	0			AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1662C>T	5.37:g.140559277C>T			B9EGV1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D554	ENST00000239444.2	37	c.1662	CCDS4250.1	5																																																																																			PCDHB8	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000120322		0.706	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB8	HGNC	protein_coding	OTTHUMT00000251816.2		0.00	209	0	C	NM_019120		140559277	+1			no_errors	ENST00000239444	ensembl	human	known	74_37	silent	5.88	144	9	SNP	0.988	T
PCDHB13	56123	genome.wustl.edu	37	5	140595235	140595235	+	Missense_Mutation	SNP	T	T	C	rs374432821		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140595235T>C	ENST00000341948.4	+	1	1727	c.1540T>C	c.(1540-1542)Ttc>Ctc	p.F514L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	514	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCACCTGTTCGCCCTCAG	0.687																																																	0								T	LEU/PHE	1,4405		0,1,2202	101.0	106.0	104.0		1540	3.4	0.0	5		104	0,8600		0,0,4300	no	missense	PCDHB13	NM_018933.2	22	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	514/799	140595235	1,13005	2203	4300	6503	SO:0001583	missense	0			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1540T>C	5.37:g.140595235T>C	ENSP00000345491:p.Phe514Leu		A8K9V6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F514L	ENST00000341948.4	37	c.1540	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	N	15.66	2.898109	0.52227	2.27E-4	0.0	ENSG00000187372	ENST00000341948;ENST00000430318	T	0.01665	4.7	3.42	3.42	0.39159	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.06096	0.0158	L	0.39147	1.195	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.28459	-1.0043	9	0.87932	D	0	.	11.8915	0.52633	0.0:0.0:0.0:1.0	.	514	Q9Y5F0	PCDBD_HUMAN	L	514	ENSP00000345491:F514L	ENSP00000345491:F514L	F	+	1	0	PCDHB13	140575419	0.992000	0.36948	0.020000	0.16555	0.005000	0.04900	7.874000	0.87199	1.344000	0.45657	0.369000	0.22263	TTC	PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000187372		0.687	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	-	0.00	201	0	T	NM_018933		140595235	+1	tier1	-	no_errors	ENST00000341948	ensembl	human	known	74_37	missense	5.17	165	9	SNP	0.000	C
PCDHGA1	56114	genome.wustl.edu	37	5	140712338	140712338	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140712338C>T	ENST00000517417.1	+	1	2087	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A696V	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	696					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A696V(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGCGGCCGCG	0.672																																																	2	Substitution - Missense(2)	endometrium(2)											73.0	84.0	81.0					5																	140712338		2203	4296	6499	SO:0001583	missense	0			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2087C>T	5.37:g.140712338C>T	ENSP00000431083:p.Ala696Val		Q2M273|Q9Y5D6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A696V	ENST00000517417.1	37	c.2087	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726327	0.69074	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.52295	0.67;0.68	3.87	3.87	0.44632	.	0.000000	0.49305	D	0.000160	T	0.76543	0.4002	H	0.96916	3.905	0.35183	D	0.772664	D;D	0.76494	0.981;0.999	P;D	0.65140	0.89;0.932	D	0.88648	0.3180	10	0.87932	D	0	.	14.1628	0.65457	0.0:1.0:0.0:0.0	.	696;696	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	V	696	ENSP00000431083:A696V;ENSP00000367345:A696V	ENSP00000367345:A696V	A	+	2	0	PCDHGA1	140692522	0.111000	0.22076	0.925000	0.36789	0.038000	0.13279	2.489000	0.45285	2.162000	0.67917	0.585000	0.79938	GCG	PCDHGA1	-	NULL	ENSG00000204956		0.672	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	-	0.00	129	0	C	NM_018912		140712338	+1	tier1	-	no_errors	ENST00000517417	ensembl	human	known	74_37	missense	50.00	70	70	SNP	0.999	T
PCDHGA11	56105	genome.wustl.edu	37	5	140801619	140801619	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140801619C>T	ENST00000398587.2	+	1	858	c.825C>T	c.(823-825)aaC>aaT	p.N275N	PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.N275N|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	275	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGAATCAACGGGGAAGTAA	0.463																																																	0													142.0	142.0	142.0					5																	140801619		1875	4105	5980	SO:0001819	synonymous_variant	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.825C>T	5.37:g.140801619C>T			B7ZVY8|Q9Y5D8|Q9Y5D9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N275	ENST00000398587.2	37	c.825	CCDS47294.1	5																																																																																			PCDHGA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253873		0.463	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1	-	0.00	38	0	C	NM_018914		140801619	+1	tier1	-	no_errors	ENST00000398587	ensembl	human	known	74_37	silent	25.49	38	13	SNP	0.570	T
PCDHGA11	56105	genome.wustl.edu	37	5	140801720	140801721	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140801720_140801721insT	ENST00000398587.2	+	1	959_960	c.926_927insT	c.(925-930)gattttfs	p.DF309fs	PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Frame_Shift_Ins_p.DF309fs|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	309	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTCTCTGGATTTTGAAAAAT	0.411																																																	0																																										SO:0001589	frameshift_variant	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.930dupT	5.37:g.140801724_140801724dupT	ENSP00000381589:p.Asp309fs		B7ZVY8|Q9Y5D8|Q9Y5D9	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E311fs	ENST00000398587.2	37	c.926_927	CCDS47294.1	5																																																																																			PCDHGA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253873		0.411	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1		0.00	34	0	-	NM_018914		140801721	+1	tier1		no_errors	ENST00000398587	ensembl	human	known	74_37	frame_shift_ins	22.22	35	10	INS	1.000:1.000	T
PCDHGA11	56105	genome.wustl.edu	37	5	140802149	140802149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140802149delT	ENST00000398587.2	+	1	1388	c.1355delT	c.(1354-1356)gttfs	p.V452fs	PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Frame_Shift_Del_p.V452fs|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	452	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCCTCCCGTTTTTCCTCAC	0.522																																																	0													133.0	139.0	137.0					5																	140802149		2062	4232	6294	SO:0001589	frameshift_variant	0			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1355delT	5.37:g.140802149delT	ENSP00000381589:p.Val452fs		B7ZVY8|Q9Y5D8|Q9Y5D9	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P454fs	ENST00000398587.2	37	c.1355	CCDS47294.1	5																																																																																			PCDHGA11	-	superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000253873		0.522	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA11	HGNC	protein_coding	OTTHUMT00000376974.1		0.00	58	0	T	NM_018914		140802149	+1	tier1		no_errors	ENST00000398587	ensembl	human	known	74_37	frame_shift_del	33.33	32	16	DEL	0.000	-
PCDHGA5	56110	genome.wustl.edu	37	5	140744613	140744613	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140744613C>T	ENST00000518069.1	+	1	716	c.716C>T	c.(715-717)gCg>gTg	p.A239V	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	239	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAATGCGCCCCTGTTC	0.587																																																	0													82.0	83.0	83.0					5																	140744613		2084	4212	6296	SO:0001583	missense	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.716C>T	5.37:g.140744613C>T	ENSP00000429834:p.Ala239Val		Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A239V	ENST00000518069.1	37	c.716	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	6.873	0.530482	0.13127	.	.	ENSG00000253485	ENST00000518069	T	0.03181	4.02	5.4	4.5	0.54988	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.04588	0.0125	L	0.56124	1.755	0.09310	N	1	P;P	0.43607	0.812;0.51	B;B	0.37943	0.261;0.133	T	0.40251	-0.9573	9	0.49607	T	0.09	.	6.1384	0.20247	0.157:0.6925:0.0:0.1505	.	239;239	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	V	239	ENSP00000429834:A239V	ENSP00000429834:A239V	A	+	2	0	PCDHGA5	140724797	0.045000	0.20229	0.160000	0.22671	0.023000	0.10783	1.665000	0.37449	1.341000	0.45600	0.467000	0.42956	GCG	PCDHGA5	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253485		0.587	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	-	0.00	26	0	C	NM_018918		140744613	+1	tier1	-	no_errors	ENST00000518069	ensembl	human	known	74_37	missense	36.84	12	7	SNP	0.174	T
PCDHGB3	56102	genome.wustl.edu	37	5	140750891	140750892	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140750891_140750892delAG	ENST00000576222.1	+	1	1061_1062	c.930_931delAG	c.(928-933)gaagagfs	p.EE310fs	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	310	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACTTTGAAGAGAGAGATAG	0.416																																																	0																																										SO:0001589	frameshift_variant	0			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.930_931delAG	5.37:g.140750897_140750898delAG	ENSP00000461862:p.Glu310fs		A7E229|Q9Y5C7	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D313fs	ENST00000576222.1	37	c.930_931	CCDS58980.1	5																																																																																			PCDHGB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000262209		0.416	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB3	HGNC	protein_coding	OTTHUMT00000437094.1		0.00	48	0	AG	NM_018924		140750892	+1	tier1		no_errors	ENST00000576222	ensembl	human	known	74_37	frame_shift_del	41.86	25	18	DEL	0.133:0.069	-
PCDHGA9	56107	genome.wustl.edu	37	5	140784404	140784404	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140784404G>A	ENST00000573521.1	+	1	1885	c.1885G>A	c.(1885-1887)Gct>Act	p.A629T	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	629	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGCGCACAGCTCGGGCCCT	0.607																																																	0													42.0	49.0	46.0					5																	140784404		2183	4299	6482	SO:0001583	missense	0			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.1885G>A	5.37:g.140784404G>A	ENSP00000460274:p.Ala629Thr		A2RU65|Q9Y5C9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A629T	ENST00000573521.1	37	c.1885	CCDS58981.1	5																																																																																			PCDHGA9	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000261934		0.607	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	HGNC	protein_coding	OTTHUMT00000437105.1	-	0.00	104	0	G	NM_018921		140784404	+1	tier1	-	no_errors	ENST00000573521	ensembl	human	known	74_37	missense	37.76	61	37	SNP	0.011	A
PCDHGA12	26025	genome.wustl.edu	37	5	140810542	140810542	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140810542G>A	ENST00000252085.3	+	1	358	c.216G>A	c.(214-216)acG>acA	p.T72T	PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	72	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTAGGACGCAGCTTTTCG	0.637																																																	0													59.0	72.0	68.0					5																	140810542		2202	4300	6502	SO:0001819	synonymous_variant	0			AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.216G>A	5.37:g.140810542G>A			O15100|Q6UW70|Q9Y5D7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T72	ENST00000252085.3	37	c.216	CCDS4260.1	5																																																																																			PCDHGA12	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin	ENSG00000253159		0.637	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA12	HGNC	protein_coding	OTTHUMT00000251806.2	-	0.00	34	0	G	NM_003735		140810542	+1	tier1	-	no_errors	ENST00000252085	ensembl	human	known	74_37	silent	46.15	20	18	SNP	0.000	A
PCDHGC3	5098	genome.wustl.edu	37	5	140857922	140857922	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:140857922G>A	ENST00000308177.3	+	1	2343	c.2239G>A	c.(2239-2241)Gtg>Atg	p.V747M	RN7SL68P_ENST00000488078.2_RNA|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	747					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGACGCCGTGCGGGGAGG	0.602											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													68.0	85.0	79.0					5																	140857922		2202	4300	6502	SO:0001583	missense	0			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.2239G>A	5.37:g.140857922G>A	ENSP00000312070:p.Val747Met	1659	O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V747M	ENST00000308177.3	37	c.2239	CCDS4261.1	5	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976698	0.74360	.	.	ENSG00000240184	ENST00000308177	T	0.50277	0.75	5.95	4.13	0.48395	.	.	.	.	.	T	0.49098	0.1537	M	0.64567	1.98	0.22571	N	0.998973	P;D	0.59767	0.918;0.986	B;P	0.46718	0.175;0.525	T	0.41662	-0.9496	9	0.46703	T	0.11	.	9.5263	0.39167	0.075:0.144:0.781:0.0	.	747;747	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	M	747	ENSP00000312070:V747M	ENSP00000312070:V747M	V	+	1	0	PCDHGC3	140838106	0.976000	0.34144	0.934000	0.37439	0.997000	0.91878	1.838000	0.39211	1.495000	0.48549	0.650000	0.86243	GTG	PCDHGC3	-	NULL	ENSG00000240184		0.602	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC3	HGNC	protein_coding	OTTHUMT00000251808.2	-	0.00	41	0	G	NM_002588		140857922	+1	tier1	-	no_errors	ENST00000308177	ensembl	human	known	74_37	missense	28.95	27	11	SNP	0.884	A
PCLO	27445	genome.wustl.edu	37	7	82791762	82791762	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:82791762G>A	ENST00000333891.9	-	1	484	c.147C>T	c.(145-147)agC>agT	p.S49S	PCLO_ENST00000423517.2_Silent_p.S49S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTCCTCTTCGCTCAGCTGGC	0.706																																																	0													22.0	27.0	25.0					7																	82791762		2060	4185	6245	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.147C>T	7.37:g.82791762G>A				Silent	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S49	ENST00000333891.9	37	c.147	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.706	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	145	0	G	NM_014510		82791762	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	38.68	65	41	SNP	1.000	A
PCNT	5116	genome.wustl.edu	37	21	47863768	47863768	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:47863768delC	ENST00000359568.5	+	45	9853	c.9746delC	c.(9745-9747)tccfs	p.S3249fs	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3249					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.T3252fs*84(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCAGAGAGTCCCCCCCAACC	0.582																																																	1	Insertion - Frameshift(1)	lung(1)											50.0	60.0	56.0					21																	47863768		2203	4300	6503	SO:0001589	frameshift_variant	0			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9746delC	21.37:g.47863768delC	ENSP00000352572:p.Ser3249fs		O43152|Q7Z7C9	Frame_Shift_Del	DEL	pfam_PACT_domain	p.P3251fs	ENST00000359568.5	37	c.9746	CCDS33592.1	21																																																																																			PCNT	-	NULL	ENSG00000160299		0.582	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1		0.00	98	0	C	NM_006031		47863768	+1	tier1		no_errors	ENST00000359568	ensembl	human	known	74_37	frame_shift_del	40.32	37	25	DEL	0.023	-
PCNXL2	80003	genome.wustl.edu	37	1	233134043	233134043	+	Silent	SNP	G	G	A	rs548311730		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:233134043G>A	ENST00000258229.9	-	32	5979	c.5745C>T	c.(5743-5745)ggC>ggT	p.G1915G	PCNXL2_ENST00000344698.2_Silent_p.G567G	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1915						integral component of membrane (GO:0016021)		p.G1915G(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCTGAGCACCGCCTTTTCTGG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		18796	0.001		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	large_intestine(1)											44.0	47.0	46.0					1																	233134043		2045	4204	6249	SO:0001819	synonymous_variant	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5745C>T	1.37:g.233134043G>A			O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.G1915	ENST00000258229.9	37	c.5745	CCDS44335.1	1																																																																																			PCNXL2	-	NULL	ENSG00000135749		0.602	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	-	0.00	39	0	G	NM_014801		233134043	-1	tier1	-	no_errors	ENST00000258229	ensembl	human	known	74_37	silent	54.84	14	17	SNP	0.000	A
PCNXL2	80003	genome.wustl.edu	37	1	233337948	233337949	+	Intron	DEL	TT	TT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:233337948_233337949delTT	ENST00000258229.9	-	14	3098				PCNXL2_ENST00000488780.2_Intron|PCNXL2_ENST00000430153.1_Frame_Shift_Del_p.K270fs	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TATTTTGTCCTTTTTTTTTTCA	0.361																																																	0																																										SO:0001627	intron_variant	0			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.2864-1938AA>-	1.37:g.233337956_233337957delTT			O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Frame_Shift_Del	DEL	NULL	p.K270fs	ENST00000258229.9	37	c.809_808	CCDS44335.1	1																																																																																			PCNXL2	-	NULL	ENSG00000135749		0.361	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3		0.00	79	0	TT	NM_014801		233337949	-1	tier1		no_errors	ENST00000430153	ensembl	human	known	74_37	frame_shift_del	40.00	39	26	DEL	0.000:0.005	-
PCNXL3	399909	genome.wustl.edu	37	11	65403715	65403715	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:65403715G>A	ENST00000355703.3	+	33	6069	c.5530G>A	c.(5530-5532)Ggt>Agt	p.G1844S	MIR4690_ENST00000578459.1_RNA|SIPA1_ENST00000534313.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1844	Gly-rich.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TAGTGGGGGCGGTGGCCTGAC	0.637																																																	0													38.0	45.0	43.0					11																	65403715		2069	4159	6228	SO:0001583	missense	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5530G>A	11.37:g.65403715G>A	ENSP00000347931:p.Gly1844Ser		Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.G1844S	ENST00000355703.3	37	c.5530	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346914	0.41599	.	.	ENSG00000197136	ENST00000355703	T	0.07567	3.18	4.53	-0.0933	0.13650	.	0.491974	0.18827	N	0.130099	T	0.04952	0.0133	L	0.35854	1.095	0.18873	N	0.999988	B;B	0.11235	0.004;0.001	B;B	0.06405	0.002;0.001	T	0.41502	-0.9505	10	0.16420	T	0.52	.	3.2019	0.06652	0.3373:0.0:0.4779:0.1848	.	731;1844	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	S	1844	ENSP00000347931:G1844S	ENSP00000347931:G1844S	G	+	1	0	PCNXL3	65160291	0.596000	0.26866	0.041000	0.18516	0.885000	0.51271	1.066000	0.30604	0.105000	0.17753	0.455000	0.32223	GGT	PCNXL3	-	NULL	ENSG00000197136		0.637	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	-	0.00	45	0	G	NM_032223		65403715	+1	tier1	-	no_errors	ENST00000355703	ensembl	human	known	74_37	missense	40.91	25	18	SNP	0.338	A
PCNXL4	64430	genome.wustl.edu	37	14	60591260	60591260	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:60591260G>A	ENST00000406854.1	+	9	2925	c.2371G>A	c.(2371-2373)Gca>Aca	p.A791T	PCNXL4_ENST00000317623.4_Missense_Mutation_p.A557T|PCNXL4_ENST00000406949.1_Missense_Mutation_p.A557T|PCNXL4_ENST00000404681.2_Missense_Mutation_p.A791T|PCNXL4_ENST00000535349.1_5'UTR			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	791						integral component of membrane (GO:0016021)											TAAAGGGAAAGCACCTCTAAT	0.403																																																	0													118.0	127.0	124.0					14																	60591260		2203	4299	6502	SO:0001583	missense	0			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2371G>A	14.37:g.60591260G>A	ENSP00000384801:p.Ala791Thr		A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	pfam_Pecanex	p.A791T	ENST00000406854.1	37	c.2371		14	.	.	.	.	.	.	.	.	.	.	G	1.801	-0.476996	0.04414	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.21932	1.99;1.99;1.98;1.99	5.39	-2.16	0.07080	.	1.450760	0.03470	N	0.213548	T	0.14184	0.0343	L	0.43152	1.355	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.17349	-1.0372	10	0.10377	T	0.69	.	2.1912	0.03899	0.1576:0.2061:0.4267:0.2095	.	791;557	Q63HM2;B5MC47	CN135_HUMAN;.	T	557;791;557;791	ENSP00000317396:A557T;ENSP00000384801:A791T;ENSP00000385201:A557T;ENSP00000385713:A791T	ENSP00000317396:A557T	A	+	1	0	C14orf135	59661013	0.003000	0.15002	0.000000	0.03702	0.288000	0.27193	0.827000	0.27421	-0.047000	0.13423	0.650000	0.86243	GCA	PCNXL4	-	NULL	ENSG00000126773		0.403	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PCNXL4	HGNC	protein_coding	OTTHUMT00000317847.1	-	0.00	15	0	G	NM_022495		60591260	+1	tier1	-	no_errors	ENST00000404681	ensembl	human	known	74_37	missense	50.00	12	12	SNP	0.000	A
PCSK9	255738	genome.wustl.edu	37	1	55521773	55521773	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:55521773C>T	ENST00000302118.5	+	6	1197	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	PCSK9_ENST00000543384.1_Missense_Mutation_p.R103C|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	303	Peptidase S8.				apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CGCCTGCCAGCGCCTGGCGAG	0.687																																					Pancreas(137;1454 1827 5886 22361 42375)												0													11.0	13.0	13.0					1																	55521773		2186	4288	6474	SO:0001583	missense	0			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.907C>T	1.37:g.55521773C>T	ENSP00000303208:p.Arg303Cys		A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.R303C	ENST00000302118.5	37	c.907	CCDS603.1	1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890025	0.52014	.	.	ENSG00000169174	ENST00000302118;ENST00000543384	D;D	0.88124	-2.34;-2.34	3.88	2.97	0.34412	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	1.054890	0.07484	U	0.904443	D	0.88833	0.6544	M	0.75447	2.3	0.32603	N	0.525584	D	0.76494	0.999	P	0.49140	0.601	D	0.84048	0.0368	10	0.72032	D	0.01	-2.8675	7.1823	0.25780	0.0:0.7328:0.172:0.0952	.	303	Q8NBP7	PCSK9_HUMAN	C	303;103	ENSP00000303208:R303C;ENSP00000441859:R103C	ENSP00000303208:R303C	R	+	1	0	PCSK9	55294361	0.172000	0.23043	0.229000	0.23960	0.716000	0.41182	0.487000	0.22356	0.818000	0.34468	0.563000	0.77884	CGC	PCSK9	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom	ENSG00000169174		0.687	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK9	HGNC	protein_coding	OTTHUMT00000022280.1		0.00	35	0	C	NM_174936		55521773	+1			no_errors	ENST00000302118	ensembl	human	known	74_37	missense	29.03	22	9	SNP	0.669	T
PDCD1LG2	80380	genome.wustl.edu	37	9	5557753	5557756	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GTAA	GTAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:5557753_5557756delGTAA	ENST00000397747.3	+	5	1014		c.e5+1		PDCD1LG2_ENST00000397745.2_Splice_Site	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2						immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		TCTTCAAAAGGTAAGTGAGTTTTA	0.436																																																	0																																										SO:0001630	splice_region_variant	0			AF344424	CCDS6465.1	9p24.2	2014-01-30			ENSG00000197646	ENSG00000197646		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	18731	protein-coding gene	gene with protein product	"""B7 dendritic cell molecule"""	605723				11224527	Standard	NM_025239		Approved	PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC	uc003zjg.4	Q9BQ51	OTTHUMG00000019504	ENST00000397747.3:c.766+1GTAA>-	9.37:g.5557753_5557756delGTAA			Q14CN8|Q5T7Z6|Q6JXL8|Q6JXL9	Splice_Site	DEL	-	e4+1	ENST00000397747.3	37	c.766+1_766+1	CCDS6465.1	9																																																																																			PDCD1LG2	-	-	ENSG00000197646		0.436	PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD1LG2	HGNC	protein_coding	OTTHUMT00000051634.1		0.00	66	0	GTAA	NM_025239	Intron	5557756	+1	tier1		no_errors	ENST00000397747	ensembl	human	known	74_37	splice_site_del	30.56	25	11	DEL	1.000:1.000:0.997:0.998	-
PDCL	5082	genome.wustl.edu	37	9	125582521	125582521	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:125582521C>T	ENST00000259467.4	-	4	914	c.749G>A	c.(748-750)cGt>cAt	p.R250H		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	250					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						GTCAGTAACACGAACAAAATT	0.488																																																	0													83.0	80.0	81.0					9																	125582521		2203	4300	6503	SO:0001583	missense	0			AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.749G>A	9.37:g.125582521C>T	ENSP00000259467:p.Arg250His		Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin	p.R250H	ENST00000259467.4	37	c.749	CCDS6845.1	9	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629408	0.87660	.	.	ENSG00000136940	ENST00000259467	T	0.14022	2.54	5.66	5.66	0.87406	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.26738	0.0654	L	0.55017	1.72	0.80722	D	1	D	0.60160	0.987	P	0.52758	0.708	T	0.00077	-1.2116	10	0.41790	T	0.15	-10.6745	19.1131	0.93326	0.0:1.0:0.0:0.0	.	250	Q13371	PHLP_HUMAN	H	250	ENSP00000259467:R250H	ENSP00000259467:R250H	R	-	2	0	PDCL	124622342	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	5.770000	0.68873	2.832000	0.97577	0.655000	0.94253	CGT	PDCL	-	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold	ENSG00000136940		0.488	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCL	HGNC	protein_coding	OTTHUMT00000053956.1	-	0.00	23	0	C	NM_005388		125582521	-1	tier1	-	no_errors	ENST00000259467	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	T
PDE4B	5142	genome.wustl.edu	37	1	66838073	66838073	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:66838073T>G	ENST00000329654.4	+	17	2110	c.1923T>G	c.(1921-1923)atT>atG	p.I641M	PDE4B_ENST00000371045.5_Missense_Mutation_p.I469M|PDE4B_ENST00000480109.2_Missense_Mutation_p.I408M|PDE4B_ENST00000371049.3_Missense_Mutation_p.I641M|PDE4B_ENST00000423207.2_Missense_Mutation_p.I626M	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	641					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	CTCAGGACATTCTCGATACCT	0.478																																																	0													131.0	124.0	127.0					1																	66838073		2203	4300	6503	SO:0001583	missense	0			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.1923T>G	1.37:g.66838073T>G	ENSP00000332116:p.Ile641Met		A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.I641M	ENST00000329654.4	37	c.1923	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.208380	0.58343	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000371045;ENST00000480109	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.05	1.56	0.23342	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.57021	0.2025	L	0.35593	1.075	0.80722	D	1	P;D;D;D;D	0.63880	0.825;0.975;0.98;0.993;0.993	P;D;D;D;D	0.72625	0.696;0.94;0.952;0.978;0.948	T	0.58092	-0.7697	10	0.45353	T	0.12	.	7.2586	0.26191	0.0:0.3621:0.0:0.6379	.	408;626;511;631;641	A5YW33;Q07343-3;Q13945;Q59GM8;Q07343	.;.;.;.;PDE4B_HUMAN	M	641;641;641;626;469;408	ENSP00000332116:I641M;ENSP00000342637:I641M;ENSP00000360088:I641M;ENSP00000392947:I626M;ENSP00000360084:I469M;ENSP00000432592:I408M	ENSP00000332116:I641M	I	+	3	3	PDE4B	66610661	0.996000	0.38824	1.000000	0.80357	0.831000	0.47069	0.307000	0.19296	0.490000	0.27771	0.533000	0.62120	ATT	PDE4B	-	pfam_PDEase_catalytic_dom	ENSG00000184588		0.478	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	-	0.00	50	0	T	NM_002600		66838073	+1	tier1	-	no_errors	ENST00000329654	ensembl	human	known	74_37	missense	44.44	20	16	SNP	1.000	G
PDE4C	5143	genome.wustl.edu	37	19	18330172	18330172	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:18330172C>T	ENST00000355502.3	-	12	1709	c.838G>A	c.(838-840)Gct>Act	p.A280T	PDE4C_ENST00000447275.3_Missense_Mutation_p.A174T|PDE4C_ENST00000597297.1_Missense_Mutation_p.A50T|PDE4C_ENST00000594617.3_Missense_Mutation_p.A280T|PDE4C_ENST00000594465.3_Missense_Mutation_p.A280T|PDE4C_ENST00000262805.12_Missense_Mutation_p.A248T|PDE4C_ENST00000539010.1_Missense_Mutation_p.A49T|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000598111.2_Missense_Mutation_p.A50T			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	280					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)	GCCTCCTCAGCGGTCACCTTG	0.652																																																	0													45.0	45.0	45.0					19																	18330172		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.838G>A	19.37:g.18330172C>T	ENSP00000347689:p.Ala280Thr		B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.A280T	ENST00000355502.3	37	c.838	CCDS12373.1	19	.	.	.	.	.	.	.	.	.	.	C	7.042	0.562768	0.13498	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000545961;ENST00000336173;ENST00000539010;ENST00000543547	T;T;T;T	0.70399	-0.48;-0.47;-0.48;-0.21	4.53	-0.714	0.11219	.	.	.	.	.	T	0.29288	0.0729	N	0.00483	-1.445	0.09310	N	1	B;B;B;B	0.10296	0.001;0.003;0.001;0.001	B;B;B;B	0.10450	0.0;0.005;0.002;0.001	T	0.29912	-0.9996	9	0.18276	T	0.48	.	1.9401	0.03345	0.1075:0.3293:0.2672:0.296	.	280;248;86;50	Q08493;Q08493-3;O43850;O76104	PDE4C_HUMAN;.;.;.	T	359;280;268;248;174;86;49;49;389	ENSP00000347689:A280T;ENSP00000262805:A248T;ENSP00000402091:A174T;ENSP00000439470:A49T	ENSP00000262805:A248T	A	-	1	0	PDE4C	18191172	0.000000	0.05858	0.001000	0.08648	0.108000	0.19459	-0.084000	0.11268	0.295000	0.22570	0.313000	0.20887	GCT	PDE4C	-	NULL	ENSG00000105650		0.652	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4C	HGNC	protein_coding	OTTHUMT00000466295.1	-	0.00	68	0	C			18330172	-1	tier1	-	no_errors	ENST00000355502	ensembl	human	known	74_37	missense	55.22	30	37	SNP	0.000	T
PDGFC	56034	genome.wustl.edu	37	4	157688926	157688926	+	Splice_Site	SNP	T	T	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:157688926T>G	ENST00000502773.1	-	5	1410	c.920A>C	c.(919-921)gAg>gCg	p.E307A	PDGFC_ENST00000541126.1_Splice_Site_p.E144A|PDGFC_ENST00000542208.1_Splice_Site_p.E152A|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000422544.2_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	307					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TATACCTACCTCGTGGTATTT	0.383																																																	0													85.0	82.0	83.0					4																	157688926		2203	4300	6503	SO:0001630	splice_region_variant	0			AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.921+1A>C	4.37:g.157688926T>G			B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,smart_PDGF/VEGF_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom	p.E307A	ENST00000502773.1	37	c.920	CCDS3795.1	4	.	.	.	.	.	.	.	.	.	.	T	23.0	4.365048	0.82463	.	.	ENSG00000145431	ENST00000502773;ENST00000541126;ENST00000542208	T;T;T	0.51071	2.23;0.74;0.72	5.56	5.56	0.83823	Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.70002	0.3174	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.995;0.997	T	0.74553	-0.3627	10	0.87932	D	0	-27.6737	15.7233	0.77732	0.0:0.0:0.0:1.0	.	152;307	B4E3A5;Q9NRA1	.;PDGFC_HUMAN	A	307;144;152	ENSP00000422464:E307A;ENSP00000442943:E144A;ENSP00000439728:E152A	ENSP00000422464:E307A	E	-	2	0	PDGFC	157908376	1.000000	0.71417	0.998000	0.56505	0.753000	0.42808	7.651000	0.83577	2.115000	0.64714	0.528000	0.53228	GAG	PDGFC	-	pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	ENSG00000145431		0.383	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFC	HGNC	protein_coding	OTTHUMT00000366123.1	-	0.00	34	0	T		Missense_Mutation	157688926	-1	tier1	-	no_errors	ENST00000502773	ensembl	human	known	74_37	missense	45.71	19	16	SNP	1.000	G
PDGFRB	5159	genome.wustl.edu	37	5	149493445	149493445	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:149493445delA	ENST00000261799.4	-	0	5671				CSF1R_ENST00000286301.3_5'Flank	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide						adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTTTCCCTTAAAAAAAAGTA	0.388			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																			Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	0																																										SO:0001624	3_prime_UTR_variant	0			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.*1881T>-	5.37:g.149493445delA			B5A957|Q8N5L4	RNA	DEL	-	NULL	ENST00000261799.4	37	NULL	CCDS4303.1	5																																																																																			PDGFRB	-	-	ENSG00000113721		0.388	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1		0.00	28	0	A	NM_002609		149493445	-1	tier1		no_errors	ENST00000520851	ensembl	human	putative	74_37	rna	50.00	9	9	DEL	0.978	-
PDGFRB	5159	genome.wustl.edu	37	5	149513315	149513315	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:149513315C>T	ENST00000261799.4	-	6	1237	c.768G>A	c.(766-768)cgG>cgA	p.R256R		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	256	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCCACCAGCCGCCCACTCT	0.612			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																			Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	0													67.0	71.0	70.0					5																	149513315		2203	4300	6503	SO:0001819	synonymous_variant	0			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.768G>A	5.37:g.149513315C>T			B5A957|Q8N5L4	Silent	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R256	ENST00000261799.4	37	c.768	CCDS4303.1	5																																																																																			PDGFRB	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000113721		0.612	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	-	0.00	40	0	C	NM_002609		149513315	-1	tier1	-	no_errors	ENST00000261799	ensembl	human	known	74_37	silent	29.55	31	13	SNP	0.225	T
PDLIM2	64236	genome.wustl.edu	37	8	22447194	22447195	+	Frame_Shift_Ins	INS	-	-	C	rs533019720		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:22447194_22447195insC	ENST00000397760.4	+	8	1103_1104	c.703_704insC	c.(703-705)gccfs	p.A235fs	AC037459.4_ENST00000430850.2_Frame_Shift_Ins_p.A29fs|PDLIM2_ENST00000265810.4_Frame_Shift_Ins_p.A235fs|PDLIM2_ENST00000409141.1_Frame_Shift_Ins_p.A235fs|PDLIM2_ENST00000397761.2_Frame_Shift_Ins_p.A235fs|PDLIM2_ENST00000409417.1_Frame_Shift_Ins_p.A235fs|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000339162.7_Frame_Shift_Ins_p.A235fs|PDLIM2_ENST00000308354.7_Frame_Shift_Ins_p.A485fs			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	235						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GGGACGGGCGGCCCCCCGACAG	0.649																																																	0																																										SO:0001589	frameshift_variant	0			AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.709dupC	8.37:g.22447200_22447200dupC	ENSP00000380867:p.Ala235fs		D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Frame_Shift_Ins	INS	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.R487fs	ENST00000397760.4	37	c.1453_1454		8																																																																																			PDLIM2	-	NULL	ENSG00000120913		0.649	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	PDLIM2	HGNC	protein_coding	OTTHUMT00000334167.1		0.00	58	0	-			22447195	+1	tier1		no_errors	ENST00000308354	ensembl	human	known	74_37	frame_shift_ins	28.16	74	29	INS	0.421:0.939	C
PDLIM4	8572	genome.wustl.edu	37	5	131607782	131607782	+	Missense_Mutation	SNP	G	G	A	rs202040278		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:131607782G>A	ENST00000253754.3	+	7	917	c.853G>A	c.(853-855)Ggc>Agc	p.G285S	PDLIM4_ENST00000379018.3_Silent_p.A245A|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	285	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGTGACTGCGGCCTGAACCT	0.617																																																	0													147.0	110.0	122.0					5																	131607782		2203	4300	6503	SO:0001583	missense	0			AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.853G>A	5.37:g.131607782G>A	ENSP00000253754:p.Gly285Ser		B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.G285S	ENST00000253754.3	37	c.853	CCDS4152.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.182998	0.94885	.	.	ENSG00000131435	ENST00000253754	D	0.87412	-2.25	5.05	5.05	0.67936	Zinc finger, LIM-type (5);	0.055732	0.64402	D	0.000001	D	0.93380	0.7889	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	D	0.94218	0.7465	9	0.72032	D	0.01	-19.3694	18.406	0.90536	0.0:0.0:1.0:0.0	.	285	P50479	PDLI4_HUMAN	S	285	ENSP00000253754:G285S	ENSP00000253754:G285S	G	+	1	0	PDLIM4	131635681	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.789000	0.75110	2.329000	0.79093	0.655000	0.94253	GGC	PDLIM4	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000131435		0.617	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM4	HGNC	protein_coding	OTTHUMT00000132644.2	-	0.00	46	0	G	NM_003687		131607782	+1	tier1	rs202040278	no_errors	ENST00000253754	ensembl	human	known	74_37	missense	48.28	15	14	SNP	1.000	A
PDS5B	23047	genome.wustl.edu	37	13	33344888	33344888	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:33344888delA	ENST00000315596.10	+	33	4347	c.4161delA	c.(4159-4161)ccafs	p.P1387fs		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1387					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.N1390fs*4(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CATCACAACCAAAAAAAAATG	0.338																																																	1	Deletion - Frameshift(1)	ovary(1)								50,3556		4,42,1757	60.0	59.0	59.0			3.9	0.9	13		62	127,7729		0,127,3801	no	frameshift	PDS5B	NM_015032.3		4,169,5558	A1A1,A1R,RR		1.6166,1.3866,1.5442			33344888	177,11285	1876	4103	5979	SO:0001589	frameshift_variant	0			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.4161delA	13.37:g.33344888delA	ENSP00000313851:p.Pro1387fs		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.N1390fs	ENST00000315596.10	37	c.4161	CCDS41878.1	13																																																																																			PDS5B	-	NULL	ENSG00000083642		0.338	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3		0.00	15	0	A	NM_015032		33344888	+1	tier1		no_errors	ENST00000315596	ensembl	human	known	74_37	frame_shift_del	55.56	8	10	DEL	0.002	-
PDSS1	23590	genome.wustl.edu	37	10	27035432	27035432	+	3'UTR	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:27035432C>A	ENST00000376215.5	+	0	1331				PDSS1_ENST00000376203.5_3'UTR|PDSS1_ENST00000470978.1_3'UTR	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1						isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						TGGCAGCTATCTTACCAGACT	0.368																																																	0													60.0	52.0	55.0					10																	27035432		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"""coenzyme Q1 homolog (yeast)"""	607429	"""trans-prenyltransferase"""	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.*30C>A	10.37:g.27035432C>A			Q53F75|Q6P473|Q86WQ8|Q9Y2W5	RNA	SNP	-	NULL	ENST00000376215.5	37	NULL	CCDS31168.1	10																																																																																			PDSS1	-	-	ENSG00000148459		0.368	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDSS1	HGNC	protein_coding	OTTHUMT00000047276.1	-	0.00	53	0	C			27035432	+1	tier1	-	no_errors	ENST00000470978	ensembl	human	known	74_37	rna	40.26	46	31	SNP	0.997	A
PDXDC2P	283970	genome.wustl.edu	37	16	70072984	70072984	+	RNA	DEL	T	T	-	rs569222625|rs185032058		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:70072984delT	ENST00000531894.1	-	0	333					NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										TTGCTTCAAGTTTTTTTTTTT	0.378																																																	0																																												0					16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70072984delT			A8K9Z5	RNA	DEL	-	NULL	ENST00000531894.1	37	NULL		16																																																																																			PDXDC2P	-	-	ENSG00000196696		0.378	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	PDXDC2P	HGNC	processed_transcript	OTTHUMT00000395258.1		0.00	21	0	T			70072984	-1	tier1		no_errors	ENST00000530079	ensembl	human	known	74_37	rna	42.86	16	12	DEL	0.000	-
PDZD3	79849	genome.wustl.edu	37	11	119058335	119058335	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:119058335delC	ENST00000531114.1	+	4	1330	c.781delC	c.(781-783)cccfs	p.P262fs	PDZD3_ENST00000392817.2_Frame_Shift_Del_p.P262fs|PDZD3_ENST00000355547.5_Frame_Shift_Del_p.P196fs|PDZD3_ENST00000525131.1_Frame_Shift_Del_p.P183fs|PDZD3_ENST00000322712.4_Frame_Shift_Del_p.P196fs			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	262	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGCAGGGGTGCCCCCCGGGGC	0.552																																																	0									,	10,25,4157		1,0,8,9,7,2071	14.0	18.0	17.0		,	-3.2	1.0	11		17	12,64,8084		0,0,12,25,14,4029	no	codingComplex,codingComplex	PDZD3	NM_024791.3,NM_001168468.1	,	1,0,20,34,21,6100	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9314,0.8349,0.8986	,	,	119058335	22,89,12241	2181	4257	6438	SO:0001589	frameshift_variant	0			AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.781delC	11.37:g.119058335delC	ENSP00000431164:p.Pro262fs		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Frame_Shift_Del	DEL	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A264fs	ENST00000531114.1	37	c.781		11																																																																																			PDZD3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000172367		0.552	PDZD3-004	KNOWN	basic	protein_coding	PDZD3	HGNC	protein_coding	OTTHUMT00000388471.1		0.00	42	0	C	NM_024791		119058335	+1	tier1		no_errors	ENST00000392817	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	0.987	-
PDZD7	79955	genome.wustl.edu	37	10	102778605	102778605	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:102778605C>T	ENST00000370215.3	-	8	1523	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	433						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GCTCTGGGAGCGCGTGATGGG	0.677											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001583	missense	0			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1298G>A	10.37:g.102778605C>T	ENSP00000359234:p.Arg433His	1369	D5FJ77|Q8N321	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R433H	ENST00000370215.3	37	c.1298	CCDS31269.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.524146|5.524146	0.96431|0.96431	.|.	.|.	ENSG00000186862|ENSG00000186862	ENST00000433616|ENST00000393462;ENST00000370215	.|T	.|0.44881	.|0.91	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.171040	.|0.32593	.|N	.|0.005889	T|T	0.65238|0.65238	0.2672|0.2672	M|M	0.66939|0.66939	2.045|2.045	0.54753|0.54753	D|D	0.999981|0.999981	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.998;0.999	T|T	0.68209|0.68209	-0.5469|-0.5469	5|10	.|0.87932	.|D	.|0	.|.	18.977|18.977	0.92742|0.92742	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|433;433	.|Q9H5P4;Q9H5P4-2	.|PDZD7_HUMAN;.	T|H	8|433	.|ENSP00000359234:R433H	.|ENSP00000359234:R433H	A|R	-|-	1|2	0|0	PDZD7|PDZD7	102768595|102768595	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.904000|0.904000	0.53231|0.53231	7.238000|7.238000	0.78173|0.78173	2.482000|2.482000	0.83794|0.83794	0.561000|0.561000	0.74099|0.74099	GCT|CGC	PDZD7	-	NULL	ENSG00000186862		0.677	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	-	0.00	77	0	C	NM_024895		102778605	-1	tier1	-	no_errors	ENST00000370215	ensembl	human	known	74_37	missense	42.86	28	21	SNP	0.998	T
PDZD7	79955	genome.wustl.edu	37	10	102783244	102783244	+	Missense_Mutation	SNP	C	C	T	rs551318046		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:102783244C>T	ENST00000370215.3	-	4	716	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	PDZD7_ENST00000470414.1_Missense_Mutation_p.R164Q	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	164	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GCCCATGCGCCGAACCATCAT	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17411	0.0		0.0	False		,,,				2504	0.0																0													63.0	55.0	58.0					10																	102783244		2203	4300	6503	SO:0001583	missense	0			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.491G>A	10.37:g.102783244C>T	ENSP00000359234:p.Arg164Gln		D5FJ77|Q8N321	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R164Q	ENST00000370215.3	37	c.491	CCDS31269.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.328302	0.95733	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.17213	2.29	5.05	5.05	0.67936	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	L	0.49350	1.555	0.58432	D	0.999999	D;D	0.89917	0.995;1.0	P;D	0.83275	0.823;0.996	T	0.04752	-1.0929	10	0.42905	T	0.14	.	18.39	0.90479	0.0:1.0:0.0:0.0	.	164;164	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	Q	164	ENSP00000359234:R164Q	ENSP00000359234:R164Q	R	-	2	0	PDZD7	102773234	0.951000	0.32395	0.897000	0.35233	0.812000	0.45895	7.749000	0.85096	2.337000	0.79520	0.561000	0.74099	CGG	PDZD7	-	superfamily_PDZ,smart_PDZ	ENSG00000186862		0.627	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	-	0.00	48	0	C	NM_024895		102783244	-1	tier1	-	no_errors	ENST00000370215	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.997	T
PDZD9	255762	genome.wustl.edu	37	16	21995730	21995730	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:21995730G>T	ENST00000424898.2	-	4	715	c.653C>A	c.(652-654)gCc>gAc	p.A218D	PDZD9_ENST00000286143.6_Missense_Mutation_p.A156D|PDZD9_ENST00000537222.2_Missense_Mutation_p.A158D			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	218								p.A156D(1)		breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						TGGAGAAGGGGCCCTCACTTC	0.433																																																	1	Substitution - Missense(1)	endometrium(1)											253.0	236.0	242.0					16																	21995730		2198	4300	6498	SO:0001583	missense	0			BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 65"""	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.653C>A	16.37:g.21995730G>T	ENSP00000400514:p.Ala218Asp		F5GWW8	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A218D	ENST00000424898.2	37	c.653		16	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071595	0.55646	.	.	ENSG00000155714	ENST00000424898;ENST00000537222;ENST00000286143	T	0.54675	0.56	5.43	5.43	0.79202	.	0.210126	0.33477	N	0.004878	T	0.68888	0.3050	M	0.66939	2.045	0.29566	N	0.850262	D	0.67145	0.996	D	0.65573	0.936	T	0.68580	-0.5371	10	0.72032	D	0.01	-8.0459	14.7347	0.69406	0.0:0.0:1.0:0.0	.	156	Q8IXQ8-2	.	D	218;158;156	ENSP00000400514:A218D	ENSP00000286143:A156D	A	-	2	0	PDZD9	21903231	0.976000	0.34144	0.659000	0.29680	0.207000	0.24258	2.649000	0.46656	2.542000	0.85734	0.563000	0.77884	GCC	PDZD9	-	NULL	ENSG00000155714		0.433	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PDZD9	HGNC	protein_coding	OTTHUMT00000381652.1		0.00	121	0	G	NM_173806		21995730	-1			no_errors	ENST00000424898	ensembl	human	known	74_37	missense	5.93	126	8	SNP	0.669	T
PEG3	5178	genome.wustl.edu	37	19	57325797	57325797	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:57325797C>A	ENST00000326441.9	-	10	4376	c.4013G>T	c.(4012-4014)gGt>gTt	p.G1338V	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1338V|PEG3_ENST00000593695.1_Missense_Mutation_p.G1212V|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G1214V|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1338					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAGGACTTACCACAATCCTT	0.458																																																	0													82.0	80.0	81.0					19																	57325797		2203	4300	6503	SO:0001583	missense	0			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4013G>T	19.37:g.57325797C>A	ENSP00000326581:p.Gly1338Val		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.G1338V	ENST00000326441.9	37	c.4013	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820898	0.50633	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.59906	0.23;0.23	4.48	4.48	0.54585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.143817	0.32608	N	0.005861	T	0.79317	0.4425	M	0.89414	3.03	.	.	.	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.977;1.0;1.0	D	0.84635	0.0692	9	0.87932	D	0	-42.4927	15.4772	0.75493	0.0:1.0:0.0:0.0	.	1214;1338;1273	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	V	1338	ENSP00000326581:G1338V;ENSP00000403051:G1338V	ENSP00000326581:G1338V	G	-	2	0	ZIM2	62017609	0.427000	0.25514	0.118000	0.21660	0.716000	0.41182	1.887000	0.39698	2.779000	0.95612	0.655000	0.94253	GGT	PEG3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198300		0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	HGNC	protein_coding	OTTHUMT00000416099.2	-	0.00	27	0	C			57325797	-1	tier1	-	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	39.47	23	15	SNP	0.740	A
PEMT	10400	genome.wustl.edu	37	17	17409600	17409600	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:17409600C>T	ENST00000395783.1	-	6	662	c.483G>A	c.(481-483)acG>acA	p.T161T	RP11-524F11.1_ENST00000582325.1_RNA|PEMT_ENST00000395782.1_Silent_p.T161T|PEMT_ENST00000435340.2_Missense_Mutation_p.G188R|PEMT_ENST00000255389.5_Silent_p.T198T|PEMT_ENST00000484838.2_5'UTR|PEMT_ENST00000395781.2_Missense_Mutation_p.G209R	NM_007169.2	NP_009100.2	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	161					cell proliferation (GO:0008283)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity (GO:0080101)|phosphatidyl-N-methylethanolamine N-methyltransferase activity (GO:0000773)|phosphatidylethanolamine N-methyltransferase activity (GO:0004608)			endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		GGAGCAGGCCCGTGGGGCTGG	0.692																																																	0													20.0	16.0	18.0					17																	17409600		2195	4282	6477	SO:0001819	synonymous_variant	0			AF176806	CCDS11186.1, CCDS11187.1, CCDS58520.1	17p11.2	2008-02-05			ENSG00000133027	ENSG00000133027	2.1.1.17		8830	protein-coding gene	gene with protein product		602391				9989271, 17881348	Standard	NM_148173		Approved	PEMPT, PEMT2	uc002grl.4	Q9UBM1	OTTHUMG00000059290	ENST00000395783.1:c.483G>A	17.37:g.17409600C>T			A8MZ66|B4DY41|D3DXC3|Q6IAQ5|Q86VL3|Q9BW86|Q9UHY6|Q9Y6V9	Missense_Mutation	SNP	pfam_Phopholipid_MeTrfase	p.G188R	ENST00000395783.1	37	c.562	CCDS11187.1	17	.	.	.	.	.	.	.	.	.	.	C	14.94	2.686654	0.47991	.	.	ENSG00000133027	ENST00000435340;ENST00000395781	T;T	0.30448	1.53;1.6	4.3	-4.04	0.04010	.	.	.	.	.	T	0.16041	0.0386	.	.	.	0.22489	N	0.999056	B	0.06786	0.001	B	0.04013	0.001	T	0.34551	-0.9824	8	0.87932	D	0	-10.4491	0.2487	0.00202	0.2948:0.2517:0.1407:0.3128	.	209	A8MZ66	.	R	188;209	ENSP00000391288:G188R;ENSP00000379127:G209R	ENSP00000379127:G209R	G	-	1	0	PEMT	17350325	0.813000	0.29090	0.973000	0.42090	0.574000	0.36063	-0.313000	0.08103	-0.459000	0.07013	-0.350000	0.07774	GGG	PEMT	-	NULL	ENSG00000133027		0.692	PEMT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PEMT	HGNC	protein_coding	OTTHUMT00000131657.1	-	0.00	92	0	C	NM_007169		17409600	-1	tier1	-	no_errors	ENST00000435340	ensembl	human	putative	74_37	missense	37.08	56	33	SNP	0.766	T
PENK	5179	genome.wustl.edu	37	8	57358249	57358249	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:57358249G>A	ENST00000314922.3	-	1	215				PENK_ENST00000523274.1_5'Flank|PENK_ENST00000523051.1_Intron|RP11-17A4.2_ENST00000518662.1_RNA|PENK_ENST00000451791.2_Intron|PENK_ENST00000518770.1_Silent_p.G88G	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin						aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			ACGGGCTCGCGCCGCTGCGGC	0.667																																																	0																																										SO:0001627	intron_variant	0				CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.138+125C>T	8.37:g.57358249G>A			B2RC23|Q6FHC6|Q6FHE6	Silent	SNP	pfam_Opioid_neupept,prints_Proenkphlin_A	p.G88	ENST00000314922.3	37	c.264	CCDS6168.1	8																																																																																			PENK	-	NULL	ENSG00000181195		0.667	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PENK	HGNC	protein_coding	OTTHUMT00000378645.1		0.00	35	0	G			57358249	-1			no_errors	ENST00000518770	ensembl	human	putative	74_37	silent	27.78	26	10	SNP	0.000	A
PER1	5187	genome.wustl.edu	37	17	8046844	8046844	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:8046844C>T	ENST00000317276.4	-	19	3049	c.2812G>A	c.(2812-2814)Gca>Aca	p.A938T	PER1_ENST00000581082.1_Missense_Mutation_p.A915T|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	938	Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTCTGGAGTGCCCCATAAGGA	0.647			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													22.0	13.0	16.0					17																	8046844		2195	4297	6492	SO:0001583	missense	0			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2812G>A	17.37:g.8046844C>T	ENSP00000314420:p.Ala938Thr		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.A938T	ENST00000317276.4	37	c.2812	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	C	3.608	-0.080227	0.07141	.	.	ENSG00000179094	ENST00000317276	T	0.14022	2.54	5.26	5.26	0.73747	.	0.735214	0.12330	N	0.478501	T	0.11537	0.0281	N	0.25485	0.75	0.35995	D	0.836987	B	0.16603	0.018	B	0.14023	0.01	T	0.18587	-1.0332	10	0.20519	T	0.43	-1.2622	14.3646	0.66799	0.0:1.0:0.0:0.0	.	938	O15534	PER1_HUMAN	T	938	ENSP00000314420:A938T	ENSP00000314420:A938T	A	-	1	0	PER1	7987569	0.000000	0.05858	0.785000	0.31869	0.056000	0.15407	0.351000	0.20096	2.459000	0.83118	0.563000	0.77884	GCA	PER1	-	NULL	ENSG00000179094		0.647	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	-	0.00	25	0	C			8046844	-1	tier1	-	no_errors	ENST00000317276	ensembl	human	known	74_37	missense	46.67	8	7	SNP	0.258	T
PER1	5187	genome.wustl.edu	37	17	8052896	8052896	+	Missense_Mutation	SNP	C	C	T	rs139250084	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:8052896C>T	ENST00000317276.4	-	6	974	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	PER1_ENST00000581082.1_Missense_Mutation_p.R226Q|PER1_ENST00000354903.5_Missense_Mutation_p.R230Q	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	246	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAACACGTCCCGCTTGCAACG	0.627			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					C|||	2	0.000399361	0.0015	0.0	5008	,	,		19351	0.0		0.0	False		,,,				2504	0.0							Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0								C	GLN/ARG	2,4400		0,2,2199	38.0	39.0	39.0		737	1.0	1.0	17	dbSNP_134	39	0,8594		0,0,4297	yes	missense	PER1	NM_002616.2	43	0,2,6496	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	246/1291	8052896	2,12994	2201	4297	6498	SO:0001583	missense	0			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.737G>A	17.37:g.8052896C>T	ENSP00000314420:p.Arg246Gln		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.R246Q	ENST00000317276.4	37	c.737	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955025	0.53293	4.54E-4	0.0	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.37752	2.52;1.18	5.55	0.98	0.19750	PAS (1);	0.275098	0.35772	N	0.002984	T	0.22820	0.0551	L	0.39898	1.24	0.34119	D	0.663958	B;B;B	0.25312	0.001;0.012;0.123	B;B;B	0.15870	0.001;0.003;0.014	T	0.14699	-1.0463	10	0.46703	T	0.11	-11.9622	4.9065	0.13800	0.0:0.526:0.1472:0.3268	.	246;230;246	Q6IN51;B4DI49;O15534	.;.;PER1_HUMAN	Q	246;230	ENSP00000314420:R246Q;ENSP00000346979:R230Q	ENSP00000314420:R246Q	R	-	2	0	PER1	7993621	0.011000	0.17503	1.000000	0.80357	0.960000	0.62799	-0.230000	0.09083	0.711000	0.32018	0.563000	0.77884	CGG	PER1	-	superfamily_PAS,smart_PAS	ENSG00000179094		0.627	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	-	0.00	70	0	C			8052896	-1	tier1	rs139250084	no_errors	ENST00000317276	ensembl	human	known	74_37	missense	38.81	41	26	SNP	0.975	T
PER2	8864	genome.wustl.edu	37	2	239161960	239161960	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:239161960G>T	ENST00000254657.3	-	19	2983	c.2704C>A	c.(2704-2706)Cct>Act	p.P902T	AC096574.4_ENST00000456601.1_RNA|PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	902	Interaction with PPARG. {ECO:0000250|UniProtKB:O54943}.|Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCCATGACAGGCGCCAAAGGG	0.647																																																	0													42.0	45.0	44.0					2																	239161960		2203	4300	6503	SO:0001583	missense	0			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.2704C>A	2.37:g.239161960G>T	ENSP00000254657:p.Pro902Thr		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.P902T	ENST00000254657.3	37	c.2704	CCDS2528.1	2	.	.	.	.	.	.	.	.	.	.	G	13.88	2.370243	0.42003	.	.	ENSG00000132326	ENST00000254657	T	0.20881	2.04	3.9	3.9	0.45041	.	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	M	0.65320	2	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.83275	0.888;0.996	T	0.43114	-0.9411	10	0.87932	D	0	-21.1149	14.2092	0.65753	0.0:0.0:1.0:0.0	.	902;902	B4DH14;O15055	.;PER2_HUMAN	T	902	ENSP00000254657:P902T	ENSP00000254657:P902T	P	-	1	0	PER2	238826699	1.000000	0.71417	0.276000	0.24689	0.035000	0.12851	7.271000	0.78506	2.112000	0.64535	0.561000	0.74099	CCT	PER2	-	NULL	ENSG00000132326		0.647	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	HGNC	protein_coding	OTTHUMT00000257167.1		0.00	71	0	G	NM_022817		239161960	-1			no_errors	ENST00000254657	ensembl	human	known	74_37	missense	5.97	62	4	SNP	0.754	T
PER3	8863	genome.wustl.edu	37	1	7887253	7887253	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:7887253C>T	ENST00000361923.2	+	17	2415	c.2240C>T	c.(2239-2241)cCg>cTg	p.P747L	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.P755L	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	747	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCGGAGCCGCCAGACAGC	0.642																																																	0													22.0	28.0	26.0					1																	7887253		2184	4264	6448	SO:0001583	missense	0			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.2240C>T	1.37:g.7887253C>T	ENSP00000355031:p.Pro747Leu		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.P747L	ENST00000361923.2	37	c.2240	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822427	0.32237	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.11063	2.81;2.82	4.43	1.54	0.23209	.	7739.210000	0.00424	N	0.000077	T	0.09423	0.0232	L	0.40543	1.245	0.19775	N	0.999955	B;B;P;B	0.35208	0.038;0.358;0.49;0.038	B;B;B;B	0.24006	0.005;0.022;0.05;0.005	T	0.27673	-1.0067	10	0.40728	T	0.16	.	5.7815	0.18310	0.0:0.5043:0.3185:0.1771	.	747;755;755;747	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	L	755;747	ENSP00000366755:P755L;ENSP00000355031:P747L	ENSP00000355031:P747L	P	+	2	0	PER3	7809840	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.314000	0.19432	0.158000	0.19367	0.561000	0.74099	CCG	PER3	-	NULL	ENSG00000049246		0.642	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1		0.00	15	0	C	NM_016831		7887253	+1			no_errors	ENST00000361923	ensembl	human	known	74_37	missense	54.55	5	6	SNP	0.001	T
PEX1	5189	genome.wustl.edu	37	7	92132381	92132381	+	Missense_Mutation	SNP	C	C	T	rs141510219	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:92132381C>T	ENST00000248633.4	-	13	2295	c.2200G>A	c.(2200-2202)Gtc>Atc	p.V734I	PEX1_ENST00000541751.1_Missense_Mutation_p.V151I|PEX1_ENST00000438045.1_Missense_Mutation_p.V412I|PEX1_ENST00000428214.1_Missense_Mutation_p.V677I	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	734					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATGTGTTGGACGCACTGAAAT	0.358																																																	0								C	ILE/VAL	0,4406		0,0,2203	112.0	107.0	109.0		2200	-2.6	0.0	7	dbSNP_134	109	4,8596	3.7+/-12.6	0,4,4296	yes	missense	PEX1	NM_000466.2	29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	734/1284	92132381	4,13002	2203	4300	6503	SO:0001583	missense	0			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2200G>A	7.37:g.92132381C>T	ENSP00000248633:p.Val734Ile		A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase	p.V734I	ENST00000248633.4	37	c.2200	CCDS5627.1	7	.	.	.	.	.	.	.	.	.	.	C	0.055	-1.238466	0.01493	0.0	4.65E-4	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000541751	D;D;T;D	0.82711	-1.63;-1.63;2.33;-1.64	5.68	-2.57	0.06248	ATPase, AAA+ type, core (1);	0.490953	0.23874	N	0.043708	T	0.68476	0.3005	L	0.44542	1.39	0.09310	N	1	B;B;B	0.12013	0.004;0.005;0.003	B;B;B	0.06405	0.002;0.001;0.001	T	0.53222	-0.8469	10	0.10902	T	0.67	-0.8915	7.6612	0.28404	0.1659:0.4459:0.0:0.3882	.	412;526;734	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	I	412;734;677;151	ENSP00000410438:V412I;ENSP00000248633:V734I;ENSP00000394413:V677I;ENSP00000438637:V151I	ENSP00000248633:V734I	V	-	1	0	PEX1	91970317	0.012000	0.17670	0.012000	0.15200	0.516000	0.34256	0.014000	0.13333	-0.806000	0.04398	-1.305000	0.01319	GTC	PEX1	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000127980		0.358	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX1	HGNC	protein_coding	OTTHUMT00000254066.3	-	0.00	52	0	C	NM_000466		92132381	-1	tier1	rs141510219	no_errors	ENST00000248633	ensembl	human	known	74_37	missense	32.14	38	18	SNP	0.032	T
PEX14	5195	genome.wustl.edu	37	1	10596278	10596278	+	Silent	SNP	G	G	T	rs139797106		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:10596278G>T	ENST00000356607.4	+	3	173	c.93G>T	c.(91-93)acG>acT	p.T31T	PEX14_ENST00000492696.1_3'UTR|PEX14_ENST00000538836.1_Intron	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	31					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AGATTGCCACGGCAGTGAAGT	0.463																																																	0													54.0	55.0	55.0					1																	10596278		2203	4300	6503	SO:0001819	synonymous_variant	0			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.93G>T	1.37:g.10596278G>T			B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP	pfam_Pex14_N	p.T31	ENST00000356607.4	37	c.93	CCDS30582.1	1																																																																																			PEX14	-	pfam_Pex14_N	ENSG00000142655		0.463	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX14	HGNC	protein_coding	OTTHUMT00000005414.1	-	0.00	49	0	G			10596278	+1	tier1	-	no_errors	ENST00000356607	ensembl	human	known	74_37	silent	12.82	34	5	SNP	0.895	T
PFKL	5211	genome.wustl.edu	37	21	45742906	45742906	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:45742906G>A	ENST00000349048.4	+	15	1526	c.1471G>A	c.(1471-1473)Gcc>Acc	p.A491T	PFKL_ENST00000403390.1_Missense_Mutation_p.A538T	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	491	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGGTATTCACGCCCTGCTGGT	0.617																																																	0													153.0	116.0	128.0					21																	45742906		2203	4299	6502	SO:0001583	missense	0				CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.1471G>A	21.37:g.45742906G>A	ENSP00000269848:p.Ala491Thr		Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.A538T	ENST00000349048.4	37	c.1612	CCDS33582.1	21	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263931	0.39995	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	T;T	0.79554	-1.28;-1.28	3.54	3.54	0.40534	Phosphofructokinase domain (2);	0.234431	0.34932	U	0.003575	D	0.88603	0.6481	M	0.90650	3.135	0.41726	D	0.989537	D;B	0.60160	0.987;0.331	P;B	0.56700	0.804;0.177	D	0.91287	0.5056	10	0.87932	D	0	-28.1429	12.9604	0.58455	0.0:0.0:1.0:0.0	.	491;538	P17858;P17858-2	K6PL_HUMAN;.	T	491;284;538	ENSP00000269848:A491T;ENSP00000384038:A538T	ENSP00000269848:A491T	A	+	1	0	PFKL	44567334	0.941000	0.31946	0.982000	0.44146	0.081000	0.17604	4.277000	0.58939	1.693000	0.51124	0.491000	0.48974	GCC	PFKL	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk	ENSG00000141959		0.617	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKL	HGNC	protein_coding	OTTHUMT00000195805.1	-	0.00	56	0	G			45742906	+1	tier1	-	no_errors	ENST00000403390	ensembl	human	known	74_37	missense	26.87	49	18	SNP	0.996	A
PGK2	5232	genome.wustl.edu	37	6	49754577	49754577	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:49754577A>G	ENST00000304801.3	-	1	476	c.324T>C	c.(322-324)tgT>tgC	p.C108C		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	108					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTGGGTTGGCACAGGCTTTCT	0.507																																																	0													113.0	109.0	110.0					6																	49754577		2203	4300	6503	SO:0001819	synonymous_variant	0			K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.324T>C	6.37:g.49754577A>G			B2R6Y8|Q9H107	Silent	SNP	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.C108	ENST00000304801.3	37	c.324	CCDS4930.1	6																																																																																			PGK2	-	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase	ENSG00000170950		0.507	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK2	HGNC	protein_coding	OTTHUMT00000040872.1	-	0.00	90	0	A			49754577	-1	tier1	-	no_errors	ENST00000304801	ensembl	human	known	74_37	silent	33.33	40	20	SNP	0.995	G
PGPEP1L	145814	genome.wustl.edu	37	15	99512698	99512698	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:99512698T>C	ENST00000378919.6	-	4	532	c.327A>G	c.(325-327)gtA>gtG	p.V109V	PGPEP1L_ENST00000535714.1_Silent_p.V55V|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	109							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CCTCCACAGCTACGCGCTTGC	0.617																																																	0													131.0	135.0	134.0					15																	99512698		2194	4296	6490	SO:0001819	synonymous_variant	0				CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.327A>G	15.37:g.99512698T>C			H0YF86	Silent	SNP	pfam_Peptidase_C15,superfamily_Peptidase_C15-like	p.V109	ENST00000378919.6	37	c.327	CCDS53977.1	15																																																																																			PGPEP1L	-	pfam_Peptidase_C15,superfamily_Peptidase_C15-like	ENSG00000183571		0.617	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGPEP1L	HGNC	protein_coding	OTTHUMT00000415703.1	-	0.00	53	0	T	NM_001102612.2		99512698	-1	tier1	-	no_errors	ENST00000378919	ensembl	human	known	74_37	silent	30.00	28	12	SNP	0.000	C
PGPEP1L	145814	genome.wustl.edu	37	15	99512874	99512874	+	Missense_Mutation	SNP	C	C	T	rs201422918		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:99512874C>T	ENST00000378919.6	-	4	356	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	PGPEP1L_ENST00000535714.1_De_novo_Start_InFrame|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	51							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CCCACATGCACGACGAGCTGT	0.602																																																	0								C	MET/VAL,	1,4277		0,1,2138	81.0	86.0	84.0		151,	4.4	0.9	15		84	4,8502		0,4,4249	yes	missense,utr-5	PGPEP1L	NM_001102612.2,NM_001167902.1	21,	0,5,6387	TT,TC,CC		0.047,0.0234,0.0391	probably-damaging,	51/197,	99512874	5,12779	2139	4253	6392	SO:0001583	missense	0				CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.151G>A	15.37:g.99512874C>T	ENSP00000368199:p.Val51Met		H0YF86	Missense_Mutation	SNP	pfam_Peptidase_C15,superfamily_Peptidase_C15-like	p.V51M	ENST00000378919.6	37	c.151	CCDS53977.1	15	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472555	0.43942	2.34E-4	4.7E-4	ENSG00000183571	ENST00000378919;ENST00000535714	T	0.34472	1.36	4.36	4.36	0.52297	.	.	.	.	.	T	0.62612	0.2442	M	0.81942	2.565	0.33856	D	0.633235	D	0.89917	1.0	D	0.81914	0.995	T	0.76099	-0.3083	9	0.87932	D	0	-14.176	16.0719	0.80941	0.0:1.0:0.0:0.0	.	51	A6NFU8	PGPIL_HUMAN	M	51;44	ENSP00000368199:V51M	ENSP00000368199:V51M	V	-	1	0	PGPEP1L	97330397	0.988000	0.35896	0.897000	0.35233	0.012000	0.07955	3.509000	0.53386	2.252000	0.74401	0.650000	0.86243	GTG	PGPEP1L	-	pfam_Peptidase_C15,superfamily_Peptidase_C15-like	ENSG00000183571		0.602	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PGPEP1L	HGNC	protein_coding	OTTHUMT00000415703.1	-	0.00	67	0	C	NM_001102612.2		99512874	-1	tier1	rs201422918	no_errors	ENST00000378919	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.989	T
PGR	5241	genome.wustl.edu	37	11	100962608	100962608	+	Splice_Site	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:100962608C>A	ENST00000325455.5	-	3	3243		c.e3-1		PGR_ENST00000263463.5_Splice_Site|PGR_ENST00000534013.1_Splice_Site	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor						cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TTGTGCTGCCCTAAAAAAACA	0.383																																					Pancreas(124;2271 2354 21954 22882)												0													59.0	55.0	56.0					11																	100962608		2203	4299	6502	SO:0001630	splice_region_variant	0			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1790-1G>T	11.37:g.100962608C>A			A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Splice_Site	SNP	-	e3-1	ENST00000325455.5	37	c.1790-1	CCDS8310.1	11	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746022	0.89663	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0833	0.97789	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PGR	100467818	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.617000	0.83032	2.756000	0.94617	0.655000	0.94253	.	PGR	-	-	ENSG00000082175		0.383	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1	-	0.00	51	0	C		Intron	100962608	-1	tier1	-	no_errors	ENST00000325455	ensembl	human	known	74_37	splice_site	38.24	21	13	SNP	1.000	A
PHACTR3	116154	genome.wustl.edu	37	20	58416532	58416532	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:58416532C>T	ENST00000371015.1	+	11	1996	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	PHACTR3_ENST00000395639.4_Missense_Mutation_p.A399V|PHACTR3_ENST00000361300.4_Missense_Mutation_p.A399V|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A469V|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A469V|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A507V|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A469V	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	510	Required for PP1CA binding and inhibition of PP1 activity.					nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.A510V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GTAGCAAAAGCGCAGGACTAT	0.443																																																	1	Substitution - Missense(1)	large_intestine(1)											96.0	86.0	90.0					20																	58416532		2203	4300	6503	SO:0001583	missense	0			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1529C>T	20.37:g.58416532C>T	ENSP00000360054:p.Ala510Val		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.A510V	ENST00000371015.1	37	c.1529	CCDS13480.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.204250	0.95033	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.37411	1.53;1.52;1.2;1.55;1.55;1.55;1.2	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	L	0.42245	1.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.974;0.998	D;D;P;P	0.87578	0.998;0.997;0.488;0.849	T	0.55055	-0.8200	10	0.62326	D	0.03	-14.5181	17.8285	0.88673	0.0:1.0:0.0:0.0	.	469;399;510;507	B1AN68;Q96KR7-3;Q96KR7;B1AKX0	.;.;PHAR3_HUMAN;.	V	507;510;399;469;469;469;399	ENSP00000353002:A507V;ENSP00000360054:A510V;ENSP00000379001:A399V;ENSP00000442483:A469V;ENSP00000347866:A469V;ENSP00000378998:A469V;ENSP00000354555:A399V	ENSP00000347866:A469V	A	+	2	0	PHACTR3	57849927	1.000000	0.71417	0.684000	0.30055	0.983000	0.72400	7.710000	0.84655	2.513000	0.84729	0.655000	0.94253	GCG	PHACTR3	-	NULL	ENSG00000087495		0.443	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHACTR3	HGNC	protein_coding	OTTHUMT00000079923.3	-	0.00	47	0	C	NM_080672		58416532	+1	tier1	-	no_errors	ENST00000371015	ensembl	human	known	74_37	missense	28.81	41	17	SNP	1.000	T
PHACTR3	116154	genome.wustl.edu	37	20	58422169	58422169	+	Splice_Site	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:58422169G>T	ENST00000371015.1	+	13	2131		c.e13-1		PHACTR3_ENST00000395639.4_Splice_Site|PHACTR3_ENST00000361300.4_Splice_Site|PHACTR3_ENST00000541461.1_Splice_Site|PHACTR3_ENST00000395636.2_Splice_Site|PHACTR3_ENST00000359926.3_Splice_Site|PHACTR3_ENST00000355648.4_Splice_Site	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3							nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			ATAATCTCTAGATTCCACAGG	0.299																																																	0													75.0	79.0	78.0					20																	58422169		2202	4299	6501	SO:0001630	splice_region_variant	0			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1665-1G>T	20.37:g.58422169G>T			B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Splice_Site	SNP	-	e13-1	ENST00000371015.1	37	c.1665-1	CCDS13480.1	20	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741019	0.69304	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5894	0.95501	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHACTR3	57855564	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.597000	0.74118	2.878000	0.98634	0.650000	0.86243	.	PHACTR3	-	-	ENSG00000087495		0.299	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHACTR3	HGNC	protein_coding	OTTHUMT00000079923.3	-	0.00	26	0	G	NM_080672	Intron	58422169	+1	tier1	-	no_errors	ENST00000371015	ensembl	human	known	74_37	splice_site	9.30	39	4	SNP	1.000	T
JADE2	23338	genome.wustl.edu	37	5	133897992	133897992	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:133897992G>T	ENST00000402835.1	+	7	1042	c.787G>T	c.(787-789)Gcc>Tcc	p.A263S	PHF15_ENST00000361895.2_Missense_Mutation_p.A263S|PHF15_ENST00000282605.4_Missense_Mutation_p.A263S|PHF15_ENST00000395003.1_Missense_Mutation_p.A263S																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGAGGAGGAGCCTTGAAGCC	0.622																																																	0													88.0	80.0	83.0					5																	133897992		2203	4300	6503	SO:0001583	missense	0																														ENST00000402835.1:c.787G>T	5.37:g.133897992G>T	ENSP00000384671:p.Ala263Ser			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A263S	ENST00000402835.1	37	c.787		5	.	.	.	.	.	.	.	.	.	.	G	29.6	5.022805	0.93462	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.84	5.84	0.93424	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	M	0.91818	3.245	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;0.997	D;D;D;D;D	0.97110	0.997;1.0;1.0;0.999;0.995	T	0.62868	-0.6763	10	0.87932	D	0	.	20.1432	0.98067	0.0:0.0:1.0:0.0	.	263;263;263;263;279	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	S	263;279;263;263;263;263;263	ENSP00000282605:A263S;ENSP00000354425:A263S;ENSP00000384671:A263S;ENSP00000378451:A263S	ENSP00000282605:A263S	A	+	1	0	PHF15	133925891	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	9.869000	0.99810	2.769000	0.95229	0.561000	0.74099	GCC	PHF15	-	superfamily_Znf_FYVE_PHD	ENSG00000043143		0.622	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000318543.1	-	0.00	89	0	G			133897992	+1	tier1	-	no_errors	ENST00000395003	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
JADE2	23338	genome.wustl.edu	37	5	133914940	133914940	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:133914940G>T	ENST00000282605.4	+	12	2524	c.2438G>T	c.(2437-2439)gGg>gTg	p.G813V	PHF15_ENST00000361895.2_Missense_Mutation_p.G770V|PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000395003.1_Missense_Mutation_p.G769V																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGACGGTGGGGTGCAGCGG	0.642																																																	0													48.0	48.0	48.0					5																	133914940		2203	4300	6503	SO:0001583	missense	0																														ENST00000282605.4:c.2438G>T	5.37:g.133914940G>T	ENSP00000282605:p.Gly813Val			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G769V	ENST00000282605.4	37	c.2306		5	.	.	.	.	.	.	.	.	.	.	G	9.341	1.063009	0.19987	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003	T;T;T	0.42513	0.99;0.97;0.97	5.16	4.27	0.50696	.	0.180261	0.38058	N	0.001829	T	0.27134	0.0665	N	0.08118	0	0.43403	D	0.995536	B;B;B	0.16802	0.019;0.019;0.019	B;B;B	0.19391	0.015;0.015;0.025	T	0.07046	-1.0793	10	0.66056	D	0.02	.	15.4498	0.75265	0.0:0.1394:0.8606:0.0	.	769;770;829	Q9NQC1;D3DQA3;B3KPL2	JADE2_HUMAN;.;.	V	772;829;813;770;770;769	ENSP00000282605:G813V;ENSP00000354425:G770V;ENSP00000378451:G769V	ENSP00000282605:G813V	G	+	2	0	PHF15	133942839	1.000000	0.71417	0.987000	0.45799	0.799000	0.45148	3.093000	0.50217	1.152000	0.42452	0.313000	0.20887	GGG	PHF15	-	NULL	ENSG00000043143		0.642	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000251170.1		0.00	45	0	G			133914940	+1			no_errors	ENST00000395003	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.880	T
JADE1	79960	genome.wustl.edu	37	4	129752963	129752963	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:129752963G>A	ENST00000226319.6	+	2	330	c.50G>A	c.(49-51)gGc>gAc	p.G17D	PHF17_ENST00000413543.2_Missense_Mutation_p.G17D|PHF17_ENST00000452328.2_Missense_Mutation_p.G17D|PHF17_ENST00000512960.1_Missense_Mutation_p.G17D|PHF17_ENST00000511647.1_Missense_Mutation_p.G17D	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GACGACAATGGCAGTAAGTCC	0.483																																																	0													247.0	224.0	232.0					4																	129752963		2203	4300	6503	SO:0001583	missense	0																														ENST00000226319.6:c.50G>A	4.37:g.129752963G>A	ENSP00000226319:p.Gly17Asp			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G17D	ENST00000226319.6	37	c.50	CCDS34062.1	4	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876791	0.33162	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000504089;ENST00000512960;ENST00000503785;ENST00000535321;ENST00000514740;ENST00000510308;ENST00000413543;ENST00000507833;ENST00000508997	T;T;T;T;T	0.39997	1.15;1.05;1.15;1.15;1.05	4.25	4.25	0.50352	.	0.155161	0.56097	D	0.000021	T	0.23289	0.0563	N	0.08118	0	0.58432	D	0.999999	B;B;B	0.22414	0.015;0.069;0.025	B;B;B	0.19946	0.014;0.017;0.027	T	0.06991	-1.0796	9	.	.	.	.	15.0125	0.71560	0.0:0.0:1.0:0.0	.	17;17;17	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	D	17	ENSP00000226319:G17D;ENSP00000423737:G17D;ENSP00000388015:G17D;ENSP00000425730:G17D;ENSP00000404211:G17D	.	G	+	2	0	PHF17	129972413	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.193000	0.72075	2.188000	0.69820	0.561000	0.74099	GGC	PHF17	-	NULL	ENSG00000077684		0.483	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364280.1	-	0.00	121	0	G			129752963	+1	tier1	-	no_errors	ENST00000226319	ensembl	human	known	74_37	missense	32.11	73	35	SNP	1.000	A
JADE1	79960	genome.wustl.edu	37	4	129783389	129783389	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:129783389T>C	ENST00000413543.2	+	9	1616	c.1512T>C	c.(1510-1512)atT>atC	p.I504I	PHF17_ENST00000452328.2_Intron|PHF17_ENST00000512960.1_Intron|PHF17_ENST00000511647.1_Silent_p.I504I|PHF17_ENST00000226319.6_Intron																NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGGTAATGATTGACACTGACA	0.498																																																	0													36.0	38.0	37.0					4																	129783389		2202	4300	6502	SO:0001819	synonymous_variant	0																														ENST00000413543.2:c.1512T>C	4.37:g.129783389T>C				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.I504	ENST00000413543.2	37	c.1512	CCDS47134.1	4																																																																																			PHF17	-	NULL	ENSG00000077684		0.498	PHF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364056.2	-	0.00	34	0	T			129783389	+1	tier1	-	no_errors	ENST00000413543	ensembl	human	known	74_37	silent	37.04	17	10	SNP	0.990	C
PHF2	5253	genome.wustl.edu	37	9	96422612	96422612	+	Frame_Shift_Del	DEL	A	A	-	rs76832193		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:96422612delA	ENST00000359246.4	+	12	1835	c.1468delA	c.(1468-1470)aaafs	p.K492fs	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	492	Lys-rich.|Pro-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.K492fs*6(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GAAAGTGTCCAAAAAAAAGAC	0.597																																																	1	Deletion - Frameshift(1)	large_intestine(1)											20.0	23.0	22.0					9																	96422612		2202	4299	6501	SO:0001589	frameshift_variant	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1468delA	9.37:g.96422612delA	ENSP00000352185:p.Lys492fs		Q4VXG0|Q8N3K2|Q9Y6N4	Frame_Shift_Del	DEL	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.K492fs	ENST00000359246.4	37	c.1468	CCDS35069.1	9																																																																																			PHF2	-	NULL	ENSG00000197724		0.597	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1		0.00	28	0	A	NM_005392		96422612	+1	tier1		no_errors	ENST00000359246	ensembl	human	known	74_37	frame_shift_del	33.33	14	7	DEL	1.000	-
PHF2	5253	genome.wustl.edu	37	9	96422621	96422621	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:96422621A>G	ENST00000359246.4	+	12	1844	c.1477A>G	c.(1477-1479)Act>Gct	p.T493A	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	493	Lys-rich.|Pro-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CAAAAAAAAGACTCCCAAAAC	0.582																																																	0													22.0	24.0	24.0					9																	96422621		2202	4299	6501	SO:0001583	missense	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1477A>G	9.37:g.96422621A>G	ENSP00000352185:p.Thr493Ala		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.T493A	ENST00000359246.4	37	c.1477	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	A	7.827	0.718971	0.15372	.	.	ENSG00000197724	ENST00000359246	T	0.17213	2.29	3.83	3.83	0.44106	.	0.508219	0.21133	N	0.079615	T	0.10294	0.0252	N	0.22421	0.69	0.80722	D	1	B	0.22541	0.071	B	0.18871	0.023	T	0.05818	-1.0862	10	0.07030	T	0.85	-4.436	12.7694	0.57412	1.0:0.0:0.0:0.0	.	493	O75151	PHF2_HUMAN	A	493	ENSP00000352185:T493A	ENSP00000352185:T493A	T	+	1	0	PHF2	95462442	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.830000	0.55768	1.611000	0.50210	0.254000	0.18369	ACT	PHF2	-	NULL	ENSG00000197724		0.582	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1		0.00	24	0	A	NM_005392		96422621	+1			no_errors	ENST00000359246	ensembl	human	known	74_37	missense	22.22	14	4	SNP	1.000	G
PHF2	5253	genome.wustl.edu	37	9	96422642	96422642	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:96422642C>A	ENST00000359246.4	+	12	1865	c.1498C>A	c.(1498-1500)Ccc>Acc	p.P500T	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	500	Lys-rich.|Pro-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGTGAAGATGCCCAAGCCATC	0.567																																																	0													18.0	20.0	19.0					9																	96422642		2196	4294	6490	SO:0001583	missense	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1498C>A	9.37:g.96422642C>A	ENSP00000352185:p.Pro500Thr		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.P500T	ENST00000359246.4	37	c.1498	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	C	9.607	1.130180	0.21041	.	.	ENSG00000197724	ENST00000359246	T	0.39997	1.05	3.83	3.83	0.44106	.	0.338536	0.32055	N	0.006644	T	0.21674	0.0522	N	0.08118	0	0.80722	D	1	B	0.22003	0.063	B	0.19666	0.026	T	0.06899	-1.0801	10	0.14656	T	0.56	-12.251	12.6861	0.56948	0.0:0.8331:0.1669:0.0	.	500	O75151	PHF2_HUMAN	T	500	ENSP00000352185:P500T	ENSP00000352185:P500T	P	+	1	0	PHF2	95462463	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	5.120000	0.64685	1.980000	0.57719	0.305000	0.20034	CCC	PHF2	-	NULL	ENSG00000197724		0.567	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1		0.00	21	0	C	NM_005392		96422642	+1			no_errors	ENST00000359246	ensembl	human	known	74_37	missense	23.08	10	3	SNP	1.000	A
PHF2	5253	genome.wustl.edu	37	9	96422679	96422679	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:96422679C>A	ENST00000359246.4	+	12	1902	c.1535C>A	c.(1534-1536)cCt>cAt	p.P512H	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	512	Lys-rich.|Pro-rich.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		ccgaagccccctaagccccca	0.562																																																	0													8.0	9.0	8.0					9																	96422679		2099	4091	6190	SO:0001583	missense	0			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1535C>A	9.37:g.96422679C>A	ENSP00000352185:p.Pro512His		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.P512H	ENST00000359246.4	37	c.1535	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306082	0.60305	.	.	ENSG00000197724	ENST00000359246	T	0.42131	0.98	3.83	3.83	0.44106	.	0.118469	0.34507	U	0.003905	T	0.44519	0.1297	N	0.22421	0.69	0.80722	D	1	D	0.69078	0.997	P	0.56865	0.808	T	0.47509	-0.9112	10	0.48119	T	0.1	-14.2826	15.92	0.79556	0.0:1.0:0.0:0.0	.	512	O75151	PHF2_HUMAN	H	512	ENSP00000352185:P512H	ENSP00000352185:P512H	P	+	2	0	PHF2	95462500	1.000000	0.71417	0.821000	0.32701	0.563000	0.35712	5.324000	0.65863	1.980000	0.57719	0.305000	0.20034	CCT	PHF2	-	NULL	ENSG00000197724		0.562	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	-	0.00	12	0	C	NM_005392		96422679	+1	tier1	-	no_errors	ENST00000359246	ensembl	human	known	74_37	missense	55.56	4	5	SNP	1.000	A
PHF20L1	51105	genome.wustl.edu	37	8	133826909	133826909	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:133826909delA	ENST00000395386.2	+	10	1257	c.958delA	c.(958-960)aaafs	p.K321fs	PHF20L1_ENST00000395390.2_Frame_Shift_Del_p.K296fs|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	321							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCAAAGTCAGAAAAAAAATGA	0.348																																																	0													68.0	73.0	71.0					8																	133826909		2203	4300	6503	SO:0001589	frameshift_variant	0			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.958delA	8.37:g.133826909delA	ENSP00000378784:p.Lys321fs		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Frame_Shift_Del	DEL	pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant	p.N322fs	ENST00000395386.2	37	c.958	CCDS6367.2	8																																																																																			PHF20L1	-	NULL	ENSG00000129292		0.348	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	HGNC	protein_coding	OTTHUMT00000308949.3		0.00	31	0	A	NM_016018		133826909	+1	tier1		no_errors	ENST00000395386	ensembl	human	putative	74_37	frame_shift_del	19.15	38	9	DEL	1.000	-
PHF21B	112885	genome.wustl.edu	37	22	45289355	45289355	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:45289355G>A	ENST00000313237.5	-	7	1092	c.942C>T	c.(940-942)agC>agT	p.S314S	PHF21B_ENST00000403565.1_Silent_p.S110S|PHF21B_ENST00000447824.3_Silent_p.S260S|PHF21B_ENST00000396103.3_Silent_p.S272S|PHF21B_ENST00000404079.2_Silent_p.S260S	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	314							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CCAGGAGGCCGCTGTAGGCAG	0.642																																																	0													106.0	80.0	89.0					22																	45289355		2203	4299	6502	SO:0001819	synonymous_variant	0			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.942C>T	22.37:g.45289355G>A			B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S314	ENST00000313237.5	37	c.942	CCDS14061.1	22																																																																																			PHF21B	-	NULL	ENSG00000056487		0.642	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	HGNC	protein_coding	OTTHUMT00000321731.2	-	0.00	38	0	G	NM_138415		45289355	-1	tier1	-	no_errors	ENST00000313237	ensembl	human	known	74_37	silent	39.39	20	13	SNP	1.000	A
PHF21B	112885	genome.wustl.edu	37	22	45289398	45289398	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:45289398C>T	ENST00000313237.5	-	7	1049	c.899G>A	c.(898-900)cGa>cAa	p.R300Q	PHF21B_ENST00000403565.1_Missense_Mutation_p.R96Q|PHF21B_ENST00000447824.3_Missense_Mutation_p.R246Q|PHF21B_ENST00000396103.3_Missense_Mutation_p.R258Q|PHF21B_ENST00000404079.2_Missense_Mutation_p.R246Q	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	300							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CCGCTCCTGTCGCTTGCTCTG	0.632																																																	0													131.0	93.0	106.0					22																	45289398		2203	4300	6503	SO:0001583	missense	0			AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.899G>A	22.37:g.45289398C>T	ENSP00000324403:p.Arg300Gln		B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R300Q	ENST00000313237.5	37	c.899	CCDS14061.1	22	.	.	.	.	.	.	.	.	.	.	C	32	5.158271	0.94686	.	.	ENSG00000056487	ENST00000403565;ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000414269	T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000009	T	0.73481	0.3592	L	0.57536	1.79	0.53005	D	0.999967	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.993;0.999;0.997;0.997;0.996	T	0.75966	-0.3131	10	0.59425	D	0.04	-13.1573	18.076	0.89427	0.0:1.0:0.0:0.0	.	246;258;246;300;96	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2;B1AHC5	.;.;.;PF21B_HUMAN;.	Q	96;300;258;246;246;96	ENSP00000385053:R96Q;ENSP00000324403:R300Q;ENSP00000379410:R258Q;ENSP00000385105:R246Q;ENSP00000388619:R246Q;ENSP00000401091:R96Q	ENSP00000324403:R300Q	R	-	2	0	PHF21B	43668062	1.000000	0.71417	0.996000	0.52242	0.865000	0.49528	7.054000	0.76649	2.330000	0.79161	0.655000	0.94253	CGA	PHF21B	-	NULL	ENSG00000056487		0.632	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	HGNC	protein_coding	OTTHUMT00000321731.2	-	0.00	51	0	C	NM_138415		45289398	-1	tier1	-	no_errors	ENST00000313237	ensembl	human	known	74_37	missense	45.71	19	16	SNP	1.000	T
PHF3	23469	genome.wustl.edu	37	6	64415953	64415953	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:64415953delA	ENST00000262043.3	+	12	3742	c.3402delA	c.(3400-3402)ccafs	p.P1134fs	PHF3_ENST00000393387.1_Frame_Shift_Del_p.P1134fs			Q92576	PHF3_HUMAN	PHD finger protein 3	1134					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATCTTTCTCCAAAAAAAGTAA	0.358																																					GBM(135;136 1820 29512 34071 46235)												0													102.0	96.0	98.0					6																	64415953		2203	4300	6503	SO:0001589	frameshift_variant	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3402delA	6.37:g.64415953delA	ENSP00000262043:p.Pro1134fs		A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Frame_Shift_Del	DEL	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.V1137fs	ENST00000262043.3	37	c.3402	CCDS4966.1	6																																																																																			PHF3	-	NULL	ENSG00000118482		0.358	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2		0.00	30	0	A			64415953	+1	tier1		no_errors	ENST00000262043	ensembl	human	known	74_37	frame_shift_del	40.00	21	14	DEL	0.986	-
PHGR1	644844	genome.wustl.edu	37	15	40648457	40648457	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:40648457delC	ENST00000448599.2	+	4	258	c.202delC	c.(202-204)cccfs	p.P69fs	DISP2_ENST00000267889.3_5'Flank	NM_001145643.1	NP_001139115.1	C9JFL3	PHGR1_HUMAN	proline/histidine/glycine-rich 1	69	Gly-rich.																CTGCGGGCCTCCCCCTGGCCA	0.687																																																	0													1.0	1.0	1.0					15																	40648457		206	713	919	SO:0001589	frameshift_variant	0				CCDS45225.1	15q15.1	2009-10-08				ENSG00000233041			37226	protein-coding gene	gene with protein product							Standard	NM_001145643		Approved		uc010uco.2	C9JFL3		ENST00000448599.2:c.202delC	15.37:g.40648457delC	ENSP00000410024:p.Pro69fs			Frame_Shift_Del	DEL	NULL	p.P69fs	ENST00000448599.2	37	c.202	CCDS45225.1	15																																																																																			PHGR1	-	NULL	ENSG00000233041		0.687	PHGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHGR1	HGNC	protein_coding	OTTHUMT00000418450.1		0.00	8	0	C	NM_001145643		40648457	+1			no_errors	ENST00000448599	ensembl	human	known	74_37	frame_shift_del	57.14	3	4	DEL	0.000	0
PHKG2	5261	genome.wustl.edu	37	16	30767570	30767570	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:30767570A>G	ENST00000563588.1	+	7	863	c.624A>G	c.(622-624)ccA>ccG	p.P208P	PHKG2_ENST00000328273.7_Silent_p.P208P|PHKG2_ENST00000424889.3_Silent_p.P208P	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|positive regulation of glycogen catabolic process (GO:0045819)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			ovary(1)|skin(1)	2			Colorectal(24;0.198)			AAACCCACCCAGGCTATGGCA	0.597																																																	0													169.0	156.0	160.0					16																	30767570		2197	4300	6497	SO:0001819	synonymous_variant	0			S73483, M31606	CCDS10690.1, CCDS54002.1	16p11.2	2008-02-05			ENSG00000156873	ENSG00000156873			8931	protein-coding gene	gene with protein product		172471				2915644, 8020963	Standard	NM_000294		Approved		uc021tgo.1	P15735	OTTHUMG00000132400	ENST00000563588.1:c.624A>G	16.37:g.30767570A>G			A8K0C7|B4DEB7|E9PEU3|P11800	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P208	ENST00000563588.1	37	c.624	CCDS10690.1	16																																																																																			PHKG2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000156873		0.597	PHKG2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHKG2	HGNC	protein_coding	OTTHUMT00000255531.2	-	0.00	95	0	A	NM_000294		30767570	+1	tier1	-	no_errors	ENST00000563588	ensembl	human	known	74_37	silent	6.98	80	6	SNP	0.601	G
PHLPP1	23239	genome.wustl.edu	37	18	60645905	60645905	+	Silent	SNP	C	C	T	rs377385853	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:60645905C>T	ENST00000262719.5	+	17	4629	c.4395C>T	c.(4393-4395)ggC>ggT	p.G1465G	PHLPP1_ENST00000400316.4_Silent_p.G953G			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1465					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						ATGGGCTGGGCGTGCCGTCCT	0.632													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21137	0.0		0.0	False		,,,				2504	0.0																0								C		2,4196		0,2,2097	35.0	37.0	36.0		4395	-2.5	1.0	18		36	0,8450		0,0,4225	no	coding-synonymous	PHLPP1	NM_194449.2		0,2,6322	TT,TC,CC		0.0,0.0476,0.0158		1465/1718	60645905	2,12646	2099	4225	6324	SO:0001819	synonymous_variant	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4395C>T	18.37:g.60645905C>T			A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology	p.G1465	ENST00000262719.5	37	c.4395	CCDS45881.2	18																																																																																			PHLPP1	-	NULL	ENSG00000081913		0.632	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	-	0.00	50	0	C	NM_194449		60645905	+1	tier1	-	no_errors	ENST00000262719	ensembl	human	known	74_37	silent	41.67	21	15	SNP	0.708	T
PHTF2	57157	genome.wustl.edu	37	7	77539699	77539699	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:77539699T>C	ENST00000248550.7	+	8	825	c.749T>C	c.(748-750)cTc>cCc	p.L250P	PHTF2_ENST00000307305.8_Missense_Mutation_p.L212P|PHTF2_ENST00000415251.2_Missense_Mutation_p.L212P|PHTF2_ENST00000450574.1_Missense_Mutation_p.L216P|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000275575.7_Missense_Mutation_p.L212P|PHTF2_ENST00000416283.2_Missense_Mutation_p.L216P|PHTF2_ENST00000422959.2_Missense_Mutation_p.L216P|PHTF2_ENST00000424760.1_Missense_Mutation_p.L212P			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTCAGAGATCTCTGGCATGCT	0.438																																																	0													103.0	100.0	101.0					7																	77539699		1966	4158	6124	SO:0001583	missense	0			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.749T>C	7.37:g.77539699T>C	ENSP00000248550:p.Leu250Pro		A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	pfam_TF_homeodomain_male	p.L250P	ENST00000248550.7	37	c.749		7	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059845	0.76074	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000415251;ENST00000275575;ENST00000450574;ENST00000416283;ENST00000248550	.	.	.	5.5	5.5	0.81552	.	0.129118	0.53938	D	0.000043	T	0.62429	0.2427	L	0.29908	0.895	0.80722	D	1	D;P;D;B;D;D;P;P;B	0.67145	0.978;0.946;0.992;0.008;0.976;0.996;0.824;0.95;0.156	P;P;P;B;P;P;P;P;B	0.62813	0.804;0.714;0.907;0.019;0.746;0.898;0.522;0.526;0.035	T	0.59451	-0.7452	9	0.27082	T	0.32	-8.8957	15.6105	0.76713	0.0:0.0:0.0:1.0	.	54;212;75;216;250;216;212;212;212	Q8WVD6;Q8N3S3-4;Q8N5I6;Q8N3S3-2;Q8N3S3;G5E9H7;Q8N3S3-3;B3KQZ2;E9PEE3	.;.;.;.;PHTF2_HUMAN;.;.;.;.	P	216;216;212;212;212;212;216;216;250	.	ENSP00000248550:L250P	L	+	2	0	PHTF2	77377635	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.379000	0.79691	2.094000	0.63399	0.533000	0.62120	CTC	PHTF2	-	NULL	ENSG00000006576		0.438	PHTF2-006	KNOWN	basic	protein_coding	PHTF2	HGNC	protein_coding	OTTHUMT00000340638.2	-	0.00	67	0	T	NM_020432		77539699	+1	tier1	-	no_errors	ENST00000248550	ensembl	human	known	74_37	missense	37.21	54	32	SNP	1.000	C
PHTF2	57157	genome.wustl.edu	37	7	77569581	77569581	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:77569581delT	ENST00000248550.7	+	13	1778	c.1702delT	c.(1702-1704)tttfs	p.F569fs	PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000416283.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	569					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTGGATTTTCTTTTTTTTGCT	0.303																																																	0													155.0	145.0	148.0					7																	77569581		1810	4080	5890	SO:0001589	frameshift_variant	0			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1702delT	7.37:g.77569581delT	ENSP00000248550:p.Phe569fs		A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Frame_Shift_Del	DEL	pfam_TF_homeodomain_male	p.L570fs	ENST00000248550.7	37	c.1702		7																																																																																			PHTF2	-	NULL	ENSG00000006576		0.303	PHTF2-006	KNOWN	basic	protein_coding	PHTF2	HGNC	protein_coding	OTTHUMT00000340638.2		0.00	50	0	T	NM_020432		77569581	+1	tier1		no_errors	ENST00000248550	ensembl	human	known	74_37	frame_shift_del	27.50	58	22	DEL	1.000	-
PHYHIP	9796	genome.wustl.edu	37	8	22084495	22084495	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:22084495A>G	ENST00000321613.3	-	4	665	c.209T>C	c.(208-210)aTg>aCg	p.M70T	PHYHIP_ENST00000454243.2_Missense_Mutation_p.M70T	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	70	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TCTCACCGTCATGGGCAGCGG	0.627																																																	0													53.0	62.0	59.0					8																	22084495		2169	4258	6427	SO:0001583	missense	0			D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.209T>C	8.37:g.22084495A>G	ENSP00000320017:p.Met70Thr		D3DSR1|Q8N4I9	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.M70T	ENST00000321613.3	37	c.209	CCDS43723.1	8	.	.	.	.	.	.	.	.	.	.	A	24.1	4.498658	0.85069	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000523252	T;T	0.40225	1.04;1.04	5.71	5.71	0.89125	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.58250	0.2109	L	0.46157	1.445	0.52501	D	0.999953	D	0.76494	0.999	D	0.81914	0.995	T	0.60924	-0.7166	10	0.87932	D	0	-38.0326	14.9695	0.71223	1.0:0.0:0.0:0.0	.	70	Q92561	PHYIP_HUMAN	T	70;70;22	ENSP00000320017:M70T;ENSP00000415491:M70T	ENSP00000320017:M70T	M	-	2	0	PHYHIP	22140440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.171000	0.68590	0.533000	0.62120	ATG	PHYHIP	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168490		0.627	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PHYHIP	HGNC	protein_coding	OTTHUMT00000375388.1	-	0.00	31	0	A	NM_014759		22084495	-1	tier1	-	no_errors	ENST00000454243	ensembl	human	known	74_37	missense	22.86	27	8	SNP	1.000	G
PI4KA	5297	genome.wustl.edu	37	22	21119499	21119499	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:21119499C>T	ENST00000572273.1	-	21	2519	c.2289G>A	c.(2287-2289)gaG>gaA	p.E763E	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000255882.6_Silent_p.E821E			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	763					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CACAGACCCCCTCGTACCATT	0.493																																					GBM(136;1332 1831 3115 23601 50806)												0													109.0	113.0	112.0					22																	21119499		2203	4300	6503	SO:0001819	synonymous_variant	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2289G>A	22.37:g.21119499C>T			Q7Z625|Q9UPG2	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E821	ENST00000572273.1	37	c.2463		22																																																																																			PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.493	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		-	0.00	13	0	C	NM_058004		21119499	-1	tier1	-	no_errors	ENST00000255882	ensembl	human	known	74_37	silent	36.36	21	12	SNP	0.994	T
PIAS1	8554	genome.wustl.edu	37	15	68438931	68438931	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:68438931G>T	ENST00000249636.6	+	6	869	c.721G>T	c.(721-723)Gtg>Ttg	p.V241L	PIAS1_ENST00000545237.1_Missense_Mutation_p.V243L	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	241	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V241L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AAAAAATGGCGTGGAACCAAA	0.368																																																	1	Substitution - Missense(1)	endometrium(1)											95.0	90.0	91.0					15																	68438931		1825	4074	5899	SO:0001583	missense	0			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.721G>T	15.37:g.68438931G>T	ENSP00000249636:p.Val241Leu		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.V241L	ENST00000249636.6	37	c.721	CCDS45290.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.264597	0.95399	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.43294	0.95;0.95	5.55	5.55	0.83447	PINIT domain (1);	0.000000	0.85682	D	0.000000	T	0.60418	0.2267	M	0.64567	1.98	0.80722	D	1	P;P	0.52316	0.952;0.893	P;P	0.58077	0.832;0.627	T	0.62077	-0.6930	10	0.72032	D	0.01	-9.8198	19.5037	0.95106	0.0:0.0:1.0:0.0	.	241;241	C5J4B4;O75925	.;PIAS1_HUMAN	L	241;243	ENSP00000249636:V241L;ENSP00000438574:V243L	ENSP00000249636:V241L	V	+	1	0	PIAS1	66225985	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.596000	0.87737	0.655000	0.94253	GTG	PIAS1	-	NULL	ENSG00000033800		0.368	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS1	HGNC	protein_coding	OTTHUMT00000419642.2		0.00	51	0	G			68438931	+1			no_errors	ENST00000249636	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T
PIAS1	8554	genome.wustl.edu	37	15	68438944	68438944	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:68438944G>T	ENST00000249636.6	+	6	882	c.734G>T	c.(733-735)cGa>cTa	p.R245L	PIAS1_ENST00000545237.1_Missense_Mutation_p.R247L	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	245	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R245L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GAACCAAAGCGACCCAGCCGA	0.378																																																	1	Substitution - Missense(1)	endometrium(1)											114.0	108.0	110.0					15																	68438944		1832	4072	5904	SO:0001583	missense	0			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.734G>T	15.37:g.68438944G>T	ENSP00000249636:p.Arg245Leu		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.R245L	ENST00000249636.6	37	c.734	CCDS45290.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.307116	0.95629	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.39592	1.08;1.07	5.54	5.54	0.83059	PINIT domain (1);	0.061993	0.64402	D	0.000003	T	0.71358	0.3330	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.76418	-0.2966	10	0.87932	D	0	-8.5286	19.4841	0.95022	0.0:0.0:1.0:0.0	.	245;245	C5J4B4;O75925	.;PIAS1_HUMAN	L	245;247	ENSP00000249636:R245L;ENSP00000438574:R247L	ENSP00000249636:R245L	R	+	2	0	PIAS1	66225998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.592000	0.87571	0.650000	0.86243	CGA	PIAS1	-	NULL	ENSG00000033800		0.378	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS1	HGNC	protein_coding	OTTHUMT00000419642.2	-	0.00	52	0	G			68438944	+1	tier1	-	no_errors	ENST00000249636	ensembl	human	known	74_37	missense	9.62	47	5	SNP	1.000	T
PIAS4	51588	genome.wustl.edu	37	19	4033558	4033558	+	Silent	SNP	C	C	T	rs367600720		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4033558C>T	ENST00000262971.2	+	9	1237	c.1122C>T	c.(1120-1122)taC>taT	p.Y374Y		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	374					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCCCCTACGACCAGCTCA	0.677																																																	0								C		1,4399		0,1,2199	26.0	24.0	25.0		1122	-4.5	0.9	19		25	0,8592		0,0,4296	no	coding-synonymous	PIAS4	NM_015897.2		0,1,6495	TT,TC,CC		0.0,0.0227,0.0077		374/511	4033558	1,12991	2200	4296	6496	SO:0001819	synonymous_variant	0			AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1122C>T	19.37:g.4033558C>T			O75926|Q96G19|Q9UN16	Silent	SNP	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.Y374	ENST00000262971.2	37	c.1122	CCDS12118.1	19																																																																																			PIAS4	-	pfscan_Znf_MIZ	ENSG00000105229		0.677	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS4	HGNC	protein_coding	OTTHUMT00000457496.1	-	0.00	67	0	C	NM_015897		4033558	+1	tier1	-	no_errors	ENST00000262971	ensembl	human	known	74_37	silent	43.10	33	25	SNP	0.959	T
PIEZO2	63895	genome.wustl.edu	37	18	10752835	10752835	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:10752835G>T	ENST00000503781.3	-	26	3890	c.3891C>A	c.(3889-3891)ctC>ctA	p.L1297L	PIEZO2_ENST00000580640.1_Silent_p.L1322L|PIEZO2_ENST00000383408.2_3'UTR|PIEZO2_ENST00000302079.6_Silent_p.L1297L	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1297					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										CAAACCAGAAGAGGTAGCTGA	0.428																																																	0													74.0	71.0	71.0					18																	10752835		692	1591	2283	SO:0001819	synonymous_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.3891C>A	18.37:g.10752835G>T			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	NULL	p.L1311	ENST00000503781.3	37	c.3933		18																																																																																			PIEZO2	-	NULL	ENSG00000154864		0.428	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0.00	21	0	G	NM_022068		10752835	-1	tier1	-	no_errors	ENST00000582913	ensembl	human	known	74_37	silent	30.77	18	8	SNP	1.000	T
PIEZO2	63895	genome.wustl.edu	37	18	10759835	10759835	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:10759835G>A	ENST00000503781.3	-	23	3447	c.3448C>T	c.(3448-3450)Ctg>Ttg	p.L1150L	PIEZO2_ENST00000580640.1_Silent_p.L1175L|PIEZO2_ENST00000383408.2_Silent_p.L438L|PIEZO2_ENST00000302079.6_Silent_p.L1150L	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1150					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										ACAGCGATCAGCCAGCAGGCG	0.463																																																	0													102.0	88.0	92.0					18																	10759835		692	1591	2283	SO:0001819	synonymous_variant	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.3448C>T	18.37:g.10759835G>A			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	NULL	p.L1164	ENST00000503781.3	37	c.3490		18																																																																																			PIEZO2	-	NULL	ENSG00000154864		0.463	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0.00	37	0	G	NM_022068		10759835	-1	tier1	-	no_errors	ENST00000582913	ensembl	human	known	74_37	silent	40.54	22	15	SNP	1.000	A
DNM3	26052	genome.wustl.edu	37	1	172362949	172362949	+	Intron	DEL	G	G	-	rs3768445	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:172362949delG	ENST00000355305.5	+	20	2697				PIGC_ENST00000484368.1_5'UTR|DNM3_ENST00000367731.1_Intron|DNM3_ENST00000358155.4_Intron			Q9UQ16	DYN3_HUMAN	dynamin 3						endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AAGGAAAGATGTTTTTTTAAG	0.284																																																	0																																										SO:0001627	intron_variant	0			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.2540+5000G>-	1.37:g.172362949delG			A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	RNA	DEL	-	NULL	ENST00000355305.5	37	NULL		1																																																																																			PIGC	-	-	ENSG00000135845		0.284	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	PIGC	HGNC	protein_coding	OTTHUMT00000084531.1		0.00	59	0	G	NM_015569		172362949	-1	tier1		no_errors	ENST00000484368	ensembl	human	known	74_37	rna	33.71	59	30	DEL	0.003	-
PIGQ	9091	genome.wustl.edu	37	16	624168	624168	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:624168G>T	ENST00000026218.5	+	2	182	c.94G>T	c.(94-96)Gtc>Ttc	p.V32F	PIGQ_ENST00000470411.2_Missense_Mutation_p.V32F|PIGQ_ENST00000409527.2_Missense_Mutation_p.V32F|PIGQ_ENST00000321878.5_Missense_Mutation_p.V32F	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	32					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CAGCGCCGTGGTCCTGGCGGT	0.697																																																	0													76.0	60.0	66.0					16																	624168		2199	4298	6497	SO:0001583	missense	0			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.94G>T	16.37:g.624168G>T	ENSP00000026218:p.Val32Phe		A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Missense_Mutation	SNP	pfam_GlcNAc_Gpi1	p.V32F	ENST00000026218.5	37	c.94	CCDS10411.1	16	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622323	0.66787	.	.	ENSG00000007541	ENST00000293874;ENST00000409527;ENST00000409439;ENST00000422307;ENST00000321878;ENST00000439574;ENST00000026218;ENST00000470411	T;T;T;T;T;T;T;T	0.57107	0.46;0.44;0.45;0.45;0.44;0.5;1.67;0.42	5.17	2.81	0.32909	.	0.182612	0.47093	D	0.000251	T	0.58836	0.2150	L	0.46157	1.445	0.44316	D	0.997198	D;D;P;D	0.63880	0.961;0.993;0.928;0.992	P;P;P;P	0.62298	0.64;0.809;0.66;0.9	T	0.60627	-0.7226	10	0.87932	D	0	-40.9761	8.7422	0.34564	0.2763:0.0:0.7237:0.0	.	46;32;32;32	E7ERP4;Q9BRB3;Q9BRB3-2;Q9BRB3-3	.;PIGQ_HUMAN;.;.	F	32	ENSP00000293874:V32F;ENSP00000386760:V32F;ENSP00000386554:V32F;ENSP00000413753:V32F;ENSP00000326674:V32F;ENSP00000387820:V32F;ENSP00000026218:V32F;ENSP00000439650:V32F	ENSP00000026218:V32F	V	+	1	0	PIGQ	564169	1.000000	0.71417	0.998000	0.56505	0.763000	0.43281	3.556000	0.53734	1.146000	0.42352	0.511000	0.50034	GTC	PIGQ	-	NULL	ENSG00000007541		0.697	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	HGNC	protein_coding	OTTHUMT00000239270.2	-	0.00	42	0	G	NM_004204		624168	+1	tier1	-	no_errors	ENST00000026218	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	T
PIK3AP1	118788	genome.wustl.edu	37	10	98363714	98363714	+	Intron	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:98363714delG	ENST00000339364.5	-	15	2361				PIK3AP1_ENST00000371110.2_Intron|PIK3AP1_ENST00000371109.3_Intron	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1						negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CAGGATAGGTGGGGTGGAGTC	0.527																																																	0													44.0	39.0	41.0					10																	98363714		2203	4300	6503	SO:0001627	intron_variant	0			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.2241+21C>-	10.37:g.98363714delG			Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	RNA	DEL	-	NULL	ENST00000339364.5	37	NULL	CCDS31259.1	10																																																																																			PIK3AP1	-	-	ENSG00000155629		0.527	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	HGNC	protein_coding	OTTHUMT00000049619.2		0.00	22	0	G	NM_152309		98363714	-1	tier1		no_errors	ENST00000489982	ensembl	human	known	74_37	rna	11.11	16	2	DEL	0.001	-
PIK3C2B	5287	genome.wustl.edu	37	1	204425245	204425245	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:204425245G>A	ENST00000367187.3	-	12	2304				PIK3C2B_ENST00000424712.2_Intron|PIK3C2B_ENST00000496872.1_5'UTR	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TGTTGCCATGGCATTGGCTAG	0.517																																																	0																																										SO:0001627	intron_variant	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1748-66C>T	1.37:g.204425245G>A			O95666|Q5SW99	RNA	SNP	-	NULL	ENST00000367187.3	37	NULL	CCDS1446.1	1																																																																																			PIK3C2B	-	-	ENSG00000133056		0.517	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	-	0.00	30	0	G	NM_002646		204425245	-1	tier1	-	no_errors	ENST00000496872	ensembl	human	known	74_37	rna	26.83	30	11	SNP	0.000	A
PIK3CB	5291	genome.wustl.edu	37	3	138456559	138456559	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:138456559A>C	ENST00000477593.1	-	5	864	c.791T>G	c.(790-792)aTt>aGt	p.I264S	PIK3CB_ENST00000289153.2_Missense_Mutation_p.I264S			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	264	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CTGGAACTGAATTAGTGGATG	0.313																																																	0													75.0	70.0	72.0					3																	138456559		2203	4300	6503	SO:0001583	missense	0				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.791T>G	3.37:g.138456559A>C	ENSP00000418143:p.Ile264Ser		D3DNF0|Q24JU2	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.I264S	ENST00000477593.1	37	c.791	CCDS3104.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.47|12.47	1.947153|1.947153	0.34377|0.34377	.|.	.|.	ENSG00000051382|ENSG00000051382	ENST00000462294|ENST00000477593;ENST00000289153	.|T;T	.|0.42513	.|0.97;0.97	5.82|5.82	5.82|5.82	0.92795|0.92795	.|Phosphoinositide 3-kinase, ras-binding (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33000|0.33000	0.0848|0.0848	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	D|D	1|1	.|B	.|0.33583	.|0.418	.|B	.|0.32393	.|0.145	T|T	0.10314|0.10314	-1.0635|-1.0635	5|10	.|0.11794	.|T	.|0.64	-22.2462|-22.2462	16.1917|16.1917	0.81992|0.81992	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|264	.|P42338	.|PK3CB_HUMAN	V|S	132|264	.|ENSP00000418143:I264S;ENSP00000289153:I264S	.|ENSP00000289153:I264S	F|I	-|-	1|2	0|0	PIK3CB|PIK3CB	139939249|139939249	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.610000|0.610000	0.37248|0.37248	5.958000|5.958000	0.70330|0.70330	2.216000|2.216000	0.71823|0.71823	0.533000|0.533000	0.62120|0.62120	TTC|ATT	PIK3CB	-	pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom	ENSG00000051382		0.313	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	-	0.00	41	0	A			138456559	-1	tier1	-	no_errors	ENST00000289153	ensembl	human	known	74_37	missense	40.62	19	13	SNP	1.000	C
PIK3R6	146850	genome.wustl.edu	37	17	8736327	8736327	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:8736327G>A	ENST00000311434.9	-	9	920	c.681C>T	c.(679-681)caC>caT	p.H227H	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	227					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										CCACCACGGCGTGGAAATAGT	0.687																																																	0													16.0	20.0	19.0					17																	8736327		1997	4149	6146	SO:0001819	synonymous_variant	0			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.681C>T	17.37:g.8736327G>A			Q658R3	Silent	SNP	pfam_PI3K_1B_gamma_p101_su	p.H227	ENST00000311434.9	37	c.681		17																																																																																			PIK3R6	-	pfam_PI3K_1B_gamma_p101_su	ENSG00000174083		0.687	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	PIK3R6	HGNC	protein_coding		-	0.00	48	0	G	NM_001010855		8736327	-1	tier1	-	no_errors	ENST00000311434	ensembl	human	known	74_37	silent	28.95	27	11	SNP	0.978	A
PIK3R6	146850	genome.wustl.edu	37	17	8741940	8741940	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:8741940C>T	ENST00000311434.9	-	4	369	c.130G>A	c.(130-132)Gag>Aag	p.E44K	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	44					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)										GGATCTCGCTCGACCTTCTTG	0.597																																																	0													39.0	41.0	41.0					17																	8741940		1952	4119	6071	SO:0001583	missense	0			AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.130G>A	17.37:g.8741940C>T	ENSP00000475670:p.Glu44Lys		Q658R3	Missense_Mutation	SNP	pfam_PI3K_1B_gamma_p101_su	p.E44K	ENST00000311434.9	37	c.130		17																																																																																			PIK3R6	-	pfam_PI3K_1B_gamma_p101_su	ENSG00000174083		0.597	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	PIK3R6	HGNC	protein_coding		-	0.00	19	0	C	NM_001010855		8741940	-1	tier1	-	no_errors	ENST00000311434	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.984	T
PIKFYVE	200576	genome.wustl.edu	37	2	209190598	209190598	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:209190598T>G	ENST00000264380.4	+	20	3221	c.3063T>G	c.(3061-3063)gaT>gaG	p.D1021E		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1021					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CTCTACAGGATGACACTGGAT	0.438																																																	0													92.0	96.0	95.0					2																	209190598		2203	4300	6503	SO:0001583	missense	0			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3063T>G	2.37:g.209190598T>G	ENSP00000264380:p.Asp1021Glu		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel	p.D1021E	ENST00000264380.4	37	c.3063	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	T	12.35	1.912464	0.33721	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.30182	1.54;1.66	6.17	3.64	0.41730	.	0.126768	0.51477	D	0.000083	T	0.48077	0.1480	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.994;0.999	D;P	0.72625	0.978;0.883	T	0.37478	-0.9704	10	0.21014	T	0.42	-20.0355	9.3001	0.37840	0.0:0.166:0.0:0.834	.	1021;965	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	E	1021;597;965	ENSP00000264380:D1021E;ENSP00000405736:D965E	ENSP00000264380:D1021E	D	+	3	2	PIKFYVE	208898843	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	1.143000	0.31553	0.472000	0.27344	-0.250000	0.11733	GAT	PIKFYVE	-	NULL	ENSG00000115020		0.438	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIKFYVE	HGNC	protein_coding	OTTHUMT00000256477.2	-	0.00	38	0	T	NM_015040		209190598	+1	tier1	-	no_errors	ENST00000264380	ensembl	human	known	74_37	missense	30.61	34	15	SNP	1.000	G
PINK1	65018	genome.wustl.edu	37	1	20975711	20975711	+	Missense_Mutation	SNP	G	G	A	rs143620063		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:20975711G>A	ENST00000321556.4	+	7	1569	c.1475G>A	c.(1474-1476)cGa>cAa	p.R492Q	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	492	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGCTCCAGCGAGAGGCCAGC	0.617																																					Esophageal Squamous(145;853 1803 8146 34412 35011)												0								G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	53.0	53.0	53.0		1475	6.2	1.0	1	dbSNP_134	53	0,8600		0,0,4300	no	missense	PINK1	NM_032409.2	43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	492/582	20975711	2,13004	2203	4300	6503	SO:0001583	missense	0			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1475G>A	1.37:g.20975711G>A	ENSP00000364204:p.Arg492Gln		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R492Q	ENST00000321556.4	37	c.1475	CCDS211.1	1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.004824	0.93287	4.54E-4	0.0	ENSG00000158828	ENST00000321556	T	0.74002	-0.8	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.055037	0.64402	D	0.000001	D	0.84370	0.5457	M	0.64080	1.96	0.48696	D	0.999693	D;D	0.89917	1.0;1.0	D;D	0.74348	0.946;0.983	D	0.84115	0.0403	10	0.59425	D	0.04	-5.7246	16.3795	0.83443	0.0:0.0:1.0:0.0	.	185;492	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	Q	492	ENSP00000364204:R492Q	ENSP00000364204:R492Q	R	+	2	0	PINK1	20848298	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.564000	0.67359	2.941000	0.99782	0.655000	0.94253	CGA	PINK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000158828		0.617	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINK1	HGNC	protein_coding	OTTHUMT00000007954.1	-	0.00	18	0	G	NM_032409		20975711	+1	tier1	rs143620063	no_errors	ENST00000321556	ensembl	human	known	74_37	missense	30.43	16	7	SNP	1.000	A
PINK1	65018	genome.wustl.edu	37	1	20976948	20976948	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:20976948G>A	ENST00000321556.4	+	8	1604	c.1510G>A	c.(1510-1512)Gca>Aca	p.A504T	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	504	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.A504T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCGAGTAGCCGCAAATGTGCT	0.502																																					Esophageal Squamous(145;853 1803 8146 34412 35011)												1	Substitution - Missense(1)	kidney(1)											55.0	46.0	49.0					1																	20976948		2203	4300	6503	SO:0001583	missense	0			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1510G>A	1.37:g.20976948G>A	ENSP00000364204:p.Ala504Thr		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A504T	ENST00000321556.4	37	c.1510	CCDS211.1	1	.	.	.	.	.	.	.	.	.	.	G	30	5.057409	0.93846	.	.	ENSG00000158828	ENST00000321556	T	0.73897	-0.79	5.83	5.83	0.93111	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87474	0.6186	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.88696	0.3212	10	0.72032	D	0.01	-21.0967	15.6208	0.76805	0.0:0.0:1.0:0.0	.	197;504	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	T	504	ENSP00000364204:A504T	ENSP00000364204:A504T	A	+	1	0	PINK1	20849535	1.000000	0.71417	0.942000	0.38095	0.947000	0.59692	7.702000	0.84576	2.755000	0.94549	0.491000	0.48974	GCA	PINK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000158828		0.502	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINK1	HGNC	protein_coding	OTTHUMT00000007954.1	-	0.00	68	0	G	NM_032409		20976948	+1	tier1	-	no_errors	ENST00000321556	ensembl	human	known	74_37	missense	37.35	52	31	SNP	0.999	A
PIP4K2B	8396	genome.wustl.edu	37	17	36943140	36943140	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:36943140T>C	ENST00000269554.3	-	2	673	c.193A>G	c.(193-195)Atg>Gtg	p.M65V	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	65	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				cell surface receptor signaling pathway (GO:0007166)|intracellular signal transduction (GO:0035556)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|receptor signaling protein activity (GO:0005057)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						GGCATTAGCATGACAGGAACA	0.468																																																	0													279.0	236.0	250.0					17																	36943140		2203	4300	6503	SO:0001583	missense	0			U85245	CCDS11329.1	17q21.2	2007-08-14	2007-08-14	2007-08-14		ENSG00000276293	2.7.1.149		8998	protein-coding gene	gene with protein product		603261	"""phosphatidylinositol-4-phosphate 5-kinase, type II, beta"""	PIP5K2B		9038203, 14691457, 9367159	Standard	NM_003559		Approved	PIP5KIIB, PIP5KIIbeta	uc002hqs.3	P78356		ENST00000269554.3:c.193A>G	17.37:g.36943140T>C	ENSP00000269554:p.Met65Val		Q5U0E8|Q8TBP2	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.M65V	ENST00000269554.3	37	c.193	CCDS11329.1	17	.	.	.	.	.	.	.	.	.	.	T	13.84	2.355965	0.41700	.	.	ENSG00000141720	ENST00000269554;ENST00000311500	T	0.28895	1.59	5.29	5.29	0.74685	Phosphatidylinositol-4-phosphate 5-kinase, core (1);	0.000000	0.85682	D	0.000000	T	0.29817	0.0745	L	0.47716	1.5	0.80722	D	1	B;B;P	0.35872	0.218;0.324;0.525	B;B;B	0.38500	0.075;0.157;0.275	T	0.04255	-1.0965	10	0.20519	T	0.43	-27.4424	14.1905	0.65635	0.0:0.0:0.0:1.0	.	65;65;65	C9JMM2;P78356-2;P78356	.;.;PI42B_HUMAN	V	65	ENSP00000269554:M65V	ENSP00000269554:M65V	M	-	1	0	PIP4K2B	34196666	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.868000	0.87116	2.224000	0.72417	0.459000	0.35465	ATG	PIP4K2B	-	NULL	ENSG00000141720		0.468	PIP4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2B	HGNC	protein_coding	OTTHUMT00000256791.1	-	0.00	90	0	T	NM_003559		36943140	-1	tier1	-	no_errors	ENST00000269554	ensembl	human	known	74_37	missense	45.98	47	40	SNP	1.000	C
PIPSL	266971	genome.wustl.edu	37	10	95718520	95718520	+	RNA	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:95718520C>T	ENST00000480546.1	-	0	2777					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										TCCGTGCTTCCCATGCAGTCC	0.448																																																	0																																												0			BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95718520C>T			Q6NUK8	RNA	SNP	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			PIPSL	-	-	ENSG00000180764		0.448	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	HGNC	pseudogene	OTTHUMT00000351483.1	-	0.00	77	0	C	NR_002319		95718520	-1	tier1	-	no_errors	ENST00000480546	ensembl	human	putative	74_37	rna	34.55	36	19	SNP	0.852	T
PIPSL	266971	genome.wustl.edu	37	10	95719860	95719860	+	RNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:95719860G>A	ENST00000480546.1	-	0	1437					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										GAGACCAATGGCTGGTAAGTA	0.512																																																	0																																												0			BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95719860G>A			Q6NUK8	RNA	SNP	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			PIPSL	-	-	ENSG00000180764		0.512	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	HGNC	pseudogene	OTTHUMT00000351483.1	-	0.00	115	0	G	NR_002319		95719860	-1	tier1	-	no_errors	ENST00000480546	ensembl	human	putative	74_37	rna	40.40	59	40	SNP	0.977	A
PISD	23761	genome.wustl.edu	37	22	32046690	32046690	+	Missense_Mutation	SNP	C	C	T	rs537781569		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:32046690C>T	ENST00000439502.2	-	2	363	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PISD_ENST00000336566.4_Missense_Mutation_p.R47H			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	47					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	CTTACCTGTGCGAAAGGCTCT	0.458																																																	0																																										SO:0001583	missense	0				CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.140G>A	22.37:g.32046690C>T	ENSP00000391739:p.Arg47His		B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Missense_Mutation	SNP	pfam_PS_Dcarbxylase,tigrfam_PS_decarb	p.R47H	ENST00000439502.2	37	c.140		22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.335|8.335	0.827441|0.827441	0.16749|0.16749	.|.	.|.	ENSG00000241878|ENSG00000241878	ENST00000435900|ENST00000439502;ENST00000336566	.|.	.|.	.|.	5.13|5.13	-5.6|-5.6	0.02497|0.02497	.|.	.|2.130620	.|0.03010	.|U	.|0.149270	T|T	0.22475|0.22475	0.0542|0.0542	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999995|0.999995	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.14254|0.14254	-1.0479|-1.0479	4|8	.|0.17832	.|T	.|0.49	0.1946|0.1946	7.6368|7.6368	0.28272|0.28272	0.0:0.3407:0.1391:0.5201|0.0:0.3407:0.1391:0.5201	.|.	.|37;47	.|B1AJZ0;Q9UG56	.|.;PISD_HUMAN	T|H	38|47	.|.	.|ENSP00000338695:R47H	A|R	-|-	1|2	0|0	PISD|PISD	30376690|30376690	0.001000|0.001000	0.12720|0.12720	0.196000|0.196000	0.23383|0.23383	0.709000|0.709000	0.40893|0.40893	-0.484000|-0.484000	0.06528|0.06528	-0.771000|-0.771000	0.04608|0.04608	-0.136000|-0.136000	0.14681|0.14681	GCA|CGC	PISD	-	NULL	ENSG00000241878		0.458	PISD-001	KNOWN	basic	protein_coding	PISD	HGNC	protein_coding	OTTHUMT00000075106.4	-	0.00	24	0	C			32046690	-1	tier1	-	no_errors	ENST00000439502	ensembl	human	known	74_37	missense	41.18	20	14	SNP	0.055	T
PJA2	9867	genome.wustl.edu	37	5	108691648	108691648	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:108691648C>T	ENST00000361189.2	-	7	1971	c.1732G>A	c.(1732-1734)Gca>Aca	p.A578T	PJA2_ENST00000361557.3_Missense_Mutation_p.A578T	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	578	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		TCTTCTAGTGCCATGTAGGTA	0.378																																																	0													128.0	129.0	129.0					5																	108691648		2202	4300	6502	SO:0001583	missense	0			AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1732G>A	5.37:g.108691648C>T	ENSP00000354775:p.Ala578Thr		A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A578T	ENST00000361189.2	37	c.1732	CCDS4099.1	5	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870751	0.91587	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.06768	3.26;3.26	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	T	0.17831	0.0428	N	0.17082	0.46	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.06338	-1.0832	10	0.66056	D	0.02	-21.5623	19.2339	0.93850	0.0:1.0:0.0:0.0	.	578	O43164	PJA2_HUMAN	T	578	ENSP00000354775:A578T;ENSP00000355284:A578T	ENSP00000354775:A578T	A	-	1	0	PJA2	108719547	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.913000	0.69957	2.775000	0.95449	0.650000	0.86243	GCA	PJA2	-	NULL	ENSG00000198961		0.378	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PJA2	HGNC	protein_coding	OTTHUMT00000250663.1	-	0.00	40	0	C	NM_014819		108691648	-1	tier1	-	no_errors	ENST00000361189	ensembl	human	known	74_37	missense	33.33	26	13	SNP	1.000	T
PKD1	5310	genome.wustl.edu	37	16	2156530	2156530	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:2156530C>T	ENST00000262304.4	-	18	7566	c.7358G>A	c.(7357-7359)cGc>cAc	p.R2453H	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Missense_Mutation_p.R2453H	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2453	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTCGCCAGAGCGGCCCAGCAC	0.726																																																	0													10.0	12.0	12.0					16																	2156530		2136	4226	6362	SO:0001583	missense	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7358G>A	16.37:g.2156530C>T	ENSP00000262304:p.Arg2453His		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.R2453H	ENST00000262304.4	37	c.7358	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	c	7.358	0.624240	0.14193	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101;ENST00000382481	T;T	0.70164	-0.46;-0.46	4.81	-9.61	0.00550	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);Polycystin cation channel (1);	1.506690	0.03433	N	0.208082	T	0.41236	0.1150	N	0.22421	0.69	0.09310	N	1	B;B	0.15473	0.013;0.012	B;B	0.09377	0.002;0.004	T	0.28004	-1.0057	10	0.29301	T	0.29	.	0.3857	0.00402	0.2415:0.2015:0.1917:0.3653	.	2453;2453	P98161-3;P98161	.;PKD1_HUMAN	H	2453;2453;1804;732	ENSP00000262304:R2453H;ENSP00000399501:R2453H	ENSP00000262304:R2453H	R	-	2	0	PKD1	2096531	0.000000	0.05858	0.000000	0.03702	0.213000	0.24496	-1.317000	0.02707	-2.983000	0.00282	-1.472000	0.01007	CGC	PKD1	-	pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat	ENSG00000008710		0.726	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	-	0.00	74	0	C			2156530	-1	tier1	-	no_errors	ENST00000262304	ensembl	human	known	74_37	missense	48.21	29	27	SNP	0.000	T
PKD1L1	168507	genome.wustl.edu	37	7	47842891	47842891	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:47842891C>T	ENST00000289672.2	-	53	7929	c.7879G>A	c.(7879-7881)Gtc>Atc	p.V2627I	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2627					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGAAGATAGACGCATTTTAAT	0.498																																																	0													145.0	129.0	135.0					7																	47842891		2203	4300	6503	SO:0001583	missense	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7879G>A	7.37:g.47842891C>T	ENSP00000289672:p.Val2627Ile		Q6UWK1	Missense_Mutation	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.V2627I	ENST00000289672.2	37	c.7879	CCDS34633.1	7	.	.	.	.	.	.	.	.	.	.	C	0.139	-1.104268	0.01828	.	.	ENSG00000158683	ENST00000289672	T	0.69926	-0.44	5.18	-10.4	0.00318	Polycystin cation channel, PKD1/PKD2 (1);	2.414090	0.01876	N	0.037596	T	0.36690	0.0976	N	0.04203	-0.255	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.33266	-0.9875	10	0.08599	T	0.76	-0.4855	10.7542	0.46225	0.0:0.4091:0.3386:0.2523	.	2627	Q8TDX9	PK1L1_HUMAN	I	2627	ENSP00000289672:V2627I	ENSP00000289672:V2627I	V	-	1	0	PKD1L1	47809416	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-3.800000	0.00363	-2.746000	0.00377	-1.371000	0.01190	GTC	PKD1L1	-	pfam_PKD1_2_channel	ENSG00000158683		0.498	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	-	0.00	42	0	C	NM_138295		47842891	-1	tier1	-	no_errors	ENST00000289672	ensembl	human	known	74_37	missense	43.40	30	23	SNP	0.000	T
PKD1L1	168507	genome.wustl.edu	37	7	47852865	47852865	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:47852865G>A	ENST00000289672.2	-	49	7250	c.7200C>T	c.(7198-7200)atC>atT	p.I2400I	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2400					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TAGAGTCTTCGATGAGTGCTG	0.537																																																	0													72.0	74.0	74.0					7																	47852865		2203	4300	6503	SO:0001819	synonymous_variant	0			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7200C>T	7.37:g.47852865G>A			Q6UWK1	Silent	SNP	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.I2400	ENST00000289672.2	37	c.7200	CCDS34633.1	7																																																																																			PKD1L1	-	NULL	ENSG00000158683		0.537	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	HGNC	protein_coding	OTTHUMT00000340974.1	-	0.00	82	0	G	NM_138295		47852865	-1	tier1	-	no_errors	ENST00000289672	ensembl	human	known	74_37	silent	52.83	25	28	SNP	0.000	A
PKHD1L1	93035	genome.wustl.edu	37	8	110476889	110476889	+	Missense_Mutation	SNP	G	G	A	rs368232255		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:110476889G>A	ENST00000378402.5	+	49	7932	c.7828G>A	c.(7828-7830)Gaa>Aaa	p.E2610K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2610					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCCCTTGGCGAATTTTTTAA	0.443										HNSCC(38;0.096)																																							0								G	LYS/GLU	0,3732		0,0,1866	101.0	101.0	101.0		7828	4.0	1.0	8		101	1,8215		0,1,4107	no	missense	PKHD1L1	NM_177531.4	56	0,1,5973	AA,AG,GG		0.0122,0.0,0.0084	possibly-damaging	2610/4244	110476889	1,11947	1866	4108	5974	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7828G>A	8.37:g.110476889G>A	ENSP00000367655:p.Glu2610Lys		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.E2610K	ENST00000378402.5	37	c.7828	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676324	0.47886	0.0	1.22E-4	ENSG00000205038	ENST00000378402	T	0.80480	-1.38	5.79	3.99	0.46301	Pectin lyase fold/virulence factor (1);	0.265965	0.35708	N	0.003027	T	0.76018	0.3929	L	0.48642	1.525	0.24537	N	0.994086	P	0.51537	0.946	B	0.43867	0.434	T	0.66031	-0.6024	10	0.36615	T	0.2	.	13.5739	0.61862	0.1436:0.0:0.8564:0.0	.	2610	Q86WI1	PKHL1_HUMAN	K	2610	ENSP00000367655:E2610K	ENSP00000367655:E2610K	E	+	1	0	PKHD1L1	110546065	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	3.388000	0.52509	0.377000	0.24735	-0.797000	0.03246	GAA	PKHD1L1	-	superfamily_Pectin_lyase_fold/virulence	ENSG00000205038		0.443	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0.00	47	0	G	NM_177531		110476889	+1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	18.97	47	11	SNP	0.996	A
PLA2G16	11145	genome.wustl.edu	37	11	63365556	63365556	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:63365556T>C	ENST00000323646.5	-	2	449	c.95A>G	c.(94-96)tAt>tGt	p.Y32C	PLA2G16_ENST00000415826.1_Missense_Mutation_p.Y32C|PLA2G16_ENST00000394613.3_5'UTR	NM_007069.3	NP_009000.2	P53816	HRSL3_HUMAN	phospholipase A2, group XVI	32					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|negative regulation of cell cycle (GO:0045786)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	1-acyl-2-lysophosphatidylserine acylhydrolase activity (GO:0052740)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phosphatidylserine 1-acylhydrolase activity (GO:0052739)|phospholipase A2 activity (GO:0004623)			kidney(2)|lung(1)|ovary(1)|skin(1)	5						ATGAACCACATATCCATCGCC	0.547																																																	0													121.0	98.0	106.0					11																	63365556		2201	4298	6499	SO:0001583	missense	0			X92814	CCDS8047.1	11q12.3	2014-03-14	2008-09-19	2008-09-19	ENSG00000176485	ENSG00000176485	3.1.1.4		17825	protein-coding gene	gene with protein product	"""adipose-specific PLA2"""	613867	"""HRAS-like suppressor 3"""	HRASLS3		9771974, 18614531	Standard	NM_007069		Approved	HREV107, H-REV107-1, HREV107-3, MGC118754., AdPLA	uc009you.1	P53816	OTTHUMG00000167852	ENST00000323646.5:c.95A>G	11.37:g.63365556T>C	ENSP00000320337:p.Tyr32Cys		B2R7Q4|B7XAK5|Q3SYI3|Q9HDD1	Missense_Mutation	SNP	pfam_LRAT-like_dom	p.Y32C	ENST00000323646.5	37	c.95	CCDS8047.1	11	.	.	.	.	.	.	.	.	.	.	T	11.23	1.577466	0.28180	.	.	ENSG00000176485	ENST00000323646;ENST00000415826	T;T	0.22539	1.95;1.95	5.97	4.84	0.62591	.	0.139714	0.49916	D	0.000137	T	0.24967	0.0606	L	0.53617	1.68	0.43338	D	0.995381	P;B	0.34864	0.473;0.061	B;B	0.41271	0.352;0.125	T	0.02512	-1.1148	10	0.37606	T	0.19	-5.3326	10.6591	0.45692	0.0:0.0773:0.0:0.9227	.	63;32	Q3MI98;P53816	.;PAG16_HUMAN	C	32	ENSP00000320337:Y32C;ENSP00000389124:Y32C	ENSP00000320337:Y32C	Y	-	2	0	PLA2G16	63122132	0.998000	0.40836	1.000000	0.80357	0.312000	0.27988	2.727000	0.47311	2.288000	0.76882	0.533000	0.62120	TAT	PLA2G16	-	NULL	ENSG00000176485		0.547	PLA2G16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G16	HGNC	protein_coding	OTTHUMT00000396632.1	-	0.00	85	0	T	NM_001128203		63365556	-1	tier1	-	no_errors	ENST00000323646	ensembl	human	known	74_37	missense	38.33	37	23	SNP	1.000	C
PLA2G6	8398	genome.wustl.edu	37	22	38541585	38541585	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:38541585A>G	ENST00000332509.3	-	3	468	c.285T>C	c.(283-285)taT>taC	p.Y95Y	PLA2G6_ENST00000436218.1_Silent_p.Y95Y|PLA2G6_ENST00000335539.3_Silent_p.Y95Y|PLA2G6_ENST00000447598.2_3'UTR|PLA2G6_ENST00000402064.1_Silent_p.Y95Y	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	95					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGGAGCTCTCATAGAAGGGTA	0.582																																																	0													53.0	50.0	51.0					22																	38541585		2203	4300	6503	SO:0001819	synonymous_variant	0			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.285T>C	22.37:g.38541585A>G			A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Silent	SNP	pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Y95	ENST00000332509.3	37	c.285	CCDS13967.1	22																																																																																			PLA2G6	-	NULL	ENSG00000184381		0.582	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G6	HGNC	protein_coding	OTTHUMT00000321860.1	-	0.00	39	0	A	NM_001004426		38541585	-1	tier1	-	no_errors	ENST00000332509	ensembl	human	known	74_37	silent	38.24	21	13	SNP	0.948	G
PLAGL1	5325	genome.wustl.edu	37	6	144263029	144263029	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:144263029G>A	ENST00000360537.2	-	5	2837	c.924C>T	c.(922-924)acC>acT	p.T308T	PLAGL1_ENST00000392307.1_Silent_p.T256T|PLAGL1_ENST00000416623.1_Silent_p.T308T|PLAGL1_ENST00000392309.1_Silent_p.T308T|PLAGL1_ENST00000354765.2_Silent_p.T308T|PLAGL1_ENST00000429150.1_Silent_p.T308T|PLAGL1_ENST00000367571.1_Silent_p.T308T|PLAGL1_ENST00000367572.1_Silent_p.T256T|PLAGL1_ENST00000437412.1_Silent_p.T256T|PLAGL1_ENST00000444202.1_Silent_p.T308T			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	308					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GGGAGTATGAGGTAGAAGTGG	0.552											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													91.0	93.0	92.0					6																	144263029		2203	4300	6503	SO:0001819	synonymous_variant	0			U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"""Zinc fingers, C2H2-type"""	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.924C>T	6.37:g.144263029G>A		1685	B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T308	ENST00000360537.2	37	c.924	CCDS5202.1	6																																																																																			PLAGL1	-	NULL	ENSG00000118495		0.552	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAGL1	HGNC	protein_coding	OTTHUMT00000042541.1	-	0.00	26	0	G			144263029	-1	tier1	-	no_errors	ENST00000354765	ensembl	human	known	74_37	silent	44.44	10	8	SNP	1.000	A
PLB1	151056	genome.wustl.edu	37	2	28788159	28788159	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:28788159G>A	ENST00000327757.5	+	19	1263	c.1219G>A	c.(1219-1221)Gcc>Acc	p.A407T	PLB1_ENST00000422425.2_Missense_Mutation_p.A418T|PLB1_ENST00000329020.6_Missense_Mutation_p.A95T	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	407	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGGCAATGGGGCCGGGTCCAC	0.587																																																	0													67.0	60.0	62.0					2																	28788159		2203	4300	6503	SO:0001583	missense	0				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.1219G>A	2.37:g.28788159G>A	ENSP00000330442:p.Ala407Thr		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	pfam_Lipase_GDSL	p.A418T	ENST00000327757.5	37	c.1252	CCDS33168.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943549	0.73672	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000436544;ENST00000329020	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.39	5.39	0.77823	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.149324	0.48767	D	0.000178	T	0.67924	0.2945	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;0.992;0.999	D;D;D	0.81914	0.995;0.917;0.977	T	0.70612	-0.4824	10	0.42905	T	0.14	-24.4527	14.657	0.68841	0.0:0.0:1.0:0.0	.	418;95;407	Q6P1J6-3;Q6P1J6-2;Q6P1J6	.;.;PLB1_HUMAN	T	407;418;117;95	ENSP00000330442:A407T;ENSP00000416440:A418T;ENSP00000392493:A117T;ENSP00000330729:A95T	ENSP00000330442:A407T	A	+	1	0	PLB1	28641663	1.000000	0.71417	0.902000	0.35471	0.427000	0.31564	4.195000	0.58400	2.530000	0.85305	0.561000	0.74099	GCC	PLB1	-	pfam_Lipase_GDSL	ENSG00000163803		0.587	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2	-	0.00	71	0	G			28788159	+1	tier1	-	no_errors	ENST00000422425	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.920	A
PLCB3	5331	genome.wustl.edu	37	11	64022235	64022235	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:64022235G>A	ENST00000540288.1	+	3	296	c.193G>A	c.(193-195)Gac>Aac	p.D65N	PLCB3_ENST00000325234.5_Intron|PLCB3_ENST00000279230.6_Missense_Mutation_p.D65N	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	65					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GGACACACTGGACATCAGTTC	0.622																																																	0													84.0	80.0	81.0					11																	64022235		2201	4297	6498	SO:0001583	missense	0			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.193G>A	11.37:g.64022235G>A	ENSP00000443631:p.Asp65Asn		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.D65N	ENST00000540288.1	37	c.193	CCDS8064.1	11	.	.	.	.	.	.	.	.	.	.	g	27.0	4.795488	0.90453	.	.	ENSG00000149782	ENST00000279230;ENST00000540288	T;T	0.52754	0.65;0.65	4.39	4.39	0.52855	.	0.113535	0.64402	D	0.000020	T	0.71710	0.3372	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.77830	-0.2442	10	0.56958	D	0.05	.	16.1156	0.81304	0.0:0.0:1.0:0.0	.	65	Q01970	PLCB3_HUMAN	N	65	ENSP00000279230:D65N;ENSP00000443631:D65N	ENSP00000279230:D65N	D	+	1	0	PLCB3	63778811	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	7.150000	0.77403	2.144000	0.66660	0.556000	0.70494	GAC	PLCB3	-	pirsf_PLC-beta	ENSG00000149782		0.622	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	-	0.00	40	0	G			64022235	+1	tier1	-	no_errors	ENST00000279230	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	A
PLCB3	5331	genome.wustl.edu	37	11	64031214	64031214	+	Missense_Mutation	SNP	C	C	T	rs142407686		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:64031214C>T	ENST00000540288.1	+	21	2610	c.2507C>T	c.(2506-2508)cCg>cTg	p.P836L	PLCB3_ENST00000325234.5_Missense_Mutation_p.P769L|PLCB3_ENST00000279230.6_Missense_Mutation_p.P836L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	836					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CTGTGCCTGCCGGCCCTGCTC	0.667																																																	0								C	LEU/PRO,LEU/PRO	1,4401	2.1+/-5.4	0,1,2200	109.0	104.0	106.0		2507,2306	5.2	1.0	11	dbSNP_134	106	0,8594		0,0,4297	no	missense,missense	PLCB3	NM_000932.2,NM_001184883.1	98,98	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	836/1235,769/1168	64031214	1,12995	2201	4297	6498	SO:0001583	missense	0			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2507C>T	11.37:g.64031214C>T	ENSP00000443631:p.Pro836Leu		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.P836L	ENST00000540288.1	37	c.2507	CCDS8064.1	11	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862356	0.91511	2.27E-4	0.0	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.12465	2.68;2.68;2.68	5.25	5.25	0.73442	C2 calcium/lipid-binding domain, CaLB (1);	0.053288	0.85682	D	0.000000	T	0.41442	0.1159	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.956;0.977	T	0.39375	-0.9617	10	0.87932	D	0	.	17.6185	0.88074	0.0:1.0:0.0:0.0	.	769;836	G5E960;Q01970	.;PLCB3_HUMAN	L	836;836;769	ENSP00000279230:P836L;ENSP00000443631:P836L;ENSP00000324660:P769L	ENSP00000279230:P836L	P	+	2	0	PLCB3	63787790	1.000000	0.71417	0.975000	0.42487	0.638000	0.38207	7.645000	0.83430	2.462000	0.83206	0.561000	0.74099	CCG	PLCB3	-	pirsf_PLC-beta,superfamily_C2_dom	ENSG00000149782		0.667	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	-	0.00	113	0	C			64031214	+1	tier1	rs142407686	no_errors	ENST00000279230	ensembl	human	known	74_37	missense	31.58	52	24	SNP	1.000	T
PLD3	23646	genome.wustl.edu	37	19	40883777	40883777	+	Missense_Mutation	SNP	C	C	T	rs201893308		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:40883777C>T	ENST00000409587.1	+	12	1667	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	PLD3_ENST00000409419.1_Missense_Mutation_p.R424C|PLD3_ENST00000409281.1_Missense_Mutation_p.R424C|PLD3_ENST00000356508.5_Missense_Mutation_p.R424C|PLD3_ENST00000409735.4_Missense_Mutation_p.R424C			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	424	PLD phosphodiesterase 2. {ECO:0000255|PROSITE-ProRule:PRU00153}.				cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GGTGACTGAACGCGCCACCTA	0.612																																																	0													78.0	61.0	67.0					19																	40883777		2203	4300	6503	SO:0001583	missense	0			BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.1270C>T	19.37:g.40883777C>T	ENSP00000387050:p.Arg424Cys		Q92853|Q9BW87	Missense_Mutation	SNP	pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	p.R424C	ENST00000409587.1	37	c.1270	CCDS33027.1	19	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544245	0.65198	.	.	ENSG00000105223	ENST00000409419;ENST00000409587;ENST00000356508;ENST00000409735;ENST00000409281	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.32	4.22	0.49857	Phospholipase D/Transphosphatidylase (2);	0.107847	0.64402	D	0.000013	T	0.60689	0.2288	M	0.69358	2.11	0.54753	D	0.999989	D	0.76494	0.999	P	0.60286	0.872	T	0.63915	-0.6529	10	0.72032	D	0.01	-16.2681	11.8295	0.52285	0.2653:0.7347:0.0:0.0	.	424	Q8IV08	PLD3_HUMAN	C	424	ENSP00000386293:R424C;ENSP00000387050:R424C;ENSP00000348901:R424C;ENSP00000386938:R424C;ENSP00000387022:R424C	ENSP00000348901:R424C	R	+	1	0	PLD3	45575617	0.869000	0.29996	0.895000	0.35142	0.707000	0.40811	2.081000	0.41596	2.633000	0.89246	0.655000	0.94253	CGC	PLD3	-	smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	ENSG00000105223		0.612	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLD3	HGNC	protein_coding	OTTHUMT00000327721.1	-	0.00	40	0	C	NM_012268		40883777	+1	tier1	rs201893308	no_errors	ENST00000356508	ensembl	human	known	74_37	missense	34.62	17	9	SNP	0.977	T
PLEC	5339	genome.wustl.edu	37	8	144994400	144994400	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:144994400G>A	ENST00000322810.4	-	32	10169	c.10000C>T	c.(10000-10002)Cag>Tag	p.Q3334*	PLEC_ENST00000354958.2_Nonsense_Mutation_p.Q3175*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Q3224*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.Q3197*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Q3201*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Q3183*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Q3220*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Q3165*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Q3197*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3334	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGCACCGCTGCTGGAGCTCG	0.701																																																	0													7.0	9.0	8.0					8																	144994400		1911	4043	5954	SO:0001587	stop_gained	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10000C>T	8.37:g.144994400G>A	ENSP00000323856:p.Gln3334*		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.Q3334*	ENST00000322810.4	37	c.10000	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	50	16.417439	0.99863	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	3.8	1.71	0.24356	.	0.189853	0.32473	U	0.006060	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	9.9573	0.41675	0.0:0.0:0.385:0.615	.	.	.	.	X	3197;3201;3197;3165;3334;3175;3183;3224;3220	.	ENSP00000323856:Q3334X	Q	-	1	0	PLEC	145066388	1.000000	0.71417	0.301000	0.25044	0.461000	0.32589	3.054000	0.49908	0.881000	0.35993	0.393000	0.25936	CAG	PLEC	-	NULL	ENSG00000178209		0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1		0.00	14	0	G	NM_000445		144994400	-1			no_errors	ENST00000322810	ensembl	human	known	74_37	nonsense	23.08	10	3	SNP	0.798	A
PLEKHA1	59338	genome.wustl.edu	37	10	124152781	124152781	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:124152781G>A	ENST00000368990.3	+	2	196	c.65G>A	c.(64-66)aGt>aAt	p.S22N	PLEKHA1_ENST00000433307.1_Missense_Mutation_p.S22N|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000368988.1_Missense_Mutation_p.S22N|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.S22N|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.S22N	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	22	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AATGAAAACAGTGGGAAATTT	0.358																																																	0													97.0	100.0	99.0					10																	124152781		2203	4300	6503	SO:0001583	missense	0			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.65G>A	10.37:g.124152781G>A	ENSP00000357986:p.Ser22Asn		B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S22N	ENST00000368990.3	37	c.65	CCDS7629.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.362970	0.95877	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000392799;ENST00000433307	T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	6.08	6.08	0.98989	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.85461	0.5702	M	0.72894	2.215	0.80722	D	1	P;P	0.51537	0.525;0.946	P;D	0.65573	0.835;0.936	T	0.80743	-0.1246	10	0.27785	T	0.31	-22.3731	20.6721	0.99693	0.0:0.0:1.0:0.0	.	22;22	B3KQ55;Q9HB21	.;PKHA1_HUMAN	N	22	ENSP00000357986:S22N;ENSP00000357985:S22N;ENSP00000357984:S22N;ENSP00000438608:S22N;ENSP00000376547:S22N;ENSP00000394416:S22N	ENSP00000357984:S22N	S	+	2	0	PLEKHA1	124142771	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	2.894000	0.99253	0.591000	0.81541	AGT	PLEKHA1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000107679		0.358	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA1	HGNC	protein_coding	OTTHUMT00000050783.1	-	0.00	84	0	G	NM_001001974		124152781	+1	tier1	-	no_errors	ENST00000368990	ensembl	human	known	74_37	missense	51.95	37	40	SNP	1.000	A
PLEKHA4	57664	genome.wustl.edu	37	19	49341300	49341300	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:49341300G>A	ENST00000263265.6	-	19	2606	c.2051C>T	c.(2050-2052)gCg>gTg	p.A684V	HSD17B14_ENST00000599157.1_5'Flank|HSD17B14_ENST00000263278.4_5'Flank|PLEKHA4_ENST00000355496.5_3'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	684						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCACTGCGACGCCTCAGTAGC	0.567																																																	0													80.0	84.0	83.0					19																	49341300		2203	4300	6503	SO:0001583	missense	0			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.2051C>T	19.37:g.49341300G>A	ENSP00000263265:p.Ala684Val		Q8N4M8|Q8N658	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A684V	ENST00000263265.6	37	c.2051	CCDS12737.1	19	.	.	.	.	.	.	.	.	.	.	g	15.67	2.901299	0.52227	.	.	ENSG00000105559	ENST00000263265	T	0.25912	1.77	3.97	3.97	0.46021	.	0.434861	0.16906	N	0.194685	T	0.35393	0.0930	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.70716	0.97	T	0.11012	-1.0605	10	0.62326	D	0.03	.	11.8631	0.52478	0.0:0.0:1.0:0.0	.	684	Q9H4M7	PKHA4_HUMAN	V	684	ENSP00000263265:A684V	ENSP00000263265:A684V	A	-	2	0	PLEKHA4	54033112	0.998000	0.40836	0.955000	0.39395	0.594000	0.36715	4.274000	0.58921	2.266000	0.75297	0.546000	0.68486	GCG	PLEKHA4	-	NULL	ENSG00000105559		0.567	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA4	HGNC	protein_coding	OTTHUMT00000466216.1	-	0.00	103	0	G			49341300	-1	tier1	-	no_errors	ENST00000263265	ensembl	human	known	74_37	missense	34.62	68	36	SNP	0.964	A
PLEKHA5	54477	genome.wustl.edu	37	12	19501363	19501363	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:19501363C>T	ENST00000299275.6	+	19	2437	c.2431C>T	c.(2431-2433)Cca>Tca	p.P811S	PLEKHA5_ENST00000429027.2_Missense_Mutation_p.P977S|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.P793S|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.P869S|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.P569S|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.P800S|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.P874S|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.P869S	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	811					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CAAGAGTGAACCAGAGTTAAC	0.343																																					Pancreas(196;329 2193 11246 14234 19524)												0													98.0	100.0	99.0					12																	19501363		2203	4300	6503	SO:0001583	missense	0			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2431C>T	12.37:g.19501363C>T	ENSP00000299275:p.Pro811Ser		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.P874S	ENST00000299275.6	37	c.2620	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714942	0.89112	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.09	5.09	0.68999	.	0.056069	0.64402	N	0.000001	T	0.73032	0.3535	M	0.73962	2.25	0.54753	D	0.999981	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	0.91635	0.998;0.999;0.999;0.996;0.998;0.999;0.999	T	0.72327	-0.4327	10	0.38643	T	0.18	-14.7126	18.8652	0.92289	0.0:1.0:0.0:0.0	.	874;793;800;972;977;811;869	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;PKHA5_HUMAN;.	S	874;869;973;977;811;569;869;800;793;766	ENSP00000325155:P874S;ENSP00000347560:P869S;ENSP00000404296:P977S;ENSP00000299275:P811S;ENSP00000440611:P569S;ENSP00000439673:P869S;ENSP00000400411:P800S;ENSP00000439837:P793S;ENSP00000440371:P766S	ENSP00000299275:P811S	P	+	1	0	PLEKHA5	19392630	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	6.461000	0.73522	2.489000	0.83994	0.563000	0.77884	CCA	PLEKHA5	-	NULL	ENSG00000052126		0.343	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	-	0.00	62	0	C	NM_019012		19501363	+1	tier1	-	no_errors	ENST00000317589	ensembl	human	known	74_37	missense	72.90	42	113	SNP	1.000	T
PLEKHA6	22874	genome.wustl.edu	37	1	204228411	204228411	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:204228411delC	ENST00000272203.3	-	8	1298	c.982delG	c.(982-984)gtafs	p.V328fs	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.V348fs	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	328	Pro-rich.							p.V328fs*172(2)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGGGGGTACCCCCCGGCGC	0.622																																																	2	Deletion - Frameshift(2)	large_intestine(2)											43.0	47.0	46.0					1																	204228411		2203	4300	6503	SO:0001589	frameshift_variant	0			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.982delG	1.37:g.204228411delC	ENSP00000272203:p.Val328fs		A7MD51|Q5VTI6	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V328fs	ENST00000272203.3	37	c.982	CCDS1444.1	1																																																																																			PLEKHA6	-	NULL	ENSG00000143850		0.622	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3		0.00	38	0	C	NM_014935		204228411	-1	tier1		no_errors	ENST00000272203	ensembl	human	known	74_37	frame_shift_del	27.78	26	10	DEL	0.000	-
PLEKHA6	22874	genome.wustl.edu	37	1	204228416	204228416	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:204228416C>G	ENST00000272203.3	-	8	1293	c.977G>C	c.(976-978)cGg>cCg	p.R326P	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R346P	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	326	Pro-rich.							p.V328fs*172(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGGTACCCCCCGGCGCAGATT	0.627																																																	1	Deletion - Frameshift(1)	prostate(1)											45.0	49.0	48.0					1																	204228416		2203	4300	6503	SO:0001583	missense	0			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.977G>C	1.37:g.204228416C>G	ENSP00000272203:p.Arg326Pro		A7MD51|Q5VTI6	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R326P	ENST00000272203.3	37	c.977	CCDS1444.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800472	0.90538	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.16324	2.35;2.78	5.45	5.45	0.79879	.	0.060278	0.64402	D	0.000003	T	0.42040	0.1185	M	0.64997	1.995	0.58432	D	0.999999	D	0.76494	0.999	D	0.75484	0.986	T	0.21008	-1.0258	10	0.72032	D	0.01	-22.4395	18.8805	0.92354	0.0:1.0:0.0:0.0	.	326	Q9Y2H5	PKHA6_HUMAN	P	326;346	ENSP00000272203:R326P;ENSP00000402046:R346P	ENSP00000272203:R326P	R	-	2	0	PLEKHA6	202495039	1.000000	0.71417	0.944000	0.38274	0.982000	0.71751	6.745000	0.74860	2.560000	0.86352	0.561000	0.74099	CGG	PLEKHA6	-	NULL	ENSG00000143850		0.627	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA6	HGNC	protein_coding	OTTHUMT00000087889.3		0.00	37	0	C	NM_014935		204228416	-1			no_errors	ENST00000272203	ensembl	human	known	74_37	missense	7.69	36	3	SNP	1.000	G
PLEKHG3	26030	genome.wustl.edu	37	14	65194674	65194674	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:65194674G>A	ENST00000394691.1	+	2	472	c.325G>A	c.(325-327)Gta>Ata	p.V109I	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.V109I			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	109	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCGCATGTACGTACAGGACCT	0.622																																																	0													50.0	49.0	49.0					14																	65194674		2203	4300	6503	SO:0001583	missense	0			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.325G>A	14.37:g.65194674G>A	ENSP00000378183:p.Val109Ile		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V109I	ENST00000394691.1	37	c.325		14	.	.	.	.	.	.	.	.	.	.	G	30	5.054672	0.93793	.	.	ENSG00000126822	ENST00000555982;ENST00000247226;ENST00000394691;ENST00000554499	T;T;T;T	0.72167	-0.46;-0.63;-0.46;-0.46	5.18	5.18	0.71444	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000001	T	0.74298	0.3698	N	0.17082	0.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.99	T	0.77608	-0.2524	10	0.51188	T	0.08	.	17.4602	0.87618	0.0:0.0:1.0:0.0	.	109;109	A1L390;A1L390-3	PKHG3_HUMAN;.	I	109	ENSP00000450501:V109I;ENSP00000247226:V109I;ENSP00000378183:V109I;ENSP00000451256:V109I	ENSP00000247226:V109I	V	+	1	0	PLEKHG3	64264427	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	9.542000	0.98086	2.405000	0.81733	0.462000	0.41574	GTA	PLEKHG3	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000126822		0.622	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	-	0.00	52	0	G	NM_015549		65194674	+1	tier1	-	no_errors	ENST00000394691	ensembl	human	known	74_37	missense	43.75	18	14	SNP	1.000	A
PLEKHM2	23207	genome.wustl.edu	37	1	16053915	16053915	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:16053915C>T	ENST00000375799.3	+	9	1575	c.1348C>T	c.(1348-1350)Ccg>Tcg	p.P450S	RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.P430S	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	450					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GGAGAGGCCGCCGCTTTGCGA	0.637																																																	0													9.0	10.0	10.0					1																	16053915		1843	4080	5923	SO:0001583	missense	0			AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.1348C>T	1.37:g.16053915C>T	ENSP00000364956:p.Pro450Ser		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.P450S	ENST00000375799.3	37	c.1348	CCDS44063.1	1	.	.	.	.	.	.	.	.	.	.	C	3.812	-0.039449	0.07497	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.48201	0.88;0.82	5.43	3.52	0.40303	.	0.186107	0.47093	N	0.000242	T	0.26955	0.0660	N	0.17082	0.46	0.09310	N	1	B	0.25850	0.136	B	0.18871	0.023	T	0.13072	-1.0523	10	0.41790	T	0.15	-1.3753	6.2651	0.20922	0.0:0.6483:0.1512:0.2004	.	450	Q8IWE5	PKHM2_HUMAN	S	450;430	ENSP00000364956:P450S;ENSP00000364950:P430S	ENSP00000364950:P430S	P	+	1	0	PLEKHM2	15926502	0.215000	0.23574	0.049000	0.19019	0.114000	0.19823	2.308000	0.43690	0.628000	0.30357	-0.140000	0.14226	CCG	PLEKHM2	-	NULL	ENSG00000116786		0.637	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	HGNC	protein_coding	OTTHUMT00000008463.1	-	0.00	31	0	C	NM_015164		16053915	+1	tier1	-	no_errors	ENST00000375799	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.000	T
PLIN4	729359	genome.wustl.edu	37	19	4511502	4511502	+	Missense_Mutation	SNP	C	C	T	rs113169027	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4511502C>T	ENST00000301286.3	-	3	2427	c.2428G>A	c.(2428-2430)Gtg>Atg	p.V810M		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	810	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCGGTCAGCACGGTCTTGGCC	0.587													c|||	241	0.048123	0.1702	0.0231	5008	,	,		26010	0.0		0.0	False		,,,				2504	0.0																0								T	MET/VAL	428,3756		1,426,1665	104.0	137.0	126.0		2428	1.1	0.0	19	dbSNP_132	126	5,8435		0,5,4215	yes	missense	PLIN4	NM_001080400.1	21	1,431,5880	TT,TC,CC		0.0592,10.2294,3.43	probably-damaging	810/1358	4511502	433,12191	2092	4220	6312	SO:0001583	missense	0			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2428G>A	19.37:g.4511502C>T	ENSP00000301286:p.Val810Met		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.V810M	ENST00000301286.3	37	c.2428	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	c	11.15	1.553381	0.27739	0.102294	5.92E-4	ENSG00000167676	ENST00000301286	T	0.07688	3.17	4.46	1.09	0.20402	.	0.184855	0.25622	N	0.029408	T	0.00300	0.0009	M	0.87758	2.905	0.09310	N	1	B	0.34015	0.435	B	0.28011	0.085	T	0.20042	-1.0287	10	0.31617	T	0.26	-15.7221	6.7886	0.23687	0.0:0.6912:0.0:0.3088	.	810	Q96Q06	PLIN4_HUMAN	M	810	ENSP00000301286:V810M	ENSP00000301286:V810M	V	-	1	0	PLIN4	4462502	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.079000	0.14782	0.033000	0.15463	-0.355000	0.07637	GTG	PLIN4	-	NULL	ENSG00000167676		0.587	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	-	0.00	262	0	C	XM_170901		4511502	-1	tier1	rs113169027	no_errors	ENST00000301286	ensembl	human	novel	74_37	missense	25.13	148	50	SNP	0.006	T
PLOD1	5351	genome.wustl.edu	37	1	12012719	12012719	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:12012719C>T	ENST00000196061.4	+	5	533	c.506C>T	c.(505-507)gCc>gTc	p.A169V	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.A216V	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	169					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	AAACTGGTGGCCGAGTGGGAG	0.592																																																	0													105.0	94.0	97.0					1																	12012719		2203	4300	6503	SO:0001583	missense	0			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.506C>T	1.37:g.12012719C>T	ENSP00000196061:p.Ala169Val		B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.A216V	ENST00000196061.4	37	c.647	CCDS142.1	1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916567	0.73098	.	.	ENSG00000083444	ENST00000449038;ENST00000358133;ENST00000376369;ENST00000429000;ENST00000196061	T;T;T;T	0.22134	2.45;1.97;1.97;1.97	4.61	3.67	0.42095	.	0.182670	0.46758	D	0.000261	T	0.27349	0.0671	L	0.59436	1.845	0.39613	D	0.969905	D;B	0.53151	0.958;0.266	P;B	0.49999	0.628;0.125	T	0.04053	-1.0981	10	0.38643	T	0.18	.	9.2637	0.37627	0.1738:0.6784:0.1478:0.0	.	216;169	B4DR87;Q02809	.;PLOD1_HUMAN	V	216;169;216;169;169	ENSP00000414443:A216V;ENSP00000365548:A216V;ENSP00000405372:A169V;ENSP00000196061:A169V	ENSP00000196061:A169V	A	+	2	0	PLOD1	11935306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.736000	0.55052	1.110000	0.41699	0.555000	0.69702	GCC	PLOD1	-	NULL	ENSG00000083444		0.592	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD1	HGNC	protein_coding	OTTHUMT00000006865.1	-	0.00	92	0	C	NM_000302		12012719	+1	tier1	-	no_errors	ENST00000376369	ensembl	human	known	74_37	missense	38.89	44	28	SNP	1.000	T
PLOD2	5352	genome.wustl.edu	37	3	145788602	145788602	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:145788602A>C	ENST00000360060.3	-	19	2293	c.2116T>G	c.(2116-2118)Tgg>Ggg	p.W706G	RP11-274H2.2_ENST00000480247.1_RNA|RP11-274H2.2_ENST00000494745.2_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.W672G|PLOD2_ENST00000282903.5_Missense_Mutation_p.W727G|RP11-274H2.3_ENST00000490375.1_RNA|PLOD2_ENST00000461497.1_Missense_Mutation_p.W387G	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	706	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	ATGAAGCTCCAGCCTTTTCGT	0.368																																																	0													62.0	60.0	61.0					3																	145788602		2202	4299	6501	SO:0001583	missense	0			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.2116T>G	3.37:g.145788602A>C	ENSP00000353170:p.Trp706Gly		B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.W727G	ENST00000360060.3	37	c.2179	CCDS3131.1	3	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985390	0.74474	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.51	5.51	0.81932	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.83408	0.5248	L	0.53671	1.685	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.996;0.999;0.999;0.995	D	0.84781	0.0773	10	0.62326	D	0.03	-32.3888	15.6107	0.76713	1.0:0.0:0.0:0.0	.	672;706;727;387	E7ETU9;O00469;O00469-2;B3KWS3	.;PLOD2_HUMAN;.;.	G	387;727;706;672	ENSP00000419354:W387G;ENSP00000282903:W727G;ENSP00000353170:W706G;ENSP00000420094:W672G	ENSP00000282903:W727G	W	-	1	0	PLOD2	147271292	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.953000	0.93041	2.083000	0.62718	0.477000	0.44152	TGG	PLOD2	-	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	ENSG00000152952		0.368	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD2	HGNC	protein_coding	OTTHUMT00000355185.1	-	0.00	14	0	A	NM_000935		145788602	-1	tier1	-	no_errors	ENST00000282903	ensembl	human	known	74_37	missense	40.00	15	10	SNP	1.000	C
PLVAP	83483	genome.wustl.edu	37	19	17487856	17487856	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:17487856T>C	ENST00000252590.4	-	1	303	c.242A>G	c.(241-243)cAg>cGg	p.Q81R		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	81					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAAGTTGGACTGGGAGGCCGT	0.617																																																	0													122.0	104.0	110.0					19																	17487856		2203	4300	6503	SO:0001583	missense	0			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.242A>G	19.37:g.17487856T>C	ENSP00000252590:p.Gln81Arg		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	pfam_PV-1	p.Q81R	ENST00000252590.4	37	c.242	CCDS32952.1	19	.	.	.	.	.	.	.	.	.	.	T	9.267	1.044695	0.19748	.	.	ENSG00000130300	ENST00000252590	T	0.31769	1.48	4.52	-0.194	0.13240	.	1.106340	0.06795	N	0.787633	T	0.19765	0.0475	L	0.32530	0.975	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.29852	-0.9998	10	0.18710	T	0.47	-13.4611	4.0696	0.09876	0.0:0.2978:0.1792:0.523	.	81	Q9BX97	PLVAP_HUMAN	R	81	ENSP00000252590:Q81R	ENSP00000252590:Q81R	Q	-	2	0	PLVAP	17348856	0.002000	0.14202	0.000000	0.03702	0.035000	0.12851	0.696000	0.25541	-0.335000	0.08451	0.260000	0.18958	CAG	PLVAP	-	pfam_PV-1	ENSG00000130300		0.617	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLVAP	HGNC	protein_coding	OTTHUMT00000463655.1	-	0.00	63	0	T	NM_031310		17487856	-1	tier1	-	no_errors	ENST00000252590	ensembl	human	known	74_37	missense	44.00	42	33	SNP	0.000	C
PLXNA2	5362	genome.wustl.edu	37	1	208315787	208315787	+	Frame_Shift_Del	DEL	G	G	-	rs200374067	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:208315787delG	ENST00000367033.3	-	4	2150	c.1393delC	c.(1393-1395)catfs	p.H465fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	465	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.H465fs*57(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACCCCACCATGGGGGGGACCG	0.592																																																	1	Deletion - Frameshift(1)	large_intestine(1)											98.0	99.0	99.0					1																	208315787		2203	4300	6503	SO:0001589	frameshift_variant	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.1393delC	1.37:g.208315787delG	ENSP00000356000:p.His465fs		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Frame_Shift_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.H465fs	ENST00000367033.3	37	c.1393	CCDS31013.1	1																																																																																			PLXNA2	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000076356		0.592	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6		0.00	63	0	G	NM_025179		208315787	-1	tier1		no_errors	ENST00000367033	ensembl	human	known	74_37	frame_shift_del	22.08	60	17	DEL	1.000	-
PLXNB1	5364	genome.wustl.edu	37	3	48454262	48454262	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:48454262G>A	ENST00000358536.4	-	25	5012	c.4743C>T	c.(4741-4743)cgC>cgT	p.R1581R	PLXNB1_ENST00000448774.2_Silent_p.R192R|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000456774.1_Silent_p.R1398R|PLXNB1_ENST00000296440.6_Silent_p.R1581R|PLXNB1_ENST00000358459.4_Silent_p.R1398R	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1581					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGGCGACTCGCGGTGCCCAG	0.617																																																	0													58.0	59.0	58.0					3																	48454262		2203	4300	6503	SO:0001819	synonymous_variant	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4743C>T	3.37:g.48454262G>A			A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R1581	ENST00000358536.4	37	c.4743	CCDS2765.1	3																																																																																			PLXNB1	-	pfam_Plexin_cytoplasmic_RasGAP_dom	ENSG00000164050		0.617	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	-	0.00	40	0	G	NM_002673		48454262	-1	tier1	-	no_errors	ENST00000296440	ensembl	human	known	74_37	silent	32.00	34	16	SNP	0.988	A
PLXNB1	5364	genome.wustl.edu	37	3	48465485	48465485	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:48465485delC	ENST00000358536.4	-	3	805	c.536delG	c.(535-537)ggtfs	p.G180fs	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Frame_Shift_Del_p.G180fs|PLXNB1_ENST00000296440.6_Frame_Shift_Del_p.G180fs|PLXNB1_ENST00000358459.4_Frame_Shift_Del_p.G180fs	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	180	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGAATGCCACCCCCCACACC	0.672																																																	0													10.0	13.0	12.0					3																	48465485		2187	4263	6450	SO:0001589	frameshift_variant	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.536delG	3.37:g.48465485delC	ENSP00000351338:p.Gly180fs		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Frame_Shift_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G179fs	ENST00000358536.4	37	c.536	CCDS2765.1	3																																																																																			PLXNB1	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000164050		0.672	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1		0.00	25	0	C	NM_002673		48465485	-1	tier1		no_errors	ENST00000296440	ensembl	human	known	74_37	frame_shift_del	36.36	7	4	DEL	1.000	-
PLXNB2	23654	genome.wustl.edu	37	22	50721802	50721803	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:50721802_50721803delCA	ENST00000449103.1	-	16	2782_2783	c.2642_2643delTG	c.(2641-2643)ctgfs	p.L881fs	PLXNB2_ENST00000359337.4_Frame_Shift_Del_p.L881fs|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	881	IPT/TIG 1.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCGAACGGCCCAGTTTCCCGAA	0.678																																																	0																																										SO:0001589	frameshift_variant	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.2642_2643delTG	22.37:g.50721802_50721803delCA	ENSP00000409171:p.Leu881fs		A6QRH0|Q7KZU3|Q9BSU7	Frame_Shift_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L881fs	ENST00000449103.1	37	c.2643_2642	CCDS43035.1	22																																																																																			PLXNB2	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000196576		0.678	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3		0.00	64	0	CA	NM_012401		50721803	-1	tier1		no_errors	ENST00000359337	ensembl	human	known	74_37	frame_shift_del	47.83	24	22	DEL	0.009:0.280	-
PLXNB2	23654	genome.wustl.edu	37	22	50728029	50728029	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:50728029C>T	ENST00000449103.1	-	3	1125	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	PLXNB2_ENST00000359337.4_Missense_Mutation_p.A329T			O15031	PLXB2_HUMAN	plexin B2	329	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGTAACAGGCGTTGCGGTTG	0.662																																																	0													37.0	47.0	44.0					22																	50728029		1983	4160	6143	SO:0001583	missense	0				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.985G>A	22.37:g.50728029C>T	ENSP00000409171:p.Ala329Thr		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.A329T	ENST00000449103.1	37	c.985	CCDS43035.1	22	.	.	.	.	.	.	.	.	.	.	C	0.466	-0.886643	0.02511	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000414275;ENST00000432455	T;T;T	0.10382	2.88;2.88;2.88	4.75	-1.64	0.08318	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.988232	0.08234	N	0.977055	T	0.07188	0.0182	L	0.35542	1.07	0.09310	N	1	B	0.19200	0.034	B	0.18561	0.022	T	0.45906	-0.9229	10	0.14252	T	0.57	.	6.5096	0.22214	0.1199:0.5198:0.0:0.3602	.	329	O15031	PLXB2_HUMAN	T	329	ENSP00000409171:A329T;ENSP00000352288:A329T;ENSP00000392620:A329T	ENSP00000352288:A329T	A	-	1	0	PLXNB2	49070156	0.000000	0.05858	0.075000	0.20258	0.265000	0.26407	0.275000	0.18698	-0.055000	0.13244	-0.254000	0.11334	GCC	PLXNB2	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000196576		0.662	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	HGNC	protein_coding	OTTHUMT00000316874.3	-	0.00	75	0	C	NM_012401		50728029	-1	tier1	-	no_errors	ENST00000359337	ensembl	human	known	74_37	missense	30.16	44	19	SNP	0.000	T
PLXNB3	5365	genome.wustl.edu	37	X	153035373	153035373	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:153035373delC	ENST00000361971.5	+	7	1722	c.1608delC	c.(1606-1608)cacfs	p.H536fs	PLXNB3_ENST00000538966.1_Frame_Shift_Del_p.H559fs|PLXNB3_ENST00000538776.1_Frame_Shift_Del_p.H189fs|PLXNB3_ENST00000538543.1_Frame_Shift_Del_p.H86fs|PLXNB3_ENST00000538282.1_Frame_Shift_Del_p.H146fs	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	536					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGGCCACCACCCCCGCCAGG	0.692																																																	0													18.0	19.0	19.0					X																	153035373		2190	4286	6476	SO:0001589	frameshift_variant	0			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1608delC	X.37:g.153035373delC	ENSP00000355378:p.His536fs		B7Z3E6|F5H773|Q9HDA4	Frame_Shift_Del	DEL	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R561fs	ENST00000361971.5	37	c.1677	CCDS14729.1	X																																																																																			PLXNB3	-	NULL	ENSG00000198753		0.692	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	HGNC	protein_coding	OTTHUMT00000061063.1		0.00	23	0	C			153035373	+1	tier1		no_errors	ENST00000538966	ensembl	human	known	74_37	frame_shift_del	83.33	3	15	DEL	0.991	-
PLXNC1	10154	genome.wustl.edu	37	12	94653484	94653484	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:94653484G>T	ENST00000258526.4	+	19	3474	c.3225G>T	c.(3223-3225)aaG>aaT	p.K1075N	PLXNC1_ENST00000547057.1_Missense_Mutation_p.K122N|PLXNC1_ENST00000551495.1_3'UTR|PLXNC1_ENST00000545312.1_5'Flank	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1075					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCCTTGAAAAGCAGAAGAACT	0.413																																																	0													99.0	101.0	100.0					12																	94653484		2203	4300	6503	SO:0001583	missense	0			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3225G>T	12.37:g.94653484G>T	ENSP00000258526:p.Lys1075Asn		Q59H25	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.K1075N	ENST00000258526.4	37	c.3225	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431947	0.25813	.	.	ENSG00000136040	ENST00000258526;ENST00000547057	T;T	0.11821	2.74;2.74	6.03	-0.00821	0.14006	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.129498	0.64402	D	0.000001	T	0.12646	0.0307	N	0.05383	-0.06	0.80722	D	1	P;D	0.63880	0.801;0.993	P;D	0.67725	0.504;0.953	T	0.15009	-1.0452	10	0.42905	T	0.14	.	6.4864	0.22091	0.4362:0.0:0.4528:0.111	.	122;1075	B4DHQ7;O60486	.;PLXC1_HUMAN	N	1075;122	ENSP00000258526:K1075N;ENSP00000446720:K122N	ENSP00000258526:K1075N	K	+	3	2	PLXNC1	93177615	0.997000	0.39634	0.997000	0.53966	0.991000	0.79684	0.404000	0.20999	-0.042000	0.13535	-0.136000	0.14681	AAG	PLXNC1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000136040		0.413	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	-	0.00	39	0	G			94653484	+1	tier1	-	no_errors	ENST00000258526	ensembl	human	known	74_37	missense	7.14	51	4	SNP	0.996	T
PNISR	25957	genome.wustl.edu	37	6	99858807	99858807	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:99858807delG	ENST00000369239.5	-	5	515	c.311delC	c.(310-312)cctfs	p.P105fs	PNISR_ENST00000438806.1_Frame_Shift_Del_p.P105fs|PNISR_ENST00000466057.1_5'Flank	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	105	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTGATCTGGAGGGGGGTGTGG	0.468																																																	0																																										SO:0001589	frameshift_variant	0			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.311delC	6.37:g.99858807delG	ENSP00000358242:p.Pro105fs		A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Frame_Shift_Del	DEL	NULL	p.P104fs	ENST00000369239.5	37	c.311	CCDS5043.1	6																																																																																			PNISR	-	NULL	ENSG00000132424		0.468	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1		0.00	72	0	G	NM_032870		99858807	-1	tier1		no_errors	ENST00000369239	ensembl	human	known	74_37	frame_shift_del	35.71	63	35	DEL	1.000	-
PNISR	25957	genome.wustl.edu	37	6	99860163	99860163	+	Intron	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:99860163A>T	ENST00000369239.5	-	4	482				PNISR_ENST00000438806.1_Intron|PNISR_ENST00000466057.1_5'UTR	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein							cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						ATGCCAAGTGAGGTTTCCAGA	0.453																																																	0																																										SO:0001627	intron_variant	0			AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.277+263T>A	6.37:g.99860163A>T			A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	RNA	SNP	-	NULL	ENST00000369239.5	37	NULL	CCDS5043.1	6																																																																																			PNISR	-	-	ENSG00000132424		0.453	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PNISR	HGNC	protein_coding	OTTHUMT00000041598.1	-	0.00	43	0	A	NM_032870		99860163	-1	tier1	-	no_errors	ENST00000466057	ensembl	human	known	74_37	rna	39.13	14	9	SNP	1.000	T
PNPLA5	150379	genome.wustl.edu	37	22	44286964	44286964	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:44286964G>T	ENST00000597664.1	-	2	533	c.404C>A	c.(403-405)gCc>gAc	p.A135D	PNPLA5_ENST00000593866.1_Intron|PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000216177.4_Missense_Mutation_p.A135D			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	135	Patatin.				lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				ATCGCAGGTGGCGAAGTCAGT	0.667																																																	0													33.0	30.0	31.0					22																	44286964		2201	4299	6500	SO:0001583	missense	0			Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.404C>A	22.37:g.44286964G>T	ENSP00000471069:p.Ala135Asp		B1AHL8|B3KPR1|Q6ZST0	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.A135D	ENST00000597664.1	37	c.404		22	.	.	.	.	.	.	.	.	.	.	G	4.537	0.099686	0.08681	.	.	ENSG00000100341	ENST00000216177;ENST00000438734	T;T	0.74737	-0.87;-0.87	4.92	3.87	0.44632	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.272226	0.30800	N	0.008860	T	0.50582	0.1624	N	0.12831	0.26	0.19575	N	0.999969	B	0.27286	0.174	B	0.24394	0.053	T	0.32534	-0.9903	10	0.07175	T	0.84	-35.8253	10.5531	0.45101	0.0:0.0:0.649:0.351	.	135	Q7Z6Z6	PLPL5_HUMAN	D	135	ENSP00000216177:A135D;ENSP00000405732:A135D	ENSP00000216177:A135D	A	-	2	0	PNPLA5	42618297	0.376000	0.25098	0.015000	0.15790	0.005000	0.04900	0.493000	0.22451	1.172000	0.42781	0.561000	0.74099	GCC	PNPLA5	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	ENSG00000100341		0.667	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	PNPLA5	HGNC	protein_coding	OTTHUMT00000075667.4	-	0.00	97	0	G	NM_138814		44286964	-1	tier1	-	no_errors	ENST00000216177	ensembl	human	known	74_37	missense	6.15	61	4	SNP	0.057	T
PNPLA7	375775	genome.wustl.edu	37	9	140356679	140356679	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:140356679delG	ENST00000277531.4	-	30	3708	c.3522delC	c.(3520-3522)cccfs	p.P1174fs	NSMF_ENST00000371475.3_5'Flank|NSMF_ENST00000437259.1_5'Flank|PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000265663.7_5'Flank|NSMF_ENST00000371473.3_5'Flank|NSMF_ENST00000371472.2_5'Flank|NSMF_ENST00000392812.4_5'Flank|PNPLA7_ENST00000406427.1_Frame_Shift_Del_p.P1199fs|PNPLA7_ENST00000371457.1_Frame_Shift_Del_p.P780fs|NSMF_ENST00000371474.3_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1174					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGCTGTCGATGGGGGGGCGCA	0.652																																																	0													46.0	43.0	44.0					9																	140356679		2203	4298	6501	SO:0001589	frameshift_variant	0			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3522delC	9.37:g.140356679delG	ENSP00000277531:p.Pro1174fs		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Frame_Shift_Del	DEL	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.I1200fs	ENST00000277531.4	37	c.3597	CCDS7045.1	9																																																																																			PNPLA7	-	superfamily_Acyl_Trfase/lysoPLipase	ENSG00000130653		0.652	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	HGNC	protein_coding	OTTHUMT00000254787.1		0.00	85	0	G	NM_152286		140356679	-1	tier1		no_errors	ENST00000406427	ensembl	human	known	74_37	frame_shift_del	18.64	48	11	DEL	1.000	-
POC5	134359	genome.wustl.edu	37	5	74984889	74984889	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:74984889T>C	ENST00000428202.2	-	9	1266	c.1077A>G	c.(1075-1077)gtA>gtG	p.V359V	POC5_ENST00000514838.2_Silent_p.V331V|POC5_ENST00000446329.2_Silent_p.V334V|POC5_ENST00000380475.2_Silent_p.V242V|POC5_ENST00000510798.1_Silent_p.V242V	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	359					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTAATGCACATACACCCCTCA	0.328																																																	0													81.0	75.0	77.0					5																	74984889		1809	4068	5877	SO:0001819	synonymous_variant	0			AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1077A>G	5.37:g.74984889T>C			B4DJG7|Q494X7|Q494X9|Q6P085	Silent	SNP	NULL	p.V359	ENST00000428202.2	37	c.1077	CCDS47236.1	5																																																																																			POC5	-	NULL	ENSG00000152359		0.328	POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC5	HGNC	protein_coding	OTTHUMT00000369124.1	-	0.00	41	0	T	NM_152408		74984889	-1	tier1	-	no_errors	ENST00000428202	ensembl	human	known	74_37	silent	48.28	30	28	SNP	0.024	C
POGLUT1	56983	genome.wustl.edu	37	3	119204182	119204182	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:119204182G>A	ENST00000295588.4	+	6	670	c.586G>A	c.(586-588)Gca>Aca	p.A196T		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	196					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TAGGTCAGCAGCACAGTGGCC	0.313																																																	0													89.0	98.0	95.0					3																	119204182		2203	4300	6503	SO:0001583	missense	0			BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.586G>A	3.37:g.119204182G>A	ENSP00000295588:p.Ala196Thr		B2RD13|Q53GJ4|Q8N2T1	Missense_Mutation	SNP	pfam_LipoPS_modifying,smart_LipoPS_modifying	p.A196T	ENST00000295588.4	37	c.586	CCDS2988.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.74|13.74	2.326148|2.326148	0.41197|0.41197	.|.	.|.	ENSG00000163389|ENSG00000163389	ENST00000295588|ENST00000476573	T|.	0.22134|.	1.97|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.190933|.	0.43919|.	D|.	0.000504|.	T|T	0.35711|0.35711	0.0941|0.0941	N|N	0.03999|0.03999	-0.3|-0.3	0.39196|0.39196	D|D	0.963051|0.963051	B|.	0.21452|.	0.056|.	B|.	0.23419|.	0.046|.	T|T	0.34004|0.34004	-0.9846|-0.9846	10|5	0.13108|.	T|.	0.6|.	-15.2928|-15.2928	14.8705|14.8705	0.70453|0.70453	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	196|.	Q8NBL1|.	PGLT1_HUMAN|.	T|N	196|182	ENSP00000295588:A196T|.	ENSP00000295588:A196T|.	A|S	+|+	1|2	0|0	POGLUT1|POGLUT1	120686872|120686872	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.424000|8.424000	0.90267|0.90267	2.634000|2.634000	0.89283|0.89283	0.655000|0.655000	0.94253|0.94253	GCA|AGC	POGLUT1	-	pfam_LipoPS_modifying,smart_LipoPS_modifying	ENSG00000163389		0.313	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POGLUT1	HGNC	protein_coding	OTTHUMT00000355034.2		0.00	74	0	G	NM_152305		119204182	+1			no_errors	ENST00000295588	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	A
POLD1	5424	genome.wustl.edu	37	19	50919866	50919866	+	Splice_Site	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:50919866delG	ENST00000440232.2	+	24	3006		c.e24-1		SPIB_ENST00000595883.1_5'Flank|CTD-2545M3.6_ENST00000599632.1_Splice_Site|SPIB_ENST00000439922.2_5'Flank|POLD1_ENST00000595904.1_Splice_Site|SPIB_ENST00000270632.7_5'Flank|SPIB_ENST00000596074.1_5'Flank|POLD1_ENST00000599857.1_Splice_Site|SPIB_ENST00000597855.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit						base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTCTCCTGCAGGGGGGGACCA	0.701								DNA polymerases (catalytic subunits)																																									0													7.0	10.0	9.0					19																	50919866		2163	4251	6414	SO:0001630	splice_region_variant	0				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2954-1G>-	19.37:g.50919866delG			Q8NER3|Q96H98	Splice_Site	DEL	-	e23-1	ENST00000440232.2	37	c.2954-1	CCDS12795.1	19																																																																																			POLD1	-	-	ENSG00000062822		0.701	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	HGNC	protein_coding	OTTHUMT00000464732.1		0.00	13	0	G		Intron	50919866	+1	tier1		no_errors	ENST00000440232	ensembl	human	known	74_37	splice_site_del	36.36	7	4	DEL	1.000	-
POLE	5426	genome.wustl.edu	37	12	133257836	133257836	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:133257836G>T	ENST00000320574.5	-	2	135	c.92C>A	c.(91-93)gCa>gAa	p.A31E	POLE_ENST00000535270.1_Missense_Mutation_p.A31E	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	31			A -> S (in dbSNP:rs34047482).		base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GCGCTTGAGTGCCGAAACTGA	0.502								DNA polymerases (catalytic subunits)																																									0													104.0	103.0	104.0					12																	133257836		2203	4300	6503	SO:0001583	missense	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.92C>A	12.37:g.133257836G>T	ENSP00000322570:p.Ala31Glu		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.A31E	ENST00000320574.5	37	c.92	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	g	14.93	2.682764	0.47991	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.03301	4.22;4.21;3.98	4.83	1.92	0.25849	.	0.178114	0.49305	D	0.000152	T	0.06325	0.0163	M	0.69248	2.105	0.52099	D	0.999948	P;B	0.45715	0.865;0.411	B;B	0.43623	0.425;0.111	T	0.27536	-1.0071	10	0.48119	T	0.1	.	9.5224	0.39143	0.2432:0.0:0.7568:0.0	.	31;31	F5H1D6;Q07864	.;DPOE1_HUMAN	E	31;42;31	ENSP00000322570:A31E;ENSP00000406383:A42E;ENSP00000445753:A31E	ENSP00000322570:A31E	A	-	2	0	POLE	131767909	1.000000	0.71417	0.028000	0.17463	0.026000	0.11368	5.232000	0.65332	0.173000	0.19788	-1.139000	0.01908	GCA	POLE	-	NULL	ENSG00000177084		0.502	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2		0.00	27	0	G	NM_006231		133257836	-1			no_errors	ENST00000320574	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.999	T
POLQ	10721	genome.wustl.edu	37	3	121208121	121208121	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:121208121G>T	ENST00000264233.5	-	16	3785	c.3657C>A	c.(3655-3657)ccC>ccA	p.P1219P		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1219					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTGCTTCACAGGGCATTTGTC	0.348								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													187.0	194.0	191.0					3																	121208121		2203	4300	6503	SO:0001819	synonymous_variant	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3657C>A	3.37:g.121208121G>T			O95160|Q6VMB5	Silent	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.P1219	ENST00000264233.5	37	c.3657	CCDS33833.1	3																																																																																			POLQ	-	NULL	ENSG00000051341		0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	-	0.00	64	0	G	NM_199420		121208121	-1	tier1	-	no_errors	ENST00000264233	ensembl	human	known	74_37	silent	40.32	37	25	SNP	0.244	T
POLR1A	25885	genome.wustl.edu	37	2	86302261	86302261	+	Silent	SNP	G	G	A	rs543626300		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:86302261G>A	ENST00000263857.6	-	12	1881	c.1503C>T	c.(1501-1503)gaC>gaT	p.D501D	POLR1A_ENST00000409681.1_Silent_p.D501D			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	501					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGCGGCTGCCGTCCTCATTGA	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17862	0.0		0.0	False		,,,				2504	0.0																0													34.0	37.0	36.0					2																	86302261		2033	4194	6227	SO:0001819	synonymous_variant	0			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1503C>T	2.37:g.86302261G>A			B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.D501	ENST00000263857.6	37	c.1503	CCDS42706.1	2																																																																																			POLR1A	-	pfam_RNA_pol_asu,smart_RNA_pol_N	ENSG00000068654		0.622	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	-	0.00	140	0	G	NM_015425		86302261	-1	tier1	-	no_errors	ENST00000263857	ensembl	human	known	74_37	silent	46.55	61	54	SNP	0.959	A
POLR1C	9533	genome.wustl.edu	37	6	43488038	43488038	+	Frame_Shift_Del	DEL	C	C	-	rs367732777		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:43488038delC	ENST00000372389.3	+	6	616	c.528delC	c.(526-528)atcfs	p.I176fs	POLR1C_ENST00000304004.3_Frame_Shift_Del_p.I176fs|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000372344.2_Frame_Shift_Del_p.I176fs	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	176					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TGACATGGATCCCCCTGGGGA	0.532																																																	0													149.0	151.0	151.0					6																	43488038		2203	4300	6503	SO:0001589	frameshift_variant	0			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.528delC	6.37:g.43488038delC	ENSP00000361465:p.Ile176fs		O75395|Q5JTE3	Frame_Shift_Del	DEL	pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.L178fs	ENST00000372389.3	37	c.528	CCDS4901.1	6																																																																																			POLR1C	-	pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	ENSG00000171453		0.532	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1C	HGNC	protein_coding	OTTHUMT00000040652.3		0.00	75	0	C	NM_004875		43488038	+1	tier1		no_errors	ENST00000372389	ensembl	human	known	74_37	frame_shift_del	27.08	35	13	DEL	0.327	-
POLR1C	9533	genome.wustl.edu	37	6	43488730	43488730	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:43488730G>T	ENST00000372389.3	+	8	954	c.866G>T	c.(865-867)cGg>cTg	p.R289L	POLR1C_ENST00000304004.3_Missense_Mutation_p.R289L|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000372344.2_Missense_Mutation_p.R239L	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	289					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GAAATCTTCCGGAATGAGAAG	0.453																																																	0													108.0	114.0	112.0					6																	43488730		2203	4300	6503	SO:0001583	missense	0			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.866G>T	6.37:g.43488730G>T	ENSP00000361465:p.Arg289Leu		O75395|Q5JTE3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.R289L	ENST00000372389.3	37	c.866	CCDS4901.1	6	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359130	0.82353	.	.	ENSG00000171453	ENST00000372389;ENST00000372373;ENST00000372344;ENST00000304004	D;D;D	0.83419	-1.72;-1.72;-1.72	4.89	4.89	0.63831	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.000000	0.85682	D	0.000000	D	0.91710	0.7379	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.994;0.997	D	0.93347	0.6715	10	0.87932	D	0	-15.4139	18.109	0.89529	0.0:0.0:1.0:0.0	.	289;289	O15160-2;O15160	.;RPAC1_HUMAN	L	289;153;239;289	ENSP00000361465:R289L;ENSP00000361419:R239L;ENSP00000307212:R289L	ENSP00000307212:R289L	R	+	2	0	POLR1C	43596708	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.928000	0.87587	2.262000	0.75019	0.454000	0.30748	CGG	POLR1C	-	pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	ENSG00000171453		0.453	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1C	HGNC	protein_coding	OTTHUMT00000040652.3	-	0.00	63	0	G	NM_004875		43488730	+1	tier1	-	no_errors	ENST00000372389	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T
POLR2K	5440	genome.wustl.edu	37	8	101164033	101164033	+	Intron	DEL	T	T	-	rs200886893|rs527681074		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:101164033delT	ENST00000353107.3	+	3	196				POLR2K_ENST00000522439.1_Intron|POLR2K_ENST00000519765.1_3'UTR	NM_005034.3	NP_005025.1	P53803	RPAB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa						7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|RNA splicing (GO:0008380)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|prostate(1)	3	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.59e-09)|all cancers(13;1.74e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ATTGAGTAAATTTTTTTTTTT	0.289																																																	0										32,96,4130		0,0,32,6,84,2007	31.0	33.0	32.0			-0.3	0.0	8		33	44,146,8034		0,1,43,6,133,3929	no	intron	POLR2K	NM_005034.3		0,1,75,12,217,5936	A1A1,A1A2,A1R,A2A2,A2R,RR		2.3103,3.0061,2.5477			101164033	76,242,12164	2201	4289	6490	SO:0001627	intron_variant	0				CCDS6285.1	8q22	2013-01-21	2002-08-29		ENSG00000147669	ENSG00000147669		"""RNA polymerase subunits"""	9198	protein-coding gene	gene with protein product		606033	"""polymerase (RNA) II (DNA directed) polypeptide K (7.0kD)"""				Standard	NM_005034		Approved	RPB10alpha	uc003yjf.3	P53803	OTTHUMG00000164705	ENST00000353107.3:c.62-19T>-	8.37:g.101164033delT			Q6IBD4	RNA	DEL	-	NULL	ENST00000353107.3	37	NULL	CCDS6285.1	8																																																																																			POLR2K	-	-	ENSG00000147669		0.289	POLR2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2K	HGNC	protein_coding	OTTHUMT00000379849.1		0.00	29	0	T	NM_005034		101164033	+1	tier1		no_errors	ENST00000519765	ensembl	human	known	74_37	rna	58.70	19	27	DEL	0.004	-
POLR2M	81488	genome.wustl.edu	37	15	58001499	58001499	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:58001499T>C	ENST00000299638.3	+	2	915	c.701T>C	c.(700-702)gTg>gCg	p.V234A	GCOM1_ENST00000380569.2_Intron|POLR2M_ENST00000464308.1_3'UTR|GCOM1_ENST00000380568.3_Intron|POLR2M_ENST00000380557.4_Missense_Mutation_p.V77A|POLR2M_ENST00000380563.2_Missense_Mutation_p.V234A|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000587652.1_Missense_Mutation_p.V631A	NM_015532.3	NP_056347.1	P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	234					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										TACATGGAAGTGCTAGAAATG	0.453																																																	0													59.0	60.0	60.0					15																	58001499		2192	4292	6484	SO:0001583	missense	0			AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"""RNA polymerase subunits"""	14862	protein-coding gene	gene with protein product		606485	"""glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"""	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000299638.3:c.701T>C	15.37:g.58001499T>C	ENSP00000299638:p.Val234Ala		Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Missense_Mutation	SNP	NULL	p.V234A	ENST00000299638.3	37	c.701	CCDS32252.1	15	.	.	.	.	.	.	.	.	.	.	T	24.2	4.506843	0.85282	.	.	ENSG00000255529	ENST00000380563;ENST00000299638;ENST00000380557	T;T;T	0.31769	1.48;1.48;1.48	5.21	5.21	0.72293	.	.	.	.	.	T	0.55162	0.1903	.	.	.	0.37246	D	0.906362	D;D	0.89917	0.998;1.0	D;D	0.85130	0.99;0.997	T	0.62973	-0.6740	8	0.49607	T	0.09	.	14.2022	0.65712	0.0:0.0:0.0:1.0	.	77;234	P0CAP2-2;P0CAP2	.;GRL1A_HUMAN	A	234;234;77	ENSP00000369937:V234A;ENSP00000299638:V234A;ENSP00000369930:V77A	ENSP00000299638:V234A	V	+	2	0	GRINL1A	55788791	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.834000	0.55798	2.187000	0.69744	0.383000	0.25322	GTG	POLR2M	-	NULL	ENSG00000255529		0.453	POLR2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2M	HGNC	protein_coding	OTTHUMT00000255719.2	-	0.00	35	0	T			58001499	+1	tier1	-	no_errors	ENST00000299638	ensembl	human	known	74_37	missense	35.56	29	16	SNP	1.000	C
POLR3B	55703	genome.wustl.edu	37	12	106826212	106826213	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:106826212_106826213insG	ENST00000228347.4	+	15	1803_1804	c.1581_1582insG	c.(1582-1584)gggfs	p.G528fs	POLR3B_ENST00000539066.1_Frame_Shift_Ins_p.G470fs	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	528					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ATTTATTATGTGGGGAAGAGCT	0.406																																																	0																																										SO:0001589	frameshift_variant	0			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1585dupG	12.37:g.106826216_106826216dupG	ENSP00000228347:p.Gly528fs		A8K6H0|B3KV73|F5H1E6|Q9NW59	Frame_Shift_Ins	INS	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5	p.E528fs	ENST00000228347.4	37	c.1581_1582	CCDS9105.1	12																																																																																			POLR3B	-	NULL	ENSG00000013503		0.406	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3B	HGNC	protein_coding	OTTHUMT00000407166.1		0.00	60	0	-	NM_018082		106826213	+1	tier1		no_errors	ENST00000228347	ensembl	human	known	74_37	frame_shift_ins	31.75	43	20	INS	1.000:1.000	G
POM121L9P	29774	genome.wustl.edu	37	22	24659571	24659571	+	RNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:24659571G>A	ENST00000414583.2	+	0	3096					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CCCGTCCTGCGCAGGCCAACA	0.597																																																	0																																												0			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659571G>A				RNA	SNP	-	NULL	ENST00000414583.2	37	NULL		22																																																																																			POM121L9P	-	-	ENSG00000128262		0.597	POM121L9P-001	KNOWN	basic	processed_transcript	POM121L9P	HGNC	pseudogene	OTTHUMT00000319991.1	-	0.00	201	0	G	NM_014549		24659571	+1	tier1	-	no_errors	ENST00000414583	ensembl	human	known	74_37	rna	37.34	98	59	SNP	0.001	A
POMGNT1	55624	genome.wustl.edu	37	1	46658080	46658080	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:46658080G>A	ENST00000371984.3	-	16	1470	c.1313C>T	c.(1312-1314)gCa>gTa	p.A438V	POMGNT1_ENST00000371986.3_Missense_Mutation_p.A438V|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000371992.1_Missense_Mutation_p.A438V|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000535522.1_Missense_Mutation_p.A416V	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	438					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GTACAGTAGTGCTGGGTCCTC	0.577																																																	0													72.0	74.0	73.0					1																	46658080		2203	4300	6503	SO:0001583	missense	0				CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.1313C>T	1.37:g.46658080G>A	ENSP00000361052:p.Ala438Val		D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	pfam_Glyco_trans_13	p.A438V	ENST00000371984.3	37	c.1313	CCDS531.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.221052	0.95139	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.74	5.74	0.90152	.	0.163295	0.56097	D	0.000035	D	0.83871	0.5348	L	0.50333	1.59	0.80722	D	1	P;P;P;P;P;P	0.48998	0.682;0.858;0.858;0.918;0.629;0.858	B;B;B;P;B;B	0.46685	0.234;0.345;0.345;0.524;0.345;0.345	D	0.83933	0.0307	10	0.48119	T	0.1	-13.9129	19.9221	0.97091	0.0:0.0:1.0:0.0	.	416;416;416;438;295;438	F5H827;B7Z7Q4;B7ZAT4;Q5VST3;B7Z7F2;Q8WZA1	.;.;.;.;.;PMGT1_HUMAN	V	438;438;416;438	ENSP00000361052:A438V;ENSP00000361060:A438V;ENSP00000443767:A416V;ENSP00000361054:A438V	ENSP00000361052:A438V	A	-	2	0	POMGNT1	46430667	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	9.184000	0.94893	2.716000	0.92895	0.650000	0.86243	GCA	POMGNT1	-	pfam_Glyco_trans_13	ENSG00000085998		0.577	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMGNT1	HGNC	protein_coding	OTTHUMT00000020146.1	-	0.00	35	0	G	NM_017739		46658080	-1	tier1	-	no_errors	ENST00000371986	ensembl	human	known	74_37	missense	37.50	15	9	SNP	0.998	A
PON2	5445	genome.wustl.edu	37	7	95045559	95045560	+	Frame_Shift_Ins	INS	-	-	A	rs115800748	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:95045559_95045560insA	ENST00000222572.3	-	3	441_442	c.195_196insT	c.(193-198)tttagtfs	p.S66fs	PON2_ENST00000433091.2_Frame_Shift_Ins_p.S66fs|GS1-293C5.1_ENST00000608730.1_RNA|PON2_ENST00000536183.1_Frame_Shift_Ins_p.S87fs			Q15165	PON2_HUMAN	paraoxonase 2	66					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CTCACCACACTAAAAAAAGCCA	0.376																																					GBM(42;803 823 13649 23368 31463)												0																																										SO:0001589	frameshift_variant	0			M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.196dupT	7.37:g.95045566_95045566dupA	ENSP00000222572:p.Ser66fs		A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	Frame_Shift_Ins	INS	pfam_Arylesterase,pfam_SGL,prints_Arylesterase,prints_Paraoxonase2	p.S86fs	ENST00000222572.3	37	c.259_258	CCDS5640.1	7																																																																																			PON2	-	NULL	ENSG00000105854		0.376	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PON2	HGNC	protein_coding	OTTHUMT00000333142.1		0.00	59	0	-	NM_000305		95045560	-1	tier1		no_errors	ENST00000536183	ensembl	human	known	74_37	frame_shift_ins	38.10	39	24	INS	0.999:0.867	A
POSTN	10631	genome.wustl.edu	37	13	38137448	38137448	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:38137448delT	ENST00000379747.4	-	0	2650				POSTN_ENST00000379743.4_3'UTR|POSTN_ENST00000379742.4_3'UTR|POSTN_ENST00000541179.1_3'UTR|POSTN_ENST00000379749.4_3'UTR	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGTATAAACATTTTTTTCTGG	0.348																																																	0													116.0	107.0	110.0					13																	38137448		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.*22A>-	13.37:g.38137448delT			B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	RNA	DEL	-	NULL	ENST00000379747.4	37	NULL	CCDS9364.1	13																																																																																			POSTN	-	-	ENSG00000133110		0.348	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2		0.00	40	0	T	NM_006475		38137448	-1	tier1		no_errors	ENST00000473823	ensembl	human	known	74_37	rna	28.30	38	15	DEL	0.032	-
POSTN	10631	genome.wustl.edu	37	13	38164539	38164539	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:38164539C>T	ENST00000379747.4	-	4	528	c.411G>A	c.(409-411)ccG>ccA	p.P137P	POSTN_ENST00000379743.4_Silent_p.P137P|POSTN_ENST00000379742.4_Silent_p.P137P|POSTN_ENST00000541481.1_Silent_p.P137P|POSTN_ENST00000541179.1_Silent_p.P137P|POSTN_ENST00000379749.4_Silent_p.P137P	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	137	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CCTCATTACTCGGTGCAAAGT	0.403																																																	0													106.0	89.0	95.0					13																	38164539		2202	4300	6502	SO:0001819	synonymous_variant	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.411G>A	13.37:g.38164539C>T			B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain	p.P137	ENST00000379747.4	37	c.411	CCDS9364.1	13																																																																																			POSTN	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain	ENSG00000133110		0.403	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	HGNC	protein_coding	OTTHUMT00000044566.2	-	0.00	38	0	C	NM_006475		38164539	-1	tier1	-	no_errors	ENST00000379747	ensembl	human	known	74_37	silent	19.61	41	10	SNP	0.778	T
POT1	25913	genome.wustl.edu	37	7	124493078	124493078	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:124493078G>A	ENST00000357628.3	-	10	1415	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	POT1_ENST00000393329.1_Missense_Mutation_p.R142W	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	273	DNA binding.		R -> L (in CMM10; complete abolition of POT1-DNA complex formation, thus disrupting the interaction with telomeres and leading to elongated telomeres). {ECO:0000269|PubMed:24686849}.		DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CTGATTCCCCGACCGTAACTG	0.363																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												0													113.0	107.0	109.0					7																	124493078		2203	4300	6503	SO:0001583	missense	0			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.817C>T	7.37:g.124493078G>A	ENSP00000350249:p.Arg273Trp		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13	p.R273W	ENST00000357628.3	37	c.817	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	G	23.4	4.416385	0.83449	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.73789	-0.27;-0.78	6.07	5.18	0.71444	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	D	0.85906	0.5806	M	0.79475	2.455	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.87748	0.2590	10	0.87932	D	0	-12.026	14.3583	0.66752	0.0:0.0:0.8508:0.1492	.	273	Q9NUX5	POTE1_HUMAN	W	273;142;273;273;273;272	ENSP00000350249:R273W;ENSP00000377002:R142W	ENSP00000265391:R272W	R	-	1	2	POT1	124280314	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.411000	0.59781	1.535000	0.49220	0.655000	0.94253	CGG	POT1	-	superfamily_NA-bd_OB-fold	ENSG00000128513		0.363	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	HGNC	protein_coding	OTTHUMT00000347861.1	-	0.00	63	0	G			124493078	-1	tier1	-	no_errors	ENST00000357628	ensembl	human	known	74_37	missense	37.70	38	23	SNP	1.000	A
POTEE	445582	genome.wustl.edu	37	2	131985955	131985955	+	Splice_Site	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:131985955G>A	ENST00000356920.5	+	5	1149		c.e5+1		RNU6-127P_ENST00000390897.1_RNA|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Splice_Site|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E						retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											ATCATCATGTGTAAGTGTTTA	0.358																																																	0													4.0	5.0	5.0					2																	131985955		1323	2991	4314	SO:0001630	splice_region_variant	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.1055+1G>A	2.37:g.131985955G>A			Q6S8J4|Q6S8J5|Q6S8J8	Splice_Site	SNP	-	e5+1	ENST00000356920.5	37	c.1055+1	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	g	7.427	0.637871	0.14386	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	.	.	.	0.887	0.887	0.19200	.	.	.	.	.	.	.	.	.	.	.	0.34549	D	0.711125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1522	0.15015	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC131180.1	131702425	0.870000	0.30015	0.268000	0.24571	0.248000	0.25809	3.200000	0.51051	0.782000	0.33613	0.162000	0.16502	.	POTEE	-	-	ENSG00000188219		0.358	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	HGNC	protein_coding		-	0.00	173	0	G	NM_001083538	Intron	131985955	+1	tier1	-	no_errors	ENST00000356920	ensembl	human	known	74_37	splice_site	18.92	150	35	SNP	0.405	A
POTEF	728378	genome.wustl.edu	37	2	130868115	130868115	+	Splice_Site	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:130868115C>T	ENST00000409914.2	-	7	1455		c.e7+1		AC018804.3_ENST00000433507.1_RNA|RNU6-1049P_ENST00000516414.1_RNA|POTEF_ENST00000357462.5_Splice_Site|POTEF_ENST00000361163.4_Splice_Site|POTEF_ENST00000360967.5_Splice_Site	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F						retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TAAACACTTACACATGATGAT	0.358																																																	0													17.0	18.0	17.0					2																	130868115		1797	3739	5536	SO:0001630	splice_region_variant	0			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.1055+1G>A	2.37:g.130868115C>T			A6NC34	Splice_Site	SNP	-	e5+1	ENST00000409914.2	37	c.1055+1	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	5.474	0.272511	0.10349	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	.	.	.	0.887	0.887	0.19200	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1522	0.15015	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POTEF	130584585	0.115000	0.22152	0.271000	0.24616	0.162000	0.22319	2.158000	0.42329	0.782000	0.33613	0.162000	0.16502	.	POTEF	-	-	ENSG00000196604		0.358	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	-	0.00	34	0	C	NM_001099771	Intron	130868115	-1	tier1	-	no_errors	ENST00000357462	ensembl	human	known	74_37	splice_site	34.38	21	11	SNP	0.407	T
POTEE	445582	genome.wustl.edu	37	2	131981607	131981607	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:131981607delA	ENST00000356920.5	+	3	895	c.801delA	c.(799-801)tcafs	p.S267fs	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Frame_Shift_Del_p.S277fs|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	267					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											ATATCGAATCAAAAAACAAGG	0.353																																																	0													1.0	1.0	1.0					2																	131981607		908	1925	2833	SO:0001589	frameshift_variant	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.801delA	2.37:g.131981607delA	ENSP00000439189:p.Ser267fs		Q6S8J4|Q6S8J5|Q6S8J8	Frame_Shift_Del	DEL	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.N269fs	ENST00000356920.5	37	c.801	CCDS46414.1	2																																																																																			POTEE	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000188219		0.353	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	HGNC	protein_coding			0.00	43	0	A	NM_001083538		131981607	+1			no_errors	ENST00000356920	ensembl	human	known	74_37	frame_shift_del	31.25	22	10	DEL	0.968	0
POTEE	445582	genome.wustl.edu	37	2	132021787	132021787	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:132021787C>A	ENST00000356920.5	+	15	2853	c.2759C>A	c.(2758-2760)gCc>gAc	p.A920D	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	920	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TGCTATGTTGCCCTGGACTTC	0.587																																																	0													100.0	110.0	106.0					2																	132021787		2201	4295	6496	SO:0001583	missense	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2759C>A	2.37:g.132021787C>A	ENSP00000439189:p.Ala920Asp		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.A920D	ENST00000356920.5	37	c.2759	CCDS46414.1	2	.	.	.	.	.	.	.	.	.	.	.	17.77	3.471947	0.63737	.	.	ENSG00000188219	ENST00000356920	D	0.94723	-3.5	.	.	.	.	.	.	.	.	D	0.98213	0.9409	H	0.99838	4.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95031	0.8169	8	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	920	Q6S8J3	POTEE_HUMAN	D	920	ENSP00000439189:A920D	ENSP00000439189:A920D	A	+	2	0	AC131180.1	131738257	1.000000	0.71417	0.499000	0.27577	0.503000	0.33858	5.240000	0.65378	0.119000	0.18210	0.121000	0.15741	GCC	POTEE	-	pfam_Actin-related,smart_Actin-related	ENSG00000188219		0.587	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	HGNC	protein_coding		-	0.00	215	0	C	NM_001083538		132021787	+1	tier1	-	no_errors	ENST00000356920	ensembl	human	known	74_37	missense	11.86	171	23	SNP	1.000	A
POU2F1	5451	genome.wustl.edu	37	1	167385179	167385182	+	3'UTR	DEL	AAAA	AAAA	-	rs398053500|rs572687241	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:167385179_167385182delAAAA	ENST00000541643.3	+	0	2526_2529				POU2F1_ENST00000367866.2_3'UTR|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367862.5_3'UTR|POU2F1_ENST00000367865.1_3'UTR			P14859	PO2F1_HUMAN	POU class 2 homeobox 1						gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GAGAAGGGAGAAAAAAAAAAAAAA	0.402																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.*135AAAA>-	1.37:g.167385187_167385190delAAAA			B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	RNA	DEL	-	NULL	ENST00000541643.3	37	NULL		1																																																																																			POU2F1	-	-	ENSG00000143190		0.402	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	POU2F1	HGNC	protein_coding			0.00	80	0	AAAA	NM_002697		167385182	+1	tier1		no_errors	ENST00000367865	ensembl	human	known	74_37	rna	46.43	45	39	DEL	0.090:0.002:0.000:0.000	-
POU2F2	5452	genome.wustl.edu	37	19	42600367	42600367	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:42600367G>A	ENST00000526816.2	-	8	545	c.530C>T	c.(529-531)cCg>cTg	p.P177L	POU2F2_ENST00000529952.1_Missense_Mutation_p.P177L|POU2F2_ENST00000529067.1_Intron|POU2F2_ENST00000560398.1_Intron|POU2F2_ENST00000342301.4_Missense_Mutation_p.P177L|POU2F2_ENST00000533720.1_Intron|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000389341.5_Intron			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	177					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	CGAGAGGTGCGGGTCGGGCAG	0.692																																																	0													20.0	20.0	20.0					19																	42600367		2203	4300	6503	SO:0001583	missense	0				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.530C>T	19.37:g.42600367G>A	ENSP00000431603:p.Pro177Leu		Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.P177L	ENST00000526816.2	37	c.530	CCDS56095.1	19	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630212	0.67015	.	.	ENSG00000028277	ENST00000342301;ENST00000292077;ENST00000526816;ENST00000529952	D;D	0.85013	-1.93;-1.83	4.03	4.03	0.46877	.	2.436220	0.02216	N	0.063634	T	0.77519	0.4142	L	0.29908	0.895	0.41670	D	0.989234	P	0.43352	0.804	B	0.25614	0.062	T	0.66956	-0.5792	9	.	.	.	.	15.475	0.75471	0.0:0.0:1.0:0.0	.	177	P09086	PO2F2_HUMAN	L	177;177;176;177	ENSP00000339369:P177L;ENSP00000436988:P177L	.	P	-	2	0	POU2F2	47292207	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.202000	0.65169	2.236000	0.73375	0.650000	0.86243	CCG	POU2F2	-	NULL	ENSG00000028277		0.692	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POU2F2	HGNC	protein_coding	OTTHUMT00000387329.3	-	0.00	10	0	G			42600367	-1	tier1	-	no_errors	ENST00000342301	ensembl	human	known	74_37	missense	36.36	7	4	SNP	1.000	A
POU4F3	5459	genome.wustl.edu	37	5	145719656	145719656	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:145719656G>A	ENST00000230732.4	+	2	755	c.666G>A	c.(664-666)tcG>tcA	p.S222S	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	222	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGTGGGCTCGCTGAGCCAAA	0.642																																																	0													47.0	50.0	49.0					5																	145719656		2203	4300	6503	SO:0001819	synonymous_variant	0			U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.666G>A	5.37:g.145719656G>A			O60557|Q2M3F8	Silent	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.S222	ENST00000230732.4	37	c.666	CCDS4281.1	5																																																																																			POU4F3	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific	ENSG00000091010		0.642	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F3	HGNC	protein_coding	OTTHUMT00000251887.2	-	0.00	92	0	G	NM_002700		145719656	+1	tier1	-	no_errors	ENST00000230732	ensembl	human	known	74_37	silent	36.78	55	32	SNP	0.862	A
PPAP2B	8613	genome.wustl.edu	37	1	56978869	56978869	+	Intron	DEL	A	A	-	rs367756101	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:56978869delA	ENST00000371250.3	-	5	1185				PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B						Bergmann glial cell differentiation (GO:0060020)|blood vessel development (GO:0001568)|canonical Wnt signaling pathway involved in positive regulation of cell-cell adhesion (GO:0044329)|canonical Wnt signaling pathway involved in positive regulation of endothelial cell migration (GO:0044328)|canonical Wnt signaling pathway involved in positive regulation of wound healing (GO:0044330)|dephosphorylation (GO:0016311)|gastrulation with mouth forming second (GO:0001702)|germ cell migration (GO:0008354)|homotypic cell-cell adhesion (GO:0034109)|lipid metabolic process (GO:0006629)|negative regulation of protein phosphorylation (GO:0001933)|phospholipid metabolic process (GO:0006644)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of sphingolipid mediated signaling pathway (GO:1902068)|regulation of Wnt signaling pathway (GO:0030111)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	adherens junction (GO:0005912)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)|sphingosine-1-phosphate phosphatase activity (GO:0042392)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						ATGGAAGATTAAAAAAAAAAC	0.408													|||unknown(HR)	60	0.0119808	0.0363	0.0086	5008	,	,		19616	0.003		0.001	False		,,,				2504	0.002																0																																										SO:0001627	intron_variant	0			AB000889	CCDS604.1	1p32.2	2009-05-27			ENSG00000162407	ENSG00000162407	3.1.3.4		9229	protein-coding gene	gene with protein product		607125				9305923	Standard	NM_003713		Approved	PAP-2b, LPP3	uc001cyj.2	O14495	OTTHUMG00000008160	ENST00000371250.3:c.634-1045T>-	1.37:g.56978869delA			B2R651|D3DQ52|Q5U0F7|Q96GW0|Q99782	RNA	DEL	-	NULL	ENST00000371250.3	37	NULL	CCDS604.1	1																																																																																			PPAP2B	-	-	ENSG00000162407		0.408	PPAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2B	HGNC	protein_coding	OTTHUMT00000022334.2		0.00	42	0	A	NM_003713		56978869	-1	tier1		no_errors	ENST00000459962	ensembl	human	putative	74_37	rna	37.50	20	12	DEL	0.000	-
PPARA	5465	genome.wustl.edu	37	22	46614298	46614298	+	Splice_Site	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:46614298G>T	ENST00000396000.2	+	5	773	c.508G>T	c.(508-510)Gcg>Tcg	p.A170S	PPARA_ENST00000402126.1_Splice_Site_p.A170S|PPARA_ENST00000407236.1_Splice_Site_p.A170S|PPARA_ENST00000434345.2_Splice_Site_p.A170S|PPARA_ENST00000262735.5_Splice_Site_p.A170S			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	170					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	GTCACACAACGGTAGGTAAGG	0.478																																																	0													232.0	208.0	216.0					22																	46614298		2203	4300	6503	SO:0001630	splice_region_variant	0			L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.508+1G>T	22.37:g.46614298G>T			B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.A170S	ENST00000396000.2	37	c.508	CCDS33669.1	22	.	.	.	.	.	.	.	.	.	.	G	35	5.523772	0.96431	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000407236;ENST00000402126;ENST00000434345	D;D;D;D;D	0.96619	-4.07;-4.07;-4.07;-4.07;-4.07	5.67	5.67	0.87782	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (1);	0.000000	0.85682	D	0.000000	D	0.97371	0.9140	M	0.84773	2.715	0.80722	D	1	P;P	0.47962	0.903;0.903	P;P	0.50270	0.636;0.636	D	0.96877	0.9643	10	0.37606	T	0.19	.	18.7666	0.91876	0.0:0.0:1.0:0.0	.	170;170	F1D8S4;Q07869	.;PPARA_HUMAN	S	170	ENSP00000379322:A170S;ENSP00000262735:A170S;ENSP00000385523:A170S;ENSP00000385246:A170S;ENSP00000408149:A170S	ENSP00000262735:A170S	A	+	1	0	PPARA	44992962	1.000000	0.71417	0.982000	0.44146	0.967000	0.64934	9.632000	0.98428	2.658000	0.90341	0.591000	0.81541	GCG;GCG;GCG;GCG;GCC	PPARA	-	pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	ENSG00000186951		0.478	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARA	HGNC	protein_coding	OTTHUMT00000318129.3	-	0.00	51	0	G	NM_001001928	Missense_Mutation	46614298	+1	tier1	-	no_errors	ENST00000262735	ensembl	human	known	74_37	missense	41.67	28	20	SNP	1.000	T
PPARG	5468	genome.wustl.edu	37	3	12434182	12434182	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:12434182delA	ENST00000287820.6	+	4	671	c.550delA	c.(550-552)aaafs	p.K185fs	PPARG_ENST00000397010.2_Frame_Shift_Del_p.K157fs|PPARG_ENST00000397015.2_Frame_Shift_Del_p.K157fs|PPARG_ENST00000397012.2_Frame_Shift_Del_p.K157fs|PPARG_ENST00000397000.1_Frame_Shift_Del_p.K157fs|PPARG_ENST00000539812.1_Frame_Shift_Del_p.K155fs|PPARG_ENST00000309576.6_Frame_Shift_Del_p.K157fs|PPARG_ENST00000397026.2_Frame_Shift_Del_p.K163fs	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	185					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	TCGGATCCACAAAAAAAGTAG	0.363			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																																	Dom	yes		3	3p25	5468	"""peroxisome proliferative activated receptor, gamma"""	yes	E	0													103.0	105.0	104.0					3																	12434182		2203	4300	6503	SO:0001589	frameshift_variant	0			X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.550delA	3.37:g.12434182delA	ENSP00000287820:p.Lys185fs		A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Frame_Shift_Del	DEL	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S186fs	ENST00000287820.6	37	c.550	CCDS2609.1	3																																																																																			PPARG	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	ENSG00000132170		0.363	PPARG-002	KNOWN	basic|CCDS	protein_coding	PPARG	HGNC	protein_coding	OTTHUMT00000251979.2		0.00	82	0	A	NM_005037		12434182	+1	tier1		no_errors	ENST00000287820	ensembl	human	known	74_37	frame_shift_del	40.00	42	28	DEL	1.000	-
PPID	5481	genome.wustl.edu	37	4	159642600	159642600	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:159642600C>T	ENST00000307720.3	-	2	228	c.121G>A	c.(121-123)Gta>Ata	p.V41I		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	41	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		GTTTTGGGTACGATATCTGCA	0.378																																																	0													94.0	91.0	92.0					4																	159642600		2203	4300	6503	SO:0001583	missense	0				CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"""Tetratricopeptide (TTC) repeat domain containing"""	9257	protein-coding gene	gene with protein product	"""cyclophilin 40"""	601753	"""peptidylprolyl isomerase D (cyclophilin D)"""			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.121G>A	4.37:g.159642600C>T	ENSP00000303754:p.Val41Ile		B2R9V2	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.V41I	ENST00000307720.3	37	c.121	CCDS3801.1	4	.	.	.	.	.	.	.	.	.	.	C	16.47	3.131709	0.56828	.	.	ENSG00000171497	ENST00000307720	T	0.23552	1.9	5.0	5.0	0.66597	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.39083	N	0.001475	T	0.39253	0.1071	M	0.85542	2.76	0.48571	D	0.999676	B	0.20780	0.048	B	0.18561	0.022	T	0.43829	-0.9367	10	0.87932	D	0	-28.2983	19.1814	0.93625	0.0:1.0:0.0:0.0	.	41	Q08752	PPID_HUMAN	I	41	ENSP00000303754:V41I	ENSP00000303754:V41I	V	-	1	0	PPID	159862050	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.597000	0.54031	2.706000	0.92434	0.561000	0.74099	GTA	PPID	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	ENSG00000171497		0.378	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPID	HGNC	protein_coding	OTTHUMT00000366436.1	-	0.00	75	0	C	NM_005038		159642600	-1	tier1	-	no_errors	ENST00000307720	ensembl	human	known	74_37	missense	29.47	67	28	SNP	1.000	T
PPIL4	85313	genome.wustl.edu	37	6	149833366	149833366	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:149833366delT	ENST00000253329.2	-	12	1184	c.1152delA	c.(1150-1152)aaafs	p.K384fs	PPIL4_ENST00000340881.2_Frame_Shift_Del_p.N17fs	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	384	Lys-rich.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TCTTCTTGTGTTTTTTACTTG	0.363																																																	0													242.0	226.0	232.0					6																	149833366		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1152delA	6.37:g.149833366delT	ENSP00000253329:p.Lys384fs		B2RD34|Q7Z3Q5	Frame_Shift_Del	DEL	pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.K384fs	ENST00000253329.2	37	c.1152	CCDS34550.1	6																																																																																			PPIL4	-	NULL	ENSG00000131013		0.363	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL4	HGNC	protein_coding	OTTHUMT00000042642.1		0.00	122	0	T			149833366	-1	tier1		no_errors	ENST00000253329	ensembl	human	known	74_37	frame_shift_del	28.19	107	42	DEL	0.998	-
PPL	5493	genome.wustl.edu	37	16	4935547	4935547	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:4935547G>A	ENST00000345988.2	-	22	3198	c.3109C>T	c.(3109-3111)Cgt>Tgt	p.R1037C	PPL_ENST00000590782.2_Missense_Mutation_p.R1035C	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1037					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCGGCCACACGCTGCTGCAGG	0.657																																																	0													30.0	35.0	33.0					16																	4935547		2197	4300	6497	SO:0001583	missense	0			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3109C>T	16.37:g.4935547G>A	ENSP00000340510:p.Arg1037Cys		O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R1037C	ENST00000345988.2	37	c.3109	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900997	0.92035	.	.	ENSG00000118898	ENST00000345988	T	0.51071	0.72	4.98	4.98	0.66077	.	0.071679	0.56097	D	0.000021	T	0.57548	0.2061	L	0.57536	1.79	0.80722	D	1	D	0.64830	0.994	P	0.51355	0.667	T	0.63857	-0.6542	10	0.87932	D	0	.	18.2832	0.90105	0.0:0.0:1.0:0.0	.	1037	O60437	PEPL_HUMAN	C	1037	ENSP00000340510:R1037C	ENSP00000340510:R1037C	R	-	1	0	PPL	4875548	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	9.434000	0.97515	2.321000	0.78463	0.555000	0.69702	CGT	PPL	-	NULL	ENSG00000118898		0.657	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	-	0.00	32	0	G	NM_002705		4935547	-1	tier1	-	no_errors	ENST00000345988	ensembl	human	known	74_37	missense	39.29	17	11	SNP	1.000	A
PPM1K	152926	genome.wustl.edu	37	4	89189444	89189444	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:89189444delC	ENST00000608933.1	-	5	1139	c.750delG	c.(748-750)gggfs	p.G250fs	PPM1K_ENST00000506423.1_5'Flank|PPM1K_ENST00000508256.1_Frame_Shift_Del_p.G31fs|PPM1K_ENST00000295908.7_Frame_Shift_Del_p.G250fs	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	250	PP2C-like.				protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CGTGAGGCTGCCCCAAACTAT	0.423																																																	0													137.0	125.0	129.0					4																	89189444		2203	4300	6503	SO:0001589	frameshift_variant	0			BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.750delG	4.37:g.89189444delC	ENSP00000477341:p.Gly250fs		B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Frame_Shift_Del	DEL	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.Q251fs	ENST00000608933.1	37	c.750	CCDS3629.1	4																																																																																			PPM1K	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000163644		0.423	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1K	HGNC	protein_coding	OTTHUMT00000253553.4		0.00	70	0	C	NM_152542		89189444	-1	tier1		no_errors	ENST00000608933	ensembl	human	known	74_37	frame_shift_del	33.33	50	25	DEL	0.984	-
PPM1K	152926	genome.wustl.edu	37	4	89189962	89189962	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:89189962delA	ENST00000608933.1	-	4	1027	c.638delT	c.(637-639)ttgfs	p.L213fs	PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000508256.1_5'UTR|PPM1K_ENST00000295908.7_Frame_Shift_Del_p.L213fs	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	213	PP2C-like.				protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TTTTCTACACAAAATAGCCCG	0.448																																																	0													205.0	204.0	204.0					4																	89189962		2203	4300	6503	SO:0001589	frameshift_variant	0			BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.638delT	4.37:g.89189962delA	ENSP00000477341:p.Leu213fs		B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Frame_Shift_Del	DEL	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.L213fs	ENST00000608933.1	37	c.638	CCDS3629.1	4																																																																																			PPM1K	-	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	ENSG00000163644		0.448	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1K	HGNC	protein_coding	OTTHUMT00000253553.4		0.00	64	0	A	NM_152542		89189962	-1	tier1		no_errors	ENST00000608933	ensembl	human	known	74_37	frame_shift_del	33.73	55	28	DEL	1.000	-
PPP1R16B	26051	genome.wustl.edu	37	20	37529287	37529287	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:37529287A>G	ENST00000299824.1	+	5	720	c.531A>G	c.(529-531)gaA>gaG	p.E177E	PPP1R16B_ENST00000373331.2_Silent_p.E177E	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	177					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GCGAGGATGAACCCACCCTGG	0.572																																																	0													150.0	99.0	116.0					20																	37529287		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.531A>G	20.37:g.37529287A>G			A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E177	ENST00000299824.1	37	c.531	CCDS13309.1	20	.	.	.	.	.	.	.	.	.	.	A	10.06	1.248073	0.22880	.	.	ENSG00000101445	ENST00000438192	.	.	.	4.98	1.95	0.26073	.	.	.	.	.	T	0.55545	0.1927	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49409	-0.8943	4	.	.	.	.	7.773	0.29019	0.4224:0.0:0.5776:0.0	.	.	.	.	S	120	.	.	N	+	2	0	PPP1R16B	36962701	0.783000	0.28701	1.000000	0.80357	0.996000	0.88848	-0.063000	0.11655	0.761000	0.33130	-0.242000	0.12053	AAC	PPP1R16B	-	superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt-contain_dom	ENSG00000101445		0.572	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16B	HGNC	protein_coding	OTTHUMT00000079220.2	-	0.00	51	0	A	NM_015568		37529287	+1	tier1	-	no_errors	ENST00000299824	ensembl	human	known	74_37	silent	40.38	31	21	SNP	1.000	G
PPP1R26	9858	genome.wustl.edu	37	9	138378164	138378164	+	Missense_Mutation	SNP	G	G	T	rs35693729	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:138378164G>T	ENST00000356818.2	+	4	2357	c.1808G>T	c.(1807-1809)aGg>aTg	p.R603M	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R603M|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R603M|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R603M|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R603M	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	603					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GGCCATGTGAGGCCATCCACG	0.617																																																	0													45.0	49.0	48.0					9																	138378164		2203	4300	6503	SO:0001583	missense	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1808G>T	9.37:g.138378164G>T	ENSP00000349274:p.Arg603Met		Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	NULL	p.R603M	ENST00000356818.2	37	c.1808	CCDS6988.1	9	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094383	0.36952	.	.	ENSG00000196422	ENST00000356818	T	0.21932	1.98	5.18	-3.47	0.04753	.	0.941325	0.08841	N	0.885800	T	0.07188	0.0182	N	0.03608	-0.345	0.09310	N	1	P	0.34587	0.458	B	0.35039	0.194	T	0.24404	-1.0161	10	0.42905	T	0.14	-1.6491	2.4297	0.04468	0.473:0.1195:0.2883:0.1193	.	603	Q5T8A7	PPR26_HUMAN	M	603	ENSP00000349274:R603M	ENSP00000349274:R603M	R	+	2	0	KIAA0649	137517985	0.000000	0.05858	0.000000	0.03702	0.367000	0.29736	0.428000	0.21395	-0.696000	0.05098	0.561000	0.74099	AGG	PPP1R26	-	NULL	ENSG00000196422		0.617	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1	-	0.00	34	0	G	NM_014811		138378164	+1	tier1	-	no_errors	ENST00000356818	ensembl	human	known	74_37	missense	46.67	16	14	SNP	0.000	T
PPP1R26	9858	genome.wustl.edu	37	9	138379511	138379511	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:138379511delG	ENST00000356818.2	+	4	3704	c.3155delG	c.(3154-3156)aggfs	p.R1052fs	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Frame_Shift_Del_p.R1052fs|PPP1R26_ENST00000605660.1_Frame_Shift_Del_p.R1052fs|PPP1R26_ENST00000604351.1_Frame_Shift_Del_p.R1052fs|PPP1R26_ENST00000605286.1_Frame_Shift_Del_p.R1052fs	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	1052					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GCAGTGTGGAGGGGGGGCGTC	0.741																																																	0										3,3407		1,1,1703	3.0	4.0	3.0			3.6	0.5	9		3	16,6902		1,14,3444	no	frameshift	KIAA0649	NM_014811.3		2,15,5147	A1A1,A1R,RR		0.2313,0.088,0.184			138379511	19,10309	1875	3768	5643	SO:0001589	frameshift_variant	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.3155delG	9.37:g.138379511delG	ENSP00000349274:p.Arg1052fs		Q86WU0|Q8WVV0|Q9Y4D3	Frame_Shift_Del	DEL	NULL	p.G1054fs	ENST00000356818.2	37	c.3155	CCDS6988.1	9																																																																																			PPP1R26	-	NULL	ENSG00000196422		0.741	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1		0.00	15	0	G	NM_014811		138379511	+1	tier1		no_errors	ENST00000356818	ensembl	human	known	74_37	frame_shift_del	29.41	12	5	DEL	0.000	-
PPP2R3A	5523	genome.wustl.edu	37	3	135768155	135768155	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:135768155G>T	ENST00000264977.3	+	5	3038	c.2421G>T	c.(2419-2421)aaG>aaT	p.K807N	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.K186N|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.K71N|PPP2R3A_ENST00000492624.2_Missense_Mutation_p.K71N	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	807					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTCTAGCAAAGCCCAACTGCA	0.383																																																	0													155.0	150.0	152.0					3																	135768155		2203	4300	6503	SO:0001583	missense	0			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2421G>T	3.37:g.135768155G>T	ENSP00000264977:p.Lys807Asn		A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.K807N	ENST00000264977.3	37	c.2421	CCDS3087.1	3	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909009	0.52439	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546;ENST00000492624	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.4	-1.79	0.07932	.	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	L	0.31845	0.965	0.35353	D	0.787515	B;B	0.25105	0.02;0.118	B;B	0.33254	0.034;0.16	T	0.06881	-1.0802	10	0.51188	T	0.08	.	6.0958	0.20019	0.5222:0.0:0.3471:0.1307	.	186;807	Q06190-2;Q06190	.;P2R3A_HUMAN	N	807;71;186;71	ENSP00000264977:K807N;ENSP00000419344:K71N;ENSP00000334748:K186N;ENSP00000417231:K71N	ENSP00000264977:K807N	K	+	3	2	PPP2R3A	137250845	0.638000	0.27225	0.972000	0.41901	0.997000	0.91878	-0.098000	0.11024	-0.473000	0.06871	0.555000	0.69702	AAG	PPP2R3A	-	NULL	ENSG00000073711		0.383	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3A	HGNC	protein_coding	OTTHUMT00000357232.1	-	0.00	47	0	G	NM_002718		135768155	+1	tier1	-	no_errors	ENST00000264977	ensembl	human	known	74_37	missense	7.04	66	5	SNP	0.987	T
PPP2R3C	55012	genome.wustl.edu	37	14	35585935	35585935	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:35585935delT	ENST00000261475.5	-	2	420	c.67delA	c.(67-69)agtfs	p.S23fs	PPP2R3C_ENST00000555644.1_Frame_Shift_Del_p.S23fs	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	23					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		TCTTGTTCACTTTTTTTTTCT	0.269																																																	0													50.0	52.0	52.0					14																	35585935		2202	4298	6500	SO:0001589	frameshift_variant	0			AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.67delA	14.37:g.35585935delT	ENSP00000261475:p.Ser23fs		B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Frame_Shift_Del	DEL	NULL	p.S23fs	ENST00000261475.5	37	c.67	CCDS9654.1	14																																																																																			PPP2R3C	-	NULL	ENSG00000092020		0.269	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3C	HGNC	protein_coding	OTTHUMT00000276687.1		0.00	41	0	T	NM_017917		35585935	-1	tier1		no_errors	ENST00000261475	ensembl	human	known	74_37	frame_shift_del	39.47	23	15	DEL	1.000	-
PPP6R2	9701	genome.wustl.edu	37	22	50853069	50853069	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:50853069G>A	ENST00000216061.5	+	6	873	c.503G>A	c.(502-504)cGc>cAc	p.R168H	PPP6R2_ENST00000359139.3_Missense_Mutation_p.R168H|PPP6R2_ENST00000395744.3_Missense_Mutation_p.R168H|PPP6R2_ENST00000395741.3_Missense_Mutation_p.R168H			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	168						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CTGCTGCTGCGCCTGGTCAGC	0.607																																																	0													83.0	73.0	76.0					22																	50853069		2203	4300	6503	SO:0001583	missense	0			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.503G>A	22.37:g.50853069G>A	ENSP00000216061:p.Arg168His		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.R168H	ENST00000216061.5	37	c.503		22	.	.	.	.	.	.	.	.	.	.	G	36	5.701356	0.96812	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.8	5.8	0.92144	.	0.046228	0.85682	N	0.000000	T	0.62732	0.2452	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.993;0.999;0.996	T	0.66984	-0.5785	10	0.87932	D	0	-33.7254	18.8306	0.92137	0.0:0.0:1.0:0.0	.	168;168;168;168;168	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	H	168	ENSP00000352051:R168H;ENSP00000379090:R168H;ENSP00000379093:R168H;ENSP00000216061:R168H	ENSP00000216061:R168H	R	+	2	0	PPP6R2	49199935	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.470000	0.97683	2.747000	0.94245	0.462000	0.41574	CGC	PPP6R2	-	pfam_SAPS,superfamily_ARM-type_fold	ENSG00000100239		0.607	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1	-	0.00	71	0	G	NM_014678		50853069	+1	tier1	-	no_errors	ENST00000216061	ensembl	human	known	74_37	missense	43.18	25	19	SNP	1.000	A
PRB2	653247	genome.wustl.edu	37	12	11653896	11653896	+	5'UTR	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:11653896delC	ENST00000545829.1	-	0	79							P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2							extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GCCCCCGGAACCCCCCTTCAG	0.637																																																	0																																										SO:0001623	5_prime_UTR_variant	0			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000545829.1:c.-327G>-	12.37:g.11653896delC			O00599|P02811|P04281	RNA	DEL	-	NULL	ENST00000545829.1	37	NULL		12																																																																																			PRB2	-	-	ENSG00000121335		0.637	PRB2-002	KNOWN	basic	processed_transcript	PRB2	HGNC	protein_coding	OTTHUMT00000402323.1		0.00	15	0	C	NM_006248		11653896	-1	tier1		no_errors	ENST00000545829	ensembl	human	known	74_37	rna	50.00	10	10	DEL	0.993	-
PRDM15	63977	genome.wustl.edu	37	21	43220665	43220665	+	IGR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:43220665delA	ENST00000269844.3	-	0	4710				PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_3'UTR|PRDM15_ENST00000538201.1_3'UTR|PRDM15_ENST00000422911.1_3'UTR|PRDM15_ENST00000398548.1_3'UTR	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AAATAAAGTTAAAAAAAAAAA	0.343																																																	0																																										SO:0001628	intergenic_variant	0			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781		21.37:g.43220665delA			E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	RNA	DEL	-	NULL	ENST00000269844.3	37	NULL	CCDS13676.1	21																																																																																			PRDM15	-	-	ENSG00000141956		0.343	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding			0.00	12	0	A	NM_022115		43220665	-1	tier1		no_errors	ENST00000470586	ensembl	human	putative	74_37	rna	33.33	12	6	DEL	0.000	-
PREX2	80243	genome.wustl.edu	37	8	68956723	68956723	+	Splice_Site	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:68956723C>T	ENST00000288368.4	+	8	1118	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	281	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CATCTTAAGACGGTTGAAGAA	0.383																																																	0													116.0	109.0	111.0					8																	68956723		2203	4299	6502	SO:0001630	splice_region_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.840-1C>T	8.37:g.68956723C>T			B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R281W	ENST00000288368.4	37	c.841	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603563	0.66445	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.60672	0.17	5.98	5.98	0.97165	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.77665	0.4164	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.76575	0.988;0.929;0.968	T	0.79120	-0.1934	10	0.66056	D	0.02	.	16.6782	0.85285	0.1301:0.8698:0.0:0.0	.	281;281;281	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	W	281	ENSP00000288368:R281W	ENSP00000288368:R281W	R	+	1	2	PREX2	69119277	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	4.528000	0.60580	2.838000	0.97847	0.591000	0.81541	CGG	PREX2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000046889		0.383	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0.00	49	0	C	NM_025170	Missense_Mutation	68956723	+1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	31.13	73	33	SNP	1.000	T
PRKCDBP	112464	genome.wustl.edu	37	11	6340635	6340635	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:6340635C>T	ENST00000303927.3	-	2	714	c.544G>A	c.(544-546)Gga>Aga	p.G182R	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.G214R	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	182					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCTGCAATCCGGTGCGCCGC	0.711																																																	0													22.0	27.0	25.0					11																	6340635		2195	4290	6485	SO:0001583	missense	0			AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"""sdr-related gene product that binds to c-kinase"""					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.544G>A	11.37:g.6340635C>T	ENSP00000307292:p.Gly182Arg			Missense_Mutation	SNP	NULL	p.G182R	ENST00000303927.3	37	c.544	CCDS7762.1	11	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618303	0.87359	.	.	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.62788	-0.0;-0.0	5.08	5.08	0.68730	.	0.053627	0.85682	D	0.000000	T	0.66567	0.2802	N	0.19112	0.55	0.32268	N	0.569264	D	0.89917	1.0	D	0.97110	1.0	T	0.73975	-0.3813	10	0.87932	D	0	-32.6206	13.9712	0.64242	0.0:1.0:0.0:0.0	.	182	Q969G5	PRDBP_HUMAN	R	182;214	ENSP00000307292:G182R;ENSP00000432047:G214R	ENSP00000307292:G182R	G	-	1	0	PRKCDBP	6297211	0.373000	0.25073	0.832000	0.32986	0.996000	0.88848	2.581000	0.46077	2.368000	0.80403	0.561000	0.74099	GGA	PRKCDBP	-	NULL	ENSG00000170955		0.711	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCDBP	HGNC	protein_coding	OTTHUMT00000257228.2	-	0.00	20	0	C	NM_145040		6340635	-1	tier1	-	no_errors	ENST00000303927	ensembl	human	known	74_37	missense	58.33	5	7	SNP	0.654	T
PRKCZ	5590	genome.wustl.edu	37	1	2116115	2116115	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:2116115G>A	ENST00000400921.2	+	14	1803	c.1120G>A	c.(1120-1122)Gtg>Atg	p.V374M	PRKCZ_ENST00000400920.1_Missense_Mutation_p.V374M|PRKCZ_ENST00000479263.1_3'UTR|C1orf86_ENST00000400919.3_3'UTR|RP11-181G12.2_ENST00000536678.1_RNA|RP11-181G12.2_ENST00000333854.2_RNA|RP11-181G12.2_ENST00000444529.1_RNA	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	557	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	CAGCGAGCCCGTGCAGCTGAC	0.632																																																	0													50.0	46.0	47.0					1																	2116115		2203	4300	6503	SO:0001583	missense	0			BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.1120G>A	1.37:g.2116115G>A	ENSP00000383712:p.Val374Met		A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.V557M	ENST00000400921.2	37	c.1669	CCDS41229.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982703	0.74474	.	.	ENSG00000067606	ENST00000378567;ENST00000400921;ENST00000461106;ENST00000400920	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.17	4.26	0.50523	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80849	0.4702	M	0.91459	3.21	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.65140	0.916;0.916;0.916;0.932	D	0.84087	0.0388	10	0.56958	D	0.05	.	12.5142	0.56024	0.0807:0.0:0.9193:0.0	.	453;381;453;557	E9PCW2;B3KUN5;B7Z2J7;Q05513	.;.;.;KPCZ_HUMAN	M	557;374;453;374	ENSP00000367830:V557M;ENSP00000383712:V374M;ENSP00000426412:V453M;ENSP00000383711:V374M	ENSP00000367830:V557M	V	+	1	0	PRKCZ	2105975	1.000000	0.71417	0.973000	0.42090	0.896000	0.52359	6.003000	0.70701	1.175000	0.42826	0.491000	0.48974	GTG	PRKCZ	-	pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_PKC_zeta	ENSG00000067606		0.632	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	PRKCZ	HGNC	protein_coding	OTTHUMT00000098533.3	-	0.00	46	0	G	NM_002744		2116115	+1	tier1	-	no_errors	ENST00000378567	ensembl	human	known	74_37	missense	48.08	27	25	SNP	0.996	A
PRKD2	25865	genome.wustl.edu	37	19	47177940	47177940	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:47177940C>T	ENST00000291281.4	-	18	2702	c.2477G>A	c.(2476-2478)cGa>cAa	p.R826Q	DACT3-AS1_ENST00000525352.1_RNA|PRKD2_ENST00000433867.1_Missense_Mutation_p.R826Q|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000595515.1_Missense_Mutation_p.R836Q|PRKD2_ENST00000600194.1_Missense_Mutation_p.R669Q|PRKD2_ENST00000601806.1_Missense_Mutation_p.R669Q			Q9BZL6	KPCD2_HUMAN	protein kinase D2	826					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CGTGATGTATCGCTCTCCCAT	0.627																																																	0													78.0	56.0	63.0					19																	47177940		2203	4300	6503	SO:0001583	missense	0			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2477G>A	19.37:g.47177940C>T	ENSP00000291281:p.Arg826Gln		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd	p.R826Q	ENST00000291281.4	37	c.2477	CCDS12689.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.718310	0.96839	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.68331	-0.32;-0.32	4.79	4.79	0.61399	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000003	D	0.82416	0.5032	M	0.82056	2.57	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	0.986;0.929;1.0	D	0.84104	0.0397	10	0.51188	T	0.08	-38.2987	16.9757	0.86312	0.0:1.0:0.0:0.0	.	836;311;826	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	Q	826	ENSP00000291281:R826Q;ENSP00000393978:R826Q	ENSP00000291281:R826Q	R	-	2	0	PRKD2	51869780	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	7.723000	0.84788	2.367000	0.80283	0.655000	0.94253	CGA	PRKD2	-	superfamily_Kinase-like_dom	ENSG00000105287		0.627	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1	-	0.00	35	0	C	NM_016457		47177940	-1	tier1	-	no_errors	ENST00000291281	ensembl	human	known	74_37	missense	41.18	20	14	SNP	1.000	T
PRKDC	5591	genome.wustl.edu	37	8	48691161	48691161	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:48691161G>A	ENST00000314191.2	-	84	11765	c.11709C>T	c.(11707-11709)ttC>ttT	p.F3903F	PRKDC_ENST00000338368.3_Silent_p.F3872F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3904	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GAGAGCTGGCGAAGTGGGAGC	0.577								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													35.0	36.0	36.0					8																	48691161		2017	4172	6189	SO:0001819	synonymous_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11709C>T	8.37:g.48691161G>A			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.F3903	ENST00000314191.2	37	c.11709		8																																																																																			PRKDC	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000253729		0.577	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		-	0.00	30	0	G	NM_001081640		48691161	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	silent	13.33	39	6	SNP	0.018	A
PRKDC	5591	genome.wustl.edu	37	8	48734354	48734354	+	Splice_Site	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:48734354C>A	ENST00000523565.1	-	65	8978		c.e65-1		PRKDC_ENST00000314191.2_Splice_Site|PRKDC_ENST00000338368.3_Splice_Site			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TATTGAGAGCCTAGTGGAGAA	0.388								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													40.0	39.0	39.0					8																	48734354		1828	4080	5908	SO:0001630	splice_region_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.4531-1G>T	8.37:g.48734354C>A			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Splice_Site	SNP	-	e66-1	ENST00000523565.1	37	c.8920-1		8	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879987	0.72294	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.73	0.91731	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKDC	48896907	1.000000	0.71417	0.976000	0.42696	0.661000	0.39034	7.445000	0.80570	2.497000	0.84241	0.650000	0.86243	.	PRKDC	-	-	ENSG00000253729		0.388	PRKDC-002	KNOWN	basic	processed_transcript	PRKDC	HGNC	protein_coding	OTTHUMT00000377896.1	-	0.00	54	0	C	NM_001081640	Intron	48734354	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	splice_site	25.97	57	20	SNP	1.000	A
PROB1	389333	genome.wustl.edu	37	5	138729809	138729809	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:138729809C>T	ENST00000434752.2	-	1	1076	c.962G>A	c.(961-963)cGc>cAc	p.R321H		NM_001161546.1	NP_001155018.1	E7EW31	PROB1_HUMAN	proline-rich basic protein 1	321																	CCGAATCGCGCGCTCGCGGAG	0.667																																																	0													13.0	21.0	19.0					5																	138729809		689	1589	2278	SO:0001583	missense	0			AK316483	CCDS54909.1	5q31.2	2012-10-01	2012-10-01	2012-10-01	ENSG00000228672	ENSG00000228672			41906	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 65"""	C5orf65			Standard	NM_001161546		Approved		uc011czc.1	E7EW31		ENST00000434752.2:c.962G>A	5.37:g.138729809C>T	ENSP00000416033:p.Arg321His		B4E007	Missense_Mutation	SNP	NULL	p.R321H	ENST00000434752.2	37	c.962	CCDS54909.1	5	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898165	0.91962	.	.	ENSG00000228672	ENST00000434752	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	T	0.66752	0.2821	L	0.36672	1.1	0.37707	D	0.924426	D	0.89917	1.0	D	0.81914	0.995	T	0.72064	-0.4403	8	0.56958	D	0.05	.	14.8837	0.70553	0.0:1.0:0.0:0.0	.	321	E7EW31	CE065_HUMAN	H	321	.	ENSP00000416033:R321H	R	-	2	0	AC135457.1	138757708	0.780000	0.28664	1.000000	0.80357	0.901000	0.52897	4.509000	0.60448	2.367000	0.80283	0.561000	0.74099	CGC	PROB1	-	NULL	ENSG00000228672		0.667	PROB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROB1	HGNC	protein_coding	OTTHUMT00000470735.1	-	0.00	71	0	C	NM_001161546		138729809	-1	tier1	-	no_errors	ENST00000434752	ensembl	human	known	74_37	missense	61.25	31	49	SNP	1.000	T
PRODH	5625	genome.wustl.edu	37	22	18918568	18918568	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:18918568G>A	ENST00000357068.6	-	2	682	c.417C>T	c.(415-417)agC>agT	p.S139S	PRODH_ENST00000334029.2_Silent_p.S31S|PRODH_ENST00000420436.1_Silent_p.S31S	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	139					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)	FAD binding (GO:0071949)|proline dehydrogenase activity (GO:0004657)			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	CCAGGATGGCGCTGACACCGA	0.597																																																	0													72.0	71.0	72.0					22																	18918568		2203	4300	6503	SO:0001819	synonymous_variant	0			AF010310	CCDS13754.1, CCDS56223.1	22q11.2	2014-07-10	2001-12-05		ENSG00000100033	ENSG00000100033	1.5.5.2		9453	protein-coding gene	gene with protein product		606810	"""proline dehydrogenase (proline oxidase )"""			9385373, 10192398	Standard	NM_001195226		Approved	HSPOX2, PRODH1, PIG6, PRODH2, TP53I6	uc002zok.4	O43272	OTTHUMG00000150163	ENST00000357068.6:c.417C>T	22.37:g.18918568G>A			A6NF53|O14680|Q0P507|Q147W8|Q504W1|Q59FI8|Q6NV86|Q9UF13	Silent	SNP	pfam_Proline_DH	p.S139	ENST00000357068.6	37	c.417	CCDS13754.1	22																																																																																			PRODH	-	NULL	ENSG00000100033		0.597	PRODH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH	HGNC	protein_coding	OTTHUMT00000316637.2	-	0.00	46	0	G	NM_016335		18918568	-1	tier1	-	no_errors	ENST00000357068	ensembl	human	known	74_37	silent	36.17	30	17	SNP	1.000	A
PROKR1	10887	genome.wustl.edu	37	2	68882356	68882356	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:68882356G>A	ENST00000303786.3	+	3	1250	c.830G>A	c.(829-831)cGc>cAc	p.R277H	PROKR1_ENST00000394342.2_Missense_Mutation_p.R277H			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	277					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AAGAGGCTGCGCTGCCGCAGG	0.622																																																	0													73.0	63.0	67.0					2																	68882356		2203	4300	6503	SO:0001583	missense	0			AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.830G>A	2.37:g.68882356G>A	ENSP00000303775:p.Arg277His		A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.R277H	ENST00000303786.3	37	c.830	CCDS1889.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945180	0.73672	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.41400	1.0;1.0	4.55	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47655	0.1457	M	0.75447	2.3	0.80722	D	1	P	0.48230	0.907	B	0.42851	0.4	T	0.57860	-0.7738	10	0.72032	D	0.01	.	15.6333	0.76929	0.0:0.0:1.0:0.0	.	277	Q8TCW9	PKR1_HUMAN	H	277	ENSP00000303775:R277H;ENSP00000377874:R277H	ENSP00000303775:R277H	R	+	2	0	PROKR1	68735860	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.091000	0.71406	2.816000	0.96949	0.563000	0.77884	CGC	PROKR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000169618		0.622	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROKR1	HGNC	protein_coding	OTTHUMT00000251760.2	-	0.00	59	0	G			68882356	+1	tier1	-	no_errors	ENST00000303786	ensembl	human	known	74_37	missense	42.59	31	23	SNP	1.000	A
PROM2	150696	genome.wustl.edu	37	2	95947697	95947697	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:95947697delC	ENST00000317620.9	+	13	1709	c.1576delC	c.(1576-1578)cccfs	p.P527fs	PROM2_ENST00000542147.1_Frame_Shift_Del_p.P527fs|PROM2_ENST00000317668.4_Frame_Shift_Del_p.P527fs|PROM2_ENST00000403131.2_Frame_Shift_Del_p.P527fs	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	527					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)	p.P526T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGGGAACCTGCCCCCGTCCAT	0.637																																																	1	Substitution - Missense(1)	kidney(1)											101.0	95.0	97.0					2																	95947697		2203	4300	6503	SO:0001589	frameshift_variant	0			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1576delC	2.37:g.95947697delC	ENSP00000318270:p.Pro527fs		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Frame_Shift_Del	DEL	pfam_Prominin	p.P527fs	ENST00000317620.9	37	c.1576	CCDS2012.1	2																																																																																			PROM2	-	pfam_Prominin	ENSG00000155066		0.637	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1		0.00	93	0	C	NM_144707		95947697	+1	tier1		no_errors	ENST00000317620	ensembl	human	known	74_37	frame_shift_del	16.67	30	6	DEL	0.998	-
PROSC	11212	genome.wustl.edu	37	8	37633479	37633479	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:37633479T>C	ENST00000328195.3	+	7	708	c.641T>C	c.(640-642)aTc>aCc	p.I214T		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	214					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	AAGCTGAACATCCCTGCTGAC	0.547																																																	0													205.0	195.0	199.0					8																	37633479		2203	4300	6503	SO:0001583	missense	0			AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"""proline synthetase co-transcribed (bacterial homolog)"""				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.641T>C	8.37:g.37633479T>C	ENSP00000333551:p.Ile214Thr		Q6FI94	Missense_Mutation	SNP	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001	p.I214T	ENST00000328195.3	37	c.641	CCDS6096.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.933|9.933	1.215435|1.215435	0.22373|0.22373	.|.	.|.	ENSG00000147471|ENSG00000147471	ENST00000328195|ENST00000521494	T|.	0.42513|.	0.97|.	5.97|5.97	4.82|4.82	0.62117|0.62117	Alanine racemase, N-terminal (1);|.	1.196900|.	0.05651|.	N|.	0.585125|.	T|T	0.60663|0.60663	0.2286|0.2286	L|L	0.52573|0.52573	1.65|1.65	0.80722|0.80722	D|D	1|1	B|.	0.12630|.	0.006|.	B|.	0.19946|.	0.027|.	T|T	0.57266|0.57266	-0.7841|-0.7841	10|5	0.66056|.	D|.	0.02|.	.|.	11.775|11.775	0.51981|0.51981	0.0:0.0692:0.0:0.9308|0.0:0.0692:0.0:0.9308	.|.	214|.	O94903|.	PROSC_HUMAN|.	T|P	214|183	ENSP00000333551:I214T|.	ENSP00000333551:I214T|.	I|S	+|+	2|1	0|0	PROSC|PROSC	37752637|37752637	0.918000|0.918000	0.31147|0.31147	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	6.036000|6.036000	0.70948|0.70948	1.084000|1.084000	0.41184|0.41184	0.533000|0.533000	0.62120|0.62120	ATC|TCC	PROSC	-	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001	ENSG00000147471		0.547	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSC	HGNC	protein_coding	OTTHUMT00000376796.1	-	0.00	79	0	T	NM_007198		37633479	+1	tier1	-	no_errors	ENST00000328195	ensembl	human	known	74_37	missense	5.95	79	5	SNP	0.074	C
PROSER1	80209	genome.wustl.edu	37	13	39586344	39586344	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:39586344C>A	ENST00000352251.3	-	12	3421	c.2588G>T	c.(2587-2589)gGc>gTc	p.G863V	PROSER1_ENST00000350125.3_Missense_Mutation_p.G841V|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	863																	AACAGAACTGCCTGCAGCTTG	0.408																																																	0													129.0	146.0	140.0					13																	39586344		2203	4300	6503	SO:0001583	missense	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2588G>T	13.37:g.39586344C>A	ENSP00000332034:p.Gly863Val		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	NULL	p.G863V	ENST00000352251.3	37	c.2588	CCDS9368.2	13	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987293	0.74589	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.52754	0.65;0.65	5.96	5.96	0.96718	.	.	.	.	.	T	0.44159	0.1280	N	0.24115	0.695	0.80722	D	1	D;P	0.55800	0.973;0.928	P;B	0.53313	0.723;0.44	T	0.20405	-1.0276	8	.	.	.	-0.454	11.3058	0.49334	0.0:0.9174:0.0:0.0826	.	841;863	A6NJ97;Q86XN7	.;PRSR1_HUMAN	V	863;841	ENSP00000332034:G863V;ENSP00000339123:G841V	.	G	-	2	0	PROSER1	38484344	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.849000	0.69465	2.821000	0.97095	0.650000	0.86243	GGC	PROSER1	-	NULL	ENSG00000120685		0.408	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	-	0.00	19	0	C	NM_025138		39586344	-1	tier1	-	no_errors	ENST00000352251	ensembl	human	known	74_37	missense	41.86	25	18	SNP	1.000	A
PROZ	8858	genome.wustl.edu	37	13	113826331	113826331	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:113826331G>T	ENST00000375547.2	+	8	1122	c.1115G>T	c.(1114-1116)gGc>gTc	p.G372V	PROZ_ENST00000342783.4_Missense_Mutation_p.G394V	NM_003891.2	NP_003882.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	372	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GGGGTCCTGGGCTCGCAGCCA	0.552																																																	0													35.0	32.0	33.0					13																	113826331		2202	4296	6498	SO:0001583	missense	0			M55670	CCDS9531.1, CCDS58300.1	13q34	2008-07-18			ENSG00000126231	ENSG00000126231			9460	protein-coding gene	gene with protein product		176895				2244898, 2403355	Standard	NM_001256134		Approved	PZ	uc010agr.2	P22891	OTTHUMG00000017376	ENST00000375547.2:c.1115G>T	13.37:g.113826331G>T	ENSP00000364697:p.Gly372Val		A6NMB4|Q15213|Q5JVF5|Q5JVF6	Missense_Mutation	SNP	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Peptidase_S1,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1	p.G372V	ENST00000375547.2	37	c.1115	CCDS9531.1	13	.	.	.	.	.	.	.	.	.	.	G	10.35	1.324940	0.24080	.	.	ENSG00000126231	ENST00000375547;ENST00000342783	D;D	0.92595	-3.07;-3.07	3.96	-2.05	0.07321	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.604913	0.18387	N	0.142787	D	0.87309	0.6145	L	0.36672	1.1	0.25645	N	0.986152	P;P	0.37061	0.58;0.526	P;B	0.44647	0.456;0.253	T	0.80487	-0.1361	10	0.87932	D	0	.	5.8114	0.18467	0.3109:0.2467:0.4425:0.0	.	394;372	P22891-2;P22891	.;PROZ_HUMAN	V	372;394	ENSP00000364697:G372V;ENSP00000344458:G394V	ENSP00000344458:G394V	G	+	2	0	PROZ	112874332	0.001000	0.12720	0.000000	0.03702	0.020000	0.10135	0.973000	0.29422	-0.122000	0.11766	0.313000	0.20887	GGC	PROZ	-	pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000126231		0.552	PROZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PROZ	HGNC	protein_coding	OTTHUMT00000045845.1		0.00	65	0	G	NM_003891		113826331	+1			no_errors	ENST00000375547	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.000	T
PRR12	57479	genome.wustl.edu	37	19	50119416	50119416	+	Frame_Shift_Del	DEL	G	G	-	rs575045686	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:50119416delG	ENST00000418929.2	+	9	5449	c.5437delG	c.(5437-5439)gggfs	p.G1814fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	993							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TACAGCAGGCGGGGGCCCACC	0.687																																																	0													9.0	13.0	11.0					19																	50119416		2027	4141	6168	SO:0001589	frameshift_variant	0			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.5437delG	19.37:g.50119416delG	ENSP00000394510:p.Gly1814fs		E9PB06|Q8N4J6	Frame_Shift_Del	DEL	NULL	p.G1814fs	ENST00000418929.2	37	c.5437	CCDS46143.1	19																																																																																			PRR12	-	NULL	ENSG00000126464		0.687	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1		0.00	64	0	G	NM_020719		50119416	+1	tier1		no_errors	ENST00000418929	ensembl	human	novel	74_37	frame_shift_del	47.37	30	27	DEL	0.759	-
PRR14	78994	genome.wustl.edu	37	16	30664143	30664143	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:30664143C>T	ENST00000542965.2	+	3	750	c.294C>T	c.(292-294)gcC>gcT	p.A98A	PRR14_ENST00000300835.4_Silent_p.A98A			Q9BWN1	PRR14_HUMAN	proline rich 14	98	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCCGGCAGGCCGGGTGGTCCT	0.647																																																	0													31.0	33.0	32.0					16																	30664143		2196	4298	6494	SO:0001819	synonymous_variant	0			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.294C>T	16.37:g.30664143C>T			Q8WTX2	Silent	SNP	NULL	p.A98	ENST00000542965.2	37	c.294	CCDS10687.1	16																																																																																			PRR14	-	NULL	ENSG00000156858		0.647	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR14	HGNC	protein_coding	OTTHUMT00000434433.1	-	0.00	115	0	C	NM_024031		30664143	+1	tier1	-	no_errors	ENST00000300835	ensembl	human	known	74_37	silent	35.06	50	27	SNP	0.000	T
PRR15	222171	genome.wustl.edu	37	7	29606191	29606191	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:29606191C>T	ENST00000319694.2	+	2	958	c.246C>T	c.(244-246)tcC>tcT	p.S82S	AC007255.8_ENST00000450540.2_RNA|AC007255.8_ENST00000447171.1_RNA	NM_175887.2	NP_787083.1	Q8IV56	PRR15_HUMAN	proline rich 15	82					multicellular organismal development (GO:0007275)					endometrium(1)|lung(1)|skin(1)	3						GGGACAAATCCGGCAGCAGCC	0.672																																																	0													7.0	9.0	8.0					7																	29606191		2173	4256	6429	SO:0001819	synonymous_variant	0			BC029131	CCDS5421.1	7p15.1	2006-08-21			ENSG00000176532	ENSG00000176532			22310	protein-coding gene	gene with protein product						12477932	Standard	NM_175887		Approved		uc003tac.1	Q8IV56	OTTHUMG00000128555	ENST00000319694.2:c.246C>T	7.37:g.29606191C>T				Silent	SNP	NULL	p.S82	ENST00000319694.2	37	c.246	CCDS5421.1	7																																																																																			PRR15	-	NULL	ENSG00000176532		0.672	PRR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR15	HGNC	protein_coding	OTTHUMT00000250402.2	-	0.00	25	0	C	NM_175887		29606191	+1	tier1	-	no_errors	ENST00000319694	ensembl	human	known	74_37	silent	39.29	17	11	SNP	0.000	T
PRR23A	729627	genome.wustl.edu	37	3	138724365	138724365	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:138724365G>A	ENST00000383163.2	-	1	745	c.746C>T	c.(745-747)cCg>cTg	p.P249L	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	249	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						CGGGAGCGGCGGGTGCGCGTG	0.652																																																	0													12.0	13.0	13.0					3																	138724365		692	1591	2283	SO:0001583	missense	0				CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.746C>T	3.37:g.138724365G>A	ENSP00000372649:p.Pro249Leu			Missense_Mutation	SNP	pfam_UPF0572	p.P249L	ENST00000383163.2	37	c.746	CCDS46923.1	3	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467154	0.26335	.	.	ENSG00000206260	ENST00000383163	.	.	.	3.09	1.27	0.21489	.	0.158142	0.30302	N	0.009924	T	0.28333	0.0700	M	0.66939	2.045	0.09310	N	1	P	0.45902	0.868	B	0.37091	0.241	T	0.29212	-1.0019	9	0.87932	D	0	.	4.4714	0.11714	0.1311:0.2306:0.6383:0.0	.	249	A6NEV1	PR23A_HUMAN	L	249	.	ENSP00000372649:P249L	P	-	2	0	PRR23A	140207055	0.124000	0.22315	0.009000	0.14445	0.005000	0.04900	1.122000	0.31295	0.349000	0.23975	-0.440000	0.05779	CCG	PRR23A	-	pfam_UPF0572	ENSG00000206260		0.652	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23A	HGNC	protein_coding	OTTHUMT00000361503.1	-	0.00	48	0	G	NM_001134659		138724365	-1	tier1	-	no_errors	ENST00000383163	ensembl	human	known	74_37	missense	57.89	24	33	SNP	0.009	A
PRR5L	79899	genome.wustl.edu	37	11	36397656	36397656	+	5'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:36397656delT	ENST00000378867.3	+	0	102				PRR5L_ENST00000311599.5_5'UTR|PRR5L_ENST00000530639.1_Intron|PRR5L_ENST00000389693.3_3'UTR	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like						negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						TCCTCGGCAATTTTTTTTTTT	0.562																																																	0									,,	154,132,1704		20,3,111,20,89,752	22.0	24.0	23.0		,,	-0.2	0.0	11		24	339,177,3566		31,0,277,31,115,1587	no	utr-5,utr-5,intron	PRR5L	NM_024841.4,NM_001160168.1,NM_001160167.1	,,	51,3,388,51,204,2339	A1A1,A1A2,A1R,A2A2,A2R,RR		12.6409,14.3719,13.2082	,,	,,	36397656	493,309,5270	692	1591	2283	SO:0001623	5_prime_UTR_variant	0				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.-254T>-	11.37:g.36397656delT			A4QN22|E9PKY1|Q96H46|Q9H7V4	RNA	DEL	-	NULL	ENST00000378867.3	37	NULL	CCDS31463.1	11																																																																																			PRR5L	-	-	ENSG00000135362		0.562	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR5L	HGNC	protein_coding	OTTHUMT00000389209.1		0.00	47	0	T	NM_024841		36397656	+1	tier1		no_errors	ENST00000389693	ensembl	human	known	74_37	rna	36.67	38	22	DEL	0.023	-
PRRC2C	23215	genome.wustl.edu	37	1	171514769	171514769	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:171514769delA	ENST00000338920.4	+	17	5146	c.4909delA	c.(4909-4911)aaafs	p.K1638fs	PRRC2C_ENST00000367742.3_Frame_Shift_Del_p.K1640fs|PRRC2C_ENST00000426496.2_Frame_Shift_Del_p.K1638fs|PRRC2C_ENST00000392078.3_Frame_Shift_Del_p.K1640fs	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1638					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										ACCAGGCCCTAAAAAACCAAA	0.363																																																	0													61.0	62.0	62.0					1																	171514769		2203	4300	6503	SO:0001589	frameshift_variant	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.4909delA	1.37:g.171514769delA	ENSP00000343629:p.Lys1638fs		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Frame_Shift_Del	DEL	pfam_BAT2_N	p.K1640fs	ENST00000338920.4	37	c.4915	CCDS1296.2	1																																																																																			PRRC2C	-	NULL	ENSG00000117523		0.363	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4		0.00	34	0	A	NM_015172		171514769	+1	tier1		no_errors	ENST00000392078	ensembl	human	known	74_37	frame_shift_del	22.64	41	12	DEL	1.000	-
PRRT2	112476	genome.wustl.edu	37	16	29825042	29825042	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:29825042G>A	ENST00000358758.7	+	2	950	c.667G>A	c.(667-669)Gtt>Att	p.V223I	PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000300797.6_Missense_Mutation_p.V223I|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567659.1_Missense_Mutation_p.V223I|AC009133.14_ENST00000569981.1_RNA|PRRT2_ENST00000567551.1_3'UTR|AC009133.20_ENST00000569039.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	223					neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						GCAGCAGCTGGTTGAGGAGGA	0.647																																																	0													16.0	17.0	17.0					16																	29825042		2196	4298	6494	SO:0001583	missense	0			BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.667G>A	16.37:g.29825042G>A	ENSP00000351608:p.Val223Ile		A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.V223I	ENST00000358758.7	37	c.667	CCDS10654.1	16	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726411	0.48833	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.71934	-0.61;0.36	3.9	3.9	0.45041	.	0.000000	0.43260	D	0.000591	T	0.64768	0.2628	N	0.24115	0.695	0.26792	N	0.969389	P;P;P	0.49783	0.928;0.787;0.865	P;B;P	0.53102	0.718;0.446;0.648	T	0.57423	-0.7814	10	0.42905	T	0.14	-6.532	9.782	0.40653	0.0:0.2106:0.7894:0.0	.	223;223;223	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	I	223	ENSP00000351608:V223I;ENSP00000300797:V223I	ENSP00000300797:V223I	V	+	1	0	PRRT2	29732543	0.986000	0.35501	1.000000	0.80357	0.981000	0.71138	2.304000	0.43655	2.190000	0.69967	0.563000	0.77884	GTT	PRRT2	-	NULL	ENSG00000167371		0.647	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT2	HGNC	protein_coding	OTTHUMT00000255161.3	-	0.00	46	0	G	NM_145239		29825042	+1	tier1	-	no_errors	ENST00000567659	ensembl	human	known	74_37	missense	31.11	31	14	SNP	1.000	A
PRSS3	5646	genome.wustl.edu	37	9	33794798	33794799	+	Intron	DEL	GA	GA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:33794798_33794799delGA	ENST00000361005.5	+	2	211				PRSS3_ENST00000379405.3_5'Flank|PRSS3_ENST00000429677.3_Intron|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Frame_Shift_Del_p.R4fs	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GGATGCACATGAGAGAGACAAG	0.515																																																	0																																										SO:0001627	intron_variant	0				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.212-1842GA>-	9.37:g.33794804_33794805delGA			A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Frame_Shift_Del	DEL	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.E5fs	ENST00000361005.5	37	c.9_10	CCDS47958.1	9																																																																																			PRSS3	-	NULL	ENSG00000010438		0.515	PRSS3-003	KNOWN	basic|CCDS	protein_coding	PRSS3	HGNC	protein_coding	OTTHUMT00000052121.1		0.00	30	0	GA	NM_002771		33794799	+1	tier1		no_errors	ENST00000342836	ensembl	human	known	74_37	frame_shift_del	12.50	28	4	DEL	0.000:0.001	-
PRSS36	146547	genome.wustl.edu	37	16	31154684	31154684	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:31154684G>A	ENST00000268281.4	-	8	1137	c.1079C>T	c.(1078-1080)gCa>gTa	p.A360V	PRSS36_ENST00000418068.2_Missense_Mutation_p.A360V|PRSS36_ENST00000569305.1_Missense_Mutation_p.A360V	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	360	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GCTGGCAGGTGCCAAGACCCA	0.632																																																	0													44.0	52.0	49.0					16																	31154684		2197	4300	6497	SO:0001583	missense	0			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.1079C>T	16.37:g.31154684G>A	ENSP00000268281:p.Ala360Val		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.A360V	ENST00000268281.4	37	c.1079	CCDS32436.1	16	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737185	0.49045	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	T;T	0.29142	1.58;1.58	4.26	2.24	0.28232	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.22781	0.0550	L	0.27053	0.805	0.28234	N	0.92597	B;P;P	0.36199	0.025;0.543;0.543	B;B;B	0.39660	0.022;0.306;0.306	T	0.15378	-1.0439	9	0.56958	D	0.05	.	6.8248	0.23876	0.2204:0.0:0.7796:0.0	.	360;360;360	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	V	360	ENSP00000268281:A360V;ENSP00000407160:A360V	ENSP00000268281:A360V	A	-	2	0	PRSS36	31062185	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.026000	0.41069	1.004000	0.39156	0.491000	0.48974	GCA	PRSS36	-	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000178226		0.632	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS36	HGNC	protein_coding	OTTHUMT00000433542.1	-	0.00	81	0	G	NM_173502		31154684	-1	tier1	-	no_errors	ENST00000268281	ensembl	human	known	74_37	missense	47.17	28	25	SNP	0.992	A
PRX	57716	genome.wustl.edu	37	19	40901307	40901307	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:40901307G>A	ENST00000324001.7	-	7	3222	c.2952C>T	c.(2950-2952)ggC>ggT	p.G984G	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	984					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGGCAGCAGGCCTGCCTCCC	0.637																																																	0													43.0	51.0	48.0					19																	40901307		2203	4300	6503	SO:0001819	synonymous_variant	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2952C>T	19.37:g.40901307G>A			Q9BXL9|Q9HCF2	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G984	ENST00000324001.7	37	c.2952	CCDS33028.1	19																																																																																			PRX	-	NULL	ENSG00000105227		0.637	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	-	0.00	43	0	G	NM_020956		40901307	-1	tier1	-	no_errors	ENST00000324001	ensembl	human	known	74_37	silent	50.00	11	11	SNP	0.032	A
PSD3	23362	genome.wustl.edu	37	8	18490296	18490297	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:18490296_18490297delTT	ENST00000327040.8	-	11	2338_2339	c.2236_2237delAA	c.(2236-2238)aagfs	p.K746fs	PSD3_ENST00000286485.8_Frame_Shift_Del_p.K212fs|PSD3_ENST00000428502.2_Frame_Shift_Del_p.K75fs|PSD3_ENST00000523619.1_Frame_Shift_Del_p.K681fs|PSD3_ENST00000440756.2_Frame_Shift_Del_p.K748fs	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	747					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TGAGGGAGACTTTTTTTTCTCT	0.361																																																	0																																										SO:0001589	frameshift_variant	0			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2236_2237delAA	8.37:g.18490302_18490303delTT	ENSP00000324127:p.Lys746fs		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Frame_Shift_Del	DEL	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.K748fs	ENST00000327040.8	37	c.2243_2242	CCDS43720.1	8																																																																																			PSD3	-	NULL	ENSG00000156011		0.361	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSD3	HGNC	protein_coding	OTTHUMT00000374867.1		0.00	64	0	TT	NM_015310		18490297	-1	tier1		no_errors	ENST00000440756	ensembl	human	known	74_37	frame_shift_del	17.21	101	21	DEL	1.000:1.000	-
PSD4	23550	genome.wustl.edu	37	2	113955413	113955413	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:113955413C>T	ENST00000245796.6	+	14	2742	c.2547C>T	c.(2545-2547)ccC>ccT	p.P849P	PSD4_ENST00000441564.3_Silent_p.P820P	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	849	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGCCACCCCCGCCACGCATT	0.647																																																	0													32.0	33.0	32.0					2																	113955413		2203	4300	6503	SO:0001819	synonymous_variant	0			U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2547C>T	2.37:g.113955413C>T			A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.P849	ENST00000245796.6	37	c.2547	CCDS33276.1	2																																																																																			PSD4	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type	ENSG00000125637		0.647	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSD4	HGNC	protein_coding	OTTHUMT00000330789.1	-	0.00	38	0	C	NM_012455		113955413	+1	tier1	-	no_errors	ENST00000245796	ensembl	human	known	74_37	silent	41.94	18	13	SNP	0.017	T
PSENEN	55851	genome.wustl.edu	37	19	36237526	36237526	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:36237526C>T	ENST00000587708.2	+	4	849				AC002398.9_ENST00000591613.2_Intron|LIN37_ENST00000301159.9_5'Flank|AC002398.11_ENST00000585365.1_RNA|PSENEN_ENST00000591949.1_Silent_p.L90L|PSENEN_ENST00000222266.2_Intron|U2AF1L4_ENST00000588100.1_5'Flank|AC002398.11_ENST00000591091.1_RNA|U2AF1L4_ENST00000292879.5_5'Flank|AD000671.6_ENST00000589807.1_5'Flank|U2AF1L4_ENST00000412391.2_5'Flank|U2AF1L4_ENST00000378975.3_5'Flank			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit						amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGTTGGGGCTCTGGGTGAGAA	0.592																																																	0																																										SO:0001627	intron_variant	0			AF220053	CCDS12474.1	19q13.12	2014-09-17	2013-09-12			ENSG00000205155			30100	protein-coding gene	gene with protein product		607632	"""presenilin enhancer 2 homolog (C. elegans)"""			12110170, 12660785	Standard	NM_172341		Approved	PEN2	uc002obi.1	Q9NZ42		ENST00000587708.2:c.167-83C>T	19.37:g.36237526C>T			B2R5L9	Silent	SNP	pfam_Gamma_Secretase_Asp_P_PEN2	p.L90	ENST00000587708.2	37	c.268	CCDS12474.1	19																																																																																			PSENEN	-	NULL	ENSG00000205155		0.592	PSENEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSENEN	HGNC	protein_coding	OTTHUMT00000459101.2	-	0.00	51	0	C	NM_172341		36237526	+1	tier1	-	no_errors	ENST00000591949	ensembl	human	putative	74_37	silent	40.74	32	22	SNP	0.000	T
PSMB9	5698	genome.wustl.edu	37	6	32827216	32827216	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:32827216C>T	ENST00000374859.2	+	6	636	c.567C>T	c.(565-567)agC>agT	p.S189S	PSMB9_ENST00000395330.1_Silent_p.S166S	NM_002800.4	NP_002791.1	P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	189					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			large_intestine(4)|lung(4)|skin(1)	9					Carfilzomib(DB08889)	ATGGCTCAAGCGGGGGTGTCA	0.498																																																	0													202.0	209.0	207.0					6																	32827216		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4759.1	6p21.3	2013-03-27	2013-03-27		ENSG00000240065	ENSG00000240065		"""Proteasome (prosome, macropain) subunits"""	9546	protein-coding gene	gene with protein product		177045	"""proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2)"", ""large multifunctional peptidase 2"""	LMP2		1922385, 1529427	Standard	NM_002800		Approved	RING12, beta1i, PSMB6i	uc003sga.3	P28065	OTTHUMG00000031287	ENST00000374859.2:c.567C>T	6.37:g.32827216C>T			B0V0T1|Q16523|Q5JNW4	Silent	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.S189	ENST00000374859.2	37	c.567	CCDS4759.1	6																																																																																			PSMB9	-	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	ENSG00000240065		0.498	PSMB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB9	HGNC	protein_coding	OTTHUMT00000076624.5	-	0.00	57	0	C	NM_002800		32827216	+1	tier1	-	no_errors	ENST00000374859	ensembl	human	known	74_37	silent	77.78	14	49	SNP	0.998	T
PSMC4	5704	genome.wustl.edu	37	19	40480653	40480654	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:40480653_40480654insCC	ENST00000157812.2	+	6	789_790	c.591_592insCC	c.(592-594)cccfs	p.P198fs	PSMC4_ENST00000455878.2_Frame_Shift_Ins_p.P167fs	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	198					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|blastocyst development (GO:0001824)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|inclusion body (GO:0016234)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGGCATCGATCCCCCCCGAGG	0.614																																					Colon(105;1478 1543 4034 6132 38638)												0																																										SO:0001589	frameshift_variant	0			U27515	CCDS12547.1, CCDS46076.1	19q13.11-q13.13	2010-04-21			ENSG00000013275	ENSG00000013275		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9551	protein-coding gene	gene with protein product	"""protease 26S subunit 6"", ""Tat-binding protein 7"", ""MB67 interacting protein"""	602707		MIP224		9473509, 8603043	Standard	NM_006503		Approved	TBP7, S6, MGC8570, MGC13687, MGC23214, TBP-7	uc002omq.4	P43686		ENST00000157812.2:c.596_597dupCC	19.37:g.40480658_40480659dupCC	ENSP00000157812:p.Pro198fs		Q96FV5|Q9UBM3|Q9UEX3	Frame_Shift_Ins	INS	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.R199fs	ENST00000157812.2	37	c.591_592	CCDS12547.1	19																																																																																			PSMC4	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	ENSG00000013275		0.614	PSMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC4	HGNC	protein_coding	OTTHUMT00000462485.1		0.00	31	0	-	NM_006503		40480654	+1	tier1		no_errors	ENST00000157812	ensembl	human	known	74_37	frame_shift_ins	18.18	27	6	INS	0.585:0.996	CC
PSMD1	5707	genome.wustl.edu	37	2	231943429	231943429	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:231943429G>T	ENST00000308696.6	+	10	1290	c.1128G>T	c.(1126-1128)atG>atT	p.M376I	PSMD1_ENST00000409643.1_Missense_Mutation_p.M376I|PSMD1_ENST00000373635.4_Missense_Mutation_p.M376I	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	376					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	ACTCTTTTATGCACTGTGGGA	0.323																																																	0													122.0	119.0	120.0					2																	231943429		2203	4300	6503	SO:0001583	missense	0			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1128G>T	2.37:g.231943429G>T	ENSP00000309474:p.Met376Ile		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.M376I	ENST00000308696.6	37	c.1128	CCDS2482.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.187231	0.94923	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.79	5.79	0.91817	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80994	0.4731	M	0.93106	3.38	0.80722	D	1	D;P	0.56035	0.974;0.928	P;P	0.48089	0.566;0.547	D	0.85467	0.1170	9	0.62326	D	0.03	-19.2855	20.0349	0.97554	0.0:0.0:1.0:0.0	.	376;376	Q99460;Q99460-2	PSMD1_HUMAN;.	I	376	.	ENSP00000309474:M376I	M	+	3	0	PSMD1	231651673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.744000	0.98853	2.741000	0.93983	0.585000	0.79938	ATG	PSMD1	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	ENSG00000173692		0.323	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	HGNC	protein_coding	OTTHUMT00000256958.2	-	0.00	84	0	G			231943429	+1	tier1	-	no_errors	ENST00000308696	ensembl	human	known	74_37	missense	5.21	91	5	SNP	1.000	T
PSMD6	9861	genome.wustl.edu	37	3	64008326	64008326	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:64008326C>T	ENST00000295901.4	-	2	286				PSMD6_ENST00000394431.2_Intron|PSMD6_ENST00000482510.1_Intron|RP11-245J9.6_ENST00000605919.1_RNA|PSMD6_ENST00000492933.1_Missense_Mutation_p.M99I	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		AACAGGAAGGCATGCGATGGC	0.552																																																	0																																										SO:0001627	intron_variant	0			AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.146-127G>A	3.37:g.64008326C>T			A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.M99I	ENST00000295901.4	37	c.297	CCDS2901.1	3	.	.	.	.	.	.	.	.	.	.	C	7.434	0.639390	0.14386	.	.	ENSG00000163636	ENST00000492933;ENST00000497323	.	.	.	2.97	-5.94	0.02247	.	.	.	.	.	T	0.23054	0.0557	.	.	.	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.12344	-1.0551	7	0.40728	T	0.16	.	3.3599	0.07182	0.1689:0.2752:0.4364:0.1195	.	99	C9IZE4	.	I	99;60	.	ENSP00000418695:M99I	M	-	3	0	PSMD6	63983366	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.688000	0.00832	-2.255000	0.00696	-1.149000	0.01842	ATG	PSMD6	-	NULL	ENSG00000163636		0.552	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD6	HGNC	protein_coding	OTTHUMT00000352082.1	-	0.00	49	0	C	NM_014814		64008326	-1	tier1	-	no_errors	ENST00000492933	ensembl	human	novel	74_37	missense	41.94	18	13	SNP	0.000	T
PSME4	23198	genome.wustl.edu	37	2	54092486	54092487	+	3'UTR	DEL	AA	AA	-	rs398080264|rs56006630	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:54092486_54092487delAA	ENST00000404125.1	-	0	5815_5816				PSME4_ENST00000421748.2_3'UTR|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CAGATGCCTCAAAAAAAAAAAG	0.396																																																	0																																										SO:0001624	3_prime_UTR_variant	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.*229TT>-	2.37:g.54092494_54092495delAA			Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	RNA	DEL	-	NULL	ENST00000404125.1	37	NULL	CCDS33197.2	2																																																																																			PSME4	-	-	ENSG00000068878		0.396	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1		0.00	29	0	AA	XM_040158		54092487	-1	tier1		no_errors	ENST00000476586	ensembl	human	known	74_37	rna	29.63	19	8	DEL	0.998:0.999	-
PSORS1C1	170679	genome.wustl.edu	37	6	31107581	31107581	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:31107581C>T	ENST00000259881.9	+	6	620	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	PSORS1C2_ENST00000259845.4_5'Flank|PSORS1C1_ENST00000547221.1_Missense_Mutation_p.L63F|PSORS1C1_ENST00000481450.2_Missense_Mutation_p.L48F	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	111										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						AGCTGCCAGGCTCCAGCAACC	0.567																																																	0													182.0	152.0	162.0					6																	31107581		1511	2709	4220	SO:0001583	missense	0			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.331C>T	6.37:g.31107581C>T	ENSP00000259881:p.Leu111Phe		B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Missense_Mutation	SNP	NULL	p.L111F	ENST00000259881.9	37	c.331	CCDS34390.1	6	.	.	.	.	.	.	.	.	.	.	C	8.734	0.917381	0.17982	.	.	ENSG00000204540	ENST00000259881;ENST00000547221;ENST00000481450	T;T;T	0.16196	2.36;2.36;2.36	1.38	1.38	0.22167	.	.	.	.	.	T	0.08891	0.0220	N	0.08118	0	0.09310	N	1	D;D	0.76494	0.999;0.997	D;D	0.76575	0.988;0.988	T	0.17228	-1.0376	9	0.87932	D	0	.	6.1894	0.20516	0.0:1.0:0.0:0.0	.	60;111	Q9UIG5-2;Q9UIG5	.;PS1C1_HUMAN	F	111;63;48	ENSP00000259881:L111F;ENSP00000449471:L63F;ENSP00000447158:L48F	ENSP00000259881:L111F	L	+	1	0	PSORS1C1	31215560	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	-0.469000	0.06648	1.099000	0.41499	0.549000	0.68633	CTC	PSORS1C1	-	NULL	ENSG00000204540		0.567	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSORS1C1	HGNC	protein_coding	OTTHUMT00000076110.3	-	0.00	89	0	C	NM_014068		31107581	+1	tier1	-	no_errors	ENST00000259881	ensembl	human	known	74_37	missense	40.43	56	38	SNP	0.007	T
PSPH	5723	genome.wustl.edu	37	7	56079283	56079286	+	3'UTR	DEL	AAAA	AAAA	-	rs71015155		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:56079283_56079286delAAAA	ENST00000395471.3	-	0	1652_1655				PSPH_ENST00000275605.3_3'UTR|PSPH_ENST00000459834.1_5'UTR			P78330	SERB_HUMAN	phosphoserine phosphatase						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AACTACAGTTAAAAAAAAAAAAAA	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	0			Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.*172TTTT>-	7.37:g.56079291_56079294delAAAA			B2RCR5|Q7Z3S5	RNA	DEL	-	NULL	ENST00000395471.3	37	NULL	CCDS5522.1	7																																																																																			PSPH	-	-	ENSG00000146733		0.343	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PSPH	HGNC	protein_coding	OTTHUMT00000343304.1		0.00	24	0	AAAA	NM_004577		56079286	-1	tier1		no_errors	ENST00000459834	ensembl	human	known	74_37	rna	31.25	11	5	DEL	0.001:0.001:0.001:0.001	-
PSPH	5723	genome.wustl.edu	37	7	56087302	56087302	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:56087302G>T	ENST00000395471.3	-	5	1071	c.266C>A	c.(265-267)cCc>cAc	p.P89H	PSPH_ENST00000275605.3_Missense_Mutation_p.P89H|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	89					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCTTATGCCGGGGGTCAGGTG	0.572																																																	0													49.0	43.0	45.0					7																	56087302		2203	4300	6503	SO:0001583	missense	0			Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.266C>A	7.37:g.56087302G>T	ENSP00000378854:p.Pro89His		B2RCR5|Q7Z3S5	Missense_Mutation	SNP	pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like	p.P89H	ENST00000395471.3	37	c.266	CCDS5522.1	7	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258987	0.39896	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.86865	-2.18;-2.18;-2.18	5.03	5.03	0.67393	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.109437	0.64402	D	0.000005	D	0.89354	0.6691	M	0.89785	3.06	0.58432	D	0.999996	B;B	0.30937	0.301;0.1	B;B	0.32762	0.152;0.105	D	0.89921	0.4059	10	0.87932	D	0	-11.5348	12.451	0.55677	0.0:0.0:0.8325:0.1674	.	89;89	Q53EY1;P78330	.;SERB_HUMAN	H	89	ENSP00000275605:P89H;ENSP00000378854:P89H;ENSP00000398653:P89H	ENSP00000275605:P89H	P	-	2	0	PSPH	56054796	1.000000	0.71417	0.926000	0.36857	0.233000	0.25261	6.034000	0.70933	2.337000	0.79520	0.591000	0.81541	CCC	PSPH	-	pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like	ENSG00000146733		0.572	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PSPH	HGNC	protein_coding	OTTHUMT00000343304.1	-	0.00	60	0	G	NM_004577		56087302	-1	tier1	-	no_errors	ENST00000275605	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.996	T
PSTPIP1	9051	genome.wustl.edu	37	15	77310871	77310874	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAGT	AAGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:77310871_77310874delAAGT	ENST00000558012.1	+	3	700_701	c.211_212delAAGT	c.(211-213)aag>g	p.K71fs	PSTPIP1_ENST00000267939.5_Splice_Site_p.K70fs|PSTPIP1_ENST00000559295.1_Splice_Site_p.K71fs|PSTPIP1_ENST00000379595.3_Splice_Site_p.K71fs	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	71	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GACGGAGATCAAGTAAGATCTCCC	0.593																																																	0																																										SO:0001630	splice_region_variant	0			U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"""CD2 cytoplasmic tail-binding protein"", ""CD2 antigen-binding protein 1"", ""PEST phosphatase-interacting protein 1"""	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.212+1AAGT>-	15.37:g.77310871_77310874delAAGT			B5BU74|B5BUK4|O43585|O95657	Frame_Shift_Del	DEL	pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom	p.N136fs	ENST00000558012.1	37	c.406_407	CCDS45312.1	15																																																																																			PSTPIP1	-	pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom	ENSG00000140368		0.593	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTPIP1	HGNC	protein_coding	OTTHUMT00000419373.2		0.00	42	0	AAGT	NM_003978	Frame_Shift_Del	77310874	+1	tier1		no_errors	ENST00000559785	ensembl	human	known	74_37	frame_shift_del	25.71	26	9	DEL	1.000:1.000	-
PTCH1	5727	genome.wustl.edu	37	9	98209585	98209585	+	Missense_Mutation	SNP	G	G	A	rs536440590		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:98209585G>A	ENST00000331920.6	-	23	4252	c.3953C>T	c.(3952-3954)cCg>cTg	p.P1318L	PTCH1_ENST00000429896.2_Missense_Mutation_p.P1167L|PTCH1_ENST00000375274.2_Missense_Mutation_p.P1317L|PTCH1_ENST00000418258.1_Missense_Mutation_p.P1167L|PTCH1_ENST00000421141.1_Missense_Mutation_p.P1167L|PTCH1_ENST00000430669.2_Missense_Mutation_p.P1252L|PTCH1_ENST00000437951.1_Missense_Mutation_p.P1252L	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1318					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTCTCTGCGCGGTCTGTAGGG	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		14655	0.0		0.0	False		,,,				2504	0.001																0													36.0	45.0	42.0					9																	98209585		2103	4139	6242	SO:0001583	missense	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3953C>T	9.37:g.98209585G>A	ENSP00000332353:p.Pro1318Leu		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.P1318L	ENST00000331920.6	37	c.3953	CCDS6714.1	9	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918937	0.73098	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90504	-2.67;-2.66;-2.65;-2.65;-2.66;-2.65;-2.68	4.92	4.03	0.46877	.	0.055491	0.64402	N	0.000001	D	0.86306	0.5901	M	0.62723	1.935	0.80722	D	1	B;B;B	0.19445	0.025;0.025;0.036	B;B;B	0.15052	0.007;0.012;0.008	T	0.78841	-0.2045	10	0.05620	T	0.96	-14.9166	13.1007	0.59218	0.0769:0.0:0.9231:0.0	.	1252;1317;1318	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	L	1318;1252;1167;1167;1252;110;1167;1317	ENSP00000332353:P1318L;ENSP00000389744:P1252L;ENSP00000399981:P1167L;ENSP00000396135:P1167L;ENSP00000410287:P1252L;ENSP00000414823:P1167L;ENSP00000364423:P1317L	ENSP00000332353:P1318L	P	-	2	0	PTCH1	97249406	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.532000	0.53553	1.297000	0.44761	0.655000	0.94253	CCG	PTCH1	-	NULL	ENSG00000185920		0.667	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	-	0.00	92	0	G	NM_000264		98209585	-1	tier1	-	no_errors	ENST00000331920	ensembl	human	known	74_37	missense	43.02	48	37	SNP	1.000	A
PTCHD3	374308	genome.wustl.edu	37	10	27702455	27702455	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:27702455G>A	ENST00000438700.3	-	1	842	c.725C>T	c.(724-726)gCg>gTg	p.A242V		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	242					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CTTTTCCCGCGCCACGCGCAG	0.632																																																	0													39.0	41.0	40.0					10																	27702455		2203	4300	6503	SO:0001583	missense	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.725C>T	10.37:g.27702455G>A	ENSP00000417658:p.Ala242Val		I3L499|Q6ZU28	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.A242V	ENST00000438700.3	37	c.725	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	G	7.864	0.726703	0.15439	.	.	ENSG00000182077	ENST00000438700	D	0.85629	-2.01	3.93	-6.43	0.01926	.	2.426560	0.01514	N	0.018058	T	0.67116	0.2859	N	0.12182	0.205	0.09310	N	1	B	0.17667	0.023	B	0.17433	0.018	T	0.57207	-0.7851	10	0.18710	T	0.47	0.6932	3.851	0.08955	0.3517:0.0:0.1829:0.4654	.	242	Q3KNS1	PTHD3_HUMAN	V	242	ENSP00000417658:A242V	ENSP00000417658:A242V	A	-	2	0	PTCHD3	27742461	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.675000	0.05227	-0.895000	0.03920	-0.397000	0.06425	GCG	PTCHD3	-	pfam_Patched	ENSG00000182077		0.632	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	-	0.00	56	0	G	XM_370541		27702455	-1	tier1	-	no_errors	ENST00000438700	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.000	A
PTCHD3	374308	genome.wustl.edu	37	10	27702750	27702750	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:27702750C>T	ENST00000438700.3	-	1	547	c.430G>A	c.(430-432)Gcg>Acg	p.A144T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	144					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.A144T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						ATCAAGGGCGCCAGCAGGAAG	0.667																																																	1	Substitution - Missense(1)	central_nervous_system(1)											42.0	48.0	46.0					10																	27702750		2203	4300	6503	SO:0001583	missense	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.430G>A	10.37:g.27702750C>T	ENSP00000417658:p.Ala144Thr		I3L499|Q6ZU28	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.A144T	ENST00000438700.3	37	c.430	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484068	0.26598	.	.	ENSG00000182077	ENST00000438700	D	0.88277	-2.36	3.89	-6.73	0.01749	.	2.478510	0.01521	N	0.018362	T	0.79907	0.4527	L	0.33485	1.01	0.09310	N	1	B	0.19331	0.035	B	0.20384	0.029	T	0.64127	-0.6480	10	0.49607	T	0.09	0.1523	2.4764	0.04576	0.1858:0.2545:0.3808:0.1789	.	144	Q3KNS1	PTHD3_HUMAN	T	144	ENSP00000417658:A144T	ENSP00000417658:A144T	A	-	1	0	PTCHD3	27742756	0.000000	0.05858	0.012000	0.15200	0.017000	0.09413	-0.662000	0.05305	-0.927000	0.03766	-1.153000	0.01818	GCG	PTCHD3	-	NULL	ENSG00000182077		0.667	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	-	0.00	55	0	C	XM_370541		27702750	-1	tier1	-	no_errors	ENST00000438700	ensembl	human	known	74_37	missense	54.29	16	19	SNP	0.012	T
PTENP1	11191	genome.wustl.edu	37	9	33674344	33674347	+	RNA	DEL	TTTT	TTTT	-	rs76928302|rs200594180		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:33674344_33674347delTTTT	ENST00000532280.1	-	0	3150_3153					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		TTCTATGTTCTTTTTTTTTTTTTT	0.27																																																	0																																												0			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33674352_33674355delTTTT				RNA	DEL	-	NULL	ENST00000532280.1	37	NULL		9																																																																																			PTENP1	-	-	ENSG00000237984		0.270	PTENP1-002	KNOWN	basic	processed_transcript	PTENP1	HGNC	pseudogene	OTTHUMT00000395145.1		0.00	20	0	TTTT	NR_023917		33674347	-1	tier1		no_errors	ENST00000532280	ensembl	human	known	74_37	rna	20.83	19	5	DEL	0.837:0.842:0.847:0.852	-
PTENP1	11191	genome.wustl.edu	37	9	33675326	33675326	+	RNA	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:33675326T>C	ENST00000532280.1	-	0	2171					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		GAGAATTGTTTCTATAACTGG	0.358																																																	0																																												0			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33675326T>C				RNA	SNP	-	NULL	ENST00000532280.1	37	NULL		9																																																																																			PTENP1	-	-	ENSG00000237984		0.358	PTENP1-002	KNOWN	basic	processed_transcript	PTENP1	HGNC	pseudogene	OTTHUMT00000395145.1	-	0.00	26	0	T	NR_023917		33675326	-1	tier1	-	no_errors	ENST00000532280	ensembl	human	known	74_37	rna	13.79	25	4	SNP	1.000	C
PTENP1	11191	genome.wustl.edu	37	9	33675365	33675365	+	RNA	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:33675365delA	ENST00000532280.1	-	0	2132					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		TATTGCCATTAAAAAAAAAGG	0.323																																																	0																																												0			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33675365delA				RNA	DEL	-	NULL	ENST00000532280.1	37	NULL		9																																																																																			PTENP1	-	-	ENSG00000237984		0.323	PTENP1-002	KNOWN	basic	processed_transcript	PTENP1	HGNC	pseudogene	OTTHUMT00000395145.1		0.00	34	0	A	NR_023917		33675365	-1	tier1		no_errors	ENST00000532280	ensembl	human	known	74_37	rna	40.91	26	18	DEL	0.998	-
PTENP1	11191	genome.wustl.edu	37	9	33675379	33675379	+	RNA	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:33675379C>A	ENST00000532280.1	-	0	2118					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		AAAAAGGTCCCTTTTCAGTTT	0.318																																																	0																																												0			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33675379C>A				RNA	SNP	-	NULL	ENST00000532280.1	37	NULL		9																																																																																			PTENP1	-	-	ENSG00000237984		0.318	PTENP1-002	KNOWN	basic	processed_transcript	PTENP1	HGNC	pseudogene	OTTHUMT00000395145.1	-	0.00	41	0	C	NR_023917		33675379	-1	tier1	-	no_errors	ENST00000532280	ensembl	human	known	74_37	rna	15.56	38	7	SNP	0.999	A
PTENP1	11191	genome.wustl.edu	37	9	33675400	33675400	+	RNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:33675400G>A	ENST00000532280.1	-	0	2097					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		ATTCAAGTTTGTTTTCATGGT	0.323																																																	0																																												0			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33675400G>A				RNA	SNP	-	NULL	ENST00000532280.1	37	NULL		9																																																																																			PTENP1	-	-	ENSG00000237984		0.323	PTENP1-002	KNOWN	basic	processed_transcript	PTENP1	HGNC	pseudogene	OTTHUMT00000395145.1	-	0.00	51	0	G	NR_023917		33675400	-1	tier1	-	no_errors	ENST00000532280	ensembl	human	known	74_37	rna	9.43	48	5	SNP	1.000	A
PTGFR	5737	genome.wustl.edu	37	1	78959098	78959098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:78959098G>T	ENST00000370757.3	+	2	907	c.670G>T	c.(670-672)Gga>Tga	p.G224*	PTGFR_ENST00000370758.1_Nonsense_Mutation_p.G224*|PTGFR_ENST00000370756.3_Nonsense_Mutation_p.G224*	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	224					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	TGCAATCACAGGAATTACACT	0.383																																																	0													60.0	62.0	62.0					1																	78959098		2203	4300	6503	SO:0001587	stop_gained	0			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.670G>T	1.37:g.78959098G>T	ENSP00000359793:p.Gly224*		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_PglndnF_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt,prints_GPCR_Rhodpsn	p.G224*	ENST00000370757.3	37	c.670	CCDS686.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.316194	0.98207	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	.	.	.	5.85	5.85	0.93711	.	0.222920	0.46758	D	0.000261	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-12.6745	20.5471	0.99284	0.0:0.0:1.0:0.0	.	.	.	.	X	224	.	ENSP00000359792:G224X	G	+	1	0	PTGFR	78731686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.908000	0.63307	2.941000	0.99782	0.655000	0.94253	GGA	PTGFR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM	ENSG00000122420		0.383	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFR	HGNC	protein_coding	OTTHUMT00000026582.1		0.00	15	0	G	NM_000959		78959098	+1			no_errors	ENST00000370757	ensembl	human	known	74_37	nonsense	5.41	35	2	SNP	1.000	T
PTGFRN	5738	genome.wustl.edu	37	1	117504097	117504097	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:117504097G>T	ENST00000393203.2	+	5	1593	c.1446G>T	c.(1444-1446)cgG>cgT	p.R482R	RNA5SP55_ENST00000516701.1_RNA	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	482	Ig-like C2-type 4.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GCAAGCAGCGGGCCCAGGATG	0.502																																																	0													80.0	76.0	77.0					1																	117504097		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1446G>T	1.37:g.117504097G>T			Q5VVU9|Q8N2K6	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.R482	ENST00000393203.2	37	c.1446	CCDS890.1	1																																																																																			PTGFRN	-	smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000134247		0.502	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1	-	0.00	66	0	G	NM_020440		117504097	+1	tier1	-	no_errors	ENST00000393203	ensembl	human	known	74_37	silent	9.76	37	4	SNP	0.999	T
PTH1R	5745	genome.wustl.edu	37	3	46943307	46943307	+	Missense_Mutation	SNP	C	C	T	rs199627585		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:46943307C>T	ENST00000313049.5	+	11	1371	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	PTH1R_ENST00000430002.2_Missense_Mutation_p.R390W|PTH1R_ENST00000418619.1_Missense_Mutation_p.R390W|PTH1R_ENST00000449590.1_Missense_Mutation_p.R390W			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	390					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	CACCAAGCTGCGGGAGACCAA	0.652																																																	0													58.0	59.0	58.0					3																	46943307		2203	4300	6503	SO:0001583	missense	0				CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.1168C>T	3.37:g.46943307C>T	ENSP00000321999:p.Arg390Trp		Q2M1U3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt	p.R390W	ENST00000313049.5	37	c.1168	CCDS2747.1	3	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929715	0.52759	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	4.93	4.93	0.64822	GPCR, family 2-like (1);	.	.	.	.	T	0.32376	0.0827	L	0.35341	1.055	0.80722	D	1	B	0.26935	0.164	B	0.28465	0.09	T	0.09930	-1.0652	9	0.37606	T	0.19	.	10.8436	0.46730	0.0:0.9143:0.0:0.0857	.	390	Q03431	PTH1R_HUMAN	W	390;390;390;390;390;654	ENSP00000402723:R390W;ENSP00000411424:R390W;ENSP00000400977:R390W;ENSP00000413774:R390W;ENSP00000321999:R390W	ENSP00000321999:R390W	R	+	1	2	PTH1R	46918311	0.011000	0.17503	1.000000	0.80357	0.987000	0.75469	0.197000	0.17197	2.561000	0.86390	0.563000	0.77884	CGG	PTH1R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000160801		0.652	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH1R	HGNC	protein_coding	OTTHUMT00000257481.1	-	0.00	59	0	C	NM_000316		46943307	+1	tier1	rs199627585	no_errors	ENST00000313049	ensembl	human	known	74_37	missense	29.09	39	16	SNP	1.000	T
PTK2	5747	genome.wustl.edu	37	8	141754889	141754891	+	Intron	DEL	AAA	AAA	-	rs372806706		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:141754889_141754891delAAA	ENST00000522684.1	-	19	1748				PTK2_ENST00000535192.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000519465.1_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000520151.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000538769.1_Intron	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGACCAAAAGAAAAAAAAAAAAA	0.305																																																	0																																										SO:0001627	intron_variant	0			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1519-23TTT>-	8.37:g.141754898_141754900delAAA			B4E2N6|F5H4S4|Q14291|Q9UD85	RNA	DEL	-	NULL	ENST00000522684.1	37	NULL	CCDS6381.1	8																																																																																			PTK2	-	-	ENSG00000169398		0.305	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	HGNC	protein_coding	OTTHUMT00000378054.5		0.00	23	0	AAA	NM_005607		141754891	-1	tier1		no_errors	ENST00000518509	ensembl	human	known	74_37	rna	21.21	26	7	DEL	0.003:0.004:0.005	-
PTK2B	2185	genome.wustl.edu	37	8	27294938	27294938	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:27294938G>A	ENST00000397501.1	+	22	2260	c.1452G>A	c.(1450-1452)ccG>ccA	p.P484P	PTK2B_ENST00000544172.1_Silent_p.P484P|PTK2B_ENST00000346049.5_Silent_p.P484P|PTK2B_ENST00000397497.4_Silent_p.P230P|PTK2B_ENST00000517339.1_Silent_p.P484P|PTK2B_ENST00000420218.2_Silent_p.P484P|PTK2B_ENST00000338238.4_Silent_p.P484P	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	484	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TCGACCACCCGCACATCGTGA	0.542																																																	0													108.0	85.0	93.0					8																	27294938		2203	4300	6503	SO:0001819	synonymous_variant	0			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1452G>A	8.37:g.27294938G>A			D3DST0|Q13475|Q14290|Q16709|Q6PID4	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P484	ENST00000397501.1	37	c.1452	CCDS6057.1	8																																																																																			PTK2B	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000120899		0.542	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTK2B	HGNC	protein_coding	OTTHUMT00000219916.1	-	0.00	42	0	G	NM_004103		27294938	+1	tier1	-	no_errors	ENST00000346049	ensembl	human	known	74_37	silent	36.54	33	19	SNP	0.091	A
PTK7	5754	genome.wustl.edu	37	6	43098360	43098360	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:43098360G>T	ENST00000230419.4	+	5	994	c.773G>T	c.(772-774)tGg>tTg	p.W258L	PTK7_ENST00000349241.2_Missense_Mutation_p.W258L|PTK7_ENST00000352931.2_Missense_Mutation_p.W258L|PTK7_ENST00000345201.2_Missense_Mutation_p.W258L|PTK7_ENST00000471863.1_Missense_Mutation_p.W258L|PTK7_ENST00000481273.1_Missense_Mutation_p.W266L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	258	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGCCTGCAGTGGCTCTTTGAG	0.577																																																	0													92.0	78.0	83.0					6																	43098360		2203	4300	6503	SO:0001583	missense	0			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.773G>T	6.37:g.43098360G>T	ENSP00000230419:p.Trp258Leu		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.W258L	ENST00000230419.4	37	c.773	CCDS4884.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.141971	0.94560	.	.	ENSG00000112655	ENST00000230419;ENST00000471863;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000419972;ENST00000481946	T;T;T;D;D;T;T	0.96265	0.56;0.56;0.56;-3.96;-3.96;0.56;0.56	5.68	5.68	0.88126	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.99229	1.0881	10	0.87932	D	0	.	19.798	0.96494	0.0:0.0:1.0:0.0	.	266;258;258;258;258;258	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308;Q86X91	.;.;.;.;PTK7_HUMAN;.	L	258;258;258;258;258;266;266;11	ENSP00000230419:W258L;ENSP00000419037:W258L;ENSP00000325462:W258L;ENSP00000326029:W258L;ENSP00000325992:W258L;ENSP00000418754:W266L;ENSP00000420165:W11L	ENSP00000230418:W258L	W	+	2	0	PTK7	43206338	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.106000	0.89555	2.677000	0.91161	0.563000	0.77884	TGG	PTK7	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000112655		0.577	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK7	HGNC	protein_coding	OTTHUMT00000040580.2	-	0.00	46	0	G			43098360	+1	tier1	-	no_errors	ENST00000230419	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T
PTN	5764	genome.wustl.edu	37	7	136920962	136920962	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:136920962C>T	ENST00000348225.2	-	5	879				PTN_ENST00000393083.2_Missense_Mutation_p.G160E	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin						bone mineralization (GO:0030282)|learning (GO:0007612)|negative regulation of catalytic activity (GO:0043086)|nervous system development (GO:0007399)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	heparin binding (GO:0008201)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						CAAACTCTCCCCACTCCTGTG	0.413																																																	0																																										SO:0001627	intron_variant	0			M57399	CCDS5844.1	7q33	2014-01-30	2008-07-31		ENSG00000105894	ENSG00000105894		"""Endogenous ligands"""	9630	protein-coding gene	gene with protein product	"""heparin binding growth factor 8"""	162095	"""neurite growth-promoting factor 1"""	NEGF1		1457401, 1768439	Standard	NM_002825		Approved	HBNF, HBGF8	uc003vtq.2	P21246	OTTHUMG00000155709	ENST00000348225.2:c.452-8140G>A	7.37:g.136920962C>T			Q5U0B0|Q6ICQ5|Q9UCC6	Missense_Mutation	SNP	pfam_PTN/MK_C_dom,pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF	p.G160E	ENST00000348225.2	37	c.479	CCDS5844.1	7	.	.	.	.	.	.	.	.	.	.	C	10.08	1.251444	0.22880	.	.	ENSG00000105894	ENST00000393083	.	.	.	3.11	-3.51	0.04696	.	.	.	.	.	T	0.24509	0.0594	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29027	-1.0025	7	0.87932	D	0	.	0.9096	0.01291	0.1682:0.1833:0.1691:0.4794	.	160	C9JR52	.	E	160	.	ENSP00000376798:G160E	G	-	2	0	PTN	136571502	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.547000	0.06055	-0.797000	0.04450	0.563000	0.77884	GGG	PTN	-	NULL	ENSG00000105894		0.413	PTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTN	HGNC	protein_coding	OTTHUMT00000341339.1	-	0.00	72	0	C	NM_002825		136920962	-1	tier1	-	no_errors	ENST00000393083	ensembl	human	novel	74_37	missense	21.74	54	15	SNP	0.000	T
PTOV1	53635	genome.wustl.edu	37	19	50363527	50363527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:50363527delG	ENST00000601675.1	+	12	1346	c.1242delG	c.(1240-1242)atgfs	p.M414fs	PTOV1_ENST00000600603.1_Frame_Shift_Del_p.W359fs|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000598325.1_3'UTR|AC018766.5_ENST00000593654.1_RNA|AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000391842.1_Frame_Shift_Del_p.M414fs|PTOV1_ENST00000221557.9_Frame_Shift_Del_p.W359fs|AC018766.5_ENST00000601893.1_RNA|PTOV1_ENST00000599732.1_Frame_Shift_Del_p.M414fs|PTOV1_ENST00000601638.1_Frame_Shift_Del_p.M382fs			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	414	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.*417fs?(1)		endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CGCCGTAGATGGGGGGGTAGT	0.657																																																	1	Deletion - Frameshift(1)	large_intestine(1)											24.0	26.0	25.0					19																	50363527		2203	4300	6503	SO:0001589	frameshift_variant	0			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.1242delG	19.37:g.50363527delG	ENSP00000472816:p.Met414fs		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Frame_Shift_Del	DEL	pfam_Mediator_Med25	p.*417fs	ENST00000601675.1	37	c.1242	CCDS12782.1	19																																																																																			PTOV1	-	NULL	ENSG00000104960		0.657	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	PTOV1	HGNC	protein_coding	OTTHUMT00000465347.1		0.00	52	0	G	NM_017432		50363527	+1	tier1		no_errors	ENST00000391842	ensembl	human	known	74_37	frame_shift_del	33.33	26	13	DEL	1.000	-
PTPN1	5770	genome.wustl.edu	37	20	49197838	49197838	+	Frame_Shift_Del	DEL	G	G	-	rs149610824	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:49197838delG	ENST00000371621.3	+	9	1299	c.1125delG	c.(1123-1125)gtgfs	p.V375fs	PTPN1_ENST00000541713.1_Frame_Shift_Del_p.V302fs	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	375					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	GTCGGGTCGTGGGGGGAAGTC	0.562																																																	0													72.0	62.0	65.0					20																	49197838		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.1125delG	20.37:g.49197838delG	ENSP00000360683:p.Val375fs		Q5TGD8|Q9BQV9|Q9NQQ4	Frame_Shift_Del	DEL	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.G377fs	ENST00000371621.3	37	c.1125	CCDS13430.1	20																																																																																			PTPN1	-	pirsf_Ptpn1/Ptpn2	ENSG00000196396		0.562	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN1	HGNC	protein_coding	OTTHUMT00000079694.2		0.00	48	0	G			49197838	+1	tier1		no_errors	ENST00000371621	ensembl	human	known	74_37	frame_shift_del	23.53	26	8	DEL	0.004	-
PTPN1	5770	genome.wustl.edu	37	20	49197980	49197980	+	Missense_Mutation	SNP	G	G	A	rs367996563		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:49197980G>A	ENST00000371621.3	+	9	1441	c.1267G>A	c.(1267-1269)Gct>Act	p.A423T	PTPN1_ENST00000541713.1_Missense_Mutation_p.A350T	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	423					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)	p.A423T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	CACGGCCGGCGCTTACCTCTG	0.602																																																	1	Substitution - Missense(1)	endometrium(1)											82.0	57.0	65.0					20																	49197980		2203	4300	6503	SO:0001583	missense	0				CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.1267G>A	20.37:g.49197980G>A	ENSP00000360683:p.Ala423Thr		Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	pirsf_Ptpn1/Ptpn2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.A423T	ENST00000371621.3	37	c.1267	CCDS13430.1	20	.	.	.	.	.	.	.	.	.	.	G	36	5.599916	0.96614	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	T;T	0.06768	3.86;3.26	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000003	T	0.22627	0.0546	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.00086	-1.2096	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	423	P18031	PTN1_HUMAN	T	423;350	ENSP00000360683:A423T;ENSP00000437732:A350T	ENSP00000360683:A423T	A	+	1	0	PTPN1	48631387	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.276000	0.78559	2.941000	0.99782	0.655000	0.94253	GCT	PTPN1	-	pirsf_Ptpn1/Ptpn2	ENSG00000196396		0.602	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN1	HGNC	protein_coding	OTTHUMT00000079694.2	-	0.00	28	0	G			49197980	+1	tier1	-	no_errors	ENST00000371621	ensembl	human	known	74_37	missense	29.03	22	9	SNP	1.000	A
PTPN14	5784	genome.wustl.edu	37	1	214560191	214560191	+	Silent	SNP	C	C	T	rs377258229		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:214560191C>T	ENST00000366956.5	-	12	1256	c.1062G>A	c.(1060-1062)tcG>tcA	p.S354S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	354					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AGTTACCTTGCGAGGTGTGCG	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		22169	0.0		0.0	False		,,,				2504	0.001				Colon(92;557 1424 24372 34121 40073)												0								C		0,4406		0,0,2203	90.0	71.0	77.0		1062	-11.1	0.0	1		77	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	PTPN14	NM_005401.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		354/1188	214560191	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1062G>A	1.37:g.214560191C>T			Q5VSI0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.S354	ENST00000366956.5	37	c.1062	CCDS1514.1	1																																																																																			PTPN14	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000152104		0.493	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	-	0.00	91	0	C	NM_005401		214560191	-1	tier1	-	no_errors	ENST00000366956	ensembl	human	known	74_37	silent	14.81	115	20	SNP	0.007	T
PTPN20A	653129	genome.wustl.edu	37	10	46584455	46584455	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:46584455delT	ENST00000374339.3	-	6	636	c.560delA	c.(559-561)aacfs	p.N187fs	PTPN20A_ENST00000509900.1_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000511769.1_Frame_Shift_Del_p.N178fs|PTPN20A_ENST00000506080.1_Frame_Shift_Del_p.N159fs|PTPN20A_ENST00000502254.1_Intron|PTPN20A_ENST00000374346.3_Frame_Shift_Del_p.N187fs|PTPN20A_ENST00000374218.2_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000513156.1_Intron|PTPN20A_ENST00000395725.3_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000395721.2_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000395722.3_Intron|PTPN20A_ENST00000502705.1_Intron|PTPN20A_ENST00000513266.1_Intron|PTPN20A_ENST00000509599.1_Frame_Shift_Del_p.N187fs|PTPN20A_ENST00000505814.1_Frame_Shift_Del_p.N106fs|PTPN20A_ENST00000437863.1_Frame_Shift_Del_p.N159fs|PTPN20A_ENST00000509774.1_Frame_Shift_Del_p.N178fs|PTPN20A_ENST00000374340.3_5'UTR|PTPN20A_ENST00000374342.2_Intron|PTPN20A_ENST00000395727.2_Intron|PTPN20A_ENST00000503851.1_Intron|PTPN20A_ENST00000508602.1_Frame_Shift_Del_p.N159fs			Q4JDL3	PTN20_HUMAN	protein tyrosine phosphatase, non-receptor type 20A	187	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.					cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)								Kidney(211;0.201)		TCGGTATCTGTTTTTTTCTCT	0.308																																																	0													5.0	4.0	5.0					10																	46584455		747	484	1231	SO:0001589	frameshift_variant	0					10q11.22	2011-06-09			ENSG00000204179	ENSG00000204179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	23422	protein-coding gene	gene with protein product	"""cancer/testis antigen 126"""						Standard			Approved	bA142I17.1, CT126		Q4JDL3	OTTHUMG00000018094	ENST00000374339.3:c.560delA	10.37:g.46584455delT	ENSP00000363459:p.Asn187fs		A6NNH8|B7ZKV3|Q4JDG6|Q4JDK1|Q4JDK5|Q4JDK6|Q4JDK8|Q4JDK9|Q4JDL0|Q4JDL1|Q4JDL4|Q4JDL5|Q4JDL6|Q4JDL7|Q4JDL8|Q5RJ33|Q5T1G3	Frame_Shift_Del	DEL	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.N187fs	ENST00000374339.3	37	c.560	CCDS31190.1	10																																																																																			PTPN20A	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000204179		0.308	PTPN20A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPN20A	HGNC	protein_coding	OTTHUMT00000358639.1		0.00	56	0	T			46584455	-1			no_errors	ENST00000374339	ensembl	human	known	74_37	frame_shift_del	10.45	60	7	DEL	1.000	0
PTPN6	5777	genome.wustl.edu	37	12	7069948	7069948	+	Intron	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:7069948delC	ENST00000318974.9	+	15	1917				MIR200C_ENST00000384980.1_RNA|PTPN6_ENST00000399448.1_Intron|PTPN6_ENST00000539029.1_Intron|PTPN6_ENST00000447931.2_Intron|U47924.27_ENST00000537269.1_lincRNA|PTPN6_ENST00000456013.1_Frame_Shift_Del_p.A599fs	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6						abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CCTGTACTTGCCCCCCTGCAC	0.607																																																	0													35.0	41.0	39.0					12																	7069948		1986	4094	6080	SO:0001627	intron_variant	0				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.1674-21C>-	12.37:g.7069948delC			A8K306|G3V0F8|Q969V8|Q9UK67	Frame_Shift_Del	DEL	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2	p.L601fs	ENST00000318974.9	37	c.1796	CCDS44820.1	12																																																																																			PTPN6	-	NULL	ENSG00000111679		0.607	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN6	HGNC	protein_coding	OTTHUMT00000400023.1		0.00	44	0	C	NM_002831		7069948	+1	tier1		no_errors	ENST00000456013	ensembl	human	known	74_37	frame_shift_del	56.06	29	37	DEL	0.004	-
PTPRD	5789	genome.wustl.edu	37	9	8449822	8449822	+	Silent	SNP	G	G	A	rs377680593		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:8449822G>A	ENST00000381196.4	-	31	4434	c.3891C>T	c.(3889-3891)tcC>tcT	p.S1297S	PTPRD_ENST00000360074.4_Silent_p.S1284S|PTPRD_ENST00000540109.1_Silent_p.S1297S|PTPRD_ENST00000397611.3_Silent_p.S887S|PTPRD_ENST00000358503.5_Silent_p.S1275S|PTPRD_ENST00000356435.5_Silent_p.S1297S|PTPRD_ENST00000537002.1_Silent_p.S887S|PTPRD_ENST00000397606.3_Silent_p.S876S|PTPRD_ENST00000355233.5_Silent_p.S891S|PTPRD_ENST00000397617.3_Silent_p.S876S|PTPRD_ENST00000486161.1_Silent_p.S890S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1297					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCTAGAGTCGGACTCTGCCC	0.438										TSP Lung(15;0.13)																																							0								G	,,,,,	0,4406		0,0,2203	270.0	253.0	259.0		2661,2628,3891,2670,2673,2643	-11.2	0.1	9		259	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRD	NM_001040712.2,NM_001171025.1,NM_002839.3,NM_130391.3,NM_130392.3,NM_130393.3	,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	887/1503,876/1506,1297/1913,890/1506,891/1507,881/1497	8449822	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3891C>T	9.37:g.8449822G>A			B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.S1297	ENST00000381196.4	37	c.3891	CCDS43786.1	9																																																																																			PTPRD	-	NULL	ENSG00000153707		0.438	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0.00	141	0	G			8449822	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	silent	43.98	93	73	SNP	0.031	A
PTPRE	5791	genome.wustl.edu	37	10	129877846	129877846	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:129877846A>G	ENST00000254667.3	+	20	2194	c.1915A>G	c.(1915-1917)Aca>Gca	p.T639A	PTPRE_ENST00000419012.2_Missense_Mutation_p.T639A|PTPRE_ENST00000306042.5_Missense_Mutation_p.T581A	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	639	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GCGAACAGGTACATTCATAGC	0.483																																					Colon(52;977 1184 20575 41685)												0													112.0	108.0	109.0					10																	129877846		2203	4300	6503	SO:0001583	missense	0			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1915A>G	10.37:g.129877846A>G	ENSP00000254667:p.Thr639Ala		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.T639A	ENST00000254667.3	37	c.1915	CCDS7657.1	10	.	.	.	.	.	.	.	.	.	.	A	21.7	4.189374	0.78789	.	.	ENSG00000132334	ENST00000254667;ENST00000419012;ENST00000306042	T;T;T	0.15834	2.39;2.39;2.39	4.65	4.65	0.58169	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.18467	0.0443	L	0.35854	1.095	0.80722	D	1	P;P;P	0.43973	0.823;0.562;0.823	B;B;B	0.43990	0.438;0.311;0.438	T	0.01591	-1.1317	10	0.49607	T	0.09	.	14.5216	0.67853	1.0:0.0:0.0:0.0	.	639;581;639	Q5VWH4;P23469-2;P23469	.;.;PTPRE_HUMAN	A	639;639;581	ENSP00000254667:T639A;ENSP00000402337:T639A;ENSP00000303350:T581A	ENSP00000254667:T639A	T	+	1	0	PTPRE	129767836	1.000000	0.71417	0.616000	0.29078	0.991000	0.79684	9.010000	0.93611	2.070000	0.61991	0.533000	0.62120	ACA	PTPRE	-	pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000132334		0.483	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRE	HGNC	protein_coding	OTTHUMT00000050990.1	-	0.00	80	0	A			129877846	+1	tier1	-	no_errors	ENST00000254667	ensembl	human	known	74_37	missense	38.89	55	35	SNP	0.997	G
PTPRM	5797	genome.wustl.edu	37	18	8380293	8380293	+	Splice_Site	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:8380293G>T	ENST00000332175.8	+	27	4784		c.e27-1		PTPRM_ENST00000444013.1_Splice_Site|PTPRM_ENST00000400060.4_Splice_Site|PTPRM_ENST00000400053.4_Splice_Site|PTPRM_ENST00000580170.1_Splice_Site	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M						homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGTGTTTGCAGAGCTATAAAC	0.428																																																	0													75.0	70.0	72.0					18																	8380293		2203	4300	6503	SO:0001630	splice_region_variant	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3748-1G>T	18.37:g.8380293G>T			A7MBN1|D3DUH8|J3QL11	Splice_Site	SNP	-	e29-1	ENST00000332175.8	37	c.3790-1	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612566	0.87258	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRM	8370293	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.869000	0.99810	2.769000	0.95229	0.655000	0.94253	.	PTPRM	-	-	ENSG00000173482		0.428	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	-	0.00	55	0	G		Intron	8380293	+1	tier1	-	no_errors	ENST00000400060	ensembl	human	known	74_37	splice_site	5.80	65	4	SNP	1.000	T
PTPRN	5798	genome.wustl.edu	37	2	220173969	220173969	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:220173969G>A	ENST00000295718.2	-	1	326	c.86C>T	c.(85-87)cCg>cTg	p.P29L	PTPRN_ENST00000423636.2_5'Flank|PTPRN_ENST00000409251.3_Missense_Mutation_p.P29L	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	29					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCAGCCCCCCGGGCGGCTGCT	0.736																																																	0													3.0	3.0	3.0					2																	220173969		1869	3814	5683	SO:0001583	missense	0				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.86C>T	2.37:g.220173969G>A	ENSP00000295718:p.Pro29Leu		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.P29L	ENST00000295718.2	37	c.86	CCDS2440.1	2	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699976	0.48307	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000536579	T;T	0.03635	3.86;3.88	3.78	1.67	0.24075	.	0.401033	0.18400	N	0.142390	T	0.02727	0.0082	L	0.28458	0.855	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.46303	-0.9201	10	0.48119	T	0.1	.	3.4931	0.07645	0.1336:0.0:0.4137:0.4527	.	29;29	Q6NSL1;Q16849	.;PTPRN_HUMAN	L	29	ENSP00000386638:P29L;ENSP00000295718:P29L	ENSP00000295718:P29L	P	-	2	0	PTPRN	219882213	0.288000	0.24324	1.000000	0.80357	0.959000	0.62525	0.198000	0.17217	0.749000	0.32854	0.313000	0.20887	CCG	PTPRN	-	NULL	ENSG00000054356		0.736	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2		0.00	22	0	G			220173969	-1			no_errors	ENST00000295718	ensembl	human	known	74_37	missense	40.91	13	9	SNP	0.991	A
PTPRQ	374462	genome.wustl.edu	37	12	80935458	80935458	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:80935458G>T	ENST00000266688.5	+	26	3267	c.3267G>T	c.(3265-3267)caG>caT	p.Q1089H				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	1135	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						TGATCTTACAGCAGACTCCTC	0.383																																																	0													119.0	94.0	101.0					12																	80935458		692	1591	2283	SO:0001583	missense	0			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.3267G>T	12.37:g.80935458G>T	ENSP00000266688:p.Gln1089His			Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.Q1089H	ENST00000266688.5	37	c.3267		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.37|16.37	3.103351|3.103351	0.56291|0.56291	.|.	.|.	ENSG00000139304|ENSG00000139304	ENST00000266688|ENST00000532722	T|.	0.53857|.	0.6|.	5.89|5.89	4.82|4.82	0.62117|0.62117	Fibronectin, type III (3);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|T	0.39627|0.39627	0.1085|0.1085	.|.	.|.	.|.	0.26297|0.26297	N|N	0.978031|0.978031	D|.	0.62365|.	0.991|.	P|.	0.58721|.	0.844|.	T|T	0.20438|0.20438	-1.0275|-1.0275	8|4	0.45353|.	T|.	0.12|.	.|.	10.841|10.841	0.46715|0.46715	0.1542:0.0:0.8458:0.0|0.1542:0.0:0.8458:0.0	.|.	1135|.	Q9UMZ3|.	PTPRQ_HUMAN|.	H|I	1089|790	ENSP00000266688:Q1089H|.	ENSP00000266688:Q1089H|.	Q|S	+|+	3|2	2|0	PTPRQ|PTPRQ	79459589|79459589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	2.916000|2.916000	0.48813|0.48813	2.787000|2.787000	0.95880|0.95880	0.655000|0.655000	0.94253|0.94253	CAG|AGC	PTPRQ	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000139304		0.383	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		-	0.00	41	0	G	NM_001145026		80935458	+1	tier1	-	no_errors	ENST00000266688	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.994	T
PTPRS	5802	genome.wustl.edu	37	19	5239054	5239054	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:5239054C>T	ENST00000587303.1	-	12	1824	c.1725G>A	c.(1723-1725)ccG>ccA	p.P575P	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000348075.2_Silent_p.P562P|PTPRS_ENST00000262963.6_Silent_p.P571P|PTPRS_ENST00000372412.4_Silent_p.P576P|PTPRS_ENST00000588012.1_Silent_p.P562P|PTPRS_ENST00000592099.1_Silent_p.P562P|PTPRS_ENST00000353284.2_Silent_p.P562P|PTPRS_ENST00000357368.4_Silent_p.P575P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	575	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	AGGAAGTCGTCGGGTCGAAGG	0.652																																																	0													71.0	61.0	64.0					19																	5239054		2203	4300	6503	SO:0001819	synonymous_variant	0			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1725G>A	19.37:g.5239054C>T			O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom	p.P576	ENST00000587303.1	37	c.1728	CCDS45930.1	19																																																																																			PTPRS	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000105426		0.652	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	-	0.00	47	0	C			5239054	-1	tier1	-	no_errors	ENST00000372412	ensembl	human	known	74_37	silent	21.95	32	9	SNP	0.008	T
PTPRT	11122	genome.wustl.edu	37	20	40757467	40757467	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:40757467T>C	ENST00000373187.1	-	19	2773	c.2774A>G	c.(2773-2775)gAc>gGc	p.D925G	PTPRT_ENST00000356100.2_Missense_Mutation_p.D934G|PTPRT_ENST00000373201.1_Missense_Mutation_p.D915G|PTPRT_ENST00000373198.4_Missense_Mutation_p.D944G|PTPRT_ENST00000373193.3_Missense_Mutation_p.D928G|PTPRT_ENST00000373190.1_Missense_Mutation_p.D924G|PTPRT_ENST00000373184.1_Missense_Mutation_p.D915G			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	925	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCGGGAATGGTCGTCTGCAGA	0.498																																																	0													59.0	67.0	64.0					20																	40757467		2077	4208	6285	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2774A>G	20.37:g.40757467T>C	ENSP00000362283:p.Asp925Gly		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.D944G	ENST00000373187.1	37	c.2831	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308189	0.81247	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.31	5.31	0.75309	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.82407	0.5030	H	0.99806	4.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89126	0.3506	10	0.87932	D	0	.	11.9358	0.52872	0.0:0.0:0.0:1.0	.	947;925	O14522-1;O14522	.;PTPRT_HUMAN	G	924;925;928;934;947;915;915	ENSP00000362286:D924G;ENSP00000362283:D925G;ENSP00000362289:D928G;ENSP00000348408:D934G;ENSP00000362294:D947G;ENSP00000362280:D915G;ENSP00000362297:D915G	ENSP00000348408:D934G	D	-	2	0	PTPRT	40190881	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.947000	0.70242	2.138000	0.66242	0.533000	0.62120	GAC	PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000196090		0.498	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0.00	28	0	T			40757467	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	31.58	13	6	SNP	1.000	C
PTPRT	11122	genome.wustl.edu	37	20	41101109	41101109	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:41101109C>T	ENST00000373187.1	-	8	1246	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	PTPRT_ENST00000356100.2_Missense_Mutation_p.R416H|PTPRT_ENST00000373201.1_Missense_Mutation_p.R416H|PTPRT_ENST00000373198.4_Missense_Mutation_p.R416H|PTPRT_ENST00000373193.3_Missense_Mutation_p.R416H|PTPRT_ENST00000373190.1_Missense_Mutation_p.R416H|PTPRT_ENST00000373184.1_Missense_Mutation_p.R416H			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	416	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTATGGCAGCGGGTCACCGC	0.592																																																	0													55.0	63.0	60.0					20																	41101109		2111	4241	6352	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1247G>A	20.37:g.41101109C>T	ENSP00000362283:p.Arg416His		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R416H	ENST00000373187.1	37	c.1247	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.219759	0.95139	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.46	4.52	0.55395	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72095	0.3418	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	T	0.76323	-0.3001	10	0.72032	D	0.01	.	14.1231	0.65203	0.0:0.9274:0.0:0.0726	.	416;416	O14522-1;O14522	.;PTPRT_HUMAN	H	416	ENSP00000362286:R416H;ENSP00000362283:R416H;ENSP00000362289:R416H;ENSP00000348408:R416H;ENSP00000362294:R416H;ENSP00000362280:R416H;ENSP00000362297:R416H	ENSP00000348408:R416H	R	-	2	0	PTPRT	40534523	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.652000	0.83633	1.313000	0.45069	0.462000	0.41574	CGC	PTPRT	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000196090		0.592	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	-	0.00	58	0	C			41101109	-1	tier1	-	no_errors	ENST00000373198	ensembl	human	known	74_37	missense	46.30	29	25	SNP	1.000	T
PTPRU	10076	genome.wustl.edu	37	1	29586017	29586017	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:29586017G>A	ENST00000345512.3	+	5	745	c.616G>A	c.(616-618)Gcg>Acg	p.A206T	PTPRU_ENST00000428026.2_Missense_Mutation_p.A206T|PTPRU_ENST00000460170.2_Missense_Mutation_p.A206T|PTPRU_ENST00000356870.3_Missense_Mutation_p.A206T|PTPRU_ENST00000373779.3_Missense_Mutation_p.A206T|PTPRU_ENST00000323874.8_Missense_Mutation_p.A206T	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	206	Ig-like C2-type.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GGGCCAGAACGCGTCGTTCCA	0.692																																																	0													23.0	26.0	25.0					1																	29586017		2201	4298	6499	SO:0001583	missense	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.616G>A	1.37:g.29586017G>A	ENSP00000334941:p.Ala206Thr		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.A206T	ENST00000345512.3	37	c.616	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780484	0.90195	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	4.61	4.61	0.57282	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.076918	0.51477	U	0.000087	T	0.41994	0.1183	M	0.80183	2.485	0.52501	D	0.999951	B;D;B;B;B	0.62365	0.141;0.991;0.141;0.256;0.087	B;P;B;B;B	0.49528	0.034;0.614;0.034;0.015;0.015	T	0.49854	-0.8895	9	.	.	.	.	16.4888	0.84193	0.0:0.0:1.0:0.0	.	206;206;206;206;206	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	T	206	ENSP00000334941:A206T;ENSP00000362884:A206T;ENSP00000349333:A206T;ENSP00000314987:A206T;ENSP00000392332:A206T;ENSP00000432906:A206T	.	A	+	1	0	PTPRU	29458604	1.000000	0.71417	0.957000	0.39632	0.980000	0.70556	9.808000	0.99193	2.123000	0.65237	0.456000	0.33151	GCG	PTPRU	-	NULL	ENSG00000060656		0.692	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	-	0.00	40	0	G			29586017	+1	tier1	-	no_errors	ENST00000345512	ensembl	human	known	74_37	missense	40.00	15	10	SNP	1.000	A
PTPRZ1	5803	genome.wustl.edu	37	7	121513467	121513468	+	5'UTR	INS	-	-	A	rs373553794|rs200399598		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:121513467_121513468insA	ENST00000393386.2	+	0	325_326				PTPRZ1_ENST00000449182.1_5'UTR	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1						axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AACAAACAAACAAAAAAAACAT	0.505																																																	0																																										SO:0001623	5_prime_UTR_variant	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.-86->A	7.37:g.121513475_121513475dupA			A4D0W5|C9JFM0|O76043|Q9UDR6	RNA	INS	-	NULL	ENST00000393386.2	37	NULL	CCDS34740.1	7																																																																																			PTPRZ1	-	-	ENSG00000106278		0.505	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1		0.00	28	0	-	NM_002851		121513468	+1	tier1		no_errors	ENST00000471837	ensembl	human	known	74_37	rna	50.00	14	14	INS	0.000:0.000	A
PTRH1	138428	genome.wustl.edu	37	9	130477482	130477482	+	Intron	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:130477482G>T	ENST00000419060.1	-	3	1553				C9orf117_ENST00000373293.5_Intron|PTRH1_ENST00000543175.1_Intron|PTRH1_ENST00000423807.1_Intron|C9orf117_ENST00000464092.1_3'UTR|TTC16_ENST00000373289.3_5'Flank|TTC16_ENST00000393748.4_5'Flank|PTRH1_ENST00000429848.1_5'Flank			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)							mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|poly(A) RNA binding (GO:0044822)			NS(1)	1						ACCTGCGGGCGGCACCAGGGA	0.711																																																	0													2.0	2.0	2.0					9																	130477482		1686	3388	5074	SO:0001627	intron_variant	0			AK090922	CCDS35147.1	9q34.11	2006-02-13	2006-02-13	2006-02-13	ENSG00000187024	ENSG00000187024			27039	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 115"""	C9orf115			Standard	NM_001002913		Approved	PTH1	uc004bro.3	Q86Y79	OTTHUMG00000020710	ENST00000419060.1:c.97-9C>A	9.37:g.130477482G>T				RNA	SNP	-	NULL	ENST00000419060.1	37	NULL	CCDS35147.1	9																																																																																			PTRH1	-	-	ENSG00000187024		0.711	PTRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTRH1	HGNC	protein_coding	OTTHUMT00000054219.4	-	0.00	54	0	G	NM_001002913		130477482	-1	tier1	-	no_errors	ENST00000416214	ensembl	human	known	74_37	rna	11.43	31	4	SNP	0.016	T
PTRHD1	391356	genome.wustl.edu	37	2	25013357	25013357	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:25013357C>T	ENST00000328379.5	-	2	350	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	CENPO_ENST00000473706.1_5'Flank|CENPO_ENST00000260662.1_5'Flank|CENPO_ENST00000380834.2_5'Flank|PTRHD1_ENST00000487316.1_5'UTR	NM_001013663.1	NP_001013685.1	Q6GMV3	PTRD1_HUMAN	peptidyl-tRNA hydrolase domain containing 1	116						extracellular vesicular exosome (GO:0070062)	aminoacyl-tRNA hydrolase activity (GO:0004045)			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						ATACAAGTGGCGATATTCTCT	0.498																																																	0													146.0	127.0	134.0					2																	25013357		2203	4300	6503	SO:0001583	missense	0				CCDS33156.1	2p23.3	2011-05-09	2011-05-09	2011-05-09	ENSG00000184924	ENSG00000184924			33782	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 79"""	C2orf79		12477932	Standard	NM_001013663		Approved	LOC391356	uc002rfm.3	Q6GMV3	OTTHUMG00000151978	ENST00000328379.5:c.346G>A	2.37:g.25013357C>T	ENSP00000330389:p.Ala116Thr			Missense_Mutation	SNP	pfam_PTH2,superfamily_Pep_tRNA_hydro_II_dom	p.A116T	ENST00000328379.5	37	c.346	CCDS33156.1	2	.	.	.	.	.	.	.	.	.	.	C	8.967	0.971961	0.18736	.	.	ENSG00000184924	ENST00000328379	T	0.08896	3.04	5.08	0.132	0.14762	Peptidyl-tRNA hydrolase II domain (2);	0.301818	0.36703	N	0.002445	T	0.09379	0.0231	L	0.49778	1.585	0.25465	N	0.987882	P	0.39847	0.691	B	0.42188	0.379	T	0.12502	-1.0545	10	0.59425	D	0.04	-3.8105	8.4625	0.32936	0.0:0.4824:0.3775:0.1402	.	116	Q6GMV3	PTRD1_HUMAN	T	116	ENSP00000330389:A116T	ENSP00000330389:A116T	A	-	1	0	PTRHD1	24866861	0.676000	0.27567	0.046000	0.18839	0.119000	0.20118	0.919000	0.28692	-0.080000	0.12685	-0.820000	0.03113	GCC	PTRHD1	-	pfam_PTH2,superfamily_Pep_tRNA_hydro_II_dom	ENSG00000184924		0.498	PTRHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTRHD1	HGNC	protein_coding	OTTHUMT00000324626.3	-	0.00	110	0	C	NM_001013663		25013357	-1	tier1	-	no_errors	ENST00000328379	ensembl	human	known	74_37	missense	40.62	76	52	SNP	0.236	T
PUF60	22827	genome.wustl.edu	37	8	144904053	144904053	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:144904053G>T	ENST00000526683.1	-	3	697	c.142C>A	c.(142-144)Cag>Aag	p.Q48K	PUF60_ENST00000527197.1_Missense_Mutation_p.Q19K|PUF60_ENST00000349157.6_Missense_Mutation_p.Q48K|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000313352.7_Missense_Mutation_p.Q5K|PUF60_ENST00000456095.2_Missense_Mutation_p.Q19K|PUF60_ENST00000453551.2_Missense_Mutation_p.Q5K	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	48	Inhibits homodimerization.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTGTGCTCTGCCCGTTCTCC	0.637																																																	0													30.0	35.0	33.0					8																	144904053		2067	4189	6256	SO:0001583	missense	0			AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.142C>A	8.37:g.144904053G>T	ENSP00000434359:p.Gln48Lys		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd	p.Q48K	ENST00000526683.1	37	c.142	CCDS47934.1	8	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041798	0.55003	.	.	ENSG00000179950	ENST00000526683;ENST00000453551;ENST00000313352;ENST00000456095;ENST00000349157;ENST00000527197;ENST00000526459;ENST00000529999;ENST00000531897;ENST00000533162	T;T;T;T;T;T;T;T;T;T	0.18810	2.62;2.57;2.61;2.64;2.34;2.57;2.52;3.32;3.22;2.19	5.13	5.13	0.70059	.	0.059933	0.64402	D	0.000002	T	0.28267	0.0698	N	0.25647	0.755	0.80722	D	1	P;P;B	0.43578	0.774;0.811;0.073	B;P;B	0.57846	0.137;0.828;0.009	T	0.01626	-1.1309	10	0.08179	T	0.78	.	17.5537	0.87884	0.0:0.0:1.0:0.0	.	19;48;48	Q9UHX1-5;Q9UHX1-2;Q9UHX1	.;.;PUF60_HUMAN	K	48;5;5;19;48;19;47;85;85;85	ENSP00000434359:Q48K;ENSP00000402953:Q5K;ENSP00000322016:Q5K;ENSP00000395417:Q19K;ENSP00000322036:Q48K;ENSP00000431960:Q19K;ENSP00000432610:Q47K;ENSP00000434863:Q85K;ENSP00000437309:Q85K;ENSP00000433403:Q85K	ENSP00000322016:Q5K	Q	-	1	0	PUF60	144976041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.764000	0.74960	2.381000	0.81170	0.563000	0.77884	CAG	PUF60	-	tigrfam_PolyU-bd	ENSG00000179950		0.637	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUF60	HGNC	protein_coding	OTTHUMT00000382222.1	-	0.00	40	0	G	NM_014281		144904053	-1	tier1	-	no_errors	ENST00000526683	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
PUF60	22827	genome.wustl.edu	37	8	144904656	144904656	+	Intron	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:144904656C>A	ENST00000526683.1	-	3	667				PUF60_ENST00000527197.1_Intron|PUF60_ENST00000349157.6_Intron|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000313352.7_Intron|PUF60_ENST00000456095.2_Intron|PUF60_ENST00000453551.2_Intron	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa						apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTGTGCACACCTCCCAGAGAA	0.622																																																	0																																										SO:0001627	intron_variant	0			AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.112-573G>T	8.37:g.144904656C>A			A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	RNA	SNP	-	NULL	ENST00000526683.1	37	NULL	CCDS47934.1	8																																																																																			PUF60	-	-	ENSG00000179950		0.622	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUF60	HGNC	protein_coding	OTTHUMT00000382222.1	-	0.00	58	0	C	NM_014281		144904656	-1	tier1	-	no_errors	ENST00000524570	ensembl	human	known	74_37	rna	32.43	50	24	SNP	0.000	A
PVRL1	5818	genome.wustl.edu	37	11	119549323	119549323	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:119549323C>T	ENST00000264025.3	-	2	762	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	PVRL1_ENST00000341398.2_Missense_Mutation_p.V78M|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.V78M	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	78	Ig-like V-type.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		TAGATGGCCACGTTCTGCTTG	0.602																																																	0													91.0	77.0	82.0					11																	119549323		2199	4295	6494	SO:0001583	missense	0			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.232G>A	11.37:g.119549323C>T	ENSP00000264025:p.Val78Met		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.V78M	ENST00000264025.3	37	c.232	CCDS8426.1	11	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445753	0.63178	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	T;T;T	0.66099	-0.19;-0.19;-0.19	5.55	4.63	0.57726	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.052204	0.85682	N	0.000000	T	0.75642	0.3877	M	0.67397	2.05	0.50039	D	0.99984	P;D;D	0.89917	0.928;1.0;0.994	B;D;P	0.97110	0.197;1.0;0.448	T	0.75889	-0.3158	9	.	.	.	.	12.6	0.56491	0.0:0.9188:0.0:0.0812	.	78;78;78	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	M	78	ENSP00000344974:V78M;ENSP00000264025:V78M;ENSP00000345289:V78M	.	V	-	1	0	PVRL1	119054533	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.618000	0.61211	1.320000	0.45209	0.462000	0.41574	GTG	PVRL1	-	pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000110400		0.602	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1	-	0.00	21	0	C			119549323	-1	tier1	-	no_errors	ENST00000264025	ensembl	human	known	74_37	missense	46.43	15	13	SNP	1.000	T
PXDNL	137902	genome.wustl.edu	37	8	52321321	52321321	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:52321321G>T	ENST00000356297.4	-	17	2963	c.2863C>A	c.(2863-2865)Ctg>Atg	p.L955M	PXDNL_ENST00000543296.1_Missense_Mutation_p.L955M	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	955					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCCCCGGCCAGGAAACAGGGG	0.652																																																	0													12.0	14.0	13.0					8																	52321321		1967	4142	6109	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2863C>A	8.37:g.52321321G>T	ENSP00000348645:p.Leu955Met		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.L955M	ENST00000356297.4	37	c.2863	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	10.94	1.491529	0.26774	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.75154	-0.91;-0.91	4.02	4.02	0.46733	.	0.175082	0.27159	N	0.020655	T	0.81331	0.4800	M	0.69358	2.11	0.28085	N	0.932047	D	0.59767	0.986	D	0.67103	0.949	T	0.73933	-0.3826	10	0.72032	D	0.01	.	7.688	0.28550	0.12:0.0:0.88:0.0	.	955	A1KZ92	PXDNL_HUMAN	M	955	ENSP00000348645:L955M;ENSP00000444865:L955M	ENSP00000348645:L955M	L	-	1	2	PXDNL	52483874	1.000000	0.71417	0.005000	0.12908	0.004000	0.04260	1.636000	0.37144	1.775000	0.52247	0.655000	0.94253	CTG	PXDNL	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal	ENSG00000147485		0.652	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	-	0.00	58	0	G	NM_144651		52321321	-1	tier1	-	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	17.86	46	10	SNP	0.997	T
PXDNL	137902	genome.wustl.edu	37	8	52321614	52321614	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:52321614G>A	ENST00000356297.4	-	17	2670	c.2570C>T	c.(2569-2571)gCg>gTg	p.A857V	PXDNL_ENST00000543296.1_Missense_Mutation_p.A857V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	857					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATGCAGGGCGCGTGGGTGCC	0.682																																																	0													19.0	23.0	22.0					8																	52321614		2025	4143	6168	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2570C>T	8.37:g.52321614G>A	ENSP00000348645:p.Ala857Val		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.A857V	ENST00000356297.4	37	c.2570	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	7.521	0.656623	0.14580	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.68479	-0.33;-0.33	3.49	0.493	0.16878	.	0.753446	0.11213	N	0.587551	T	0.38746	0.1052	N	0.11756	0.17	0.09310	N	1	P	0.37398	0.593	B	0.29862	0.108	T	0.15009	-1.0452	10	0.30854	T	0.27	.	4.9674	0.14098	0.2166:0.1744:0.609:0.0	.	857	A1KZ92	PXDNL_HUMAN	V	857	ENSP00000348645:A857V;ENSP00000444865:A857V	ENSP00000348645:A857V	A	-	2	0	PXDNL	52484167	0.814000	0.29104	0.000000	0.03702	0.000000	0.00434	3.338000	0.52128	-0.162000	0.10964	-1.087000	0.02190	GCG	PXDNL	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000147485		0.682	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	-	0.00	40	0	G	NM_144651		52321614	-1	tier1	-	no_errors	ENST00000356297	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.064	A
PXK	54899	genome.wustl.edu	37	3	58382896	58382896	+	Missense_Mutation	SNP	G	G	A	rs371339749		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:58382896G>A	ENST00000356151.2	+	10	1062	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	PXK_ENST00000484288.1_Missense_Mutation_p.R318Q|PXK_ENST00000383716.3_Missense_Mutation_p.R285Q|PXK_ENST00000463280.1_Missense_Mutation_p.R285Q|PXK_ENST00000536660.1_Missense_Mutation_p.R181Q|PXK_ENST00000302779.5_Missense_Mutation_p.R301Q|PXK_ENST00000479241.1_Missense_Mutation_p.R301Q|PXK_ENST00000383715.4_Missense_Mutation_p.R301Q	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TCCTTCTACCGATCTTATTTT	0.448																																																	0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	150.0	162.0	158.0		953	5.5	1.0	3		158	0,8600		0,0,4300	no	missense	PXK	NM_017771.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	318/579	58382896	1,13005	2203	4300	6503	SO:0001583	missense	0			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.953G>A	3.37:g.58382896G>A	ENSP00000348472:p.Arg318Gln			Missense_Mutation	SNP	pfam_Phox,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_dom	p.R318Q	ENST00000356151.2	37	c.953	CCDS2889.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.263928|5.263928	0.95399|0.95399	2.27E-4|2.27E-4	0.0|0.0	ENSG00000168297|ENSG00000168297	ENST00000479134|ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750	.|T;T;T;T;T;T;T;T	.|0.64803	.|-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81484|0.81484	0.4832|0.4832	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	.|P;D;D;D;D;D	.|0.89917	.|0.65;1.0;1.0;1.0;1.0;1.0	.|B;D;D;D;D;D	.|0.77004	.|0.119;0.943;0.971;0.989;0.966;0.966	T|T	0.81291|0.81291	-0.0999|-0.0999	5|10	.|0.48119	.|T	.|0.1	-10.0633|-10.0633	19.5916|19.5916	0.95514|0.95514	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|285;285;285;318;301;318	.|E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.|.;.;.;PXK_HUMAN;.;.	N|Q	73|318;301;285;285;301;318;301;181;181	.|ENSP00000348472:R318Q;ENSP00000305045:R301Q;ENSP00000373222:R285Q;ENSP00000417903:R285Q;ENSP00000373221:R301Q;ENSP00000417915:R318Q;ENSP00000419049:R301Q;ENSP00000438356:R181Q	.|ENSP00000305045:R301Q	D|R	+|+	1|2	0|0	PXK|PXK	58357936|58357936	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.987000|0.987000	0.75469|0.75469	8.831000|8.831000	0.92068|0.92068	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GAT|CGA	PXK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	ENSG00000168297		0.448	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXK	HGNC	protein_coding	OTTHUMT00000353499.1	-	0.00	41	0	G	NM_017771		58382896	+1	tier1	-	no_errors	ENST00000356151	ensembl	human	known	74_37	missense	47.73	23	21	SNP	0.998	A
PYGL	5836	genome.wustl.edu	37	14	51387719	51387719	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:51387719G>A	ENST00000216392.7	-	6	1059	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	PYGL_ENST00000544180.2_Missense_Mutation_p.R209C|PYGL_ENST00000532462.1_Missense_Mutation_p.R243C	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	243					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GACCAGAGGCGCATGGTGTTG	0.498																																																	0													106.0	104.0	105.0					14																	51387719		2203	4300	6503	SO:0001583	missense	0				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.727C>T	14.37:g.51387719G>A	ENSP00000216392:p.Arg243Cys		A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.R243C	ENST00000216392.7	37	c.727	CCDS32080.1	14	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547610	0.86022	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.96232	-3.95;-3.95;-3.95	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	M	0.94101	3.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99267	1.0892	10	0.87932	D	0	-0.3184	19.3504	0.94381	0.0:0.0:1.0:0.0	.	209;243;243	F5H816;E9PK47;P06737	.;.;PYGL_HUMAN	C	243;209;243	ENSP00000431657:R243C;ENSP00000443787:R209C;ENSP00000216392:R243C	ENSP00000216392:R243C	R	-	1	0	PYGL	50457469	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.626000	0.46460	2.885000	0.99019	0.655000	0.94253	CGC	PYGL	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000100504		0.498	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGL	HGNC	protein_coding	OTTHUMT00000390654.3	-	0.00	79	0	G	NM_002863		51387719	-1	tier1	-	no_errors	ENST00000216392	ensembl	human	known	74_37	missense	41.51	30	22	SNP	1.000	A
PYGM	5837	genome.wustl.edu	37	11	64525786	64525786	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:64525786C>T	ENST00000164139.3	-	4	858	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	154					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCATAGGCGGCCAGGCCCAGT	0.602																																																	0													97.0	112.0	107.0					11																	64525786		2201	4297	6498	SO:0001583	missense	0				CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.460G>A	11.37:g.64525786C>T	ENSP00000164139:p.Ala154Thr		A0AVK1|A6NDY6	Missense_Mutation	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.A154T	ENST00000164139.3	37	c.460	CCDS8079.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.444521	0.96187	.	.	ENSG00000068976	ENST00000164139;ENST00000540450	D	0.93366	-3.21	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000010	D	0.96494	0.8856	M	0.81239	2.535	0.80722	D	1	D	0.60575	0.988	D	0.67103	0.949	D	0.96261	0.9191	9	.	.	.	-11.5812	17.0275	0.86452	0.0:1.0:0.0:0.0	.	154	P11217	PYGM_HUMAN	T	154;135	ENSP00000164139:A154T	.	A	-	1	0	PYGM	64282362	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.800000	0.85949	2.631000	0.89168	0.462000	0.41574	GCC	PYGM	-	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	ENSG00000068976		0.602	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGM	HGNC	protein_coding	OTTHUMT00000143254.2	-	0.00	115	0	C	NM_005609		64525786	-1	tier1	-	no_errors	ENST00000164139	ensembl	human	known	74_37	missense	30.77	72	32	SNP	1.000	T
PYGO2	90780	genome.wustl.edu	37	1	154932071	154932071	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:154932071G>A	ENST00000368457.2	-	3	576	c.405C>T	c.(403-405)ccC>ccT	p.P135P	RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000368456.1_Silent_p.P98P|PYGO2_ENST00000483463.1_5'Flank	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	135	Pro-rich.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGGAGGGAAGGGGGGTGGCT	0.667																																					NSCLC(87;357 1460 1955 21029 23522)												0													25.0	30.0	28.0					1																	154932071		2200	4300	6500	SO:0001819	synonymous_variant	0			BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"""Zinc fingers, PHD-type"""	30257	protein-coding gene	gene with protein product		606903	"""pygopus homolog 2 (Drosophila)"""			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.405C>T	1.37:g.154932071G>A			Q8WYZ4|Q96CY2	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P135	ENST00000368457.2	37	c.405	CCDS1075.1	1																																																																																			PYGO2	-	NULL	ENSG00000163348		0.667	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGO2	HGNC	protein_coding	OTTHUMT00000090949.1		0.00	12	0	G	NM_138300		154932071	-1			no_errors	ENST00000368457	ensembl	human	known	74_37	silent	9.52	15	2	SNP	0.991	A
PYGO2	90780	genome.wustl.edu	37	1	154932071	154932071	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:154932071delG	ENST00000368457.2	-	3	576	c.405delC	c.(403-405)cccfs	p.P135fs	RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000368456.1_Frame_Shift_Del_p.P98fs|PYGO2_ENST00000483463.1_5'Flank	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	135	Pro-rich.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGGAGGGAAGGGGGGTGGCT	0.667																																					NSCLC(87;357 1460 1955 21029 23522)												0													25.0	30.0	28.0					1																	154932071		2200	4300	6500	SO:0001589	frameshift_variant	0			BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"""Zinc fingers, PHD-type"""	30257	protein-coding gene	gene with protein product		606903	"""pygopus homolog 2 (Drosophila)"""			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.405delC	1.37:g.154932071delG	ENSP00000357442:p.Pro135fs		Q8WYZ4|Q96CY2	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.F136fs	ENST00000368457.2	37	c.405	CCDS1075.1	1																																																																																			PYGO2	-	NULL	ENSG00000163348		0.667	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGO2	HGNC	protein_coding	OTTHUMT00000090949.1		0.00	12	0	G	NM_138300		154932071	-1	tier1		no_errors	ENST00000368457	ensembl	human	known	74_37	frame_shift_del	19.05	17	4	DEL	0.991	-
QRFPR	84109	genome.wustl.edu	37	4	122250816	122250816	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:122250816C>T	ENST00000394427.2	-	6	1360	c.949G>A	c.(949-951)Gtg>Atg	p.V317M	QRFPR_ENST00000334383.5_3'UTR|Y_RNA_ENST00000384419.1_RNA	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	317					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ATAATTTGCACGATAGCAAAA	0.279																																																	0													35.0	36.0	36.0					4																	122250816		2202	4298	6500	SO:0001583	missense	0			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.949G>A	4.37:g.122250816C>T	ENSP00000377948:p.Val317Met			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.V317M	ENST00000394427.2	37	c.949	CCDS3719.1	4	.	.	.	.	.	.	.	.	.	.	C	23.9	4.471314	0.84533	.	.	ENSG00000186867	ENST00000394427	T	0.72505	-0.66	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83211	0.5205	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.82896	-0.0230	10	0.48119	T	0.1	.	19.3074	0.94169	0.0:1.0:0.0:0.0	.	317	Q96P65	QRFPR_HUMAN	M	317	ENSP00000377948:V317M	ENSP00000377948:V317M	V	-	1	0	QRFPR	122470266	1.000000	0.71417	0.943000	0.38184	0.946000	0.59487	5.898000	0.69838	2.569000	0.86673	0.491000	0.48974	GTG	QRFPR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000186867		0.279	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRFPR	HGNC	protein_coding	OTTHUMT00000256641.2	-	0.00	31	0	C	NM_198179		122250816	-1	tier1	-	no_errors	ENST00000394427	ensembl	human	known	74_37	missense	43.75	18	14	SNP	1.000	T
QRFPR	84109	genome.wustl.edu	37	4	122254190	122254190	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:122254190C>A	ENST00000394427.2	-	4	994	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	QRFPR_ENST00000334383.5_Nonsense_Mutation_p.E195*	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	195					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TGTTCCTTTTCATATAGGAAG	0.388																																																	0													83.0	82.0	82.0					4																	122254190		2203	4300	6503	SO:0001587	stop_gained	0			AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.583G>T	4.37:g.122254190C>A	ENSP00000377948:p.Glu195*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.E195*	ENST00000394427.2	37	c.583	CCDS3719.1	4	.	.	.	.	.	.	.	.	.	.	C	40	8.448561	0.98815	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	.	.	.	6.06	6.06	0.98353	.	0.047073	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	.	13.778	0.63066	0.0:0.9304:0.0:0.0696	.	.	.	.	X	195	.	ENSP00000335610:E195X	E	-	1	0	QRFPR	122473640	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.769000	0.85360	2.871000	0.98454	0.655000	0.94253	GAA	QRFPR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000186867		0.388	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRFPR	HGNC	protein_coding	OTTHUMT00000256641.2	-	0.00	36	0	C	NM_198179		122254190	-1	tier1	-	no_errors	ENST00000394427	ensembl	human	known	74_37	nonsense	42.86	24	18	SNP	1.000	A
R3HDM2	22864	genome.wustl.edu	37	12	57704152	57704152	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:57704152delT	ENST00000347140.3	-	3	450	c.60delA	c.(58-60)aaafs	p.K20fs	R3HDM2_ENST00000358907.2_Frame_Shift_Del_p.K20fs|R3HDM2_ENST00000402412.1_Frame_Shift_Del_p.K20fs|R3HDM2_ENST00000403821.2_Frame_Shift_Del_p.K20fs			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	20						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTTCCACCAGTTTTTTTTCTG	0.358																																																	0													344.0	260.0	285.0					12																	57704152		692	1591	2283	SO:0001589	frameshift_variant	0			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.60delA	12.37:g.57704152delT	ENSP00000317903:p.Lys20fs		Q2M1T9|Q3ZCT5	Frame_Shift_Del	DEL	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.K20fs	ENST00000347140.3	37	c.60	CCDS8937.2	12																																																																																			R3HDM2	-	NULL	ENSG00000179912		0.358	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	HGNC	protein_coding	OTTHUMT00000326570.2		0.00	91	0	T	NM_014925		57704152	-1	tier1		no_errors	ENST00000347140	ensembl	human	known	74_37	frame_shift_del	42.31	60	44	DEL	0.985	-
R3HDML	140902	genome.wustl.edu	37	20	42972026	42972026	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:42972026C>T	ENST00000217043.2	+	3	562	c.390C>T	c.(388-390)tcC>tcT	p.S130S	Y_RNA_ENST00000364493.1_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	130	SCP.					extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GGTACCGGTCCGTAGTGGATC	0.597																																																	0													105.0	74.0	85.0					20																	42972026		2203	4300	6503	SO:0001819	synonymous_variant	0			BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing-like"""				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.390C>T	20.37:g.42972026C>T				Silent	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.S130	ENST00000217043.2	37	c.390	CCDS13329.1	20																																																																																			R3HDML	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000101074		0.597	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	R3HDML	HGNC	protein_coding	OTTHUMT00000079344.1	-	0.00	86	0	C	NM_178491		42972026	+1	tier1	-	no_errors	ENST00000217043	ensembl	human	known	74_37	silent	37.84	46	28	SNP	0.000	T
RAB11FIP1	80223	genome.wustl.edu	37	8	37729770	37729770	+	Silent	SNP	G	G	A	rs142300397		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:37729770G>A	ENST00000330843.4	-	4	2562	c.2550C>T	c.(2548-2550)gaC>gaT	p.D850D	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	850					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GAGGCTCTCCGTCAGACGCGT	0.642																																																	0								G	,	2,4404	4.2+/-10.8	0,2,2201	51.0	53.0	52.0		2550,	-6.9	0.0	8	dbSNP_134	52	0,8600		0,0,4300	no	coding-synonymous,intron	RAB11FIP1	NM_001002814.2,NM_025151.4	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	850/1284,	37729770	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2550C>T	8.37:g.37729770G>A			J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.D850	ENST00000330843.4	37	c.2550	CCDS34882.1	8																																																																																			RAB11FIP1	-	NULL	ENSG00000156675		0.642	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	-	0.00	54	0	G	NM_025151		37729770	-1	tier1	rs142300397	no_errors	ENST00000330843	ensembl	human	known	74_37	silent	23.08	50	15	SNP	0.000	A
RAB11FIP5	26056	genome.wustl.edu	37	2	73316229	73316229	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:73316229C>T	ENST00000258098.6	-	2	886	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	216					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TCCTCTATGGCGCTGCTTGGG	0.557																																																	0													159.0	149.0	152.0					2																	73316229		2203	4300	6503	SO:0001583	missense	0			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.646G>A	2.37:g.73316229C>T	ENSP00000258098:p.Ala216Thr		O94939|Q9P0M1	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.A216T	ENST00000258098.6	37	c.646	CCDS1923.1	2	.	.	.	.	.	.	.	.	.	.	C	12.63	1.994549	0.35226	.	.	ENSG00000135631	ENST00000258098	T	0.55052	0.54	4.84	4.84	0.62591	.	0.228742	0.37577	N	0.002028	T	0.22742	0.0549	N	0.02247	-0.625	0.29878	N	0.826231	P;P	0.44429	0.835;0.835	B;B	0.32805	0.153;0.153	T	0.09930	-1.0652	10	0.11182	T	0.66	-19.2978	17.0426	0.86493	0.0:1.0:0.0:0.0	.	216;216	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	T	216	ENSP00000258098:A216T	ENSP00000258098:A216T	A	-	1	0	RAB11FIP5	73169737	0.952000	0.32445	0.997000	0.53966	0.883000	0.51084	4.593000	0.61034	2.688000	0.91661	0.561000	0.74099	GCC	RAB11FIP5	-	NULL	ENSG00000135631		0.557	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP5	HGNC	protein_coding	OTTHUMT00000251995.1	-	0.00	85	0	C	NM_015470		73316229	-1	tier1	-	no_errors	ENST00000258098	ensembl	human	known	74_37	missense	36.00	32	18	SNP	0.999	T
RAB36	9609	genome.wustl.edu	37	22	23503101	23503101	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:23503101G>A	ENST00000263116.2	+	10	893	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	RAB36_ENST00000341989.4_Missense_Mutation_p.A263T	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	285					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		CCGCGTAGCCGCCCTGGCATT	0.597																																																	0													76.0	66.0	70.0					22																	23503101		2203	4300	6503	SO:0001583	missense	0			AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.853G>A	22.37:g.23503101G>A	ENSP00000263116:p.Ala285Thr		Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A285T	ENST00000263116.2	37	c.853	CCDS13805.1	22	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934741	0.52866	.	.	ENSG00000100228	ENST00000263116;ENST00000341989	T;T	0.76578	-1.03;-1.03	5.49	3.35	0.38373	.	0.062422	0.64402	D	0.000006	T	0.73544	0.3600	L	0.31065	0.9	0.47214	D	0.999358	D;D	0.76494	0.999;0.989	P;P	0.58077	0.823;0.832	T	0.68565	-0.5375	10	0.30078	T	0.28	-25.9063	6.5406	0.22378	0.084:0.0:0.5957:0.3203	.	263;285	O95755-2;O95755	.;RAB36_HUMAN	T	285;263	ENSP00000263116:A285T;ENSP00000343494:A263T	ENSP00000263116:A285T	A	+	1	0	RAB36	21833101	0.953000	0.32496	0.693000	0.30195	0.049000	0.14656	1.825000	0.39081	0.772000	0.33382	0.655000	0.94253	GCC	RAB36	-	pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase	ENSG00000100228		0.597	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB36	HGNC	protein_coding	OTTHUMT00000319046.1	-	0.00	59	0	G	NM_004914		23503101	+1	tier1	-	no_errors	ENST00000263116	ensembl	human	known	74_37	missense	43.75	27	21	SNP	0.459	A
RAB40C	57799	genome.wustl.edu	37	16	677355	677355	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:677355G>T	ENST00000248139.3	+	6	782	c.579G>T	c.(577-579)caG>caT	p.Q193H	RAB40C_ENST00000539661.1_Missense_Mutation_p.Q193H|RAB40C_ENST00000535977.1_Missense_Mutation_p.Q193H|RAB40C_ENST00000538492.1_Missense_Mutation_p.Q193H	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	193	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				TCAGCCTGCAGGACCTCTGCT	0.642																																					Melanoma(123;1631 1690 28262 44104 44957)												0													93.0	75.0	81.0					16																	677355		2201	4300	6501	SO:0001583	missense	0			Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.579G>T	16.37:g.677355G>T	ENSP00000248139:p.Gln193His		A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q193H	ENST00000248139.3	37	c.579	CCDS10413.1	16	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035607	0.75617	.	.	ENSG00000197562	ENST00000535977;ENST00000539661;ENST00000538492;ENST00000248139	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.17	3.2	0.36748	SOCS protein, C-terminal (4);	0.000000	0.85682	D	0.000000	T	0.73713	0.3622	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.73799	-0.3869	10	0.87932	D	0	.	8.2437	0.31675	0.245:0.0:0.755:0.0	.	193;174	Q96S21;Q5PXE8	RB40C_HUMAN;.	H	193	ENSP00000438492:Q193H;ENSP00000445050:Q193H;ENSP00000438382:Q193H;ENSP00000248139:Q193H	ENSP00000248139:Q193H	Q	+	3	2	RAB40C	617356	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.878000	0.48515	0.567000	0.29293	0.561000	0.74099	CAG	RAB40C	-	pfam_SOCS_C,superfamily_P-loop_NTPase,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C	ENSG00000197562		0.642	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB40C	HGNC	protein_coding	OTTHUMT00000109079.4		0.00	53	0	G	NM_021168		677355	+1			no_errors	ENST00000248139	ensembl	human	known	74_37	missense	10.64	42	5	SNP	1.000	T
RAB6C	84084	genome.wustl.edu	37	2	130738037	130738037	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:130738037A>G	ENST00000410061.2	+	1	803	c.349A>G	c.(349-351)Agt>Ggt	p.S117G	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	117	Required for centrosome localization.				cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AGAAAGAGGAAGTGATGTTAT	0.428																																																	0													260.0	260.0	260.0					2																	130738037		2203	4300	6503	SO:0001583	missense	0			AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"""RAB, member RAS oncogene"""	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.349A>G	2.37:g.130738037A>G	ENSP00000387307:p.Ser117Gly		Q53RU3|Q6FIF7|Q9P128	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S117G	ENST00000410061.2	37	c.349	CCDS46408.1	2	.	.	.	.	.	.	.	.	.	.	.	7.362	0.624991	0.14257	.	.	ENSG00000222014	ENST00000410061	T	0.77489	-1.1	.	.	.	Small GTP-binding protein domain (1);	.	.	.	.	T	0.57242	0.2040	N	0.17901	0.54	0.41923	D	0.990528	B	0.14012	0.009	B	0.10450	0.005	T	0.30031	-0.9992	8	0.45353	T	0.12	-3.7616	3.8038	0.08768	0.6717:0.0:0.3283:0.0	.	117	Q9H0N0	RAB6C_HUMAN	G	117	ENSP00000387307:S117G	ENSP00000387307:S117G	S	+	1	0	RAB6C	130454507	1.000000	0.71417	0.094000	0.20943	0.395000	0.30598	5.895000	0.69814	-0.482000	0.06782	0.092000	0.15492	AGT	RAB6C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000222014		0.428	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB6C	HGNC	protein_coding	OTTHUMT00000331384.1	-	0.00	127	0	A	NM_032144		130738037	+1	tier1	-	no_errors	ENST00000410061	ensembl	human	known	74_37	missense	5.66	100	6	SNP	1.000	G
RABEP1	9135	genome.wustl.edu	37	17	5239900	5239900	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:5239900delT	ENST00000546142.2	+	4	715				RABEP1_ENST00000408982.2_Intron|RABEP1_ENST00000537505.1_Intron|RABEP1_ENST00000570487.1_3'UTR|RABEP1_ENST00000262477.6_Intron|RABEP1_ENST00000341923.6_Intron			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1						apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						tttaaagtgctttttaaaggt	0.313																																																	0																																										SO:0001627	intron_variant	0			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.528+1261T>-	17.37:g.5239900delT			B2RAG7|O95369|Q8IVX3	RNA	DEL	-	NULL	ENST00000546142.2	37	NULL	CCDS45592.1	17																																																																																			RABEP1	-	-	ENSG00000029725		0.313	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEP1	HGNC	protein_coding	OTTHUMT00000439349.1		0.00	8	0	T	NM_004703		5239900	+1	tier1		no_errors	ENST00000570487	ensembl	human	known	74_37	rna	40.00	6	4	DEL	0.000	-
RABGAP1	23637	genome.wustl.edu	37	9	125827753	125827754	+	Intron	DEL	AA	AA	-	rs3214358		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:125827753_125827754delAA	ENST00000373647.4	+	14	2042				RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1						cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATTTCATGTCAAAAAAAAAAAG	0.342																																																	0										250,45,626,3339		0,0,0,250,0,0,45,1,624,1210						-5.2	0.0		dbSNP_106	41	429,52,1278,6495		0,0,2,427,0,0,52,0,1276,2370	no	intron	RABGAP1	NM_012197.3		0,0,2,677,0,0,97,1,1900,3580	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		21.3109,21.6197,21.416				679,97,1904,9834				SO:0001627	intron_variant	0			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1908+13AA>-	9.37:g.125827761_125827762delAA			B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Frame_Shift_Del	DEL	pfam_Kinesin-like,pfam_Rab-GTPase-TBC_dom,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.K576fs	ENST00000373647.4	37	c.1717_1718	CCDS6848.2	9																																																																																			RABGAP1	-	pfscan_Rab-GTPase-TBC_dom	ENSG00000011454		0.342	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3		0.00	30	0	AA	NM_012197		125827754	+1	tier1		no_errors	ENST00000456584	ensembl	human	known	74_37	frame_shift_del	35.14	24	13	DEL	0.000:0.000	-
RABGAP1	23637	genome.wustl.edu	37	9	125865461	125865461	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:125865461C>T	ENST00000373647.4	+	26	3313	c.3179C>T	c.(3178-3180)gCa>gTa	p.A1060V	RABGAP1_ENST00000373643.5_Missense_Mutation_p.A399V	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	1060					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATAAAGACAGCAACCGGGGTT	0.527											OREG0019466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													125.0	116.0	119.0					9																	125865461		2203	4300	6503	SO:0001583	missense	0			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.3179C>T	9.37:g.125865461C>T	ENSP00000362751:p.Ala1060Val	1545	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom	p.A1060V	ENST00000373647.4	37	c.3179	CCDS6848.2	9	.	.	.	.	.	.	.	.	.	.	C	12.67	2.009104	0.35415	.	.	ENSG00000011454	ENST00000373647;ENST00000373643	T;T	0.14391	3.41;2.51	5.24	4.27	0.50696	.	0.075334	0.52532	D	0.000074	T	0.05044	0.0135	N	0.04063	-0.285	0.40179	D	0.977273	B	0.02656	0.0	B	0.04013	0.001	T	0.36890	-0.9729	10	0.09338	T	0.73	-23.939	7.7487	0.28883	0.0:0.8361:0.0:0.1639	.	1060	Q9Y3P9	RBGP1_HUMAN	V	1060;399	ENSP00000362751:A1060V;ENSP00000362747:A399V	ENSP00000362747:A399V	A	+	2	0	RABGAP1	124905282	1.000000	0.71417	0.809000	0.32408	0.997000	0.91878	3.745000	0.55119	2.723000	0.93209	0.655000	0.94253	GCA	RABGAP1	-	NULL	ENSG00000011454		0.527	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3	-	0.00	67	0	C	NM_012197		125865461	+1	tier1	-	no_errors	ENST00000373647	ensembl	human	known	74_37	missense	30.77	54	24	SNP	1.000	T
RABL2A	11159	genome.wustl.edu	37	2	114400756	114400756	+	3'UTR	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:114400756T>C	ENST00000393167.3	+	0	1962				RABL2A_ENST00000393165.3_Intron|RABL2A_ENST00000393166.3_Intron|RABL2A_ENST00000376439.3_Intron|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000409875.1_3'UTR|RABL2A_ENST00000409842.1_3'UTR	NM_013412.2	NP_038198.1	Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A						GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						GAGGCTGTCCTTTTTTTTTAG	0.458																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS2118.1	2q13	2014-05-09			ENSG00000144134	ENSG00000144134		"""RAB, member RAS oncogene"""	9799	protein-coding gene	gene with protein product		605412				10444334	Standard	NM_007082		Approved		uc010flb.3	Q9UBK7	OTTHUMG00000047828	ENST00000393167.3:c.*1050T>C	2.37:g.114400756T>C			B7ZBD6|Q9NU37	RNA	SNP	-	NULL	ENST00000393167.3	37	NULL	CCDS2118.1	2																																																																																			RABL2A	-	-	ENSG00000144134		0.458	RABL2A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL2A	HGNC	protein_coding	OTTHUMT00000109047.2	-	0.00	122	0	T			114400756	+1	tier1	-	no_errors	ENST00000478880	ensembl	human	known	74_37	rna	5.26	81	6	SNP	0.000	C
RAD50	10111	genome.wustl.edu	37	5	131931452	131931452	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:131931452delA	ENST00000265335.6	+	13	2544	c.2157delA	c.(2155-2157)ctafs	p.L719fs	RAD50_ENST00000378823.3_Frame_Shift_Del_p.L580fs			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	719	Zinc-hook. {ECO:0000255|PROSITE- ProRule:PRU00471}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.L580L(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATCAGAGCTAAAAAAAAAGG	0.418								Homologous recombination																																									1	Substitution - coding silent(1)	breast(1)											67.0	66.0	66.0					5																	131931452		2203	4300	6503	SO:0001589	frameshift_variant	0			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2157delA	5.37:g.131931452delA	ENSP00000265335:p.Leu719fs		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Frame_Shift_Del	DEL	pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes	p.K722fs	ENST00000265335.6	37	c.2157	CCDS34233.1	5																																																																																			RAD50	-	superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes	ENSG00000113522		0.418	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	HGNC	protein_coding	OTTHUMT00000132566.5		0.00	21	0	A	NM_005732		131931452	+1	tier1		no_errors	ENST00000265335	ensembl	human	known	74_37	frame_shift_del	20.00	20	5	DEL	0.997	-
RAD50	10111	genome.wustl.edu	37	5	131944382	131944382	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:131944382delA	ENST00000265335.6	+	17	3181	c.2794delA	c.(2794-2796)aaafs	p.K933fs	RAD50_ENST00000378823.3_Frame_Shift_Del_p.K794fs			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	933					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTAATCAACAAAAAAAATAC	0.279								Homologous recombination																																									0													40.0	39.0	40.0					5																	131944382		2199	4291	6490	SO:0001589	frameshift_variant	0			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2794delA	5.37:g.131944382delA	ENSP00000265335:p.Lys933fs		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Frame_Shift_Del	DEL	pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes	p.N934fs	ENST00000265335.6	37	c.2794	CCDS34233.1	5																																																																																			RAD50	-	superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes	ENSG00000113522		0.279	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	HGNC	protein_coding	OTTHUMT00000132566.5		0.00	61	0	A	NM_005732		131944382	+1	tier1		no_errors	ENST00000265335	ensembl	human	known	74_37	frame_shift_del	35.38	42	23	DEL	1.000	-
RAD51AP2	729475	genome.wustl.edu	37	2	17698736	17698737	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:17698736_17698737insT	ENST00000399080.2	-	1	969_970	c.946_947insA	c.(946-948)actfs	p.T316fs		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	316										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CGCTTCTACAGTTTTTTTATCA	0.332																																																	0										1,3493		0,1,1746						-5.6	0.0			116	1,7797		0,1,3898	no	frameshift	RAD51AP2	NM_001099218.2		0,2,5644	A1A1,A1R,RR		0.0128,0.0286,0.0177				2,11290				SO:0001589	frameshift_variant	0			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.947dupA	2.37:g.17698743_17698743dupT	ENSP00000382030:p.Thr316fs			Frame_Shift_Ins	INS	NULL	p.T316fs	ENST00000399080.2	37	c.947_946	CCDS42656.1	2																																																																																			RAD51AP2	-	NULL	ENSG00000214842		0.332	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD51AP2	HGNC	protein_coding	OTTHUMT00000323801.3		0.00	102	0	-	NM_001099218		17698737	-1	tier1		no_errors	ENST00000399080	ensembl	human	known	74_37	frame_shift_ins	31.73	71	33	INS	0.000:0.003	T
RAD54L2	23132	genome.wustl.edu	37	3	51679780	51679780	+	Splice_Site	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:51679780G>T	ENST00000409535.2	+	17	2954		c.e17+1		RAD54L2_ENST00000296477.3_Splice_Site	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)							nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CATCACCAAGGTAAGAACTTG	0.488																																																	0													67.0	62.0	64.0					3																	51679780		2203	4300	6503	SO:0001630	splice_region_variant	0			AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.2829+1G>T	3.37:g.51679780G>T			Q8TB57|Q9BV54	Splice_Site	SNP	-	e16+1	ENST00000409535.2	37	c.2829+1	CCDS33765.2	3	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719314	0.89205	.	.	ENSG00000164080	ENST00000409535;ENST00000432863;ENST00000296477	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3882	0.90473	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAD54L2	51654820	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.476000	0.97823	2.588000	0.87417	0.561000	0.74099	.	RAD54L2	-	-	ENSG00000164080		0.488	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54L2	HGNC	protein_coding	OTTHUMT00000328700.2		0.00	66	0	G	NM_015106	Intron	51679780	+1			no_errors	ENST00000409535	ensembl	human	known	74_37	splice_site	5.88	64	4	SNP	1.000	T
RAE1	8480	genome.wustl.edu	37	20	55929119	55929119	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:55929119G>T	ENST00000395841.2	+	2	445	c.25G>T	c.(25-27)Ggt>Tgt	p.G9C	RAE1_ENST00000527947.1_Missense_Mutation_p.G9C|RAE1_ENST00000395840.2_Missense_Mutation_p.G9C|RAE1_ENST00000371242.2_Missense_Mutation_p.G9C	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	9					carbohydrate metabolic process (GO:0005975)|cellular response to organic cyclic compound (GO:0071407)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|nuclear pore (GO:0005643)|nucleolus (GO:0005730)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			AACAACCTCAGGTTTTGGAAC	0.418																																																	0													119.0	114.0	115.0					20																	55929119		2203	4300	6503	SO:0001583	missense	0			U84720	CCDS13458.1	20q13.31	2013-08-28	2013-08-28		ENSG00000101146	ENSG00000101146		"""WD repeat domain containing"""	9828	protein-coding gene	gene with protein product		603343	"""RAE1 (RNA export 1, S.pombe) homolog"", ""RAE1 RNA export 1 homolog (S. pombe)"""			9370289, 9256445	Standard	XM_005260582		Approved	Mnrp41	uc002xyi.3	P78406	OTTHUMG00000032819	ENST00000395841.2:c.25G>T	20.37:g.55929119G>T	ENSP00000379182:p.Gly9Cys		A8K882|O15306|Q3SYL7|Q5TCH8|Q6V708|Q9H100|Q9NQM6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G9C	ENST00000395841.2	37	c.25	CCDS13458.1	20	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591733	0.66219	.	.	ENSG00000101146	ENST00000395841;ENST00000371242;ENST00000527947;ENST00000411894;ENST00000429339;ENST00000395840;ENST00000452119	T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.16;0.4;0.4;-0.36	5.87	5.87	0.94306	.	0.046925	0.85682	D	0.000000	T	0.80513	0.4637	M	0.63843	1.955	0.80722	D	1	D;P	0.89917	1.0;0.905	D;P	0.72625	0.978;0.706	T	0.78031	-0.2363	10	0.45353	T	0.12	-0.1819	19.3531	0.94398	0.0:0.0:1.0:0.0	.	9;9	E9PQ57;P78406	.;RAE1L_HUMAN	C	9	ENSP00000379182:G9C;ENSP00000360286:G9C;ENSP00000432609:G9C;ENSP00000392097:G9C;ENSP00000393264:G9C;ENSP00000379181:G9C	ENSP00000360286:G9C	G	+	1	0	RAE1	55362526	1.000000	0.71417	0.808000	0.32385	0.973000	0.67179	5.970000	0.70431	2.941000	0.99782	0.655000	0.94253	GGT	RAE1	-	NULL	ENSG00000101146		0.418	RAE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAE1	HGNC	protein_coding	OTTHUMT00000079842.2	-	0.00	83	0	G			55929119	+1	tier1	-	no_errors	ENST00000371242	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.998	T
RAI1	10743	genome.wustl.edu	37	17	17696716	17696716	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:17696716delC	ENST00000353383.1	+	3	923	c.454delC	c.(454-456)cccfs	p.P153fs	RAI1_ENST00000261641.6_Frame_Shift_Del_p.P153fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	153					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GACAGCAGTGCCCCCCAGCAG	0.652																																																	0													37.0	38.0	38.0					17																	17696716		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.454delC	17.37:g.17696716delC	ENSP00000323074:p.Pro153fs		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Frame_Shift_Del	DEL	smart_Znf_PHD	p.S154fs	ENST00000353383.1	37	c.454	CCDS11188.1	17																																																																																			RAI1	-	NULL	ENSG00000108557		0.652	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1		0.00	53	0	C	NM_030665		17696716	+1	tier1		no_errors	ENST00000353383	ensembl	human	known	74_37	frame_shift_del	35.29	22	12	DEL	1.000	-
RALA	5898	genome.wustl.edu	37	7	39745766	39745766	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:39745766A>G	ENST00000005257.2	+	5	923	c.543A>G	c.(541-543)gaA>gaG	p.E181E	RALA_ENST00000468201.1_3'UTR|AC004837.5_ENST00000435766.1_RNA	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	181					actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						GAAAGATGGAAGACAGCAAAG	0.318																																																	0													78.0	85.0	83.0					7																	39745766		2203	4298	6501	SO:0001819	synonymous_variant	0				CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"""RAS-like protein A"", ""Ras-related protein Ral-A"", ""Ras family small GTP binding protein RALA"", ""ras related GTP binding protein A"""	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.543A>G	7.37:g.39745766A>G			A4D1W3	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E181	ENST00000005257.2	37	c.543	CCDS5460.1	7																																																																																			RALA	-	superfamily_P-loop_NTPase,smart_Ran_GTPase	ENSG00000006451		0.318	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALA	HGNC	protein_coding	OTTHUMT00000250696.2	-	0.00	13	0	A	NM_005402		39745766	+1	tier1	-	no_errors	ENST00000005257	ensembl	human	known	74_37	silent	35.00	13	7	SNP	1.000	G
RALGAPA1	253959	genome.wustl.edu	37	14	36041863	36041863	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:36041863C>T	ENST00000389698.3	-	37	6143	c.5753G>A	c.(5752-5754)aGg>aAg	p.R1918K	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.R1965K|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R1918K|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R1931K	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1918	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AATTCCTCTCCTGTAGTCTCT	0.343																																																	0													112.0	112.0	112.0					14																	36041863		2203	4297	6500	SO:0001583	missense	0			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5753G>A	14.37:g.36041863C>T	ENSP00000374348:p.Arg1918Lys		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.R1965K	ENST00000389698.3	37	c.5894	CCDS32065.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.394168|5.394168	0.96009|0.96009	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000554573|ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	.|D;D;D;D;D;D	.|0.94723	.|-3.5;-3.5;-3.5;-3.5;-3.5;-3.5	5.31|5.31	5.31|5.31	0.75309|0.75309	.|Rap/ran-GAP (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96411|0.96411	0.8829|0.8829	L|L	0.50847|0.50847	1.595|1.595	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D	.|0.89917	.|0.992;1.0;0.997;1.0	.|D;D;D;D	.|0.91635	.|0.986;0.999;0.96;0.999	D|D	0.96868|0.96868	0.9637|0.9637	5|10	.|0.72032	.|D	.|0.01	-9.5799|-9.5799	18.9988|18.9988	0.92824|0.92824	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1965;1931;1918;1918	.|Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.|.;.;.;RGPA1_HUMAN	R|K	201|1918;1918;1918;1965;556;1931;1965	.|ENSP00000374348:R1918K;ENSP00000302647:R1918K;ENSP00000258840:R1965K;ENSP00000451133:R556K;ENSP00000371803:R1931K;ENSP00000451877:R1965K	.|ENSP00000258840:R1965K	G|R	-|-	1|2	0|0	RALGAPA1|RALGAPA1	35111614|35111614	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.489000|2.489000	0.83994|0.83994	0.585000|0.585000	0.79938|0.79938	GGA|AGG	RALGAPA1	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	ENSG00000174373		0.343	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	-	0.00	89	0	C	XM_210022		36041863	-1	tier1	-	no_errors	ENST00000258840	ensembl	human	known	74_37	missense	39.82	68	45	SNP	1.000	T
RAN	5901	genome.wustl.edu	37	12	131357571	131357571	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:131357571C>A	ENST00000543796.1	+	4	403	c.145C>A	c.(145-147)Ccc>Acc	p.P49T	RAN_ENST00000392367.3_Missense_Mutation_p.P49T|RAN_ENST00000392369.2_Missense_Mutation_p.P49T|RAN_ENST00000254675.3_5'UTR|RAN_ENST00000541630.1_5'UTR			P62826	RAN_HUMAN	RAN, member RAS oncogene family	49					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		TGAGGTTCATCCCCTAGTGTT	0.468																																																	0													129.0	119.0	122.0					12																	131357571		2203	4300	6503	SO:0001583	missense	0			M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.145C>A	12.37:g.131357571C>A	ENSP00000446215:p.Pro49Thr		A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P49T	ENST00000543796.1	37	c.145	CCDS9271.1	12	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005730	0.35415	.	.	ENSG00000132341	ENST00000543796;ENST00000448750;ENST00000392369;ENST00000535090;ENST00000392367	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	4.04	3.14	0.36123	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	N	0.02420	-0.555	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.12837	0.008;0.008	T	0.48080	-0.9066	10	0.48119	T	0.1	-7.4928	10.5471	0.45066	0.0:0.9038:0.0:0.0962	.	49;49	A8K3Z8;P62826	.;RAN_HUMAN	T	49;67;49;45;49	ENSP00000446215:P49T;ENSP00000396127:P67T;ENSP00000376176:P49T;ENSP00000444042:P45T;ENSP00000376174:P49T	ENSP00000376174:P49T	P	+	1	0	RAN	129923524	1.000000	0.71417	0.034000	0.17996	0.245000	0.25701	7.311000	0.78958	0.811000	0.34303	0.511000	0.50034	CCC	RAN	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000132341		0.468	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAN	HGNC	protein_coding	OTTHUMT00000259441.2	-	0.00	64	0	C	NM_006325		131357571	+1	tier1	-	no_errors	ENST00000392369	ensembl	human	known	74_37	missense	39.71	41	27	SNP	1.000	A
RAN	5901	genome.wustl.edu	37	12	131357587	131357587	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:131357587C>A	ENST00000543796.1	+	4	419	c.161C>A	c.(160-162)aCc>aAc	p.T54N	RAN_ENST00000392367.3_Missense_Mutation_p.T54N|RAN_ENST00000392369.2_Missense_Mutation_p.T54N|RAN_ENST00000254675.3_5'UTR|RAN_ENST00000541630.1_5'UTR			P62826	RAN_HUMAN	RAN, member RAS oncogene family	54					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		GTGTTCCACACCAACAGAGGA	0.458																																																	0													113.0	108.0	109.0					12																	131357587		2203	4300	6503	SO:0001583	missense	0			M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.161C>A	12.37:g.131357587C>A	ENSP00000446215:p.Thr54Asn		A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.T54N	ENST00000543796.1	37	c.161	CCDS9271.1	12	.	.	.	.	.	.	.	.	.	.	C	19.92	3.915585	0.73098	.	.	ENSG00000132341	ENST00000543796;ENST00000448750;ENST00000392369;ENST00000535090;ENST00000392367	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	4.04	2.13	0.27403	Small GTP-binding protein domain (1);	0.101547	0.64402	N	0.000002	D	0.85423	0.5693	M	0.85373	2.75	0.80722	D	1	P;P	0.49635	0.926;0.926	P;P	0.62560	0.904;0.904	D	0.83578	0.0116	10	0.87932	D	0	-14.4638	7.1861	0.25801	0.1701:0.7378:0.0:0.092	.	54;54	A8K3Z8;P62826	.;RAN_HUMAN	N	54;72;54;50;54	ENSP00000446215:T54N;ENSP00000396127:T72N;ENSP00000376176:T54N;ENSP00000444042:T50N;ENSP00000376174:T54N	ENSP00000376174:T54N	T	+	2	0	RAN	129923540	1.000000	0.71417	0.258000	0.24420	0.764000	0.43329	7.311000	0.78958	0.269000	0.21961	0.511000	0.50034	ACC	RAN	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000132341		0.458	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAN	HGNC	protein_coding	OTTHUMT00000259441.2		0.00	70	0	C	NM_006325		131357587	+1			no_errors	ENST00000392369	ensembl	human	known	74_37	missense	5.26	54	3	SNP	1.000	A
RANBP17	64901	genome.wustl.edu	37	5	170319432	170319432	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:170319432G>T	ENST00000523189.1	+	4	462	c.298G>T	c.(298-300)Gct>Tct	p.A100S		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	100					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCCAAGCTGGCTCCCTTTGT	0.403			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													169.0	165.0	167.0					5																	170319432		2203	4300	6503	SO:0001583	missense	0			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.298G>T	5.37:g.170319432G>T	ENSP00000427975:p.Ala100Ser		Q8IU74	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.A100S	ENST00000523189.1	37	c.298	CCDS34287.1	5	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293393	0.80914	.	.	ENSG00000204764	ENST00000523189;ENST00000545246;ENST00000519944	T	0.23950	1.88	5.92	5.92	0.95590	Armadillo-type fold (1);	0.000000	0.64402	D	0.000006	T	0.45175	0.1329	M	0.69248	2.105	0.49687	D	0.999812	P;D	0.67145	0.81;0.996	B;P	0.57620	0.23;0.824	T	0.08006	-1.0743	10	0.20046	T	0.44	-15.1675	19.9157	0.97061	0.0:0.0:1.0:0.0	.	100;150	Q9H2T7;B4DQG2	RBP17_HUMAN;.	S	100;18;18	ENSP00000427975:A100S	ENSP00000373770:A100S	A	+	1	0	RANBP17	170252010	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.563000	0.82314	2.813000	0.96785	0.561000	0.74099	GCT	RANBP17	-	superfamily_ARM-type_fold	ENSG00000204764		0.403	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	HGNC	protein_coding	OTTHUMT00000372036.1	-	0.00	59	0	G	NM_022897		170319432	+1	tier1	-	no_errors	ENST00000523189	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
RANBP2	5903	genome.wustl.edu	37	2	109368085	109368085	+	Silent	SNP	G	G	A	rs559137643		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:109368085G>A	ENST00000283195.6	+	11	1683	c.1557G>A	c.(1555-1557)gtG>gtA	p.V519V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	519					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.V519V(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCCTTCCTGTGTGTAAACAGC	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		17767	0.0		0.0	False		,,,				2504	0.001																2	Substitution - coding silent(2)	kidney(2)											29.0	33.0	32.0					2																	109368085		1041	2139	3180	SO:0001819	synonymous_variant	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1557G>A	2.37:g.109368085G>A			Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.V519	ENST00000283195.6	37	c.1557	CCDS2079.1	2																																																																																			RANBP2	-	NULL	ENSG00000153201		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1		0.00	92	0	G	NM_006267		109368085	+1			no_errors	ENST00000283195	ensembl	human	known	74_37	silent	12.50	98	14	SNP	0.942	A
RANBP2	5903	genome.wustl.edu	37	2	109371641	109371641	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:109371641A>G	ENST00000283195.6	+	17	2518	c.2392A>G	c.(2392-2394)Aaa>Gaa	p.K798E		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	798					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTATTCTCCCAAAACACCACC	0.323																																																	0													120.0	142.0	134.0					2																	109371641		2188	4295	6483	SO:0001583	missense	0			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2392A>G	2.37:g.109371641A>G	ENSP00000283195:p.Lys798Glu		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.K798E	ENST00000283195.6	37	c.2392	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	a	17.70	3.455319	0.63401	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.30182	1.54	5.8	5.8	0.92144	.	.	.	.	.	T	0.27489	0.0675	N	0.20986	0.625	0.31506	N	0.664222	P	0.45348	0.856	B	0.43754	0.43	T	0.16247	-1.0409	9	0.39692	T	0.17	-12.6019	16.1496	0.81605	1.0:0.0:0.0:0.0	.	798	P49792	RBP2_HUMAN	E	798	ENSP00000283195:K798E	ENSP00000283195:K798E	K	+	1	0	RANBP2	108738073	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.048000	0.89442	2.210000	0.71456	0.443000	0.29094	AAA	RANBP2	-	NULL	ENSG00000153201		0.323	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	-	0.00	273	0	A	NM_006267		109371641	+1	tier1	-	no_errors	ENST00000283195	ensembl	human	known	74_37	missense	9.95	344	38	SNP	1.000	G
RANGAP1	5905	genome.wustl.edu	37	22	41677046	41677046	+	Start_Codon_SNP	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:41677046C>A	ENST00000455915.2	-	1	1472	c.3G>T	c.(1-3)atG>atT	p.M1I	RANGAP1_ENST00000405486.1_Start_Codon_SNP_p.M1I|RANGAP1_ENST00000356244.3_Start_Codon_SNP_p.M1I|RANGAP1_ENST00000407260.4_5'Flank			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	1					mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCCGAGGCCATGTTGACTA	0.572																																																	0													68.0	63.0	65.0					22																	41677046		2203	4300	6503	SO:0001582	initiator_codon_variant	0			X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.3G>T	22.37:g.41677046C>A	ENSP00000401470:p.Met1Ile		Q96JJ2	Missense_Mutation	SNP	pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.M1I	ENST00000455915.2	37	c.3	CCDS14012.1	22	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303445	0.81136	.	.	ENSG00000100401	ENST00000405486;ENST00000356244;ENST00000405383;ENST00000455915;ENST00000452543;ENST00000418067;ENST00000422838	T;T;T;T	0.51574	0.7;0.7;0.7;0.8	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	.	.	.	0.80722	D	1	D	0.64830	0.994	P	0.59056	0.851	T	0.64812	-0.6319	9	0.42905	T	0.14	-34.9169	18.9173	0.92510	0.0:1.0:0.0:0.0	.	1	P46060	RAGP1_HUMAN	I	1	ENSP00000385866:M1I;ENSP00000348577:M1I;ENSP00000401470:M1I;ENSP00000394787:M1I	ENSP00000348577:M1I	M	-	3	0	RANGAP1	40006992	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	6.497000	0.73674	2.567000	0.86603	0.556000	0.70494	ATG	RANGAP1	-	NULL	ENSG00000100401		0.572	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RANGAP1	HGNC	protein_coding	OTTHUMT00000320606.1	-	0.00	37	0	C	NM_002883	Missense_Mutation	41677046	-1	tier1	-	no_errors	ENST00000356244	ensembl	human	known	74_37	missense	39.53	26	17	SNP	1.000	A
RAPGEF1	2889	genome.wustl.edu	37	9	134464198	134464198	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:134464198delC	ENST00000372189.3	-	17	2608	c.2485delG	c.(2485-2487)gtafs	p.V829fs	RAPGEF1_ENST00000372190.3_Frame_Shift_Del_p.V847fs|RAPGEF1_ENST00000372195.1_Frame_Shift_Del_p.V846fs	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	829					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTGGCTGCTACCCCCCGGGCT	0.657																																																	0													21.0	25.0	24.0					9																	134464198		2016	4171	6187	SO:0001589	frameshift_variant	0			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.2485delG	9.37:g.134464198delC	ENSP00000361263:p.Val829fs		Q5JUE4|Q8IV73	Frame_Shift_Del	DEL	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.V847fs	ENST00000372189.3	37	c.2539	CCDS48047.1	9																																																																																			RAPGEF1	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N	ENSG00000107263		0.657	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2		0.00	162	0	C	NM_005312		134464198	-1	tier1		no_errors	ENST00000372190	ensembl	human	known	74_37	frame_shift_del	44.95	60	49	DEL	0.997	-
RAPGEF1	2889	genome.wustl.edu	37	9	134504583	134504583	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:134504583T>C	ENST00000372189.3	-	7	871	c.748A>G	c.(748-750)Atg>Gtg	p.M250V	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.M268V|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.M267V|RAPGEF1_ENST00000481260.1_5'UTR	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	250					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GACTGTGACATCCCAGTCGTC	0.552																																																	0													110.0	115.0	113.0					9																	134504583		1962	4138	6100	SO:0001583	missense	0			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.748A>G	9.37:g.134504583T>C	ENSP00000361263:p.Met250Val		Q5JUE4|Q8IV73	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.M268V	ENST00000372189.3	37	c.802	CCDS48047.1	9	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.273304	0.00257	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.36699	1.24;1.24;1.24	5.56	-3.52	0.04682	.	3.222360	0.00559	N	0.000269	T	0.21387	0.0515	L	0.27053	0.805	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.31503	-0.9941	10	0.02654	T	1	.	7.7168	0.28708	0.0:0.1436:0.4592:0.3972	.	267;250;268	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	V	250;267;144;250;268;230;176;267	ENSP00000361269:M267V;ENSP00000361263:M250V;ENSP00000361264:M268V	ENSP00000266110:M250V	M	-	1	0	RAPGEF1	133494404	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.304000	0.08199	-0.953000	0.03645	-0.408000	0.06270	ATG	RAPGEF1	-	NULL	ENSG00000107263		0.552	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	-	0.00	120	0	T	NM_005312		134504583	-1	tier1	-	no_errors	ENST00000372190	ensembl	human	known	74_37	missense	28.57	80	32	SNP	0.008	C
RARG	5916	genome.wustl.edu	37	12	53613976	53613977	+	Intron	INS	-	-	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:53613976_53613977insG	ENST00000425354.2	-	4	672				RARG_ENST00000394426.1_Intron|RARG_ENST00000338561.5_5'UTR|RARG_ENST00000543762.1_Intron|RARG_ENST00000327550.3_Intron|RARG_ENST00000543726.1_Frame_Shift_Ins_p.C9fs	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma						anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	CCGCTCCAGCAGGGGGGGAGGG	0.708																																																	0																																										SO:0001627	intron_variant	0			M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.185-4398->C	12.37:g.53613983_53613983dupG			B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Frame_Shift_Ins	INS	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4	p.C8fs	ENST00000425354.2	37	c.25_24	CCDS8850.1	12																																																																																			RARG	-	NULL	ENSG00000172819		0.708	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RARG	HGNC	protein_coding	OTTHUMT00000109404.2		0.00	49	0	-	NM_000966		53613977	-1	tier1		no_errors	ENST00000543726	ensembl	human	known	74_37	frame_shift_ins	25.64	29	10	INS	0.999:1.000	G
RASGRF1	5923	genome.wustl.edu	37	15	79292168	79292168	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:79292168G>T	ENST00000419573.3	-	18	2985	c.2711C>A	c.(2710-2712)tCt>tAt	p.S904Y	RASGRF1_ENST00000394745.3_Missense_Mutation_p.S120Y|RASGRF1_ENST00000558480.2_Missense_Mutation_p.S888Y|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	904					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCAAAGGCAGAGGCGGCCGA	0.562																																																	0													142.0	115.0	124.0					15																	79292168		2196	4293	6489	SO:0001583	missense	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2711C>A	15.37:g.79292168G>T	ENSP00000405963:p.Ser904Tyr		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S904Y	ENST00000419573.3	37	c.2711	CCDS10309.1	15	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253712	0.80135	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.64803	-0.12;0.27	4.34	4.34	0.51931	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.371203	0.26341	N	0.024940	T	0.74374	0.3708	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	P;D;D;D	0.91635	0.866;0.999;0.959;0.999	T	0.73228	-0.4049	10	0.02654	T	1	.	14.3634	0.66789	0.0:0.0:1.0:0.0	.	300;888;906;888	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	Y	904;888;120	ENSP00000405963:S904Y;ENSP00000378228:S120Y	ENSP00000378224:S888Y	S	-	2	0	RASGRF1	77079223	1.000000	0.71417	0.734000	0.30879	0.893000	0.52053	8.927000	0.92846	2.236000	0.73375	0.591000	0.81541	TCT	RASGRF1	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N	ENSG00000058335		0.562	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	-	0.00	85	0	G	NM_002891		79292168	-1	tier1	-	no_errors	ENST00000419573	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.998	T
RASIP1	54922	genome.wustl.edu	37	19	49238616	49238616	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:49238616T>C	ENST00000222145.4	-	4	1220	c.1016A>G	c.(1015-1017)cAg>cGg	p.Q339R	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	339					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCGCTCCTGCTGCCGCCGCCG	0.657																																																	0													21.0	22.0	22.0					19																	49238616		2201	4298	6499	SO:0001583	missense	0			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1016A>G	19.37:g.49238616T>C	ENSP00000222145:p.Gln339Arg		Q6U676	Missense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc	p.Q339R	ENST00000222145.4	37	c.1016	CCDS12731.1	19	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046298	0.55110	.	.	ENSG00000105538	ENST00000222145	T	0.07216	3.21	5.27	5.27	0.74061	.	0.309004	0.30901	N	0.008659	T	0.09069	0.0224	L	0.40543	1.245	0.30641	N	0.75642	P	0.37864	0.61	B	0.37989	0.262	T	0.04509	-1.0946	10	0.48119	T	0.1	-10.7772	11.8741	0.52537	0.0:0.0:0.0:1.0	.	339	Q5U651	RAIN_HUMAN	R	339	ENSP00000222145:Q339R	ENSP00000222145:Q339R	Q	-	2	0	RASIP1	53930428	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.450000	0.35134	2.126000	0.65437	0.459000	0.35465	CAG	RASIP1	-	NULL	ENSG00000105538		0.657	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASIP1	HGNC	protein_coding	OTTHUMT00000466185.1	-	0.00	102	0	T	NM_017805		49238616	-1	tier1	-	no_errors	ENST00000222145	ensembl	human	known	74_37	missense	34.33	44	23	SNP	1.000	C
RASL10B	91608	genome.wustl.edu	37	17	34067487	34067487	+	Silent	SNP	C	C	T	rs377684342		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:34067487C>T	ENST00000268864.3	+	3	653	c.276C>T	c.(274-276)taC>taT	p.Y92Y		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	92	Small GTPase-like.				GTP catabolic process (GO:0006184)|positive regulation of peptide hormone secretion (GO:0090277)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCCTGGTCTACGACATCTGCT	0.582																																																	0								C		0,4406		0,0,2203	102.0	85.0	91.0		276	1.9	1.0	17		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RASL10B	NM_033315.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		92/204	34067487	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			BC041133	CCDS11297.1	17q21.1	2014-05-09			ENSG00000141150	ENSG00000270885			30295	protein-coding gene	gene with protein product		612128				12477932	Standard	NM_033315		Approved	VTS58635, RRP17	uc002hju.3	Q96S79	OTTHUMG00000188385	ENST00000268864.3:c.276C>T	17.37:g.34067487C>T			B3KV31	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.Y92	ENST00000268864.3	37	c.276	CCDS11297.1	17																																																																																			RASL10B	-	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type	ENSG00000141150		0.582	RASL10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASL10B	HGNC	protein_coding	OTTHUMT00000256498.2	-	0.00	99	0	C	NM_033315		34067487	+1	tier1	-	no_errors	ENST00000268864	ensembl	human	known	74_37	silent	46.39	52	45	SNP	1.000	T
RASSF2	9770	genome.wustl.edu	37	20	4771179	4771179	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:4771179C>T	ENST00000379400.3	-	7	650	c.455G>A	c.(454-456)cGt>cAt	p.R152H	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R152H	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	152					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R152H(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CACATTGCCACGGCGACGCAC	0.597																																					Melanoma(158;1891 3343 50738)												1	Substitution - Missense(1)	endometrium(1)											110.0	82.0	92.0					20																	4771179		2203	4300	6503	SO:0001583	missense	0			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.455G>A	20.37:g.4771179C>T	ENSP00000368710:p.Arg152His		A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom	p.R152H	ENST00000379400.3	37	c.455	CCDS13083.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.508628	0.96386	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.12039	2.72;2.72	5.2	5.2	0.72013	.	0.053822	0.85682	D	0.000000	T	0.41949	0.1181	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	T	0.42224	-0.9464	10	0.72032	D	0.01	.	17.4783	0.87667	0.0:1.0:0.0:0.0	.	152	P50749	RASF2_HUMAN	H	152	ENSP00000368710:R152H;ENSP00000368684:R152H	ENSP00000368684:R152H	R	-	2	0	RASSF2	4719179	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.402000	0.79972	2.706000	0.92434	0.563000	0.77884	CGT	RASSF2	-	NULL	ENSG00000101265		0.597	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF2	HGNC	protein_coding	OTTHUMT00000077828.1	-	0.00	17	0	C	NM_014737		4771179	-1	tier1	-	no_errors	ENST00000379376	ensembl	human	known	74_37	missense	56.25	7	9	SNP	1.000	T
RAVER1	125950	genome.wustl.edu	37	19	10434093	10434093	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:10434093delG	ENST00000293677.6	-	4	1038	c.957delC	c.(955-957)cccfs	p.P319fs	CTD-2369P2.12_ENST00000586529.1_5'Flank	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	302	Interaction with PTBP1. {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TACTGCGGCCGGGGGGCCCAG	0.716																																																	0													10.0	14.0	12.0					19																	10434093		1946	4134	6080	SO:0001589	frameshift_variant	0				CCDS45960.1	19p13.2	2013-02-12				ENSG00000161847		"""RNA binding motif (RRM) containing"""	30296	protein-coding gene	gene with protein product		609950				11853319, 11724819	Standard	NM_133452		Approved	KIAA1978	uc002moa.3	Q8IY67		ENST00000293677.6:c.957delC	19.37:g.10434093delG	ENSP00000293677:p.Pro319fs		A6NMU4|Q8IY60|Q8TF24	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G320fs	ENST00000293677.6	37	c.957	CCDS45960.1	19																																																																																			RAVER1	-	NULL	ENSG00000161847		0.716	RAVER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAVER1	HGNC	protein_coding	OTTHUMT00000451227.1		0.00	35	0	G	NM_133452		10434093	-1	tier1		no_errors	ENST00000293677	ensembl	human	known	74_37	frame_shift_del	43.48	13	10	DEL	0.211	-
RB1	5925	genome.wustl.edu	37	13	48916753	48916753	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:48916753delA	ENST00000267163.4	+	3	421	c.283delA	c.(283-285)aaafs	p.K96fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	96					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TATTCAAAAGAAAAAGGAACT	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	20	Whole gene deletion(15)|Unknown(5)	bone(10)|breast(6)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CM061928	RB1	M							79.0	89.0	86.0					13																	48916753		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.283delA	13.37:g.48916753delA	ENSP00000267163:p.Lys96fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.K96fs	ENST00000267163.4	37	c.283	CCDS31973.1	13																																																																																			RB1	-	superfamily_Cyclin-like	ENSG00000139687		0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1		0.00	63	0	A			48916753	+1	tier1		no_errors	ENST00000267163	ensembl	human	known	74_37	frame_shift_del	47.00	53	47	DEL	1.000	-
RB1	5925	genome.wustl.edu	37	13	48916752	48916752	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:48916752G>A	ENST00000267163.4	+	3	420	c.282G>A	c.(280-282)aaG>aaA	p.K94K		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	94					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATATTCAAAAGAAAAAGGAAC	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	20	Whole gene deletion(15)|Unknown(5)	bone(10)|breast(6)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											78.0	88.0	85.0					13																	48916752		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.282G>A	13.37:g.48916752G>A			A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.K94	ENST00000267163.4	37	c.282	CCDS31973.1	13																																																																																			RB1	-	superfamily_Cyclin-like	ENSG00000139687		0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1		0.00	62	0	G			48916752	+1			no_errors	ENST00000267163	ensembl	human	known	74_37	silent	7.07	90	7	SNP	1.000	A
RB1	5925	genome.wustl.edu	37	13	48955496	48955496	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:48955496G>T	ENST00000267163.4	+	17	1750	c.1612G>T	c.(1612-1614)Gca>Tca	p.A538S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	538	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTTTATCAAAGCAGAAGGCAA	0.343		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	23	Whole gene deletion(15)|Unknown(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											75.0	70.0	72.0					13																	48955496		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1612G>T	13.37:g.48955496G>T	ENSP00000267163:p.Ala538Ser		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.A538S	ENST00000267163.4	37	c.1612	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141256	0.57044	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.87571	-2.27	5.34	5.34	0.76211	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.116434	0.64402	D	0.000019	D	0.86732	0.6003	L	0.33093	0.98	0.52099	D	0.999948	B	0.27229	0.172	B	0.41412	0.356	D	0.83383	0.0013	10	0.36615	T	0.2	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	538	P06400	RB_HUMAN	S	517;538	ENSP00000267163:A538S	ENSP00000267163:A538S	A	+	1	0	RB1	47853497	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.488000	0.83962	0.650000	0.86243	GCA	RB1	-	pfam_RB_A,superfamily_Cyclin-like	ENSG00000139687		0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	-	0.00	30	0	G			48955496	+1	tier1	-	no_errors	ENST00000267163	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T
RBBP6	5930	genome.wustl.edu	37	16	24578711	24578711	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:24578711A>G	ENST00000319715.4	+	15	2269	c.1837A>G	c.(1837-1839)Aca>Gca	p.T613A	RBBP6_ENST00000348022.2_Missense_Mutation_p.T613A|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	613					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CAATTTATCAACACCTTGGGT	0.517																																																	0													208.0	213.0	211.0					16																	24578711		2197	4300	6497	SO:0001583	missense	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.1837A>G	16.37:g.24578711A>G	ENSP00000317872:p.Thr613Ala		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.T613A	ENST00000319715.4	37	c.1837	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	A	8.825	0.938418	0.18206	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.13307	2.6;2.6	5.9	1.19	0.21007	.	0.245191	0.32753	N	0.005690	T	0.05044	0.0135	N	0.11560	0.145	0.25274	N	0.989495	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.43410	-0.9393	10	0.07990	T	0.79	-4.4632	5.8152	0.18488	0.5561:0.0:0.3212:0.1227	.	613;613	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	A	613	ENSP00000317872:T613A;ENSP00000316291:T613A	ENSP00000317872:T613A	T	+	1	0	RBBP6	24486212	0.946000	0.32159	0.923000	0.36655	0.965000	0.64279	1.051000	0.30417	-0.067000	0.12976	0.460000	0.39030	ACA	RBBP6	-	NULL	ENSG00000122257		0.517	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	-	0.00	46	0	A	NM_006910		24578711	+1	tier1	-	no_errors	ENST00000319715	ensembl	human	known	74_37	missense	40.00	24	16	SNP	0.406	G
RBBP8	5932	genome.wustl.edu	37	18	20596862	20596862	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:20596862G>T	ENST00000399722.2	+	17	2780	c.2429G>T	c.(2428-2430)gGg>gTg	p.G810V	RBBP8_ENST00000581687.1_5'UTR|RBBP8_ENST00000360790.5_Missense_Mutation_p.G815V|RBBP8_ENST00000399725.2_Intron|RBBP8_ENST00000327155.5_Missense_Mutation_p.G810V	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	810					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.G810V(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAACTGCTTGGGCACACGTGT	0.318								Homologous recombination																																									1	Substitution - Missense(1)	endometrium(1)											107.0	109.0	108.0					18																	20596862		2203	4300	6503	SO:0001583	missense	0			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2429G>T	18.37:g.20596862G>T	ENSP00000382628:p.Gly810Val		A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.G810V	ENST00000399722.2	37	c.2429	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	g	21.1	4.093801	0.76870	.	.	ENSG00000101773	ENST00000327155;ENST00000399722;ENST00000360790	T;T;T	0.63096	-0.02;-0.02;-0.01	5.33	4.46	0.54185	.	0.110694	0.64402	D	0.000008	T	0.80783	0.4689	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84031	0.0359	10	0.87932	D	0	-7.3178	13.0342	0.58860	0.0777:0.0:0.9223:0.0	.	815;810	E7ETY1;Q99708	.;COM1_HUMAN	V	810;810;815	ENSP00000323050:G810V;ENSP00000382628:G810V;ENSP00000354024:G815V	ENSP00000323050:G810V	G	+	2	0	RBBP8	18850860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.252000	0.78309	1.253000	0.44018	0.637000	0.83480	GGG	RBBP8	-	pfam_DNA-repair_Sae2/CtIP	ENSG00000101773		0.318	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1		0.00	37	0	G	NM_203291		20596862	+1			no_errors	ENST00000327155	ensembl	human	known	74_37	missense	6.45	29	2	SNP	1.000	T
RBM24	221662	genome.wustl.edu	37	6	17292449	17292449	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:17292449delA	ENST00000379052.5	+	0	1046				RBM24_ENST00000425446.2_3'UTR|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000318204.5_3'UTR	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24						cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			TAACAGCTTTAAAAAAAAAAA	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.*99A>-	6.37:g.17292449delA			E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	RNA	DEL	-	NULL	ENST00000379052.5	37	NULL	CCDS47378.1	6																																																																																			RBM24	-	-	ENSG00000112183		0.343	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM24	HGNC	protein_coding	OTTHUMT00000039946.2		0.00	12	0	A	NM_153020		17292449	+1	tier1		no_errors	ENST00000508508	ensembl	human	known	74_37	rna	46.15	7	6	DEL	0.915	-
RBM27	54439	genome.wustl.edu	37	5	145583379	145583379	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:145583379G>T	ENST00000265271.5	+	1	217	c.51G>T	c.(49-51)ctG>ctT	p.L17L	RBM27_ENST00000506502.1_Silent_p.L17L	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	17					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAAGTTACTGGAGCCGATGT	0.721																																																	0													10.0	11.0	11.0					5																	145583379		1287	2990	4277	SO:0001819	synonymous_variant	0			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.51G>T	5.37:g.145583379G>T			Q8IYW9	Silent	SNP	pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.L17	ENST00000265271.5	37	c.51	CCDS43378.1	5																																																																																			RBM27	-	pfam_PWI_dom	ENSG00000091009		0.721	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	-	0.00	48	0	G	XM_291128		145583379	+1	tier1	-	no_errors	ENST00000265271	ensembl	human	known	74_37	silent	15.00	17	3	SNP	1.000	T
RBM27	54439	genome.wustl.edu	37	5	145647320	145647320	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:145647320delA	ENST00000265271.5	+	15	2606	c.2440delA	c.(2440-2442)aaafs	p.K816fs	RBM27_ENST00000506502.1_Frame_Shift_Del_p.K761fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	816					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K816fs*5(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAGTGCTTAAAAAAAAACA	0.348																																																	1	Deletion - Frameshift(1)	ovary(1)											79.0	73.0	75.0					5																	145647320		1568	3582	5150	SO:0001589	frameshift_variant	0			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2440delA	5.37:g.145647320delA	ENSP00000265271:p.Lys816fs		Q8IYW9	Frame_Shift_Del	DEL	pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.K816fs	ENST00000265271.5	37	c.2440	CCDS43378.1	5																																																																																			RBM27	-	NULL	ENSG00000091009		0.348	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1		0.00	31	0	A	XM_291128		145647320	+1	tier1		no_errors	ENST00000265271	ensembl	human	known	74_37	frame_shift_del	38.64	27	17	DEL	1.000	-
RBM46	166863	genome.wustl.edu	37	4	155749056	155749056	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:155749056delC	ENST00000281722.3	+	5	1674	c.1439delC	c.(1438-1440)tccfs	p.S480fs	RBM46_ENST00000510397.1_3'UTR	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	480							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AATAGTCTTTCCCCTGTTAGT	0.378																																																	0													185.0	190.0	188.0					4																	155749056		2203	4300	6503	SO:0001589	frameshift_variant	0			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.1439delC	4.37:g.155749056delC	ENSP00000281722:p.Ser480fs		B3KWU8|B4DZ27	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.P481fs	ENST00000281722.3	37	c.1439	CCDS3790.1	4																																																																																			RBM46	-	NULL	ENSG00000151962		0.378	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM46	HGNC	protein_coding	OTTHUMT00000365259.1		0.00	53	0	C	NM_144979		155749056	+1	tier1		no_errors	ENST00000281722	ensembl	human	known	74_37	frame_shift_del	31.11	31	14	DEL	1.000	-
RBM47	54502	genome.wustl.edu	37	4	40434715	40434715	+	Missense_Mutation	SNP	C	C	T	rs564837143|rs528269773	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:40434715C>T	ENST00000381793.2	-	5	1891	c.1495G>A	c.(1495-1497)Gcc>Acc	p.A499T	RBM47_ENST00000514014.1_Missense_Mutation_p.A461T|RBM47_ENST00000295971.7_Missense_Mutation_p.A499T|RBM47_ENST00000381795.6_Missense_Mutation_p.A430T|RBM47_ENST00000515809.1_5'Flank|RBM47_ENST00000319592.4_Missense_Mutation_p.A430T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	499	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						gcggctgcggcggctgcggcc	0.577																																																	0													32.0	37.0	35.0					4																	40434715		2202	4300	6502	SO:0001583	missense	0			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1495G>A	4.37:g.40434715C>T	ENSP00000371212:p.Ala499Thr		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.A499T	ENST00000381793.2	37	c.1495	CCDS43223.1	4	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369908	0.42003	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014	T;T;T;T;T	0.20598	2.06;2.21;2.06;2.21;2.23	2.46	2.46	0.29980	.	0.049593	0.85682	D	0.000000	T	0.33030	0.0849	L	0.40543	1.245	0.51012	D	0.999902	D;B	0.89917	1.0;0.01	D;B	0.79108	0.992;0.002	T	0.03403	-1.1040	10	0.29301	T	0.29	-16.2661	12.8917	0.58076	0.0:1.0:0.0:0.0	.	430;499	A0AV96-2;A0AV96	.;RBM47_HUMAN	T	430;499;430;499;461	ENSP00000320108:A430T;ENSP00000371212:A499T;ENSP00000371214:A430T;ENSP00000295971:A499T;ENSP00000423243:A461T	ENSP00000295971:A499T	A	-	1	0	RBM47	40129472	0.984000	0.35163	0.088000	0.20740	0.007000	0.05969	2.634000	0.46528	1.358000	0.45922	0.491000	0.48974	GCC	RBM47	-	tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000163694		0.577	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM47	HGNC	protein_coding	OTTHUMT00000250456.2	-	0.00	59	0	C	NM_019027		40434715	-1	tier1	-	no_errors	ENST00000295971	ensembl	human	known	74_37	missense	42.19	37	27	SNP	0.953	T
RBM48	84060	genome.wustl.edu	37	7	92164373	92164373	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:92164373delT	ENST00000265732.5	+	4	1058				RBM48_ENST00000481551.1_Frame_Shift_Del_p.I369fs	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48							nucleus (GO:0005634)	RNA binding (GO:0003723)										AGTACTGTAATTTTTTTTCAC	0.259																																																	0																																										SO:0001627	intron_variant	0			AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.1017+89T>-	7.37:g.92164373delT			B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Frame_Shift_Del	DEL	NULL	p.H372fs	ENST00000265732.5	37	c.1106	CCDS43615.1	7																																																																																			RBM48	-	NULL	ENSG00000127993		0.259	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM48	HGNC	protein_coding	OTTHUMT00000356076.1		0.00	70	0	T	NM_032120		92164373	+1	tier1		no_errors	ENST00000481551	ensembl	human	novel	74_37	frame_shift_del	10.00	54	6	DEL	0.000	-
RBM6	10180	genome.wustl.edu	37	3	50005144	50005145	+	Frame_Shift_Ins	INS	-	-	G	rs141234052	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:50005144_50005145insG	ENST00000266022.4	+	3	545_546	c.286_287insG	c.(286-288)aggfs	p.R96fs	RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000442092.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	96					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACATGATTTCAGGGGGGGAGAT	0.495																																																	0																																										SO:0001589	frameshift_variant	0			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.293dupG	3.37:g.50005151_50005151dupG	ENSP00000266022:p.Arg96fs		O60549|O75524|Q86SS3	Frame_Shift_Ins	INS	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.D99fs	ENST00000266022.4	37	c.286_287	CCDS2809.1	3																																																																																			RBM6	-	NULL	ENSG00000004534		0.495	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4		0.00	31	0	-	NM_005777		50005145	+1	tier1		no_errors	ENST00000266022	ensembl	human	known	74_37	frame_shift_ins	25.81	23	8	INS	1.000:1.000	G
RBM6	10180	genome.wustl.edu	37	3	50099450	50099450	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:50099450delA	ENST00000266022.4	+	15	2754	c.2495delA	c.(2494-2496)gaafs	p.E832fs	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Frame_Shift_Del_p.E174fs|RBM6_ENST00000443081.1_Frame_Shift_Del_p.E700fs|RBM6_ENST00000422955.1_Frame_Shift_Del_p.E310fs|RBM6_ENST00000442092.1_Frame_Shift_Del_p.E310fs	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	832					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GAGATCAAGGAAAAAAAACCC	0.428																																																	0													101.0	98.0	99.0					3																	50099450		2203	4300	6503	SO:0001589	frameshift_variant	0			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.2495delA	3.37:g.50099450delA	ENSP00000266022:p.Glu832fs		O60549|O75524|Q86SS3	Frame_Shift_Del	DEL	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.K834fs	ENST00000266022.4	37	c.2495	CCDS2809.1	3																																																																																			RBM6	-	NULL	ENSG00000004534		0.428	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4		0.00	40	0	A	NM_005777		50099450	+1	tier1		no_errors	ENST00000266022	ensembl	human	known	74_37	frame_shift_del	32.56	29	14	DEL	1.000	-
RBMS1	5937	genome.wustl.edu	37	2	161131038	161131039	+	3'UTR	DEL	TT	TT	-	rs142283414	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:161131038_161131039delTT	ENST00000348849.3	-	0	1895_1896				ITGB6_ENST00000485635.1_5'Flank|RBMS1_ENST00000392753.3_3'UTR|RBMS1_ENST00000409075.1_3'UTR|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_3'UTR|RBMS1_ENST00000409972.1_3'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1						DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								ttgttttttgtttttttttttt	0.252																																																	0																																										SO:0001624	3_prime_UTR_variant	0			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.*245AA>-	2.37:g.161131048_161131049delTT			Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	RNA	DEL	-	NULL	ENST00000348849.3	37	NULL	CCDS2213.1	2																																																																																			RBMS1	-	-	ENSG00000153250		0.252	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS1	HGNC	protein_coding	OTTHUMT00000255043.4		0.00	36	0	TT	NM_016836		161131039	-1	tier1		no_errors	ENST00000474820	ensembl	human	known	74_37	rna	25.00	42	14	DEL	0.037:0.044	-
RBMXL1	494115	genome.wustl.edu	37	1	89449509	89449510	+	Start_Codon_Del	DEL	TT	TT	-	rs78548172	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:89449509_89449510delTT	ENST00000321792.5	-	0	427_428				RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000399794.2_Start_Codon_Del	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										GCTTCAACCATTTTTTTTTTTG	0.5											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001582	initiator_codon_variant	0			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661		1.37:g.89449517_89449518delTT		1267		Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.M1fs	ENST00000321792.5	37	c.1	CCDS716.1	1																																																																																			RBMXL1	-	NULL	ENSG00000213516		0.500	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3		0.00	51	0	TT	NM_019610		89449510	-1	tier1		no_errors	ENST00000321792	ensembl	human	known	74_37	frame_shift_del	56.14	25	32	DEL	0.986	-
RC3H2	54542	genome.wustl.edu	37	9	125621075	125621075	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:125621075G>T	ENST00000373670.1	-	11	2756	c.2156C>A	c.(2155-2157)cCa>cAa	p.P719Q	RC3H2_ENST00000423239.2_Missense_Mutation_p.P719Q|RC3H2_ENST00000357244.2_Missense_Mutation_p.P719Q			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	719					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CACATCCATTGGAGGTAAAGA	0.453																																																	0													131.0	127.0	128.0					9																	125621075		1910	4123	6033	SO:0001583	missense	0			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.2156C>A	9.37:g.125621075G>T	ENSP00000362774:p.Pro719Gln		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.P719Q	ENST00000373670.1	37	c.2156	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739212	0.69304	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.50813	0.73;0.73;0.76	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.987;0.998	T	0.58787	-0.7575	10	0.56958	D	0.05	-18.9801	17.0106	0.86405	0.0:0.0:1.0:0.0	.	719;719	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	Q	719;719;590;719	ENSP00000362774:P719Q;ENSP00000349783:P719Q;ENSP00000411767:P719Q	ENSP00000349783:P719Q	P	-	2	0	RC3H2	124660896	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.249000	0.65427	2.697000	0.92050	0.655000	0.94253	CCA	RC3H2	-	NULL	ENSG00000056586		0.453	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	-	0.00	62	0	G	NM_018835		125621075	-1	tier1	-	no_errors	ENST00000357244	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T
RC3H2	54542	genome.wustl.edu	37	9	125621243	125621243	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:125621243G>T	ENST00000373670.1	-	11	2588	c.1988C>A	c.(1987-1989)cCt>cAt	p.P663H	RC3H2_ENST00000423239.2_Missense_Mutation_p.P663H|RC3H2_ENST00000357244.2_Missense_Mutation_p.P663H			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	663	Pro-rich.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCGATCTCGAGGGGAAAATGT	0.522																																																	0													115.0	122.0	120.0					9																	125621243		2061	4202	6263	SO:0001583	missense	0			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1988C>A	9.37:g.125621243G>T	ENSP00000362774:p.Pro663His		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.P663H	ENST00000373670.1	37	c.1988	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903866	0.72754	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.50277	0.75;0.75;0.78	5.48	5.48	0.80851	.	0.108239	0.64402	D	0.000004	T	0.52725	0.1752	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.99;0.957	T	0.57323	-0.7831	10	0.49607	T	0.09	-14.9978	16.5001	0.84255	0.0:0.0:1.0:0.0	.	663;663	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	H	663;663;534;663	ENSP00000362774:P663H;ENSP00000349783:P663H;ENSP00000411767:P663H	ENSP00000349783:P663H	P	-	2	0	RC3H2	124661064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.111000	0.71541	2.565000	0.86533	0.561000	0.74099	CCT	RC3H2	-	NULL	ENSG00000056586		0.522	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	-	0.00	55	0	G	NM_018835		125621243	-1	tier1	-	no_errors	ENST00000357244	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
RC3H2	54542	genome.wustl.edu	37	9	125659702	125659702	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:125659702G>T	ENST00000373670.1	-	1	687	c.87C>A	c.(85-87)atC>atA	p.I29I	RC3H2_ENST00000478216.1_Intron|RC3H2_ENST00000373665.2_Silent_p.I29I|RC3H2_ENST00000335387.5_Silent_p.I29I|RC3H2_ENST00000423239.2_Silent_p.I29I|RC3H2_ENST00000357244.2_Silent_p.I29I|RC3H2_ENST00000471874.2_Silent_p.I29I			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	29					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AACCTAAACTGATGGGTTTGT	0.423																																																	0													105.0	99.0	101.0					9																	125659702		1918	4121	6039	SO:0001819	synonymous_variant	0			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.87C>A	9.37:g.125659702G>T			Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Silent	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.I29	ENST00000373670.1	37	c.87	CCDS43874.1	9																																																																																			RC3H2	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000056586		0.423	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	-	0.00	51	0	G	NM_018835		125659702	-1	tier1	-	no_errors	ENST00000357244	ensembl	human	known	74_37	silent	5.56	68	4	SNP	1.000	T
RCBTB2	1102	genome.wustl.edu	37	13	49085916	49085916	+	Missense_Mutation	SNP	C	C	T	rs371016980		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:49085916C>T	ENST00000344532.3	-	9	1196	c.773G>A	c.(772-774)cGt>cAt	p.R258H	RCBTB2_ENST00000430805.2_Missense_Mutation_p.R263H|RCBTB2_ENST00000481144.1_5'Flank|RCBTB2_ENST00000544904.1_Missense_Mutation_p.R234H|RCBTB2_ENST00000544492.1_Missense_Mutation_p.V32M	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	258					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CCTCTGGACACGGATGCCTTG	0.493																																																	0													74.0	63.0	67.0					13																	49085916		2203	4300	6503	SO:0001583	missense	0			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.773G>A	13.37:g.49085916C>T	ENSP00000345144:p.Arg258His		B2RDW8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.R263H	ENST00000344532.3	37	c.788	CCDS9411.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.48|15.48	2.845700|2.845700	0.51164|0.51164	.|.	.|.	ENSG00000136161|ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544904|ENST00000544492	D;D;D|T	0.86297|0.80393	-2.1;-2.1;-2.1|-1.37	5.98|5.98	3.36|3.36	0.38483|0.38483	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);|.	0.182363|.	0.64402|.	N|.	0.000012|.	T|T	0.65698|0.65698	0.2716|0.2716	N|N	0.17838|0.17838	0.53|0.53	0.41969|0.41969	D|D	0.990743|0.990743	B;D;B;D|B	0.55800|0.09022	0.004;0.973;0.004;0.969|0.002	B;P;B;P|B	0.54372|0.04013	0.005;0.75;0.005;0.75|0.001	T|T	0.53746|0.53746	-0.8395|-0.8395	10|9	0.21014|0.19147	T|T	0.42|0.46	.|.	11.4687|11.4687	0.50254|0.50254	0.0:0.8056:0.0:0.1944|0.0:0.8056:0.0:0.1944	.|.	234;263;262;258|32	B4DPP7;B4DWG0;B3KVB1;O95199|B4E372	.;.;.;RCBT2_HUMAN|.	H|M	258;262;263;263;234|32	ENSP00000345144:R258H;ENSP00000389910:R263H;ENSP00000443904:R234H|ENSP00000443862:V32M	ENSP00000345144:R258H|ENSP00000443862:V32M	R|V	-|-	2|1	0|0	RCBTB2|RCBTB2	47983917|47983917	0.999000|0.999000	0.42202|0.42202	0.936000|0.936000	0.37596|0.37596	0.875000|0.875000	0.50365|0.50365	3.681000|3.681000	0.54648|0.54648	0.443000|0.443000	0.26582|0.26582	-0.229000|-0.229000	0.12294|0.12294	CGT|GTG	RCBTB2	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens	ENSG00000136161		0.493	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCBTB2	HGNC	protein_coding	OTTHUMT00000044888.2	-	0.00	40	0	C	NM_001268		49085916	-1	tier1	-	no_errors	ENST00000430805	ensembl	human	known	74_37	missense	32.35	46	22	SNP	0.980	T
RCSD1	92241	genome.wustl.edu	37	1	167653202	167653202	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:167653202C>T	ENST00000367854.3	+	2	403	c.72C>T	c.(70-72)gcC>gcT	p.A24A	RCSD1_ENST00000537350.1_Silent_p.A24A	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	24					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCCAGCTGGCCGGGCGGTTTA	0.597																																																	0													95.0	110.0	105.0					1																	167653202		2203	4300	6503	SO:0001819	synonymous_variant	0			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.72C>T	1.37:g.167653202C>T			B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Silent	SNP	pfam_RCSD	p.A24	ENST00000367854.3	37	c.72	CCDS1263.1	1																																																																																			RCSD1	-	NULL	ENSG00000198771		0.597	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RCSD1	HGNC	protein_coding	OTTHUMT00000085451.1	-	0.00	57	0	C	NM_052862		167653202	+1	tier1	-	no_errors	ENST00000367854	ensembl	human	known	74_37	silent	19.10	72	17	SNP	0.042	T
RCSD1	92241	genome.wustl.edu	37	1	167654702	167654702	+	Frame_Shift_Del	DEL	C	C	-	rs371072929		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:167654702delC	ENST00000367854.3	+	3	484	c.153delC	c.(151-153)ctcfs	p.L51fs	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	51					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCTGTTCCCTCCCCCTGTTCC	0.562																																																	0													89.0	79.0	82.0					1																	167654702		2203	4300	6503	SO:0001589	frameshift_variant	0			BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.153delC	1.37:g.167654702delC	ENSP00000356828:p.Leu51fs		B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Frame_Shift_Del	DEL	pfam_RCSD	p.L53fs	ENST00000367854.3	37	c.153	CCDS1263.1	1																																																																																			RCSD1	-	NULL	ENSG00000198771		0.562	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RCSD1	HGNC	protein_coding	OTTHUMT00000085451.1		0.00	51	0	C	NM_052862		167654702	+1	tier1		no_errors	ENST00000367854	ensembl	human	known	74_37	frame_shift_del	26.03	54	19	DEL	0.994	-
RCVRN	5957	genome.wustl.edu	37	17	9801324	9801325	+	3'UTR	INS	-	-	GT	rs887259	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:9801324_9801325insGT	ENST00000226193.5	-	0	1130_1131				RCVRN_ENST00000570909.3_5'UTR	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin						phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of calcium ion transport (GO:0051924)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	dendrite (GO:0030425)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						tgtgcgcgcgcgtgtgtgtgca	0.579																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC001720	CCDS11151.1	17p13.1	2013-01-10		2006-09-26	ENSG00000109047	ENSG00000109047		"""EF-hand domain containing"""	9937	protein-coding gene	gene with protein product		179618		RCV1		1387789, 12507501, 1467959, 12789533	Standard	NM_002903		Approved		uc002gme.1	P35243	OTTHUMG00000130268	ENST00000226193.5:c.*88->AC	17.37:g.9801331_9801332dupGT			Q53XL0	RNA	INS	-	NULL	ENST00000226193.5	37	NULL	CCDS11151.1	17																																																																																			RCVRN	-	-	ENSG00000109047		0.579	RCVRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCVRN	HGNC	protein_coding	OTTHUMT00000252600.2		0.00	52	0	-	NM_002903		9801325	-1	tier1		no_errors	ENST00000570909	ensembl	human	putative	74_37	rna	12.82	34	5	INS	0.000:0.000	GT
RDH11	51109	genome.wustl.edu	37	14	68157945	68157945	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:68157945G>A	ENST00000381346.4	-	4	476	c.366C>T	c.(364-366)caC>caT	p.H122H	RP11-1012A1.4_ENST00000554493.1_5'Flank|RP11-1012A1.4_ENST00000553306.1_5'Flank|RDH11_ENST00000553384.1_Silent_p.H109H|RDH11_ENST00000428130.2_Silent_p.H122H	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	122					adaptation of rhodopsin mediated signaling (GO:0016062)|phototransduction, visible light (GO:0007603)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|photoreceptor inner segment (GO:0001917)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	TGATCAAAACGTGGAGGTGCT	0.488																																																	0													195.0	175.0	182.0					14																	68157945		2203	4300	6503	SO:0001819	synonymous_variant	0			AF151840	CCDS32104.1, CCDS58326.1	14q24.1	2013-10-15	2006-05-09		ENSG00000072042	ENSG00000072042	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	17964	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 1"", ""androgen-regulated short-chain dehydrogenase/reductase 1"""	607849	"""retinol dehydrogenase 11 (all-trans and 9-cis)"""			12226107, 8018917, 19027726	Standard	NM_016026		Approved	MDT1, SDR7C1, ARSDR1	uc001xjv.4	Q8TC12	OTTHUMG00000171196	ENST00000381346.4:c.366C>T	14.37:g.68157945G>A			A6NDK3|A8K062|B2RB26|B4DDW0|Q0QD40|Q6IAH5|Q9NRW0|Q9Y391	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.H122	ENST00000381346.4	37	c.366	CCDS32104.1	14																																																																																			RDH11	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	ENSG00000072042		0.488	RDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH11	HGNC	protein_coding	OTTHUMT00000412257.3	-	0.00	45	0	G			68157945	-1	tier1	-	no_errors	ENST00000381346	ensembl	human	known	74_37	silent	23.81	32	10	SNP	1.000	A
RDH13	112724	genome.wustl.edu	37	19	55570534	55570534	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:55570534C>T	ENST00000415061.3	-	2	318	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	RDH13_ENST00000396247.3_5'UTR	NM_001145971.1	NP_001139443.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	59					eye photoreceptor cell development (GO:0042462)|response to high light intensity (GO:0009644)|retina layer formation (GO:0010842)	mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CCTCTCCTGGCCAGTTCCAAG	0.582																																																	0													33.0	31.0	32.0					19																	55570534		1568	3580	5148	SO:0001583	missense	0				CCDS42627.1, CCDS54320.1	19q13.42	2011-09-14	2006-05-09			ENSG00000160439	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19978	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 3"""		"""retinol dehydrogenase 13 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_138412		Approved	SDR7C3	uc002qio.3	Q8NBN7		ENST00000415061.3:c.175G>A	19.37:g.55570534C>T	ENSP00000391121:p.Ala59Thr		Q6UX79|Q96G88	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.A59T	ENST00000415061.3	37	c.175	CCDS54320.1	19	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757099	0.69648	.	.	ENSG00000160439	ENST00000415061;ENST00000291892	D;D	0.89552	-2.53;-2.53	5.09	5.09	0.68999	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95332	0.8485	M	0.92555	3.32	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.96091	0.9061	10	0.87932	D	0	.	14.4282	0.67230	0.0:1.0:0.0:0.0	.	59	Q8NBN7	RDH13_HUMAN	T	59	ENSP00000391121:A59T;ENSP00000291892:A59T	ENSP00000291892:A59T	A	-	1	0	RDH13	60262346	1.000000	0.71417	0.999000	0.59377	0.077000	0.17291	5.781000	0.68964	2.565000	0.86533	0.650000	0.86243	GCC	RDH13	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase	ENSG00000160439		0.582	RDH13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH13	HGNC	protein_coding	OTTHUMT00000451470.1	-	0.00	44	0	C	NM_138412		55570534	-1	tier1	-	no_errors	ENST00000415061	ensembl	human	known	74_37	missense	52.08	23	25	SNP	1.000	T
REC8	9985	genome.wustl.edu	37	14	24642145	24642145	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:24642145delC	ENST00000311457.3	+	4	762	c.163delC	c.(163-165)cccfs	p.P56fs	REC8_ENST00000559919.1_Frame_Shift_Del_p.P56fs			O95072	REC8_HUMAN	REC8 meiotic recombination protein	56					double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		ACGAGTGCAACCCCCGCAGCC	0.607																																					NSCLC(139;1764 2537 12868 49041)												0													53.0	63.0	60.0					14																	24642145		2015	4144	6159	SO:0001589	frameshift_variant	0			AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.163delC	14.37:g.24642145delC	ENSP00000308699:p.Pro56fs		A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Frame_Shift_Del	DEL	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu	p.P56fs	ENST00000311457.3	37	c.163	CCDS41932.1	14																																																																																			REC8	-	pfam_Rad21_Rec8_N	ENSG00000100918		0.607	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REC8	HGNC	protein_coding	OTTHUMT00000415889.3		0.00	35	0	C	NM_005132		24642145	+1	tier1		no_errors	ENST00000311457	ensembl	human	known	74_37	frame_shift_del	12.00	22	3	DEL	0.808	-
RECK	8434	genome.wustl.edu	37	9	36112461	36112461	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:36112461delA	ENST00000377966.3	+	16	2614	c.2048delA	c.(2047-2049)caafs	p.Q683fs		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	683					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AATCCCTGCCAAAAAAACCAA	0.418																																																	0													106.0	96.0	99.0					9																	36112461		2203	4300	6503	SO:0001589	frameshift_variant	0			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.2048delA	9.37:g.36112461delA	ENSP00000367202:p.Gln683fs		B2RNS1|Q5W0K6|Q8WX37	Frame_Shift_Del	DEL	pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom	p.N685fs	ENST00000377966.3	37	c.2048	CCDS6597.1	9																																																																																			RECK	-	NULL	ENSG00000122707		0.418	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECK	HGNC	protein_coding	OTTHUMT00000052409.1		0.00	86	0	A			36112461	+1	tier1		no_errors	ENST00000377966	ensembl	human	known	74_37	frame_shift_del	47.06	36	32	DEL	0.002	-
RENBP	5973	genome.wustl.edu	37	X	153209096	153209096	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:153209096C>T	ENST00000393700.3	-	5	444	c.364G>A	c.(364-366)Ggc>Agc	p.G122S	RENBP_ENST00000369997.3_Missense_Mutation_p.G108S|RENBP_ENST00000412763.1_Missense_Mutation_p.G122S|RENBP_ENST00000462086.1_5'Flank	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	122					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ACCGGGCGGCCGTCCCGAGTC	0.607																																																	0													122.0	85.0	98.0					X																	153209096		2203	4300	6503	SO:0001583	missense	0				CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.364G>A	X.37:g.153209096C>T	ENSP00000377303:p.Gly122Ser		B4DNZ3|Q96BI6	Missense_Mutation	SNP	pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like	p.G122S	ENST00000393700.3	37	c.364	CCDS14738.2	X	.	.	.	.	.	.	.	.	.	.	C	33	5.277487	0.95459	.	.	ENSG00000102032	ENST00000393700;ENST00000412763;ENST00000369997	T;T;T	0.39997	1.05;1.12;1.05	4.68	4.68	0.58851	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.73063	0.3539	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81951	-0.0698	10	0.87932	D	0	-21.0219	15.719	0.77694	0.0:1.0:0.0:0.0	.	122;122	P51606-2;P51606	.;RENBP_HUMAN	S	122;122;108	ENSP00000377303:G122S;ENSP00000387811:G122S;ENSP00000359014:G108S	ENSP00000359014:G108S	G	-	1	0	RENBP	152862290	1.000000	0.71417	0.514000	0.27761	0.943000	0.58893	6.683000	0.74533	2.042000	0.60477	0.513000	0.50165	GGC	RENBP	-	pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like	ENSG00000102032		0.607	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RENBP	HGNC	protein_coding	OTTHUMT00000061103.3	-	0.00	31	0	C	NM_002910		153209096	-1	tier1	-	no_errors	ENST00000393700	ensembl	human	known	74_37	missense	82.35	3	14	SNP	1.000	T
RESP18	389075	genome.wustl.edu	37	2	220197269	220197269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:220197269delC	ENST00000333527.5	-	2	208	c.209delG	c.(208-210)ggcfs	p.G70fs	RESP18_ENST00000392083.1_5'UTR	NM_001007089.3	NP_001007090.3	Q5W5W9	RES18_HUMAN	regulated endocrine-specific protein 18	28					in utero embryonic development (GO:0001701)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|rough endoplasmic reticulum lumen (GO:0048237)|secretory granule (GO:0030141)				endometrium(1)|prostate(1)	2						GTCGCTGCAGCCCCCCGGGCA	0.677																																																	0													11.0	16.0	14.0					2																	220197269		691	1588	2279	SO:0001589	frameshift_variant	0			AF437883	CCDS33382.2	2q35	2012-12-07	2012-12-07		ENSG00000182698	ENSG00000182698			33762	protein-coding gene	gene with protein product		612721	"""regulated endocrine-specific protein 18 homolog (rat)"""			17951542, 7988462	Standard	NM_001007089		Approved		uc002vlc.4	Q5W5W9	OTTHUMG00000150223	ENST00000333527.5:c.209delG	2.37:g.220197269delC	ENSP00000330269:p.Gly70fs		A8MQ49|Q38I23|Q5W5X0	Frame_Shift_Del	DEL	NULL	p.G70fs	ENST00000333527.5	37	c.209	CCDS33382.2	2																																																																																			RESP18	-	NULL	ENSG00000182698		0.677	RESP18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	RESP18	HGNC	protein_coding	OTTHUMT00000316885.1		0.00	62	0	C	NM_001007089		220197269	-1	tier1		no_errors	ENST00000333527	ensembl	human	putative	74_37	frame_shift_del	39.53	26	17	DEL	0.055	-
RET	5979	genome.wustl.edu	37	10	43600486	43600486	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:43600486G>A	ENST00000355710.3	+	4	944	c.712G>A	c.(712-714)Gag>Aag	p.E238K	RET_ENST00000340058.5_Missense_Mutation_p.E238K	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	238	Cadherin. {ECO:0000255|PROSITE- ProRule:PRU00043}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGAGAAGTACGAGCTGGTGGC	0.716		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0													32.0	30.0	31.0					10																	43600486		2201	4297	6498	SO:0001583	missense	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.712G>A	10.37:g.43600486G>A	ENSP00000347942:p.Glu238Lys		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin	p.E238K	ENST00000355710.3	37	c.712	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	g	12.87	2.067264	0.36470	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.54071	0.59;0.59	5.01	3.08	0.35506	Cadherin (4);Cadherin-like (1);	0.762936	0.13252	N	0.401964	T	0.44477	0.1295	L	0.47716	1.5	0.09310	N	1	B;B	0.24132	0.098;0.08	B;B	0.24701	0.055;0.033	T	0.28490	-1.0042	10	0.07325	T	0.83	.	14.9226	0.70851	0.0:0.3253:0.6747:0.0	.	238;238	P07949;P07949-2	RET_HUMAN;.	K	238	ENSP00000347942:E238K;ENSP00000344798:E238K	ENSP00000344798:E238K	E	+	1	0	RET	42920492	0.749000	0.28305	0.608000	0.28969	0.899000	0.52679	1.736000	0.38187	0.616000	0.30141	-0.280000	0.10049	GAG	RET	-	pirsf_Tyr_kinase_Ret_rcpt,pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000165731		0.716	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	-	0.00	58	0	G	NM_020975		43600486	+1	tier1	-	no_errors	ENST00000355710	ensembl	human	known	74_37	missense	40.43	28	19	SNP	0.319	A
REV3L	5980	genome.wustl.edu	37	6	111710326	111710326	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:111710326C>T	ENST00000358835.3	-	8	1299	c.845G>A	c.(844-846)aGc>aAc	p.S282N	REV3L_ENST00000435970.1_Missense_Mutation_p.S204N|REV3L_ENST00000368805.1_Missense_Mutation_p.S282N|REV3L_ENST00000368802.3_Missense_Mutation_p.S282N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	282					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTCAGGTTGGCTCATTTGAGA	0.368								DNA polymerases (catalytic subunits)																																									0													229.0	197.0	208.0					6																	111710326		2203	4300	6503	SO:0001583	missense	0			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.845G>A	6.37:g.111710326C>T	ENSP00000351697:p.Ser282Asn		O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.S282N	ENST00000358835.3	37	c.845	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266321	0.40095	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.32988	1.43;1.43;1.43;1.43	5.48	1.47	0.22746	Ribonuclease H-like (1);	0.662303	0.15563	N	0.255807	T	0.10508	0.0257	M	0.68317	2.08	0.20074	N	0.999935	B	0.02656	0.0	B	0.04013	0.001	T	0.25606	-1.0127	10	0.31617	T	0.26	-9.3566	3.31	0.07014	0.1215:0.5456:0.1183:0.2146	.	282	O60673	DPOLZ_HUMAN	N	282;282;282;204	ENSP00000357792:S282N;ENSP00000357795:S282N;ENSP00000351697:S282N;ENSP00000402003:S204N	ENSP00000351697:S282N	S	-	2	0	REV3L	111817019	0.361000	0.24972	0.994000	0.49952	0.935000	0.57460	0.693000	0.25497	0.365000	0.24400	-0.136000	0.14681	AGC	REV3L	-	superfamily_RNaseH-like_dom	ENSG00000009413		0.368	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	-	0.00	82	0	C	NM_002912		111710326	-1	tier1	-	no_errors	ENST00000358835	ensembl	human	known	74_37	missense	8.60	85	8	SNP	0.305	T
REXO2	25996	genome.wustl.edu	37	11	114320750	114320750	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:114320750delT	ENST00000265881.5	+	0	910				REXO2_ENST00000539275.1_3'UTR|REXO2_ENST00000538791.1_3'UTR|REXO2_ENST00000539754.1_3'UTR|REXO2_ENST00000544507.1_3'UTR	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2						nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		CTTCTGGTGGTTTTTTTTTCT	0.423																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043			17851	protein-coding gene	gene with protein product		607149	"""REX2, RNA exonuclease 2 homolog (S. cerevisiae)"""			10851236, 10810093, 23741365	Standard	NM_015523		Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000265881.5:c.*53T>-	11.37:g.114320750delT			B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	RNA	DEL	-	NULL	ENST00000265881.5	37	NULL	CCDS8371.1	11																																																																																			REXO2	-	-	ENSG00000076043		0.423	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO2	HGNC	protein_coding	OTTHUMT00000399087.1		0.00	36	0	T	NM_015523		114320750	+1	tier1		no_errors	ENST00000544507	ensembl	human	putative	74_37	rna	34.48	38	20	DEL	0.000	-
RFX2	5990	genome.wustl.edu	37	19	6010242	6010242	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:6010242G>A	ENST00000303657.5	-	9	1069	c.920C>T	c.(919-921)aCg>aTg	p.T307M	CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Missense_Mutation_p.T307M|RFX2_ENST00000592546.1_Missense_Mutation_p.T282M	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	307					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GAGGCTGTCCGTCTTCTGGGC	0.667																																					Colon(38;171 817 19800 47433 48051)												0													22.0	17.0	18.0					19																	6010242		2020	3830	5850	SO:0001583	missense	0				CCDS12157.1, CCDS12158.1	19p13.3	2011-11-23			ENSG00000087903	ENSG00000087903			9983	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 2"", ""DNA binding protein RFX2"", ""HLA class II regulatory factor RFX2"""	142765				1505960	Standard	NM_000635		Approved	FLJ14226	uc002meb.3	P48378		ENST00000303657.5:c.920C>T	19.37:g.6010242G>A	ENSP00000306335:p.Thr307Met		A8K581|B3KNC4|Q6IQ44|Q8SNA2	Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.T307M	ENST00000303657.5	37	c.920	CCDS12157.1	19	.	.	.	.	.	.	.	.	.	.	G	7.710	0.695013	0.15039	.	.	ENSG00000087903	ENST00000303657;ENST00000359161;ENST00000537791	T	0.63580	-0.05	5.37	2.8	0.32819	.	0.435942	0.27198	N	0.020462	T	0.23727	0.0574	N	0.00633	-1.31	0.25193	N	0.99011	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.16129	-1.0413	10	0.22706	T	0.39	-11.9492	5.0359	0.14434	0.201:0.2:0.599:0.0	.	282;307	P48378-2;P48378	.;RFX2_HUMAN	M	307;282;94	ENSP00000306335:T307M	ENSP00000306335:T307M	T	-	2	0	RFX2	5961242	0.996000	0.38824	0.885000	0.34714	0.847000	0.48162	3.151000	0.50670	1.221000	0.43506	0.561000	0.74099	ACG	RFX2	-	NULL	ENSG00000087903		0.667	RFX2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFX2	HGNC	protein_coding	OTTHUMT00000452687.1	-	0.00	84	0	G	NM_000635		6010242	-1	tier1	-	no_errors	ENST00000303657	ensembl	human	known	74_37	missense	46.28	64	56	SNP	0.999	A
RGS12	6002	genome.wustl.edu	37	4	3432431	3432431	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:3432431delC	ENST00000344733.5	+	17	4767	c.3863delC	c.(3862-3864)accfs	p.T1288fs	RGS12_ENST00000336727.3_Frame_Shift_Del_p.T1288fs|RGS12_ENST00000382788.3_Frame_Shift_Del_p.T1288fs|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000338806.4_Frame_Shift_Del_p.T640fs	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1288					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCTGGGACGACCCCCCCCGGG	0.716																																																	0									,,	42,83,3921		1,0,40,2,79,1901	8.0	10.0	9.0		,,	-0.8	0.0	4		9	90,200,7674		3,0,84,6,188,3701	no	codingComplex,codingComplex,codingComplex	RGS12	NM_198229.2,NM_198227.1,NM_002926.3	,,	4,0,124,8,267,5602	A1A1,A1A2,A1R,A2A2,A2R,RR		3.6414,3.0895,3.4555	,,	,,	3432431	132,283,11595	2152	4241	6393	SO:0001589	frameshift_variant	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3863delC	4.37:g.3432431delC	ENSP00000339381:p.Thr1288fs		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Frame_Shift_Del	DEL	pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.1292fs	ENST00000344733.5	37	c.3863	CCDS3366.1	4																																																																																			RGS12	-	NULL	ENSG00000159788		0.716	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1		0.00	28	0	C	NM_002926		3432431	+1	tier1		no_errors	ENST00000344733	ensembl	human	known	74_37	frame_shift_del	40.00	9	6	DEL	0.000	-
RGS3	5998	genome.wustl.edu	37	9	116276828	116276828	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:116276828G>A	ENST00000374140.2	+	16	1777	c.1568G>A	c.(1567-1569)gGg>gAg	p.G523E	RGS3_ENST00000374136.1_Missense_Mutation_p.G149E|RGS3_ENST00000394646.3_Missense_Mutation_p.G242E|RGS3_ENST00000350696.5_Missense_Mutation_p.G523E|RGS3_ENST00000343817.5_Missense_Mutation_p.G242E|RGS3_ENST00000317613.6_Missense_Mutation_p.G411E	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	523					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AAGGGCCACGGGAACTACCAA	0.567																																																	0													130.0	99.0	109.0					9																	116276828		2203	4300	6503	SO:0001583	missense	0			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1568G>A	9.37:g.116276828G>A	ENSP00000363255:p.Gly523Glu		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.G523E	ENST00000374140.2	37	c.1568	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	G	19.59	3.857072	0.71834	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646;ENST00000374136	T;T;T;T;T	0.67698	0.61;0.61;1.01;0.13;-0.28	5.08	5.08	0.68730	.	0.121240	0.56097	D	0.000028	T	0.66528	0.2798	L	0.27053	0.805	0.80722	D	1	B;P;P;P;P;D	0.61080	0.244;0.876;0.852;0.862;0.9;0.989	B;P;P;P;P;P	0.54100	0.036;0.559;0.474;0.451;0.638;0.742	T	0.71441	-0.4592	10	0.87932	D	0	.	15.9876	0.80174	0.0:0.0:1.0:0.0	.	242;149;242;413;411;523	B3KUB2;Q5VXC0;P49796-4;B3KWG8;P49796-5;P49796	.;.;.;.;.;RGS3_HUMAN	E	523;523;411;242;242;149	ENSP00000363255:G523E;ENSP00000259406:G523E;ENSP00000312844:G411E;ENSP00000340284:G242E;ENSP00000378141:G242E	ENSP00000312844:G411E	G	+	2	0	RGS3	115316649	0.989000	0.36119	0.290000	0.24890	0.976000	0.68499	2.301000	0.43628	2.503000	0.84419	0.561000	0.74099	GGG	RGS3	-	NULL	ENSG00000138835		0.567	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	-	0.00	30	0	G	NM_017790		116276828	+1	tier1	-	no_errors	ENST00000350696	ensembl	human	known	74_37	missense	50.00	11	11	SNP	0.796	A
RGS9BP	388531	genome.wustl.edu	37	19	33167776	33167777	+	Frame_Shift_Del	DEL	GG	GG	-	rs553510893		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:33167776_33167777delGG	ENST00000334176.3	+	1	1464_1465	c.607_608delGG	c.(607-609)gggfs	p.G205fs	ANKRD27_ENST00000306065.4_5'Flank|ANKRD27_ENST00000587352.1_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	205					detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					GCAGGAGCGCGGGGGGGGTTGC	0.743																																																	0																																										SO:0001589	frameshift_variant	0			AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"""regulator of G protein signalling 9 binding protein"""			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.607_608delGG	19.37:g.33167782_33167783delGG	ENSP00000334134:p.Gly205fs		Q6ZVJ6	Frame_Shift_Del	DEL	NULL	p.G205fs	ENST00000334176.3	37	c.607_608	CCDS12424.1	19																																																																																			RGS9BP	-	NULL	ENSG00000186326		0.743	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS9BP	HGNC	protein_coding	OTTHUMT00000450337.1		0.00	17	0	GG	NM_207391		33167777	+1	tier1		no_errors	ENST00000334176	ensembl	human	known	74_37	frame_shift_del	50.00	3	3	DEL	0.000:0.000	-
RGSL1	353299	genome.wustl.edu	37	1	182440500	182440500	+	Intron	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:182440500T>C	ENST00000294854.8	+	5	321				RGSL1_ENST00000542961.1_Missense_Mutation_p.S129P	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1						termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						GCGCTTCTATTCCTACCTCAC	0.502																																					Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)												0													104.0	106.0	106.0					1																	182440500		692	1591	2283	SO:0001627	intron_variant	0			AF510428	CCDS58049.1	1q25	2013-04-02	2007-08-14		ENSG00000121446	ENSG00000121446			18636	protein-coding gene	gene with protein product		611012	"""regulator of G-protein signalling like 1"", ""regulator of G-protein signaling like 2"", ""regulator of G-protein signalling like 2"""	RGSL2		12801632	Standard	NM_001137669		Approved		uc009wxw.3	A5PLK6	OTTHUMG00000035217	ENST00000294854.8:c.302-1031T>C	1.37:g.182440500T>C			A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam	p.S129P	ENST00000294854.8	37	c.385	CCDS58049.1	1																																																																																			RGSL1	-	superfamily_Regulat_G_prot_signal_superfam	ENSG00000121446		0.502	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	RGSL1	HGNC	protein_coding	OTTHUMT00000320710.3	-	0.00	126	0	T	NM_181572		182440500	+1	tier1	-	no_errors	ENST00000443996	ensembl	human	known	74_37	missense	27.45	111	42	SNP	0.552	C
RHOBTB1	9886	genome.wustl.edu	37	10	62645896	62645897	+	Frame_Shift_Ins	INS	-	-	C	rs566098008		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:62645896_62645897insC	ENST00000337910.5	-	7	1885_1886	c.1548_1549insG	c.(1546-1551)gggtcafs	p.S517fs	RHOBTB1_ENST00000357917.4_Frame_Shift_Ins_p.S517fs	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	517	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TCCACAAATGACCCCCCGAACA	0.48																																																	0																																										SO:0001589	frameshift_variant	0			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.1549dupG	10.37:g.62645902_62645902dupC	ENSP00000338671:p.Ser517fs			Frame_Shift_Ins	INS	pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase	p.S516fs	ENST00000337910.5	37	c.1549_1548	CCDS7261.1	10																																																																																			RHOBTB1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000072422		0.480	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB1	HGNC	protein_coding	OTTHUMT00000048220.1		0.00	89	0	-			62645897	-1	tier1		no_errors	ENST00000337910	ensembl	human	known	74_37	frame_shift_ins	30.23	60	26	INS	1.000:0.995	C
RIC3	79608	genome.wustl.edu	37	11	8161539	8161539	+	Frame_Shift_Del	DEL	A	A	-	rs267603218		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:8161539delA	ENST00000309737.6	-	2	325	c.326delT	c.(325-327)ttafs	p.L109fs	RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'Flank|RIC3_ENST00000343202.4_Frame_Shift_Del_p.L109fs|RIC3_ENST00000539720.1_Frame_Shift_Del_p.L60fs|RIC3_ENST00000425599.2_Frame_Shift_Del_p.L109fs|RIC3_ENST00000419822.2_Frame_Shift_Del_p.L109fs			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	109					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CAGTATATATAAAAAAATCCC	0.353																																																	0													64.0	76.0	72.0					11																	8161539		2201	4296	6497	SO:0001589	frameshift_variant	0				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.326delT	11.37:g.8161539delA	ENSP00000308820:p.Leu109fs		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Frame_Shift_Del	DEL	NULL	p.L109fs	ENST00000309737.6	37	c.326	CCDS55742.1	11																																																																																			RIC3	-	NULL	ENSG00000166405		0.353	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIC3	HGNC	protein_coding	OTTHUMT00000385900.1		0.00	53	0	A	NM_024557		8161539	-1	tier1		no_errors	ENST00000309737	ensembl	human	known	74_37	frame_shift_del	31.88	47	22	DEL	1.000	-
RICTOR	253260	genome.wustl.edu	37	5	38949530	38949530	+	Splice_Site	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:38949530C>T	ENST00000296782.5	-	32	4158		c.e32-1		RICTOR_ENST00000357387.3_Intron					RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AAAATCGATCCTTGCAGAAGC	0.383																																																	0													47.0	48.0	47.0					5																	38949530		875	1991	2866	SO:0001630	splice_region_variant	0				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000296782.5:c.4137-1G>A	5.37:g.38949530C>T				Splice_Site	SNP	-	e32-1	ENST00000296782.5	37	c.4137-1		5	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366995	0.61513	.	.	ENSG00000164327	ENST00000296782	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9778	0.80083	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RICTOR	38985287	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.549000	0.53681	2.840000	0.97914	0.655000	0.94253	.	RICTOR	-	-	ENSG00000164327		0.383	RICTOR-002	KNOWN	basic	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366986.1	-	0.00	66	0	C	NM_152756	Intron	38949530	-1	tier1	-	no_errors	ENST00000296782	ensembl	human	known	74_37	splice_site	10.39	138	16	SNP	1.000	T
RICTOR	253260	genome.wustl.edu	37	5	38953112	38953113	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:38953112_38953113insT	ENST00000357387.3	-	29	2901_2902	c.2871_2872insA	c.(2869-2874)aaacagfs	p.Q958fs	RICTOR_ENST00000503698.1_5'Flank|RICTOR_ENST00000296782.5_Frame_Shift_Ins_p.Q958fs	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ACTTCACACTGTTTTGCAAGTT	0.356																																																	0																																										SO:0001589	frameshift_variant	0				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2872dupA	5.37:g.38953116_38953116dupT	ENSP00000349959:p.Gln958fs			Frame_Shift_Ins	INS	superfamily_ARM-type_fold	p.Q957fs	ENST00000357387.3	37	c.2872_2871	CCDS34148.1	5																																																																																			RICTOR	-	superfamily_ARM-type_fold	ENSG00000164327		0.356	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1		0.00	56	0	-	NM_152756		38953113	-1	tier1		no_errors	ENST00000296782	ensembl	human	known	74_37	frame_shift_ins	59.05	43	62	INS	1.000:1.000	T
RICTOR	253260	genome.wustl.edu	37	5	38954826	38954826	+	5'UTR	DEL	T	T	-	rs190666602	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:38954826delT	ENST00000503698.1	-	0	754				RICTOR_ENST00000296782.5_Intron|RICTOR_ENST00000357387.3_Intron					RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TAAGATTTTGTTTTTTTTTTA	0.274																																																	0										610,31,4,3621		43,0,0,524,4,0,23,0,4,1535	48.0	49.0	49.0			-2.5	0.0	5	dbSNP_130	49	132,49,2,8069		1,0,0,130,2,0,45,0,2,3946	no	intron	RICTOR	NM_152756.3		44,0,0,654,6,0,68,0,6,5481	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.2176,15.1195,6.6145			38954826	742,80,6,11690	2203	4300	6503	SO:0001623	5_prime_UTR_variant	0				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000503698.1:c.-26A>-	5.37:g.38954826delT				RNA	DEL	-	NULL	ENST00000503698.1	37	NULL		5																																																																																			RICTOR	-	-	ENSG00000164327		0.274	RICTOR-009	KNOWN	basic	processed_transcript	RICTOR	HGNC	protein_coding	OTTHUMT00000366993.1		0.00	29	0	T	NM_152756		38954826	-1	tier1		no_errors	ENST00000503698	ensembl	human	known	74_37	rna	40.74	32	22	DEL	0.000	-
RIMBP2	23504	genome.wustl.edu	37	12	130892306	130892306	+	Missense_Mutation	SNP	C	C	T	rs370980032		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:130892306C>T	ENST00000261655.4	-	16	3053	c.2890G>A	c.(2890-2892)Gac>Aac	p.D964N		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	964	SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCTCTGGGGTCGTAGTCATAC	0.547																																																	0								C	ASN/ASP	0,4406		0,0,2203	456.0	346.0	384.0		2890	4.9	1.0	12		384	2,8598	2.2+/-6.3	0,2,4298	no	missense	RIMBP2	NM_015347.4	23	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	964/1053	130892306	2,13004	2203	4300	6503	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2890G>A	12.37:g.130892306C>T	ENSP00000261655:p.Asp964Asn		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.D964N	ENST00000261655.4	37	c.2890	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219209	0.79464	0.0	2.33E-4	ENSG00000060709	ENST00000261655;ENST00000536632	T;T	0.49432	0.78;0.78	4.93	4.93	0.64822	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.49321	0.1550	N	0.16233	0.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.35251	-0.9796	10	0.02654	T	1	-40.7606	18.1305	0.89599	0.0:1.0:0.0:0.0	.	964	O15034	RIMB2_HUMAN	N	964;101	ENSP00000261655:D964N;ENSP00000439030:D101N	ENSP00000261655:D964N	D	-	1	0	RIMBP2	129458259	1.000000	0.71417	0.992000	0.48379	0.891000	0.51852	7.741000	0.84997	2.278000	0.76064	0.555000	0.69702	GAC	RIMBP2	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000060709		0.547	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	-	0.00	174	0	C	NM_015347		130892306	-1	tier1	-	no_errors	ENST00000261655	ensembl	human	known	74_37	missense	45.03	94	77	SNP	1.000	T
RIMBP3	85376	genome.wustl.edu	37	22	20456704	20456704	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:20456704G>A	ENST00000426804.1	-	1	5082	c.4598C>T	c.(4597-4599)gCc>gTc	p.A1533V	RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA|SCARNA17_ENST00000516762.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1533										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GTTCCCTTGGGCCGGAGAACG	0.627																																																	0													30.0	35.0	34.0					22																	20456704		774	2001	2775	SO:0001583	missense	0			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.4598C>T	22.37:g.20456704G>A	ENSP00000391564:p.Ala1533Val		Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain	p.A1533V	ENST00000426804.1	37	c.4598	CCDS46665.1	22	.	.	.	.	.	.	.	.	.	.	G	1.474	-0.559155	0.03967	.	.	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.18810	2.19	3.58	-1.66	0.08265	.	1.665800	0.03405	N	0.203965	T	0.13457	0.0326	L	0.33485	1.01	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.21314	-1.0249	10	0.27082	T	0.32	0.1588	0.758	0.01002	0.2235:0.1874:0.3979:0.1912	.	1439	Q9UFD9	RIM3A_HUMAN	V	1439;1533	ENSP00000391564:A1533V	ENSP00000347318:A1439V	A	-	2	0	RIMBP3	18836704	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.224000	0.09164	0.011000	0.14865	0.423000	0.28283	GCC	RIMBP3	-	NULL	ENSG00000196622		0.627	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP3	HGNC	protein_coding	OTTHUMT00000318945.2	-	0.00	68	0	G	NM_015672		20456704	-1	tier1	-	no_errors	ENST00000426804	ensembl	human	known	74_37	missense	59.09	27	39	SNP	0.000	A
RIMS1	22999	genome.wustl.edu	37	6	73111346	73111347	+	IGR	INS	-	-	A	rs55645367		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:73111346_73111347insA	ENST00000521978.1	+	0	5079				RIMS1_ENST00000348717.5_3'UTR|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000264839.7_3'UTR|RIMS1_ENST00000414192.2_3'UTR	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTCCTGATATTAAAAAAATGCT	0.366																																																	0																																										SO:0001628	intergenic_variant	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009		6.37:g.73111353_73111353dupA			A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	RNA	INS	-	NULL	ENST00000521978.1	37	NULL	CCDS47449.1	6																																																																																			RIMS1	-	-	ENSG00000079841		0.366	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1		0.00	24	0	-			73111347	+1	tier1		no_errors	ENST00000431478	ensembl	human	known	74_37	rna	66.67	5	10	INS	0.001:0.000	A
RIN2	54453	genome.wustl.edu	37	20	19956393	19956394	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:19956393_19956394insC	ENST00000255006.6	+	8	2020_2021	c.1871_1872insC	c.(1870-1875)gaccccfs	p.DP624fs	RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	575	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCGGAGCTGGACCCCCCCATCG	0.495																																																	0																																										SO:0001589	frameshift_variant	0			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1878dupC	20.37:g.19956400_19956400dupC	ENSP00000255006:p.Asp624fs		Q00425|Q5TFT8|Q9BQL3|Q9H071	Frame_Shift_Ins	INS	pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.I627fs	ENST00000255006.6	37	c.1871_1872	CCDS56182.1	20																																																																																			RIN2	-	NULL	ENSG00000132669		0.495	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	HGNC	protein_coding	OTTHUMT00000078212.1		0.00	22	0	-			19956394	+1	tier1		no_errors	ENST00000255006	ensembl	human	known	74_37	frame_shift_ins	29.17	17	7	INS	1.000:0.882	C
RIN2	54453	genome.wustl.edu	37	20	19981678	19981678	+	3'UTR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:19981678C>T	ENST00000255006.6	+	0	3082				RIN2_ENST00000440354.2_3'UTR|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2						endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GTCACCTCCTCGGGGACCCCT	0.547																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.*98C>T	20.37:g.19981678C>T			Q00425|Q5TFT8|Q9BQL3|Q9H071	RNA	SNP	-	NULL	ENST00000255006.6	37	NULL	CCDS56182.1	20																																																																																			RIN2	-	-	ENSG00000132669		0.547	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	HGNC	protein_coding	OTTHUMT00000078212.1	-	0.00	11	0	C			19981678	+1	tier1	-	no_errors	ENST00000484638	ensembl	human	known	74_37	rna	40.00	6	4	SNP	0.000	T
RN7SL417P	107080636	genome.wustl.edu	37	15	84948894	84948894	+	RNA	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:84948894C>A	ENST00000408320.1	+	0	0				RN7SL417P_ENST00000459938.2_RNA																							tggtgacctcctgggaacagg	0.532																																																	0																																												0																															15.37:g.84948894C>A				RNA	SNP	-	NULL	ENST00000408320.1	37	NULL		15																																																																																			RN7SL417P	-	-	ENSG00000244056		0.532	AC136704.1-201	NOVEL	basic	miRNA	RN7SL417P	HGNC	miRNA		-	0.00	46	0	C			84948894	+1	tier1	-	no_errors	ENST00000459938	ensembl	human	known	74_37	rna	11.43	31	4	SNP	0.010	A
RNASE2	6036	genome.wustl.edu	37	14	21424213	21424213	+	Missense_Mutation	SNP	C	C	T	rs34659060	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:21424213C>T	ENST00000304625.2	+	2	373	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	95					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TAACAAAACTCGCAAAAATTG	0.413																																																	0													81.0	77.0	78.0					14																	21424213		2203	4300	6503	SO:0001583	missense	0			X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.283C>T	14.37:g.21424213C>T	ENSP00000303276:p.Arg95Cys		Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.R95C	ENST00000304625.2	37	c.283	CCDS9561.1	14	.	.	.	.	.	.	.	.	.	.	c	8.377	0.836695	0.16891	.	.	ENSG00000169385	ENST00000304625	T	0.73897	-0.79	0.803	-0.571	0.11749	Ribonuclease A, domain (4);	2.670570	0.02013	U	0.047181	T	0.72260	0.3438	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	P	0.56865	0.808	T	0.57711	-0.7764	10	0.35671	T	0.21	.	3.5429	0.07818	0.4406:0.5594:0.0:0.0	.	95	P10153	RNAS2_HUMAN	C	95	ENSP00000303276:R95C	ENSP00000303276:R95C	R	+	1	0	RNASE2	20494053	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.695000	0.00197	-0.224000	0.09928	0.305000	0.20034	CGC	RNASE2	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain	ENSG00000169385		0.413	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE2	HGNC	protein_coding	OTTHUMT00000073799.2	-	0.00	61	0	C			21424213	+1	tier1	-	no_errors	ENST00000304625	ensembl	human	known	74_37	missense	37.29	37	22	SNP	0.000	T
RNASEH2B	79621	genome.wustl.edu	37	13	51530587	51530587	+	Frame_Shift_Del	DEL	A	A	-	rs75254367		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:51530587delA	ENST00000336617.3	+	11	1315	c.916delA	c.(916-918)aaafs	p.K308fs	RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Intron	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	308					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		GGTAAAAAATAAAAAAAAAAT	0.299																																																	0									,	196,98,3922		10,2,174,0,96,1826	18.0	20.0	20.0		,	0.7	0.0	13	dbSNP_131	20	322,192,7686		10,1,301,0,191,3597	no	codingComplex,intron	RNASEH2B	NM_024570.3,NM_001142279.2	,	20,3,475,0,287,5423	A1A1,A1A2,A1R,A2A2,A2R,RR		6.2683,6.9734,6.5077	,	,	51530587	518,290,11608	2193	4282	6475	SO:0001589	frameshift_variant	0			AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.916delA	13.37:g.51530587delA	ENSP00000337623:p.Lys308fs		G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Frame_Shift_Del	DEL	pfam_RNase_H2_suB	p.I309fs	ENST00000336617.3	37	c.916	CCDS9425.1	13																																																																																			RNASEH2B	-	NULL	ENSG00000136104		0.299	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEH2B	HGNC	protein_coding	OTTHUMT00000045006.3		0.00	28	0	A	NM_024570		51530587	+1	tier1		no_errors	ENST00000336617	ensembl	human	known	74_37	frame_shift_del	41.56	45	32	DEL	0.153	-
RNASEH2B	79621	genome.wustl.edu	37	13	51530586	51530586	+	Missense_Mutation	SNP	T	T	A	rs200320729|rs75254367|rs112937854	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:51530586T>A	ENST00000336617.3	+	11	1314	c.915T>A	c.(913-915)aaT>aaA	p.N305K	RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Intron	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	305				N -> K (in Ref. 6; AAH05088). {ECO:0000305}.	in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		GGGTAAAAAATAAAAAAAAAA	0.299																																																	0													19.0	21.0	20.0					13																	51530586		2195	4282	6477	SO:0001583	missense	0			AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.915T>A	13.37:g.51530586T>A	ENSP00000337623:p.Asn305Lys		G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Missense_Mutation	SNP	pfam_RNase_H2_suB	p.N305K	ENST00000336617.3	37	c.915	CCDS9425.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.008|0.008	-1.926206|-1.926206	0.00493|0.00493	.|.	.|.	ENSG00000136104|ENSG00000136104	ENST00000539292|ENST00000336617	.|D	.|0.96011	.|-3.88	6.06|6.06	0.743|0.743	0.18347|0.18347	.|.	.|.	.|.	.|.	.|.	.|D	.|0.82628	.|0.5078	N|N	0.02916|0.02916	-0.46|-0.46	0.09310|0.09310	N|N	0.999998|0.999998	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.72613	.|-0.4240	.|9	.|0.06099	.|T	.|0.92	.|1.0087	4.881|4.881	0.13679|0.13679	0.0:0.2522:0.1469:0.6009|0.0:0.2522:0.1469:0.6009	.|.	.|305	.|Q5TBB1	.|RNH2B_HUMAN	.|K	-1|305	.|ENSP00000337623:N305K	.|ENSP00000337623:N305K	.|N	+|+	.|3	.|2	RNASEH2B|RNASEH2B	50428587|50428587	0.914000|0.914000	0.31030|0.31030	0.043000|0.043000	0.18650|0.18650	0.063000|0.063000	0.16089|0.16089	1.108000|1.108000	0.31123|0.31123	0.178000|0.178000	0.19917|0.19917	-0.912000|-0.912000	0.02778|0.02778	.|AAT	RNASEH2B	-	NULL	ENSG00000136104		0.299	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEH2B	HGNC	protein_coding	OTTHUMT00000045006.3		0.00	28	0	T	NM_024570		51530586	+1			no_errors	ENST00000336617	ensembl	human	known	74_37	missense	7.79	71	6	SNP	0.023	A
RNASEL	6041	genome.wustl.edu	37	1	182555824	182555824	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:182555824G>T	ENST00000367559.3	-	2	371	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	RNASEL_ENST00000539397.1_Missense_Mutation_p.L40M|RNASEL_ENST00000444138.1_Missense_Mutation_p.L40M	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	40					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TGCTGGACCAGGTCAACATCT	0.517																																																	0													118.0	112.0	114.0					1																	182555824		2203	4300	6503	SO:0001583	missense	0			L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.118C>A	1.37:g.182555824G>T	ENSP00000356530:p.Leu40Met		Q5W0L2|Q6AI46	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt	p.L40M	ENST00000367559.3	37	c.118	CCDS1347.1	1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.459783	0.26248	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.63744	-0.06;-0.06;-0.06	4.71	-4.65	0.03339	Ankyrin repeat-containing domain (3);	4.197200	0.00496	N	0.000157	T	0.48874	0.1524	L	0.38175	1.15	0.09310	N	1	B;B;B	0.28439	0.212;0.212;0.111	B;B;B	0.34824	0.19;0.19;0.056	T	0.33523	-0.9865	10	0.46703	T	0.11	3.2339	0.3937	0.00415	0.3138:0.1984:0.1278:0.3599	.	40;40;40	Q5W0L2;Q6AI46;Q05823	.;.;RN5A_HUMAN	M	40	ENSP00000356530:L40M;ENSP00000411147:L40M;ENSP00000440844:L40M	ENSP00000356530:L40M	L	-	1	2	RNASEL	180822447	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.612000	0.05616	-0.455000	0.07054	0.467000	0.42956	CTG	RNASEL	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000135828		0.517	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEL	HGNC	protein_coding	OTTHUMT00000085189.1	-	0.00	60	0	G	NM_021133		182555824	-1	tier1	-	no_errors	ENST00000367559	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.000	T
RNF111	54778	genome.wustl.edu	37	15	59368393	59368393	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:59368393C>T	ENST00000557998.1	+	7	2214	c.1927C>T	c.(1927-1929)Cga>Tga	p.R643*	RNF111_ENST00000561186.1_Nonsense_Mutation_p.R643*|RNF111_ENST00000348370.4_Nonsense_Mutation_p.R643*|RNF111_ENST00000559209.1_Nonsense_Mutation_p.R643*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.R643*	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	643	Pro-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CTCATCATGTCGACATTACAT	0.453																																					NSCLC(72;983 1365 10746 34387 47081)												0													99.0	106.0	104.0					15																	59368393		2192	4291	6483	SO:0001587	stop_gained	0			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1927C>T	15.37:g.59368393C>T	ENSP00000452732:p.Arg643*		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R643*	ENST00000557998.1	37	c.1927	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	C	42	9.630376	0.99224	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.55	4.57	0.56435	.	0.057486	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.4458	11.2592	0.49071	0.1415:0.722:0.1365:0.0	.	.	.	.	X	643	.	ENSP00000288199:R643X	R	+	1	2	RNF111	57155685	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.863000	0.48396	2.767000	0.95098	0.557000	0.71058	CGA	RNF111	-	NULL	ENSG00000157450		0.453	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	-	0.00	40	0	C	NM_017610		59368393	+1	tier1	-	no_errors	ENST00000434298	ensembl	human	known	74_37	nonsense	36.11	23	13	SNP	1.000	T
RNF111	54778	genome.wustl.edu	37	15	59383348	59383348	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:59383348delA	ENST00000557998.1	+	12	3021	c.2734delA	c.(2734-2736)aaafs	p.K913fs	RNF111_ENST00000348370.4_Frame_Shift_Del_p.K913fs|RNF111_ENST00000559209.1_Frame_Shift_Del_p.K922fs|RNF111_ENST00000561186.1_Frame_Shift_Del_p.K922fs|RNF111_ENST00000434298.1_Frame_Shift_Del_p.K922fs	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	913					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ACATAAATACAAAAAGGTAAG	0.333																																					NSCLC(72;983 1365 10746 34387 47081)												0													88.0	93.0	91.0					15																	59383348		2192	4291	6483	SO:0001589	frameshift_variant	0			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2734delA	15.37:g.59383348delA	ENSP00000452732:p.Lys913fs		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.K922fs	ENST00000557998.1	37	c.2761	CCDS58366.1	15																																																																																			RNF111	-	NULL	ENSG00000157450		0.333	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1		0.00	15	0	A	NM_017610		59383348	+1	tier1		no_errors	ENST00000434298	ensembl	human	known	74_37	frame_shift_del	38.71	19	12	DEL	1.000	-
RNF114	55905	genome.wustl.edu	37	20	48568670	48568670	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:48568670G>A	ENST00000244061.2	+	6	681	c.679G>A	c.(679-681)Gac>Aac	p.D227N		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	227					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						CTCCATCATCGACCAGTGAGC	0.438																																																	0													228.0	185.0	200.0					20																	48568670		2203	4300	6503	SO:0001583	missense	0			AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226		"""RING-type (C3HC4) zinc fingers"""	13094	protein-coding gene	gene with protein product		612451	"""zinc finger protein 313"""	ZNF313		18364390	Standard	NM_018683		Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.679G>A	20.37:g.48568670G>A	ENSP00000244061:p.Asp227Asn		B2RDQ9|B4DWY5|E1P627|Q6N0B0	Missense_Mutation	SNP	pfam_Di19_Zn_binding,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.D227N	ENST00000244061.2	37	c.679	CCDS33482.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.555477|5.555477	0.96514|0.96514	.|.	.|.	ENSG00000124226|ENSG00000124226	ENST00000449816|ENST00000244061	.|D	.|0.82255	.|-1.59	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.135282	.|0.64402	.|D	.|0.000003	.|D	.|0.88955	.|0.6578	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.64506	.|0.926	.|D	.|0.88742	.|0.3244	.|10	.|0.87932	.|D	.|0	.|.	19.6509|19.6509	0.95805|0.95805	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|227	.|Q9Y508	.|RN114_HUMAN	.|N	-1|227	.|ENSP00000244061:D227N	.|ENSP00000244061:D227N	.|D	+|+	.|1	.|0	RNF114|RNF114	48002077|48002077	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.988000|0.988000	0.76386|0.76386	7.983000|7.983000	0.88140|0.88140	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	.|GAC	RNF114	-	NULL	ENSG00000124226		0.438	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	RNF114	HGNC	protein_coding	OTTHUMT00000079663.1	-	0.00	80	0	G	NM_018683		48568670	+1	tier1	-	no_errors	ENST00000244061	ensembl	human	known	74_37	missense	35.42	31	17	SNP	1.000	A
RNF128	79589	genome.wustl.edu	37	X	106031215	106031215	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:106031215G>T	ENST00000255499.2	+	4	1122	c.872G>T	c.(871-873)cGc>cTc	p.R291L	RNF128_ENST00000324342.3_Missense_Mutation_p.R265L	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	291					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GATTTGGTACGCATCTTAACG	0.338																																																	0													210.0	165.0	180.0					X																	106031215		2202	4300	6502	SO:0001583	missense	0			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.872G>T	X.37:g.106031215G>T	ENSP00000255499:p.Arg291Leu		A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R291L	ENST00000255499.2	37	c.872	CCDS14521.1	X	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320190	0.60634	.	.	ENSG00000133135	ENST00000418562;ENST00000324342;ENST00000255499	T;T;T	0.69175	-0.38;0.98;0.98	5.26	5.26	0.73747	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.181461	0.48286	D	0.000184	T	0.80518	0.4638	M	0.66506	2.035	0.58432	D	0.999996	D;D	0.76494	0.999;0.977	D;P	0.81914	0.995;0.884	T	0.82900	-0.0228	10	0.87932	D	0	.	16.402	0.83643	0.0:0.0:1.0:0.0	.	291;265	Q8TEB7;Q8TEB7-2	RN128_HUMAN;.	L	238;265;291	ENSP00000412610:R238L;ENSP00000316127:R265L;ENSP00000255499:R291L	ENSP00000255499:R291L	R	+	2	0	RNF128	105917871	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	5.553000	0.67287	2.178000	0.69098	0.594000	0.82650	CGC	RNF128	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000133135		0.338	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF128	HGNC	protein_coding	OTTHUMT00000057804.1	-	0.00	63	0	G	NM_024539		106031215	+1	tier1	-	no_errors	ENST00000255499	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	T
RNF145	153830	genome.wustl.edu	37	5	158630642	158630642	+	5'UTR	DEL	T	T	-	rs74770414|rs202186112		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:158630642delT	ENST00000424310.2	-	0	343				RNF145_ENST00000518802.1_Frame_Shift_Del_p.K28fs|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000521606.2_Frame_Shift_Del_p.K15fs|RNF145_ENST00000274542.2_Frame_Shift_Del_p.K26fs|RNF145_ENST00000520638.1_Frame_Shift_Del_p.K12fs	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			tttttttttcttttttttttt	0.363																																																	0													31.0	34.0	33.0					5																	158630642		2202	4300	6502	SO:0001623	5_prime_UTR_variant	0			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-17A>-	5.37:g.158630642delT			B7Z903|B7Z949|E7EVI7|Q8IVP7	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING	p.K25fs	ENST00000424310.2	37	c.74	CCDS56390.1	5																																																																																			RNF145	-	NULL	ENSG00000145860		0.363	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF145	HGNC	protein_coding	OTTHUMT00000374048.1		0.00	32	0	T	NM_144726		158630642	-1	tier1		no_errors	ENST00000518802	ensembl	human	known	74_37	frame_shift_del	23.53	26	8	DEL	0.000	-
RNF168	165918	genome.wustl.edu	37	3	196214437	196214437	+	Nonsense_Mutation	SNP	G	G	A	rs201915239		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:196214437G>A	ENST00000318037.3	-	3	985	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	131	Glu-rich.				cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGGCCCGTCGCTCTGCCGCC	0.398																																																	0								G	stop/ARG	0,4404		0,0,2202	116.0	108.0	111.0		391	2.7	1.0	3		111	1,8597	1.2+/-3.3	0,1,4298	yes	stop-gained	RNF168	NM_152617.3		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		131/572	196214437	1,13001	2202	4299	6501	SO:0001587	stop_gained	0			AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.391C>T	3.37:g.196214437G>A	ENSP00000320898:p.Arg131*		Q8NA67|Q96NS4	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R131*	ENST00000318037.3	37	c.391	CCDS3317.1	3	.	.	.	.	.	.	.	.	.	.	G	42	9.202635	0.99099	0.0	1.16E-4	ENSG00000163961	ENST00000318037	.	.	.	5.41	2.65	0.31530	.	0.000000	0.45867	D	0.000327	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.2389	4.4813	0.11767	0.1398:0.1235:0.6091:0.1275	.	.	.	.	X	131	.	ENSP00000320898:R131X	R	-	1	2	RNF168	197698834	1.000000	0.71417	0.991000	0.47740	0.795000	0.44927	2.102000	0.41796	0.409000	0.25649	0.655000	0.94253	CGA	RNF168	-	NULL	ENSG00000163961		0.398	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF168	HGNC	protein_coding	OTTHUMT00000340778.1	-	0.00	61	0	G	NM_152617		196214437	-1	tier1	rs201915239	no_errors	ENST00000318037	ensembl	human	known	74_37	nonsense	39.13	42	27	SNP	0.974	A
RNF213	57674	genome.wustl.edu	37	17	78310294	78310294	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:78310294G>A	ENST00000582970.1	+	23	4670				RNF213_ENST00000456466.1_Missense_Mutation_p.R1548H|RNF213_ENST00000508628.2_Intron	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213						ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTACACAGCCGTTTTCAATGA	0.373																																																	0																																										SO:0001627	intron_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.4527+116G>A	17.37:g.78310294G>A			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	NULL	p.R1548H	ENST00000582970.1	37	c.4643	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	1.573	-0.533551	0.04082	.	.	ENSG00000173821	ENST00000456466	.	.	.	2.64	-5.29	0.02747	.	.	.	.	.	T	0.20495	0.0493	.	.	.	0.09310	N	0.999993	B	0.06786	0.001	B	0.04013	0.001	T	0.10497	-1.0627	6	.	.	.	2.6901	3.3272	0.07071	0.1529:0.1239:0.4811:0.2421	.	1548	Q9HCF4	ALO17_HUMAN	H	1548	.	.	R	+	2	0	RNF213	75924889	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.030000	0.13688	-2.905000	0.00310	-0.982000	0.02568	CGT	RNF213	-	NULL	ENSG00000173821		0.373	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	-	0.00	64	0	G	NM_020914		78310294	+1	tier1	-	no_errors	ENST00000456466	ensembl	human	known	74_37	missense	44.83	32	26	SNP	0.000	A
RNF43	54894	genome.wustl.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:56435161delC	ENST00000584437.1	-	8	3931	c.1976delG	c.(1975-1977)ggtfs	p.G659fs	RNF43_ENST00000577716.1_Frame_Shift_Del_p.G659fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.G618fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.G618fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.G659fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCGGAGGGACCCCCCCGCCT	0.602																																																	1	Deletion - Frameshift(1)	large_intestine(1)											64.0	77.0	72.0					17																	56435161		2203	4299	6502	SO:0001589	frameshift_variant	0				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1976delG	17.37:g.56435161delC	ENSP00000463069:p.Gly659fs		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING	p.G659fs	ENST00000584437.1	37	c.1976	CCDS11607.1	17																																																																																			RNF43	-	NULL	ENSG00000108375		0.602	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1		0.00	57	0	C	NM_017763		56435161	-1	tier1		no_errors	ENST00000407977	ensembl	human	known	74_37	frame_shift_del	33.33	34	17	DEL	0.900	-
RNF213	57674	genome.wustl.edu	37	17	78337441	78337441	+	Silent	SNP	G	G	A	rs145731088		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:78337441G>A	ENST00000582970.1	+	41	11744	c.11601G>A	c.(11599-11601)acG>acA	p.T3867T	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Silent_p.T1940T|RNF213_ENST00000508628.2_Silent_p.T3916T	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3867					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGGCCTGCACGGAGATGCTGA	0.642																																																	0								G		0,4406		0,0,2203	85.0	59.0	68.0		11748	-7.5	0.0	17	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNF213	NM_020914.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		3916/5257	78337441	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11601G>A	17.37:g.78337441G>A			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.T3867	ENST00000582970.1	37	c.11601	CCDS58606.1	17																																																																																			RNF213	-	superfamily_P-loop_NTPase	ENSG00000173821		0.642	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	-	0.00	37	0	G	NM_020914		78337441	+1	tier1	rs145731088	no_errors	ENST00000582970	ensembl	human	known	74_37	silent	37.14	22	13	SNP	0.003	A
RNMT	8731	genome.wustl.edu	37	18	13740228	13740228	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:13740228G>T	ENST00000383314.2	+	6	982	c.742G>T	c.(742-744)Gat>Tat	p.D248Y	RNMT_ENST00000589866.1_Missense_Mutation_p.D248Y|RNMT_ENST00000592764.1_Missense_Mutation_p.D248Y|RNMT_ENST00000543302.2_Missense_Mutation_p.D248Y|RNMT_ENST00000535051.1_Missense_Mutation_p.D6Y|RNMT_ENST00000262173.3_Missense_Mutation_p.D248Y			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	248	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AAATCGTCGTGATAGTGAATA	0.363																																					GBM(29;474 594 19092 36647 41529)												0													108.0	100.0	103.0					18																	13740228		2203	4300	6503	SO:0001583	missense	0			AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.742G>T	18.37:g.13740228G>T	ENSP00000372804:p.Asp248Tyr		B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase	p.D248Y	ENST00000383314.2	37	c.742	CCDS11867.1	18	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569740	0.28003	.	.	ENSG00000101654	ENST00000383314;ENST00000535051;ENST00000543302;ENST00000544744;ENST00000262173	.	.	.	5.76	4.89	0.63831	.	0.497547	0.23404	N	0.048559	T	0.29914	0.0748	L	0.34521	1.04	0.25291	N	0.989354	B;B	0.18741	0.03;0.012	B;B	0.12156	0.006;0.007	T	0.20009	-1.0288	9	0.52906	T	0.07	-17.1319	6.7435	0.23449	0.0717:0.1194:0.6713:0.1376	.	248;248	O43148-2;O43148	.;MCES_HUMAN	Y	248;6;248;70;248	.	ENSP00000262173:D248Y	D	+	1	0	RNMT	13730228	0.342000	0.24809	1.000000	0.80357	0.860000	0.49131	1.188000	0.32102	1.441000	0.47550	-0.140000	0.14226	GAT	RNMT	-	pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase	ENSG00000101654		0.363	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNMT	HGNC	protein_coding	OTTHUMT00000254636.1	-	0.00	34	0	G	NM_003799		13740228	+1	tier1	-	no_errors	ENST00000262173	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.846	T
RNPC3	55599	genome.wustl.edu	37	1	104076467	104076468	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:104076467_104076468delAA	ENST00000533099.1	+	4	583_584	c.347_348delAA	c.(346-348)gaafs	p.E116fs	RNPC3_ENST00000423855.2_Frame_Shift_Del_p.E116fs|RNPC3_ENST00000524631.1_Frame_Shift_Del_p.E116fs			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	116	Necessary for interaction with PDCD7.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		TCAGGCTCTGAAAAAAAAAAAA	0.317																																																	0																																										SO:0001589	frameshift_variant	0			AB058742, AY099329	CCDS781.1	1p21.1	2013-07-16			ENSG00000185946	ENSG00000185946		"""RNA binding motif (RRM) containing"""	18666	protein-coding gene	gene with protein product	"""U11/U12 snRNP 65K"""					14974681, 15146077	Standard	NM_017619		Approved	KIAA1839, FLJ20008, RBM40, SNRNP65	uc010oun.2	Q96LT9	OTTHUMG00000166613	ENST00000533099.1:c.347_348delAA	1.37:g.104076477_104076478delAA	ENSP00000432886:p.Glu116fs		A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K119fs	ENST00000533099.1	37	c.347_348	CCDS781.1	1																																																																																			RNPC3	-	NULL	ENSG00000185946		0.317	RNPC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNPC3	HGNC	protein_coding	OTTHUMT00000390812.1		0.00	20	0	AA	NM_017619		104076468	+1	tier1		no_errors	ENST00000423855	ensembl	human	known	74_37	frame_shift_del	25.00	15	5	DEL	0.784:0.699	-
ROBO2	6092	genome.wustl.edu	37	3	77623815	77623815	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:77623815C>T	ENST00000461745.1	+	14	3037	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W	ROBO2_ENST00000487694.3_Missense_Mutation_p.R729W|ROBO2_ENST00000332191.8_Missense_Mutation_p.R713W	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	713	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AATTAAAGTACGGCCATATTT	0.393																																																	0													56.0	52.0	53.0					3																	77623815		1843	4100	5943	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2137C>T	3.37:g.77623815C>T	ENSP00000417164:p.Arg713Trp		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R713W	ENST00000461745.1	37	c.2137	CCDS43109.1	3	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176904	0.57692	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.59083	0.29;0.29;0.29	5.67	4.79	0.61399	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42172	D	0.000753	T	0.78136	0.4236	M	0.82823	2.61	0.46586	D	0.999110	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83156	-0.0101	9	0.72032	D	0.01	.	16.194	0.82011	0.134:0.866:0.0:0.0	.	729;713;713	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	W	729;729;733;713;713;434	ENSP00000417335:R729W;ENSP00000417164:R713W;ENSP00000327536:R713W	ENSP00000327536:R713W	R	+	1	2	ROBO2	77706505	1.000000	0.71417	0.247000	0.24249	0.119000	0.20118	4.964000	0.63701	1.363000	0.46019	0.585000	0.79938	CGG	ROBO2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000185008		0.393	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	-	0.00	34	0	C	XM_031246		77623815	+1	tier1	-	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	38.46	24	15	SNP	1.000	T
ROCK1P1	727758	genome.wustl.edu	37	18	121145	121147	+	RNA	DEL	TTG	TTG	-	rs201987631|rs60788647|rs199838600		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTG	TTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:121145_121147delTTG	ENST00000608049.1	+	0	1383_1385					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		AACTGAAGTTTTGTTTTTTTTTT	0.355																																																	0																																												0					18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.121145_121147delTTG				RNA	DEL	-	NULL	ENST00000608049.1	37	NULL		18																																																																																			ROCK1P1	-	-	ENSG00000263006		0.355	ROCK1P1-003	KNOWN	basic	processed_transcript	ROCK1P1	HGNC	pseudogene	OTTHUMT00000472417.1		0.00	17	0	TTG			121147	+1	tier1		no_errors	ENST00000608049	ensembl	human	known	74_37	rna	38.89	11	7	DEL	0.605:0.625:0.630	-
ROCK1P1	727758	genome.wustl.edu	37	18	118357	118357	+	RNA	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:118357delA	ENST00000608049.1	+	0	791					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		CAGGATGAACAAAAAAAATGG	0.363																																																	0																																												0					18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.118357delA				RNA	DEL	-	NULL	ENST00000608049.1	37	NULL		18																																																																																			ROCK1P1	-	-	ENSG00000263006		0.363	ROCK1P1-003	KNOWN	basic	processed_transcript	ROCK1P1	HGNC	pseudogene	OTTHUMT00000472417.1		0.00	47	0	A			118357	+1			no_errors	ENST00000608049	ensembl	human	known	74_37	rna	23.44	49	15	DEL	1.000	0
RP1L1	94137	genome.wustl.edu	37	8	10468813	10468813	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:10468813delC	ENST00000382483.3	-	4	3018	c.2795delG	c.(2794-2796)ggafs	p.G933fs		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	933					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGGGGCCTCCCCCACTCCT	0.667																																																	0													28.0	35.0	33.0					8																	10468813		1983	4139	6122	SO:0001589	frameshift_variant	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2795delG	8.37:g.10468813delC	ENSP00000371923:p.Gly933fs		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Frame_Shift_Del	DEL	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.G932fs	ENST00000382483.3	37	c.2795	CCDS43708.1	8																																																																																			RP1L1	-	NULL	ENSG00000183638		0.667	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1		0.00	62	0	C			10468813	-1	tier1		no_errors	ENST00000382483	ensembl	human	known	74_37	frame_shift_del	24.64	52	17	DEL	0.000	-
RP1	6101	genome.wustl.edu	37	8	55533894	55533894	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:55533894G>A	ENST00000220676.1	+	2	516	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	123					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCCCGTCGGCGCCCGCGGCCC	0.706																																					Colon(91;1014 1389 7634 14542 40420)												0													29.0	35.0	33.0					8																	55533894		2201	4297	6498	SO:0001583	missense	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.368G>A	8.37:g.55533894G>A	ENSP00000220676:p.Arg123His			Missense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.R123H	ENST00000220676.1	37	c.368	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909128	0.72868	.	.	ENSG00000104237	ENST00000220676	D	0.86562	-2.14	4.9	2.71	0.32032	Doublecortin domain (2);	0.180201	0.27482	N	0.019173	D	0.89420	0.6710	M	0.72118	2.19	0.38844	D	0.956135	D	0.89917	1.0	D	0.65874	0.939	D	0.87634	0.2518	10	0.66056	D	0.02	-0.2532	2.2271	0.03987	0.319:0.3255:0.3555:0.0	.	123	P56715	RP1_HUMAN	H	123	ENSP00000220676:R123H	ENSP00000220676:R123H	R	+	2	0	RP1	55696447	1.000000	0.71417	0.867000	0.34043	0.449000	0.32228	2.149000	0.42244	1.020000	0.39573	0.650000	0.86243	CGC	RP1	-	NULL	ENSG00000104237		0.706	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	-	0.00	36	0	G	NM_006269		55533894	+1	tier1	-	no_errors	ENST00000220676	ensembl	human	known	74_37	missense	22.58	24	7	SNP	0.998	A
RPA1	6117	genome.wustl.edu	37	17	1783946	1783946	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:1783946C>T	ENST00000254719.5	+	12	1312	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	401					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)	p.A401V(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ACTATCATTGCGAATCCTGAC	0.502								Nucleotide excision repair (NER)																																									1	Substitution - Missense(1)	endometrium(1)											110.0	106.0	108.0					17																	1783946		2203	4300	6503	SO:0001583	missense	0			M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1202C>T	17.37:g.1783946C>T	ENSP00000254719:p.Ala401Val		A8K0Y9|Q59ES9	Missense_Mutation	SNP	pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1	p.A401V	ENST00000254719.5	37	c.1202	CCDS11014.1	17	.	.	.	.	.	.	.	.	.	.	C	4.398	0.073527	0.08485	.	.	ENSG00000132383	ENST00000254719	T	0.14640	2.49	5.83	3.51	0.40186	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.640625	0.17251	N	0.181178	T	0.02455	0.0075	N	0.00099	-2.14	0.26263	N	0.978542	B	0.02656	0.0	B	0.01281	0.0	T	0.40440	-0.9563	10	0.07813	T	0.8	-0.0733	10.0111	0.41986	0.0:0.1383:0.0:0.8617	.	401	P27694	RFA1_HUMAN	V	401	ENSP00000254719:A401V	ENSP00000254719:A401V	A	+	2	0	RPA1	1730696	0.999000	0.42202	0.813000	0.32504	0.543000	0.35085	2.601000	0.46249	0.463000	0.27118	-0.423000	0.05987	GCG	RPA1	-	superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1	ENSG00000132383		0.502	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA1	HGNC	protein_coding	OTTHUMT00000207118.2	-	0.00	50	0	C	NM_002945		1783946	+1	tier1	-	no_errors	ENST00000254719	ensembl	human	known	74_37	missense	30.26	53	23	SNP	0.990	T
RPGRIP1	57096	genome.wustl.edu	37	14	21788248	21788248	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:21788248delA	ENST00000400017.2	+	11	1379	c.1379delA	c.(1378-1380)caafs	p.Q460fs	RPGRIP1_ENST00000557771.1_Frame_Shift_Del_p.Q433fs|RPGRIP1_ENST00000382933.4_Frame_Shift_Del_p.Q102fs|RPGRIP1_ENST00000206660.6_Frame_Shift_Del_p.Q460fs|RPGRIP1_ENST00000556336.1_Frame_Shift_Del_p.Q433fs	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	460					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAGCTCCTCCAAAATGCAGCC	0.458																																																	0													48.0	47.0	48.0					14																	21788248		1927	4133	6060	SO:0001589	frameshift_variant	0			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1379delA	14.37:g.21788248delA	ENSP00000382895:p.Gln460fs		Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Frame_Shift_Del	DEL	pfam_DUF3250,superfamily_C2_dom	p.N461fs	ENST00000400017.2	37	c.1379	CCDS45080.1	14																																																																																			RPGRIP1	-	NULL	ENSG00000092200		0.458	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1		0.00	28	0	A	NM_020366		21788248	+1	tier1		no_errors	ENST00000206660	ensembl	human	known	74_37	frame_shift_del	48.00	13	12	DEL	0.623	-
RPGRIP1	57096	genome.wustl.edu	37	14	21816412	21816412	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:21816412G>T	ENST00000400017.2	+	23	3699	c.3699G>T	c.(3697-3699)ctG>ctT	p.L1233L	RPGRIP1_ENST00000557771.1_Silent_p.L1195L|RPGRIP1_ENST00000382933.4_Silent_p.L559L|RPGRIP1_ENST00000307974.4_Silent_p.L592L|RPGRIP1_ENST00000206660.6_Silent_p.L1233L|RPGRIP1_ENST00000556336.1_Silent_p.L890L	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1233	Interaction with RPGR. {ECO:0000269|PubMed:24981858}.				eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ATCTTCAACTGTGGCAGATCC	0.348																																																	0													115.0	113.0	114.0					14																	21816412		1873	4114	5987	SO:0001819	synonymous_variant	0			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.3699G>T	14.37:g.21816412G>T			Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Silent	SNP	pfam_DUF3250,superfamily_C2_dom	p.L1233	ENST00000400017.2	37	c.3699	CCDS45080.1	14																																																																																			RPGRIP1	-	NULL	ENSG00000092200		0.348	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	-	0.00	48	0	G	NM_020366		21816412	+1	tier1	-	no_errors	ENST00000206660	ensembl	human	known	74_37	silent	9.33	68	7	SNP	0.877	T
RPH3A	22895	genome.wustl.edu	37	12	113285596	113285596	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:113285596G>T	ENST00000389385.4	+	5	676	c.179G>T	c.(178-180)aGg>aTg	p.R60M	RPH3A_ENST00000420983.2_Missense_Mutation_p.R60M|RPH3A_ENST00000415485.3_Missense_Mutation_p.R60M|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000543106.2_Missense_Mutation_p.R60M|RPH3A_ENST00000551052.1_Missense_Mutation_p.R56M|RPH3A_ENST00000548866.1_Intron	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	60	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ATCATCAACAGGGTGATTGCT	0.572																																																	0													94.0	79.0	84.0					12																	113285596		2203	4300	6503	SO:0001583	missense	0			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.179G>T	12.37:g.113285596G>T	ENSP00000374036:p.Arg60Met		B7Z3C3|Q96AE0	Missense_Mutation	SNP	pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.R60M	ENST00000389385.4	37	c.179	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827209	0.71143	.	.	ENSG00000089169	ENST00000548197;ENST00000547686;ENST00000543106;ENST00000551593;ENST00000551748;ENST00000546703;ENST00000547840;ENST00000547728;ENST00000549769;ENST00000552667;ENST00000389385;ENST00000551198;ENST00000551052;ENST00000415485;ENST00000553114;ENST00000420983	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.07	4.13	0.48395	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Rabphilin-3A effector, zinc-binding (1);Zinc finger, FYVE/PHD-type (1);	0.086699	0.44097	D	0.000492	T	0.73552	0.3601	M	0.62723	1.935	0.38420	D	0.946163	P;P;P	0.49783	0.928;0.928;0.912	B;B;B	0.41666	0.363;0.363;0.248	T	0.75548	-0.3279	9	.	.	.	.	11.8234	0.52252	0.0932:0.0:0.9068:0.0	.	60;60;56	B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;RP3A_HUMAN;.	M	60;60;60;60;60;60;60;60;60;60;60;60;56;60;60;60	ENSP00000446570:R60M;ENSP00000449705:R60M;ENSP00000440384:R60M;ENSP00000446780:R60M;ENSP00000447306:R60M;ENSP00000446556:R60M;ENSP00000450382:R60M;ENSP00000449613:R60M;ENSP00000447505:R60M;ENSP00000449650:R60M;ENSP00000374036:R60M;ENSP00000447083:R60M;ENSP00000448297:R56M;ENSP00000405357:R60M;ENSP00000450216:R60M;ENSP00000408889:R60M	.	R	+	2	0	RPH3A	111769979	1.000000	0.71417	0.982000	0.44146	0.991000	0.79684	3.988000	0.56951	1.153000	0.42468	-0.345000	0.07892	AGG	RPH3A	-	pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	ENSG00000089169		0.572	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1		0.00	38	0	G	NM_014954		113285596	+1			no_errors	ENST00000389385	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.937	T
RPH3A	22895	genome.wustl.edu	37	12	113319586	113319586	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:113319586C>T	ENST00000389385.4	+	15	1758	c.1261C>T	c.(1261-1263)Ccc>Tcc	p.P421S	RPH3A_ENST00000420983.2_Missense_Mutation_p.P421S|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Missense_Mutation_p.P421S|RPH3A_ENST00000447659.2_Missense_Mutation_p.P372S|RPH3A_ENST00000543106.2_Missense_Mutation_p.P421S|RPH3A_ENST00000551052.1_Missense_Mutation_p.P417S|RPH3A_ENST00000548866.1_Missense_Mutation_p.P372S	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	421	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGGCCTGAAGCCCATGGATTC	0.602																																																	0													108.0	100.0	103.0					12																	113319586		2203	4300	6503	SO:0001583	missense	0			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1261C>T	12.37:g.113319586C>T	ENSP00000374036:p.Pro421Ser		B7Z3C3|Q96AE0	Missense_Mutation	SNP	pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.P421S	ENST00000389385.4	37	c.1261	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880423	0.91740	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913;ENST00000552755	T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38	5.34	5.34	0.76211	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000009	T	0.36386	0.0965	L	0.50919	1.6	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.73380	0.967;0.98;0.98;0.975	T	0.01375	-1.1371	10	0.32370	T	0.25	.	17.8422	0.88718	0.0:1.0:0.0:0.0	.	372;421;421;417	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	S	421;421;372;417;421;372;421;73;73	ENSP00000440384:P421S;ENSP00000374036:P421S;ENSP00000413254:P372S;ENSP00000448297:P417S;ENSP00000405357:P421S;ENSP00000450347:P372S;ENSP00000408889:P421S	ENSP00000374036:P421S	P	+	1	0	RPH3A	111803969	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.463000	0.80869	2.507000	0.84556	0.561000	0.74099	CCC	RPH3A	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000089169		0.602	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	-	0.00	19	0	C	NM_014954		113319586	+1	tier1	-	no_errors	ENST00000389385	ensembl	human	known	74_37	missense	44.44	10	8	SNP	1.000	T
RPH3AL	9501	genome.wustl.edu	37	17	169327	169327	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:169327G>T	ENST00000331302.7	-	5	542	c.235C>A	c.(235-237)Cgg>Agg	p.R79R	RP11-1260E13.1_ENST00000572998.1_RNA|RP11-1260E13.1_ENST00000570501.1_RNA|RPH3AL_ENST00000576001.1_5'Flank|RPH3AL_ENST00000536489.2_Silent_p.R79R|RPH3AL_ENST00000323434.8_Silent_p.R79R	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)	79	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		GTCTCCAGCCGCTCCACCAGC	0.637																																																	0													79.0	64.0	69.0					17																	169327		2199	4297	6496	SO:0001819	synonymous_variant	0				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.235C>A	17.37:g.169327G>T			D3DTG7|Q9BSB3	Silent	SNP	pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.R79	ENST00000331302.7	37	c.235	CCDS10994.1	17																																																																																			RPH3AL	-	pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	ENSG00000181031		0.637	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPH3AL	HGNC	protein_coding	OTTHUMT00000206597.2		0.00	66	0	G	NM_006987		169327	-1			no_errors	ENST00000331302	ensembl	human	known	74_37	silent	6.38	44	3	SNP	1.000	T
RPIA	22934	genome.wustl.edu	37	2	89034075	89034075	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:89034075C>A	ENST00000283646.4	+	5	524	c.469C>A	c.(469-471)Ctt>Att	p.L157I		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	157					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|ribose phosphate metabolic process (GO:0019693)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	monosaccharide binding (GO:0048029)|ribose-5-phosphate isomerase activity (GO:0004751)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				ACAGATCGACCTTGCCATCGA	0.502																																																	0													141.0	133.0	136.0					2																	89034075		1958	4146	6104	SO:0001583	missense	0			L35035	CCDS2004.2	2p11.2	2008-07-31	2008-07-31		ENSG00000153574	ENSG00000153574	5.3.1.6		10297	protein-coding gene	gene with protein product	"""ribose 5-phosphate epimerase"""	180430				7758956	Standard	NM_144563		Approved		uc002ste.3	P49247	OTTHUMG00000130333	ENST00000283646.4:c.469C>A	2.37:g.89034075C>A	ENSP00000283646:p.Leu157Ile		Q541P9|Q96BJ6	Missense_Mutation	SNP	pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA	p.L157I	ENST00000283646.4	37	c.469	CCDS2004.2	2	.	.	.	.	.	.	.	.	.	.	C	8.466	0.856541	0.17106	.	.	ENSG00000153574	ENST00000283646;ENST00000543560	T	0.77358	-1.09	5.76	3.9	0.45041	.	0.176432	0.48286	D	0.000198	T	0.63581	0.2523	N	0.25094	0.71	0.36276	D	0.855477	B	0.25105	0.118	B	0.29353	0.101	T	0.59563	-0.7431	10	0.16420	T	0.52	-2.3838	11.2488	0.49013	0.1199:0.4746:0.4055:0.0	.	157	P49247	RPIA_HUMAN	I	157;23	ENSP00000283646:L157I	ENSP00000283646:L157I	L	+	1	0	RPIA	88815190	1.000000	0.71417	0.986000	0.45419	0.613000	0.37349	3.797000	0.55514	0.829000	0.34733	0.655000	0.94253	CTT	RPIA	-	pfam_Ribose5P_isomerase_typA,tigrfam_Ribose5P_isomerase_typA	ENSG00000153574		0.502	RPIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPIA	HGNC	protein_coding	OTTHUMT00000252683.2	-	0.00	99	0	C			89034075	+1	tier1	-	no_errors	ENST00000283646	ensembl	human	known	74_37	missense	37.93	72	44	SNP	1.000	A
RPL10A	4736	genome.wustl.edu	37	6	35438036	35438036	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:35438036G>A	ENST00000322203.6	+	5	418	c.391G>A	c.(391-393)Gca>Aca	p.A131T	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	131					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						TTTAAATAAGGCAGGAAAGTT	0.478																																																	0													58.0	53.0	54.0					6																	35438036		2203	4300	6503	SO:0001583	missense	0			U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.391G>A	6.37:g.35438036G>A	ENSP00000363018:p.Ala131Thr		B2R801|P52859|P53025|Q5TZT6|Q8J013	Missense_Mutation	SNP	pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like,pirsf_Ribosomal_L1	p.A131T	ENST00000322203.6	37	c.391	CCDS4806.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.489709	0.96323	.	.	ENSG00000198755	ENST00000322203	T	0.43688	0.94	4.73	4.73	0.59995	Ribosomal protein L1, 3-layer alpha/beta-sandwich (1);Ribosomal protein L1, conserved site (1);Ribosomal protein L1, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	H	0.94222	3.51	0.80722	D	1	B	0.34015	0.435	P	0.58130	0.833	T	0.75334	-0.3354	10	0.72032	D	0.01	.	16.3854	0.83503	0.0:0.0:1.0:0.0	.	131	P62906	RL10A_HUMAN	T	131	ENSP00000363018:A131T	ENSP00000363018:A131T	A	+	1	0	RPL10A	35546014	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.595000	0.98260	2.194000	0.70268	0.556000	0.70494	GCA	RPL10A	-	pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like,pirsf_Ribosomal_L1	ENSG00000198755		0.478	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL10A	HGNC	protein_coding	OTTHUMT00000040283.1	-	0.00	70	0	G	NM_007104		35438036	+1	tier1	-	no_errors	ENST00000322203	ensembl	human	known	74_37	missense	24.19	47	15	SNP	1.000	A
RPL12	6136	genome.wustl.edu	37	9	130213127	130213127	+	Intron	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:130213127A>T	ENST00000361436.5	-	2	125				SNORA65_ENST00000364432.1_RNA|LRSAM1_ENST00000373324.4_5'Flank|RPL12_ENST00000536368.1_Intron|LRSAM1_ENST00000300417.6_5'Flank|RPL12_ENST00000497322.1_5'UTR|LRSAM1_ENST00000373322.1_5'Flank|LRSAM1_ENST00000323301.4_5'Flank	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	4						GGGAGCCCCGAGCCACAGCCC	0.637																																																	0													4.0	5.0	4.0					9																	130213127		2101	4162	6263	SO:0001627	intron_variant	0				CCDS6872.1	9q34	2011-04-06			ENSG00000197958	ENSG00000197958		"""L ribosomal proteins"""	10302	protein-coding gene	gene with protein product		180475				8441690	Standard	NM_000976		Approved	L12	uc004bqy.2	P30050	OTTHUMG00000020704	ENST00000361436.5:c.38-44T>A	9.37:g.130213127A>T			Q5VVV2|Q6PB27	RNA	SNP	-	NULL	ENST00000361436.5	37	NULL	CCDS6872.1	9																																																																																			RPL12	-	-	ENSG00000197958		0.637	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL12	HGNC	protein_coding	OTTHUMT00000054189.1	-	0.00	29	0	A			130213127	-1	tier1	-	no_errors	ENST00000497322	ensembl	human	known	74_37	rna	50.00	13	13	SNP	0.000	T
RPL22	6146	genome.wustl.edu	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:6257785delT	ENST00000234875.4	-	2	82	c.44delA	c.(43-45)aagfs	p.K16fs	RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	16					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		AACTTGCTTCTTTTTTTTGCC	0.398			T	RUNX1	"""AML, CML"""																																			Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	1	Deletion - Frameshift(1)	large_intestine(1)											62.0	55.0	57.0					1																	6257785		2203	4300	6503	SO:0001589	frameshift_variant	0			BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.44delA	1.37:g.6257785delT	ENSP00000346088:p.Lys16fs		B2R495|Q6IBD1	Frame_Shift_Del	DEL	pfam_Ribosomal_L22e	p.K15fs	ENST00000234875.4	37	c.44	CCDS58.1	1																																																																																			RPL22	-	pfam_Ribosomal_L22e	ENSG00000116251		0.398	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL22	HGNC	protein_coding	OTTHUMT00000002830.1		0.00	35	0	T	NM_000983		6257785	-1	tier1		no_errors	ENST00000234875	ensembl	human	known	74_37	frame_shift_del	33.33	26	13	DEL	1.000	-
RPL22P19	644022	genome.wustl.edu	37	12	125420367	125420367	+	RNA	DEL	T	T	-	rs111807895	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:125420367delT	ENST00000480427.1	-	0	74									ribosomal protein L22 pseudogene 19																		ACCTGCTTCCTTTTTTTTAGC	0.453														986	0.196885	0.4107	0.2896	5008	,	,		22076	0.0258		0.165	False		,,,				2504	0.0511																0																																												0					12q24.31	2009-03-11				ENSG00000241129			36567	pseudogene	pseudogene						19123937	Standard	NG_010946		Approved						12.37:g.125420367delT				RNA	DEL	-	NULL	ENST00000480427.1	37	NULL		12																																																																																			RPL22P19	-	-	ENSG00000241129		0.453	RPL22P19-002	KNOWN	basic	processed_transcript	RPL22P19	HGNC	pseudogene	OTTHUMT00000351190.1		0.00	18	0	T	NG_010946		125420367	-1	tier1		no_errors	ENST00000480427	ensembl	human	known	74_37	rna	45.00	11	9	DEL	1.000	-
RPL26L1	51121	genome.wustl.edu	37	5	172387036	172387036	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:172387036G>A	ENST00000521476.1	+	2	284	c.160G>A	c.(160-162)Gag>Aag	p.E54K	RPL26L1_ENST00000519239.1_Missense_Mutation_p.E54K|CTC-308K20.1_ENST00000518894.1_RNA|CTC-308K20.1_ENST00000518818.1_RNA|CTC-308K20.1_ENST00000520067.1_RNA|RPL26L1_ENST00000265100.2_Missense_Mutation_p.E54K|RPL26L1_ENST00000519974.1_Missense_Mutation_p.E54K|CTC-308K20.2_ENST00000519755.1_lincRNA			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	54					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGGACGACGAGGTCCAGGT	0.612																																																	0													100.0	88.0	92.0					5																	172387036		2203	4300	6503	SO:0001583	missense	0			AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"""L ribosomal proteins"""	17050	protein-coding gene	gene with protein product			"""ribosomal protein L26 pseudogene 1"""	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.160G>A	5.37:g.172387036G>A	ENSP00000428223:p.Glu54Lys		B3KY82|D3DQM0	Missense_Mutation	SNP	pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc	p.E54K	ENST00000521476.1	37	c.160	CCDS4382.1	5	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465988	0.63625	.	.	ENSG00000037241	ENST00000519974;ENST00000521476;ENST00000265100;ENST00000519239;ENST00000519156	.	.	.	4.81	3.93	0.45458	KOW (2);Translation protein SH3-like (1);Ribosomal protein L24/L26, conserved site (1);Ribosomal protein L24, SH3-like (1);	0.000000	0.85682	D	0.000000	T	0.64011	0.2560	L	0.59436	1.845	0.58432	D	0.999999	P	0.34977	0.478	B	0.42771	0.397	T	0.65545	-0.6142	9	0.49607	T	0.09	.	12.717	0.57121	0.079:0.0:0.921:0.0	.	54	Q9UNX3	RL26L_HUMAN	K	54	.	ENSP00000265100:E54K	E	+	1	0	RPL26L1	172319642	1.000000	0.71417	0.993000	0.49108	0.047000	0.14425	7.454000	0.80714	1.248000	0.43934	0.643000	0.83706	GAG	RPL26L1	-	pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc	ENSG00000037241		0.612	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL26L1	HGNC	protein_coding	OTTHUMT00000372559.1	-	0.00	61	0	G	NM_016093		172387036	+1	tier1	-	no_errors	ENST00000265100	ensembl	human	known	74_37	missense	43.64	31	24	SNP	1.000	A
RPL28	6158	genome.wustl.edu	37	19	55899415	55899415	+	Splice_Site	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:55899415T>C	ENST00000344063.2	+	4	952	c.323T>C	c.(322-324)aTg>aCg	p.M108T	RPL28_ENST00000560583.1_Missense_Mutation_p.M108T|RPL28_ENST00000458349.2_Splice_Site_p.M108T|RPL28_ENST00000558131.1_3'UTR|RPL28_ENST00000559463.1_Splice_Site_p.M108T|RPL28_ENST00000560055.1_Splice_Site_p.M108T|RPL28_ENST00000558815.1_Splice_Site_p.M108T			P46779	RL28_HUMAN	ribosomal protein L28	108					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GACCTGCGCATGGTGAGCTGG	0.592																																																	0													83.0	73.0	76.0					19																	55899415		2203	4300	6503	SO:0001630	splice_region_variant	0			U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.324+1T>C	19.37:g.55899415T>C			B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	NULL	p.M108T	ENST00000344063.2	37	c.323	CCDS12924.1	19	.	.	.	.	.	.	.	.	.	.	T	10.74	1.435446	0.25813	.	.	ENSG00000108107	ENST00000344063;ENST00000426763;ENST00000458349	T;T	0.40225	1.04;1.04	3.44	3.44	0.39384	.	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	M	0.76574	2.34	0.49483	D	0.999795	D;D;D	0.67145	0.992;0.996;0.996	D;D;P	0.65443	0.935;0.928;0.903	T	0.62464	-0.6849	10	0.56958	D	0.05	.	10.5017	0.44810	0.0:0.0:0.0:1.0	.	108;108;108	B4DEP9;E9PB24;P46779	.;.;RL28_HUMAN	T	108	ENSP00000342787:M108T;ENSP00000401450:M108T	ENSP00000342787:M108T	M	+	2	0	RPL28	60591227	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	7.261000	0.78400	1.520000	0.48965	0.379000	0.24179	ATG	RPL28	-	NULL	ENSG00000108107		0.592	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL28	HGNC	protein_coding	OTTHUMT00000416277.2	-	0.00	48	0	T	NM_000991	Missense_Mutation	55899415	+1	tier1	-	no_errors	ENST00000458349	ensembl	human	known	74_37	missense	53.85	18	21	SNP	1.000	C
RPL32P3	132241	genome.wustl.edu	37	3	129112515	129112515	+	RNA	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:129112515G>T	ENST00000514355.1	-	0	636									ribosomal protein L32 pseudogene 3											lung(1)	1						GAATTCTCACGCCTTGGCCTC	0.552																																																	0																																												0			AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129112515G>T				RNA	SNP	-	NULL	ENST00000514355.1	37	NULL		3																																																																																			RPL32P3	-	-	ENSG00000251474		0.552	RPL32P3-003	KNOWN	basic	processed_transcript	RPL32P3	HGNC	pseudogene	OTTHUMT00000355880.1	-	0.00	37	0	G			129112515	-1	tier1	-	no_errors	ENST00000499631	ensembl	human	known	74_37	rna	12.50	35	5	SNP	0.000	T
RPP40	10799	genome.wustl.edu	37	6	4996642	4996642	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:4996642G>A	ENST00000380051.2	-	6	616	c.572C>T	c.(571-573)tCg>tTg	p.S191L	RPP40_ENST00000319533.5_Missense_Mutation_p.S168L|RPP40_ENST00000464646.1_Missense_Mutation_p.S131L	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	191					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CATCATTGTCGATTCTTCTGA	0.448																																																	0													101.0	98.0	99.0					6																	4996642		2203	4300	6503	SO:0001583	missense	0			U94317	CCDS34333.1, CCDS69040.1, CCDS75391.1	6p25.1	2012-05-21	2007-06-26	2004-03-19	ENSG00000124787	ENSG00000124787			20992	protein-coding gene	gene with protein product		606117	"""ribonuclease P1"", ""ribonuclease P 40kDa subunit"""	RNASEP1		9630247	Standard	NM_006638		Approved	bA428J1.3	uc003mwl.3	O75818	OTTHUMG00000014168	ENST00000380051.2:c.572C>T	6.37:g.4996642G>A	ENSP00000369391:p.Ser191Leu		Q5VX97|Q8WVK8	Missense_Mutation	SNP	pfam_RNase_P_Rpp40	p.S191L	ENST00000380051.2	37	c.572	CCDS34333.1	6	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407280	0.25378	.	.	ENSG00000124787	ENST00000380051;ENST00000319533;ENST00000464646	T;T;T	0.44083	0.93;0.93;0.93	5.23	5.23	0.72850	.	0.387690	0.24492	N	0.038045	T	0.28466	0.0704	M	0.72118	2.19	0.34829	D	0.739456	B;B	0.26041	0.14;0.103	B;B	0.17098	0.017;0.01	T	0.20075	-1.0286	10	0.20519	T	0.43	0.1427	17.7737	0.88501	0.0:0.0:1.0:0.0	.	168;191	O75818-2;O75818	.;RPP40_HUMAN	L	191;168;131	ENSP00000369391:S191L;ENSP00000317998:S168L;ENSP00000419431:S131L	ENSP00000317998:S168L	S	-	2	0	RPP40	4941641	0.995000	0.38212	0.032000	0.17829	0.008000	0.06430	2.528000	0.45624	2.432000	0.82394	0.650000	0.86243	TCG	RPP40	-	pfam_RNase_P_Rpp40	ENSG00000124787		0.448	RPP40-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPP40	HGNC	protein_coding	OTTHUMT00000039733.2	-	0.00	45	0	G	NM_006638		4996642	-1	tier1	-	no_errors	ENST00000380051	ensembl	human	known	74_37	missense	28.57	25	10	SNP	0.662	A
RPS24	6229	genome.wustl.edu	37	10	79814587	79814587	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:79814587C>A	ENST00000440692.1	+	5	831	c.689C>A	c.(688-690)gCt>gAt	p.A230D	RPS24_ENST00000476545.1_3'UTR	NM_001142285.1	NP_001135757.1	P62847	RS24_HUMAN	ribosomal protein S24	0					cellular protein metabolic process (GO:0044267)|erythrocyte homeostasis (GO:0034101)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|translation initiation factor binding (GO:0031369)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			cctgctcctgctggttctccc	0.572																																																	0													111.0	112.0	112.0					10																	79814587		692	1591	2283	SO:0001583	missense	0			AB007159	CCDS7355.1, CCDS7356.1, CCDS44443.1	10q22	2011-04-06			ENSG00000138326	ENSG00000138326		"""S ribosomal proteins"""	10411	protein-coding gene	gene with protein product		602412				9027498, 9582194	Standard	NM_001142283		Approved	S24	uc001jzs.3	P62847	OTTHUMG00000018549	ENST00000440692.1:c.689C>A	10.37:g.79814587C>A	ENSP00000414321:p.Ala230Asp		E7EPK6|P16632|Q5T0P7|Q5T0P8|Q7Z3D1	Missense_Mutation	SNP	pfam_Ribosomal_S24e,superfamily_Ribosomal_L23/L15e_core_dom	p.A230D	ENST00000440692.1	37	c.689	CCDS44443.1	10	.	.	.	.	.	.	.	.	.	.	C	9.748	1.166644	0.21621	.	.	ENSG00000138326	ENST00000440692	.	.	.	1.82	0.85	0.18980	.	.	.	.	.	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.28459	-1.0043	7	.	.	.	.	5.3172	0.15862	0.3367:0.6633:0.0:0.0	.	230	E7EPK6	.	D	230	.	.	A	+	2	0	RPS24	79484593	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.956000	0.03865	0.310000	0.22990	0.462000	0.41574	GCT	RPS24	-	NULL	ENSG00000138326		0.572	RPS24-202	KNOWN	basic|CCDS	protein_coding	RPS24	HGNC	protein_coding		-	0.00	96	0	C	NM_001026		79814587	+1	tier1	-	no_errors	ENST00000440692	ensembl	human	known	74_37	missense	27.40	53	20	SNP	0.001	A
RPS27L	51065	genome.wustl.edu	37	15	63447758	63447759	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:63447758_63447759insAT	ENST00000439025.1	-	3	380_381	c.287_288insAT	c.(286-288)cttfs	p.L96fs	RPS27L_ENST00000330964.5_Intron|RPS27L_ENST00000462430.1_Intron|RPS27L_ENST00000411926.1_Intron|RPS27L_ENST00000455271.1_Intron|RPS27L_ENST00000559763.1_Intron					ribosomal protein S27-like											large_intestine(1)	1						CTTTTCAGTGAAGATAGAGACA	0.347																																																	0																																										SO:0001589	frameshift_variant	0			BC003667	CCDS42048.1	15q21.3	2008-07-18			ENSG00000185088	ENSG00000185088		"""S ribosomal proteins"""	18476	protein-coding gene	gene with protein product		612055				11042152	Standard	NM_015920		Approved		uc002aly.3	Q71UM5	OTTHUMG00000155301	ENST00000439025.1:c.287_288insAT	15.37:g.63447758_63447759insAT	ENSP00000402423:p.Leu96fs			Frame_Shift_Ins	INS	pfam_Ribosomal_S27e,superfamily_Ribosomal_zn-bd	p.H97fs	ENST00000439025.1	37	c.288_287		15																																																																																			RPS27L	-	NULL	ENSG00000185088		0.347	RPS27L-005	PUTATIVE	basic	protein_coding	RPS27L	HGNC	protein_coding	OTTHUMT00000339351.1		0.00	73	0	-	NM_015920		63447759	-1	tier1		no_errors	ENST00000439025	ensembl	human	putative	74_37	frame_shift_ins	38.67	46	29	INS	0.012:0.010	AT
RPS27L	51065	genome.wustl.edu	37	15	63447760	63447760	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:63447760G>T	ENST00000439025.1	-	3	379	c.286C>A	c.(286-288)Ctt>Att	p.L96I	RPS27L_ENST00000330964.5_Intron|RPS27L_ENST00000462430.1_Intron|RPS27L_ENST00000411926.1_Intron|RPS27L_ENST00000455271.1_Intron|RPS27L_ENST00000559763.1_Intron					ribosomal protein S27-like											large_intestine(1)	1						TTTCAGTGAAGATAGAGACAT	0.353																																																	0																																										SO:0001583	missense	0			BC003667	CCDS42048.1	15q21.3	2008-07-18			ENSG00000185088	ENSG00000185088		"""S ribosomal proteins"""	18476	protein-coding gene	gene with protein product		612055				11042152	Standard	NM_015920		Approved		uc002aly.3	Q71UM5	OTTHUMG00000155301	ENST00000439025.1:c.286C>A	15.37:g.63447760G>T	ENSP00000402423:p.Leu96Ile			Missense_Mutation	SNP	pfam_Ribosomal_S27e,superfamily_Ribosomal_zn-bd	p.L96I	ENST00000439025.1	37	c.286		15	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755024	0.31046	.	.	ENSG00000185088	ENST00000439025	.	.	.	3.27	1.2	0.21068	.	0.968678	0.08304	U	0.966507	T	0.30696	0.0773	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.42799	-0.9430	6	0.87932	D	0	.	2.2546	0.04052	0.2554:0.0:0.4837:0.2608	.	.	.	.	I	96	.	ENSP00000402423:L96I	L	-	1	0	RPS27L	61234813	0.008000	0.16893	0.030000	0.17652	0.029000	0.11900	0.175000	0.16762	1.673000	0.50895	0.650000	0.86243	CTT	RPS27L	-	NULL	ENSG00000185088		0.353	RPS27L-005	PUTATIVE	basic	protein_coding	RPS27L	HGNC	protein_coding	OTTHUMT00000339351.1	-	0.00	74	0	G	NM_015920		63447760	-1	tier1	-	no_errors	ENST00000439025	ensembl	human	putative	74_37	missense	42.67	43	32	SNP	0.001	T
RPS6KC1	26750	genome.wustl.edu	37	1	213405564	213405564	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:213405564G>T	ENST00000366960.3	+	10	1341	c.1191G>T	c.(1189-1191)gaG>gaT	p.E397D	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.E100D|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.E185D|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.E385D	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	397	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TCATCTCTGAGGAGTCAGTAT	0.458																																																	0													321.0	266.0	284.0					1																	213405564		2203	4300	6503	SO:0001583	missense	0			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1191G>T	1.37:g.213405564G>T	ENSP00000355927:p.Glu397Asp		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_dom	p.E397D	ENST00000366960.3	37	c.1191	CCDS1513.1	1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012303	0.54468	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.61	4.67	0.58626	.	0.052266	0.85682	D	0.000000	T	0.44623	0.1302	M	0.65320	2	0.54753	D	0.999986	D;P;P	0.89917	1.0;0.874;0.874	D;P;P	0.87578	0.998;0.471;0.471	T	0.29305	-1.0016	10	0.38643	T	0.18	-14.0031	10.0548	0.42239	0.0716:0.1387:0.7897:0.0	.	185;397;385	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	D	185;397;385;100	ENSP00000442306:E185D;ENSP00000355927:E397D;ENSP00000355926:E385D;ENSP00000439282:E100D	ENSP00000355926:E385D	E	+	3	2	RPS6KC1	211472187	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.223000	0.51231	1.448000	0.47680	0.460000	0.39030	GAG	RPS6KC1	-	superfamily_Kinase-like_dom	ENSG00000136643		0.458	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	RPS6KC1	HGNC	protein_coding	OTTHUMT00000089690.3	-	0.00	184	0	G	NM_012424		213405564	+1	tier1	-	no_errors	ENST00000366960	ensembl	human	known	74_37	missense	27.31	173	65	SNP	1.000	T
RPUSD4	84881	genome.wustl.edu	37	11	126073407	126073407	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:126073407C>T	ENST00000298317.4	-	7	1093	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	RPUSD4_ENST00000533628.1_Missense_Mutation_p.R316H|RPUSD4_ENST00000534393.1_5'Flank	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	347					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CACAAAGAAGCGAGGAAGTTT	0.557																																																	0													108.0	104.0	105.0					11																	126073407		2201	4299	6500	SO:0001583	missense	0			BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"""RNA pseudouridylate synthase domain containing"""	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.1040G>A	11.37:g.126073407C>T	ENSP00000298317:p.Arg347His		E9PML2|Q96K56	Missense_Mutation	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom	p.R347H	ENST00000298317.4	37	c.1040	CCDS8469.1	11	.	.	.	.	.	.	.	.	.	.	C	3.931	-0.016070	0.07681	.	.	ENSG00000165526	ENST00000298317;ENST00000533628	T;T	0.22539	1.95;1.95	5.35	-6.18	0.02085	Pseudouridine synthase, catalytic domain (1);	0.380216	0.29924	N	0.010843	T	0.07773	0.0195	N	0.17723	0.515	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.28299	-1.0048	10	0.16420	T	0.52	-28.3816	5.2554	0.15544	0.0875:0.3137:0.0869:0.5118	.	316;347	E9PML2;Q96CM3	.;RUSD4_HUMAN	H	347;316	ENSP00000298317:R347H;ENSP00000433065:R316H	ENSP00000298317:R347H	R	-	2	0	RPUSD4	125578617	0.000000	0.05858	0.750000	0.31169	0.470000	0.32858	-2.735000	0.00802	-0.787000	0.04510	-0.670000	0.03821	CGC	RPUSD4	-	superfamily_PsdUridine_synth_cat_dom	ENSG00000165526		0.557	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPUSD4	HGNC	protein_coding	OTTHUMT00000386336.1	-	0.00	84	0	C	NM_032795		126073407	-1	tier1	-	no_errors	ENST00000298317	ensembl	human	known	74_37	missense	42.86	52	39	SNP	0.019	T
RRN3P1	730092	genome.wustl.edu	37	16	21817658	21817658	+	RNA	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:21817658delA	ENST00000546471.1	-	0	1400							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		ATTGAAAAAGAAAAAAACAGA	0.249																																																	0																																												0					16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817658delA			A8K6T4|B3KWX9|O75704	RNA	DEL	-	NULL	ENST00000546471.1	37	NULL		16																																																																																			RRN3P1	-	-	ENSG00000248124		0.249	RRN3P1-002	KNOWN	basic	processed_transcript	RRN3P1	HGNC	pseudogene	OTTHUMT00000409035.1		0.00	23	0	A	NR_003370		21817658	-1	tier1		no_errors	ENST00000546471	ensembl	human	known	74_37	rna	18.92	30	7	DEL	0.000	-
RSAD1	55316	genome.wustl.edu	37	17	48559705	48559705	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:48559705G>T	ENST00000258955.2	+	4	813	c.728G>T	c.(727-729)gGt>gTt	p.G243V		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	243					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GTGCAGCGGGGTGCCCTTCCA	0.662											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													56.0	60.0	58.0					17																	48559705		2203	4300	6503	SO:0001583	missense	0			AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.728G>T	17.37:g.48559705G>T	ENSP00000258955:p.Gly243Val	955	B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Missense_Mutation	SNP	pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel	p.G243V	ENST00000258955.2	37	c.728	CCDS11569.1	17	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384527	0.61845	.	.	ENSG00000136444	ENST00000258955	T	0.30182	1.54	5.37	5.37	0.77165	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);	0.000000	0.85682	D	0.000000	T	0.68851	0.3046	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.79610	-0.1732	10	0.87932	D	0	-14.1854	18.7184	0.91685	0.0:0.0:1.0:0.0	.	243	Q9HA92	RSAD1_HUMAN	V	243	ENSP00000258955:G243V	ENSP00000258955:G243V	G	+	2	0	RSAD1	45914704	1.000000	0.71417	0.098000	0.21074	0.022000	0.10575	6.556000	0.73932	2.505000	0.84491	0.655000	0.94253	GGT	RSAD1	-	smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel	ENSG00000136444		0.662	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD1	HGNC	protein_coding	OTTHUMT00000367413.1	-	0.00	66	0	G	NM_018346		48559705	+1	tier1	-	no_errors	ENST00000258955	ensembl	human	known	74_37	missense	7.27	50	4	SNP	0.998	T
RSPH4A	345895	genome.wustl.edu	37	6	116951691	116951691	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:116951691G>T	ENST00000229554.5	+	5	2029	c.1892G>T	c.(1891-1893)gGa>gTa	p.G631V	RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.E586*|RSPH4A_ENST00000368580.4_Missense_Mutation_p.G384V	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	631					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTTTGGCCTGGAGCATATGCC	0.408									Kartagener syndrome																																								0													140.0	116.0	124.0					6																	116951691		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.1892G>T	6.37:g.116951691G>T	ENSP00000229554:p.Gly631Val		B4DSI1|Q3KP24|Q5TD95	Nonsense_Mutation	SNP	pfam_Radial_spoke	p.E586*	ENST00000229554.5	37	c.1756	CCDS34521.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.551915|7.551915	0.98355|0.98355	.|.	.|.	ENSG00000111834|ENSG00000111834	ENST00000368581|ENST00000229554;ENST00000447842;ENST00000368580	.|T;T	.|0.72051	.|-0.62;-0.62	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.82692	.|0.5092	.|.	.|.	.|.	0.54753|0.54753	D|D	0.999984|0.999984	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|D	.|0.84866	.|0.0822	.|9	0.87932|0.87932	D|D	0|0	-28.5613|-28.5613	16.8765|16.8765	0.86053|0.86053	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|631	.|Q5TD94	.|RSH4A_HUMAN	X|V	586|631;426;384	.|ENSP00000229554:G631V;ENSP00000357569:G384V	ENSP00000357570:E586X|ENSP00000229554:G631V	E|G	+|+	1|2	0|0	RSPH4A|RSPH4A	117058384|117058384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.461000|9.461000	0.97646|0.97646	2.592000|2.592000	0.87571|0.87571	0.591000|0.591000	0.81541|0.81541	GAG|GGA	RSPH4A	-	NULL	ENSG00000111834		0.408	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH4A	HGNC	protein_coding	OTTHUMT00000041960.1		0.00	69	0	G	NM_001010892		116951691	+1			no_errors	ENST00000368581	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	T
RSPO4	343637	genome.wustl.edu	37	20	941100	941100	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:941100G>T	ENST00000217260.4	-	5	701	c.605C>A	c.(604-606)cCc>cAc	p.P202H	RSPO4_ENST00000400634.2_Missense_Mutation_p.P140H	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	202					Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	heparin binding (GO:0008201)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTTCTGGCCGGGGCTCCTCTC	0.672																																																	0													10.0	12.0	11.0					20																	941100		1806	3872	5678	SO:0001583	missense	0			AK122609	CCDS42845.1, CCDS42846.1	20p13	2014-01-30	2011-06-29	2005-08-08	ENSG00000101282	ENSG00000101282		"""Endogenous ligands"""	16175	protein-coding gene	gene with protein product		610573	"""chromosome 20 open reading frame 182"", ""R-spondin family, member 4"""	C20orf182		15469841	Standard	NM_001029871		Approved	dJ824F16.3	uc002wej.3	Q2I0M5	OTTHUMG00000031651	ENST00000217260.4:c.605C>A	20.37:g.941100G>T	ENSP00000217260:p.Pro202His		A2A2I6|Q9UGB2	Missense_Mutation	SNP	superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.P202H	ENST00000217260.4	37	c.605	CCDS42846.1	20	.	.	.	.	.	.	.	.	.	.	g	10.45	1.353245	0.24512	.	.	ENSG00000101282	ENST00000217260;ENST00000400634	T;D	0.88277	-0.99;-2.36	4.22	-0.208	0.13185	.	1.818140	0.02705	N	0.112175	T	0.81498	0.4835	L	0.32530	0.975	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.001;0.001	T	0.63283	-0.6672	10	0.39692	T	0.17	-3.0558	1.8346	0.03137	0.108:0.1801:0.3433:0.3687	.	140;202	Q2I0M5-2;Q2I0M5	.;RSPO4_HUMAN	H	202;140	ENSP00000217260:P202H;ENSP00000383475:P140H	ENSP00000217260:P202H	P	-	2	0	RSPO4	889100	0.000000	0.05858	0.001000	0.08648	0.072000	0.16883	0.068000	0.14531	0.105000	0.17753	0.486000	0.48141	CCC	RSPO4	-	NULL	ENSG00000101282		0.672	RSPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPO4	HGNC	protein_coding	OTTHUMT00000077492.3	-	0.00	102	0	G	XM_297816		941100	-1	tier1	-	no_errors	ENST00000217260	ensembl	human	known	74_37	missense	36.36	49	28	SNP	0.000	T
RSPH14	27156	genome.wustl.edu	37	22	23404125	23404125	+	Splice_Site	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:23404125T>C	ENST00000216036.4	-	6	850		c.e6-2			NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN												breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CGAGATATGCTGGGGCAGAGA	0.547																																																	0													54.0	42.0	46.0					22																	23404125		2203	4300	6503	SO:0001630	splice_region_variant	0																														ENST00000216036.4:c.654-2A>G	22.37:g.23404125T>C				Splice_Site	SNP	-	e5-2	ENST00000216036.4	37	c.654-2	CCDS13803.1	22	.	.	.	.	.	.	.	.	.	.	T	11.31	1.600696	0.28534	.	.	ENSG00000100218	ENST00000216036	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.971	0.47438	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RTDR1	21734125	1.000000	0.71417	0.979000	0.43373	0.092000	0.18411	5.162000	0.64942	1.934000	0.56057	0.379000	0.24179	.	RTDR1	-	-	ENSG00000100218		0.547	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTDR1	HGNC	protein_coding	OTTHUMT00000319049.1	-	0.00	32	0	T		Intron	23404125	-1	tier1	-	no_errors	ENST00000216036	ensembl	human	known	74_37	splice_site	44.44	20	16	SNP	0.998	C
RTCB	51493	genome.wustl.edu	37	22	32793997	32793997	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:32793997C>T	ENST00000216038.5	-	7	843	c.745G>A	c.(745-747)Gac>Aac	p.D249N	RTCB_ENST00000476619.1_5'Flank|RTCB_ENST00000451746.2_Intron	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		CCCTTATGGTCGATGCCCATT	0.463																																																	0													188.0	150.0	163.0					22																	32793997		2203	4300	6503	SO:0001583	missense	0			BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"""focal adhesion-associated protein"""	613901	"""chromosome 22 open reading frame 28"""	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.745G>A	22.37:g.32793997C>T	ENSP00000216038:p.Asp249Asn			Missense_Mutation	SNP	pfam_RtcB,superfamily_RtcB	p.D249N	ENST00000216038.5	37	c.745	CCDS13905.1	22	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282858	0.80692	.	.	ENSG00000100220	ENST00000216038	T	0.32515	1.45	6.06	6.06	0.98353	.	0.085245	0.85682	D	0.000000	T	0.32346	0.0826	L	0.42744	1.35	0.80722	D	1	B	0.15930	0.015	B	0.15870	0.014	T	0.02632	-1.1131	10	0.38643	T	0.18	-21.4754	20.6397	0.99537	0.0:1.0:0.0:0.0	.	249	Q9Y3I0	RTCB_HUMAN	N	249	ENSP00000216038:D249N	ENSP00000216038:D249N	D	-	1	0	C22orf28	31123997	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.779000	0.85648	2.880000	0.98712	0.650000	0.86243	GAC	RTCB	-	pfam_RtcB,superfamily_RtcB	ENSG00000100220		0.463	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTCB	HGNC	protein_coding	OTTHUMT00000075188.3	-	0.00	98	0	C	NM_014306		32793997	-1	tier1	-	no_errors	ENST00000216038	ensembl	human	known	74_37	missense	32.31	44	21	SNP	1.000	T
RTEL1	51750	genome.wustl.edu	37	20	62319098	62319100	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:62319098_62319100delTCC	ENST00000360203.5	+	17	1781_1783	c.1456_1458delTCC	c.(1456-1458)tccdel	p.S487del	RTEL1_ENST00000318100.4_In_Frame_Del_p.S487del|RTEL1_ENST00000370018.3_In_Frame_Del_p.S487del|RTEL1_ENST00000508582.2_In_Frame_Del_p.S511del|RTEL1_ENST00000370003.1_5'Flank|RTEL1-TNFRSF6B_ENST00000482936.1_In_Frame_Del_p.S487del					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GGCCCCGGTGTCCTCCTTTGCTC	0.67																																																	0																																										SO:0001651	inframe_deletion	0			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.1456_1458delTCC	20.37:g.62319101_62319103delTCC	ENSP00000353332:p.Ser487del			In_Frame_Del	DEL	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.S487in_frame_del	ENST00000360203.5	37	c.1456_1458		20																																																																																			RTEL1	-	superfamily_P-loop_NTPase,tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000258366		0.670	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1		0.00	106	0	TCC	NM_032957		62319100	+1	tier1		no_errors	ENST00000318100	ensembl	human	known	74_37	in_frame_del	24.69	61	20	DEL	0.959:0.995:0.980	-
RTN3	10313	genome.wustl.edu	37	11	63525656	63525656	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:63525656delA	ENST00000377819.5	+	9	3236	c.3082delA	c.(3082-3084)aaafs	p.K1030fs	RTN3_ENST00000354497.4_Frame_Shift_Del_p.P146fs|RTN3_ENST00000540798.1_Frame_Shift_Del_p.K918fs|RTN3_ENST00000537981.1_Frame_Shift_Del_p.K234fs|RTN3_ENST00000356000.3_Frame_Shift_Del_p.K253fs|RTN3_ENST00000339997.4_Frame_Shift_Del_p.K1011fs|C11orf95_ENST00000433688.1_lincRNA|RTN3_ENST00000341307.2_Frame_Shift_Del_p.Q212fs	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	1030	Interaction with FADD.|Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGGAATCGCCAAAAAAAAGGC	0.333																																																	0													74.0	70.0	71.0					11																	63525656		2201	4298	6499	SO:0001589	frameshift_variant	0			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.3082delA	11.37:g.63525656delA	ENSP00000367050:p.Lys1030fs		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Frame_Shift_Del	DEL	pfam_Reticulon,pfscan_Reticulon	p.K1030fs	ENST00000377819.5	37	c.3082	CCDS58141.1	11																																																																																			RTN3	-	pfscan_Reticulon	ENSG00000133318		0.333	RTN3-002	KNOWN	basic|CCDS	protein_coding	RTN3	HGNC	protein_coding	OTTHUMT00000397846.1		0.00	24	0	A	NM_006054		63525656	+1	tier1		no_errors	ENST00000377819	ensembl	human	known	74_37	frame_shift_del	40.00	27	18	DEL	1.000	-
RTN4IP1	84816	genome.wustl.edu	37	6	107076703	107076703	+	Missense_Mutation	SNP	A	A	G	rs369908058		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:107076703A>G	ENST00000369063.3	-	1	659	c.194T>C	c.(193-195)aTg>aCg	p.M65T	QRSL1_ENST00000369046.4_5'Flank|QRSL1_ENST00000369044.1_5'Flank|RTN4IP1_ENST00000539449.1_Missense_Mutation_p.M65T	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	65				M -> V (in Ref. 1; AAL34525). {ECO:0000305}.		mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		TATGATAGGCATCATCATGTT	0.388																																																	0								A	THR/MET	0,4406		0,0,2203	144.0	126.0	132.0		194	5.8	0.9	6		132	1,8599	1.2+/-3.3	0,1,4299	no	missense	RTN4IP1	NM_032730.4	81	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	65/397	107076703	1,13005	2203	4300	6503	SO:0001583	missense	0			AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.194T>C	6.37:g.107076703A>G	ENSP00000358059:p.Met65Thr		Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.M65T	ENST00000369063.3	37	c.194	CCDS5056.1	6	.	.	.	.	.	.	.	.	.	.	A	15.90	2.970389	0.53614	0.0	1.16E-4	ENSG00000130347	ENST00000539449;ENST00000369063	T;T	0.41400	1.0;1.0	5.85	5.85	0.93711	GroES-like (1);	0.738282	0.14113	N	0.340561	T	0.13927	0.0337	N	0.24115	0.695	0.27587	N	0.949403	B;B	0.06786	0.001;0.0	B;B	0.14023	0.01;0.0	T	0.09250	-1.0683	10	0.13108	T	0.6	-0.4987	15.2247	0.73342	1.0:0.0:0.0:0.0	.	65;65	G3V1R2;Q8WWV3	.;RT4I1_HUMAN	T	65	ENSP00000444261:M65T;ENSP00000358059:M65T	ENSP00000358059:M65T	M	-	2	0	RTN4IP1	107183396	1.000000	0.71417	0.858000	0.33744	0.963000	0.63663	8.497000	0.90488	2.234000	0.73211	0.533000	0.62120	ATG	RTN4IP1	-	superfamily_GroES-like,smart_PKS_ER	ENSG00000130347		0.388	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4IP1	HGNC	protein_coding	OTTHUMT00000041673.1	-	0.00	47	0	A			107076703	-1	tier1	-	no_errors	ENST00000369063	ensembl	human	known	74_37	missense	18.92	30	7	SNP	0.982	G
RUFY3	22902	genome.wustl.edu	37	4	71672454	71672454	+	3'UTR	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:71672454G>T	ENST00000381006.3	+	0	2520				RUFY3_ENST00000502653.1_3'UTR|RUFY3_ENST00000512331.1_3'UTR	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GGATCTCATAGAGCCCAGTTC	0.443																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000381006.3:c.*78G>T	4.37:g.71672454G>T			B3KM25|B4DYW7|D9N163|O94948|Q9UI00	RNA	SNP	-	NULL	ENST00000381006.3	37	NULL	CCDS34001.1	4																																																																																			RUFY3	-	-	ENSG00000018189		0.443	RUFY3-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	RUFY3	HGNC	protein_coding	OTTHUMT00000252162.1	-	0.00	89	0	G	NM_014961		71672454	+1	tier1	-	no_errors	ENST00000507333	ensembl	human	known	74_37	rna	5.06	75	4	SNP	0.000	T
RUNX2	860	genome.wustl.edu	37	6	45296446	45296446	+	5'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:45296446delA	ENST00000371438.1	+	0	341				SUPT3H_ENST00000459689.1_Intron|RUNX2_ENST00000576263.1_5'Flank|SUPT3H_ENST00000306867.5_Intron|SUPT3H_ENST00000371460.1_Intron|RUNX2_ENST00000483243.1_3'UTR|SUPT3H_ENST00000371459.1_Intron|RUNX2_ENST00000371436.6_5'Flank|RUNX2_ENST00000465038.2_5'UTR|RUNX2_ENST00000541979.1_Frame_Shift_Del_p.K65fs|RUNX2_ENST00000352853.5_Frame_Shift_Del_p.K65fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2						BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GTTCTATCTGAAAAAAAAAGG	0.388																																																	0													116.0	112.0	113.0					6																	45296446		1865	4103	5968	SO:0001623	5_prime_UTR_variant	0			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.-18A>-	6.37:g.45296446delA			O14614|O14615|O95181	Frame_Shift_Del	DEL	pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt	p.G66fs	ENST00000371438.1	37	c.187	CCDS43467.2	6																																																																																			RUNX2	-	NULL	ENSG00000124813		0.388	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	RUNX2	HGNC	protein_coding	OTTHUMT00000040755.2		0.00	41	0	A	NM_004348		45296446	+1	tier1		no_errors	ENST00000352853	ensembl	human	known	74_37	frame_shift_del	75.00	12	36	DEL	0.983	-
RUSC2	9853	genome.wustl.edu	37	9	35555543	35555543	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:35555543A>C	ENST00000455600.1	+	3	3070	c.2501A>C	c.(2500-2502)cAg>cCg	p.Q834P		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	834						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCAGCCGCAGAAGGAGGAT	0.637																																																	0													49.0	48.0	49.0					9																	35555543		2203	4299	6502	SO:0001583	missense	0			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2501A>C	9.37:g.35555543A>C	ENSP00000393922:p.Gln834Pro		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.Q834P	ENST00000455600.1	37	c.2501	CCDS35008.1	9	.	.	.	.	.	.	.	.	.	.	A	4.156	0.027379	0.08054	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.22539	1.95;1.95	3.82	-1.81	0.07882	.	0.828086	0.10979	N	0.612861	T	0.07458	0.0188	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36237	-0.9756	10	0.27082	T	0.32	-0.2733	5.9208	0.19080	0.3276:0.5595:0.1129:0.0	.	834	Q8N2Y8	RUSC2_HUMAN	P	834	ENSP00000355177:Q834P;ENSP00000393922:Q834P	ENSP00000355177:Q834P	Q	+	2	0	RUSC2	35545543	0.004000	0.15560	0.842000	0.33263	0.974000	0.67602	-0.380000	0.07427	-0.166000	0.10890	0.533000	0.62120	CAG	RUSC2	-	NULL	ENSG00000198853		0.637	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RUSC2	HGNC	protein_coding	OTTHUMT00000052309.1	-	0.00	52	0	A	XM_048462		35555543	+1	tier1	-	no_errors	ENST00000361226	ensembl	human	known	74_37	missense	36.73	31	18	SNP	0.129	C
RWDD4	201965	genome.wustl.edu	37	4	184572382	184572382	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:184572382delA	ENST00000326397.5	-	3	476	c.204delT	c.(202-204)tttfs	p.F68fs	RNU6-479P_ENST00000516348.1_RNA|RWDD4_ENST00000510968.1_Intron|RWDD4_ENST00000327570.9_Frame_Shift_Del_p.F68fs|RWDD4_ENST00000512740.1_Frame_Shift_Del_p.F5fs	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4	68	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						TGGTGTTGTTAAAAAAAGCGT	0.363																																																	0													133.0	130.0	131.0					4																	184572382		2203	4300	6503	SO:0001589	frameshift_variant	0			BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"""family with sequence similarity 28, member A"", ""RWD domain containing 4A"""	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.204delT	4.37:g.184572382delA	ENSP00000388920:p.Phe68fs		B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Frame_Shift_Del	DEL	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	p.F68fs	ENST00000326397.5	37	c.204	CCDS34111.1	4																																																																																			RWDD4	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	ENSG00000182552		0.363	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RWDD4	HGNC	protein_coding	OTTHUMT00000361499.2		0.00	132	0	A	NM_152682		184572382	-1	tier1		no_errors	ENST00000326397	ensembl	human	known	74_37	frame_shift_del	34.56	89	47	DEL	0.995	-
RXFP3	51289	genome.wustl.edu	37	5	33938025	33938025	+	Missense_Mutation	SNP	C	C	T	rs376877208		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:33938025C>T	ENST00000330120.3	+	1	1535	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	394					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CCTCGTGCGCCGCGAGTTCCG	0.632																																																	0								C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	68.0	71.0	70.0		1180	5.8	1.0	5		70	0,8600		0,0,4300	no	missense	RXFP3	NM_016568.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	394/470	33938025	2,13004	2203	4300	6503	SO:0001583	missense	0			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1180C>T	5.37:g.33938025C>T	ENSP00000328708:p.Arg394Cys		Q14DA5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt	p.R394C	ENST00000330120.3	37	c.1180	CCDS3900.1	5	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969755	0.74246	4.54E-4	0.0	ENSG00000182631	ENST00000330120	T	0.40225	1.04	5.79	5.79	0.91817	.	0.051948	0.64402	D	0.000001	T	0.50188	0.1601	L	0.29908	0.895	0.54753	D	0.999985	D	0.89917	1.0	D	0.66351	0.943	T	0.50101	-0.8867	10	0.66056	D	0.02	-15.8688	13.0013	0.58676	0.2672:0.7328:0.0:0.0	.	394	Q9NSD7	RL3R1_HUMAN	C	394	ENSP00000328708:R394C	ENSP00000328708:R394C	R	+	1	0	RXFP3	33973782	0.984000	0.35163	1.000000	0.80357	0.986000	0.74619	0.441000	0.21611	2.726000	0.93360	0.655000	0.94253	CGC	RXFP3	-	prints_GPCR_Rhodpsn	ENSG00000182631		0.632	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP3	HGNC	protein_coding	OTTHUMT00000207369.1	-	0.00	43	0	C	NM_016568		33938025	+1	tier1	-	no_errors	ENST00000330120	ensembl	human	known	74_37	missense	15.00	51	9	SNP	1.000	T
RXRA	6256	genome.wustl.edu	37	9	137331938	137331939	+	3'UTR	DEL	AA	AA	-	rs369993354		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:137331938_137331939delAA	ENST00000356384.4	+	0	5277_5278							P19793	RXRA_HUMAN	retinoid X receptor, alpha						camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CTGGAAAGGTAAAAAAAAAAAA	0.381																																																	0																																										SO:0001624	3_prime_UTR_variant	0			X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000356384.4:c.*5275AA>-	9.37:g.137331948_137331949delAA			B3KY83|Q2NL52|Q2V504	RNA	DEL	-	NULL	ENST00000356384.4	37	NULL		9																																																																																			RXRA	-	-	ENSG00000186350		0.381	RXRA-001	KNOWN	basic	processed_transcript	RXRA	HGNC	protein_coding	OTTHUMT00000054948.1		0.00	8	0	AA	NM_002957		137331939	+1	tier1		no_errors	ENST00000356384	ensembl	human	known	74_37	rna	66.67	3	6	DEL	0.998:0.998	-
RXRG	6258	genome.wustl.edu	37	1	165414181	165414181	+	5'UTR	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:165414181G>A	ENST00000359842.5	-	0	252					NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma						gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	AAATATTACCGCCTCTCTCGG	0.532																																																	0													65.0	63.0	63.0					1																	165414181		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.-51C>T	1.37:g.165414181G>A			A6NIP1|Q6IBU7	RNA	SNP	-	NULL	ENST00000359842.5	37	NULL	CCDS1248.1	1																																																																																			RXRG	-	-	ENSG00000143171		0.532	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRG	HGNC	protein_coding	OTTHUMT00000083794.2	-	0.00	110	0	G	NM_006917		165414181	-1	tier1	-	no_errors	ENST00000465764	ensembl	human	known	74_37	rna	29.13	90	37	SNP	0.577	A
RYR1	6261	genome.wustl.edu	37	19	38981338	38981338	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:38981338G>A	ENST00000359596.3	+	37	6093	c.6093G>A	c.(6091-6093)ttG>ttA	p.L2031L	RYR1_ENST00000360985.3_Silent_p.L2031L|RYR1_ENST00000355481.4_Silent_p.L2031L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2031	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GACAGGATTTGCTTGACTTTC	0.463																																																	0													125.0	104.0	111.0					19																	38981338		2203	4300	6503	SO:0001819	synonymous_variant	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.6093G>A	19.37:g.38981338G>A			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L2031	ENST00000359596.3	37	c.6093	CCDS33011.1	19																																																																																			RYR1	-	superfamily_MG_RAP_rcpt_1	ENSG00000196218		0.463	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	-	0.00	38	0	G			38981338	+1	tier1	-	no_errors	ENST00000359596	ensembl	human	known	74_37	silent	42.11	22	16	SNP	0.377	A
RYR2	6262	genome.wustl.edu	37	1	237897051	237897051	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:237897051G>T	ENST00000366574.2	+	79	11403	c.11086G>T	c.(11086-11088)Gca>Tca	p.A3696S	RYR2_ENST00000360064.6_Missense_Mutation_p.A3694S|RYR2_ENST00000542537.1_Missense_Mutation_p.A3680S|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3696					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A3694T(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGATATTATGGCAAAGGTAAA	0.333																																																	1	Substitution - Missense(1)	lung(1)											106.0	96.0	99.0					1																	237897051		1823	4080	5903	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11086G>T	1.37:g.237897051G>T	ENSP00000355533:p.Ala3696Ser		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.A3694S	ENST00000366574.2	37	c.11080	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913923	0.52439	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97138	-4.26;-4.24;-4.25	5.79	5.79	0.91817	.	0.099741	0.41097	U	0.000956	D	0.95548	0.8553	L	0.54965	1.715	0.80722	D	1	B;P	0.35174	0.181;0.488	B;B	0.34385	0.042;0.181	D	0.94362	0.7588	10	0.33940	T	0.23	-14.1358	18.8212	0.92097	0.0:0.0:1.0:0.0	.	651;3696	B4DGV4;Q92736	.;RYR2_HUMAN	S	3696;3694;3680;651	ENSP00000355533:A3696S;ENSP00000353174:A3694S;ENSP00000443798:A3680S	ENSP00000353174:A3694S	A	+	1	0	RYR2	235963674	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.392000	0.79840	2.753000	0.94483	0.557000	0.71058	GCA	RYR2	-	NULL	ENSG00000198626		0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2		0.00	27	0	G	NM_001035		237897051	+1			no_errors	ENST00000360064	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T
RYR3	6263	genome.wustl.edu	37	15	34048506	34048506	+	Splice_Site	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:34048506G>T	ENST00000389232.4	+	59	8585		c.e59-1		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGTCTTCGTAGAAGCCATTGT	0.393																																																	0													66.0	61.0	63.0					15																	34048506		1852	4108	5960	SO:0001630	splice_region_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8516-1G>T	15.37:g.34048506G>T			O15175|Q15412	Splice_Site	SNP	-	e59-1	ENST00000389232.4	37	c.8516-1	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.091643	0.94149	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8551	0.96755	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR3	31835798	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.250000	0.95477	2.861000	0.98227	0.655000	0.94253	.	RYR3	-	-	ENSG00000198838		0.393	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1		0.00	49	0	G		Intron	34048506	+1			no_errors	ENST00000389232	ensembl	human	known	74_37	splice_site	6.52	43	3	SNP	1.000	T
RYR3	6263	genome.wustl.edu	37	15	34112980	34112980	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:34112980A>T	ENST00000389232.4	+	78	10852	c.10782A>T	c.(10780-10782)gaA>gaT	p.E3594D	RYR3_ENST00000415757.3_Missense_Mutation_p.E3589D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3594					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGAGGATGAAGAAGAAGATG	0.413																																																	0													76.0	68.0	70.0					15																	34112980		1889	4125	6014	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10782A>T	15.37:g.34112980A>T	ENSP00000373884:p.Glu3594Asp		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.E3594D	ENST00000389232.4	37	c.10782	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	A	10.88	1.476392	0.26511	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96992	-4.16;-4.2	5.12	4.01	0.46588	.	0.135030	0.49305	D	0.000147	D	0.90577	0.7046	L	0.41632	1.29	0.41135	D	0.985911	P;B	0.46859	0.885;0.006	B;B	0.38264	0.269;0.013	D	0.87020	0.2128	10	0.14656	T	0.56	.	5.7617	0.18203	0.8088:0.0:0.1912:0.0	.	3589;3594	Q15413-2;Q15413	.;RYR3_HUMAN	D	3594;3593;3589	ENSP00000373884:E3594D;ENSP00000399610:E3593D	ENSP00000354735:E3589D	E	+	3	2	RYR3	31900272	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.272000	0.43373	1.946000	0.56461	0.533000	0.62120	GAA	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.413	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0.00	73	0	A			34112980	+1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	44.87	43	35	SNP	1.000	T
SACS	26278	genome.wustl.edu	37	13	23910851	23910851	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:23910851G>T	ENST00000382292.3	-	9	7437	c.7164C>A	c.(7162-7164)acC>acA	p.T2388T	SACS_ENST00000382298.3_Silent_p.T2388T|SACS_ENST00000402364.1_Silent_p.T1638T			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2388					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCACACCCACGGTTTCAAAAA	0.353																																																	0													34.0	35.0	35.0					13																	23910851		2203	4299	6502	SO:0001819	synonymous_variant	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7164C>A	13.37:g.23910851G>T			O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.T2388	ENST00000382292.3	37	c.7164	CCDS9300.2	13																																																																																			SACS	-	NULL	ENSG00000151835		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	-	0.00	32	0	G	NM_014363		23910851	-1	tier1	-	no_errors	ENST00000382292	ensembl	human	known	74_37	silent	36.17	30	17	SNP	0.998	T
SACS	26278	genome.wustl.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:23914687delT	ENST00000382292.3	-	9	3601	c.3328delA	c.(3328-3330)attfs	p.I1110fs	SACS_ENST00000382298.3_Frame_Shift_Del_p.I1110fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1110					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383																																																	0													187.0	198.0	194.0					13																	23914687		2203	4300	6503	SO:0001589	frameshift_variant	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3328delA	13.37:g.23914687delT	ENSP00000371729:p.Ile1110fs		O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.I1110fs	ENST00000382292.3	37	c.3328	CCDS9300.2	13																																																																																			SACS	-	NULL	ENSG00000151835		0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3		0.00	46	0	T	NM_014363		23914687	-1	tier1		no_errors	ENST00000382292	ensembl	human	known	74_37	frame_shift_del	18.75	39	9	DEL	1.000	-
SALL3	27164	genome.wustl.edu	37	18	76753309	76753309	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:76753309C>T	ENST00000537592.2	+	2	1318	c.1318C>T	c.(1318-1320)Cgc>Tgc	p.R440C	SALL3_ENST00000575389.2_Missense_Mutation_p.R440C|SALL3_ENST00000536229.3_Missense_Mutation_p.R307C	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	440					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GATCCACCTGCGCTCGCACAC	0.612																																																	0													27.0	22.0	24.0					18																	76753309		2202	4296	6498	SO:0001583	missense	0			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1318C>T	18.37:g.76753309C>T	ENSP00000441823:p.Arg440Cys		Q9UGH1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R440C	ENST00000537592.2	37	c.1318	CCDS12013.1	18	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359557	0.41801	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.25749	1.78	4.54	4.54	0.55810	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000029	T	0.58764	0.2145	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.69109	-0.5232	10	0.87932	D	0	-54.2458	17.489	0.87698	0.0:1.0:0.0:0.0	.	172;440	F5GXY4;Q9BXA9	.;SALL3_HUMAN	C	440;440;172	ENSP00000441823:R440C	ENSP00000299466:R440C	R	+	1	0	SALL3	74854297	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.588000	0.82629	2.352000	0.79861	0.460000	0.39030	CGC	SALL3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256463		0.612	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	HGNC	protein_coding	OTTHUMT00000256397.1	-	0.00	35	0	C	NM_171999		76753309	+1	tier1	-	no_errors	ENST00000537592	ensembl	human	known	74_37	missense	47.06	18	16	SNP	1.000	T
SAMD14	201191	genome.wustl.edu	37	17	48191580	48191581	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:48191580_48191581insG	ENST00000330175.4	-	8	1229_1230	c.912_913insC	c.(910-915)ccctacfs	p.Y305fs	SAMD14_ENST00000503734.1_5'Flank|SAMD14_ENST00000503131.1_Frame_Shift_Ins_p.Y333fs	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	305										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						AGCGTGTGGTAGGGGTAAGAAC	0.599																																																	0																																										SO:0001589	frameshift_variant	0				CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.913dupC	17.37:g.48191584_48191584dupG	ENSP00000329144:p.Tyr305fs		A5D8V1|Q8N2X0	Frame_Shift_Ins	INS	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.Y332fs	ENST00000330175.4	37	c.997_996	CCDS58562.1	17																																																																																			SAMD14	-	NULL	ENSG00000167100		0.599	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD14	HGNC	protein_coding	OTTHUMT00000366661.1		0.00	36	0	-	NM_174920		48191581	-1	tier1		no_errors	ENST00000503131	ensembl	human	known	74_37	frame_shift_ins	34.62	17	9	INS	1.000:1.000	G
SAMD9	54809	genome.wustl.edu	37	7	92731997	92731997	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:92731997G>A	ENST00000379958.2	-	3	3683	c.3414C>T	c.(3412-3414)aaC>aaT	p.N1138N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1138						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CGTTTCCTCCGTTTTCCTCTA	0.378																																																	0													189.0	189.0	189.0					7																	92731997		2203	4300	6503	SO:0001819	synonymous_variant	0			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.3414C>T	7.37:g.92731997G>A			A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.N1138	ENST00000379958.2	37	c.3414	CCDS34680.1	7																																																																																			SAMD9	-	NULL	ENSG00000205413		0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	-	0.00	53	0	G	NM_017654		92731997	-1	tier1	-	no_errors	ENST00000379958	ensembl	human	known	74_37	silent	37.50	30	18	SNP	0.000	A
SAMD9	54809	genome.wustl.edu	37	7	92734717	92734717	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:92734717T>C	ENST00000379958.2	-	3	963	c.694A>G	c.(694-696)Aat>Gat	p.N232D		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	232						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATAGTGCCATTGGTACGTGAA	0.403																																																	0													137.0	131.0	133.0					7																	92734717		2203	4300	6503	SO:0001583	missense	0			AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.694A>G	7.37:g.92734717T>C	ENSP00000369292:p.Asn232Asp		A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM	p.N232D	ENST00000379958.2	37	c.694	CCDS34680.1	7	.	.	.	.	.	.	.	.	.	.	T	24.2	4.503427	0.85176	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.14893	2.47;2.47	4.56	4.56	0.56223	.	0.000000	0.64402	U	0.000003	T	0.38188	0.1031	M	0.61703	1.905	0.37966	D	0.933142	D	0.89917	1.0	D	0.87578	0.998	T	0.40997	-0.9533	10	0.87932	D	0	.	13.1383	0.59421	0.0:0.0:0.0:1.0	.	232	Q5K651	SAMD9_HUMAN	D	232	ENSP00000369292:N232D;ENSP00000414529:N232D	ENSP00000369292:N232D	N	-	1	0	SAMD9	92572653	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.525000	0.81892	2.042000	0.60477	0.491000	0.48974	AAT	SAMD9	-	NULL	ENSG00000205413		0.403	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD9	HGNC	protein_coding	OTTHUMT00000341761.1	-	0.00	90	0	T	NM_017654		92734717	-1	tier1	-	no_errors	ENST00000379958	ensembl	human	known	74_37	missense	34.78	60	32	SNP	1.000	C
SAMM50	25813	genome.wustl.edu	37	22	44351336	44351336	+	5'UTR	DEL	G	G	-	rs528784609	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:44351336delG	ENST00000350028.4	+	0	36				SAMM50_ENST00000396202.3_5'Flank|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component						cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TTCCGCGTCCGGGGGTTTGTG	0.692																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.-122G>-	22.37:g.44351336delG			Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	RNA	DEL	-	NULL	ENST00000350028.4	37	NULL	CCDS14055.1	22																																																																																			SAMM50	-	-	ENSG00000100347		0.692	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMM50	HGNC	protein_coding	OTTHUMT00000318898.2		0.00	8	0	G	NM_015380		44351336	+1	tier1		no_errors	ENST00000493161	ensembl	human	known	74_37	rna	20.00	8	2	DEL	0.000	-
SAMM50	25813	genome.wustl.edu	37	22	44392209	44392209	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:44392209delT	ENST00000350028.4	+	15	1521				SAMM50_ENST00000396202.3_Intron|PARVB_ENST00000406477.3_5'Flank	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component						cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				ATCTCTCCCCTTTTTTTAGGA	0.602																																																	0													273.0	294.0	287.0					22																	44392209		2203	4300	6503	SO:0001627	intron_variant	0			AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.1365-9T>-	22.37:g.44392209delT			Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	RNA	DEL	-	NULL	ENST00000350028.4	37	NULL	CCDS14055.1	22																																																																																			SAMM50	-	-	ENSG00000100347		0.602	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMM50	HGNC	protein_coding	OTTHUMT00000318898.2		0.00	68	0	T	NM_015380		44392209	+1	tier1		no_errors	ENST00000493621	ensembl	human	known	74_37	rna	24.62	49	16	DEL	0.000	-
SAP30BP	29115	genome.wustl.edu	37	17	73698584	73698584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:73698584C>T	ENST00000584667.1	+	6	678	c.421C>T	c.(421-423)Cga>Tga	p.R141*	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Nonsense_Mutation_p.R125*	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTTATGAACGAAAGATAAA	0.498																																																	0													76.0	76.0	76.0					17																	73698584		2203	4300	6503	SO:0001587	stop_gained	0			AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.421C>T	17.37:g.73698584C>T	ENSP00000462116:p.Arg141*			Nonsense_Mutation	SNP	pfam_SAP30BP	p.R141*	ENST00000584667.1	37	c.421	CCDS11726.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.542051	0.96474	.	.	ENSG00000161526	ENST00000355423;ENST00000542343;ENST00000293208	.	.	.	5.79	4.81	0.61882	.	0.046788	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	0.0084	13.0586	0.58994	0.44:0.56:0.0:0.0	.	.	.	.	X	141;141;125	.	ENSP00000293208:R125X	R	+	1	2	SAP30BP	71210179	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	1.079000	0.30766	1.420000	0.47138	0.650000	0.86243	CGA	SAP30BP	-	pfam_SAP30BP	ENSG00000161526		0.498	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAP30BP	HGNC	protein_coding	OTTHUMT00000448227.1	-	0.00	74	0	C	NM_013260		73698584	+1	tier1	-	no_errors	ENST00000584667	ensembl	human	known	74_37	nonsense	36.51	40	23	SNP	1.000	T
SAT1	6303	genome.wustl.edu	37	X	23802147	23802147	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:23802147delA	ENST00000379253.3	+	3	528	c.349delA	c.(349-351)aaafs	p.K119fs	SAT1_ENST00000379251.3_Frame_Shift_Del_p.K149fs|SAT1_ENST00000379270.4_Intron|SAT1_ENST00000489394.1_Intron|Y_RNA_ENST00000365402.1_RNA|RP13-314C10.5_ENST00000366134.2_RNA|SAT1_ENST00000379254.1_Intron			Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.N150fs*13(3)		breast(1)|endometrium(3)|kidney(3)|lung(3)	10						ACTACTGAGGAAAAAAAAAAA	0.398																																																	3	Deletion - Frameshift(3)	large_intestine(3)																																								SO:0001589	frameshift_variant	0			M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 1"""	313020	"""spermidine/spermine N1-acetyltransferase"""	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	ENST00000379253.3:c.349delA	X.37:g.23802147delA	ENSP00000368555:p.Lys119fs		A8K9N2|Q7Z5R3|Q96BK0	Frame_Shift_Del	DEL	superfamily_Acyl_CoA_acyltransferase	p.N150fs	ENST00000379253.3	37	c.439		X																																																																																			SAT1	-	NULL	ENSG00000130066		0.398	SAT1-003	KNOWN	basic	protein_coding	SAT1	HGNC	protein_coding	OTTHUMT00000056058.1		0.00	13	0	A	NM_002970		23802147	+1	tier1		no_errors	ENST00000379251	ensembl	human	known	74_37	frame_shift_del	64.29	5	9	DEL	0.001	-
SBF1	6305	genome.wustl.edu	37	22	50900786	50900788	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:50900786_50900788delCTT	ENST00000390679.3	-	19	2426_2428	c.2242_2244delAAG	c.(2242-2244)aagdel	p.K748del	SBF1_ENST00000348911.6_In_Frame_Del_p.K749del|SBF1_ENST00000380817.3_In_Frame_Del_p.K748del			O95248	MTMR5_HUMAN	SET binding factor 1	748					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCTCCTCCTTCTGCACCAGC	0.626																																																	0																																										SO:0001651	inframe_deletion	0			U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2242_2244delAAG	22.37:g.50900786_50900788delCTT	ENSP00000375097:p.Lys748del		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	In_Frame_Del	DEL	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.K748in_frame_del	ENST00000390679.3	37	c.2244_2242		22																																																																																			SBF1	-	pfam_SBF2	ENSG00000100241		0.626	SBF1-201	KNOWN	basic	protein_coding	SBF1	HGNC	protein_coding			0.00	72	0	CTT			50900788	-1	tier1		no_errors	ENST00000380817	ensembl	human	known	74_37	in_frame_del	33.33	32	16	DEL	1.000:1.000:1.000	-
SBNO1	55206	genome.wustl.edu	37	12	123794283	123794283	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:123794283delT	ENST00000602398.1	-	26	3543	c.3416delA	c.(3415-3417)aatfs	p.N1139fs	SBNO1_ENST00000420886.2_Frame_Shift_Del_p.N1139fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1139					regulation of transcription, DNA-templated (GO:0006355)			p.N1138fs*9(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATATCTTCCATTTTTTTTGGC	0.388																																																	1	Deletion - Frameshift(1)	large_intestine(1)											134.0	131.0	132.0					12																	123794283		2203	4300	6503	SO:0001589	frameshift_variant	0			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3416delA	12.37:g.123794283delT	ENSP00000473665:p.Asn1139fs		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Frame_Shift_Del	DEL	pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like	p.N1139fs	ENST00000602398.1	37	c.3416	CCDS53844.1	12																																																																																			SBNO1	-	NULL	ENSG00000139697		0.388	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1		0.00	53	0	T	NM_018183		123794283	-1	tier1		no_errors	ENST00000420886	ensembl	human	known	74_37	frame_shift_del	38.30	29	18	DEL	1.000	-
SBSN	374897	genome.wustl.edu	37	19	36017923	36017924	+	Frame_Shift_Ins	INS	-	-	C	rs554628241		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:36017923_36017924insC	ENST00000452271.2	-	1	1288_1289	c.1260_1261insG	c.(1258-1263)gggcagfs	p.Q421fs	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	421	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGGCCAAACTGCCCCGCCTCCC	0.619																																																	0																																										SO:0001589	frameshift_variant	0			AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1261dupG	19.37:g.36017927_36017927dupC	ENSP00000430242:p.Gln421fs		A8K5J0|E9PBV3	Frame_Shift_Ins	INS	NULL	p.Q420fs	ENST00000452271.2	37	c.1261_1260	CCDS54253.1	19																																																																																			SBSN	-	NULL	ENSG00000189001		0.619	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SBSN	HGNC	protein_coding	OTTHUMT00000109463.3		0.00	49	0	-	NM_198538		36017924	-1	tier1		no_errors	ENST00000452271	ensembl	human	novel	74_37	frame_shift_ins	47.17	28	25	INS	0.000:0.000	C
SCAF11	9169	genome.wustl.edu	37	12	46321475	46321475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:46321475delT	ENST00000369367.3	-	11	2242	c.2009delA	c.(2008-2010)aatfs	p.N671fs	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Frame_Shift_Del_p.N356fs|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.N671fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.N479fs	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	671					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CAGAAGATTATTTTTTAGTAA	0.308																																																	0													71.0	76.0	74.0					12																	46321475		2203	4297	6500	SO:0001589	frameshift_variant	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2009delA	12.37:g.46321475delT	ENSP00000358374:p.Asn671fs		A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Del	DEL	smart_Znf_RING,pfscan_Znf_RING	p.N670fs	ENST00000369367.3	37	c.2009	CCDS8748.2	12																																																																																			SCAF11	-	NULL	ENSG00000139218		0.308	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2		0.00	18	0	T	NM_004719		46321475	-1	tier1		no_errors	ENST00000369367	ensembl	human	known	74_37	frame_shift_del	24.00	19	6	DEL	0.287	-
SCAMP1	9522	genome.wustl.edu	37	5	77772628	77772629	+	3'UTR	DEL	AA	AA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:77772628_77772629delAA	ENST00000339292.4	+	0	2242_2243				SCAMP1_ENST00000538629.1_3'UTR			O15126	SCAM1_HUMAN	secretory carrier membrane protein 1						endocytosis (GO:0006897)|exocytosis (GO:0006887)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	clathrin-coated vesicle (GO:0030136)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|synaptic vesicle membrane (GO:0030672)|trans-Golgi network (GO:0005802)|zymogen granule membrane (GO:0042589)							all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TTCCAGCAATAAAAAAAAAAGC	0.312																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF038966	CCDS75264.1	5q14.1	2013-02-21			ENSG00000085365	ENSG00000085365		"""Secretory carrier membrane proteins"""	10563	protein-coding gene	gene with protein product		606911				9378760	Standard	NM_004866		Approved	SCAMP37	uc003kfl.3	O15126	OTTHUMG00000162479	ENST00000339292.4:c.*2240AA>-	5.37:g.77772636_77772637delAA			O43587|Q6FG23|Q96BX1|Q96QK5	RNA	DEL	-	NULL	ENST00000339292.4	37	NULL		5																																																																																			SCAMP1	-	-	ENSG00000085365		0.312	SCAMP1-001	KNOWN	sequence_error|basic|exp_conf	processed_transcript	SCAMP1	HGNC	protein_coding	OTTHUMT00000369096.2		0.00	19	0	AA	NM_004866		77772629	+1	tier1		no_errors	ENST00000320280	ensembl	human	known	74_37	rna	38.89	11	7	DEL	0.109:0.094	-
SCAP	22937	genome.wustl.edu	37	3	47462072	47462072	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:47462072C>T	ENST00000265565.5	-	12	1947	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	SCAP_ENST00000545718.1_Missense_Mutation_p.R120H|SCAP_ENST00000441517.2_Missense_Mutation_p.R257H|SCAP_ENST00000465628.1_5'Flank	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	512					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CAGGCGGGTGCGGGCCAGGAA	0.667											OREG0015548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(149;978 1908 29304 37806 46700)												0													38.0	41.0	40.0					3																	47462072		2203	4300	6503	SO:0001583	missense	0			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1535G>A	3.37:g.47462072C>T	ENSP00000265565:p.Arg512His	947	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R512H	ENST00000265565.5	37	c.1535	CCDS2755.2	3	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148200	0.78001	.	.	ENSG00000114650	ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	D;D;T	0.82619	-1.63;-1.59;0.5	5.03	5.03	0.67393	.	0.058096	0.64402	D	0.000006	T	0.79215	0.4408	L	0.47716	1.5	0.46927	D	0.999253	P;P	0.42871	0.641;0.792	B;B	0.37304	0.133;0.246	T	0.82321	-0.0515	10	0.59425	D	0.04	-23.3549	18.138	0.89627	0.0:1.0:0.0:0.0	.	257;512	F8W921;Q12770	.;SCAP_HUMAN	H	139;512;257;120	ENSP00000265565:R512H;ENSP00000416847:R257H;ENSP00000438956:R120H	ENSP00000265565:R512H	R	-	2	0	SCAP	47437076	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.686000	0.68211	2.629000	0.89072	0.462000	0.41574	CGC	SCAP	-	NULL	ENSG00000114650		0.667	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAP	HGNC	protein_coding	OTTHUMT00000246872.2	-	0.00	163	0	C	NM_012235		47462072	-1	tier1	-	no_errors	ENST00000265565	ensembl	human	known	74_37	missense	29.13	73	30	SNP	1.000	T
SCAPER	49855	genome.wustl.edu	37	15	77067201	77067201	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:77067201delT	ENST00000563290.1	-	9	1125	c.1030delA	c.(1030-1032)accfs	p.T344fs	SCAPER_ENST00000562890.1_5'Flank|SCAPER_ENST00000538941.2_Frame_Shift_Del_p.T98fs|SCAPER_ENST00000324767.7_Frame_Shift_Del_p.T344fs			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	344						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ACTACCTGGGTTTTTTCGGCA	0.353																																																	0													66.0	64.0	64.0					15																	77067201		1835	4085	5920	SO:0001589	frameshift_variant	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1030delA	15.37:g.77067201delT	ENSP00000454973:p.Thr344fs		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Frame_Shift_Del	DEL	smart_Znf_U1	p.T344fs	ENST00000563290.1	37	c.1030	CCDS53962.1	15																																																																																			SCAPER	-	NULL	ENSG00000140386		0.353	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1		0.00	46	0	T	NM_020843		77067201	-1	tier1		no_errors	ENST00000324767	ensembl	human	known	74_37	frame_shift_del	41.86	25	18	DEL	1.000	-
SCAPER	49855	genome.wustl.edu	37	15	76958034	76958034	+	Nonsense_Mutation	SNP	T	T	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:76958034T>A	ENST00000563290.1	-	21	2700	c.2605A>T	c.(2605-2607)Aaa>Taa	p.K869*	SCAPER_ENST00000538941.2_Nonsense_Mutation_p.K623*|SCAPER_ENST00000324767.7_Nonsense_Mutation_p.K869*			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	869						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GCTTTTTTTTTATTTTTTTGC	0.348																																																	0													57.0	51.0	53.0					15																	76958034		1777	4048	5825	SO:0001587	stop_gained	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2605A>T	15.37:g.76958034T>A	ENSP00000454973:p.Lys869*		F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Nonsense_Mutation	SNP	smart_Znf_U1	p.K869*	ENST00000563290.1	37	c.2605	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	T	42	9.472615	0.99181	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	.	.	.	5.93	4.78	0.61160	.	0.107147	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2329	0.59953	0.0:0.0:0.1327:0.8673	.	.	.	.	X	869;623;891	.	ENSP00000303560:K891X	K	-	1	0	SCAPER	74745089	0.999000	0.42202	0.984000	0.44739	0.969000	0.65631	2.872000	0.48467	1.035000	0.39972	0.482000	0.46254	AAA	SCAPER	-	NULL	ENSG00000140386		0.348	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1		0.00	51	0	T	NM_020843		76958034	-1			no_errors	ENST00000324767	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	0.865	A
SCARA3	51435	genome.wustl.edu	37	8	27516366	27516366	+	Missense_Mutation	SNP	G	G	A	rs200594740		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:27516366G>A	ENST00000301904.3	+	5	699	c.679G>A	c.(679-681)Gtg>Atg	p.V227M	SCARA3_ENST00000337221.4_Missense_Mutation_p.V227M	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	227					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CAACTTCACCGTGGGGCAGAC	0.597																																																	0													49.0	49.0	49.0					8																	27516366		2203	4300	6503	SO:0001583	missense	0			AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.679G>A	8.37:g.27516366G>A	ENSP00000301904:p.Val227Met		Q9UM15|Q9UM16	Missense_Mutation	SNP	pfam_Collagen	p.V227M	ENST00000301904.3	37	c.679	CCDS34871.1	8	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354401	0.41700	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	T;T	0.78816	-1.21;1.73	6.03	3.24	0.37175	.	0.234468	0.42294	N	0.000727	T	0.59018	0.2163	N	0.19112	0.55	0.35970	D	0.835279	B;B	0.28801	0.145;0.223	B;B	0.21546	0.035;0.01	T	0.57051	-0.7877	10	0.38643	T	0.18	-4.281	7.2579	0.26187	0.1462:0.0:0.7165:0.1373	.	227;227	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	M	227	ENSP00000337985:V227M;ENSP00000301904:V227M	ENSP00000301904:V227M	V	+	1	0	SCARA3	27572285	0.874000	0.30092	0.238000	0.24106	0.987000	0.75469	1.230000	0.32612	0.417000	0.25871	0.655000	0.94253	GTG	SCARA3	-	NULL	ENSG00000168077		0.597	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA3	HGNC	protein_coding	OTTHUMT00000376258.2	-	0.00	36	0	G	NM_016240		27516366	+1	tier1	rs200594740	no_errors	ENST00000301904	ensembl	human	known	74_37	missense	19.23	21	5	SNP	0.827	A
SCARF2	91179	genome.wustl.edu	37	22	20780161	20780161	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:20780161G>T	ENST00000266214.5	-	11	2221	c.2117C>A	c.(2116-2118)cCc>cAc	p.P706H	SCARF2_ENST00000405555.3_Missense_Mutation_p.P701H	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	706	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TTTGTCGCTGGGCGTCCGTTT	0.746																																																	0													17.0	13.0	15.0					22																	20780161		2180	4242	6422	SO:0001583	missense	0			AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2117C>A	22.37:g.20780161G>T	ENSP00000266214:p.Pro706His		E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom	p.P701H	ENST00000266214.5	37	c.2102	CCDS13779.1	22	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068798	0.76301	.	.	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.22134	2.02;1.97	3.38	3.38	0.38709	.	0.296844	0.27289	U	0.020058	T	0.28699	0.0711	N	0.24115	0.695	0.25628	N	0.98634	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.02505	-1.1149	10	0.48119	T	0.1	.	10.483	0.44704	0.0:0.0:1.0:0.0	.	701;701	E5RFB8;Q96GP6	.;SREC2_HUMAN	H	701;701;706	ENSP00000385589:P701H;ENSP00000266214:P706H	ENSP00000266214:P706H	P	-	2	0	SCARF2	19110161	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.750000	0.62162	1.917000	0.55516	0.447000	0.29281	CCC	SCARF2	-	NULL	ENSG00000244486		0.746	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SCARF2	HGNC	protein_coding	OTTHUMT00000320047.1	-	0.00	73	0	G			20780161	-1	tier1	-	no_errors	ENST00000405555	ensembl	human	known	74_37	missense	41.67	35	25	SNP	1.000	T
SCCPDH	51097	genome.wustl.edu	37	1	246923522	246923522	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:246923522delA	ENST00000366510.3	+	9	1359	c.983delA	c.(982-984)caafs	p.Q328fs		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	328						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GGCCCAACACAAAAACAGGTA	0.323																																																	0													55.0	56.0	56.0					1																	246923522		2203	4295	6498	SO:0001589	frameshift_variant	0				CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.983delA	1.37:g.246923522delA	ENSP00000355467:p.Gln328fs		Q8TAR0|Q9Y363	Frame_Shift_Del	DEL	pfam_Saccharopine_DH/HSpermid_syn	p.K329fs	ENST00000366510.3	37	c.983	CCDS31084.1	1																																																																																			SCCPDH	-	pfam_Saccharopine_DH/HSpermid_syn	ENSG00000143653		0.323	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCCPDH	HGNC	protein_coding	OTTHUMT00000096902.2		0.00	47	0	A	NM_016002		246923522	+1	tier1		no_errors	ENST00000366510	ensembl	human	known	74_37	frame_shift_del	25.00	54	18	DEL	1.000	-
SCD	6319	genome.wustl.edu	37	10	102107979	102107979	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:102107979G>T	ENST00000370355.2	+	2	567	c.186G>T	c.(184-186)aaG>aaT	p.K62N	RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	62					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		ACAAGGATAAGGAAGGCCCAA	0.458																																					Colon(67;260 1459 9574 11663)												0													140.0	139.0	139.0					10																	102107979		2203	4300	6503	SO:0001583	missense	0			AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.186G>T	10.37:g.102107979G>T	ENSP00000359380:p.Lys62Asn		B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.K62N	ENST00000370355.2	37	c.186	CCDS7493.1	10	.	.	.	.	.	.	.	.	.	.	G	11.57	1.676658	0.29783	.	.	ENSG00000099194	ENST00000423840;ENST00000370355	T	0.15139	2.45	5.11	-1.42	0.08913	.	0.538685	0.17714	N	0.164477	T	0.14614	0.0353	M	0.68728	2.09	0.33568	D	0.598276	B	0.22683	0.073	B	0.26094	0.066	T	0.08576	-1.0715	10	0.45353	T	0.12	-9.287	2.2227	0.03976	0.4055:0.1189:0.3543:0.1213	.	62	O00767	ACOD_HUMAN	N	62	ENSP00000359380:K62N	ENSP00000359380:K62N	K	+	3	2	SCD	102097969	0.999000	0.42202	0.507000	0.27676	0.528000	0.34623	0.614000	0.24314	-0.215000	0.10063	0.561000	0.74099	AAG	SCD	-	NULL	ENSG00000099194		0.458	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD	HGNC	protein_coding	OTTHUMT00000049857.2	-	0.00	71	0	G	NM_005063		102107979	+1	tier1	-	no_errors	ENST00000370355	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.996	T
SCIN	85477	genome.wustl.edu	37	7	12668733	12668733	+	Missense_Mutation	SNP	G	G	A	rs375869092	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:12668733G>A	ENST00000297029.5	+	9	1306	c.1205G>A	c.(1204-1206)cGt>cAt	p.R402H	SCIN_ENST00000445618.2_Missense_Mutation_p.R155H|SCIN_ENST00000519209.1_Missense_Mutation_p.R155H|SCIN_ENST00000473722.1_3'UTR	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	402	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAGATTTGGCGTGTAGAAAAC	0.338													G|||	3	0.000599042	0.0008	0.0	5008	,	,		16007	0.001		0.0	False		,,,				2504	0.001																0								G	HIS/ARG,HIS/ARG	0,3742		0,0,1871	115.0	107.0	110.0		1205,464	5.1	1.0	7		110	1,8203		0,1,4101	no	missense,missense	SCIN	NM_001112706.2,NM_033128.3	29,29	0,1,5972	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging,probably-damaging	402/716,155/469	12668733	1,11945	1871	4102	5973	SO:0001583	missense	0			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.1205G>A	7.37:g.12668733G>A	ENSP00000297029:p.Arg402His		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin	p.R402H	ENST00000297029.5	37	c.1205	CCDS47545.1	7	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978075	0.92982	0.0	1.22E-4	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.15834	2.39;2.39;2.39	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68484	-0.5396	10	0.87932	D	0	-9.7602	18.8744	0.92328	0.0:0.0:1.0:0.0	.	402	Q9Y6U3	ADSV_HUMAN	H	402;155;155	ENSP00000297029:R402H;ENSP00000430997:R155H;ENSP00000390189:R155H	ENSP00000297029:R402H	R	+	2	0	SCIN	12635258	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.420000	0.97426	2.518000	0.84900	0.462000	0.41574	CGT	SCIN	-	smart_Villin/Gelsolin	ENSG00000006747		0.338	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCIN	HGNC	protein_coding	OTTHUMT00000326041.1	-	0.00	35	0	G	NM_033128		12668733	+1	tier1	-	no_errors	ENST00000297029	ensembl	human	known	74_37	missense	42.11	33	24	SNP	1.000	A
SCML4	256380	genome.wustl.edu	37	6	108066223	108066223	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:108066223G>T	ENST00000369020.3	-	5	857	c.612C>A	c.(610-612)caC>caA	p.H204Q	SCML4_ENST00000479803.1_5'Flank|SCML4_ENST00000369022.2_Missense_Mutation_p.H146Q|SCML4_ENST00000369021.3_Missense_Mutation_p.H175Q	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGAAGGGCTGGTGGCTGAAGA	0.612																																																	0													82.0	70.0	74.0					6																	108066223		2203	4300	6503	SO:0001583	missense	0				CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.612C>A	6.37:g.108066223G>T	ENSP00000358016:p.His204Gln		B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	pfam_DUF3588	p.H175Q	ENST00000369020.3	37	c.525	CCDS5060.2	6	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147352	0.57151	.	.	ENSG00000146285	ENST00000369022;ENST00000369020;ENST00000369021;ENST00000440927	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.38	5.38	0.77491	.	0.252204	0.45126	D	0.000394	T	0.29652	0.0740	L	0.29908	0.895	0.34566	D	0.71289	P;P;D	0.53462	0.784;0.773;0.96	P;P;P	0.51701	0.494;0.449;0.677	T	0.03433	-1.1037	10	0.29301	T	0.29	.	14.5831	0.68305	0.0714:0.0:0.9286:0.0	.	204;204;175	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	Q	146;204;175;175	ENSP00000358018:H146Q;ENSP00000358016:H204Q;ENSP00000358017:H175Q;ENSP00000404688:H175Q	ENSP00000358016:H204Q	H	-	3	2	SCML4	108172916	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.773000	0.26661	2.793000	0.96121	0.655000	0.94253	CAC	SCML4	-	pfam_DUF3588	ENSG00000146285		0.612	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SCML4	HGNC	protein_coding	OTTHUMT00000041700.3		0.00	55	0	G	XM_171128		108066223	-1			no_errors	ENST00000369021	ensembl	human	known	74_37	missense	7.14	26	2	SNP	1.000	T
SCN11A	11280	genome.wustl.edu	37	3	38949441	38949441	+	Splice_Site	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:38949441delT	ENST00000302328.3	-	10	1670	c.1472delA	c.(1471-1473)aag>ag	p.K491fs	AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000456224.3_Splice_Site_p.K491fs|SCN11A_ENST00000450244.1_Splice_Site_p.K491fs|SCN11A_ENST00000444237.2_Splice_Site_p.K491fs	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	491					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGACTTACCTTTTTTTGGCA	0.388																																																	0													67.0	71.0	70.0					3																	38949441		2203	4300	6503	SO:0001630	splice_region_variant	0			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1473+1A>-	3.37:g.38949441delT			A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Frame_Shift_Del	DEL	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.K491fs	ENST00000302328.3	37	c.1472	CCDS33737.1	3																																																																																			SCN11A	-	NULL	ENSG00000168356		0.388	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN11A	HGNC	protein_coding	OTTHUMT00000109746.4		0.00	24	0	T	NM_014139	Frame_Shift_Del	38949441	-1	tier1		no_errors	ENST00000302328	ensembl	human	known	74_37	frame_shift_del	19.23	21	5	DEL	0.352	-
SCN4A	6329	genome.wustl.edu	37	17	62020367	62020367	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:62020367G>T	ENST00000435607.1	-	23	4183	c.4107C>A	c.(4105-4107)acC>acA	p.T1369T	SCN4A_ENST00000578147.1_Silent_p.T1369T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1369					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCACCATCATGGTGACCATGT	0.512																																																	0													229.0	210.0	217.0					17																	62020367		2203	4300	6503	SO:0001819	synonymous_variant	0			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4107C>A	17.37:g.62020367G>T			Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.T1369	ENST00000435607.1	37	c.4107	CCDS45761.1	17																																																																																			SCN4A	-	NULL	ENSG00000007314		0.512	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		-	0.00	79	0	G	NM_000334		62020367	-1	tier1	-	no_errors	ENST00000435607	ensembl	human	known	74_37	silent	5.38	88	5	SNP	1.000	T
SCN7A	6332	genome.wustl.edu	37	2	167313546	167313546	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:167313546A>G	ENST00000409855.1	-	10	1250	c.1124T>C	c.(1123-1125)gTg>gCg	p.V375A		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	375					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ACTTACCACCACAAAAAATAT	0.348																																																	0													69.0	61.0	63.0					2																	167313546		1815	4075	5890	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1124T>C	2.37:g.167313546A>G	ENSP00000386796:p.Val375Ala			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.V375A	ENST00000409855.1	37	c.1124	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	A	17.75	3.466144	0.63625	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98947	-5.26;-5.26;-5.26	5.35	5.35	0.76521	Ion transport (1);	0.000000	0.47852	D	0.000220	D	0.98378	0.9461	M	0.80982	2.52	0.38848	D	0.956217	P	0.45634	0.863	P	0.48227	0.571	D	0.99909	1.1192	10	0.87932	D	0	.	13.2728	0.60170	1.0:0.0:0.0:0.0	.	375	Q01118	SCN7A_HUMAN	A	375	ENSP00000386796:V375A;ENSP00000413699:V375A;ENSP00000403846:V375A	ENSP00000259060:V375A	V	-	2	0	SCN7A	167021792	1.000000	0.71417	0.986000	0.45419	0.328000	0.28507	9.216000	0.95154	2.006000	0.58801	0.454000	0.30748	GTG	SCN7A	-	pfam_Ion_trans_dom	ENSG00000136546		0.348	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	-	0.00	36	0	A			167313546	-1	tier1	-	no_errors	ENST00000409855	ensembl	human	known	74_37	missense	53.85	12	14	SNP	0.998	G
SCN8A	6334	genome.wustl.edu	37	12	52156424	52156424	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:52156424C>T	ENST00000354534.6	+	15	2686	c.2508C>T	c.(2506-2508)gaC>gaT	p.D836D	SCN8A_ENST00000545061.1_Silent_p.D836D|SCN8A_ENST00000550891.1_Silent_p.D836D	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	836					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GTCTAGCAGACGTGGAGGGGC	0.408																																																	0													125.0	122.0	123.0					12																	52156424		1876	4131	6007	SO:0001819	synonymous_variant	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2508C>T	12.37:g.52156424C>T			B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.D836	ENST00000354534.6	37	c.2508	CCDS44891.1	12																																																																																			SCN8A	-	pfam_Ion_trans_dom	ENSG00000196876		0.408	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	-	0.00	47	0	C	NM_014191		52156424	+1	tier1	-	no_errors	ENST00000354534	ensembl	human	known	74_37	silent	48.65	19	18	SNP	0.931	T
SCNM1	79005	genome.wustl.edu	37	1	151139074	151139075	+	Intron	DEL	TT	TT	-	rs587640752	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:151139074_151139075delTT	ENST00000368905.4	+	2	233				LYSMD1_ENST00000440902.2_5'Flank|SCNM1_ENST00000461862.1_Intron|LYSMD1_ENST00000368908.5_5'Flank	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCAATAGACTTtttttttttt	0.54																																																	0																																										SO:0001627	intron_variant	0			BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258	ENST00000368905.4:c.122+57TT>-	1.37:g.151139084_151139085delTT			B4DWR1|Q5JR74	RNA	DEL	-	NULL	ENST00000368905.4	37	NULL	CCDS987.1	1																																																																																			SCNM1	-	-	ENSG00000163156		0.540	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SCNM1	HGNC	protein_coding	OTTHUMT00000034064.2		0.00	32	0	TT	NM_024041		151139075	+1	tier1		no_errors	ENST00000471039	ensembl	human	putative	74_37	rna	15.38	33	6	DEL	0.045:0.054	-
SCNM1	79005	genome.wustl.edu	37	1	151139074	151139076	+	Intron	DEL	TTT	TTT	-	rs587640752	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:151139074_151139076delTTT	ENST00000368905.4	+	2	233				LYSMD1_ENST00000440902.2_5'Flank|SCNM1_ENST00000461862.1_Intron|LYSMD1_ENST00000368908.5_5'Flank	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCAATAGACTTttttttttttt	0.542																																																	0																																										SO:0001627	intron_variant	0			BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258	ENST00000368905.4:c.122+57TTT>-	1.37:g.151139083_151139085delTTT			B4DWR1|Q5JR74	RNA	DEL	-	NULL	ENST00000368905.4	37	NULL	CCDS987.1	1																																																																																			SCNM1	-	-	ENSG00000163156		0.542	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SCNM1	HGNC	protein_coding	OTTHUMT00000034064.2		0.00	32	0	TTT	NM_024041		151139076	+1	tier1		no_errors	ENST00000471039	ensembl	human	putative	74_37	rna	30.77	27	12	DEL	0.045:0.054:0.071	-
SCRN2	90507	genome.wustl.edu	37	17	45915676	45915676	+	Missense_Mutation	SNP	C	C	T	rs374214556		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:45915676C>T	ENST00000290216.9	-	7	1204	c.1079G>A	c.(1078-1080)cGt>cAt	p.R360H	SCRN2_ENST00000584123.1_Missense_Mutation_p.R368H|SCRN2_ENST00000407215.3_Missense_Mutation_p.R360H	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	360						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CTGGTGTCCACGGTAGAGGGT	0.622																																																	0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	63.0	65.0	64.0		1079,1079	2.5	0.1	17		64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SCRN2	NM_001145023.1,NM_138355.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	360/379,360/426	45915676	1,13005	2203	4300	6503	SO:0001583	missense	0			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.1079G>A	17.37:g.45915676C>T	ENSP00000290216:p.Arg360His		A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	pfam_Peptidase_C69,pfam_Pept_C45_AAT	p.R360H	ENST00000290216.9	37	c.1079	CCDS11519.1	17	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508717	0.27036	0.0	1.16E-4	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.08896	3.14;3.04	5.66	2.55	0.30701	.	0.499362	0.22386	N	0.060756	T	0.10551	0.0258	M	0.69823	2.125	0.09310	N	1	P;D;P	0.53151	0.909;0.958;0.909	B;B;B	0.42030	0.306;0.373;0.306	T	0.18681	-1.0329	10	0.66056	D	0.02	-4.0E-4	6.8601	0.24062	0.1323:0.6697:0.1275:0.0705	.	360;360;360	E9PBV5;Q96FV2;B7Z8S7	.;SCRN2_HUMAN;.	H	360	ENSP00000290216:R360H;ENSP00000383935:R360H	ENSP00000290216:R360H	R	-	2	0	SCRN2	43270675	0.000000	0.05858	0.098000	0.21074	0.236000	0.25371	0.157000	0.16402	0.322000	0.23283	-0.176000	0.13171	CGT	SCRN2	-	NULL	ENSG00000141295		0.622	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN2	HGNC	protein_coding	OTTHUMT00000441383.1	-	0.00	67	0	C	NM_138355		45915676	-1	tier1	-	no_errors	ENST00000290216	ensembl	human	known	74_37	missense	53.85	18	21	SNP	0.002	T
SCUBE2	57758	genome.wustl.edu	37	11	9069061	9069061	+	Missense_Mutation	SNP	C	C	T	rs144080898	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:9069061C>T	ENST00000309263.3	-	15	1829	c.1757G>A	c.(1756-1758)cGt>cAt	p.R586H	SCUBE2_ENST00000450649.2_Missense_Mutation_p.R460H|SCUBE2_ENST00000457346.2_Missense_Mutation_p.R615H|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.R615H			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	586						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R586H(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		GATGGCTTTACGGAGCCGCTT	0.567																																																	1	Substitution - Missense(1)	large_intestine(1)						C	HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	82.0	68.0	73.0		1379,1844	5.2	1.0	11	dbSNP_134	73	2,8590	3.0+/-9.4	0,2,4294	yes	missense,missense	SCUBE2	NM_001170690.1,NM_020974.2	29,29	0,3,6494	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	460/808,615/972	9069061	3,12991	2201	4296	6497	SO:0001583	missense	0			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.1757G>A	11.37:g.9069061C>T	ENSP00000310658:p.Arg586His		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.R615H	ENST00000309263.3	37	c.1844		11	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630560	0.87660	2.27E-4	2.33E-4	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467	T;T;D;D	0.84589	-1.3;-1.41;-1.87;-1.51	5.21	5.21	0.72293	.	0.048843	0.85682	D	0.000000	D	0.91355	0.7273	M	0.68952	2.095	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.997	D;D;P	0.66196	0.942;0.933;0.818	D	0.91946	0.5567	10	0.72032	D	0.01	.	19.1303	0.93402	0.0:1.0:0.0:0.0	.	460;615;586	Q9NQ36-3;Q9NQ36-2;Q9NQ36	.;.;SCUB2_HUMAN	H	615;586;460;615	ENSP00000390481:R615H;ENSP00000310658:R586H;ENSP00000415187:R460H;ENSP00000429969:R615H	ENSP00000310658:R586H	R	-	2	0	SCUBE2	9025637	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	5.890000	0.69774	2.603000	0.88011	0.655000	0.94253	CGT	SCUBE2	-	NULL	ENSG00000175356		0.567	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	-	0.00	49	0	C	NM_020974		9069061	-1	tier1	rs144080898	no_errors	ENST00000457346	ensembl	human	known	74_37	missense	39.22	31	20	SNP	1.000	T
SCYL3	57147	genome.wustl.edu	37	1	169836093	169836093	+	Silent	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:169836093C>A	ENST00000367770.1	-	7	806	c.759G>T	c.(757-759)gtG>gtT	p.V253V	SCYL3_ENST00000367771.6_Silent_p.V253V|SCYL3_ENST00000367772.4_Silent_p.V253V|SCYL3_ENST00000470238.1_5'UTR			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	253					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCAAGAAATTCACAACTTCCA	0.289																																																	0													41.0	42.0	42.0					1																	169836093		2197	4290	6487	SO:0001819	synonymous_variant	0			BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.759G>T	1.37:g.169836093C>A			A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom	p.V253	ENST00000367770.1	37	c.759	CCDS1287.1	1																																																																																			SCYL3	-	NULL	ENSG00000000457		0.289	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SCYL3	HGNC	protein_coding	OTTHUMT00000087550.4	-	0.00	54	0	C	NM_181093		169836093	-1	tier1	-	no_errors	ENST00000367770	ensembl	human	known	74_37	silent	16.67	45	9	SNP	1.000	A
SDHD	6392	genome.wustl.edu	37	11	111959653	111959653	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:111959653G>T	ENST00000375549.3	+	3	367	c.232G>T	c.(232-234)Ggt>Tgt	p.G78C	SDHD_ENST00000528021.1_Missense_Mutation_p.G78C|TIMM8B_ENST00000507614.1_5'Flank|SDHD_ENST00000532699.1_Missense_Mutation_p.G78C|TIMM8B_ENST00000504148.2_5'Flank|SDHD_ENST00000528048.1_Intron|SDHD_ENST00000525291.1_Missense_Mutation_p.G39C|SDHD_ENST00000526592.1_Missense_Mutation_p.G78C|SDHD_ENST00000528182.1_Missense_Mutation_p.G78C|TIMM8B_ENST00000541231.1_5'Flank	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	78					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Hexachlorophene(DB00756)|Succinic acid(DB00139)	TTTGCTCCTGGGTCTGCTTCC	0.498			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																														yes	Rec		Familial paraganglioma	11	11q23	6392	"""succinate dehydrogenase complex, subunit D, integral membrane protein"""		O	0													79.0	77.0	78.0					11																	111959653		2201	4294	6495	SO:0001583	missense	0	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	AB006202	CCDS31678.1, CCDS60958.1, CCDS60959.1, CCDS60960.1	11q23	2014-09-17				ENSG00000204370		"""Mitochondrial respiratory chain complex / Complex II"""	10683	protein-coding gene	gene with protein product		602690		PGL, PGL1		9533030, 1301144	Standard	NM_003002		Approved		uc001pmz.4	O14521		ENST00000375549.3:c.232G>T	11.37:g.111959653G>T	ENSP00000364699:p.Gly78Cys		A6ND90|B3KQQ8|E9PIC0|E9PIG3|E9PQI9|Q53XW5|Q6IRW2	Missense_Mutation	SNP	pfam_CybS	p.G78C	ENST00000375549.3	37	c.232	CCDS31678.1	11	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259716	0.80246	.	.	ENSG00000204370	ENST00000375549;ENST00000528182;ENST00000528021;ENST00000526592;ENST00000525291	D;D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08;-5.08	5.04	5.04	0.67666	.	0.115461	0.56097	D	0.000021	D	0.99217	0.9728	M	0.86420	2.815	0.48901	D	0.999729	D	0.89917	1.0	D	0.79108	0.992	D	0.99421	1.0933	10	0.72032	D	0.01	-13.7741	18.3751	0.90433	0.0:0.0:1.0:0.0	.	78	O14521	DHSD_HUMAN	C	78;78;78;78;39	ENSP00000364699:G78C;ENSP00000435475:G78C;ENSP00000432465:G78C;ENSP00000432005:G78C;ENSP00000436669:G39C	ENSP00000436395:G78C	G	+	1	0	SDHD	111464863	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.374000	0.79633	2.336000	0.79503	0.585000	0.79938	GGT	SDHD	-	pfam_CybS	ENSG00000204370		0.498	SDHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHD	HGNC	protein_coding	OTTHUMT00000392351.1	-	0.00	103	0	G	NM_003002		111959653	+1	tier1	-	no_errors	ENST00000375549	ensembl	human	known	74_37	missense	43.62	53	41	SNP	1.000	T
SEC14L2	23541	genome.wustl.edu	37	22	30812026	30812026	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:30812026C>T	ENST00000312932.9	+	10	1121	c.861C>T	c.(859-861)ggC>ggT	p.G287G	RP4-539M6.19_ENST00000439838.1_Silent_p.G121G|SEC14L2_ENST00000402592.3_Silent_p.G204G|SEC14L2_ENST00000403484.1_Silent_p.G213G|SEC14L2_ENST00000405717.3_Silent_p.G287G	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	287	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	TTTCCCGTGGCTCCTCCCACC	0.547																																																	0													98.0	90.0	93.0					22																	30812026		2203	4300	6503	SO:0001819	synonymous_variant	0			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"""supernatant protein factor"""	607558	"""SEC14 (S. cerevisiae)-like 2"""	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.861C>T	22.37:g.30812026C>T			B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.G287	ENST00000312932.9	37	c.861	CCDS13876.1	22																																																																																			SEC14L2	-	superfamily_GOLD,pfscan_GOLD	ENSG00000100003		0.547	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L2	HGNC	protein_coding	OTTHUMT00000321018.4	-	0.00	44	0	C	NM_012429		30812026	+1	tier1	-	no_errors	ENST00000312932	ensembl	human	known	74_37	silent	25.37	50	17	SNP	1.000	T
SEC22B	9554	genome.wustl.edu	37	1	145116324	145116327	+	RNA	DEL	TTTG	TTTG	-	rs199535908|rs201829862|rs57905231|rs558269907|rs66718856|rs67374323|rs1822848|rs71248028	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTG	TTTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:145116324_145116327delTTTG	ENST00000453618.1	+	0	1410_1413							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											tttttgtttttttgttttttttGA	0.324																																																	0																																												0			AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145116324_145116327delTTTG			A8K1G0	RNA	DEL	-	NULL	ENST00000453618.1	37	NULL		1																																																																																			SEC22B	-	-	ENSG00000223380		0.324	SEC22B-001	KNOWN	basic	processed_transcript	SEC22B	HGNC	processed_transcript	OTTHUMT00000038523.5		0.00	62	0	TTTG	NM_004892		145116327	+1	tier1		no_errors	ENST00000453618	ensembl	human	known	74_37	rna	6.48	101	7	DEL	0.005:0.004:0.005:0.005	-
SEC23IP	11196	genome.wustl.edu	37	10	121657803	121657804	+	Intron	INS	-	-	T	rs34504844|rs200091402|rs144326454	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:121657803_121657804insT	ENST00000369075.3	+	2	235				SEC23IP_ENST00000543134.1_Intron	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein						acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AGAAAAAACTGTTTTTTTCTGT	0.287																																																	0																																										SO:0001627	intron_variant	0			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.164-135->T	10.37:g.121657810_121657810dupT			D3DRD2|Q8IXH5|Q9BUK5	RNA	INS	-	NULL	ENST00000369075.3	37	NULL	CCDS7618.1	10																																																																																			SEC23IP	-	-	ENSG00000107651		0.287	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23IP	HGNC	protein_coding	OTTHUMT00000050688.1		0.00	19	0	-			121657804	+1	tier1		no_errors	ENST00000470478	ensembl	human	known	74_37	rna	84.21	3	16	INS	0.004:0.004	T
SEC24B	10427	genome.wustl.edu	37	4	110452575	110452575	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:110452575A>G	ENST00000265175.5	+	20	3342	c.3287A>G	c.(3286-3288)gAt>gGt	p.D1096G	SEC24B_ENST00000504968.2_Missense_Mutation_p.D1126G|SEC24B_ENST00000399100.2_Missense_Mutation_p.D1061G	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1096					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ACACGGCTGGATGATCGTGTA	0.348																																																	0													113.0	108.0	110.0					4																	110452575		1884	4128	6012	SO:0001583	missense	0			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3287A>G	4.37:g.110452575A>G	ENSP00000265175:p.Asp1096Gly		B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.D1096G	ENST00000265175.5	37	c.3287	CCDS47124.1	4	.	.	.	.	.	.	.	.	.	.	A	27.9	4.874285	0.91664	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	D;D;D	0.97752	-4.52;-4.52;-4.52	5.48	5.48	0.80851	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	D	0.99111	0.9694	H	0.95504	3.68	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.993;1.0;0.998;1.0;1.0	D	0.99293	1.0899	10	0.87932	D	0	-26.2417	15.5711	0.76337	1.0:0.0:0.0:0.0	.	1010;695;1126;1061;1096	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	G	1126;1061;1096	ENSP00000428564:D1126G;ENSP00000382051:D1061G;ENSP00000265175:D1096G	ENSP00000265175:D1096G	D	+	2	0	SEC24B	110672024	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.233000	0.95337	2.085000	0.62840	0.528000	0.53228	GAT	SEC24B	-	pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom	ENSG00000138802		0.348	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2	-	0.00	60	0	A			110452575	+1	tier1	-	no_errors	ENST00000265175	ensembl	human	known	74_37	missense	33.78	49	25	SNP	1.000	G
SEC24D	9871	genome.wustl.edu	37	4	119736808	119736808	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:119736808T>C	ENST00000280551.6	-	5	709	c.471A>G	c.(469-471)cgA>cgG	p.R157R	SEC24D_ENST00000379735.5_Silent_p.R157R|SEC24D_ENST00000419654.2_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	157	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GCTGTGGAGGTCGTGGAGGAG	0.572																																																	0													219.0	197.0	205.0					4																	119736808		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.471A>G	4.37:g.119736808T>C			Q8IYI7	Missense_Mutation	SNP	NULL	p.D193G	ENST00000280551.6	37	c.578	CCDS3710.1	4																																																																																			SEC24D	-	NULL	ENSG00000150961		0.572	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24D	HGNC	protein_coding	OTTHUMT00000256514.4	-	0.00	96	0	T			119736808	-1	tier1	-	no_errors	ENST00000506622	ensembl	human	known	74_37	missense	34.38	63	33	SNP	0.000	C
SEC63	11231	genome.wustl.edu	37	6	108277241	108277242	+	Intron	INS	-	-	G	rs532078606		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:108277241_108277242insG	ENST00000369002.4	-	1	304				SEC63_ENST00000460009.1_5'UTR|RP1-191J18.66_ENST00000606070.1_RNA	NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)						liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		gccagctactcggggggctgaa	0.411																																																	0																																										SO:0001627	intron_variant	0			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.124+1847->C	6.37:g.108277247_108277247dupG			O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Frame_Shift_Ins	INS	NULL	p.R65fs	ENST00000369002.4	37	c.194_193	CCDS5061.1	6																																																																																			SEC63	-	NULL	ENSG00000025796		0.411	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	HGNC	protein_coding	OTTHUMT00000041705.4		0.00	48	0	-	NM_007214		108277242	-1	tier1		no_errors	ENST00000446496	ensembl	human	known	74_37	frame_shift_ins	30.51	41	18	INS	0.000:0.000	G
SECISBP2	79048	genome.wustl.edu	37	9	91972418	91972418	+	Missense_Mutation	SNP	C	C	T	rs554473793		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:91972418C>T	ENST00000375807.3	+	15	2277	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	SECISBP2_ENST00000339901.4_Missense_Mutation_p.R663C|SECISBP2_ENST00000534113.2_Missense_Mutation_p.R668C	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	736					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGCTCTGGGGCGCAGTTTGAA	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20805	0.0		0.0	False		,,,				2504	0.0																0													200.0	187.0	191.0					9																	91972418		2203	4300	6503	SO:0001583	missense	0			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2206C>T	9.37:g.91972418C>T	ENSP00000364965:p.Arg736Cys		F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.R736C	ENST00000375807.3	37	c.2206	CCDS6683.1	9	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991652	0.93106	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.59906	0.23;0.23;0.23	4.68	4.68	0.58851	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.056493	0.64402	D	0.000001	T	0.77948	0.4207	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.81531	-0.0890	10	0.87932	D	0	-12.9178	18.1344	0.89614	0.0:1.0:0.0:0.0	.	743;663;736	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	C	736;742;663;668	ENSP00000364965:R736C;ENSP00000364959:R663C;ENSP00000436650:R668C	ENSP00000364959:R663C	R	+	1	0	SECISBP2	91162238	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.705000	0.61838	2.583000	0.87209	0.555000	0.69702	CGC	SECISBP2	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	ENSG00000187742		0.527	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SECISBP2	HGNC	protein_coding	OTTHUMT00000052990.3		0.00	29	0	C	NM_024077		91972418	+1			no_errors	ENST00000375807	ensembl	human	known	74_37	missense	12.50	14	2	SNP	1.000	T
SEL1L	6400	genome.wustl.edu	37	14	81945992	81945992	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:81945992G>A	ENST00000336735.4	-	20	2255	c.2139C>T	c.(2137-2139)ggC>ggT	p.G713G		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	713	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.G713G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		AATAGACGACGCCCAATTTGC	0.433																																																	1	Substitution - coding silent(1)	endometrium(1)											96.0	94.0	95.0					14																	81945992		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.2139C>T	14.37:g.81945992G>A			Q6UWT6|Q9P1T9|Q9UHK7	Silent	SNP	pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd	p.G713	ENST00000336735.4	37	c.2139	CCDS9876.1	14	.	.	.	.	.	.	.	.	.	.	G	8.619	0.890896	0.17613	.	.	ENSG00000071537	ENST00000261258	.	.	.	6.04	-4.5	0.03493	.	.	.	.	.	T	0.45597	0.1350	.	.	.	0.41286	D	0.986945	.	.	.	.	.	.	T	0.56667	-0.7941	5	0.87932	D	0	.	0.4305	0.00470	0.2849:0.2845:0.1459:0.2846	.	.	.	.	C	74	.	ENSP00000261258:R74C	R	-	1	0	SEL1L	81015745	0.000000	0.05858	0.012000	0.15200	0.905000	0.53344	-0.696000	0.05104	-0.372000	0.07992	0.563000	0.77884	CGT	SEL1L	-	NULL	ENSG00000071537		0.433	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L	HGNC	protein_coding	OTTHUMT00000413325.1	-	0.00	63	0	G	NM_005065		81945992	-1	tier1	-	no_errors	ENST00000336735	ensembl	human	known	74_37	silent	45.45	30	25	SNP	0.000	A
SEL1L2	80343	genome.wustl.edu	37	20	13894524	13894524	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:13894524G>A	ENST00000284951.5	-	5	527	c.453C>T	c.(451-453)gaC>gaT	p.D151D	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.D151D			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	151						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATAGCAAAGCGTCAGCCATTT	0.383																																																	0													86.0	79.0	81.0					20																	13894524		1818	4082	5900	SO:0001819	synonymous_variant	0			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.453C>T	20.37:g.13894524G>A			B4DXX5	Silent	SNP	pfam_Sel1-like,smart_Sel1-like	p.D151	ENST00000284951.5	37	c.453		20																																																																																			SEL1L2	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000101251		0.383	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	HGNC	protein_coding	OTTHUMT00000078067.3	-	0.00	30	0	G	NM_025229		13894524	-1	tier1	-	no_errors	ENST00000284951	ensembl	human	known	74_37	silent	33.33	22	11	SNP	0.999	A
SEL1L3	23231	genome.wustl.edu	37	4	25780793	25780793	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:25780793C>T	ENST00000399878.3	-	16	2612	c.2490G>A	c.(2488-2490)gcG>gcA	p.A830A	SEL1L3_ENST00000264868.5_Silent_p.A795A|SEL1L3_ENST00000502949.1_Silent_p.A677A	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	830						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GTCCACCTTGCGCAGCCTTAT	0.473																																																	0													144.0	132.0	135.0					4																	25780793		1953	4148	6101	SO:0001819	synonymous_variant	0			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2490G>A	4.37:g.25780793C>T			A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.A830	ENST00000399878.3	37	c.2490	CCDS47037.1	4																																																																																			SEL1L3	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000091490		0.473	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	-	0.00	56	0	C	NM_015187		25780793	-1	tier1	-	no_errors	ENST00000399878	ensembl	human	known	74_37	silent	45.28	29	24	SNP	0.195	T
SEMA3D	223117	genome.wustl.edu	37	7	84628713	84628713	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:84628713delT	ENST00000284136.6	-	0	2420				SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D						cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GAAGGCAATGTTTTTATAGGT	0.358																																					Ovarian(63;442 1191 17318 29975 31528)												0													49.0	44.0	46.0					7																	84628713		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.*43A>-	7.37:g.84628713delT			A6NK46|Q6UW77|Q8NCQ1	RNA	DEL	-	NULL	ENST00000284136.6	37	NULL	CCDS34676.1	7																																																																																			SEMA3D	-	-	ENSG00000153993		0.358	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2		0.00	32	0	T	NM_152754		84628713	-1	tier1		no_errors	ENST00000484038	ensembl	human	known	74_37	rna	40.62	19	13	DEL	0.017	-
SEMA3G	56920	genome.wustl.edu	37	3	52474799	52474799	+	Silent	SNP	G	G	A	rs377115739		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:52474799G>A	ENST00000231721.2	-	9	968	c.969C>T	c.(967-969)ctC>ctT	p.L323L		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	323	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.L323L(1)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CGTACACCTCGAGGCTCTTCC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		21730	0.0		0.0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	lung(1)						G		0,4406		0,0,2203	65.0	61.0	62.0		969	-9.0	0.0	3		62	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SEMA3G	NM_020163.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		323/783	52474799	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.969C>T	3.37:g.52474799G>A			Q7L9D9|Q9H7Q3	Silent	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom	p.L323	ENST00000231721.2	37	c.969	CCDS2856.1	3																																																																																			SEMA3G	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000010319		0.617	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3G	HGNC	protein_coding	OTTHUMT00000351354.1	-	0.00	28	0	G	NM_020163		52474799	-1	tier1	-	no_errors	ENST00000231721	ensembl	human	known	74_37	silent	48.15	14	13	SNP	0.004	A
SEMG2	6407	genome.wustl.edu	37	20	43851942	43851942	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:43851942G>T	ENST00000372769.3	+	2	1759	c.1669G>T	c.(1669-1671)Gta>Tta	p.V557L		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	557	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.V557L(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ACATAATATTGTAATTACTGA	0.383																																																	1	Substitution - Missense(1)	autonomic_ganglia(1)											92.0	79.0	83.0					20																	43851942		2203	4300	6503	SO:0001583	missense	0				CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1669G>T	20.37:g.43851942G>T	ENSP00000361855:p.Val557Leu		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	pfam_Semenogelin	p.V557L	ENST00000372769.3	37	c.1669	CCDS13346.1	20	.	.	.	.	.	.	.	.	.	.	G	7.399	0.632386	0.14322	.	.	ENSG00000124157	ENST00000372769	T	0.12039	2.72	0.751	-1.5	0.08691	.	.	.	.	.	T	0.27594	0.0678	M	0.69823	2.125	0.09310	N	1	P;D	0.63046	0.92;0.992	D;D	0.74348	0.935;0.983	T	0.11275	-1.0594	8	0.36615	T	0.2	.	.	.	.	.	557;557	A8K6Z6;Q02383	.;SEMG2_HUMAN	L	557	ENSP00000361855:V557L	ENSP00000361855:V557L	V	+	1	0	SEMG2	43285356	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.140000	0.10342	-0.716000	0.04962	-0.258000	0.10820	GTA	SEMG2	-	pfam_Semenogelin	ENSG00000124157		0.383	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMG2	HGNC	protein_coding	OTTHUMT00000079417.1		0.00	25	0	G	NM_003008		43851942	+1			no_errors	ENST00000372769	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.000	T
SENP1	29843	genome.wustl.edu	37	12	48458896	48458897	+	Frame_Shift_Del	DEL	TT	TT	-	rs192825742	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:48458896_48458897delTT	ENST00000004980.5	-	12	1704_1705	c.1226_1227delAA	c.(1225-1227)aaafs	p.K409fs	SENP1_ENST00000549518.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000448372.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000551330.1_Frame_Shift_Del_p.K409fs|SENP1_ENST00000549595.1_Frame_Shift_Del_p.K409fs			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	409					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)	p.G410fs*3(1)|p.G410fs*4(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				ATTTATGACCTTTTTTTTGTGT	0.342																																																	2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	large_intestine(1)|pancreas(1)																																								SO:0001589	frameshift_variant	0			AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.1226_1227delAA	12.37:g.48458902_48458903delTT	ENSP00000004980:p.Lys409fs		A8K7P5|Q86XC8	Frame_Shift_Del	DEL	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.K409fs	ENST00000004980.5	37	c.1227_1226	CCDS44868.2	12																																																																																			SENP1	-	NULL	ENSG00000079387		0.342	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP1	HGNC	protein_coding	OTTHUMT00000406471.1		0.00	52	0	TT	NM_014554		48458897	-1	tier1		no_errors	ENST00000004980	ensembl	human	known	74_37	frame_shift_del	32.76	39	19	DEL	0.206:0.381	-
SENP5	205564	genome.wustl.edu	37	3	196613470	196613470	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:196613470G>T	ENST00000323460.5	+	2	1667	c.1418G>T	c.(1417-1419)tGc>tTc	p.C473F	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.C473F	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	473					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CCCTTGGTGTGCAGTGGACTC	0.478																																					Ovarian(47;891 1095 11174 13858 51271)												0													74.0	74.0	74.0					3																	196613470		2203	4300	6503	SO:0001583	missense	0			BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1418G>T	3.37:g.196613470G>T	ENSP00000327197:p.Cys473Phe		B4DY82|Q96SA5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.C473F	ENST00000323460.5	37	c.1418	CCDS3322.1	3	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554126	0.27739	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.23147	2.26;1.92	5.4	3.51	0.40186	.	0.573269	0.18286	N	0.145892	T	0.16471	0.0396	N	0.24115	0.695	0.43313	D	0.995324	D;D	0.57899	0.968;0.981	B;B	0.42062	0.374;0.374	T	0.02654	-1.1128	10	0.33940	T	0.23	-0.0667	9.9845	0.41832	0.0809:0.1394:0.7797:0.0	.	473;473	B4DY82;Q96HI0	.;SENP5_HUMAN	F	473	ENSP00000327197:C473F;ENSP00000390231:C473F	ENSP00000327197:C473F	C	+	2	0	SENP5	198097867	0.994000	0.37717	0.948000	0.38648	0.889000	0.51656	1.628000	0.37060	1.411000	0.46957	0.655000	0.94253	TGC	SENP5	-	NULL	ENSG00000119231		0.478	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP5	HGNC	protein_coding	OTTHUMT00000340524.1	-	0.00	42	0	G	NM_152699		196613470	+1	tier1	-	no_errors	ENST00000323460	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.637	T
SEPHS2	22928	genome.wustl.edu	37	16	30455931	30455931	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:30455931C>T	ENST00000478753.2	-	1	1571	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	SEPHS2_ENST00000542752.1_Missense_Mutation_p.G316E|SEPHS2_ENST00000500504.2_Missense_Mutation_p.G373E			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	373					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AATCAGTAATCCCCCAGAGGT	0.498																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)												0													74.0	74.0	74.0					16																	30455931		1876	4104	5980	SO:0001583	missense	0			BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1118G>A	16.37:g.30455931C>T	ENSP00000418669:p.Gly373Glu		Q9BUQ2	Missense_Mutation	SNP	pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.G316E	ENST00000478753.2	37	c.947		16	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903855	0.72754	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.54071	0.59;0.59;0.59	5.15	5.15	0.70609	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.81800	0.4899	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87774	0.2607	10	0.87932	D	0	-7.7189	14.4904	0.67647	0.0:1.0:0.0:0.0	.	373;316	Q99611;F5H8F9	SPS2_HUMAN;.	E	373;316;324;373	ENSP00000418669:G373E;ENSP00000443601:G316E;ENSP00000426234:G373E	ENSP00000390233:G324E	G	-	2	0	SEPHS2	30363432	0.864000	0.29904	0.925000	0.36789	0.775000	0.43874	1.563000	0.36364	2.583000	0.87209	0.561000	0.74099	GGA	SEPHS2	-	pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD	ENSG00000179918		0.498	SEPHS2-001	KNOWN	basic|seleno	protein_coding	SEPHS2	HGNC	protein_coding	OTTHUMT00000109640.11	-	0.00	44	0	C	NM_012248		30455931	-1	tier1	-	no_errors	ENST00000542752	ensembl	human	known	74_37	missense	46.43	30	26	SNP	1.000	T
SEPT10	151011	genome.wustl.edu	37	2	110301828	110301828	+	3'UTR	DEL	T	T	-	rs562796959	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:110301828delT	ENST00000397712.2	-	0	1801				SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000437928.1_3'UTR|SEPT10_ENST00000356688.4_Frame_Shift_Del_p.K502fs|SEPT10_ENST00000468616.1_5'Flank|SEPT10_ENST00000397714.2_3'UTR	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						ACACTTCTAGTTTTTTTTTAA	0.318																																																	0													67.0	61.0	63.0					2																	110301828		692	1588	2280	SO:0001624	3_prime_UTR_variant	0			AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.*58A>-	2.37:g.110301828delT			B3KRQ9|Q86VP5|Q9HAH6	Frame_Shift_Del	DEL	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase	p.K502fs	ENST00000397712.2	37	c.1506	CCDS46383.1	2																																																																																			SEPT10	-	NULL	ENSG00000186522		0.318	SEPT10-001	KNOWN	basic|CCDS	protein_coding	SEPT10	HGNC	protein_coding	OTTHUMT00000337804.1		0.00	49	0	T	NM_144710		110301828	-1	tier1		no_errors	ENST00000356688	ensembl	human	putative	74_37	frame_shift_del	34.48	38	20	DEL	0.004	-
SEPT11	55752	genome.wustl.edu	37	4	77936159	77936159	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:77936159G>A	ENST00000264893.6	+	5	877	c.676G>A	c.(676-678)Gca>Aca	p.A226T	SEPT11_ENST00000510515.1_Missense_Mutation_p.A236T|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000505788.1_Missense_Mutation_p.A226T|SEPT11_ENST00000502584.1_Missense_Mutation_p.A226T|SEPT11_ENST00000541121.1_Missense_Mutation_p.A236T	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	226	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)|protein heterooligomerization (GO:0051291)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|septin complex (GO:0031105)|stress fiber (GO:0001725)|synapse (GO:0045202)	GTP binding (GO:0005525)	p.A226T(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						AGAGATTAACGCAACAATGAG	0.438																																																	1	Substitution - Missense(1)	large_intestine(1)											127.0	115.0	119.0					4																	77936159		2203	4300	6503	SO:0001583	missense	0			AK001711	CCDS34018.1	4q21.1	2013-01-21			ENSG00000138758	ENSG00000138758		"""Septins"""	25589	protein-coding gene	gene with protein product		612887				14999297, 15140406	Standard	NM_018243		Approved	FLJ10849	uc003hkj.3	Q9NVA2	OTTHUMG00000160854	ENST00000264893.6:c.676G>A	4.37:g.77936159G>A	ENSP00000264893:p.Ala226Thr		B7Z7Z6|E9KL32|Q4W5G1|Q7L4N1|Q96SP1|Q9UFY9	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	p.A236T	ENST00000264893.6	37	c.706	CCDS34018.1	4	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846765	0.32606	.	.	ENSG00000138758	ENST00000264893;ENST00000502584;ENST00000510641;ENST00000505788;ENST00000510515;ENST00000541121	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000001	T	0.36110	0.0955	N	0.17901	0.54	0.47994	D	0.999564	B;B;B	0.27316	0.145;0.015;0.175	B;B;B	0.21708	0.021;0.013;0.036	T	0.09015	-1.0694	10	0.25106	T	0.35	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	236;218;226	Q9NVA2-2;D6RDU5;Q9NVA2	.;.;SEP11_HUMAN	T	226;226;218;226;236;236	ENSP00000264893:A226T;ENSP00000426344:A226T;ENSP00000420839:A218T;ENSP00000424925:A226T;ENSP00000422896:A236T;ENSP00000443701:A236T	ENSP00000264893:A226T	A	+	1	0	SEPT11	78155183	1.000000	0.71417	0.381000	0.26106	0.006000	0.05464	4.064000	0.57506	2.687000	0.91594	0.655000	0.94253	GCA	SEPT11	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000138758		0.438	SEPT11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEPT11	HGNC	protein_coding	OTTHUMT00000362676.1	-	0.00	61	0	G	NM_018243		77936159	+1	tier1	-	no_errors	ENST00000541121	ensembl	human	known	74_37	missense	30.99	49	22	SNP	0.969	A
SEPT5	5413	genome.wustl.edu	37	22	19707861	19707861	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:19707861C>T	ENST00000455784.2	+	6	506	c.381C>T	c.(379-381)gaC>gaT	p.D127D	SEPT5_ENST00000406395.1_Silent_p.D127D|SEPT5_ENST00000438754.2_Silent_p.D136D|SEPT5_ENST00000383045.3_Silent_p.D136D|GP1BB_ENST00000366425.3_5'Flank	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	127	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CCATCACCGACTATGTGGACC	0.582																																																	0													122.0	107.0	112.0					22																	19707861		2203	4300	6503	SO:0001819	synonymous_variant	0			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.381C>T	22.37:g.19707861C>T			O15251|Q96MY5	Silent	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin	p.D136	ENST00000455784.2	37	c.408	CCDS13764.1	22																																																																																			SEPT5	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000184702		0.582	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT5	HGNC	protein_coding	OTTHUMT00000317937.1	-	0.00	96	0	C	NM_002688		19707861	+1	tier1	-	no_errors	ENST00000383045	ensembl	human	known	74_37	silent	30.30	46	20	SNP	1.000	T
SERPINB2	5055	genome.wustl.edu	37	18	61565041	61565041	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:61565041delA	ENST00000299502.4	+	5	578	c.498delA	c.(496-498)agafs	p.R166fs	SERPINB2_ENST00000457692.1_Frame_Shift_Del_p.R166fs|SERPINB2_ENST00000482254.1_3'UTR	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	166					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	AAGAAGCTAGAAAAAAGATTA	0.343																																																	0													56.0	59.0	58.0					18																	61565041		2203	4300	6503	SO:0001589	frameshift_variant	0			Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.498delA	18.37:g.61565041delA	ENSP00000299502:p.Arg166fs		Q96E96	Frame_Shift_Del	DEL	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.K168fs	ENST00000299502.4	37	c.498	CCDS11989.1	18																																																																																			SERPINB2	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000197632		0.343	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB2	HGNC	protein_coding	OTTHUMT00000134009.1		0.00	54	0	A	NM_002575		61565041	+1	tier1		no_errors	ENST00000299502	ensembl	human	known	74_37	frame_shift_del	29.82	40	17	DEL	0.999	-
SESTD1	91404	genome.wustl.edu	37	2	180016104	180016104	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:180016104G>A	ENST00000428443.3	-	6	700	c.384C>T	c.(382-384)tcC>tcT	p.S128S		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	128	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATTTGTTGGCGGACACTAAAA	0.348																																																	0													62.0	61.0	61.0					2																	180016104		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.384C>T	2.37:g.180016104G>A			Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Silent	SNP	superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.S128	ENST00000428443.3	37	c.384	CCDS33338.1	2																																																																																			SESTD1	-	superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000187231		0.348	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESTD1	HGNC	protein_coding	OTTHUMT00000335916.2	-	0.00	81	0	G	NM_178123		180016104	-1	tier1	-	no_errors	ENST00000428443	ensembl	human	known	74_37	silent	45.68	44	37	SNP	0.974	A
SETD1B	23067	genome.wustl.edu	37	12	122242658	122242658	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:122242658delC	ENST00000604567.1	+	2	83	c.15delC	c.(13-15)cacfs	p.H5fs	SETD1B_ENST00000267197.5_Frame_Shift_Del_p.H5fs|SETD1B_ENST00000542440.1_Frame_Shift_Del_p.H5fs|RP11-347I19.8_ENST00000609067.1_lincRNA|RHOF_ENST00000545544.1_5'Flank			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	5					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.H8fs*27(2)		NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						AGAACAGTCACCCCCCCCACC	0.632																																																	2	Deletion - Frameshift(2)	large_intestine(2)											37.0	44.0	42.0					12																	122242658		692	1591	2283	SO:0001589	frameshift_variant	0			AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.15delC	12.37:g.122242658delC	ENSP00000474253:p.His5fs		F6MFW1	Frame_Shift_Del	DEL	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.H8fs	ENST00000604567.1	37	c.15		12																																																																																			SETD1B	-	NULL	ENSG00000139718		0.632	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	SETD1B	HGNC	protein_coding	OTTHUMT00000468264.1		0.00	13	0	C	XM_037523		122242658	+1	tier1		no_errors	ENST00000267197	ensembl	human	known	74_37	frame_shift_del	41.38	17	12	DEL	1.000	-
SETD3	84193	genome.wustl.edu	37	14	99871696	99871696	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:99871696delA	ENST00000331768.5	-	10	1096	c.937delT	c.(937-939)tatfs	p.Y313fs		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	313	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CGAGTGCCATAAAAAATGTAA	0.398																																																	0													65.0	65.0	65.0					14																	99871696		2203	4300	6503	SO:0001589	frameshift_variant	0			AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.937delT	14.37:g.99871696delA	ENSP00000327436:p.Tyr313fs		A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Frame_Shift_Del	DEL	pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd	p.Y313fs	ENST00000331768.5	37	c.937	CCDS9951.1	14																																																																																			SETD3	-	pfam_SET_dom	ENSG00000183576		0.398	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD3	HGNC	protein_coding	OTTHUMT00000072339.3		0.00	42	0	A	NM_032233		99871696	-1	tier1		no_errors	ENST00000331768	ensembl	human	known	74_37	frame_shift_del	43.48	26	20	DEL	1.000	-
SETD8	387893	genome.wustl.edu	37	12	123892040	123892040	+	Splice_Site	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:123892040C>T	ENST00000402868.3	+	8	1275	c.849C>T	c.(847-849)tgC>tgT	p.C283C	SETD8_ENST00000330479.4_Splice_Site_p.C283C			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	324	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		TCCCCTCCAGCGTGGATGCAA	0.498																																																	0													70.0	56.0	60.0					12																	123892040		2203	4300	6503	SO:0001630	splice_region_variant	0			AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.849-1C>T	12.37:g.123892040C>T			A8K9D0|Q86W83|Q8TD09	Silent	SNP	pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom	p.C283	ENST00000402868.3	37	c.849	CCDS9247.1	12																																																																																			SETD8	-	pfam_SET_dom,smart_SET_dom,pirsf_Hist_H4-K20_MeTrfase,pfscan_SET_dom	ENSG00000183955		0.498	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD8	HGNC	protein_coding	OTTHUMT00000318263.1	-	0.00	141	0	C	NM_020382	Silent	123892040	+1	tier1	-	no_errors	ENST00000330479	ensembl	human	known	74_37	silent	47.88	86	79	SNP	0.988	T
SETX	23064	genome.wustl.edu	37	9	135158548	135158550	+	Intron	DEL	AAA	AAA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:135158548_135158550delAAA	ENST00000224140.5	-	19	6729				SETX_ENST00000372169.2_Intron|SETX_ENST00000393220.1_Intron	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin						cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATCAGATGCAAAAAAAAAAAAC	0.379																																																	0																																										SO:0001627	intron_variant	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6546+100TTT>-	9.37:g.135158557_135158559delAAA			A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	RNA	DEL	-	NULL	ENST00000224140.5	37	NULL	CCDS6947.1	9																																																																																			SETX	-	-	ENSG00000107290		0.379	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3		0.00	41	0	AAA	NM_015046		135158550	-1	tier1		no_errors	ENST00000474172	ensembl	human	known	74_37	rna	46.67	16	14	DEL	0.010:0.003:0.000	-
SEZ6L	23544	genome.wustl.edu	37	22	26692908	26692908	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:26692908G>T	ENST00000248933.6	+	4	1119	c.1024G>T	c.(1024-1026)Ggc>Tgc	p.G342C	SEZ6L_ENST00000404234.3_Missense_Mutation_p.G342C|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G115C|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G342C|SEZ6L_ENST00000529632.2_Missense_Mutation_p.G342C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G342C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G115C			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	342	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CGGGGTGGACGGCCCTACCCT	0.592																																																	0													62.0	47.0	52.0					22																	26692908		2203	4300	6503	SO:0001583	missense	0			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1024G>T	22.37:g.26692908G>T	ENSP00000248933:p.Gly342Cys		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.G342C	ENST00000248933.6	37	c.1024	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991587	0.54041	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.13	5.13	0.70059	CUB (5);	0.225703	0.30210	N	0.010157	T	0.40473	0.1118	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.83275	0.986;0.983;0.95;0.992;0.996;0.983;0.983	T	0.22312	-1.0220	10	0.87932	D	0	.	17.5693	0.87930	0.0:0.0:1.0:0.0	.	342;342;115;342;342;342;342	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	C	342;342;342;342;342;115;115	ENSP00000384772:G342C;ENSP00000437037:G342C;ENSP00000354185:G342C;ENSP00000248933:G342C;ENSP00000342661:G342C;ENSP00000384838:G115C;ENSP00000384733:G115C	ENSP00000248933:G342C	G	+	1	0	SEZ6L	25022908	1.000000	0.71417	0.999000	0.59377	0.096000	0.18686	6.152000	0.71812	2.377000	0.81083	0.563000	0.77884	GGC	SEZ6L	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000100095		0.592	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3		0.00	48	0	G			26692908	+1			no_errors	ENST00000248933	ensembl	human	known	74_37	missense	9.52	38	4	SNP	1.000	T
SF3B2	10992	genome.wustl.edu	37	11	65836146	65836146	+	Splice_Site	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:65836146delA	ENST00000322535.6	+	22	2667	c.2618delA	c.(2617-2619)caa>ca	p.Q873fs	PACS1_ENST00000320580.4_5'Flank|SF3B2_ENST00000528302.1_Splice_Site_p.Q856fs|RP11-1167A19.2_ENST00000529036.1_Intron	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	873					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCTATACAGCAAAAAAAACGG	0.512											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													77.0	82.0	80.0					11																	65836146		2201	4295	6496	SO:0001630	splice_region_variant	0			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.2617-1A>-	11.37:g.65836146delA		1087	A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Frame_Shift_Del	DEL	pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom	p.K875fs	ENST00000322535.6	37	c.2618	CCDS31612.1	11																																																																																			SF3B2	-	NULL	ENSG00000087365		0.512	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2		0.00	44	0	A		Frame_Shift_Del	65836146	+1	tier1		no_errors	ENST00000322535	ensembl	human	known	74_37	frame_shift_del	32.61	31	15	DEL	1.000	-
SF3B4	10262	genome.wustl.edu	37	1	149895759	149895760	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:149895759_149895760insG	ENST00000271628.8	-	5	1644_1645	c.1060_1061insC	c.(1060-1062)cgafs	p.R354fs		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	354					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R354fs*>72(1)		endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TGGAGGCCCTCGGGGGGGCATG	0.624																																																	1	Insertion - Frameshift(1)	ovary(1)								15,4235		0,15,2110						5.0	1.0			16	15,8229		0,15,4107	no	frameshift	SF3B4	NM_005850.4		0,30,6217	A1A1,A1R,RR		0.182,0.3529,0.2401				30,12464				SO:0001589	frameshift_variant	0			L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"""RNA binding motif (RRM) containing"""	10771	protein-coding gene	gene with protein product		605593	"""splicing factor 3b, subunit 4, 49kD"""			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.1061dupC	1.37:g.149895766_149895766dupG	ENSP00000271628:p.Arg354fs		Q5SZ63	Frame_Shift_Ins	INS	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R354fs	ENST00000271628.8	37	c.1061_1060	CCDS941.1	1																																																																																			SF3B4	-	NULL	ENSG00000143368		0.624	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B4	HGNC	protein_coding	OTTHUMT00000033753.1		0.00	66	0	-	NM_005850		149895760	-1	tier1		no_errors	ENST00000271628	ensembl	human	known	74_37	frame_shift_ins	22.92	74	22	INS	1.000:0.998	G
SFI1	9814	genome.wustl.edu	37	22	31981087	31981087	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:31981087G>T	ENST00000400288.2	+	14	1485	c.1380G>T	c.(1378-1380)tgG>tgT	p.W460C	SFI1_ENST00000443326.1_Missense_Mutation_p.W378C|SFI1_ENST00000540643.1_Missense_Mutation_p.W405C|SFI1_ENST00000414585.1_Missense_Mutation_p.W307C|SFI1_ENST00000432498.1_Missense_Mutation_p.W429C|SFI1_ENST00000400289.1_Missense_Mutation_p.W378C|SFI1_ENST00000443011.1_Missense_Mutation_p.W307C	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	460					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TCGAATTGTGGCTACAGTATA	0.388																																																	0													103.0	96.0	98.0					22																	31981087		1850	4092	5942	SO:0001583	missense	0			AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.1380G>T	22.37:g.31981087G>T	ENSP00000383145:p.Trp460Cys		A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	superfamily_Cyclin-like	p.W460C	ENST00000400288.2	37	c.1380	CCDS43004.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.73|18.73	3.685391|3.685391	0.68157|0.68157	.|.	.|.	ENSG00000198089|ENSG00000198089	ENST00000425671|ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000400288;ENST00000417682	.|T;T;T;T;T;T;T;T	.|0.21932	.|2.54;2.46;2.34;2.44;2.59;2.34;2.59;1.98	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.133152	.|0.53938	.|D	.|0.000046	T|T	0.27697|0.27697	0.0681|0.0681	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;0.999;0.998;1.0;0.999;1.0	T|T	0.27806|0.27806	-1.0063|-1.0063	5|10	.|0.87932	.|D	.|0	.|.	15.2575|15.2575	0.73596|0.73596	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|405;378;378;429;460;436	.|A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.|.;.;.;.;SFI1_HUMAN;.	V|C	34|429;405;378;436;307;307;378;460;75	.|ENSP00000402679:W429C;ENSP00000443025:W405C;ENSP00000416469:W378C;ENSP00000397148:W307C;ENSP00000401199:W307C;ENSP00000383146:W378C;ENSP00000383145:W460C;ENSP00000398871:W75C	.|ENSP00000383145:W460C	G|W	+|+	2|3	0|0	SFI1|SFI1	30311087|30311087	1.000000|1.000000	0.71417|0.71417	0.895000|0.895000	0.35142|0.35142	0.049000|0.049000	0.14656|0.14656	4.623000|4.623000	0.61247|0.61247	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GGC|TGG	SFI1	-	NULL	ENSG00000198089		0.388	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFI1	HGNC	protein_coding	OTTHUMT00000337180.3	-	0.00	100	0	G	NM_014775		31981087	+1	tier1	-	no_errors	ENST00000400288	ensembl	human	known	74_37	missense	5.71	99	6	SNP	0.979	T
SGIP1	84251	genome.wustl.edu	37	1	67099769	67099769	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:67099769delA	ENST00000371037.4	+	3	176				SGIP1_ENST00000237247.6_Frame_Shift_Del_p.K38fs|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000468286.1_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1						endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCAGCAGGGGAAAAAAAAGAC	0.428																																																	0										4,42,2184		0,0,4,14,14,1083	21.0	20.0	20.0			5.8	1.0	1		20	16,95,4525		1,0,14,32,31,2240	no	intron	SGIP1	NM_032291.2		1,0,18,46,45,3323	A1A1,A1A2,A1R,A2A2,A2R,RR		2.3943,2.0628,2.2866			67099769	20,137,6709	876	1991	2867	SO:0001627	intron_variant	0			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.99+992A>-	1.37:g.67099769delA			A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Frame_Shift_Del	DEL	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.K38fs	ENST00000371037.4	37	c.106	CCDS30744.1	1																																																																																			SGIP1	-	NULL	ENSG00000118473		0.428	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4		0.00	37	0	A	NM_032291		67099769	+1	tier1		no_errors	ENST00000237247	ensembl	human	known	74_37	frame_shift_del	31.71	28	13	DEL	0.997	-
SGOL1	151648	genome.wustl.edu	37	3	20212755	20212756	+	Intron	DEL	AA	AA	-	rs202135893|rs369158870	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:20212755_20212756delAA	ENST00000263753.4	-	7	1422				SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000412868.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000421451.1_Intron|SGOL1_ENST00000460637.1_5'UTR|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000412997.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000442720.1_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)						attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						AATATGATTTAAAAAAAAAAAC	0.312																																																	0									,,,,,,,,,,,,	48,30,555,3627		0,0,1,47,0,2,28,16,520,1516					,,,,,,,,,,,,	0.6	0.0			30	62,40,1128,7018		0,0,2,60,0,3,37,17,1089,2916	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron	SGOL1	NM_138484.3,NM_001199257.1,NM_001199256.1,NM_001199255.1,NM_001199254.1,NM_001199253.1,NM_001199252.1,NM_001199251.1,NM_001012413.2,NM_001012412.3,NM_001012411.2,NM_001012410.3,NM_001012409.2	,,,,,,,,,,,,	0,0,3,107,0,5,65,33,1609,4432	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		14.9127,14.8592,14.8945	,,,,,,,,,,,,	,,,,,,,,,,,,		110,70,1683,10645				SO:0001627	intron_variant	0			BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.1283-31TT>-	3.37:g.20212763_20212764delAA			Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	RNA	DEL	-	NULL	ENST00000263753.4	37	NULL	CCDS33716.1	3																																																																																			SGOL1	-	-	ENSG00000129810		0.312	SGOL1-009	KNOWN	basic|CCDS	protein_coding	SGOL1	HGNC	protein_coding	OTTHUMT00000340498.1		0.00	18	0	AA	NM_138484		20212756	-1	tier1		no_errors	ENST00000460637	ensembl	human	putative	74_37	rna	40.00	9	6	DEL	0.000:0.000	-
SH2D4B	387694	genome.wustl.edu	37	10	82331259	82331259	+	Silent	SNP	G	G	A	rs151180626		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:82331259G>A	ENST00000470604.2	+	3	417	c.417G>A	c.(415-417)gcG>gcA	p.A139A	SH2D4B_ENST00000313455.4_Silent_p.A91A|SH2D4B_ENST00000339284.2_Silent_p.A140A			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	139	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GGATCTTGGCGGAGAAGTGGA	0.572																																																	0								G	,	1,4405	2.1+/-5.4	0,1,2202	77.0	72.0	73.0		273,420	-11.1	0.1	10	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SH2D4B	NM_001145719.1,NM_207372.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	91/310,140/358	82331259	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.417G>A	10.37:g.82331259G>A			Q5SQS5|Q6ZVW9|Q6ZVZ3	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.A139	ENST00000470604.2	37	c.417		10																																																																																			SH2D4B	-	NULL	ENSG00000178217		0.572	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	SH2D4B	HGNC	protein_coding		-	0.00	33	0	G	XM_351984		82331259	+1	tier1	rs151180626	no_errors	ENST00000470604	ensembl	human	known	74_37	silent	26.32	14	5	SNP	0.035	A
SH3BP1	23616	genome.wustl.edu	37	22	38046679	38046679	+	Silent	SNP	G	G	A	rs139958398	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:38046679G>A	ENST00000357436.4	+	16	1858	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Silent_p.P451P	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	515					signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					ctccggctccggctccagctc	0.637													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14443	0.0		0.0	False		,,,				2504	0.0																0								G		3,4403	6.2+/-15.9	0,3,2200	27.0	30.0	29.0		1545	-7.1	0.0	22	dbSNP_134	29	0,8600		0,0,4300	no	coding-synonymous	SH3BP1	NM_018957.3		0,3,6500	AA,AG,GG		0.0,0.0681,0.0231		515/702	38046679	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1545G>A	22.37:g.38046679G>A			Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Silent	SNP	pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.P515	ENST00000357436.4	37	c.1545	CCDS13952.2	22																																																																																			SH3BP1	-	NULL	ENSG00000100092		0.637	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP1	HGNC	protein_coding	OTTHUMT00000075884.4	-	0.00	93	0	G	NM_018957		38046679	+1	tier1	rs139958398	no_errors	ENST00000357436	ensembl	human	known	74_37	silent	32.47	52	25	SNP	0.000	A
SH3BP1	23616	genome.wustl.edu	37	22	38051313	38051314	+	Frame_Shift_Ins	INS	-	-	C	rs70950549		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:38051313_38051314insC	ENST00000357436.4	+	18	2041_2042	c.1728_1729insC	c.(1729-1731)cccfs	p.P577fs	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Intron	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	577					signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCACCATGCCGCCCCCCCAGGT	0.718																																																	0																																										SO:0001589	frameshift_variant	0				CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.1735dupC	22.37:g.38051320_38051320dupC	ENSP00000350018:p.Pro577fs		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Frame_Shift_Ins	INS	pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom	p.Q578fs	ENST00000357436.4	37	c.1728_1729	CCDS13952.2	22																																																																																			SH3BP1	-	NULL	ENSG00000100092		0.718	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP1	HGNC	protein_coding	OTTHUMT00000075884.4		0.00	18	0	0	NM_018957		38051314	+1			no_errors	ENST00000357436	ensembl	human	known	74_37	frame_shift_ins	28.57	10	4	INS	0.733:0.981	C
SH3D19	152503	genome.wustl.edu	37	4	152041916	152041916	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:152041916delA	ENST00000409252.2	-	0	4407				SH3D19_ENST00000424281.1_3'UTR|SH3D19_ENST00000514152.1_3'UTR|SH3D19_ENST00000455740.1_3'UTR|SH3D19_ENST00000409598.4_3'UTR|SH3D19_ENST00000304527.4_3'UTR			Q5HYK7	SH319_HUMAN	SH3 domain containing 19						cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGACAATGGGAAAAAAAAAAC	0.348																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.*1327T>-	4.37:g.152041916delA			B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	RNA	DEL	-	NULL	ENST00000409252.2	37	NULL	CCDS34077.2	4																																																																																			SH3D19	-	-	ENSG00000109686		0.348	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	SH3D19	HGNC	protein_coding	OTTHUMT00000335132.3		0.00	27	0	A	NM_001009555		152041916	-1	tier1		no_errors	ENST00000604922	ensembl	human	known	74_37	rna	41.18	10	7	DEL	0.004	-
SH3D19	152503	genome.wustl.edu	37	4	152043270	152043270	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:152043270G>T	ENST00000409252.2	-	20	3053	c.2346C>A	c.(2344-2346)aaC>aaA	p.N782K	SH3D19_ENST00000424281.1_Missense_Mutation_p.N723K|SH3D19_ENST00000514152.1_Missense_Mutation_p.N759K|SH3D19_ENST00000455740.1_Missense_Mutation_p.N759K|SH3D19_ENST00000427414.2_Missense_Mutation_p.N723K|SH3D19_ENST00000409598.4_Missense_Mutation_p.N759K|SH3D19_ENST00000304527.4_Missense_Mutation_p.N782K			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	782	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				ACTGTATGTAGTTTTTGGGAA	0.388																																																	0													135.0	132.0	133.0					4																	152043270		2203	4300	6503	SO:0001583	missense	0			BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.2346C>A	4.37:g.152043270G>T	ENSP00000386848:p.Asn782Lys		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.N782K	ENST00000409252.2	37	c.2346	CCDS34077.2	4	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050260	0.36181	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.44	3.71	0.42584	Src homology-3 domain (4);	1.044420	0.07544	N	0.914383	T	0.63663	0.2530	L	0.58428	1.81	0.58432	D	0.999993	P;D;P;P	0.55800	0.611;0.973;0.597;0.922	B;P;B;P	0.53861	0.221;0.736;0.444;0.548	T	0.53173	-0.8476	10	0.87932	D	0	-2.6029	11.2756	0.49165	0.0691:0.1273:0.8036:0.0	.	782;759;723;537	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	K	759;782;759;723;723;782;759	ENSP00000387030:N759K;ENSP00000302913:N782K;ENSP00000416708:N759K;ENSP00000404542:N723K;ENSP00000415694:N723K;ENSP00000386848:N782K;ENSP00000423449:N759K	ENSP00000302913:N782K	N	-	3	2	SH3D19	152262720	1.000000	0.71417	0.958000	0.39756	0.144000	0.21451	2.772000	0.47678	0.649000	0.30751	-0.216000	0.12614	AAC	SH3D19	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000109686		0.388	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	SH3D19	HGNC	protein_coding	OTTHUMT00000335132.3	-	0.00	65	0	G	NM_001009555		152043270	-1	tier1	-	no_errors	ENST00000304527	ensembl	human	known	74_37	missense	5.97	62	4	SNP	1.000	T
SH3GL3	6457	genome.wustl.edu	37	15	84237360	84237360	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:84237360G>A	ENST00000427482.2	+	4	573	c.267G>A	c.(265-267)acG>acA	p.T89T	SH3GL3_ENST00000434347.1_Silent_p.T97T|SH3GL3_ENST00000324537.5_Silent_p.T97T|SH3GL3_ENST00000535412.1_Silent_p.T89T	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	89	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						ACCCGCAGACGGAAGGCTTGC	0.507																																																	0													83.0	84.0	84.0					15																	84237360		2203	4300	6503	SO:0001819	synonymous_variant	0			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.267G>A	15.37:g.84237360G>A			O43553|O43554	Silent	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain	p.T97	ENST00000427482.2	37	c.291	CCDS10325.2	15																																																																																			SH3GL3	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom	ENSG00000140600		0.507	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL3	HGNC	protein_coding	OTTHUMT00000347797.1	-	0.00	32	0	G	NM_003027		84237360	+1	tier1	-	no_errors	ENST00000324537	ensembl	human	known	74_37	silent	42.86	20	15	SNP	0.006	A
SH3GL3	6457	genome.wustl.edu	37	15	84287070	84287070	+	3'UTR	SNP	G	G	A	rs113558690		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:84287070G>A	ENST00000427482.2	+	0	1381				SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000434347.1_3'UTR|SH3GL3_ENST00000324537.5_3'UTR|SH3GL3_ENST00000535412.1_3'UTR|AC087738.1_ENST00000411248.1_RNA	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3						central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						ACATACTTTCGTAACTGAAAT	0.418																																																	0													53.0	46.0	49.0					15																	84287070		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.*31G>A	15.37:g.84287070G>A			O43553|O43554	RNA	SNP	-	NULL	ENST00000427482.2	37	NULL	CCDS10325.2	15																																																																																			SH3GL3	-	-	ENSG00000140600		0.418	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GL3	HGNC	protein_coding	OTTHUMT00000347797.1	-	0.00	36	0	G	NM_003027		84287070	+1	tier1	rs113558690	no_errors	ENST00000564054	ensembl	human	known	74_37	rna	38.78	30	19	SNP	0.000	A
SHANK1	50944	genome.wustl.edu	37	19	51192559	51192559	+	Intron	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:51192559delG	ENST00000293441.1	-	15	1983				SHANK1_ENST00000359082.3_Intron|SHANK1_ENST00000391813.1_Frame_Shift_Del_p.H35fs|SHANK1_ENST00000391814.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1						adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAGGAGAAATGGGGGGGTGGT	0.587																																																	0													61.0	49.0	53.0					19																	51192559		2203	4300	6503	SO:0001627	intron_variant	0			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1965-23C>-	19.37:g.51192559delG			A8MXP5|B7WNY6|Q9NYW9	Frame_Shift_Del	DEL	pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.H35fs	ENST00000293441.1	37	c.103	CCDS12799.1	19																																																																																			SHANK1	-	NULL	ENSG00000161681		0.587	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1		0.00	52	0	G	NM_016148		51192559	-1	tier1		no_errors	ENST00000391813	ensembl	human	known	74_37	frame_shift_del	37.50	25	15	DEL	0.020	-
SHANK3	85358	genome.wustl.edu	37	22	51160845	51160845	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:51160845G>C	ENST00000414786.2	+	21	4769	c.4542G>C	c.(4540-4542)aaG>aaC	p.K1514N	SHANK3_ENST00000262795.3_Missense_Mutation_p.K1544N|SHANK3_ENST00000445220.2_Missense_Mutation_p.K1530N			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1528					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTGCCAAGAAGTCGCCCATCG	0.652																																																	0													22.0	25.0	24.0					22																	51160845		1934	3794	5728	SO:0001583	missense	0			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.4542G>C	22.37:g.51160845G>C	ENSP00000464552:p.Lys1514Asn		D7UT47|Q8TET3	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.K1544N	ENST00000414786.2	37	c.4632		22	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347090	0.41599	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.49139	0.79;0.79	5.7	4.67	0.58626	.	0.296512	0.32503	N	0.006018	T	0.56673	0.2001	L	0.51914	1.62	0.25423	N	0.988251	D;D;D	0.76494	0.999;0.991;0.997	D;P;P	0.64144	0.922;0.831;0.879	T	0.49744	-0.8907	10	0.56958	D	0.05	.	9.3249	0.37986	0.1638:0.0:0.8362:0.0	.	1528;1529;1544	D7UT47;Q9BYB0;F2Z3L0	.;SHAN3_HUMAN;.	N	1544;1530	ENSP00000442518:K1544N;ENSP00000446078:K1530N	ENSP00000442518:K1544N	K	+	3	2	SHANK3	49507711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.161000	0.50747	2.702000	0.92279	0.563000	0.77884	AAG	SHANK3	-	NULL	ENSG00000251322		0.652	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	HGNC	protein_coding	OTTHUMT00000316674.2	-	0.00	10	0	G	NM_001080420		51160845	+1	tier1	-	no_errors	ENST00000262795	ensembl	human	known	74_37	missense	54.55	5	6	SNP	1.000	C
SHC1	6464	genome.wustl.edu	37	1	154935863	154935863	+	3'UTR	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:154935863delG	ENST00000368445.5	-	0	2382				RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000368457.2_5'Flank|SHC1_ENST00000448116.2_3'UTR|PYGO2_ENST00000368456.1_5'Flank|SHC1_ENST00000368450.1_3'UTR|SHC1_ENST00000368453.4_3'UTR|SHC1_ENST00000368449.4_3'UTR|SHC1_ENST00000490667.1_5'UTR|PYGO2_ENST00000483463.1_Intron|SHC1_ENST00000606391.1_3'UTR	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1						actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTTTAAACATGGGGGGGGCGG	0.507																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)												0																																										SO:0001624	3_prime_UTR_variant	0			U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.*416C>-	1.37:g.154935863delG			B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	RNA	DEL	-	NULL	ENST00000368445.5	37	NULL	CCDS30881.1	1																																																																																			SHC1	-	-	ENSG00000160691		0.507	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHC1	HGNC	protein_coding	OTTHUMT00000090781.2		0.00	41	0	G	NM_183001		154935863	-1	tier1		no_errors	ENST00000490667	ensembl	human	known	74_37	rna	22.50	31	9	DEL	0.000	-
SHC4	399694	genome.wustl.edu	37	15	49254776	49254776	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:49254776G>A	ENST00000332408.4	-	1	865	c.437C>T	c.(436-438)cCg>cTg	p.P146L		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	146	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GTCCTGCTGCGGTGGAGGTGC	0.647																																																	0													74.0	66.0	69.0					15																	49254776		2197	4295	6492	SO:0001583	missense	0			AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.437C>T	15.37:g.49254776G>A	ENSP00000329668:p.Pro146Leu		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2	p.P146L	ENST00000332408.4	37	c.437	CCDS10130.1	15	.	.	.	.	.	.	.	.	.	.	G	6.265	0.417044	0.11870	.	.	ENSG00000185634	ENST00000332408	T	0.04706	3.57	4.67	1.7	0.24286	.	0.328452	0.25845	N	0.027932	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.08055	0.003	T	0.44314	-0.9336	10	0.35671	T	0.21	-16.8975	4.9849	0.14185	0.1559:0.0:0.5457:0.2984	.	146	Q6S5L8	SHC4_HUMAN	L	146	ENSP00000329668:P146L	ENSP00000329668:P146L	P	-	2	0	SHC4	47042068	0.008000	0.16893	0.000000	0.03702	0.027000	0.11550	0.315000	0.19451	0.188000	0.20168	-0.895000	0.02911	CCG	SHC4	-	NULL	ENSG00000185634		0.647	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC4	HGNC	protein_coding	OTTHUMT00000254371.1	-	0.00	55	0	G	NM_203349		49254776	-1	tier1	-	no_errors	ENST00000332408	ensembl	human	known	74_37	missense	43.08	37	28	SNP	0.002	A
SHE	126669	genome.wustl.edu	37	1	154474190	154474190	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:154474190G>A	ENST00000304760.2	-	1	399	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	TDRD10_ENST00000368482.4_5'Flank|TDRD10_ENST00000368480.3_5'Flank	NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	105										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGGCTGTCGCGGGACAGCCGG	0.746																																																	0													8.0	9.0	9.0					1																	154474190		2153	4224	6377	SO:0001583	missense	0			AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"""SH2 domain containing"""	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.313C>T	1.37:g.154474190G>A	ENSP00000307369:p.Arg105Cys		Q8TEQ5	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.R105C	ENST00000304760.2	37	c.313	CCDS30877.1	1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433460	0.83776	.	.	ENSG00000169291	ENST00000304760	T	0.32988	1.43	4.48	4.48	0.54585	.	0.492803	0.18810	N	0.130546	T	0.20455	0.0492	N	0.24115	0.695	0.44762	D	0.997762	D	0.76494	0.999	P	0.50490	0.642	T	0.03898	-1.0994	10	0.72032	D	0.01	-32.9285	14.7045	0.69179	0.0:0.0:1.0:0.0	.	105	Q5VZ18	SHE_HUMAN	C	105	ENSP00000307369:R105C	ENSP00000307369:R105C	R	-	1	0	SHE	152740814	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	2.642000	0.46596	2.314000	0.78098	0.556000	0.70494	CGC	SHE	-	NULL	ENSG00000169291		0.746	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHE	HGNC	protein_coding	OTTHUMT00000087910.2		0.00	13	0	G	NM_001010846		154474190	-1			no_errors	ENST00000304760	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	A
SHROOM2	357	genome.wustl.edu	37	X	9863381	9863381	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:9863381G>A	ENST00000380913.3	+	4	1523	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	478					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CAGGGTCCCCGGCCCTGTGTG	0.677																																																	0													15.0	16.0	15.0					X																	9863381		2195	4288	6483	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.1433G>A	X.37:g.9863381G>A	ENSP00000370299:p.Arg478Gln		B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R478Q	ENST00000380913.3	37	c.1433	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250778	0.22880	.	.	ENSG00000146950	ENST00000380913	T	0.14893	2.47	4.47	-1.32	0.09201	.	0.714746	0.11837	N	0.524634	T	0.08537	0.0212	L	0.42245	1.32	0.09310	N	1	P	0.37158	0.585	B	0.24541	0.054	T	0.23084	-1.0198	10	0.33141	T	0.24	-2.8152	1.2586	0.01996	0.5458:0.1613:0.1326:0.1603	.	478	Q13796	SHRM2_HUMAN	Q	478	ENSP00000370299:R478Q	ENSP00000370299:R478Q	R	+	2	0	SHROOM2	9823381	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.990000	0.29642	-0.260000	0.09418	-0.191000	0.12829	CGG	SHROOM2	-	NULL	ENSG00000146950		0.677	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	-	0.00	13	0	G	NM_001649		9863381	+1	tier1	-	no_errors	ENST00000380913	ensembl	human	known	74_37	missense	80.00	3	12	SNP	0.000	A
SHROOM2	357	genome.wustl.edu	37	X	9900355	9900355	+	Missense_Mutation	SNP	G	G	A	rs148190447		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:9900355G>A	ENST00000380913.3	+	6	3122	c.3032G>A	c.(3031-3033)cGa>cAa	p.R1011Q	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1011					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGCCGGGGCCGAGCGGGAACC	0.652													g|||	1	0.000264901	0.0	0.0	3775	,	,		11490	0.0		0.0	False		,,,				2504	0.001																0													37.0	38.0	38.0					X																	9900355		2200	4299	6499	SO:0001583	missense	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3032G>A	X.37:g.9900355G>A	ENSP00000370299:p.Arg1011Gln		B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R1011Q	ENST00000380913.3	37	c.3032	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	g	17.25	3.342979	0.61073	.	.	ENSG00000146950	ENST00000380913	T	0.15718	2.4	4.35	3.46	0.39613	.	1.119980	0.06861	N	0.799099	T	0.34395	0.0896	L	0.43152	1.355	0.35863	D	0.827614	D	0.89917	1.0	D	0.67231	0.95	T	0.04320	-1.0960	10	0.59425	D	0.04	.	11.1366	0.48378	0.095:0.0:0.905:0.0	.	1011	Q13796	SHRM2_HUMAN	Q	1011	ENSP00000370299:R1011Q	ENSP00000370299:R1011Q	R	+	2	0	SHROOM2	9860355	0.939000	0.31865	0.001000	0.08648	0.020000	0.10135	4.289000	0.59013	0.646000	0.30693	0.591000	0.81541	CGA	SHROOM2	-	NULL	ENSG00000146950		0.652	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	-	0.00	18	0	G	NM_001649		9900355	+1	tier1	-	no_errors	ENST00000380913	ensembl	human	known	74_37	missense	100.00	0	10	SNP	0.007	A
SIAH3	283514	genome.wustl.edu	37	13	46425732	46425732	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:46425732T>C	ENST00000400405.2	-	1	139	c.33A>G	c.(31-33)gtA>gtG	p.V11V		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	11					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						TGAGATCTAATACAGCCCCAA	0.527																																																	0													75.0	84.0	81.0					13																	46425732		2014	4175	6189	SO:0001819	synonymous_variant	0				CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.33A>G	13.37:g.46425732T>C			B7ZBP0|Q8N8M6	Silent	SNP	pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like	p.V11	ENST00000400405.2	37	c.33	CCDS41883.1	13																																																																																			SIAH3	-	NULL	ENSG00000215475		0.527	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIAH3	HGNC	protein_coding	OTTHUMT00000044788.2	-	0.00	60	0	T	NM_198849		46425732	-1	tier1	-	no_errors	ENST00000400405	ensembl	human	known	74_37	silent	28.12	46	18	SNP	1.000	C
SIGLEC1	6614	genome.wustl.edu	37	20	3674126	3674126	+	Missense_Mutation	SNP	C	C	T	rs376260161		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:3674126C>T	ENST00000344754.4	-	13	3475	c.3476G>A	c.(3475-3477)cGc>cAc	p.R1159H	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1159H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1159	Ig-like C2-type 11.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCTGGAGAGGCGGGGTGCCCG	0.652																																																	0								C	HIS/ARG	0,4406		0,0,2203	28.0	33.0	31.0		3476	-4.7	0.0	20		31	1,8595		0,1,4297	no	missense	SIGLEC1	NM_023068.3	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	1159/1710	3674126	1,13001	2203	4298	6501	SO:0001583	missense	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3476G>A	20.37:g.3674126C>T	ENSP00000341141:p.Arg1159His		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R1159H	ENST00000344754.4	37	c.3476	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	C	7.095	0.572971	0.13623	0.0	1.16E-4	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.12361	2.69;2.69	5.52	-4.66	0.03329	Immunoglobulin subtype (1);Immunoglobulin-like (1);	1.112820	0.06893	N	0.804582	T	0.07052	0.0179	N	0.20685	0.6	0.09310	N	1	B;B	0.27882	0.192;0.036	B;B	0.21360	0.034;0.021	T	0.39461	-0.9613	10	0.24483	T	0.36	.	7.4579	0.27276	0.0:0.3132:0.1222:0.5646	.	1159;1159	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	H	1159	ENSP00000341141:R1159H;ENSP00000202578:R1159H	ENSP00000202578:R1159H	R	-	2	0	SIGLEC1	3622126	0.000000	0.05858	0.026000	0.17262	0.228000	0.25075	-0.615000	0.05597	-0.799000	0.04439	-0.140000	0.14226	CGC	SIGLEC1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000088827		0.652	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	-	0.00	70	0	C	NM_023068		3674126	-1	tier1	-	no_errors	ENST00000344754	ensembl	human	known	74_37	missense	31.34	46	21	SNP	0.001	T
SIM2	6493	genome.wustl.edu	37	21	38117396	38117396	+	Missense_Mutation	SNP	C	C	A	rs144394618		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:38117396C>A	ENST00000290399.6	+	10	2148	c.1535C>A	c.(1534-1536)cCg>cAg	p.P512Q	SIM2_ENST00000430056.3_Missense_Mutation_p.P512Q	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	512	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CCAGAGCCACCGGCGAACACT	0.622																																																	0													30.0	27.0	28.0					21																	38117396		2203	4300	6503	SO:0001583	missense	0				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1535C>A	21.37:g.38117396C>A	ENSP00000290399:p.Pro512Gln		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.P512Q	ENST00000290399.6	37	c.1535	CCDS13646.1	21	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347561	0.41599	.	.	ENSG00000159263	ENST00000290399;ENST00000430056	T;T	0.29917	1.55;1.55	4.74	4.74	0.60224	Single-minded, C-terminal (2);	7739.340000	0.00166	N	0.000001	T	0.59445	0.2194	L	0.56769	1.78	0.27793	N	0.942755	D;D	0.76494	0.999;0.987	D;P	0.72075	0.976;0.907	T	0.58549	-0.7617	10	0.33940	T	0.23	.	18.1411	0.89639	0.0:1.0:0.0:0.0	.	512;512	Q14190;Q14190-2	SIM2_HUMAN;.	Q	512	ENSP00000290399:P512Q;ENSP00000404176:P512Q	ENSP00000290399:P512Q	P	+	2	0	SIM2	37039266	0.325000	0.24660	0.087000	0.20705	0.042000	0.13812	5.130000	0.64745	2.337000	0.79520	0.558000	0.71614	CCG	SIM2	-	pfam_SIM_C	ENSG00000159263		0.622	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM2	HGNC	protein_coding	OTTHUMT00000194692.1	-	0.00	42	0	C	NM_009586		38117396	+1	tier1	-	no_errors	ENST00000290399	ensembl	human	known	74_37	missense	45.24	23	19	SNP	0.636	A
SIPA1L1	26037	genome.wustl.edu	37	14	72055970	72055970	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:72055970G>A	ENST00000555818.1	+	2	1729	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.A461T|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.A461T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	461					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGCAGGAGTGGCAGTACTTGA	0.428																																																	0													91.0	83.0	86.0					14																	72055970		2203	4300	6503	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1381G>A	14.37:g.72055970G>A	ENSP00000450832:p.Ala461Thr		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.A461T	ENST00000555818.1	37	c.1381	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722571	0.89298	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.78364	-1.17;-1.16;-1.17	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.85164	0.5634	L	0.52364	1.645	0.80722	D	1	P;D;P	0.62365	0.944;0.991;0.941	P;P;P	0.61201	0.548;0.885;0.508	D	0.85130	0.0974	10	0.87932	D	0	-20.7257	20.6593	0.99626	0.0:0.0:1.0:0.0	.	461;461;461	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	T	461	ENSP00000370630:A461T;ENSP00000450832:A461T;ENSP00000351352:A461T	ENSP00000351352:A461T	A	+	1	0	SIPA1L1	71125723	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.529000	0.73812	2.885000	0.99019	0.655000	0.94253	GCA	SIPA1L1	-	NULL	ENSG00000197555		0.428	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1		0.00	35	0	G	NM_015556		72055970	+1			no_errors	ENST00000555818	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	A
SIRT6	51548	genome.wustl.edu	37	19	4175882	4175882	+	Missense_Mutation	SNP	G	G	A	rs201293003		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4175882G>A	ENST00000337491.2	-	5	554	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	SIRT6_ENST00000594279.1_Missense_Mutation_p.R92W|SIRT6_ENST00000305232.6_Missense_Mutation_p.R164W|SIRT6_ENST00000381935.3_Missense_Mutation_p.R92W|SIRT6_ENST00000601488.1_Missense_Mutation_p.R103W	NM_016539.2	NP_057623.2	Q8N6T7	SIR6_HUMAN	sirtuin 6	164	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|protein ADP-ribosylation (GO:0006471)|regulation of double-strand break repair via homologous recombination (GO:0010569)	nuclear telomeric heterochromatin (GO:0005724)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCAGAGCCGGCCCGTGGCC	0.692																																																	0													19.0	16.0	17.0					19																	4175882		2198	4284	6482	SO:0001583	missense	0			AF233396	CCDS12122.1, CCDS54199.1	19p13.3	2010-06-25	2010-06-25			ENSG00000077463			14934	protein-coding gene	gene with protein product		606211	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 6"", ""sirtuin (silent mating type information regulation 2 homolog) 6 (S. cerevisiae)"""			10873683	Standard	NM_016539		Approved		uc002lzo.3	Q8N6T7		ENST00000337491.2:c.490C>T	19.37:g.4175882G>A	ENSP00000337332:p.Arg164Trp		B2RCD0|O75291|Q6IAF5|Q6PK99|Q8NCD2|Q9BSI5|Q9BWP3|Q9NRC7|Q9UQD1	Missense_Mutation	SNP	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	p.R164W	ENST00000337491.2	37	c.490	CCDS12122.1	19	.	.	.	.	.	.	.	.	.	.	G	18.83	3.708143	0.68615	.	.	ENSG00000077463	ENST00000337491;ENST00000305232;ENST00000381935	T;T;T	0.18016	2.24;2.24;2.24	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.984;0.992;0.991;0.995	T	0.35425	-0.9789	10	0.87932	D	0	-30.0764	11.3587	0.49630	0.0:0.0:0.8183:0.1817	.	164;103;164;92	Q8N6T7-2;E9PCE1;Q8N6T7;B7Z5U1	.;.;SIRT6_HUMAN;.	W	164;164;92	ENSP00000337332:R164W;ENSP00000305310:R164W;ENSP00000371360:R92W	ENSP00000305310:R164W	R	-	1	2	SIRT6	4126882	0.995000	0.38212	0.942000	0.38095	0.661000	0.39034	2.424000	0.44714	2.126000	0.65437	0.491000	0.48974	CGG	SIRT6	-	pfam_Sirtuin,pfscan_Ssirtuin_cat_dom	ENSG00000077463		0.692	SIRT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT6	HGNC	protein_coding	OTTHUMT00000457931.2		0.00	12	0	G			4175882	-1			no_errors	ENST00000337491	ensembl	human	known	74_37	missense	33.33	6	3	SNP	0.971	A
SIX3	6496	genome.wustl.edu	37	2	45169257	45169257	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:45169257delC	ENST00000260653.3	+	1	356	c.14delC	c.(13-15)tccfs	p.S5fs	SIX3-AS1_ENST00000456467.1_RNA|SIX3-AS1_ENST00000419364.1_RNA|RP11-89K21.1_ENST00000437916.2_lincRNA	NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	5					brain development (GO:0007420)|circadian behavior (GO:0048512)|diencephalon development (GO:0021536)|eye development (GO:0001654)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|lens induction in camera-type eye (GO:0060235)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|protein import into nucleus (GO:0006606)|telencephalon development (GO:0021537)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|transcription corepressor binding (GO:0001222)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTATTCCGCTCCCCCCTAGAC	0.587																																																	0													110.0	105.0	106.0					2																	45169257		1816	3801	5617	SO:0001589	frameshift_variant	0			AF092047	CCDS1821.1	2p21	2011-06-20	2007-07-13		ENSG00000138083	ENSG00000138083		"""Homeoboxes / SINE class"""	10889	protein-coding gene	gene with protein product		603714	"""holoprosencephaly 2, alobar or semilobar"", ""sine oculis homeobox homolog 3 (Drosophila)"""	HPE2		9889003, 10369266	Standard	NM_005413		Approved		uc002run.2	O95343	OTTHUMG00000152424	ENST00000260653.3:c.14delC	2.37:g.45169257delC	ENSP00000260653:p.Ser5fs		D6W5A5|Q53T42	Frame_Shift_Del	DEL	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.L7fs	ENST00000260653.3	37	c.14	CCDS1821.1	2																																																																																			SIX3	-	NULL	ENSG00000138083		0.587	SIX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX3	HGNC	protein_coding	OTTHUMT00000326192.1		0.00	65	0	C	NM_005413		45169257	+1	tier1		no_errors	ENST00000260653	ensembl	human	known	74_37	frame_shift_del	43.48	26	20	DEL	1.000	-
SLC11A2	4891	genome.wustl.edu	37	12	51390736	51390736	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:51390736C>T	ENST00000262051.7	-	9	782	c.695G>A	c.(694-696)aGc>aAc	p.S232N	SLC11A2_ENST00000394904.3_Missense_Mutation_p.S261N|SLC11A2_ENST00000547198.1_Missense_Mutation_p.S232N|SLC11A2_ENST00000541174.2_Missense_Mutation_p.S232N|SLC11A2_ENST00000546743.1_Missense_Mutation_p.S153N|SLC11A2_ENST00000545993.2_Missense_Mutation_p.S228N|SLC11A2_ENST00000262052.5_Missense_Mutation_p.S232N|SLC11A2_ENST00000547688.1_Missense_Mutation_p.S261N	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	232					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CTGGCTCTGGCTGGGTTTCAC	0.488																																																	0													199.0	133.0	156.0					12																	51390736		2203	4300	6503	SO:0001583	missense	0			AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.695G>A	12.37:g.51390736C>T	ENSP00000262051:p.Ser232Asn		B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Missense_Mutation	SNP	pfam_NRAMP-like,prints_NRAMP-like,tigrfam_NRAMP-like	p.S261N	ENST00000262051.7	37	c.782	CCDS53792.1	12	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888713	0.33348	.	.	ENSG00000110911	ENST00000262051;ENST00000547198;ENST00000262052;ENST00000394904;ENST00000547688;ENST00000541174;ENST00000545993;ENST00000546743;ENST00000546488	T;T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.79	-5.33	0.02713	.	0.730743	0.13763	N	0.364457	T	0.37100	0.0991	N	0.03324	-0.35	0.31059	N	0.714311	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.001;0.001;0.001;0.001;0.001;0.002	T	0.26503	-1.0101	10	0.15499	T	0.54	-0.1096	15.5697	0.76323	0.0:0.2273:0.0:0.7727	.	195;228;261;232;81;232	B7Z9M2;F5H741;P49281-3;P49281-2;B3KY44;P49281	.;.;.;.;.;NRAM2_HUMAN	N	232;232;232;261;261;232;228;153;150	ENSP00000262051:S232N;ENSP00000446769:S232N;ENSP00000262052:S232N;ENSP00000378364:S261N;ENSP00000449200:S261N;ENSP00000444542:S232N;ENSP00000442810:S228N;ENSP00000446914:S153N;ENSP00000450389:S150N	ENSP00000262051:S232N	S	-	2	0	SLC11A2	49677003	0.002000	0.14202	0.824000	0.32777	0.996000	0.88848	-0.302000	0.08221	-0.988000	0.03489	-0.140000	0.14226	AGC	SLC11A2	-	pfam_NRAMP-like,tigrfam_NRAMP-like	ENSG00000110911		0.488	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC11A2	HGNC	protein_coding	OTTHUMT00000404383.1	-	0.00	56	0	C			51390736	-1	tier1	-	no_errors	ENST00000394904	ensembl	human	known	74_37	missense	37.78	56	34	SNP	0.973	T
SLC12A3	6559	genome.wustl.edu	37	16	56926017	56926017	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:56926017G>A	ENST00000563236.1	+	20	2416	c.2391G>A	c.(2389-2391)gcG>gcA	p.A797A	SLC12A3_ENST00000438926.2_Silent_p.A797A|SLC12A3_ENST00000566786.1_Silent_p.A796A|SLC12A3_ENST00000262502.5_Silent_p.A796A			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	797					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTGACCCAGCGGAGGACGGGA	0.607																																																	0													128.0	121.0	124.0					16																	56926017		2198	4300	6498	SO:0001819	synonymous_variant	0				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2391G>A	16.37:g.56926017G>A			A8MSJ2|C9JNN9	Silent	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.A797	ENST00000563236.1	37	c.2391	CCDS58464.1	16																																																																																			SLC12A3	-	tigrfam_Na/K/Cl_cotransptS	ENSG00000070915		0.607	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	HGNC	protein_coding	OTTHUMT00000432337.1	-	0.00	68	0	G			56926017	+1	tier1	-	no_errors	ENST00000438926	ensembl	human	known	74_37	silent	29.41	36	15	SNP	0.089	A
SLC12A5	57468	genome.wustl.edu	37	20	44669992	44669992	+	Silent	SNP	G	G	A	rs138406290		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:44669992G>A	ENST00000454036.2	+	8	997	c.948G>A	c.(946-948)acG>acA	p.T316T	SLC12A5_ENST00000243964.3_Silent_p.T293T	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	316					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTAACCGCACGCTGTCTCGCC	0.582																																																	0													96.0	86.0	90.0					20																	44669992		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.948G>A	20.37:g.44669992G>A			A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.T316	ENST00000454036.2	37	c.948	CCDS46610.1	20																																																																																			SLC12A5	-	prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.582	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	-	0.00	54	0	G			44669992	+1	tier1	-	no_errors	ENST00000454036	ensembl	human	known	74_37	silent	25.00	39	13	SNP	0.982	A
SLC16A12	387700	genome.wustl.edu	37	10	91196023	91196023	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:91196023C>A	ENST00000341233.4	-	7	1382	c.992G>T	c.(991-993)gGg>gTg	p.G331V	SLC16A12_ENST00000371790.4_Missense_Mutation_p.G361V	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	331						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						ATAGCAGAGCCCATCCATTCC	0.458																																																	0													131.0	114.0	120.0					10																	91196023		2203	4300	6503	SO:0001583	missense	0				CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.992G>T	10.37:g.91196023C>A	ENSP00000343022:p.Gly331Val		Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G361V	ENST00000341233.4	37	c.1082		10	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395825	0.83011	.	.	ENSG00000152779	ENST00000341233;ENST00000371790	T;T	0.81163	-1.46;-1.46	5.81	5.81	0.92471	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.102807	0.64402	D	0.000002	D	0.89511	0.6736	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89846	0.4006	10	0.59425	D	0.04	.	13.9766	0.64277	0.1513:0.8487:0.0:0.0	.	331	Q6ZSM3	MOT12_HUMAN	V	331;361	ENSP00000343022:G331V;ENSP00000360855:G361V	ENSP00000343022:G331V	G	-	2	0	SLC16A12	91186003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.930000	0.70104	2.746000	0.94184	0.591000	0.81541	GGG	SLC16A12	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000152779		0.458	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	SLC16A12	HGNC	protein_coding		-	0.00	34	0	C	NM_213606		91196023	-1	tier1	-	no_errors	ENST00000371790	ensembl	human	known	74_37	missense	30.00	21	9	SNP	1.000	A
SLC16A12	387700	genome.wustl.edu	37	10	91203598	91203598	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:91203598delA	ENST00000341233.4	-	4	519	c.129delT	c.(127-129)tttfs	p.F43fs	SLC16A12_ENST00000371790.4_Frame_Shift_Del_p.F73fs	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						GGAACTCCACAAAAAAAATTG	0.363																																																	0													84.0	78.0	80.0					10																	91203598		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.129delT	10.37:g.91203598delA	ENSP00000343022:p.Phe43fs		Q5M9M9|Q5T7J2|Q6ZV76	Frame_Shift_Del	DEL	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F73fs	ENST00000341233.4	37	c.219		10																																																																																			SLC16A12	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000152779		0.363	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	SLC16A12	HGNC	protein_coding			0.00	48	0	A	NM_213606		91203598	-1	tier1		no_errors	ENST00000371790	ensembl	human	known	74_37	frame_shift_del	16.67	30	6	DEL	1.000	-
SLC16A14	151473	genome.wustl.edu	37	2	230910833	230910833	+	Missense_Mutation	SNP	G	G	T	rs201567975	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:230910833G>T	ENST00000295190.4	-	4	1467	c.1009C>A	c.(1009-1011)Ctc>Atc	p.L337I		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	337						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ATTTCTGGGAGGTGAATGAAG	0.398																																																	0													67.0	66.0	66.0					2																	230910833		2203	4300	6503	SO:0001583	missense	0			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1009C>A	2.37:g.230910833G>T	ENSP00000295190:p.Leu337Ile		A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L337I	ENST00000295190.4	37	c.1009	CCDS2473.1	2	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366388	0.61513	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.61040	0.14;0.14;0.14	4.84	4.84	0.62591	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.53938	D	0.000052	T	0.66944	0.2841	L	0.52126	1.63	0.46609	D	0.999121	P;P	0.46064	0.747;0.872	P;P	0.56563	0.759;0.801	T	0.61946	-0.6958	10	0.27082	T	0.32	.	18.1364	0.89620	0.0:0.0:1.0:0.0	.	337;337	E7EMG7;Q7RTX9	.;MOT14_HUMAN	I	337	ENSP00000295190:L337I;ENSP00000400352:L337I;ENSP00000395775:L337I	ENSP00000295190:L337I	L	-	1	0	SLC16A14	230619077	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.218000	0.58554	2.509000	0.84616	0.561000	0.74099	CTC	SLC16A14	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000163053		0.398	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	HGNC	protein_coding	OTTHUMT00000256918.2	-	0.00	34	0	G	NM_152527		230910833	-1	tier1	-	no_errors	ENST00000295190	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T
SLC16A4	9122	genome.wustl.edu	37	1	110906427	110906427	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:110906427delA	ENST00000369779.4	-	9	1674	c.1425delT	c.(1423-1425)tttfs	p.F475fs	SLC16A4_ENST00000369781.4_Frame_Shift_Del_p.F307fs|SLC16A4_ENST00000472422.2_Frame_Shift_Del_p.F427fs|SLC16A4_ENST00000541986.1_Frame_Shift_Del_p.F413fs|SLC16A4_ENST00000437429.2_Frame_Shift_Del_p.L372fs	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	475					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.F475fs*12(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CCAATGGTACAAAAAAAAAGG	0.388																																																	1	Deletion - Frameshift(1)	large_intestine(1)							,,,,	2,8,4256		0,0,2,3,2,2126	96.0	95.0	95.0		,,,,	0.9	1.0	1		97	2,31,8221		0,0,2,11,9,4105	no	codingComplex,codingComplex,codingComplex,codingComplex,codingComplex	SLC16A4	NM_004696.2,NM_001201549.1,NM_001201548.1,NM_001201547.1,NM_001201546.1	,,,,	0,0,4,14,11,6231	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3998,0.2344,0.3435	,,,,	,,,,	110906427	4,39,12477	2203	4300	6503	SO:0001589	frameshift_variant	0			U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.1425delT	1.37:g.110906427delA	ENSP00000358794:p.Phe475fs		A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Frame_Shift_Del	DEL	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F475fs	ENST00000369779.4	37	c.1425	CCDS823.1	1																																																																																			SLC16A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000168679		0.388	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A4	HGNC	protein_coding	OTTHUMT00000031115.3		0.00	30	0	A	NM_004696		110906427	-1	tier1		no_errors	ENST00000369779	ensembl	human	known	74_37	frame_shift_del	30.43	32	14	DEL	0.998	-
SLC17A2	10246	genome.wustl.edu	37	6	25916975	25916975	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:25916975T>C	ENST00000265425.3	-	7	888	c.868A>G	c.(868-870)Acc>Gcc	p.T290A	SLC17A2_ENST00000377850.3_Missense_Mutation_p.T290A|SLC17A2_ENST00000360488.3_Missense_Mutation_p.T290A			O00624	NPT3_HUMAN	solute carrier family 17, member 2	290					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AGGATGATGGTGCACAACCAG	0.448																																																	0													132.0	116.0	122.0					6																	25916975		2203	4300	6503	SO:0001583	missense	0			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.868A>G	6.37:g.25916975T>C	ENSP00000265425:p.Thr290Ala		A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T290A	ENST00000265425.3	37	c.868		6	.	.	.	.	.	.	.	.	.	.	T	10.62	1.400070	0.25291	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.58060	0.36;0.36;0.36	4.65	4.65	0.58169	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.56097	D	0.000026	T	0.14960	0.0361	N	0.08118	0	0.31076	N	0.71245	B;B;B	0.29085	0.099;0.06;0.232	B;B;B	0.26517	0.065;0.036;0.07	T	0.07233	-1.0783	10	0.33940	T	0.23	.	10.6641	0.45719	0.0:0.0:0.0:1.0	.	290;290;290	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	A	290	ENSP00000353677:T290A;ENSP00000367081:T290A;ENSP00000265425:T290A	ENSP00000265425:T290A	T	-	1	0	SLC17A2	26024954	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.205000	0.42770	2.067000	0.61834	0.460000	0.39030	ACC	SLC17A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000112337		0.448	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	SLC17A2	HGNC	protein_coding	OTTHUMT00000040075.1	-	0.00	83	0	T			25916975	-1	tier1	-	no_errors	ENST00000377850	ensembl	human	known	74_37	missense	35.38	42	23	SNP	1.000	C
SLC17A5	26503	genome.wustl.edu	37	6	74351590	74351590	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:74351590delA	ENST00000355773.5	-	3	617	c.349delT	c.(349-351)tatfs	p.Y117fs	SLC17A5_ENST00000481996.1_5'UTR|SLC17A5_ENST00000393019.3_Frame_Shift_Del_p.Y117fs	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	117					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGTAGCCATAAAAAAAGGAA	0.423																																																	0													113.0	121.0	118.0					6																	74351590		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.349delT	6.37:g.74351590delA	ENSP00000348019:p.Tyr117fs		Q5SZ76|Q8NBR5|Q9UGH0	Frame_Shift_Del	DEL	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Y117fs	ENST00000355773.5	37	c.349	CCDS4981.1	6																																																																																			SLC17A5	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000119899		0.423	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A5	HGNC	protein_coding	OTTHUMT00000041228.1		0.00	86	0	A			74351590	-1	tier1		no_errors	ENST00000355773	ensembl	human	known	74_37	frame_shift_del	19.35	50	12	DEL	1.000	-
SLC17A7	57030	genome.wustl.edu	37	19	49934034	49934034	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:49934034G>T	ENST00000221485.3	-	12	1596	c.1425C>A	c.(1423-1425)gcC>gcA	p.A475A	SLC17A7_ENST00000600601.1_Silent_p.A408A|SLC17A7_ENST00000543531.1_Silent_p.A463A	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	475					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GCACCAGGGAGGCAATTAGGA	0.572																																																	0													80.0	70.0	73.0					19																	49934034		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1425C>A	19.37:g.49934034G>T			B4DFR9|B4DG46|Q6PCD0	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A475	ENST00000221485.3	37	c.1425	CCDS12764.1	19																																																																																			SLC17A7	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000104888		0.572	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A7	HGNC	protein_coding	OTTHUMT00000465367.2	-	0.00	50	0	G			49934034	-1	tier1	-	no_errors	ENST00000221485	ensembl	human	known	74_37	silent	6.56	57	4	SNP	1.000	T
SLC18A3	6572	genome.wustl.edu	37	10	50819809	50819809	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:50819809C>T	ENST00000374115.3	+	1	1463	c.1023C>T	c.(1021-1023)ggC>ggT	p.G341G	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	341					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ATGTGCTGGGCGTCTACCTCA	0.667																																																	0													69.0	68.0	68.0					10																	50819809		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1023C>T	10.37:g.50819809C>T			B2R7S1	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G341	ENST00000374115.3	37	c.1023	CCDS7231.1	10																																																																																			SLC18A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000187714		0.667	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A3	HGNC	protein_coding	OTTHUMT00000047995.1	-	0.00	31	0	C	NM_003055		50819809	+1	tier1	-	no_errors	ENST00000374115	ensembl	human	known	74_37	silent	44.83	16	13	SNP	1.000	T
SLC19A1	6573	genome.wustl.edu	37	21	46951462	46951462	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:46951462G>A	ENST00000311124.4	-	3	942	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	SLC19A1_ENST00000567670.1_Missense_Mutation_p.R264W|SLC19A1_ENST00000380010.4_Missense_Mutation_p.R264W|SLC19A1_ENST00000485649.2_Missense_Mutation_p.R224W	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	264					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	AGCTGCGGCCGCCGCAGGCTG	0.687																																																	0													31.0	42.0	39.0					21																	46951462		2175	4263	6438	SO:0001583	missense	0			U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.790C>T	21.37:g.46951462G>A	ENSP00000308895:p.Arg264Trp		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Missense_Mutation	SNP	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.R264W	ENST00000311124.4	37	c.790	CCDS13725.1	21	.	.	.	.	.	.	.	.	.	.	G	14.67	2.603966	0.46423	.	.	ENSG00000173638	ENST00000380014;ENST00000311124;ENST00000380010;ENST00000485649	D;D;D	0.81739	-1.53;-1.53;-1.53	3.98	3.98	0.46160	Major facilitator superfamily domain, general substrate transporter (1);	1.468860	0.05376	U	0.536289	T	0.80502	0.4635	N	0.08118	0	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;P;D	0.68765	0.96;0.917;0.862;0.917	T	0.72510	-0.4271	10	0.66056	D	0.02	-3.3247	10.8963	0.47025	0.0:0.0:0.8113:0.1887	.	224;286;264;264	B7Z8C3;D3DSM6;E9PFY4;P41440	.;.;.;S19A1_HUMAN	W	11;264;264;224	ENSP00000308895:R264W;ENSP00000369347:R264W;ENSP00000441772:R224W	ENSP00000308895:R264W	R	-	1	2	SLC19A1	45775890	0.001000	0.12720	0.516000	0.27786	0.498000	0.33706	1.020000	0.30027	2.191000	0.70037	0.306000	0.20318	CGG	SLC19A1	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	ENSG00000173638		0.687	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A1	HGNC	protein_coding	OTTHUMT00000206796.1	-	0.00	102	0	G			46951462	-1	tier1	-	no_errors	ENST00000311124	ensembl	human	known	74_37	missense	41.03	45	32	SNP	0.002	A
SLC1A4	6509	genome.wustl.edu	37	2	65248232	65248232	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:65248232delC	ENST00000234256.3	+	8	1794	c.1551delC	c.(1549-1551)ggcfs	p.G517fs	SLC1A4_ENST00000531327.1_Frame_Shift_Del_p.G219fs	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	517					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	ACCCCGCTGGCCCCGTGGCCA	0.607																																																	0													63.0	63.0	63.0					2																	65248232		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.1551delC	2.37:g.65248232delC	ENSP00000234256:p.Gly517fs		B7Z3C0|D6W5F0	Frame_Shift_Del	DEL	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.V519fs	ENST00000234256.3	37	c.1551	CCDS1879.1	2																																																																																			SLC1A4	-	NULL	ENSG00000115902		0.607	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A4	HGNC	protein_coding	OTTHUMT00000251726.2		0.00	31	0	C	NM_003038		65248232	+1	tier1		no_errors	ENST00000234256	ensembl	human	known	74_37	frame_shift_del	35.29	22	12	DEL	0.025	-
SLC20A2	6575	genome.wustl.edu	37	8	42302215	42302215	+	Missense_Mutation	SNP	C	C	T	rs140978915		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:42302215C>T	ENST00000342228.3	-	6	1048	c.679G>A	c.(679-681)Gct>Act	p.A227T	SLC20A2_ENST00000520262.1_Missense_Mutation_p.A227T|SLC20A2_ENST00000520179.1_Missense_Mutation_p.A227T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	227					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACAAAAAAAGCGAACAGGAGG	0.493																																																	0								C	THR/ALA	0,4406		0,0,2203	172.0	135.0	147.0		679	5.8	1.0	8	dbSNP_134	147	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC20A2	NM_006749.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	227/653	42302215	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.679G>A	8.37:g.42302215C>T	ENSP00000340465:p.Ala227Thr			Missense_Mutation	SNP	pfam_Phos_transporter	p.A227T	ENST00000342228.3	37	c.679	CCDS6132.1	8	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092237	0.76756	0.0	1.16E-4	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.92397	-3.03;-3.03;-3.03	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	D	0.94974	0.8119	10	0.49607	T	0.09	-33.3646	17.4765	0.87660	0.0:1.0:0.0:0.0	.	227	Q08357	S20A2_HUMAN	T	227	ENSP00000340465:A227T;ENSP00000429754:A227T;ENSP00000429712:A227T	ENSP00000340465:A227T	A	-	1	0	SLC20A2	42421372	1.000000	0.71417	0.977000	0.42913	0.033000	0.12548	4.500000	0.60387	2.728000	0.93425	0.655000	0.94253	GCT	SLC20A2	-	pfam_Phos_transporter	ENSG00000168575		0.493	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A2	HGNC	protein_coding	OTTHUMT00000377578.1	-	0.00	36	0	C			42302215	-1	tier1	rs140978915	no_errors	ENST00000342228	ensembl	human	known	74_37	missense	23.81	48	15	SNP	1.000	T
SLC23A2	9962	genome.wustl.edu	37	20	4850601	4850601	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:4850601A>G	ENST00000379333.1	-	12	1593	c.1201T>C	c.(1201-1203)Tgt>Cgt	p.C401R	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Missense_Mutation_p.C287R|SNORA31_ENST00000516287.1_RNA|SLC23A2_ENST00000338244.1_Missense_Mutation_p.C401R	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	401					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGCCGTGCACAGGCGTAGTAG	0.582																																																	0													91.0	88.0	89.0					20																	4850601		2203	4300	6503	SO:0001583	missense	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1201T>C	20.37:g.4850601A>G	ENSP00000368637:p.Cys401Arg		B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.C401R	ENST00000379333.1	37	c.1201	CCDS13085.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.62|17.62	3.434670|3.434670	0.62955|0.62955	.|.	.|.	ENSG00000089057|ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750|ENST00000423430	T;T;T|.	0.18810|.	2.19;2.19;2.19|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84079|0.84079	0.5393|0.5393	M|M	0.91249|0.91249	3.19|3.19	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.997;0.996;0.993|.	D;D;D|.	0.83275|.	0.996;0.973;0.973|.	D|D	0.87623|0.87623	0.2511|0.2511	10|5	0.87932|.	D|.	0|.	-17.8709|-17.8709	14.7063|14.7063	0.69194|0.69194	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	287;401;401|.	B4DJZ1;A0MSJ5;Q9UGH3|.	.;.;S23A2_HUMAN|.	R|P	401;401;287|157	ENSP00000368637:C401R;ENSP00000344322:C401R;ENSP00000406601:C287R|.	ENSP00000344322:C401R|.	C|L	-|-	1|2	0|0	SLC23A2|SLC23A2	4798601|4798601	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.201000|0.201000	0.24016|0.24016	9.313000|9.313000	0.96297|0.96297	2.212000|2.212000	0.71576|0.71576	0.460000|0.460000	0.39030|0.39030	TGT|CTG	SLC23A2	-	pfam_Xant/urac/vitC	ENSG00000089057		0.582	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1	-	0.00	35	0	A			4850601	-1	tier1	-	no_errors	ENST00000338244	ensembl	human	known	74_37	missense	37.50	15	9	SNP	1.000	G
SLC23A2	9962	genome.wustl.edu	37	20	4864391	4864391	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:4864391A>G	ENST00000379333.1	-	9	1113	c.721T>C	c.(721-723)Tac>Cac	p.Y241H	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Intron|snoU13_ENST00000516249.1_RNA|SLC23A2_ENST00000338244.1_Missense_Mutation_p.Y241H	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	241					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGACCGATGTACTTCAGTAGA	0.582																																																	0													96.0	87.0	90.0					20																	4864391		2203	4300	6503	SO:0001583	missense	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.721T>C	20.37:g.4864391A>G	ENSP00000368637:p.Tyr241His		B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.Y241H	ENST00000379333.1	37	c.721	CCDS13085.1	20	.	.	.	.	.	.	.	.	.	.	A	16.65	3.183250	0.57800	.	.	ENSG00000089057	ENST00000379333;ENST00000338244	T;T	0.17691	2.26;2.26	5.43	5.43	0.79202	.	0.110472	0.64402	D	0.000005	T	0.33381	0.0861	L	0.48642	1.525	0.80722	D	1	D;D	0.59767	0.986;0.986	D;D	0.64595	0.927;0.927	T	0.02437	-1.1159	10	0.66056	D	0.02	-16.4598	14.4482	0.67367	1.0:0.0:0.0:0.0	.	241;241	A0MSJ5;Q9UGH3	.;S23A2_HUMAN	H	241	ENSP00000368637:Y241H;ENSP00000344322:Y241H	ENSP00000344322:Y241H	Y	-	1	0	SLC23A2	4812391	1.000000	0.71417	0.974000	0.42286	0.438000	0.31896	9.113000	0.94321	2.279000	0.76181	0.533000	0.62120	TAC	SLC23A2	-	pfam_Xant/urac/vitC	ENSG00000089057		0.582	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1	-	0.00	30	0	A			4864391	-1	tier1	-	no_errors	ENST00000338244	ensembl	human	known	74_37	missense	51.72	14	15	SNP	1.000	G
SLC23A2	9962	genome.wustl.edu	37	20	4893541	4893541	+	Silent	SNP	G	G	A	rs201503850	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:4893541G>A	ENST00000379333.1	-	4	584	c.192C>T	c.(190-192)aaC>aaT	p.N64N	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Silent_p.N64N|SLC23A2_ENST00000338244.1_Silent_p.N64N	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	64					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGCAATGCCGTTTTCCGTAG	0.587													G|||	2	0.000399361	0.0	0.0	5008	,	,		12388	0.0		0.0	False		,,,				2504	0.002																0													248.0	200.0	216.0					20																	4893541		2203	4300	6503	SO:0001819	synonymous_variant	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.192C>T	20.37:g.4893541G>A			B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	pfam_Xant/urac/vitC	p.N64	ENST00000379333.1	37	c.192	CCDS13085.1	20																																																																																			SLC23A2	-	NULL	ENSG00000089057		0.587	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1	-	0.00	25	0	G			4893541	-1	tier1	rs201503850	no_errors	ENST00000338244	ensembl	human	known	74_37	silent	32.35	23	11	SNP	0.610	A
SLC25A16	8034	genome.wustl.edu	37	10	70243182	70243182	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:70243182delT	ENST00000609923.1	-	0	1104				SLC25A16_ENST00000539557.1_3'UTR|SLC25A16_ENST00000265870.3_5'UTR	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier), member 16						coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	antiporter activity (GO:0015297)			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						CCAACCATAATTTTTTTTTAG	0.348																																																	0													55.0	57.0	56.0					10																	70243182		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			M31659	CCDS7280.1	10q21.3-q22.1	2014-06-17	2014-06-17		ENSG00000122912	ENSG00000122912		"""Solute carriers"""	10986	protein-coding gene	gene with protein product	"""Graves disease autoantigen"""	139080				8444471, 2575220	Standard	NM_152707		Approved	GDA, D10S105E, HGT.1, ML7	uc001joi.3	P16260	OTTHUMG00000018354	ENST00000609923.1:c.*7A>-	10.37:g.70243182delT			Q8N2U1	RNA	DEL	-	NULL	ENST00000609923.1	37	NULL	CCDS7280.1	10																																																																																			SLC25A16	-	-	ENSG00000122912		0.348	SLC25A16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A16	HGNC	protein_coding	OTTHUMT00000048347.2		0.00	36	0	T			70243182	-1	tier1		no_errors	ENST00000265870	ensembl	human	known	74_37	rna	24.32	56	18	DEL	0.272	-
SLC25A23	79085	genome.wustl.edu	37	19	6458220	6458220	+	Missense_Mutation	SNP	C	C	T	rs549386407		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:6458220C>T	ENST00000301454.4	-	2	378	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	SLC25A23_ENST00000334510.5_Missense_Mutation_p.R91Q	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	91	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				adenine nucleotide transport (GO:0051503)|cellular response to calcium ion (GO:0071277)|regulation of cellular respiration (GO:0043457)|regulation of oxidative phosphorylation (GO:0002082)|regulation of sequestering of calcium ion (GO:0051282)|transmembrane transport (GO:0055085)|urea homeostasis (GO:0097274)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						ATCCTGGTTCCGGTCAAGACT	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18683	0.001		0.0	False		,,,				2504	0.0																0													54.0	44.0	47.0					19																	6458220		2203	4300	6503	SO:0001583	missense	0			AJ619962	CCDS32882.1	19p13.1	2014-02-06			ENSG00000125648	ENSG00000125648		"""Solute carriers"", ""EF-hand domain containing"""	19375	protein-coding gene	gene with protein product		608746				15123600	Standard	NM_024103		Approved	FLJ30339, MGC2615, APC2	uc002mex.1	Q9BV35	OTTHUMG00000180852	ENST00000301454.4:c.272G>A	19.37:g.6458220C>T	ENSP00000301454:p.Arg91Gln		B4DGB6|Q4LBC2|Q705K3|Q86Y43|Q8N2N4|Q96NQ4	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.R91Q	ENST00000301454.4	37	c.272	CCDS32882.1	19	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245228	0.59103	.	.	ENSG00000125648	ENST00000264088;ENST00000301454;ENST00000334510	T;T;T	0.71698	-0.59;-0.59;-0.59	4.72	3.68	0.42216	EF-hand-like domain (1);	0.367561	0.26072	N	0.026501	T	0.63367	0.2505	L	0.56769	1.78	0.44539	D	0.997493	B	0.30439	0.279	B	0.28784	0.094	T	0.57814	-0.7746	10	0.22706	T	0.39	-22.354	11.5798	0.50885	0.0:0.9103:0.0:0.0897	.	91	Q9BV35	SCMC3_HUMAN	Q	91	ENSP00000264088:R91Q;ENSP00000301454:R91Q;ENSP00000334537:R91Q	ENSP00000264088:R91Q	R	-	2	0	SLC25A23	6409220	0.815000	0.29118	0.996000	0.52242	0.897000	0.52465	1.348000	0.33987	0.983000	0.38602	0.462000	0.41574	CGG	SLC25A23	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000125648		0.607	SLC25A23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A23	HGNC	protein_coding	OTTHUMT00000453325.1	-	0.00	35	0	C	NM_024103		6458220	-1	tier1	-	no_errors	ENST00000264088	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.999	T
SLC26A1	10861	genome.wustl.edu	37	4	985254	985254	+	Missense_Mutation	SNP	C	C	T	rs374288131		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:985254C>T	ENST00000361661.2	-	3	615	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000513138.1_5'Flank|SLC26A1_ENST00000398520.2_Missense_Mutation_p.G80S|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G80S	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	80					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGGATGATGCCGATGACCAGC	0.652																																																	0								C	,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	76.0	69.0	71.0		,238,238,238	5.1	1.0	4		71	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,missense,missense	IDUA,SLC26A1	NM_000203.3,NM_022042.2,NM_134425.1,NM_213613.2	,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging,probably-damaging,probably-damaging	,80/702,80/225,80/702	985254	1,13005	2203	4300	6503	SO:0001583	missense	0			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.238G>A	4.37:g.985254C>T	ENSP00000354721:p.Gly80Ser		A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.G80S	ENST00000361661.2	37	c.238	CCDS33934.1	4	.	.	.	.	.	.	.	.	.	.	C	23.1	4.369918	0.82573	0.0	1.16E-4	ENSG00000145217	ENST00000398520;ENST00000361661;ENST00000398516	D;D;D	0.91945	-2.94;-2.94;-2.94	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.95204	0.8445	M	0.62154	1.92	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.87578	0.998;0.902	D	0.95650	0.8706	10	0.87932	D	0	.	16.0755	0.80965	0.0:1.0:0.0:0.0	.	80;80	Q9H2B4;Q96BK0	S26A1_HUMAN;.	S	80	ENSP00000381532:G80S;ENSP00000354721:G80S;ENSP00000381528:G80S	ENSP00000354721:G80S	G	-	1	0	SLC26A1	975254	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	5.955000	0.70306	2.380000	0.81148	0.313000	0.20887	GGC	SLC26A1	-	tigrfam_SulP_transpt	ENSG00000145217		0.652	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A1	HGNC	protein_coding	OTTHUMT00000358783.1	-	0.00	59	0	C	NM_022042, NM_134425		985254	-1	tier1	-	no_errors	ENST00000361661	ensembl	human	known	74_37	missense	25.81	23	8	SNP	1.000	T
SLC26A2	1836	genome.wustl.edu	37	5	149360003	149360003	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:149360003G>A	ENST00000286298.4	+	3	1115	c.847G>A	c.(847-849)Gtg>Atg	p.V283M		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	283					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GACTAATGGTGTGGGCTCACT	0.453																																																	0													182.0	164.0	171.0					5																	149360003		2203	4300	6503	SO:0001583	missense	0			U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.847G>A	5.37:g.149360003G>A	ENSP00000286298:p.Val283Met		A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.V283M	ENST00000286298.4	37	c.847	CCDS4300.1	5	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334056	0.41297	.	.	ENSG00000155850	ENST00000286298	D	0.93547	-3.24	5.26	5.26	0.73747	Sulphate transporter (1);	0.195352	0.47852	D	0.000218	D	0.91858	0.7423	N	0.20986	0.625	0.26738	N	0.970444	P	0.48834	0.916	P	0.60345	0.873	D	0.84987	0.0892	10	0.33141	T	0.24	.	9.6263	0.39752	0.1552:0.0:0.8448:0.0	.	283	P50443	S26A2_HUMAN	M	283	ENSP00000286298:V283M	ENSP00000286298:V283M	V	+	1	0	SLC26A2	149340196	0.734000	0.28142	0.955000	0.39395	0.962000	0.63368	0.598000	0.24074	2.464000	0.83262	0.579000	0.79373	GTG	SLC26A2	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000155850		0.453	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A2	HGNC	protein_coding	OTTHUMT00000252333.2	-	0.00	90	0	G	NM_000112		149360003	+1	tier1	-	no_errors	ENST00000286298	ensembl	human	known	74_37	missense	38.16	47	29	SNP	1.000	A
SLC27A3	11000	genome.wustl.edu	37	1	153751860	153751860	+	Frame_Shift_Del	DEL	C	C	-	rs572408453	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:153751860delC	ENST00000368661.3	+	9	1992	c.1927delC	c.(1927-1929)cccfs	p.P644fs	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Frame_Shift_Del_p.P725fs	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	644					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGTTCTGCGTCCCCCCCACGC	0.617													|||unknown(LONG_INSERTION)	4	0.000798722	0.0	0.0043	5008	,	,		17653	0.001		0.0	False		,,,				2504	0.0																0										8,16,4240		0,0,8,7,2,2115	121.0	105.0	111.0			-6.0	1.0	1		111	5,23,8226		0,0,5,10,3,4109	no	codingComplex	SLC27A3	NM_024330.1		0,0,13,17,5,6224	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3392,0.5629,0.4154			153751860	13,39,12466	2203	4300	6503	SO:0001589	frameshift_variant	0			BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1927delC	1.37:g.153751860delC	ENSP00000357650:p.Pro644fs		Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Frame_Shift_Del	DEL	pfam_AMP-dep_Synth/Lig	p.H645fs	ENST00000368661.3	37	c.1927	CCDS1053.1	1																																																																																			SLC27A3	-	NULL	ENSG00000143554		0.617	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A3	HGNC	protein_coding			0.00	68	0	C	NM_024330		153751860	+1	tier1		no_errors	ENST00000368661	ensembl	human	known	74_37	frame_shift_del	39.71	41	27	DEL	0.247	-
SLC29A1	2030	genome.wustl.edu	37	6	44195073	44195073	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:44195073A>G	ENST00000393841.1	+	3	514	c.23A>G	c.(22-24)cAg>cGg	p.Q8R	SLC29A1_ENST00000371731.1_Missense_Mutation_p.Q8R|SLC29A1_ENST00000313248.7_Missense_Mutation_p.Q87R|SLC29A1_ENST00000427851.2_Missense_Mutation_p.Q8R|SLC29A1_ENST00000371755.3_Missense_Mutation_p.Q8R|SLC29A1_ENST00000371708.1_Missense_Mutation_p.Q8R|SLC29A1_ENST00000371713.1_Missense_Mutation_p.Q8R|SLC29A1_ENST00000371724.1_Missense_Mutation_p.Q8R|SLC29A1_ENST00000393844.1_Missense_Mutation_p.Q8R|SLC29A1_ENST00000371740.5_Missense_Mutation_p.Q8R	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	8					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	CACCAGCCTCAGGACAGGTAA	0.602																																																	0													111.0	94.0	100.0					6																	44195073		2203	4300	6503	SO:0001583	missense	0			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.23A>G	6.37:g.44195073A>G	ENSP00000377424:p.Gln8Arg		B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.Q87R	ENST00000393841.1	37	c.260	CCDS4908.1	6	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675765	0.29783	.	.	ENSG00000112759	ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01	4.68	4.68	0.58851	.	0.514651	0.14796	U	0.297936	T	0.26376	0.0644	N	0.16790	0.44	0.38933	D	0.95799	B;B;B	0.19445	0.003;0.036;0.003	B;B;B	0.17098	0.009;0.017;0.006	T	0.09058	-1.0692	10	0.18710	T	0.47	-9.1698	10.7102	0.45980	1.0:0.0:0.0:0.0	.	8;87;8	B7Z1J8;B3KQV7;Q99808	.;.;S29A1_HUMAN	R	8;87;8;8;8;8;8;8;8;8	ENSP00000377427:Q8R;ENSP00000319152:Q87R;ENSP00000392668:Q8R;ENSP00000360820:Q8R;ENSP00000360805:Q8R;ENSP00000360796:Q8R;ENSP00000377424:Q8R;ENSP00000360789:Q8R;ENSP00000360778:Q8R;ENSP00000360773:Q8R	ENSP00000319152:Q87R	Q	+	2	0	SLC29A1	44303051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.282000	0.51693	2.088000	0.63022	0.528000	0.53228	CAG	SLC29A1	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000112759		0.602	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	HGNC	protein_coding	OTTHUMT00000040721.1	-	0.00	86	0	A			44195073	+1	tier1	-	no_errors	ENST00000313248	ensembl	human	known	74_37	missense	32.31	44	21	SNP	1.000	G
SLC29A3	55315	genome.wustl.edu	37	10	73111425	73111425	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:73111425delT	ENST00000373189.5	+	4	542	c.490delT	c.(490-492)tttfs	p.F165fs		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	165					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GACCCGTGGCTTTTTTGCGGT	0.557																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)												0													209.0	154.0	173.0					10																	73111425		2203	4300	6503	SO:0001589	frameshift_variant	0			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.490delT	10.37:g.73111425delT	ENSP00000362285:p.Phe165fs		B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Frame_Shift_Del	DEL	pfam_Eqnu_transpt,prints_Eqnu_transpt	p.F165fs	ENST00000373189.5	37	c.490	CCDS7310.1	10																																																																																			SLC29A3	-	NULL	ENSG00000198246		0.557	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A3	HGNC	protein_coding	OTTHUMT00000048544.1		0.00	105	0	T	NM_018344		73111425	+1	tier1		no_errors	ENST00000373189	ensembl	human	known	74_37	frame_shift_del	39.05	64	41	DEL	1.000	-
SLC2A4RG	56731	genome.wustl.edu	37	20	62374476	62374476	+	3'UTR	DEL	G	G	-	rs112038663		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:62374476delG	ENST00000266077.2	+	0	1349				SLC2A4RG_ENST00000493772.1_3'UTR|RP4-583P15.10_ENST00000433905.2_RNA|RP4-583P15.10_ENST00000447343.2_RNA	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					TACTTGGGGTGGGGGGGCGGG	0.652																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520			15930	protein-coding gene	gene with protein product	"""GLUT4 enhancer factor"", ""Huntington's disease gene regulatory region-binding protein 1"""	609493				10825161	Standard	NM_020062		Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.*133G>-	20.37:g.62374476delG			Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	RNA	DEL	-	NULL	ENST00000266077.2	37	NULL	CCDS13537.1	20																																																																																			SLC2A4RG	-	-	ENSG00000125520		0.652	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A4RG	HGNC	protein_coding	OTTHUMT00000080202.1		0.00	8	0	G	NM_020062		62374476	+1	tier1		no_errors	ENST00000473157	ensembl	human	known	74_37	rna	60.00	2	3	DEL	0.000	-
SLC32A1	140679	genome.wustl.edu	37	20	37356883	37356883	+	Silent	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:37356883C>A	ENST00000217420.1	+	2	1442	c.1179C>A	c.(1177-1179)tcC>tcA	p.S393S		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	393					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGCTGTTGTCCTATCCTCTGC	0.627																																																	0													81.0	78.0	79.0					20																	37356883		2203	4300	6503	SO:0001819	synonymous_variant	0			AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1179C>A	20.37:g.37356883C>A			Q8N489	Silent	SNP	pfam_AA_transpt_TM	p.S393	ENST00000217420.1	37	c.1179	CCDS13307.1	20																																																																																			SLC32A1	-	pfam_AA_transpt_TM	ENSG00000101438		0.627	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC32A1	HGNC	protein_coding	OTTHUMT00000079206.1	-	0.00	52	0	C	NM_080552		37356883	+1	tier1	-	no_errors	ENST00000217420	ensembl	human	known	74_37	silent	40.00	18	12	SNP	0.996	A
SLC35E1	79939	genome.wustl.edu	37	19	16666161	16666161	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:16666161G>A	ENST00000595753.1	-	5	821	c.804C>T	c.(802-804)agC>agT	p.S268S	CTD-3222D19.2_ENST00000409035.1_Intron	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	268					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						TACAGAAGCCGCTGACAGCCA	0.572																																																	0													65.0	52.0	56.0					19																	16666161		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"""Solute carriers"""	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.804C>T	19.37:g.16666161G>A			Q8NBQ2|Q96JV7	Silent	SNP	pfam_Tpt_PEP_trans_dom,pfam_DMT,pfam_UAA	p.S268	ENST00000595753.1	37	c.804	CCDS12346.2	19																																																																																			SLC35E1	-	pfam_Tpt_PEP_trans_dom,pfam_UAA	ENSG00000127526		0.572	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35E1	HGNC	protein_coding	OTTHUMT00000326809.2	-	0.00	81	0	G	NM_024881		16666161	-1	tier1	-	no_errors	ENST00000595753	ensembl	human	known	74_37	silent	26.53	36	13	SNP	0.328	A
SLC35E3	55508	genome.wustl.edu	37	12	69145920	69145920	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:69145920C>T	ENST00000398004.2	+	3	894	c.622C>T	c.(622-624)Cca>Tca	p.P208S		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	208						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			CTTCTTTGAGCCAGTGTTTGG	0.423																																																	0													263.0	248.0	253.0					12																	69145920		1991	4171	6162	SO:0001583	missense	0			AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"""Solute carriers"""	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	ENST00000398004.2:c.622C>T	12.37:g.69145920C>T	ENSP00000381089:p.Pro208Ser		A8K0T0|Q0P5Y5|Q9P0V1	Missense_Mutation	SNP	pfam_Tpt_PEP_trans_dom,pfam_DMT	p.P208S	ENST00000398004.2	37	c.622	CCDS41808.1	12	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776016	0.70107	.	.	ENSG00000175782	ENST00000398004;ENST00000431174	T;T	0.62364	0.03;1.23	5.59	5.59	0.84812	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	T	0.78000	0.4215	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.75448	-0.3314	9	.	.	.	0.1019	19.9688	0.97277	0.0:1.0:0.0:0.0	.	208	Q7Z769	S35E3_HUMAN	S	208;18	ENSP00000381089:P208S;ENSP00000403769:P18S	.	P	+	1	0	SLC35E3	67432187	1.000000	0.71417	0.999000	0.59377	0.859000	0.49053	7.487000	0.81328	2.809000	0.96659	0.555000	0.69702	CCA	SLC35E3	-	pfam_Tpt_PEP_trans_dom,pfam_DMT	ENSG00000175782		0.423	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35E3	HGNC	protein_coding	OTTHUMT00000403241.1	-	0.00	168	0	C	NM_018656		69145920	+1	tier1	-	no_errors	ENST00000398004	ensembl	human	known	74_37	missense	31.93	112	53	SNP	1.000	T
SLC35F1	222553	genome.wustl.edu	37	6	118596719	118596719	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:118596719C>T	ENST00000360388.4	+	5	936	c.735C>T	c.(733-735)agC>agT	p.S245S		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	245					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GAACTCTGAGCCGAGTGGAAT	0.423																																																	0													113.0	111.0	112.0					6																	118596719		2203	4300	6503	SO:0001819	synonymous_variant	0			BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.735C>T	6.37:g.118596719C>T			E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Silent	SNP	pfam_SLC35_F1/F2/F6,pfam_DMT	p.S245	ENST00000360388.4	37	c.735	CCDS34524.1	6																																																																																			SLC35F1	-	pfam_SLC35_F1/F2/F6,pfam_DMT	ENSG00000196376		0.423	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F1	HGNC	protein_coding	OTTHUMT00000041991.2	-	0.00	108	0	C	XM_167044		118596719	+1	tier1	-	no_errors	ENST00000360388	ensembl	human	known	74_37	silent	26.80	71	26	SNP	1.000	T
SLC35F5	80255	genome.wustl.edu	37	2	114500277	114500278	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:114500277_114500278delAA	ENST00000245680.2	-	7	1154_1155	c.741_742delTT	c.(739-744)ttttgcfs	p.FC247fs	SLC35F5_ENST00000409342.1_Frame_Shift_Del_p.FC241fs	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	247					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.C248fs*22(2)|p.?(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						ACCACAAAGCAAAAAAAAAAGC	0.342																																																	3	Deletion - Frameshift(2)|Unknown(1)	ovary(2)|skin(1)																																								SO:0001589	frameshift_variant	0			AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.741_742delTT	2.37:g.114500285_114500286delAA	ENSP00000245680:p.Phe247fs		Q9H6P8|Q9H7D8	Frame_Shift_Del	DEL	pfam_DMT	p.F247fs	ENST00000245680.2	37	c.742_741	CCDS2119.1	2																																																																																			SLC35F5	-	pfam_DMT	ENSG00000115084		0.342	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35F5	HGNC	protein_coding	OTTHUMT00000254150.1		0.00	30	0	AA	NM_025181		114500278	-1			no_errors	ENST00000245680	ensembl	human	known	74_37	frame_shift_del	39.39	20	13	DEL	1.000:1.000	0
SLC35G2	80723	genome.wustl.edu	37	3	136573486	136573486	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:136573486delA	ENST00000446465.2	+	2	812	c.184delA	c.(184-186)aaafs	p.K64fs	RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Frame_Shift_Del_p.K64fs|RP11-85F14.5_ENST00000474250.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		GAGTGAAATGAAAAAAAAAGG	0.413																																																	0													88.0	99.0	95.0					3																	136573486		2203	4300	6503	SO:0001589	frameshift_variant	0			BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.184delA	3.37:g.136573486delA	ENSP00000400839:p.Lys64fs			Frame_Shift_Del	DEL	pfam_DMT	p.66fs	ENST00000446465.2	37	c.184	CCDS3091.1	3																																																																																			SLC35G2	-	NULL	ENSG00000168917		0.413	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G2	HGNC	protein_coding	OTTHUMT00000357317.1		0.00	24	0	A	NM_025246		136573486	+1	tier1		no_errors	ENST00000393079	ensembl	human	known	74_37	frame_shift_del	63.33	11	19	DEL	1.000	-
SLC38A8	146167	genome.wustl.edu	37	16	84050327	84050327	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:84050327A>G	ENST00000299709.3	-	8	958	c.959T>C	c.(958-960)gTg>gCg	p.V320A		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	320					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTCCTGCATCACTGACCTGGA	0.672																																																	0													36.0	40.0	39.0					16																	84050327		2198	4300	6498	SO:0001583	missense	0				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.959T>C	16.37:g.84050327A>G	ENSP00000299709:p.Val320Ala			Missense_Mutation	SNP	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.V320A	ENST00000299709.3	37	c.959	CCDS32495.1	16	.	.	.	.	.	.	.	.	.	.	A	10.67	1.416700	0.25552	.	.	ENSG00000166558	ENST00000299709	T	0.02258	4.37	4.36	4.36	0.52297	.	0.214335	0.40640	N	0.001049	T	0.06735	0.0172	L	0.59912	1.85	0.58432	D	0.999999	D	0.76494	0.999	D	0.72338	0.977	T	0.36163	-0.9759	10	0.02654	T	1	.	11.0731	0.48014	1.0:0.0:0.0:0.0	.	320	A6NNN8	S38A8_HUMAN	A	320	ENSP00000299709:V320A	ENSP00000299709:V320A	V	-	2	0	SLC38A8	82607828	1.000000	0.71417	0.994000	0.49952	0.200000	0.23975	7.582000	0.82546	1.616000	0.50265	0.391000	0.25812	GTG	SLC38A8	-	pfam_AA_transpt_TM	ENSG00000166558		0.672	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	SLC38A8	HGNC	protein_coding	OTTHUMT00000432623.1	-	0.00	23	0	A	NM_001080442		84050327	-1	tier1	-	no_errors	ENST00000299709	ensembl	human	known	74_37	missense	47.37	10	9	SNP	1.000	G
SLC39A4	55630	genome.wustl.edu	37	8	145639157	145639157	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:145639157delG	ENST00000301305.3	-	8	1501	c.1396delC	c.(1396-1398)cacfs	p.H466fs	SLC39A4_ENST00000531013.1_5'Flank|SLC39A4_ENST00000276833.5_Frame_Shift_Del_p.H441fs	NM_130849.2	NP_570901	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	466					cellular response to zinc ion starvation (GO:0034224)|cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GAGCCCTCGTGGGGGGGCTTG	0.751																																																	0									,	4,4042		0,4,2019					,	0.5	0.0			7	24,7896		1,22,3937	no	frameshift,frameshift	SLC39A4	NM_130849.2,NM_017767.2	,	1,26,5956	A1A1,A1R,RR		0.303,0.0989,0.234	,	,		28,11938				SO:0001589	frameshift_variant	0			AK025537	CCDS6424.1, CCDS43782.1	8q24.3	2013-05-22			ENSG00000147804	ENSG00000147804		"""Solute carriers"""	17129	protein-coding gene	gene with protein product		607059	"""acrodermatitis enteropathica, zinc-deficiency type"""	AEZ		12801924, 12659941, 14709598	Standard	NM_017767		Approved	ZIP4, AWMS2	uc003zcq.3	Q6P5W5		ENST00000301305.3:c.1396delC	8.37:g.145639157delG	ENSP00000301305:p.His466fs		Q7L5S5|Q9H6T8|Q9NXC4	Frame_Shift_Del	DEL	pfam_ZIP	p.H466fs	ENST00000301305.3	37	c.1396	CCDS6424.1	8																																																																																			SLC39A4	-	pfam_ZIP	ENSG00000147804		0.751	SLC39A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A4	HGNC	protein_coding	OTTHUMT00000382688.1		0.00	16	0	G			145639157	-1	tier1		no_errors	ENST00000301305	ensembl	human	known	74_37	frame_shift_del	39.29	17	11	DEL	0.122	-
SLC39A6	25800	genome.wustl.edu	37	18	33706271	33706271	+	Silent	SNP	G	G	T	rs369018375		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:33706271G>T	ENST00000590986.1	-	2	989	c.700C>A	c.(700-702)Cgg>Agg	p.R234R	SLC39A6_ENST00000269187.5_Silent_p.R234R|SLC39A6_ENST00000440549.2_Intron			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	234					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						CCAGCCAGCCGGCTCACCCGG	0.468																																																	0													140.0	136.0	137.0					18																	33706271		1865	4082	5947	SO:0001819	synonymous_variant	0			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.700C>A	18.37:g.33706271G>T			B4DR49|B4E224|Q8IXR3|Q96HP5	Silent	SNP	pfam_ZIP	p.R234	ENST00000590986.1	37	c.700	CCDS42428.1	18																																																																																			SLC39A6	-	NULL	ENSG00000141424		0.468	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SLC39A6	HGNC	protein_coding	OTTHUMT00000444136.1	-	0.00	71	0	G			33706271	-1	tier1	-	no_errors	ENST00000269187	ensembl	human	known	74_37	silent	5.68	83	5	SNP	0.000	T
SLC41A2	84102	genome.wustl.edu	37	12	105198777	105198777	+	3'UTR	DEL	A	A	-	rs537277458		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:105198777delA	ENST00000258538.3	-	0	2002				SLC41A2_ENST00000549713.1_5'UTR	NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						CAAATTCCTTAAAAAAAAATT	0.323																																					Esophageal Squamous(195;176 2919 4272 35572)												0																																										SO:0001624	3_prime_UTR_variant	0			BC036734	CCDS9100.2	12q24.11	2013-07-17	2013-07-17		ENSG00000136052	ENSG00000136052		"""Solute carriers"""	31045	protein-coding gene	gene with protein product		610802	"""solute carrier family 41, member 2"""				Standard	NM_032148		Approved	DKFZP434K0427	uc001tla.3	Q96JW4	OTTHUMG00000156965	ENST00000258538.3:c.*153T>-	12.37:g.105198777delA			Q3KP68|Q9H0E5	RNA	DEL	-	NULL	ENST00000258538.3	37	NULL	CCDS9100.2	12																																																																																			SLC41A2	-	-	ENSG00000136052		0.323	SLC41A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC41A2	HGNC	protein_coding	OTTHUMT00000346850.3		0.00	33	0	A	NM_032148		105198777	-1	tier1		no_errors	ENST00000549713	ensembl	human	known	74_37	rna	34.38	21	11	DEL	0.849	-
SLC44A2	57153	genome.wustl.edu	37	19	10745884	10745886	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:10745884_10745886delCTT	ENST00000335757.5	+	13	1477_1479	c.1101_1103delCTT	c.(1099-1104)accttc>acc	p.F369del	SLC44A2_ENST00000586078.1_In_Frame_Del_p.F369del|SLC44A2_ENST00000407327.4_In_Frame_Del_p.F367del			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	369					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CACTGGTCACCTTCTTCTTGCTG	0.557																																																	0									,	1,4263		0,1,2131					,	4.6	1.0			174	1,8251		0,1,4125	no	coding,coding	SLC44A2	NM_020428.3,NM_001145056.1	,	0,2,6256	A1A1,A1R,RR		0.0121,0.0235,0.016	,	,		2,12514				SO:0001651	inframe_deletion	0			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1101_1103delCTT	19.37:g.10745890_10745892delCTT	ENSP00000336888:p.Phe369del		B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	In_Frame_Del	DEL	pfam_Choline_transptr-like	p.F369in_frame_del	ENST00000335757.5	37	c.1101_1103	CCDS12245.1	19																																																																																			SLC44A2	-	pfam_Choline_transptr-like	ENSG00000129353		0.557	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A2	HGNC	protein_coding	OTTHUMT00000452045.1		0.00	162	0	CTT			10745886	+1	tier1		no_errors	ENST00000335757	ensembl	human	known	74_37	in_frame_del	47.18	75	67	DEL	1.000:1.000:1.000	-
SLC44A4	80736	genome.wustl.edu	37	6	31838592	31838592	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:31838592C>A	ENST00000229729.6	-	10	954	c.934G>T	c.(934-936)Gcc>Tcc	p.A312S	SLC44A4_ENST00000375562.4_Missense_Mutation_p.A270S|SLC44A4_ENST00000544672.1_Missense_Mutation_p.A236S	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	312					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CACTCACGGGCGGCCAGCCAG	0.692																																																	0													45.0	41.0	43.0					6																	31838592		1510	2707	4217	SO:0001583	missense	0			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.934G>T	6.37:g.31838592C>A	ENSP00000229729:p.Ala312Ser		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.A312S	ENST00000229729.6	37	c.934	CCDS4724.2	6	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258483	0.39896	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.22336	1.96;1.96;1.96	4.38	4.38	0.52667	.	0.211492	0.41938	D	0.000783	T	0.12220	0.0297	M	0.69823	2.125	0.23056	N	0.998361	B;B	0.14805	0.011;0.002	B;B	0.19946	0.016;0.027	T	0.05716	-1.0868	10	0.59425	D	0.04	.	9.9245	0.41483	0.0:0.9042:0.0:0.0958	.	270;312	E9PEK7;Q53GD3	.;CTL4_HUMAN	S	312;270;236	ENSP00000229729:A312S;ENSP00000364712:A270S;ENSP00000444109:A236S	ENSP00000229729:A312S	A	-	1	0	SLC44A4	31946571	0.535000	0.26370	0.181000	0.23098	0.802000	0.45316	1.641000	0.37197	2.445000	0.82738	0.561000	0.74099	GCC	SLC44A4	-	pfam_Choline_transptr-like	ENSG00000204385		0.692	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC44A4	HGNC	protein_coding	OTTHUMT00000076234.3	-	0.00	27	0	C			31838592	-1	tier1	-	no_errors	ENST00000229729	ensembl	human	known	74_37	missense	76.92	6	20	SNP	0.470	A
SLC45A4	57210	genome.wustl.edu	37	8	142222358	142222358	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:142222358G>A	ENST00000024061.3	-	7	2393	c.2086C>T	c.(2086-2088)Ccc>Tcc	p.P696S	SLC45A4_ENST00000517878.1_Missense_Mutation_p.P747S|SLC45A4_ENST00000433583.2_Missense_Mutation_p.P689S|SLC45A4_ENST00000519067.1_Missense_Mutation_p.P696S	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGCACGGTGGGCTTTTCGCTG	0.632																																																	0													36.0	32.0	33.0					8																	142222358		2202	4300	6502	SO:0001583	missense	0			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.2086C>T	8.37:g.142222358G>A	ENSP00000024061:p.Pro696Ser		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.P747S	ENST00000024061.3	37	c.2239	CCDS34948.1	8	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295412	0.60086	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.33654	1.6;1.47;1.53;1.4	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	L	0.57536	1.79	0.46499	D	0.999076	D;D;D	0.67145	0.958;0.996;0.996	B;D;D	0.64237	0.386;0.923;0.923	T	0.59700	-0.7405	10	0.87932	D	0	-35.3184	18.9005	0.92440	0.0:0.0:1.0:0.0	.	747;696;696	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	S	696;747;689;696	ENSP00000429059:P696S;ENSP00000428137:P747S;ENSP00000400799:P689S;ENSP00000024061:P696S	ENSP00000024061:P696S	P	-	1	0	SLC45A4	142291540	1.000000	0.71417	0.997000	0.53966	0.069000	0.16628	4.380000	0.59581	2.453000	0.82957	0.655000	0.94253	CCC	SLC45A4	-	NULL	ENSG00000022567		0.632	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	HGNC	protein_coding	OTTHUMT00000378571.3	-	0.00	36	0	G	XM_050325		142222358	-1	tier1	-	no_errors	ENST00000517878	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	A
SLC45A4	57210	genome.wustl.edu	37	8	142221559	142221559	+	Silent	SNP	G	G	C	rs371876151		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:142221559G>C	ENST00000024061.3	-	8	2686	c.2379C>G	c.(2377-2379)ggC>ggG	p.G793G	SLC45A4_ENST00000517878.1_3'UTR|SLC45A4_ENST00000433583.2_3'UTR|SLC45A4_ENST00000519067.1_3'UTR	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TTCTGCCCAGGCCCCCCGGAC	0.652																																																	0													45.0	51.0	49.0					8																	142221559		2203	4300	6503	SO:0001819	synonymous_variant	0			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.2379C>G	8.37:g.142221559G>C			Q6ZRI2|Q9ULU3	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.G793	ENST00000024061.3	37	c.2379	CCDS34948.1	8																																																																																			SLC45A4	-	NULL	ENSG00000022567		0.652	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A4	HGNC	protein_coding	OTTHUMT00000378571.3		0.00	25	0	G	XM_050325		142221559	-1			no_errors	ENST00000024061	ensembl	human	known	74_37	silent	26.32	14	5	SNP	0.000	C
SLC45A4	57210	genome.wustl.edu	37	8	142264119	142264119	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:142264119G>T	ENST00000517878.1	-	1	209	c.210C>A	c.(208-210)acC>acA	p.T70T	RP11-10J21.4_ENST00000517658.1_RNA|SLC45A4_ENST00000433583.2_Silent_p.T12T|RP11-10J21.3_ENST00000518520.1_5'Flank|SLC45A4_ENST00000521804.1_5'Flank			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	70					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGACCAGAGCGGTTTCCATGG	0.592																																																	0																																										SO:0001819	synonymous_variant	0			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000517878.1:c.210C>A	8.37:g.142264119G>T			Q6ZRI2|Q9ULU3	Silent	SNP	superfamily_MFS_dom_general_subst_transpt	p.T70	ENST00000517878.1	37	c.210		8																																																																																			SLC45A4	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000022567		0.592	SLC45A4-003	KNOWN	basic	protein_coding	SLC45A4	HGNC	protein_coding	OTTHUMT00000378931.1	-	0.00	44	0	G	XM_050325		142264119	-1	tier1	-	no_errors	ENST00000517878	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.387	T
SLC46A2	57864	genome.wustl.edu	37	9	115652623	115652623	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:115652623C>T	ENST00000374228.4	-	1	570	c.339G>A	c.(337-339)ctG>ctA	p.L113L		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	113					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GGAAGCCCAGCAGCGACATGC	0.657																																																	0													64.0	67.0	66.0					9																	115652623		2203	4298	6501	SO:0001819	synonymous_variant	0			AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.339G>A	9.37:g.115652623C>T			B1ALK1|Q86VT0|Q96NE2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG	p.L113	ENST00000374228.4	37	c.339	CCDS6786.1	9																																																																																			SLC46A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000119457		0.657	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC46A2	HGNC	protein_coding	OTTHUMT00000053702.1	-	0.00	25	0	C	NM_033051		115652623	-1	tier1	-	no_errors	ENST00000374228	ensembl	human	known	74_37	silent	23.08	10	3	SNP	1.000	T
SLC46A3	283537	genome.wustl.edu	37	13	29275067	29275067	+	3'UTR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:29275067C>T	ENST00000266943.6	-	0	2322				SLC46A3_ENST00000380814.4_3'UTR|RNU6-53P_ENST00000365367.1_RNA|SLC46A3_ENST00000475385.1_5'UTR	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3						transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		ATATAAGCTCCGACTATCAAT	0.313																																																	0													80.0	69.0	72.0					13																	29275067		692	1590	2282	SO:0001624	3_prime_UTR_variant	0				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.*567G>A	13.37:g.29275067C>T			Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	RNA	SNP	-	NULL	ENST00000266943.6	37	NULL	CCDS9332.1	13																																																																																			SLC46A3	-	-	ENSG00000139508		0.313	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	-	0.00	70	0	C	NM_181785		29275067	-1	tier1	-	no_errors	ENST00000475385	ensembl	human	known	74_37	rna	62.07	44	72	SNP	0.000	T
SLC47A2	146802	genome.wustl.edu	37	17	19618055	19618055	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:19618055T>C	ENST00000325411.5	-	3	323	c.273A>G	c.(271-273)gcA>gcG	p.A91A	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000350657.5_Silent_p.A91A	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	91					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	AGGTGTCACATGCCGAAGACA	0.562																																																	0													219.0	206.0	210.0					17																	19618055		2203	4300	6503	SO:0001819	synonymous_variant	0			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.273A>G	17.37:g.19618055T>C			A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Silent	SNP	pfam_MATE,tigrfam_MATE	p.A91	ENST00000325411.5	37	c.273	CCDS11211.1	17																																																																																			SLC47A2	-	pfam_MATE	ENSG00000180638		0.562	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	SLC47A2	HGNC	protein_coding	OTTHUMT00000132242.2	-	0.00	37	0	T	NM_152908		19618055	-1	tier1	-	no_errors	ENST00000325411	ensembl	human	known	74_37	silent	41.18	10	7	SNP	0.001	C
SLC5A4	6527	genome.wustl.edu	37	22	32625212	32625212	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:32625212C>A	ENST00000266086.4	-	11	1260	c.1249G>T	c.(1249-1251)Gcg>Tcg	p.A417S	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	417					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTCCGACGCTTGCTTCCGC	0.537																																																	0													175.0	166.0	169.0					22																	32625212		2203	4300	6503	SO:0001583	missense	0			U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1249G>T	22.37:g.32625212C>A	ENSP00000266086:p.Ala417Ser		O15279	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.A417S	ENST00000266086.4	37	c.1249	CCDS13903.1	22	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341929	0.61073	.	.	ENSG00000100191	ENST00000266086	D	0.89050	-2.46	4.55	4.55	0.56014	.	0.048936	0.85682	D	0.000000	D	0.92031	0.7475	M	0.81942	2.565	0.80722	D	1	P	0.40230	0.708	P	0.49477	0.612	D	0.91719	0.5387	10	0.41790	T	0.15	.	15.1699	0.72862	0.0:1.0:0.0:0.0	.	417	Q9NY91	SC5A4_HUMAN	S	417	ENSP00000266086:A417S	ENSP00000266086:A417S	A	-	1	0	SLC5A4	30955212	1.000000	0.71417	0.853000	0.33588	0.209000	0.24338	5.981000	0.70524	2.517000	0.84864	0.655000	0.94253	GCG	SLC5A4	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000100191		0.537	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A4	HGNC	protein_coding	OTTHUMT00000315724.1	-	0.00	108	0	C	NM_014227		32625212	-1	tier1	-	no_errors	ENST00000266086	ensembl	human	known	74_37	missense	35.85	68	38	SNP	0.999	A
SLC6A13	6540	genome.wustl.edu	37	12	333174	333174	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:333174A>G	ENST00000343164.4	-	11	1347	c.1295T>C	c.(1294-1296)cTg>cCg	p.L432P	SLC6A13_ENST00000445055.2_Missense_Mutation_p.L340P|SLC6A13_ENST00000539668.1_5'UTR	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	432					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGCATGATCAGCCCCACAAG	0.592																																																	0													95.0	84.0	87.0					12																	333174		2203	4300	6503	SO:0001583	missense	0			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1295T>C	12.37:g.333174A>G	ENSP00000339260:p.Leu432Pro		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.L432P	ENST00000343164.4	37	c.1295	CCDS8502.1	12	.	.	.	.	.	.	.	.	.	.	A	16.60	3.169833	0.57584	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164	T;T	0.81330	-1.48;-1.48	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.93579	0.7950	H	0.97852	4.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95869	0.8889	10	0.87932	D	0	.	15.2875	0.73838	1.0:0.0:0.0:0.0	.	340;411;432	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	P	340;411;432	ENSP00000407104:L340P;ENSP00000339260:L432P	ENSP00000318097:L411P	L	-	2	0	SLC6A13	203435	1.000000	0.71417	0.984000	0.44739	0.175000	0.22909	9.268000	0.95675	2.033000	0.60031	0.402000	0.26972	CTG	SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000010379		0.592	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1	-	0.00	39	0	A	NM_016615		333174	-1	tier1	-	no_errors	ENST00000343164	ensembl	human	known	74_37	missense	25.35	53	18	SNP	1.000	G
SLC5A8	160728	genome.wustl.edu	37	12	101603614	101603614	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:101603614G>A	ENST00000536262.2	-	1	571	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCGATGCCCCGTGGCGTGTCC	0.706																																					GBM(60;420 1056 13605 22380 47675)												0													17.0	15.0	16.0					12																	101603614		2099	4120	6219	SO:0001583	missense	0			AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.13C>T	12.37:g.101603614G>A	ENSP00000445340:p.Arg5Trp			Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.R5W	ENST00000536262.2	37	c.13	CCDS9080.1	12	.	.	.	.	.	.	.	.	.	.	G	17.47	3.397914	0.62177	.	.	ENSG00000256870	ENST00000536262	D	0.86164	-2.08	5.32	3.35	0.38373	.	0.264872	0.36555	N	0.002528	D	0.85071	0.5613	M	0.69358	2.11	0.09310	N	1	D	0.65815	0.995	B	0.44315	0.446	T	0.78797	-0.2063	10	0.66056	D	0.02	.	9.3355	0.38047	0.0:0.2274:0.5376:0.2351	.	5	Q8N695	SC5A8_HUMAN	W	5	ENSP00000445340:R5W	ENSP00000445340:R5W	R	-	1	2	SLC5A8	100127745	0.002000	0.14202	0.010000	0.14722	0.007000	0.05969	0.835000	0.27531	1.205000	0.43262	0.561000	0.74099	CGG	SLC5A8	-	NULL	ENSG00000256870		0.706	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A8	HGNC	protein_coding	OTTHUMT00000409401.1	-	0.00	41	0	G	NM_145913		101603614	-1	tier1	-	no_errors	ENST00000536262	ensembl	human	known	74_37	missense	52.94	8	9	SNP	0.012	A
SLC6A6	6533	genome.wustl.edu	37	3	14489314	14489314	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:14489314G>T	ENST00000454876.2	+	5	918	c.589G>T	c.(589-591)Gag>Tag	p.E197*	SLC6A6_ENST00000416216.2_Nonsense_Mutation_p.E197*|SLC6A6_ENST00000360861.3_Nonsense_Mutation_p.E197*|SLC6A6_ENST00000484191.1_3'UTR			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	197					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CCCTGTCATCGAGTTCTGGGA	0.562																																																	0													103.0	74.0	84.0					3																	14489314		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.589G>T	3.37:g.14489314G>T	ENSP00000398063:p.Glu197*		B2RNU7|Q9BRI2|Q9BXB0	Nonsense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine	p.E197*	ENST00000454876.2	37	c.589	CCDS33705.1	3	.	.	.	.	.	.	.	.	.	.	G	39	7.347638	0.98228	.	.	ENSG00000131389	ENST00000454876;ENST00000360861;ENST00000416216	.	.	.	4.59	4.59	0.56863	.	0.099077	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.775	0.88504	0.0:0.0:1.0:0.0	.	.	.	.	X	197	.	ENSP00000354107:E197X	E	+	1	0	SLC6A6	14464318	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.604000	0.98317	2.268000	0.75426	0.404000	0.27445	GAG	SLC6A6	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000131389		0.562	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A6	HGNC	protein_coding	OTTHUMT00000340507.1		0.00	33	0	G	NM_003043		14489314	+1			no_errors	ENST00000360861	ensembl	human	known	74_37	nonsense	7.69	24	2	SNP	1.000	T
SLC7A6OS	84138	genome.wustl.edu	37	16	68337955	68337955	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:68337955G>T	ENST00000263997.6	-	3	670	c.652C>A	c.(652-654)Cag>Aag	p.Q218K		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	218					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		CTGTAGGGCTGCACGGAGAGG	0.512																																																	0													120.0	106.0	111.0					16																	68337955		2198	4300	6498	SO:0001583	missense	0				CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.652C>A	16.37:g.68337955G>T	ENSP00000263997:p.Gln218Lys		Q8TCZ3|Q9H8R8	Missense_Mutation	SNP	NULL	p.Q218K	ENST00000263997.6	37	c.652	CCDS10865.1	16	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113876	0.77210	.	.	ENSG00000103061	ENST00000263997	T	0.18338	2.22	5.79	5.79	0.91817	.	0.111143	0.64402	D	0.000006	T	0.22205	0.0535	L	0.46885	1.475	0.44539	D	0.997495	D	0.55800	0.973	P	0.50405	0.64	T	0.01596	-1.1316	10	0.05721	T	0.95	-18.6857	17.528	0.87807	0.0:0.0:1.0:0.0	.	218	Q96CW6	S7A6O_HUMAN	K	218	ENSP00000263997:Q218K	ENSP00000263997:Q218K	Q	-	1	0	SLC7A6OS	66895456	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.561000	0.53770	2.753000	0.94483	0.555000	0.69702	CAG	SLC7A6OS	-	NULL	ENSG00000103061		0.512	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A6OS	HGNC	protein_coding	OTTHUMT00000268894.3	-	0.00	107	0	G	NM_032178		68337955	-1	tier1	-	no_errors	ENST00000263997	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
SLC7A7	9056	genome.wustl.edu	37	14	23243319	23243319	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:23243319C>T	ENST00000397532.3	-	9	1777	c.1252G>A	c.(1252-1254)Gtt>Att	p.V418I	SLC7A7_ENST00000555702.1_Missense_Mutation_p.V418I|SLC7A7_ENST00000285850.7_Missense_Mutation_p.V418I|SLC7A7_ENST00000397528.4_Missense_Mutation_p.V418I|SLC7A7_ENST00000397529.2_Missense_Mutation_p.V418I|SLC7A7_ENST00000554517.1_Missense_Mutation_p.V152I|SLC7A7_ENST00000554061.1_5'UTR			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	418					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GGGAAGAAAACGCTGAGCTAA	0.488																																																	0													122.0	120.0	120.0					14																	23243319		2203	4300	6503	SO:0001583	missense	0			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1252G>A	14.37:g.23243319C>T	ENSP00000380666:p.Val418Ile		B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.V418I	ENST00000397532.3	37	c.1252	CCDS9574.1	14	.	.	.	.	.	.	.	.	.	.	C	9.385	1.073998	0.20147	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517	D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	6.13	-0.816	0.10839	.	0.182135	0.48767	N	0.000161	T	0.67887	0.2941	N	0.00754	-1.215	0.26308	N	0.97788	B	0.06786	0.001	B	0.06405	0.002	T	0.63708	-0.6576	10	0.38643	T	0.18	.	6.7673	0.23575	0.0643:0.0954:0.3856:0.4547	.	418	Q9UM01	YLAT1_HUMAN	I	418;418;418;391;418;418;152	ENSP00000285850:V418I;ENSP00000451881:V418I;ENSP00000380666:V418I;ENSP00000380663:V418I;ENSP00000380662:V418I;ENSP00000452083:V152I	ENSP00000285850:V418I	V	-	1	0	SLC7A7	22313159	0.991000	0.36638	0.790000	0.31976	0.193000	0.23685	0.266000	0.18534	-0.046000	0.13446	-1.284000	0.01376	GTT	SLC7A7	-	pirsf_AA/rel_permease1	ENSG00000155465		0.488	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A7	HGNC	protein_coding	OTTHUMT00000071636.3	-	0.00	23	0	C			23243319	-1	tier1	-	no_errors	ENST00000285850	ensembl	human	known	74_37	missense	20.59	27	7	SNP	0.923	T
SLC9A2	6549	genome.wustl.edu	37	2	103324746	103324746	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:103324746delC	ENST00000233969.2	+	12	2379	c.2237delC	c.(2236-2238)accfs	p.T746fs		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	746					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ATGCCCAGCACCCCCCCAACA	0.527																																																	0													140.0	151.0	147.0					2																	103324746		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2237delC	2.37:g.103324746delC	ENSP00000233969:p.Thr746fs		B2RMS2	Frame_Shift_Del	DEL	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.P748fs	ENST00000233969.2	37	c.2237	CCDS2062.1	2																																																																																			SLC9A2	-	prints_Na/H_exchanger_2	ENSG00000115616		0.527	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2		0.00	42	0	C			103324746	+1	tier1		no_errors	ENST00000233969	ensembl	human	known	74_37	frame_shift_del	25.53	35	12	DEL	0.000	-
SLC9A8	23315	genome.wustl.edu	37	20	48467300	48467301	+	Intron	INS	-	-	T	rs564652819		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:48467300_48467301insT	ENST00000361573.2	+	7	576				SLC9A8_ENST00000539601.1_Intron|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000417961.1_Splice_Site_p.GF179fs			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8						ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			GTTCTCCAGGGTTTTTTTTTTG	0.337																																																	0																																										SO:0001627	intron_variant	0			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.535-46->T	20.37:g.48467310_48467310dupT			B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Frame_Shift_Ins	INS	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.F183fs	ENST00000361573.2	37	c.536_537	CCDS13421.1	20																																																																																			SLC9A8	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000197818		0.337	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A8	HGNC	protein_coding	OTTHUMT00000106483.3		0.00	18	0	-	XM_030524		48467301	+1	tier1		no_errors	ENST00000417961	ensembl	human	known	74_37	frame_shift_ins	18.75	13	3	INS	0.284:0.189	T
SLC9A8	23315	genome.wustl.edu	37	20	48467301	48467301	+	Intron	DEL	T	T	-	rs564652819		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:48467301delT	ENST00000361573.2	+	7	576				SLC9A8_ENST00000539601.1_Intron|SLC9A8_ENST00000541138.1_Intron|SLC9A8_ENST00000417961.1_Frame_Shift_Del_p.G179fs			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8						ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTCTCCAGGGTTTTTTTTTTG	0.333																																																	0										105,169,3990		0,0,105,2,165,1860	46.0	46.0	46.0			3.5	0.9	20		47	200,298,7756		0,0,200,6,286,3635	no	intron	SLC9A8	NM_015266.1		0,0,305,8,451,5495	A1A1,A1A2,A1R,A2A2,A2R,RR		6.0334,6.4259,6.1671			48467301	305,467,11746	2203	4300	6503	SO:0001627	intron_variant	0			AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.535-46T>-	20.37:g.48467301delT			B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Frame_Shift_Del	DEL	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.F182fs	ENST00000361573.2	37	c.537	CCDS13421.1	20																																																																																			SLC9A8	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000197818		0.333	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A8	HGNC	protein_coding	OTTHUMT00000106483.3		0.00	18	0	T	XM_030524		48467301	+1	tier1		no_errors	ENST00000417961	ensembl	human	known	74_37	frame_shift_del	31.25	11	5	DEL	0.189	-
SLC9C1	285335	genome.wustl.edu	37	3	112005610	112005610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:112005610delA	ENST00000305815.5	-	2	281	c.29delT	c.(28-30)ttcfs	p.F10fs	SLC9C1_ENST00000487372.1_Frame_Shift_Del_p.F10fs|SLC9C1_ENST00000467397.1_5'UTR	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	10					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CTCAGTACTGAAAAAAAACTC	0.353																																																	0													57.0	58.0	58.0					3																	112005610		2203	4297	6500	SO:0001589	frameshift_variant	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.29delT	3.37:g.112005610delA	ENSP00000306627:p.Phe10fs		Q6ZRP4|Q7RTP2	Frame_Shift_Del	DEL	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.F10fs	ENST00000305815.5	37	c.29	CCDS33817.1	3																																																																																			SLC9C1	-	NULL	ENSG00000172139		0.353	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1		0.00	40	0	A	NM_183061		112005610	-1	tier1		no_errors	ENST00000305815	ensembl	human	known	74_37	frame_shift_del	24.32	28	9	DEL	0.000	-
SLCO2A1	6578	genome.wustl.edu	37	3	133670083	133670083	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:133670083delA	ENST00000310926.4	-	6	1103	c.830delT	c.(829-831)ttcfs	p.F278fs	SLCO2A1_ENST00000493729.1_Frame_Shift_Del_p.F202fs	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	278					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TCGAGGGAAGAAAAAAAAGGG	0.493																																																	0													84.0	92.0	89.0					3																	133670083		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.830delT	3.37:g.133670083delA	ENSP00000311291:p.Phe278fs		Q86V98|Q8IUN2	Frame_Shift_Del	DEL	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.F277fs	ENST00000310926.4	37	c.830	CCDS3084.1	3																																																																																			SLCO2A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000174640		0.493	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1		0.00	34	0	A	NM_005630		133670083	-1	tier1		no_errors	ENST00000310926	ensembl	human	known	74_37	frame_shift_del	38.10	13	8	DEL	1.000	-
SLCO3A1	28232	genome.wustl.edu	37	15	92690355	92690355	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:92690355A>G	ENST00000318445.6	+	8	1868	c.1654A>G	c.(1654-1656)Atg>Gtg	p.M552V	SLCO3A1_ENST00000555549.1_3'UTR|RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.M552V	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	552					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GATCGGTGCCATGGCACAGAC	0.582																																																	0													133.0	108.0	116.0					15																	92690355		2198	4298	6496	SO:0001583	missense	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1654A>G	15.37:g.92690355A>G	ENSP00000320634:p.Met552Val		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.M552V	ENST00000318445.6	37	c.1654	CCDS10371.1	15	.	.	.	.	.	.	.	.	.	.	A	11.35	1.611990	0.28712	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.80653	-1.4;-1.4	6.03	6.03	0.97812	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.84165	0.5412	L	0.38733	1.17	0.80722	D	1	P;D;B	0.58268	0.94;0.982;0.083	P;D;B	0.68943	0.465;0.961;0.089	T	0.81046	-0.1110	10	0.21540	T	0.41	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	494;552;552	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	V	552;552;271	ENSP00000320634:M552V;ENSP00000387846:M552V	ENSP00000320634:M552V	M	+	1	0	SLCO3A1	90491359	1.000000	0.71417	0.995000	0.50966	0.947000	0.59692	8.740000	0.91579	2.308000	0.77769	0.533000	0.62120	ATG	SLCO3A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	ENSG00000176463		0.582	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	HGNC	protein_coding	OTTHUMT00000313529.1	-	0.00	51	0	A	NM_013272		92690355	+1	tier1	-	no_errors	ENST00000318445	ensembl	human	known	74_37	missense	40.00	39	26	SNP	1.000	G
SLCO5A1	81796	genome.wustl.edu	37	8	70617403	70617403	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:70617403delT	ENST00000260126.4	-	6	2191	c.1485delA	c.(1483-1485)aaafs	p.K495fs	SLCO5A1_ENST00000530307.1_Frame_Shift_Del_p.K440fs|SLCO5A1_ENST00000524945.1_Frame_Shift_Del_p.K495fs	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	495						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CAAGTTTCAATTTTTTTATAA	0.408																																																	0													82.0	83.0	83.0					8																	70617403		2203	4300	6503	SO:0001589	frameshift_variant	0			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1485delA	8.37:g.70617403delT	ENSP00000260126:p.Lys495fs		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Frame_Shift_Del	DEL	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.K495fs	ENST00000260126.4	37	c.1485	CCDS6205.1	8																																																																																			SLCO5A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000137571		0.408	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO5A1	HGNC	protein_coding	OTTHUMT00000381990.3		0.00	59	0	T	NM_030958		70617403	-1	tier1		no_errors	ENST00000260126	ensembl	human	known	74_37	frame_shift_del	16.22	62	12	DEL	1.000	-
SLFN13	146857	genome.wustl.edu	37	17	33767862	33767862	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:33767862C>T	ENST00000285013.6	-	6	2721	c.2446G>A	c.(2446-2448)Gtg>Atg	p.V816M	SLFN13_ENST00000360502.2_Missense_Mutation_p.V498M|SLFN13_ENST00000542635.1_Missense_Mutation_p.V816M|SLFN13_ENST00000526861.1_Missense_Mutation_p.V816M|SLFN13_ENST00000533791.1_Missense_Mutation_p.V816M|SLFN13_ENST00000534689.1_Missense_Mutation_p.V498M	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	816						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ACTTCTGTCACGGTGCTGACA	0.468																																																	0													182.0	152.0	162.0					17																	33767862		2203	4300	6503	SO:0001583	missense	0			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.2446G>A	17.37:g.33767862C>T	ENSP00000285013:p.Val816Met		E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.V816M	ENST00000285013.6	37	c.2446	CCDS32620.1	17	.	.	.	.	.	.	.	.	.	.	c	6.316	0.426325	0.11987	.	.	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	3.26	-6.51	0.01878	.	2.502770	0.01545	N	0.019408	T	0.62060	0.2397	N	0.12182	0.205	0.09310	N	1	B;B	0.14012	0.009;0.008	B;B	0.12837	0.008;0.001	T	0.52593	-0.8555	10	0.48119	T	0.1	.	5.6619	0.17674	0.0:0.3951:0.2699:0.335	.	498;816	Q68D06-2;Q68D06	.;SLN13_HUMAN	M	816;498;816;816;498	ENSP00000285013:V816M;ENSP00000353692:V498M;ENSP00000434439:V816M;ENSP00000444016:V816M;ENSP00000435442:V498M	ENSP00000285013:V816M	V	-	1	0	SLFN13	30791975	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-8.109000	0.00025	-1.304000	0.02329	-1.763000	0.00667	GTG	SLFN13	-	superfamily_P-loop_NTPase	ENSG00000154760		0.468	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	HGNC	protein_coding	OTTHUMT00000381883.1	-	0.00	40	0	C	NM_144682		33767862	-1	tier1	-	no_errors	ENST00000285013	ensembl	human	known	74_37	missense	51.35	18	19	SNP	0.000	T
SLIT2	9353	genome.wustl.edu	37	4	20530701	20530701	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:20530701T>C	ENST00000504154.1	+	16	1844	c.1592T>C	c.(1591-1593)aTt>aCt	p.I531T	SLIT2_ENST00000503823.1_Missense_Mutation_p.I523T|SLIT2_ENST00000273739.5_Missense_Mutation_p.I535T|MIR218-1_ENST00000384999.1_RNA|SLIT2_ENST00000503837.1_Missense_Mutation_p.I527T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	531	LRRNT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCGGAGCACATTCCCCAGTAC	0.458																																																	0													100.0	98.0	99.0					4																	20530701		2203	4300	6503	SO:0001583	missense	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1592T>C	4.37:g.20530701T>C	ENSP00000422591:p.Ile531Thr		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.I531T	ENST00000504154.1	37	c.1592	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	T	15.73	2.919765	0.52653	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25	6.07	6.07	0.98685	Leucine-rich repeat-containing N-terminal (2);	0.044116	0.85682	D	0.000000	D	0.98883	0.9622	H	0.94698	3.57	0.80722	D	1	D;D	0.63046	0.966;0.992	P;D	0.71184	0.865;0.972	D	0.99572	1.0971	10	0.87932	D	0	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	523;531	O94813-3;O94813	.;SLIT2_HUMAN	T	523;531;535;527;527	ENSP00000427548:I523T;ENSP00000422591:I531T;ENSP00000273739:I535T;ENSP00000422261:I527T	ENSP00000273739:I535T	I	+	2	0	SLIT2	20139799	1.000000	0.71417	0.989000	0.46669	0.312000	0.27988	7.698000	0.84413	2.326000	0.78906	0.533000	0.62120	ATT	SLIT2	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000145147		0.458	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	-	0.00	42	0	T			20530701	+1	tier1	-	no_errors	ENST00000504154	ensembl	human	known	74_37	missense	64.29	15	27	SNP	1.000	C
SLIT2	9353	genome.wustl.edu	37	4	20618777	20618778	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:20618777_20618778insC	ENST00000504154.1	+	35	4344_4345	c.4092_4093insC	c.(4093-4095)cccfs	p.P1365fs	SLIT2_ENST00000503823.1_Frame_Shift_Ins_p.P1357fs|SLIT2_ENST00000273739.5_Frame_Shift_Ins_p.P1378fs|SLIT2_ENST00000503837.1_Frame_Shift_Ins_p.P1361fs	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1365	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GATGGATGGGGCCCCTCTGTGA	0.574																																																	0																																										SO:0001589	frameshift_variant	0			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4096dupC	4.37:g.20618781_20618781dupC	ENSP00000422591:p.Pro1365fs		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Frame_Shift_Ins	INS	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1365fs	ENST00000504154.1	37	c.4092_4093	CCDS3426.1	4																																																																																			SLIT2	-	smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	ENSG00000145147		0.574	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2		0.00	77	0	-			20618778	+1	tier1		no_errors	ENST00000504154	ensembl	human	known	74_37	frame_shift_ins	36.67	38	22	INS	0.303:0.926	C
SLITRK3	22865	genome.wustl.edu	37	3	164906498	164906498	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:164906498C>T	ENST00000475390.1	-	2	2564	c.2121G>A	c.(2119-2121)agG>agA	p.R707R	SLITRK3_ENST00000241274.3_Silent_p.R707R			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	707					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTCAAACAGCCTGTGGCATT	0.577										HNSCC(40;0.11)																																							0													94.0	69.0	78.0					3																	164906498		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2121G>A	3.37:g.164906498C>T			Q1RMY6	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R707	ENST00000475390.1	37	c.2121	CCDS3197.1	3																																																																																			SLITRK3	-	NULL	ENSG00000121871		0.577	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	-	0.00	28	0	C	NM_014926		164906498	-1	tier1	-	no_errors	ENST00000241274	ensembl	human	known	74_37	silent	41.18	10	7	SNP	0.998	T
SLITRK3	22865	genome.wustl.edu	37	3	164907944	164907944	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:164907944C>A	ENST00000475390.1	-	2	1118	c.675G>T	c.(673-675)atG>atT	p.M225I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.M225I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	225					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.M225I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCTGGAGCTCCATCAGGCTTC	0.443										HNSCC(40;0.11)																																							1	Substitution - Missense(1)	lung(1)											72.0	76.0	75.0					3																	164907944		2203	4300	6503	SO:0001583	missense	0			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.675G>T	3.37:g.164907944C>A	ENSP00000420091:p.Met225Ile		Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.M225I	ENST00000475390.1	37	c.675	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219242	0.58560	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.50813	0.73;0.73	5.86	5.86	0.93980	.	0.000000	0.45867	D	0.000328	T	0.65165	0.2665	L	0.50333	1.59	0.50313	D	0.999861	P	0.49559	0.925	D	0.67900	0.954	T	0.59306	-0.7479	10	0.41790	T	0.15	-24.8247	20.1755	0.98177	0.0:1.0:0.0:0.0	.	225	O94933	SLIK3_HUMAN	I	225	ENSP00000420091:M225I;ENSP00000241274:M225I	ENSP00000241274:M225I	M	-	3	0	SLITRK3	166390638	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.999000	0.70665	2.779000	0.95612	0.561000	0.74099	ATG	SLITRK3	-	NULL	ENSG00000121871		0.443	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	-	0.00	27	0	C	NM_014926		164907944	-1	tier1	-	no_errors	ENST00000241274	ensembl	human	known	74_37	missense	34.88	28	15	SNP	1.000	A
SLITRK5	26050	genome.wustl.edu	37	13	88328551	88328551	+	Missense_Mutation	SNP	C	C	T	rs113077003		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:88328551C>T	ENST00000325089.6	+	2	1127	c.908C>T	c.(907-909)aCg>aTg	p.T303M	SLITRK5_ENST00000400028.3_Missense_Mutation_p.T62M	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	303					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTGAGCACCACGGGGTATTTA	0.537																																																	0													64.0	71.0	69.0					13																	88328551		2203	4300	6503	SO:0001583	missense	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.908C>T	13.37:g.88328551C>T	ENSP00000366283:p.Thr303Met		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T303M	ENST00000325089.6	37	c.908	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085034	0.36758	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.45668	0.89;0.89	5.76	5.76	0.90799	.	0.172916	0.48767	D	0.000169	T	0.36468	0.0968	N	0.08118	0	0.35042	D	0.759848	D;B	0.71674	0.998;0.067	P;B	0.57204	0.815;0.018	T	0.44498	-0.9324	9	.	.	.	-10.9403	13.101	0.59219	0.0:0.8391:0.1609:0.0	.	62;303	B4DSH5;O94991	.;SLIK5_HUMAN	M	303;62	ENSP00000366283:T303M;ENSP00000442244:T62M	.	T	+	2	0	SLITRK5	87126552	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.221000	0.51215	2.724000	0.93272	0.491000	0.48974	ACG	SLITRK5	-	NULL	ENSG00000165300		0.537	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	-	0.00	52	0	C			88328551	+1	tier1	rs113077003	no_errors	ENST00000325089	ensembl	human	known	74_37	missense	50.00	30	30	SNP	1.000	T
SLTM	79811	genome.wustl.edu	37	15	59182564	59182565	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:59182564_59182565delCT	ENST00000380516.2	-	15	2081_2082	c.1994_1995delAG	c.(1993-1995)gagfs	p.E665fs	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Frame_Shift_Del_p.E234fs	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	665	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTCTAGGCGCTCTCTCTCTCT	0.475																																																	0																																										SO:0001589	frameshift_variant	0			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1994_1995delAG	15.37:g.59182574_59182575delCT	ENSP00000369887:p.Glu665fs		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom	p.E665fs	ENST00000380516.2	37	c.1995_1994	CCDS10168.2	15																																																																																			SLTM	-	NULL	ENSG00000137776		0.475	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLTM	HGNC	protein_coding	OTTHUMT00000157124.1		0.00	17	0	CT	NM_024755		59182565	-1	tier1		no_errors	ENST00000380516	ensembl	human	known	74_37	frame_shift_del	23.81	16	5	DEL	1.000:1.000	-
SMAD4	4089	genome.wustl.edu	37	18	48605008	48605009	+	3'UTR	DEL	TT	TT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:48605008_48605009delTT	ENST00000342988.3	+	0	2368_2369				SMAD4_ENST00000398417.2_3'UTR|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4						atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)			NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		ATTAAAACAATTTTTTTTTTCC	0.347																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.*172TT>-	18.37:g.48605016_48605017delTT			A8K405	RNA	DEL	-	NULL	ENST00000342988.3	37	NULL	CCDS11950.1	18																																																																																			SMAD4	-	-	ENSG00000141646		0.347	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3		0.00	22	0	TT	NM_005359		48605009	+1	tier1		no_errors	ENST00000586253	ensembl	human	known	74_37	rna	28.57	10	4	DEL	0.000:0.003	-
SMAD5	4090	genome.wustl.edu	37	5	135513613	135513614	+	3'UTR	DEL	AA	AA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:135513613_135513614delAA	ENST00000514641.2	+	0	2204_2205				SMAD5_ENST00000545620.1_3'UTR|SMAD5_ENST00000545279.1_3'UTR			Q99717	SMAD5_HUMAN	SMAD family member 5						BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCACCAACTTAAAAAAAAAAAG	0.347																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000514641.2:c.*2202AA>-	5.37:g.135513621_135513622delAA			O14688|Q15798|Q9UQA1	RNA	DEL	-	NULL	ENST00000514641.2	37	NULL		5																																																																																			SMAD5	-	-	ENSG00000113658		0.347	SMAD5-001	KNOWN	basic	processed_transcript	SMAD5	HGNC	protein_coding	OTTHUMT00000372096.2		0.00	8	0	AA	NM_005903		135513614	+1	tier1		no_errors	ENST00000514641	ensembl	human	known	74_37	rna	40.00	3	2	DEL	0.549:0.499	-
SMARCA4	6597	genome.wustl.edu	37	19	11141498	11141498	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:11141498delG	ENST00000429416.3	+	26	3756	c.3475delG	c.(3475-3477)gggfs	p.G1160fs	SMARCA4_ENST00000413806.3_Frame_Shift_Del_p.G1160fs|SMARCA4_ENST00000450717.3_Frame_Shift_Del_p.G1160fs|SMARCA4_ENST00000541122.2_Frame_Shift_Del_p.G1160fs|SMARCA4_ENST00000344626.4_Frame_Shift_Del_p.G1160fs|SMARCA4_ENST00000590574.1_Frame_Shift_Del_p.G1160fs|SMARCA4_ENST00000589677.1_Frame_Shift_Del_p.G1160fs|SMARCA4_ENST00000444061.3_Frame_Shift_Del_p.G1160fs|SMARCA4_ENST00000358026.2_Frame_Shift_Del_p.G1160fs	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1160	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CACCCGGGCTGGGGGGCTCGG	0.622			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											24.0	25.0	25.0					19																	11141498		2196	4299	6495	SO:0001589	frameshift_variant	0			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3475delG	19.37:g.11141498delG	ENSP00000395654:p.Gly1160fs		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain	p.L1161fs	ENST00000429416.3	37	c.3475	CCDS12253.1	19																																																																																			SMARCA4	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000127616		0.622	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2		0.00	70	0	G	NM_003072		11141498	+1	tier1		no_errors	ENST00000358026	ensembl	human	known	74_37	frame_shift_del	29.23	46	19	DEL	1.000	-
SMARCAD1	56916	genome.wustl.edu	37	4	95173910	95173910	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:95173910delA	ENST00000354268.4	+	9	1106	c.1033delA	c.(1033-1035)aaafs	p.K346fs	SMARCAD1_ENST00000457823.2_Frame_Shift_Del_p.K346fs|SMARCAD1_ENST00000509418.1_5'Flank			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	346					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CAAGAAACGTAAAAAAAATGT	0.313																																																	0													49.0	50.0	50.0					4																	95173910		2203	4300	6503	SO:0001589	frameshift_variant	0			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1033delA	4.37:g.95173910delA	ENSP00000346217:p.Lys346fs		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Frame_Shift_Del	DEL	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N347fs	ENST00000354268.4	37	c.1033	CCDS3639.1	4																																																																																			SMARCAD1	-	NULL	ENSG00000163104		0.313	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	HGNC	protein_coding	OTTHUMT00000253583.1		0.00	32	0	A	NM_020159		95173910	+1	tier1		no_errors	ENST00000359052	ensembl	human	known	74_37	frame_shift_del	36.21	37	21	DEL	1.000	-
SMARCD3	6604	genome.wustl.edu	37	7	150938620	150938620	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:150938620G>T	ENST00000262188.8	-	8	1307	c.897C>A	c.(895-897)tcC>tcA	p.S299S	SMARCD3_ENST00000356800.2_Silent_p.S286S|SMARCD3_ENST00000392811.2_Silent_p.S286S|MIR671_ENST00000390183.1_RNA|SMARCD3_ENST00000477169.1_5'Flank|RP4-548D19.3_ENST00000607902.1_RNA	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	299	SWIB.				cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTGTCATGGGAGTCCTGCA	0.592																																																	0													47.0	41.0	43.0					7																	150938620		2203	4300	6503	SO:0001819	synonymous_variant	0			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.897C>A	7.37:g.150938620G>T			D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Silent	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.S299	ENST00000262188.8	37	c.897	CCDS34780.1	7																																																																																			SMARCD3	-	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	ENSG00000082014		0.592	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD3	HGNC	protein_coding	OTTHUMT00000348825.1	-	0.00	69	0	G	NM_001003801		150938620	-1	tier1	-	no_errors	ENST00000262188	ensembl	human	known	74_37	silent	5.97	62	4	SNP	0.831	T
SMC5	23137	genome.wustl.edu	37	9	72961329	72961329	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:72961329delA	ENST00000361138.5	+	19	2581				SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5						cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GCCTCCCCTCAAAAAAAAAAG	0.383																																																	0																																										SO:0001627	intron_variant	0			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2524-192A>-	9.37:g.72961329delA			A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	RNA	DEL	-	NULL	ENST00000361138.5	37	NULL	CCDS6632.1	9																																																																																			SMC5	-	-	ENSG00000198887		0.383	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC5	HGNC	protein_coding	OTTHUMT00000052603.1		0.00	13	0	A	NM_015110		72961329	+1	tier1		no_errors	ENST00000471372	ensembl	human	known	74_37	rna	85.71	1	6	DEL	0.001	-
SMG6	23293	genome.wustl.edu	37	17	1964770	1964770	+	3'UTR	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:1964770delC	ENST00000263073.6	-	0	4326				SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000544865.1_3'UTR|SMG6_ENST00000536871.2_3'UTR|SMG6_ENST00000354901.4_3'UTR	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGGGGGGGGGCCCCAGTGTGG	0.637																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0									,	33,4165		2,29,2068	17.0	12.0	14.0		,		0.7	17	dbSNP_134	14	77,8101		4,69,4016	no	utr-3,utr-3	SMG6	NM_017575.4,NM_001170957.1	,	6,98,6084	A1A1,A1R,RR		0.9416,0.7861,0.8888	,	,	1964770	110,12266	2184	4277	6461	SO:0001624	3_prime_UTR_variant	0			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.*16G>-	17.37:g.1964770delC			B7Z874|O94837|Q86VH6|Q9UF60	RNA	DEL	-	NULL	ENST00000263073.6	37	NULL	CCDS11016.1	17																																																																																			SMG6	-	-	ENSG00000070366		0.637	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3		0.00	67	0	C			1964770	-1	tier1		no_errors	ENST00000570756	ensembl	human	known	74_37	rna	27.69	47	18	DEL	0.088	-
SMG7	9887	genome.wustl.edu	37	1	183515417	183515417	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:183515417G>A	ENST00000347615.2	+	17	2806	c.2687G>A	c.(2686-2688)cGg>cAg	p.R896Q	SMG7_ENST00000367537.3_Missense_Mutation_p.R879Q|SMG7_ENST00000508461.1_Missense_Mutation_p.R854Q|SMG7_ENST00000507469.1_Missense_Mutation_p.R850Q|SMG7_ENST00000456731.2_Missense_Mutation_p.R808Q|SMG7_ENST00000515829.2_Missense_Mutation_p.R850Q	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	896					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AGGGGCAAACGGTCACCAGGA	0.498																																																	0													85.0	90.0	88.0					1																	183515417		2203	4300	6503	SO:0001583	missense	0			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2687G>A	1.37:g.183515417G>A	ENSP00000340766:p.Arg896Gln		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	pfam_EST1	p.R850Q	ENST00000347615.2	37	c.2549	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831764	0.71258	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	5.72	5.72	0.89469	.	0.516121	0.20606	N	0.089063	T	0.37156	0.0993	L	0.27053	0.805	0.50632	D	0.999887	D;D;B;P;P;D	0.65815	0.995;0.986;0.01;0.864;0.905;0.986	B;B;B;B;B;B	0.42959	0.403;0.313;0.004;0.211;0.147;0.313	T	0.17930	-1.0353	10	0.07644	T	0.81	-17.9376	19.8968	0.96969	0.0:0.0:1.0:0.0	.	854;879;808;850;896;850	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	Q	808;879;854;896;850;850	ENSP00000407629:R808Q;ENSP00000356507:R879Q;ENSP00000426915:R854Q;ENSP00000340766:R896Q;ENSP00000425133:R850Q;ENSP00000421358:R850Q	ENSP00000340766:R896Q	R	+	2	0	SMG7	181782040	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.029000	0.64121	2.691000	0.91804	0.655000	0.94253	CGG	SMG7	-	NULL	ENSG00000116698		0.498	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1	-	0.00	34	0	G	NM_014837		183515417	+1	tier1	rs149950850	no_errors	ENST00000507469	ensembl	human	known	74_37	missense	24.14	44	14	SNP	1.000	A
SMG7	9887	genome.wustl.edu	37	1	183518965	183518965	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:183518965G>T	ENST00000347615.2	+	19	3009	c.2890G>T	c.(2890-2892)Gca>Tca	p.A964S	SMG7_ENST00000367537.3_Missense_Mutation_p.A997S|SMG7_ENST00000508461.1_Missense_Mutation_p.A972S|SMG7_ENST00000507469.1_Missense_Mutation_p.A968S|SMG7_ENST00000456731.2_Missense_Mutation_p.A876S|SMG7_ENST00000515829.2_Missense_Mutation_p.A918S	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	964	Ser-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CAGCTCCAAAGCAGAACTCAG	0.438																																																	0													123.0	116.0	118.0					1																	183518965		2203	4300	6503	SO:0001583	missense	0			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2890G>T	1.37:g.183518965G>T	ENSP00000340766:p.Ala964Ser		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	pfam_EST1	p.A968S	ENST00000347615.2	37	c.2902	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777134	0.49786	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1	5.66	4.74	0.60224	.	0.278186	0.35378	N	0.003244	T	0.18467	0.0443	N	0.14661	0.345	0.31153	N	0.705225	B;B;B;B;B	0.24483	0.104;0.02;0.013;0.044;0.049	B;B;B;B;B	0.22386	0.036;0.024;0.037;0.036;0.039	T	0.23368	-1.0190	10	0.06365	T	0.9	-7.7779	3.4124	0.07363	0.1052:0.1674:0.5543:0.1731	.	972;876;918;964;968	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	S	876;997;972;964;968;918	ENSP00000407629:A876S;ENSP00000356507:A997S;ENSP00000426915:A972S;ENSP00000340766:A964S;ENSP00000425133:A968S;ENSP00000421358:A918S	ENSP00000340766:A964S	A	+	1	0	SMG7	181785588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.416000	0.34759	1.355000	0.45865	0.655000	0.94253	GCA	SMG7	-	NULL	ENSG00000116698		0.438	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1	-	0.00	46	0	G	NM_014837		183518965	+1	tier1	-	no_errors	ENST00000507469	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
SMOC1	64093	genome.wustl.edu	37	14	70477591	70477591	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:70477591G>A	ENST00000381280.4	+	8	1038	c.785G>A	c.(784-786)tGc>tAc	p.C262Y	SMOC1_ENST00000361956.3_Missense_Mutation_p.C262Y	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	262	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCAGTGCAATGCCACCAGTCC	0.627																																																	0													72.0	75.0	74.0					14																	70477591		2203	4300	6503	SO:0001583	missense	0			AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.785G>A	14.37:g.70477591G>A	ENSP00000370680:p.Cys262Tyr		A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.C262Y	ENST00000381280.4	37	c.785	CCDS9798.1	14	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764653	0.90020	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	D;D	0.87571	-2.27;-2.27	5.47	5.47	0.80525	Thyroglobulin type-1 (5);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96012	0.8701	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.996	D	0.96904	0.9662	10	0.87932	D	0	-19.5487	19.6781	0.95945	0.0:0.0:1.0:0.0	.	262;262	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	Y	262	ENSP00000355110:C262Y;ENSP00000370680:C262Y	ENSP00000355110:C262Y	C	+	2	0	SMOC1	69547344	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.813000	0.99286	2.728000	0.93425	0.557000	0.71058	TGC	SMOC1	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000198732		0.627	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMOC1	HGNC	protein_coding	OTTHUMT00000412467.1	-	0.00	20	0	G			70477591	+1	tier1	-	no_errors	ENST00000361956	ensembl	human	known	74_37	missense	47.62	11	10	SNP	1.000	A
SMURF2	64750	genome.wustl.edu	37	17	62602752	62602752	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:62602752C>T	ENST00000262435.9	-	2	246	c.59G>A	c.(58-60)tGt>tAt	p.C20Y	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	20	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|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)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			GTTTTTTGCACAGAGTACTGT	0.289																																																	0													14.0	15.0	15.0					17																	62602752		2182	4275	6457	SO:0001583	missense	0			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.59G>A	17.37:g.62602752C>T	ENSP00000262435:p.Cys20Tyr		Q52LL1|Q9H260	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.C20Y	ENST00000262435.9	37	c.59	CCDS32707.1	17	.	.	.	.	.	.	.	.	.	.	C	14.48	2.549260	0.45383	.	.	ENSG00000108854	ENST00000262435	T	0.66995	-0.24	5.8	5.8	0.92144	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.83889	0.5352	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85068	0.0938	9	0.87932	D	0	.	20.0464	0.97608	0.0:1.0:0.0:0.0	.	20	Q9HAU4	SMUF2_HUMAN	Y	20	ENSP00000262435:C20Y	ENSP00000262435:C20Y	C	-	2	0	SMURF2	60033214	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.537000	0.82033	2.729000	0.93468	0.561000	0.74099	TGT	SMURF2	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000108854		0.289	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMURF2	HGNC	protein_coding	OTTHUMT00000445227.1	-	0.00	46	0	C	NM_022739		62602752	-1	tier1	-	no_errors	ENST00000262435	ensembl	human	known	74_37	missense	34.88	28	15	SNP	1.000	T
SMYD1	150572	genome.wustl.edu	37	2	88383895	88383895	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:88383895G>A	ENST00000419482.2	+	2	283	c.198G>A	c.(196-198)ggG>ggA	p.G66G	SMYD1_ENST00000444564.2_Silent_p.G66G|MIR4780_ENST00000584268.1_RNA|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000438570.1_Silent_p.G66G	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	66	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ATCGCTGTGGGCAGTGCAAGT	0.507																																																	0													113.0	94.0	100.0					2																	88383895		2203	4300	6503	SO:0001819	synonymous_variant	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.198G>A	2.37:g.88383895G>A			A0AV30|A6NE13	Silent	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.G66	ENST00000419482.2	37	c.198	CCDS33240.1	2																																																																																			SMYD1	-	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_Znf_MYND	ENSG00000115593		0.507	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	-	0.00	54	0	G	XM_097915		88383895	+1	tier1	-	no_errors	ENST00000419482	ensembl	human	known	74_37	silent	44.64	31	25	SNP	0.947	A
SNAP47	116841	genome.wustl.edu	37	1	227935790	227935790	+	Frame_Shift_Del	DEL	G	G	-	rs200031076	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:227935790delG	ENST00000366759.4	+	2	902	c.488delG	c.(487-489)cggfs	p.R163fs	SNAP47_ENST00000315781.5_Frame_Shift_Del_p.R163fs|SNAP47-AS1_ENST00000413347.2_RNA|SNAP47_ENST00000366760.1_Intron	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	163	t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCAAGGACCCGGGGCGAGGAG	0.627																																																	0													40.0	40.0	40.0					1																	227935790		2203	4300	6503	SO:0001589	frameshift_variant	0			AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.488delG	1.37:g.227935790delG	ENSP00000355721:p.Arg163fs		B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Frame_Shift_Del	DEL	pfscan_T_SNARE_dom	p.G164fs	ENST00000366759.4	37	c.488	CCDS1562.1	1																																																																																			SNAP47	-	NULL	ENSG00000143740		0.627	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAP47	HGNC	protein_coding	OTTHUMT00000091961.1		0.00	60	0	G	NM_053052		227935790	+1	tier1		no_errors	ENST00000366759	ensembl	human	known	74_37	frame_shift_del	15.79	48	9	DEL	1.000	-
SNAP91	9892	genome.wustl.edu	37	6	84333061	84333061	+	Splice_Site	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:84333061G>T	ENST00000439399.2	-	9	1082	c.766C>A	c.(766-768)Caa>Aaa	p.Q256K	SNAP91_ENST00000369694.2_Splice_Site_p.Q256K|SNAP91_ENST00000428679.2_Splice_Site_p.Q256K|SNAP91_ENST00000520302.1_Splice_Site_p.Q256K|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000195649.6_Splice_Site_p.Q256K|SNAP91_ENST00000521485.1_Splice_Site_p.Q256K|SNAP91_ENST00000521743.1_Splice_Site_p.Q256K|SNAP91_ENST00000437520.1_Intron	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	256					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.Q256K(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ATACCAACTTGCTGTGGATTT	0.308																																																	2	Substitution - Missense(2)	lung(2)											80.0	70.0	73.0					6																	84333061		1806	4073	5879	SO:0001630	splice_region_variant	0			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.766-1C>A	6.37:g.84333061G>T			A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.Q256K	ENST00000439399.2	37	c.766	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425418	0.62733	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000520302;ENST00000521743;ENST00000521931	T;T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.46	5.46	0.80206	ANTH (1);Clathrin adaptor, phosphoinositide-binding, GAT-like (1);	0.155020	0.64402	N	0.000014	T	0.33673	0.0871	L	0.39326	1.205	0.80722	D	1	P;D;P	0.56287	0.914;0.975;0.914	P;P;P	0.57152	0.814;0.618;0.814	T	0.08249	-1.0731	10	0.87932	D	0	-6.673	17.0791	0.86593	0.0:0.0:1.0:0.0	.	256;256;256	E5RI02;O60641;E1P549	.;AP180_HUMAN;.	K	256	ENSP00000429776:Q256K;ENSP00000358708:Q256K;ENSP00000400459:Q256K;ENSP00000195649:Q256K;ENSP00000412492:Q256K;ENSP00000428511:Q256K;ENSP00000428215:Q256K;ENSP00000430071:Q256K	ENSP00000195649:Q256K	Q	-	1	0	SNAP91	84389780	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.972000	0.70448	2.576000	0.86940	0.655000	0.94253	CAA	SNAP91	-	pfam_ANTH_dom	ENSG00000065609		0.308	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1		0.00	27	0	G		Missense_Mutation	84333061	-1			no_errors	ENST00000369694	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T
SNAPC4	6621	genome.wustl.edu	37	9	139278451	139278452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139278451_139278452insG	ENST00000298532.2	-	14	1821_1822	c.1453_1454insC	c.(1453-1455)catfs	p.H485fs		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCCAGACCGATGGGGCAGCTCA	0.525																																																	0																																										SO:0001589	frameshift_variant	0			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1454dupC	9.37:g.139278455_139278455dupG	ENSP00000298532:p.His485fs			Frame_Shift_Ins	INS	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.H485fs	ENST00000298532.2	37	c.1454_1453	CCDS6998.1	9																																																																																			SNAPC4	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	ENSG00000165684		0.525	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1		0.00	53	0	-	NM_003086		139278452	-1	tier1		no_errors	ENST00000298532	ensembl	human	known	74_37	frame_shift_ins	25.00	42	14	INS	1.000:1.000	G
SNCG	6623	genome.wustl.edu	37	10	88719881	88719881	+	Missense_Mutation	SNP	G	G	T	rs371074090		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:88719881G>T	ENST00000372017.3	+	3	329	c.287G>T	c.(286-288)cGc>cTc	p.R96L	MMRN2_ENST00000372027.5_5'Flank|SNCG_ENST00000348795.4_Silent_p.A113A|SNCG_ENST00000483064.1_3'UTR	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	96					adult locomotory behavior (GO:0008344)|aggressive behavior (GO:0002118)|cellular response to hydrostatic pressure (GO:0071464)|protein secretion (GO:0009306)|regulation of dopamine secretion (GO:0014059)|regulation of neurotransmitter secretion (GO:0046928)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				endometrium(1)|skin(1)	2						GGGGTGGTGCGCAAGGTGAGC	0.672																																																	0													69.0	62.0	65.0					10																	88719881		2203	4300	6503	SO:0001583	missense	0			AF044311	CCDS7380.1	10q23.2-q23.3	2006-06-28			ENSG00000173267	ENSG00000173267			11141	protein-coding gene	gene with protein product	"""synoretin"""	602998				9044857, 9700196	Standard	NM_003087		Approved	BCSG1, SR, persyn	uc001keb.2	O76070	OTTHUMG00000018656	ENST00000372017.3:c.287G>T	10.37:g.88719881G>T	ENSP00000361087:p.Arg96Leu		O15104|Q96P61	Missense_Mutation	SNP	pfam_Synuclein,prints_Synuclein,prints_Synuclein_gamma	p.R96L	ENST00000372017.3	37	c.287	CCDS7380.1	10	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605031	0.66445	.	.	ENSG00000173267	ENST00000372017	D	0.84070	-1.8	4.69	2.8	0.32819	.	0.229092	0.39834	N	0.001257	T	0.77994	0.4214	L	0.57536	1.79	0.09310	N	1	P	0.37038	0.579	B	0.38803	0.282	T	0.70680	-0.4805	10	0.87932	D	0	-19.0272	6.2121	0.20636	0.3986:0.0:0.6014:0.0	.	96	O76070	SYUG_HUMAN	L	96	ENSP00000361087:R96L	ENSP00000361087:R96L	R	+	2	0	SNCG	88709861	0.008000	0.16893	0.995000	0.50966	0.932000	0.56968	0.753000	0.26376	0.561000	0.29186	0.561000	0.74099	CGC	SNCG	-	pfam_Synuclein,prints_Synuclein,prints_Synuclein_gamma	ENSG00000173267		0.672	SNCG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCG	HGNC	protein_coding	OTTHUMT00000049167.1	-	0.00	43	0	G			88719881	+1	tier1	-	no_errors	ENST00000372017	ensembl	human	known	74_37	missense	43.75	18	14	SNP	0.052	T
SND1	27044	genome.wustl.edu	37	7	127714589	127714589	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:127714589C>T	ENST00000354725.3	+	17	2009	c.1815C>T	c.(1813-1815)ggC>ggT	p.G605G		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	605	TNase-like 4. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						ACAAGGCCGGCAACTTTATCG	0.647																																																	0													101.0	63.0	76.0					7																	127714589		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1815C>T	7.37:g.127714589C>T			Q13122|Q96AG0	Silent	SNP	pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold	p.G605	ENST00000354725.3	37	c.1815	CCDS34747.1	7																																																																																			SND1	-	pfam_Staphylococal_nuclease_OB-fold,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococal_nuclease_OB-fold	ENSG00000197157		0.647	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	-	0.00	30	0	C	NM_014390		127714589	+1	tier1	-	no_errors	ENST00000354725	ensembl	human	known	74_37	silent	52.38	10	11	SNP	1.000	T
SNHG14	104472715	genome.wustl.edu	37	15	25332684	25332684	+	RNA	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:25332684G>A	ENST00000546682.1	+	0	524				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000384430.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNORD116-20_ENST00000384529.1_lincRNA|SNORD116-20_ENST00000384507.1_lincRNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTTGGAGATGGCAGGAAGCCC	0.483																																																	0																																												0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25332684G>A				RNA	SNP	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			SNHG14	-	-	ENSG00000224078		0.483	SNHG14-022	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000408281.1	-	0.00	44	0	G			25332684	+1	tier1	-	no_errors	ENST00000546682	ensembl	human	known	74_37	rna	19.51	32	8	SNP	0.001	A
SNHG14	104472715	genome.wustl.edu	37	15	25438540	25438540	+	RNA	SNP	G	G	A	rs368339391		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:25438540G>A	ENST00000424208.1	+	0	1399				SNHG14_ENST00000456576.1_RNA|SNORD115-12_ENST00000362583.1_RNA|SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000363358.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATAGGATTACGCTGAGGCCCA	0.502																																																	0								G		0,1752		0,0,876	392.0	399.0	397.0			-0.8	0.7	15		397	1,3981		0,1,1990	no	intergenic				0,1,2866	AA,AG,GG		0.0251,0.0,0.0174			25438540	1,5733	876	1991	2867			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25438540G>A				RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNHG14	-	-	ENSG00000224078		0.502	SNHG14-002	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126729.2	-	0.00	114	0	G			25438540	+1	tier1	-	no_errors	ENST00000363358	ensembl	human	known	74_37	rna	42.72	59	44	SNP	0.717	A
SNHG5	387066	genome.wustl.edu	37	6	86387037	86387038	+	RNA	DEL	TT	TT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:86387037_86387038delTT	ENST00000384338.1	-	0	48_49				SNHG5_ENST00000364995.1_RNA	NR_002743.2				small nucleolar RNA host gene 5 (non-protein coding)																		TCCGTAAAAGTTTTTTTTTTTC	0.327																																																	0																																												0			BC009220		6q14.3	2012-10-19	2008-08-14	2006-07-31	ENSG00000203875	ENSG00000203875		"""Long non-coding RNAs"", ""-"""	21026	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 44"", ""long intergenic non-protein coding RNA 44"""	613263	"""chromosome 6 open reading frame 160"""	C6orf160		10792466	Standard	NR_003038		Approved	MGC16362, bA33E24.2, U50HG, NCRNA00044, LINC00044	uc003plb.4		OTTHUMG00000015144		6.37:g.86387045_86387046delTT				RNA	DEL	-	NULL	ENST00000384338.1	37	NULL		6																																																																																			SNHG5	-	-	ENSG00000203875		0.327	SNHG5-202	KNOWN	basic	snoRNA	SNHG5	HGNC	processed_transcript			0.00	49	0	TT	NR_003038		86387038	-1	tier1		no_errors	ENST00000384338	ensembl	human	known	74_37	rna	23.26	33	10	DEL	0.001:0.001	-
RPL30	6156	genome.wustl.edu	37	8	99054504	99054504	+	Intron	DEL	T	T	-	rs534352583|rs367741409	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:99054504delT	ENST00000521291.1	-	3	445				RPL30_ENST00000523172.1_Intron|KB-1208A12.3_ENST00000501016.2_RNA|RPL30_ENST00000287038.3_Intron|SNORA72_ENST00000384339.1_RNA|RPL30_ENST00000396070.2_Intron|RPL30_ENST00000518164.1_Intron			P62888	RL30_HUMAN	ribosomal protein L30						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			TTTTTGGCACTTTTTTTTTTC	0.313																																																	0																																										SO:0001627	intron_variant	0				CCDS34928.1	8q22	2013-05-09			ENSG00000156482	ENSG00000156482		"""L ribosomal proteins"""	10333	protein-coding gene	gene with protein product		180467				1577483	Standard	NM_000989		Approved	L30	uc003yif.3	P62888	OTTHUMG00000164796	ENST00000521291.1:c.298+368A>-	8.37:g.99054504delT			B2R591|P04645|Q502Z6	RNA	DEL	-	NULL	ENST00000521291.1	37	NULL	CCDS34928.1	8																																																																																			KB-1208A12.3	-	-	ENSG00000245970		0.313	RPL30-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNORA72	Clone_based_vega_gene	protein_coding	OTTHUMT00000380450.1		0.00	28	0	T			99054504	+1	tier1		no_errors	ENST00000501016	ensembl	human	known	74_37	rna	20.00	44	11	DEL	0.001	-
SNHG14	104472715	genome.wustl.edu	37	15	25319288	25319291	+	RNA	DEL	TTTT	TTTT	-	rs75562897		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:25319288_25319291delTTTT	ENST00000549804.2	+	0	977				SNORD116-12_ENST00000384468.1_RNA|SNORD116-9_ENST00000384000.1_RNA|SNORD116-10_ENST00000363791.1_RNA|SNHG14_ENST00000551077.1_RNA|SNORD116-11_ENST00000383882.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		CATATATACGTTTTTTTTTTTTTT	0.377																																																	0																																												0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25319296_25319299delTTTT				RNA	DEL	-	NULL	ENST00000549804.2	37	NULL		15																																																																																			SNORD116-10	-	-	ENSG00000200661		0.377	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	SNORD116-10	HGNC	processed_transcript	OTTHUMT00000408278.2		0.00	39	0	TTTT			25319291	+1	tier1		no_errors	ENST00000363791	ensembl	human	known	74_37	rna	26.83	30	11	DEL	0.014:0.018:0.019:0.039	-
SNHG14	104472715	genome.wustl.edu	37	15	25319288	25319292	+	RNA	DEL	TTTTT	TTTTT	-	rs75562897		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTTT	TTTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:25319288_25319292delTTTTT	ENST00000549804.2	+	0	977				SNORD116-12_ENST00000384468.1_RNA|SNORD116-9_ENST00000384000.1_RNA|SNORD116-10_ENST00000363791.1_RNA|SNHG14_ENST00000551077.1_RNA|SNORD116-11_ENST00000383882.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		CATATATACGTTTTTTTTTTTTTTT	0.376																																																	0																																												0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25319298_25319302delTTTTT				RNA	DEL	-	NULL	ENST00000549804.2	37	NULL		15																																																																																			SNORD116-10	-	-	ENSG00000200661		0.376	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	SNORD116-10	HGNC	processed_transcript	OTTHUMT00000408278.2		0.00	39	0	TTTTT			25319292	+1			no_errors	ENST00000363791	ensembl	human	known	74_37	rna	26.83	30	11	DEL	0.014:0.018:0.019:0.039:0.200	0
SNHG14	104472715	genome.wustl.edu	37	15	25353432	25353434	+	RNA	DEL	AAA	AAA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:25353432_25353434delAAA	ENST00000546682.1	+	0	4157				SNORD116-30_ENST00000516468.1_RNA|SNORD116-29_ENST00000384516.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		CGATGACTTTAAAAAAAAAAAAT	0.419																																																	0																																												0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25353441_25353443delAAA				RNA	DEL	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			SNORD116-30	-	-	ENSG00000252277		0.419	SNHG14-022	KNOWN	basic	antisense	SNORD116-30	HGNC	processed_transcript	OTTHUMT00000408281.1		0.00	12	0	AAA			25353434	+1	tier1		no_errors	ENST00000516468	ensembl	human	known	74_37	rna	40.00	9	6	DEL	0.009:0.012:0.012	-
SNHG14	104472715	genome.wustl.edu	37	15	25310193	25310193	+	RNA	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:25310193delA	ENST00000549804.2	+	0	538				SNORD116-6_ENST00000384711.1_RNA|SNORD116-7_ENST00000384404.1_RNA|SNHG14_ENST00000551077.1_RNA|SNORD116-5_ENST00000384462.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TGAGTCCTCCAAAAAAAACAT	0.473																																																	0										166,2296		70,26,1135	169.0	153.0	158.0			0.2	0.0	15		156	381,4487		179,23,2232	no	intergenic				249,49,3367	A1A1,A1R,RR		7.8266,6.7425,7.4625			25310193	547,6783	876	1991	2867			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25310193delA				RNA	DEL	-	NULL	ENST00000549804.2	37	NULL		15																																																																																			SNORD116-6	-	-	ENSG00000207442		0.473	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	SNORD116-6	HGNC	processed_transcript	OTTHUMT00000408278.2		0.00	113	0	A			25310193	+1	tier1		no_errors	ENST00000384711	ensembl	human	known	74_37	rna	45.95	40	34	DEL	0.001	-
SNRNP35	11066	genome.wustl.edu	37	12	123950525	123950525	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:123950525delA	ENST00000526639.2	+	2	1017	c.438delA	c.(436-438)ggafs	p.G146fs	SNRNP35_ENST00000412157.2_Frame_Shift_Del_p.G151fs|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Frame_Shift_Del_p.G146fs	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	146					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GTCTTGGGGGAAAAAAGGAGT	0.502																																																	0													64.0	75.0	71.0					12																	123950525		2203	4300	6503	SO:0001589	frameshift_variant	0			BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"""RNA binding motif (RRM) containing"""	30852	protein-coding gene	gene with protein product	"""U1 snRNP binding protein homolog"""					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.438delA	12.37:g.123950525delA	ENSP00000432595:p.Gly146fs		A8K262|Q5XKN9	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K153fs	ENST00000526639.2	37	c.453	CCDS9249.1	12																																																																																			SNRNP35	-	NULL	ENSG00000184209		0.502	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP35	HGNC	protein_coding	OTTHUMT00000395197.2		0.00	52	0	A	NM_007020		123950525	+1	tier1		no_errors	ENST00000412157	ensembl	human	known	74_37	frame_shift_del	33.33	42	21	DEL	0.028	-
SNRNP40	9410	genome.wustl.edu	37	1	31732678	31732679	+	3'UTR	DEL	AA	AA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:31732678_31732679delAA	ENST00000263694.4	-	0	1332_1333				SNRNP40_ENST00000373720.3_3'UTR|SNRNP40_ENST00000489853.1_5'UTR	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						aaagaaaaagaaaaaaaaaaaC	0.371																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.*241TT>-	1.37:g.31732686_31732687delAA			B4DQJ1|O75938|O95320	RNA	DEL	-	NULL	ENST00000263694.4	37	NULL	CCDS340.1	1																																																																																			SNRNP40	-	-	ENSG00000060688		0.371	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP40	HGNC	protein_coding	OTTHUMT00000010657.1		0.00	42	0	AA	NM_004814		31732679	-1	tier1		no_errors	ENST00000486941	ensembl	human	known	74_37	rna	50.00	19	19	DEL	0.040:0.034	-
SNRNP70	6625	genome.wustl.edu	37	19	49610906	49610906	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:49610906G>A	ENST00000598441.1	+	9	826	c.602G>A	c.(601-603)aGa>aAa	p.R201K	SNRNP70_ENST00000221448.5_Missense_Mutation_p.R201K			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	201					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						GGTACCAGAAGAGGAGGGGCT	0.647																																																	0													63.0	64.0	64.0					19																	49610906		2203	4300	6503	SO:0001583	missense	0				CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.602G>A	19.37:g.49610906G>A	ENSP00000472998:p.Arg201Lys		B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	pfam_U1snRNP70_N,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R201K	ENST00000598441.1	37	c.602	CCDS12756.1	19	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042069	0.55003	.	.	ENSG00000104852	ENST00000221448;ENST00000544278	T	0.75367	-0.93	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	N	0.21282	0.65	0.80722	D	1	B;B	0.30455	0.179;0.28	B;B	0.34722	0.064;0.188	T	0.57260	-0.7842	10	0.08837	T	0.75	-7.1442	15.7987	0.78433	0.0:0.0:1.0:0.0	.	201;201	P08621;P08621-2	RU17_HUMAN;.	K	201;105	ENSP00000221448:R201K	ENSP00000221448:R201K	R	+	2	0	SNRNP70	54302718	1.000000	0.71417	0.999000	0.59377	0.537000	0.34900	6.703000	0.74633	2.095000	0.63458	0.462000	0.41574	AGA	SNRNP70	-	NULL	ENSG00000104852		0.647	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP70	HGNC	protein_coding	OTTHUMT00000466266.1	-	0.00	71	0	G	NM_003089		49610906	+1	tier1	-	no_errors	ENST00000598441	ensembl	human	known	74_37	missense	50.65	37	39	SNP	1.000	A
SNTB2	6645	genome.wustl.edu	37	16	69317976	69317976	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:69317976C>T	ENST00000336278.4	+	5	1212	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*		NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	392	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CTCCGGATGTCGATCCCCCTC	0.478																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)												0													158.0	149.0	152.0					16																	69317976		2198	4300	6498	SO:0001587	stop_gained	0			U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"""syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"""	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.1174C>T	16.37:g.69317976C>T	ENSP00000338191:p.Arg392*		Q9BY09	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.R392*	ENST00000336278.4	37	c.1174	CCDS10873.1	16	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033555	0.93575	.	.	ENSG00000168807	ENST00000336278;ENST00000467311	.	.	.	5.32	4.31	0.51392	.	0.126170	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-1.8078	13.9271	0.63968	0.2371:0.7629:0.0:0.0	.	.	.	.	X	392;43	.	ENSP00000338191:R392X	R	+	1	2	SNTB2	67875477	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.577000	0.36515	2.485000	0.83878	0.655000	0.94253	CGA	SNTB2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000168807		0.478	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB2	HGNC	protein_coding	OTTHUMT00000268945.1	-	0.00	104	0	C			69317976	+1	tier1	-	no_errors	ENST00000336278	ensembl	human	known	74_37	nonsense	66.25	27	53	SNP	1.000	T
SNTG1	54212	genome.wustl.edu	37	8	51465618	51465618	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:51465618C>T	ENST00000522124.1	+	12	1350	c.689C>T	c.(688-690)gCc>gTc	p.A230V	SNTG1_ENST00000276467.5_Missense_Mutation_p.A230V|SNTG1_ENST00000517473.1_Missense_Mutation_p.A230V|SNTG1_ENST00000518864.1_Missense_Mutation_p.A230V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	230					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGGCAGAATGCCTTTCAAGTC	0.418																																																	0													138.0	119.0	125.0					8																	51465618		2203	4300	6503	SO:0001583	missense	0			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.689C>T	8.37:g.51465618C>T	ENSP00000429842:p.Ala230Val		Q2M3Q0|Q9NY98	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.A230V	ENST00000522124.1	37	c.689	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915712	0.92178	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.2	5.2	0.72013	Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.71367	0.3331	M	0.74647	2.275	0.80722	D	1	D;D	0.71674	0.998;0.993	D;D	0.69307	0.963;0.956	T	0.69877	-0.5026	10	0.33141	T	0.24	.	17.7901	0.88550	0.0:1.0:0.0:0.0	.	230;230	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	V	230	ENSP00000429276:A230V;ENSP00000429842:A230V;ENSP00000431123:A230V;ENSP00000276467:A230V	ENSP00000276467:A230V	A	+	2	0	SNTG1	51628171	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.985000	0.76193	2.437000	0.82529	0.558000	0.71614	GCC	SNTG1	-	smart_Pleckstrin_homology	ENSG00000147481		0.418	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	HGNC	protein_coding	OTTHUMT00000377964.1	-	0.00	51	0	C			51465618	+1	tier1	-	no_errors	ENST00000518864	ensembl	human	known	74_37	missense	39.44	43	28	SNP	1.000	T
SNUPN	10073	genome.wustl.edu	37	15	75917121	75917121	+	5'UTR	DEL	T	T	-	rs78973175		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:75917121delT	ENST00000564644.1	-	0	508				SNUPN_ENST00000564675.1_Intron|SNUPN_ENST00000371091.5_Frame_Shift_Del_p.N22fs|SNUPN_ENST00000567134.1_Intron|SNUPN_ENST00000308588.5_Intron|CTD-2026K11.3_ENST00000566036.1_RNA			O95149	SPN1_HUMAN	snurportin 1						gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						gttgttgttgttttttttttg	0.483																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.-71A>-	15.37:g.75917121delT			A6NE34|A8K0B0|D3DW76	Frame_Shift_Del	DEL	pfam_Snurportin-1_N,pirsf_Snurportin-1,pfscan_Importin-a_IBB	p.N19fs	ENST00000564644.1	37	c.56	CCDS10281.1	15																																																																																			SNUPN	-	NULL	ENSG00000169371		0.483	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNUPN	HGNC	protein_coding	OTTHUMT00000420332.1		0.00	75	0	T	NM_005701		75917121	-1	tier1		no_errors	ENST00000371091	ensembl	human	known	74_37	frame_shift_del	27.50	58	22	DEL	0.114	-
SNX1	6642	genome.wustl.edu	37	15	64424092	64424092	+	Splice_Site	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:64424092G>A	ENST00000559844.1	+	11	1235		c.e11+1		SNX1_ENST00000560829.1_Splice_Site|SNX1_ENST00000261889.5_Splice_Site|SNX1_ENST00000559339.1_Splice_Site|SNX1_ENST00000561026.1_Splice_Site|SNX1_ENST00000353874.4_Splice_Site			Q13596	SNX1_HUMAN	sorting nexin 1						early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CATAGTCCGCGTAAGCTTCTG	0.463																																																	0													98.0	89.0	92.0					15																	64424092		2203	4300	6503	SO:0001630	splice_region_variant	0			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.1221+1G>A	15.37:g.64424092G>A			A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Splice_Site	SNP	-	e11+1	ENST00000559844.1	37	c.1221+1	CCDS32266.1	15	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469571	0.63625	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4583	0.87613	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNX1	62211145	1.000000	0.71417	0.947000	0.38551	0.673000	0.39480	9.459000	0.97638	2.693000	0.91896	0.561000	0.74099	.	SNX1	-	-	ENSG00000028528		0.463	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX1	HGNC	protein_coding	OTTHUMT00000418559.1	-	0.00	44	0	G	NM_003099	Intron	64424092	+1	tier1	-	no_errors	ENST00000559844	ensembl	human	known	74_37	splice_site	40.00	15	10	SNP	1.000	A
ACOT8	10005	genome.wustl.edu	37	20	44470649	44470651	+	Intron	DEL	TTT	TTT	-	rs370136124		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:44470649_44470651delTTT	ENST00000217455.4	-	6	932				SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Intron	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8						acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CCAAATACACttttttttttttt	0.567																																																	0																																										SO:0001627	intron_variant	0			AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.842-54AAA>-	20.37:g.44470658_44470660delTTT			O15261|Q17RX4	RNA	DEL	-	NULL	ENST00000217455.4	37	NULL	CCDS13378.1	20																																																																																			SNX21	-	-	ENSG00000124104		0.567	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX21	HGNC	protein_coding	OTTHUMT00000080338.2		0.00	45	0	TTT	NM_183386		44470651	+1	tier1		no_errors	ENST00000344780	ensembl	human	known	74_37	rna	33.33	20	10	DEL	0.017:0.013:0.007	-
SNX25	83891	genome.wustl.edu	37	4	186267693	186267693	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:186267693C>T	ENST00000504273.1	+	13	1992	c.1698C>T	c.(1696-1698)tgC>tgT	p.C566C	SNX25_ENST00000264694.8_Silent_p.C566C|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	566	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.C566C(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CCCCACAGTGCGTCCCTTCTT	0.299																																																	1	Substitution - coding silent(1)	pancreas(1)											50.0	52.0	51.0					4																	186267693		2203	4300	6503	SO:0001819	synonymous_variant	0			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1698C>T	4.37:g.186267693C>T			Q3ZT30|Q8N6K3	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.C566	ENST00000504273.1	37	c.1698	CCDS34116.1	4																																																																																			SNX25	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000109762		0.299	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1	-	0.00	82	0	C	NM_031953		186267693	+1	tier1	-	no_errors	ENST00000264694	ensembl	human	known	74_37	silent	36.96	58	34	SNP	1.000	T
NPIPB11	728888	genome.wustl.edu	37	16	29415176	29415176	+	Intron	SNP	A	A	T	rs564695861	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:29415176A>T	ENST00000524087.1	-	2	37				SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11							integral component of membrane (GO:0016021)											TAGATAATTTAAAAAAAAAGT	0.413													.|||	27	0.00539137	0.0182	0.0014	5008	,	,		20861	0.001		0.0	False		,,,				2504	0.001																0																																										SO:0001627	intron_variant	0					16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.38-15T>A	16.37:g.29415176A>T				RNA	SNP	-	NULL	ENST00000524087.1	37	NULL		16																																																																																			SNX29P2	-	-	ENSG00000198106		0.413	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	SNX29P2	HGNC	protein_coding	OTTHUMT00000374094.1	-	0.00	118	0	A	XM_002343430		29415176	+1	tier1	-	no_errors	ENST00000398878	ensembl	human	known	74_37	rna	20.35	224	58	SNP	0.004	T
SNX31	169166	genome.wustl.edu	37	8	101596401	101596401	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:101596401T>C	ENST00000311812.2	-	12	1258	c.1108A>G	c.(1108-1110)Agc>Ggc	p.S370G	SNX31_ENST00000519521.1_5'UTR|SNX31_ENST00000428383.2_Missense_Mutation_p.S271G	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	370					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTCAAGCAGCTACTCAGCAAA	0.388																																																	0													129.0	114.0	119.0					8																	101596401		2203	4300	6503	SO:0001583	missense	0				CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.1108A>G	8.37:g.101596401T>C	ENSP00000312368:p.Ser370Gly		C9J6L9|Q8N0U9	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.S370G	ENST00000311812.2	37	c.1108	CCDS6288.1	8	.	.	.	.	.	.	.	.	.	.	T	20.4	3.988328	0.74589	.	.	ENSG00000174226	ENST00000311812;ENST00000428383	T;T	0.23950	2.22;1.88	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.41190	0.1148	L	0.56769	1.78	0.38972	D	0.958764	D;P	0.57899	0.981;0.745	P;B	0.56563	0.801;0.192	T	0.38436	-0.9661	10	0.62326	D	0.03	-8.1797	12.9573	0.58434	0.0:0.0:0.0:1.0	.	271;370	Q8N9S9-2;Q8N9S9	.;SNX31_HUMAN	G	370;271	ENSP00000312368:S370G;ENSP00000405024:S271G	ENSP00000312368:S370G	S	-	1	0	SNX31	101665577	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.953000	0.56699	2.302000	0.77476	0.533000	0.62120	AGC	SNX31	-	NULL	ENSG00000174226		0.388	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX31	HGNC	protein_coding	OTTHUMT00000379910.1	-	0.00	21	0	T	NM_152628		101596401	-1	tier1	-	no_errors	ENST00000311812	ensembl	human	known	74_37	missense	23.33	23	7	SNP	1.000	C
SNX32	254122	genome.wustl.edu	37	11	65618607	65618607	+	Missense_Mutation	SNP	G	G	A	rs562049246		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:65618607G>A	ENST00000308342.6	+	7	1110	c.685G>A	c.(685-687)Gac>Aac	p.D229N		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	229					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCTGCGGGCCGACCGCGTCAT	0.622											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		18293	0.001		0.0	False		,,,				2504	0.0																0													118.0	116.0	117.0					11																	65618607		2201	4297	6498	SO:0001583	missense	0			AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.685G>A	11.37:g.65618607G>A	ENSP00000310620:p.Asp229Asn	1085	Q8IW53|Q96NG4	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.D229N	ENST00000308342.6	37	c.685	CCDS8113.2	11	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956224	0.73902	.	.	ENSG00000172803	ENST00000308342	T	0.29397	1.57	5.13	5.13	0.70059	Vps5 C-terminal (1);	0.228780	0.30742	N	0.008966	T	0.54481	0.1861	M	0.83223	2.63	0.47037	D	0.999292	D	0.76494	0.999	P	0.57960	0.83	T	0.61549	-0.7040	10	0.87932	D	0	-40.2577	16.1197	0.81342	0.0:0.0:1.0:0.0	.	229	Q86XE0	SNX32_HUMAN	N	229	ENSP00000310620:D229N	ENSP00000310620:D229N	D	+	1	0	SNX32	65375183	1.000000	0.71417	0.069000	0.20011	0.801000	0.45260	4.994000	0.63901	2.672000	0.90937	0.655000	0.94253	GAC	SNX32	-	pfam_Vps5_C,pirsf_Snx5_Snx6	ENSG00000172803		0.622	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX32	HGNC	protein_coding	OTTHUMT00000250295.3	-	0.00	42	0	G	NM_152760		65618607	+1	tier1	-	no_errors	ENST00000308342	ensembl	human	known	74_37	missense	31.58	26	12	SNP	0.993	A
SOCS3	9021	genome.wustl.edu	37	17	76354966	76354966	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:76354966G>A	ENST00000330871.2	-	2	626	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	71	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GAGCTGTCGCGGATCAGAAAG	0.647																																																	0													27.0	25.0	26.0					17																	76354966		2201	4300	6501	SO:0001583	missense	0			AB004904	CCDS11756.1	17q25.3	2014-09-17						"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.211C>T	17.37:g.76354966G>A	ENSP00000330341:p.Arg71Cys		O14509	Missense_Mutation	SNP	pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.R71C	ENST00000330871.2	37	c.211	CCDS11756.1	17	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403572	0.62288	.	.	ENSG00000184557	ENST00000330871	D	0.99292	-5.7	4.13	4.13	0.48395	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.99616	0.9860	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97654	1.0156	10	0.87932	D	0	-18.2304	12.5062	0.55981	0.0:0.0:0.821:0.179	.	71	O14543	SOCS3_HUMAN	C	71	ENSP00000330341:R71C	ENSP00000330341:R71C	R	-	1	0	SOCS3	73866561	1.000000	0.71417	0.999000	0.59377	0.271000	0.26615	6.022000	0.70839	1.845000	0.53610	0.313000	0.20887	CGC	SOCS3	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000184557		0.647	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS3	HGNC	protein_coding	OTTHUMT00000437300.1	-	0.00	92	0	G			76354966	-1	tier1	-	no_errors	ENST00000330871	ensembl	human	known	74_37	missense	38.10	65	40	SNP	1.000	A
SOCS5	9655	genome.wustl.edu	37	2	46986990	46986990	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:46986990G>A	ENST00000306503.5	+	2	1493	c.1321G>A	c.(1321-1323)Gcc>Acc	p.A441T	SOCS5_ENST00000394861.2_Missense_Mutation_p.A441T	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	441	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TAGTTTCGACGCCCATGACCC	0.468																																																	0													129.0	124.0	126.0					2																	46986990		2203	4300	6503	SO:0001583	missense	0			AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1321G>A	2.37:g.46986990G>A	ENSP00000305133:p.Ala441Thr		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.A441T	ENST00000306503.5	37	c.1321	CCDS1830.1	2	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132605	0.56828	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.33438	1.41;1.41	5.43	4.55	0.56014	SH2 motif (3);	0.050233	0.85682	N	0.000000	T	0.27349	0.0671	N	0.05012	-0.13	0.80722	D	1	D	0.60160	0.987	P	0.54544	0.755	T	0.31194	-0.9952	10	0.62326	D	0.03	-17.4695	14.1532	0.65401	0.0725:0.0:0.9275:0.0	.	441	O75159	SOCS5_HUMAN	T	441	ENSP00000305133:A441T;ENSP00000378330:A441T	ENSP00000305133:A441T	A	+	1	0	SOCS5	46840494	1.000000	0.71417	0.937000	0.37676	0.309000	0.27889	9.657000	0.98554	1.526000	0.49068	0.655000	0.94253	GCC	SOCS5	-	smart_SH2,pfscan_SH2	ENSG00000171150		0.468	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS5	HGNC	protein_coding	OTTHUMT00000250791.2	-	0.00	58	0	G			46986990	+1	tier1	-	no_errors	ENST00000306503	ensembl	human	known	74_37	missense	37.93	36	22	SNP	1.000	A
MTCL1	23255	genome.wustl.edu	37	18	8786015	8786015	+	Missense_Mutation	SNP	C	C	T	rs373316781|rs569097168	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:8786015C>T	ENST00000306329.11	+	6	2893	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W	SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Missense_Mutation_p.R605W|SOGA2_ENST00000400050.3_Missense_Mutation_p.R605W|SOGA2_ENST00000359865.3_Missense_Mutation_p.R605W																							CCGAGCCGCGCGGGAGCTGCA	0.721																																																	0													14.0	15.0	14.0					18																	8786015		2183	4246	6429	SO:0001583	missense	0																														ENST00000306329.11:c.2893C>T	18.37:g.8786015C>T	ENSP00000305027:p.Arg965Trp			Missense_Mutation	SNP	pfam_SOGA	p.R605W	ENST00000306329.11	37	c.1813		18	.	.	.	.	.	.	.	.	.	.	C	8.743	0.919456	0.17982	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.45276	0.9;0.9;0.9	5.29	2.21	0.28008	.	0.611731	0.14709	N	0.303091	T	0.34424	0.0897	N	0.22421	0.69	0.48135	D	0.999591	D;D	0.69078	0.996;0.997	B;P	0.49953	0.424;0.627	T	0.08207	-1.0733	10	0.40728	T	0.16	-18.5219	9.1577	0.37002	0.3958:0.5:0.1042:0.0	.	626;605	A8MQ54;Q9Y4B5-3	.;.	W	626;605;605;605	ENSP00000429556:R605W;ENSP00000352927:R605W;ENSP00000382924:R605W	ENSP00000305027:R626W	R	+	1	2	CCDC165	8776015	0.000000	0.05858	0.797000	0.32132	0.177000	0.22998	0.082000	0.14847	1.172000	0.42781	-0.274000	0.10170	CGG	SOGA2	-	NULL	ENSG00000168502		0.721	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	-	0.00	11	0	C			8786015	+1	tier1	-	no_errors	ENST00000359865	ensembl	human	known	74_37	missense	68.97	9	20	SNP	0.453	T
SORBS2	8470	genome.wustl.edu	37	4	186583327	186583327	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:186583327A>G	ENST00000284776.7	-	5	534	c.25T>C	c.(25-27)Tcc>Ccc	p.S9P	SORBS2_ENST00000355634.5_Missense_Mutation_p.S109P|SORBS2_ENST00000437304.2_Missense_Mutation_p.S188P|SORBS2_ENST00000319471.9_Missense_Mutation_p.S95P|SORBS2_ENST00000448662.2_Missense_Mutation_p.S78P|SORBS2_ENST00000393528.3_Missense_Mutation_p.S55P|SORBS2_ENST00000449407.2_Missense_Mutation_p.S95P|SORBS2_ENST00000431808.1_Missense_Mutation_p.S9P	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	9					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCCGAGGGGGAAAACGGCCTC	0.498																																					Esophageal Squamous(153;41 2433 9491 36028)												0																																										SO:0001583	missense	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.25T>C	4.37:g.186583327A>G	ENSP00000284776:p.Ser9Pro		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.S9P	ENST00000284776.7	37	c.25	CCDS3845.1	4	.	.	.	.	.	.	.	.	.	.	A	23.0	4.362901	0.82353	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454;ENST00000445343;ENST00000439914;ENST00000444771;ENST00000430503;ENST00000450341;ENST00000445115;ENST00000457247;ENST00000456596;ENST00000425679;ENST00000439049;ENST00000451958;ENST00000444781;ENST00000414724;ENST00000419063;ENST00000393523	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.51	5.51	0.81932	.	0.100607	0.64402	D	0.000001	T	0.55847	0.1946	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D;D;P;B;B;D;D	0.76494	0.999;0.991;0.993;0.994;0.998;0.998;0.992;0.94;0.051;0.092;0.999;0.999	D;D;D;D;D;D;D;P;B;B;D;D	0.87578	0.997;0.993;0.996;0.987;0.995;0.993;0.98;0.834;0.04;0.067;0.997;0.998	T	0.58858	-0.7562	10	0.87932	D	0	-23.2011	15.79	0.78350	1.0:0.0:0.0:0.0	.	72;55;78;55;109;9;95;188;78;55;9;55	B7Z3D7;G3XAI0;C9JKV9;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2	.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.	P	9;78;9;188;95;95;109;55;55;9;9;9;55;9;9;9;9;78;78;78;72;95;109;9	ENSP00000284776:S9P;ENSP00000409158:S78P;ENSP00000411764:S9P;ENSP00000396008:S188P;ENSP00000322182:S95P;ENSP00000397262:S95P;ENSP00000347852:S109P;ENSP00000377162:S55P;ENSP00000321983:S55P;ENSP00000399048:S9P;ENSP00000408909:S9P;ENSP00000410483:S9P;ENSP00000405349:S55P;ENSP00000415680:S9P;ENSP00000397664:S9P;ENSP00000398335:S9P;ENSP00000410967:S9P;ENSP00000415637:S78P;ENSP00000416464:S78P;ENSP00000405092:S78P;ENSP00000396183:S72P;ENSP00000403417:S95P;ENSP00000408504:S109P	ENSP00000284776:S9P	S	-	1	0	SORBS2	186820321	1.000000	0.71417	0.995000	0.50966	0.814000	0.46013	7.030000	0.76484	2.313000	0.78055	0.455000	0.32223	TCC	SORBS2	-	NULL	ENSG00000154556		0.498	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	HGNC	protein_coding	OTTHUMT00000347944.3	-	0.00	79	0	A	NM_003603		186583327	-1	tier1	-	no_errors	ENST00000284776	ensembl	human	known	74_37	missense	47.13	46	41	SNP	1.000	G
SORL1	6653	genome.wustl.edu	37	11	121430341	121430341	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:121430341G>A	ENST00000260197.7	+	21	3153	c.3024G>A	c.(3022-3024)aaG>aaA	p.K1008K		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1008					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGGACATGAAGATTTTCTACA	0.502																																																	0													87.0	86.0	86.0					11																	121430341		2203	4299	6502	SO:0001819	synonymous_variant	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.3024G>A	11.37:g.121430341G>A			B2RNX7|Q92856	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.K1008	ENST00000260197.7	37	c.3024	CCDS8436.1	11																																																																																			SORL1	-	NULL	ENSG00000137642		0.502	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	-	0.00	38	0	G	NM_003105		121430341	+1	tier1	-	no_errors	ENST00000260197	ensembl	human	known	74_37	silent	44.83	16	13	SNP	1.000	A
SOX21	11166	genome.wustl.edu	37	13	95364174	95364174	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:95364174C>G	ENST00000376945.2	-	1	215	c.130G>C	c.(130-132)Gcc>Ccc	p.A44P	SOX21-AS1_ENST00000438290.2_lincRNA	NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN	SRY (sex determining region Y)-box 21	44					hair follicle development (GO:0001942)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					TTCCACTCGGCGCCCAAGCGC	0.612																																																	0													86.0	86.0	86.0					13																	95364174		2203	4300	6503	SO:0001583	missense	0			AF107044	CCDS9473.1	13q31-q32	2008-07-18			ENSG00000125285	ENSG00000125285		"""SRY (sex determining region Y)-boxes"""	11197	protein-coding gene	gene with protein product	"""SRY-box 21"""	604974				10441749	Standard	NM_007084		Approved	SOX25	uc001vma.3	Q9Y651	OTTHUMG00000017209	ENST00000376945.2:c.130G>C	13.37:g.95364174C>G	ENSP00000366144:p.Ala44Pro		P35715|Q15504|Q5TBS1	Missense_Mutation	SNP	pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,prints_Antifreeze_1	p.A44P	ENST00000376945.2	37	c.130	CCDS9473.1	13	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851079	0.51270	.	.	ENSG00000125285	ENST00000376945	D	0.98120	-4.73	3.31	2.43	0.29744	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000002	D	0.98798	0.9595	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.99050	1.0827	10	0.87932	D	0	.	11.4062	0.49900	0.1829:0.8171:0.0:0.0	.	44	Q9Y651	SOX21_HUMAN	P	44	ENSP00000366144:A44P	ENSP00000366144:A44P	A	-	1	0	SOX21	94162175	1.000000	0.71417	0.997000	0.53966	0.182000	0.23217	7.362000	0.79507	0.461000	0.27071	0.491000	0.48974	GCC	SOX21	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000125285		0.612	SOX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX21	HGNC	protein_coding	OTTHUMT00000045467.4	-	0.00	77	0	C	NM_007084		95364174	-1	tier1	-	no_errors	ENST00000376945	ensembl	human	known	74_37	missense	22.33	80	23	SNP	1.000	G
SOX30	11063	genome.wustl.edu	37	5	157065620	157065620	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:157065620G>T	ENST00000265007.6	-	4	1839	c.1498C>A	c.(1498-1500)Cca>Aca	p.P500T	SOX30_ENST00000519442.1_Missense_Mutation_p.P195T|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	500					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTAGACTTGGATCCTGGACA	0.567																																					Esophageal Squamous(31;525 799 19355 21125 41744)												0													70.0	69.0	70.0					5																	157065620		2203	4300	6503	SO:0001583	missense	0			AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.1498C>A	5.37:g.157065620G>T	ENSP00000265007:p.Pro500Thr		O94995|Q8IYX6	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P500T	ENST00000265007.6	37	c.1498	CCDS4339.1	5	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509214	0.64522	.	.	ENSG00000039600	ENST00000265007;ENST00000519442	D;D	0.97994	-4.37;-4.65	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000015	D	0.97151	0.9069	L	0.27053	0.805	0.36820	D	0.886335	D;D	0.69078	0.993;0.997	P;D	0.66196	0.782;0.942	D	0.99568	1.0970	10	0.72032	D	0.01	.	14.0824	0.64932	0.0:0.1501:0.8498:0.0	.	195;500	B4DXW7;O94993	.;SOX30_HUMAN	T	500;195	ENSP00000265007:P500T;ENSP00000427984:P195T	ENSP00000265007:P500T	P	-	1	0	SOX30	156998198	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	3.575000	0.53870	2.582000	0.87167	0.650000	0.86243	CCA	SOX30	-	NULL	ENSG00000039600		0.567	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SOX30	HGNC	protein_coding	OTTHUMT00000252571.2		0.00	74	0	G	NM_007017		157065620	-1			no_errors	ENST00000265007	ensembl	human	known	74_37	missense	6.41	73	5	SNP	1.000	T
SOX6	55553	genome.wustl.edu	37	11	16339919	16339922	+	Intron	DEL	TTTT	TTTT	-	rs559403185	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:16339919_16339922delTTTT	ENST00000352083.6	-	3	523				SOX6_ENST00000528252.1_Intron|SOX6_ENST00000528429.1_Intron|SOX6_ENST00000396356.3_Intron|SOX6_ENST00000527619.1_Intron|SOX6_ENST00000316399.6_Intron|SOX6_ENST00000533658.1_5'UTR			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6						astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GAAATCCCACTTTTTTTTTTTTTT	0.387																																																	0																																										SO:0001627	intron_variant	0			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.445+69AAAA>-	11.37:g.16339927_16339930delTTTT			Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	RNA	DEL	-	NULL	ENST00000352083.6	37	NULL		11																																																																																			SOX6	-	-	ENSG00000110693		0.387	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	SOX6	HGNC	protein_coding	OTTHUMT00000386811.1		0.00	19	0	TTTT	NM_033326		16339922	-1	tier1		no_errors	ENST00000533658	ensembl	human	known	74_37	rna	62.50	6	10	DEL	0.017:0.042:0.057:0.893	-
SP1	6667	genome.wustl.edu	37	12	53777115	53777115	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:53777115G>A	ENST00000327443.4	+	3	1482	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I	SP1_ENST00000426431.2_Missense_Mutation_p.V455I	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	462	Transactivation domain B (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CAATGGACAGGTCAGTTGGCA	0.552																																																	0													150.0	153.0	152.0					12																	53777115		2203	4300	6503	SO:0001583	missense	0			J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1384G>A	12.37:g.53777115G>A	ENSP00000329357:p.Val462Ile		E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V462I	ENST00000327443.4	37	c.1384	CCDS8857.1	12	.	.	.	.	.	.	.	.	.	.	G	6.441	0.449526	0.12223	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.05258	3.5;3.47	4.67	4.67	0.58626	.	0.000000	0.48767	D	0.000179	T	0.03783	0.0107	N	0.12637	0.245	0.58432	D	0.999994	B	0.28324	0.207	B	0.23716	0.048	T	0.29397	-1.0013	10	0.05721	T	0.95	.	16.8884	0.86081	0.0:0.0:1.0:0.0	.	462	P08047	SP1_HUMAN	I	462;455	ENSP00000329357:V462I;ENSP00000404263:V455I	ENSP00000329357:V462I	V	+	1	0	SP1	52063382	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.318000	0.51975	2.595000	0.87683	0.467000	0.42956	GTC	SP1	-	NULL	ENSG00000185591		0.552	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP1	HGNC	protein_coding	OTTHUMT00000407044.1	-	0.00	31	0	G			53777115	+1	tier1	-	no_errors	ENST00000327443	ensembl	human	known	74_37	missense	35.71	27	15	SNP	1.000	A
SP110	3431	genome.wustl.edu	37	2	231037655	231037655	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:231037655G>A	ENST00000358662.4	-	15	1689	c.1611C>T	c.(1609-1611)tgC>tgT	p.C537C	AC009950.2_ENST00000594622.1_RNA|AC009950.2_ENST00000609120.1_RNA|AC009950.2_ENST00000600787.1_RNA|SP110_ENST00000258381.6_Silent_p.C537C|AC009950.2_ENST00000595586.2_RNA|AC009950.2_ENST00000454058.1_RNA	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	537					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.C537C(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		AGCACACCTCGCATTCATCCG	0.562																																																	1	Substitution - coding silent(1)	large_intestine(1)											141.0	100.0	114.0					2																	231037655		2203	4300	6503	SO:0001819	synonymous_variant	0			L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1611C>T	2.37:g.231037655G>A			B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Silent	SNP	pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.C537	ENST00000358662.4	37	c.1611	CCDS2474.1	2																																																																																			SP110	-	superfamily_SAND_dom-like,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000135899		0.562	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP110	HGNC	protein_coding	OTTHUMT00000332414.1	-	0.00	39	0	G	NM_080424		231037655	-1	tier1	-	no_errors	ENST00000258381	ensembl	human	known	74_37	silent	41.67	28	20	SNP	0.866	A
SP100	6672	genome.wustl.edu	37	2	231371095	231371095	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:231371095G>T	ENST00000264052.5	+	22	2303	c.1948G>T	c.(1948-1950)Gga>Tga	p.G650*	RN7SL834P_ENST00000461450.2_RNA|SP100_ENST00000409112.1_Nonsense_Mutation_p.G650*|SP100_ENST00000340126.4_Nonsense_Mutation_p.G650*	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	650	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAGACCGCGGAGCATCCAA	0.453																																																	0													77.0	76.0	77.0					2																	231371095		2203	4300	6503	SO:0001587	stop_gained	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1948G>T	2.37:g.231371095G>T	ENSP00000264052:p.Gly650*		B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Nonsense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.G650*	ENST00000264052.5	37	c.1948	CCDS2477.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.968251|6.968251	0.97971|0.97971	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000264052;ENST00000409112;ENST00000340126;ENST00000414648|ENST00000431952	.|T	.|0.73047	.|-0.71	4.65|4.65	-0.449|-0.449	0.12226|0.12226	.|.	.|.	.|.	.|.	.|.	.|T	.|0.47451	.|0.1446	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.29579	.|-1.0007	.|6	0.30078|0.15499	T|T	0.28|0.54	.|.	3.899|3.899	0.09152|0.09152	0.3621:0.0:0.4793:0.1586|0.3621:0.0:0.4793:0.1586	.|.	.|.	.|.	.|.	X|L	650;650;650;133|36	.|ENSP00000393679:R36L	ENSP00000264052:G650X|ENSP00000393679:R36L	G|R	+|+	1|2	0|0	SP100|SP100	231079339|231079339	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.194000|0.194000	0.17135|0.17135	-0.198000|-0.198000	0.10333|0.10333	-0.150000|-0.150000	0.13652|0.13652	GGA|CGG	SP100	-	pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom	ENSG00000067066		0.453	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2		0.00	24	0	G	NM_003113		231371095	+1			no_errors	ENST00000340126	ensembl	human	known	74_37	nonsense	7.55	49	4	SNP	0.000	T
SP4	6671	genome.wustl.edu	37	7	21469787	21469787	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:21469787G>T	ENST00000222584.3	+	3	1222	c.1004G>T	c.(1003-1005)aGt>aTt	p.S335I		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	335					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TTGACAAGCAGTGACACATTA	0.498																																																	0													131.0	91.0	105.0					7																	21469787		2203	4300	6503	SO:0001583	missense	0				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.1004G>T	7.37:g.21469787G>T	ENSP00000222584:p.Ser335Ile		O60402|Q32M52	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S335I	ENST00000222584.3	37	c.1004	CCDS5373.1	7	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849894	0.51270	.	.	ENSG00000105866	ENST00000222584	T	0.09911	2.93	4.94	4.94	0.65067	.	0.144799	0.64402	D	0.000006	T	0.16642	0.0400	M	0.65498	2.005	0.51767	D	0.999933	D	0.54772	0.968	B	0.42062	0.374	T	0.03086	-1.1074	10	0.45353	T	0.12	.	18.3501	0.90336	0.0:0.0:1.0:0.0	.	335	Q02446	SP4_HUMAN	I	335	ENSP00000222584:S335I	ENSP00000222584:S335I	S	+	2	0	SP4	21436312	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.043000	0.76572	2.559000	0.86315	0.655000	0.94253	AGT	SP4	-	NULL	ENSG00000105866		0.498	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP4	HGNC	protein_coding	OTTHUMT00000211617.2	-	0.00	89	0	G	NM_003112		21469787	+1	tier1	-	no_errors	ENST00000222584	ensembl	human	known	74_37	missense	5.95	79	5	SNP	1.000	T
SPAG17	200162	genome.wustl.edu	37	1	118539226	118539226	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:118539226G>T	ENST00000336338.5	-	33	4982	c.4917C>A	c.(4915-4917)gtC>gtA	p.V1639V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1639						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTACCTGGGGACATGTTCAC	0.299																																																	0													77.0	78.0	78.0					1																	118539226		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4917C>A	1.37:g.118539226G>T			Q8NAZ1|Q9NT21	Silent	SNP	NULL	p.V1639	ENST00000336338.5	37	c.4917	CCDS899.1	1																																																																																			SPAG17	-	NULL	ENSG00000155761		0.299	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	-	0.00	29	0	G	NM_206996		118539226	-1	tier1	-	no_errors	ENST00000336338	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.996	T
SPAG4	6676	genome.wustl.edu	37	20	34208642	34208642	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:34208642G>T	ENST00000374273.3	+	11	1226	c.1114G>T	c.(1114-1116)Ggg>Tgg	p.G372W		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	372	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			AGTTTCCTTGGGGAAATTCAC	0.547																																																	0													102.0	113.0	109.0					20																	34208642		2203	4300	6503	SO:0001583	missense	0			AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.1114G>T	20.37:g.34208642G>T	ENSP00000363391:p.Gly372Trp		O43648	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.G372W	ENST00000374273.3	37	c.1114	CCDS13259.1	20	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593373	0.66219	.	.	ENSG00000061656	ENST00000374273;ENST00000430878	T;T	0.61859	0.07;0.07	5.22	5.22	0.72569	Sad1/UNC-like, C-terminal (2);	0.180079	0.47852	D	0.000217	T	0.81927	0.4926	H	0.94462	3.54	0.49130	D	0.999756	D	0.89917	1.0	D	0.97110	1.0	D	0.86345	0.1707	10	0.87932	D	0	-1.901	14.1426	0.65329	0.0:0.0:1.0:0.0	.	372	Q9NPE6	SPAG4_HUMAN	W	372;76	ENSP00000363391:G372W;ENSP00000399231:G76W	ENSP00000363391:G372W	G	+	1	0	SPAG4	33672056	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	4.674000	0.61612	2.706000	0.92434	0.655000	0.94253	GGG	SPAG4	-	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	ENSG00000061656		0.547	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SPAG4	HGNC	protein_coding	OTTHUMT00000078896.1	-	0.00	75	0	G	NM_003116		34208642	+1	tier1	-	no_errors	ENST00000374273	ensembl	human	known	74_37	missense	6.49	72	5	SNP	1.000	T
SPAG9	9043	genome.wustl.edu	37	17	49075879	49075879	+	Silent	SNP	G	G	A	rs374965775		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:49075879G>A	ENST00000262013.7	-	15	1972	c.1764C>T	c.(1762-1764)tcC>tcT	p.S588S	SPAG9_ENST00000357122.4_Silent_p.S574S|SPAG9_ENST00000505279.1_Silent_p.S578S|SPAG9_ENST00000510283.1_Silent_p.S431S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	588					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TTTTCTTGACGGACGGAGTAA	0.433																																																	0													161.0	138.0	146.0					17																	49075879		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1764C>T	17.37:g.49075879G>A			A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Silent	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.S588	ENST00000262013.7	37	c.1764	CCDS45740.1	17																																																																																			SPAG9	-	NULL	ENSG00000008294		0.433	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	HGNC	protein_coding	OTTHUMT00000368543.2	-	0.00	82	0	G	NM_003971		49075879	-1	tier1	-	no_errors	ENST00000262013	ensembl	human	known	74_37	silent	47.13	46	41	SNP	0.165	A
SPATA13	221178	genome.wustl.edu	37	13	24876772	24876772	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:24876772G>A	ENST00000382095.4	+	12	2227	c.1820G>A	c.(1819-1821)gGc>gAc	p.G607D	SPATA13_ENST00000409126.1_Missense_Mutation_p.G467D|SPATA13_ENST00000424834.2_Missense_Mutation_p.G1232D|SPATA13_ENST00000399949.2_Missense_Mutation_p.G529D|RP11-307N16.6_ENST00000382141.4_Intron|SPATA13_ENST00000343003.6_Missense_Mutation_p.G551D|SPATA13_ENST00000382108.3_Missense_Mutation_p.G1232D	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	607	C-terminal tail.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CCGCACCAGGGCCTGCACCCC	0.612																																																	0													99.0	94.0	96.0					13																	24876772		2203	4300	6503	SO:0001583	missense	0			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.1820G>A	13.37:g.24876772G>A	ENSP00000371527:p.Gly607Asp		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.G1232D	ENST00000382095.4	37	c.3695	CCDS9305.1	13	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459676	0.26248	.	.	ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000399949;ENST00000409126;ENST00000343003	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	6.07	-0.25	0.13007	.	0.517440	0.24412	N	0.038750	T	0.13670	0.0331	N	0.08118	0	0.19945	N	0.999944	B;B;B;B;B	0.14438	0.0;0.0;0.0;0.0;0.01	B;B;B;B;B	0.20184	0.001;0.002;0.001;0.001;0.028	T	0.12268	-1.0554	10	0.27785	T	0.31	.	1.8124	0.03093	0.3491:0.2106:0.3327:0.1076	.	467;551;491;529;607	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-2;Q96N96	.;.;.;.;SPT13_HUMAN	D	1232;607;505;529;467;551	ENSP00000371542:G1232D;ENSP00000371527:G607D;ENSP00000401605:G505D;ENSP00000382830:G529D;ENSP00000386471:G467D;ENSP00000343631:G551D	ENSP00000343631:G551D	G	+	2	0	SPATA13	23774772	0.000000	0.05858	0.307000	0.25127	0.855000	0.48748	-0.033000	0.12246	-0.409000	0.07553	0.655000	0.94253	GGC	SPATA13	-	NULL	ENSG00000182957		0.612	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	-	0.00	45	0	G	NM_153023		24876772	+1	tier1	-	no_errors	ENST00000382108	ensembl	human	known	74_37	missense	32.35	46	22	SNP	0.445	A
SPATA2	9825	genome.wustl.edu	37	20	48522909	48522909	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:48522909G>T	ENST00000422556.1	-	3	1159	c.810C>A	c.(808-810)gcC>gcA	p.A270A	SPATA2_ENST00000289431.5_Silent_p.A270A|SPATA2_ENST00000543716.1_Silent_p.A133A	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	270					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GACTCAATGAGGCCTTCAGGG	0.617																																																	0													52.0	53.0	52.0					20																	48522909		2203	4300	6503	SO:0001819	synonymous_variant	0			AB018300	CCDS13422.1	20q13.13	2014-06-13			ENSG00000158480	ENSG00000158480			14681	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 145"""	607662					Standard	NM_001135773		Approved	KIAA0757, PD1, tamo, PPP1R145	uc002xuw.3	Q9UM82	OTTHUMG00000032704	ENST00000422556.1:c.810C>A	20.37:g.48522909G>T			E1P626|O94857	Silent	SNP	NULL	p.A270	ENST00000422556.1	37	c.810	CCDS13422.1	20																																																																																			SPATA2	-	NULL	ENSG00000158480		0.617	SPATA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA2	HGNC	protein_coding	OTTHUMT00000079658.1	-	0.00	76	0	G	NM_006038		48522909	-1	tier1	-	no_errors	ENST00000289431	ensembl	human	known	74_37	silent	8.62	53	5	SNP	0.999	T
SPATA20	64847	genome.wustl.edu	37	17	48625088	48625088	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:48625088G>A	ENST00000356488.4	+	1	160				SPATA20_ENST00000006658.6_Missense_Mutation_p.G29R|SPATA20_ENST00000393244.3_5'UTR	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			taggtgtcctggagtctggcc	0.577																																																	0													72.0	76.0	75.0					17																	48625088		2203	4300	6503	SO:0001627	intron_variant	0				CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.77+442G>A	17.37:g.48625088G>A			Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold	p.G29R	ENST00000356488.4	37	c.85	CCDS58563.1	17	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418215	0.25552	.	.	ENSG00000006282	ENST00000006658	T	0.24350	1.86	3.48	-0.24	0.13047	.	0.302701	0.17472	U	0.173064	T	0.11836	0.0288	.	.	.	0.09310	N	0.999991	B	0.02656	0.0	B	0.06405	0.002	T	0.14531	-1.0469	9	0.35671	T	0.21	-23.3829	1.0568	0.01592	0.1445:0.2194:0.3883:0.2477	.	29	Q8TB22-2	.	R	29	ENSP00000006658:G29R	ENSP00000006658:G29R	G	+	1	0	SPATA20	45980087	0.000000	0.05858	0.227000	0.23927	0.220000	0.24768	-0.717000	0.04986	0.515000	0.28320	0.555000	0.69702	GGA	SPATA20	-	NULL	ENSG00000006282		0.577	SPATA20-004	KNOWN	basic|CCDS	protein_coding	SPATA20	HGNC	protein_coding	OTTHUMT00000367651.1	-	0.00	33	0	G	NM_022827		48625088	+1	tier1	-	no_errors	ENST00000006658	ensembl	human	known	74_37	missense	51.16	21	22	SNP	0.020	A
SPATA21	374955	genome.wustl.edu	37	1	16748029	16748029	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:16748029G>T	ENST00000335496.1	-	5	601	c.119C>A	c.(118-120)cCa>cAa	p.P40Q	SPATA21_ENST00000466212.1_Intron|SPATA21_ENST00000540400.1_Intron	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	40							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CCCCGGTGCTGGGTGGGTCTC	0.642																																																	0													45.0	46.0	46.0					1																	16748029		2203	4300	6503	SO:0001583	missense	0				CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.119C>A	1.37:g.16748029G>T	ENSP00000335612:p.Pro40Gln		B9EK40|F5GXP5	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.P40Q	ENST00000335496.1	37	c.119	CCDS172.1	1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079241	0.36662	.	.	ENSG00000187144	ENST00000335496	T	0.64991	-0.13	3.14	2.23	0.28157	.	1.070250	0.07439	N	0.896977	T	0.45054	0.1323	L	0.29908	0.895	0.09310	N	0.999998	P	0.44877	0.845	B	0.36719	0.231	T	0.28299	-1.0048	10	0.31617	T	0.26	.	6.3451	0.21345	0.1372:0.0:0.8628:0.0	.	40	Q7Z572	SPT21_HUMAN	Q	40	ENSP00000335612:P40Q	ENSP00000335612:P40Q	P	-	2	0	SPATA21	16620616	0.136000	0.22515	0.010000	0.14722	0.313000	0.28021	1.451000	0.35145	0.912000	0.36772	0.555000	0.69702	CCA	SPATA21	-	NULL	ENSG00000187144		0.642	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA21	HGNC	protein_coding	OTTHUMT00000006677.2	-	0.00	43	0	G	NM_198546		16748029	-1	tier1	-	no_errors	ENST00000335496	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.011	T
SPATA3	130560	genome.wustl.edu	37	2	231867434	231867434	+	Missense_Mutation	SNP	C	C	T	rs376293973		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:231867434C>T	ENST00000452881.1	+	3	617	c.509C>T	c.(508-510)gCg>gTg	p.A170V	SPATA3_ENST00000424440.1_Missense_Mutation_p.A170V|SPATA3_ENST00000409956.1_3'UTR|SPATA3_ENST00000433428.2_Missense_Mutation_p.A170V|SPATA3_ENST00000455816.1_Missense_Mutation_p.A170V			Q8NHX4	SPTA3_HUMAN	spermatogenesis associated 3	170										endometrium(2)|lung(1)	3						CATCGTAACGCGTGTCCTCCA	0.552																																																	0								C	VAL/ALA	1,1383		0,1,691	94.0	94.0	94.0		509	1.1	0.0	2		94	0,3182		0,0,1591	no	missense	SPATA3	NM_139073.3	64	0,1,2282	TT,TC,CC		0.0,0.0723,0.0219	benign	170/193	231867434	1,4565	692	1591	2283	SO:0001583	missense	0			AY032925	CCDS2481.1	2q37.1	2008-02-05			ENSG00000173699	ENSG00000173699			17884	protein-coding gene	gene with protein product							Standard	NM_139073		Approved	TSARG1	uc010zmd.2	Q8NHX4	OTTHUMG00000133221	ENST00000452881.1:c.509C>T	2.37:g.231867434C>T	ENSP00000388895:p.Ala170Val		Q86WX5|Q8N9Y6	Missense_Mutation	SNP	NULL	p.A170V	ENST00000452881.1	37	c.509	CCDS2481.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.303|6.303	0.424056|0.424056	0.11928|0.11928	7.23E-4|7.23E-4	0.0|0.0	ENSG00000173699|ENSG00000173699	ENST00000424440;ENST00000452881;ENST00000433428;ENST00000455816;ENST00000355662;ENST00000423134|ENST00000440792	.|.	.|.	.|.	3.93|3.93	1.09|1.09	0.20402|0.20402	.|.	1.313740|.	0.05600|.	N|.	0.576229|.	T|T	0.20495|0.20495	0.0493|0.0493	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.17268|.	0.021|.	B|.	0.14578|.	0.011|.	T|T	0.20874|0.20874	-1.0262|-1.0262	9|6	0.49607|0.49607	T|T	0.09|0.09	0.0409|0.0409	3.7945|3.7945	0.08734|0.08734	0.189:0.6046:0.0:0.2064|0.189:0.6046:0.0:0.2064	.|.	161|.	Q8NHX4|.	SPTA3_HUMAN|.	V|C	170;170;170;170;161;61|79	.|.	ENSP00000347884:A161V|ENSP00000404510:R79C	A|R	+|+	2|1	0|0	SPATA3|SPATA3	231575678|231575678	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.016000|0.016000	0.13377|0.13377	0.227000|0.227000	0.20999|0.20999	-0.126000|-0.126000	0.14955|0.14955	GCG|CGT	SPATA3	-	NULL	ENSG00000173699		0.552	SPATA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SPATA3	HGNC	protein_coding	OTTHUMT00000256956.2		0.00	59	0	C	NM_139073		231867434	+1			no_errors	ENST00000424440	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.000	T
AKNAD1	254268	genome.wustl.edu	37	1	109400924	109400927	+	5'Flank	DEL	TTTT	TTTT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:109400924_109400927delTTTT	ENST00000370001.3	-	0	0				SPATA42_ENST00000417241.1_RNA|SPATA42_ENST00000369989.2_RNA|AKNAD1_ENST00000369995.3_5'Flank|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1							cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AACTTTTGTCTTTTTTTTTTTTTT	0.358																																																	0																																										SO:0001631	upstream_gene_variant	0			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231		1.37:g.109400932_109400935delTTTT	Exception_encountered		B9EK62|Q5T1N0|Q8N990|Q8NCN9	RNA	DEL	-	NULL	ENST00000370001.3	37	NULL	CCDS791.2	1																																																																																			SPATA42	-	-	ENSG00000203897		0.358	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA42	HGNC	protein_coding	OTTHUMT00000030923.2		0.00	21	0	TTTT	NM_152763		109400927	+1	tier1		no_errors	ENST00000417241	ensembl	human	known	74_37	rna	35.00	13	7	DEL	0.000:0.001:0.012:0.000	-
SPATA5L1	79029	genome.wustl.edu	37	15	45713277	45713277	+	Missense_Mutation	SNP	G	G	T	rs551616759		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:45713277G>T	ENST00000305560.6	+	8	2230	c.2131G>T	c.(2131-2133)Gca>Tca	p.A711S	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	711						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TGGACTAGACGCAACTACAGT	0.348																																																	0													64.0	66.0	66.0					15																	45713277		2198	4298	6496	SO:0001583	missense	0			AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.2131G>T	15.37:g.45713277G>T	ENSP00000305494:p.Ala711Ser		C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A711S	ENST00000305560.6	37	c.2131	CCDS10123.1	15	.	.	.	.	.	.	.	.	.	.	G	7.265	0.606031	0.14002	.	.	ENSG00000171763	ENST00000305560	D	0.94723	-3.5	5.6	2.71	0.32032	.	0.407786	0.26446	N	0.024335	D	0.87669	0.6235	N	0.17345	0.48	0.38232	D	0.941053	B	0.06786	0.001	B	0.12837	0.008	T	0.79992	-0.1569	10	0.34782	T	0.22	-24.6673	10.8184	0.46591	0.2287:0.0:0.7713:0.0	.	711	Q9BVQ7	SPA5L_HUMAN	S	711	ENSP00000305494:A711S	ENSP00000305494:A711S	A	+	1	0	SPATA5L1	43500569	0.967000	0.33354	0.159000	0.22649	0.131000	0.20780	2.425000	0.44723	0.313000	0.23062	-1.149000	0.01842	GCA	SPATA5L1	-	superfamily_P-loop_NTPase	ENSG00000171763		0.348	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SPATA5L1	HGNC	protein_coding	OTTHUMT00000254218.1	-	0.00	63	0	G	NM_024063		45713277	+1	tier1	-	no_errors	ENST00000305560	ensembl	human	known	74_37	missense	6.41	73	5	SNP	0.438	T
SPATA6	54558	genome.wustl.edu	37	1	48821240	48821240	+	Intron	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:48821240delT	ENST00000371847.3	-	11	1359				SPATA6_ENST00000371843.3_Intron|SPATA6_ENST00000396199.3_Intron	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GCTTGCTTTCTTTTTTTCTTC	0.338																																																	0																																										SO:0001627	intron_variant	0			AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1194+101A>-	1.37:g.48821240delT			Q5T3N7|Q8WUE6	RNA	DEL	-	NULL	ENST00000371847.3	37	NULL	CCDS551.1	1																																																																																			SPATA6	-	-	ENSG00000132122		0.338	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA6	HGNC	protein_coding	OTTHUMT00000021347.1		0.00	11	0	T	NM_019073		48821240	-1	tier1		no_errors	ENST00000487629	ensembl	human	known	74_37	rna	42.86	8	6	DEL	0.023	-
SPECC1	92521	genome.wustl.edu	37	17	20013849	20013849	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:20013849C>T	ENST00000261503.5	+	3	308	c.257C>T	c.(256-258)aCg>aTg	p.T86M	SPECC1_ENST00000395527.4_Missense_Mutation_p.T86M|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395529.3_Missense_Mutation_p.T86M	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	86					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TCGGAGCTCACGGAGAGCCGC	0.652																																																	0													27.0	30.0	29.0					17																	20013849		2203	4300	6503	SO:0001583	missense	0			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.257C>T	17.37:g.20013849C>T	ENSP00000261503:p.Thr86Met		B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.T86M	ENST00000261503.5	37	c.257	CCDS32590.1	17	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569053	0.28003	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529	T;T	0.64618	-0.11;2.86	5.47	5.47	0.80525	.	0.590398	0.17737	N	0.163709	T	0.56001	0.1956	L	0.34521	1.04	0.80722	D	1	P;P	0.43519	0.809;0.589	B;B	0.40677	0.337;0.054	T	0.61108	-0.7129	10	0.62326	D	0.03	0.1999	17.2037	0.86913	0.0:1.0:0.0:0.0	.	86;86	Q5M775-2;Q5M775	.;CYTSB_HUMAN	M	86	ENSP00000261503:T86M;ENSP00000378900:T86M	ENSP00000261503:T86M	T	+	2	0	SPECC1	19954441	0.083000	0.21467	0.006000	0.13384	0.003000	0.03518	4.759000	0.62227	2.749000	0.94314	0.655000	0.94253	ACG	SPECC1	-	NULL	ENSG00000128487		0.652	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1	HGNC	protein_coding	OTTHUMT00000441206.1	-	0.00	42	0	C	NM_152904		20013849	+1	tier1	-	no_errors	ENST00000261503	ensembl	human	known	74_37	missense	55.56	16	20	SNP	0.026	T
SPEF2	79925	genome.wustl.edu	37	5	35659190	35659190	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:35659190G>A	ENST00000356031.3	+	8	1202	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	SPEF2_ENST00000440995.2_Missense_Mutation_p.V350M|SPEF2_ENST00000282469.6_Missense_Mutation_p.V350M|SPEF2_ENST00000509059.1_Missense_Mutation_p.V350M	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	350					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGGATTGCCGTGCAGCTCAT	0.458																																																	0													51.0	53.0	52.0					5																	35659190		2203	4300	6503	SO:0001583	missense	0			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1048G>A	5.37:g.35659190G>A	ENSP00000348314:p.Val350Met		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.V350M	ENST00000356031.3	37	c.1048	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372092	0.82573	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.55	5.55	0.83447	.	0.160123	0.44688	D	0.000438	T	0.44705	0.1306	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.987	T	0.31724	-0.9933	10	0.62326	D	0.03	.	19.5024	0.95100	0.0:0.0:1.0:0.0	.	350;350;350	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	M	350	ENSP00000282469:V350M;ENSP00000348314:V350M;ENSP00000421593:V350M;ENSP00000412125:V350M	ENSP00000282469:V350M	V	+	1	0	SPEF2	35694947	1.000000	0.71417	0.971000	0.41717	0.986000	0.74619	5.764000	0.68826	2.609000	0.88269	0.491000	0.48974	GTG	SPEF2	-	NULL	ENSG00000152582		0.458	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	HGNC	protein_coding	OTTHUMT00000367199.1	-	0.00	48	0	G	NM_144722		35659190	+1	tier1	-	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	21.69	65	18	SNP	0.998	A
SPEG	10290	genome.wustl.edu	37	2	220348876	220348876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:220348876delC	ENST00000312358.7	+	30	6823	c.6691delC	c.(6691-6693)cccfs	p.P2232fs	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2232	Pro-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCTGCACCACCCCCCCAGGC	0.677																																																	0										15,3729		3,9,1860	24.0	36.0	32.0			-0.7	0.0	2		32	40,7784		11,18,3883	no	frameshift	SPEG	NM_005876.4		14,27,5743	A1A1,A1R,RR		0.5112,0.4006,0.4754			220348876	55,11513	1993	4122	6115	SO:0001589	frameshift_variant	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.6691delC	2.37:g.220348876delC	ENSP00000311684:p.Pro2232fs		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.Q2233fs	ENST00000312358.7	37	c.6691	CCDS42824.1	2																																																																																			SPEG	-	NULL	ENSG00000072195		0.677	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2		0.00	58	0	C	NM_005876		220348876	+1	tier1		no_errors	ENST00000312358	ensembl	human	novel	74_37	frame_shift_del	33.33	34	17	DEL	0.034	-
SPEM1	374768	genome.wustl.edu	37	17	7324849	7324849	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:7324849delC	ENST00000323675.3	+	3	880	c.855delC	c.(853-855)tacfs	p.Y285fs	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	285					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.Y285*(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CCGGCTGCTACCCCCTAGCCT	0.592																																																	1	Substitution - Nonsense(1)	lung(1)											26.0	30.0	29.0					17																	7324849		1954	4139	6093	SO:0001589	frameshift_variant	0			AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.855delC	17.37:g.7324849delC	ENSP00000315554:p.Tyr285fs			Frame_Shift_Del	DEL	NULL	p.L287fs	ENST00000323675.3	37	c.855	CCDS42254.1	17																																																																																			SPEM1	-	NULL	ENSG00000181323		0.592	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEM1	HGNC	protein_coding	OTTHUMT00000440932.1		0.00	36	0	C	NM_199339		7324849	+1	tier1		no_errors	ENST00000323675	ensembl	human	known	74_37	frame_shift_del	34.15	27	14	DEL	0.492	-
SPHKAP	80309	genome.wustl.edu	37	2	228882440	228882440	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:228882440C>A	ENST00000392056.3	-	7	3176	c.3130G>T	c.(3130-3132)Gcc>Tcc	p.A1044S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1044S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1044						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATGATCTTGGCTGCCACTTCA	0.517																																																	0													87.0	81.0	83.0					2																	228882440		2203	4300	6503	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3130G>T	2.37:g.228882440C>A	ENSP00000375909:p.Ala1044Ser		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.A1044S	ENST00000392056.3	37	c.3130	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782464	0.90282	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.21361	2.04;2.01	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.39655	0.1086	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.07158	-1.0787	10	0.87932	D	0	-22.2793	19.6516	0.95815	0.0:1.0:0.0:0.0	.	75;1044;1044	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	S	1044	ENSP00000375909:A1044S;ENSP00000339886:A1044S	ENSP00000339886:A1044S	A	-	1	0	SPHKAP	228590684	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.266000	0.58871	2.894000	0.99253	0.655000	0.94253	GCC	SPHKAP	-	NULL	ENSG00000153820		0.517	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	-	0.00	21	0	C	NM_030623		228882440	-1	tier1	-	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	50.00	13	13	SNP	1.000	A
SPIRE2	84501	genome.wustl.edu	37	16	89920954	89920954	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:89920954G>A	ENST00000378247.3	+	5	829	c.786G>A	c.(784-786)gtG>gtA	p.V262V	SPIRE2_ENST00000393062.2_Silent_p.V262V	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	262	WH2 1. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGAAGAAGGTGCAAGAGCAGG	0.637																																																	0													75.0	73.0	74.0					16																	89920954		2197	4295	6492	SO:0001819	synonymous_variant	0			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.786G>A	16.37:g.89920954G>A			A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Silent	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.V262	ENST00000378247.3	37	c.786	CCDS32516.1	16																																																																																			SPIRE2	-	NULL	ENSG00000204991		0.637	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIRE2	HGNC	protein_coding	OTTHUMT00000421843.1	-	0.00	51	0	G	XM_047462		89920954	+1	tier1	-	no_errors	ENST00000378247	ensembl	human	known	74_37	silent	21.74	36	10	SNP	0.998	A
SPOCK1	6695	genome.wustl.edu	37	5	136476303	136476303	+	Missense_Mutation	SNP	C	C	T	rs151283855		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:136476303C>T	ENST00000394945.1	-	4	482	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	SPOCK1_ENST00000282223.7_Missense_Mutation_p.A105T	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	105					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACACACAGGGCGGTCTGGTAG	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12833	0.0		0.0	False		,,,				2504	0.0																0								C	THR/ALA	5,4401	9.9+/-24.2	0,5,2198	64.0	53.0	56.0		313	5.7	0.9	5	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SPOCK1	NM_004598.3	58	0,6,6497	TT,TC,CC		0.0116,0.1135,0.0461	probably-damaging	105/440	136476303	6,13000	2203	4300	6503	SO:0001583	missense	0			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.313G>A	5.37:g.136476303C>T	ENSP00000378401:p.Ala105Thr		B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.A105T	ENST00000394945.1	37	c.313	CCDS4191.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.407381	0.96051	0.001135	1.16E-4	ENSG00000152377	ENST00000394945;ENST00000282223;ENST00000505690	T;T;T	0.59906	0.23;0.23;0.23	5.74	5.74	0.90152	.	0.061993	0.64402	D	0.000004	T	0.75838	0.3904	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.77629	-0.2516	10	0.87932	D	0	.	17.4147	0.87496	0.0:1.0:0.0:0.0	.	105	Q08629	TICN1_HUMAN	T	105	ENSP00000378401:A105T;ENSP00000282223:A105T;ENSP00000424517:A105T	ENSP00000282223:A105T	A	-	1	0	SPOCK1	136504202	1.000000	0.71417	0.915000	0.36163	0.979000	0.70002	7.593000	0.82686	2.704000	0.92352	0.650000	0.86243	GCC	SPOCK1	-	NULL	ENSG00000152377		0.607	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOCK1	HGNC	protein_coding	OTTHUMT00000251222.1	-	0.00	83	0	C	NM_004598		136476303	-1	tier1	rs151283855	no_errors	ENST00000282223	ensembl	human	known	74_37	missense	36.78	54	32	SNP	1.000	T
SPOCK2	9806	genome.wustl.edu	37	10	73827995	73827995	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:73827995C>T	ENST00000373109.2	-	6	983	c.539G>A	c.(538-540)tGc>tAc	p.C180Y	SPOCK2_ENST00000536168.1_Missense_Mutation_p.C180Y|SPOCK2_ENST00000317376.4_Missense_Mutation_p.C180Y|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	180	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGGGCAGGGGCAGGGGCCCTC	0.672																																																	0													26.0	22.0	23.0					10																	73827995		2199	4298	6497	SO:0001583	missense	0			AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.539G>A	10.37:g.73827995C>T	ENSP00000362201:p.Cys180Tyr		C9J767|Q6UW87	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.C180Y	ENST00000373109.2	37	c.539	CCDS7313.1	10	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359595	0.82353	.	.	ENSG00000107742	ENST00000373109;ENST00000317376;ENST00000536168	D;D	0.96913	-4.17;-4.17	5.33	5.33	0.75918	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.108957	0.64402	D	0.000001	D	0.98883	0.9622	H	0.98542	4.26	0.80722	D	1	D	0.61697	0.99	P	0.62184	0.899	D	0.99513	1.0956	10	0.87932	D	0	.	18.6151	0.91300	0.0:1.0:0.0:0.0	.	180	Q92563	TICN2_HUMAN	Y	177;180;180	ENSP00000321108:C180Y;ENSP00000439445:C180Y	ENSP00000321108:C180Y	C	-	2	0	SPOCK2	73498001	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.248000	0.78268	2.502000	0.84385	0.407000	0.27541	TGC	SPOCK2	-	pfam_Kazal_dom,smart_Kazal_dom	ENSG00000107742		0.672	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK2	HGNC	protein_coding	OTTHUMT00000048560.2	-	0.00	74	0	C			73827995	-1	tier1	-	no_errors	ENST00000317376	ensembl	human	known	74_37	missense	39.53	26	17	SNP	1.000	T
SPP1	6696	genome.wustl.edu	37	4	88903739	88903739	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:88903739C>T	ENST00000395080.3	+	7	763	c.636C>T	c.(634-636)aaC>aaT	p.N212N	SPP1_ENST00000237623.7_Silent_p.N198N|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Silent_p.N185N	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	212					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		AGGACCTGAACGCGCCTTCTG	0.532																																																	0													155.0	141.0	146.0					4																	88903739		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.636C>T	4.37:g.88903739C>T			B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Silent	SNP	pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin	p.N212	ENST00000395080.3	37	c.636	CCDS43250.1	4																																																																																			SPP1	-	pfam_Osteopontin,smart_Osteopontin	ENSG00000118785		0.532	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP1	HGNC	protein_coding	OTTHUMT00000253048.3	-	0.00	68	0	C			88903739	+1	tier1	-	no_errors	ENST00000395080	ensembl	human	known	74_37	silent	35.29	44	24	SNP	0.000	T
SPRED1	161742	genome.wustl.edu	37	15	38545225	38545225	+	5'UTR	DEL	G	G	-	rs531519324	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:38545225delG	ENST00000299084.4	+	0	699				SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1						inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GTTCCCGGCTGGGGGGGTACC	0.766									Legius syndrome				GGGGGGG|GGGGGGG|GGGGGG|deletion	19	0.00379393	0.0	0.0274	5008	,	,		8581	0.0		0.0	False		,,,				2504	0.0				Melanoma(196;2146 2959 7698 16532)												0																																										SO:0001623	5_prime_UTR_variant	0	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.-162G>-	15.37:g.38545225delG			B2RPJ8|Q05D53|Q8N256	RNA	DEL	-	NULL	ENST00000299084.4	37	NULL	CCDS32193.1	15																																																																																			SPRED1	-	-	ENSG00000166068		0.766	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED1	HGNC	protein_coding	OTTHUMT00000418217.1		0.00	12	0	G			38545225	+1	tier1		no_errors	ENST00000561205	ensembl	human	known	74_37	rna	40.00	6	4	DEL	0.996	-
SPTA1	6708	genome.wustl.edu	37	1	158623217	158623217	+	Splice_Site	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:158623217T>C	ENST00000368147.4	-	22	3217		c.e22-2			NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCACCAGTCCTGAAGGGAGAG	0.532																																																	0													69.0	69.0	69.0					1																	158623217		2018	4173	6191	SO:0001630	splice_region_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3037-2A>G	1.37:g.158623217T>C			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	-	e22-2	ENST00000368147.4	37	c.3037-2	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147322	0.57151	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7384	0.62833	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTA1	156889841	1.000000	0.71417	0.947000	0.38551	0.549000	0.35272	7.219000	0.78000	2.127000	0.65507	0.533000	0.62120	.	SPTA1	-	-	ENSG00000163554		0.532	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0.00	36	0	T	NM_003126	Intron	158623217	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	splice_site	39.02	25	16	SNP	1.000	C
SPTBN1	6711	genome.wustl.edu	37	2	54891759	54891759	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:54891759C>T	ENST00000356805.4	+	33	6871	c.6590C>T	c.(6589-6591)tCg>tTg	p.S2197L	AC093110.3_ENST00000456363.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2197	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAGACACCTTCGGCCCAGATG	0.587																																																	0													76.0	77.0	77.0					2																	54891759		2203	4300	6503	SO:0001583	missense	0				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6590C>T	2.37:g.54891759C>T	ENSP00000349259:p.Ser2197Leu		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.S2197L	ENST00000356805.4	37	c.6590	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437340	0.43224	.	.	ENSG00000115306	ENST00000356805	T	0.31510	1.49	5.84	4.97	0.65823	Pleckstrin homology domain (1);	0.420938	0.24325	N	0.039506	T	0.30230	0.0758	L	0.56769	1.78	0.80722	D	1	B;P	0.35982	0.005;0.531	B;B	0.30029	0.007;0.11	T	0.07271	-1.0781	10	0.42905	T	0.14	.	15.2227	0.73327	0.0:0.9326:0.0:0.0674	.	187;2197	B4DIF8;Q01082	.;SPTB2_HUMAN	L	2197	ENSP00000349259:S2197L	ENSP00000349259:S2197L	S	+	2	0	SPTBN1	54745263	0.001000	0.12720	0.817000	0.32601	0.993000	0.82548	1.635000	0.37134	1.492000	0.48499	0.591000	0.81541	TCG	SPTBN1	-	pirsf_Spectrin_bsu,pfscan_Pleckstrin_homology	ENSG00000115306		0.587	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	-	0.00	29	0	C			54891759	+1	tier1	-	no_errors	ENST00000356805	ensembl	human	known	74_37	missense	28.12	23	9	SNP	0.478	T
SPTBN2	6712	genome.wustl.edu	37	11	66458942	66458942	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:66458942C>T	ENST00000533211.1	-	27	5709	c.5378G>A	c.(5377-5379)cGg>cAg	p.R1793Q	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1793Q|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1793Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1793					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CACCTGACCCCGTGTGTCCAG	0.692																																																	0													47.0	38.0	41.0					11																	66458942		2200	4295	6495	SO:0001583	missense	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5378G>A	11.37:g.66458942C>T	ENSP00000432568:p.Arg1793Gln		O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R1793Q	ENST00000533211.1	37	c.5378	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.571428	0.96553	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.76060	-0.99;-0.99;-0.99	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.90786	0.7107	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93560	0.6894	10	0.62326	D	0.03	.	16.7391	0.85454	0.0:1.0:0.0:0.0	.	1793	O15020	SPTN2_HUMAN	Q	1793	ENSP00000432568:R1793Q;ENSP00000311489:R1793Q;ENSP00000433593:R1793Q	ENSP00000311489:R1793Q	R	-	2	0	SPTBN2	66215518	0.995000	0.38212	0.989000	0.46669	0.916000	0.54674	7.604000	0.82830	2.480000	0.83734	0.655000	0.94253	CGG	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000173898		0.692	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	-	0.00	44	0	C	NM_006946		66458942	-1	tier1	-	no_errors	ENST00000309996	ensembl	human	known	74_37	missense	44.44	15	12	SNP	1.000	T
SPTBN2	6712	genome.wustl.edu	37	11	66466466	66466466	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:66466466G>A	ENST00000533211.1	-	19	4195	c.3864C>T	c.(3862-3864)caC>caT	p.H1288H	SPTBN2_ENST00000309996.2_Silent_p.H1288H|SPTBN2_ENST00000529997.1_Silent_p.H1288H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1288					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)	p.H1288H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCTCACCTCGTGACAATCTT	0.572																																																	1	Substitution - coding silent(1)	large_intestine(1)											69.0	68.0	68.0					11																	66466466		2200	4295	6495	SO:0001819	synonymous_variant	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3864C>T	11.37:g.66466466G>A			O14872|O14873	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.H1288	ENST00000533211.1	37	c.3864	CCDS8150.1	11																																																																																			SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000173898		0.572	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	-	0.00	33	0	G	NM_006946		66466466	-1	tier1	-	no_errors	ENST00000309996	ensembl	human	known	74_37	silent	44.12	19	15	SNP	0.222	A
SPTBN2	6712	genome.wustl.edu	37	11	66481107	66481107	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:66481107G>T	ENST00000533211.1	-	8	1098	c.767C>A	c.(766-768)cCc>cAc	p.P256H	SPTBN2_ENST00000309996.2_Missense_Mutation_p.P256H|RN7SL12P_ENST00000473849.2_RNA|SPTBN2_ENST00000529997.1_Missense_Mutation_p.P256H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	256	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCACCTTCGGGATCCAGCAG	0.512																																																	0													147.0	144.0	145.0					11																	66481107		2200	4295	6495	SO:0001583	missense	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.767C>A	11.37:g.66481107G>T	ENSP00000432568:p.Pro256His		O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.P256H	ENST00000533211.1	37	c.767	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757839	0.69648	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.65549	-0.16;-0.16;-0.16	4.86	4.86	0.63082	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.87002	0.6069	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91899	0.5530	10	0.87932	D	0	.	16.9451	0.86228	0.0:0.0:1.0:0.0	.	256	O15020	SPTN2_HUMAN	H	256	ENSP00000432568:P256H;ENSP00000311489:P256H;ENSP00000433593:P256H	ENSP00000311489:P256H	P	-	2	0	SPTBN2	66237683	1.000000	0.71417	0.958000	0.39756	0.342000	0.28953	9.595000	0.98260	2.521000	0.84997	0.557000	0.71058	CCC	SPTBN2	-	pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000173898		0.512	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	-	0.00	105	0	G	NM_006946		66481107	-1	tier1	-	no_errors	ENST00000309996	ensembl	human	known	74_37	missense	5.60	118	7	SNP	1.000	T
SPTBN4	57731	genome.wustl.edu	37	19	41055125	41055125	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:41055125C>T	ENST00000352632.3	+	21	4476	c.4390C>T	c.(4390-4392)Cgc>Tgc	p.R1464C	SPTBN4_ENST00000392025.1_Missense_Mutation_p.R207C|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R140C|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1464C|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1464C|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1464C			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1464					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGTGGTACCGCGAGGTGGG	0.701																																																	0													7.0	7.0	7.0					19																	41055125		2039	4048	6087	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.4390C>T	19.37:g.41055125C>T	ENSP00000263373:p.Arg1464Cys		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R1464C	ENST00000352632.3	37	c.4390	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305850	0.81247	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.51574	0.7;0.7;0.7;1.32	4.62	4.62	0.57501	.	0.216058	0.31041	N	0.008378	T	0.59362	0.2188	L	0.52011	1.625	0.48185	D	0.999609	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;P;D;D	0.73708	0.967;0.981;0.886;0.926;0.973	T	0.60994	-0.7152	10	0.66056	D	0.02	.	10.1503	0.42788	0.3137:0.6863:0.0:0.0	.	207;207;140;1464;1464	Q9H254-3;C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;.;SPTN4_HUMAN;.	C	1464;1464;1464;207;140	ENSP00000263373:R1464C;ENSP00000340345:R1464C;ENSP00000375879:R207C;ENSP00000375877:R140C	ENSP00000340345:R1464C	R	+	1	0	SPTBN4	45746965	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.270000	0.43355	2.393000	0.81446	0.484000	0.47621	CGC	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.701	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	-	0.00	20	0	C			41055125	+1	tier1	-	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	T
SPTBN5	51332	genome.wustl.edu	37	15	42171563	42171563	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:42171563A>G	ENST00000320955.6	-	16	3304	c.3077T>C	c.(3076-3078)cTg>cCg	p.L1026P		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1026					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCCTGGCTGCAGGGCCTCCAG	0.632																																																	0													34.0	38.0	37.0					15																	42171563		2008	4160	6168	SO:0001583	missense	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.3077T>C	15.37:g.42171563A>G	ENSP00000317790:p.Leu1026Pro			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L1026P	ENST00000320955.6	37	c.3077		15	.	.	.	.	.	.	.	.	.	.	.	13.86	2.362820	0.41902	.	.	ENSG00000137877	ENST00000320955	T	0.73258	-0.73	4.29	1.91	0.25777	.	0.534869	0.16342	N	0.218626	T	0.59418	0.2192	L	0.60455	1.87	0.09310	N	1	P	0.39480	0.675	B	0.31442	0.13	T	0.44483	-0.9325	10	0.39692	T	0.17	.	8.6368	0.33953	0.7426:0.0:0.2574:0.0	.	1026	Q9NRC6	SPTN5_HUMAN	P	1026	ENSP00000317790:L1026P	ENSP00000317790:L1026P	L	-	2	0	SPTBN5	39958855	0.006000	0.16342	0.000000	0.03702	0.145000	0.21501	0.865000	0.27940	-0.183000	0.10585	-2.028000	0.00425	CTG	SPTBN5	-	smart_Spectrin/alpha-actinin	ENSG00000137877		0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	-	0.00	62	0	A	NM_016642		42171563	-1	tier1	-	no_errors	ENST00000320955	ensembl	human	known	74_37	missense	30.36	39	17	SNP	0.000	G
SPTBN5	51332	genome.wustl.edu	37	15	42185690	42185690	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:42185690A>G	ENST00000320955.6	-	2	233	c.6T>C	c.(4-6)gcT>gcC	p.A2A	RP11-23P13.6_ENST00000568861.1_RNA|RP11-23P13.6_ENST00000564432.2_RNA|RP11-23P13.6_ENST00000562920.1_RNA|RP11-23P13.7_ENST00000605942.1_lincRNA|RP11-23P13.6_ENST00000309874.2_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2	Actin-binding.				actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGGGCTGACCAGCCATCAGCC	0.642																																																	0													10.0	11.0	11.0					15																	42185690		1966	4132	6098	SO:0001819	synonymous_variant	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6T>C	15.37:g.42185690A>G				Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.A2	ENST00000320955.6	37	c.6		15																																																																																			SPTBN5	-	NULL	ENSG00000137877		0.642	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	-	0.00	22	0	A	NM_016642		42185690	-1	tier1	-	no_errors	ENST00000320955	ensembl	human	known	74_37	silent	32.14	19	9	SNP	0.002	G
SRC	6714	genome.wustl.edu	37	20	36033634	36033635	+	3'UTR	DEL	TT	TT	-	rs11479944|rs530973616	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:36033634_36033635delTT	ENST00000373578.2	+	0	3812_3813				SRC_ENST00000373558.2_3'UTR|SRC_ENST00000373567.2_3'UTR|SRC_ENST00000360723.4_3'UTR|SRC_ENST00000358208.4_3'UTR|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000445403.1_3'UTR	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	AATACTGTCCTTTTTTTTTTTT	0.515																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.*1853TT>-	20.37:g.36033644_36033645delTT			E1P5V4|Q76P87|Q86VB9|Q9H5A8	RNA	DEL	-	NULL	ENST00000373578.2	37	NULL	CCDS13294.1	20																																																																																			SRC	-	-	ENSG00000197122		0.515	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SRC	HGNC	protein_coding	OTTHUMT00000268142.1		0.00	43	0	TT	NM_005417		36033635	+1	tier1		no_errors	ENST00000477066	ensembl	human	known	74_37	rna	47.22	19	17	DEL	0.070:0.027	-
SRM	6723	genome.wustl.edu	37	1	11115982	11115982	+	Splice_Site	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:11115982G>T	ENST00000376957.2	-	6	701	c.621C>A	c.(619-621)ggC>ggA	p.G207G		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	207	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	ACTGGCACTCGCCTGGGGGCC	0.682																																																	0													30.0	29.0	29.0					1																	11115982		2202	4300	6502	SO:0001630	splice_region_variant	0			BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.620-1C>A	1.37:g.11115982G>T			B1AKP9|Q15511	Silent	SNP	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	p.G207	ENST00000376957.2	37	c.621	CCDS125.1	1																																																																																			SRM	-	pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase	ENSG00000116649		0.682	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRM	HGNC	protein_coding	OTTHUMT00000006056.1		0.00	59	0	G	NM_003132	Silent	11115982	-1			no_errors	ENST00000376957	ensembl	human	known	74_37	silent	7.89	35	3	SNP	0.001	T
SRRM2	23524	genome.wustl.edu	37	16	2814067	2814069	+	In_Frame_Del	DEL	CCT	CCT	-	rs560663886		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:2814067_2814069delCCT	ENST00000301740.8	+	11	4087_4089	c.3538_3540delCCT	c.(3538-3540)cctdel	p.P1181del		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1181	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TACTGCATCACCTCCTAGACAGA	0.468																																																	0																																										SO:0001651	inframe_deletion	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.3538_3540delCCT	16.37:g.2814070_2814072delCCT	ENSP00000301740:p.Pro1181del		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	In_Frame_Del	DEL	pfam_mRNA_splic_Cwf21	p.P1181in_frame_del	ENST00000301740.8	37	c.3538_3540	CCDS32373.1	16																																																																																			SRRM2	-	NULL	ENSG00000167978		0.468	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1		0.00	13	0	CCT			2814069	+1	tier1		no_errors	ENST00000301740	ensembl	human	known	74_37	in_frame_del	56.25	7	9	DEL	0.100:0.225:0.237	-
SRSF6	6431	genome.wustl.edu	37	20	42088772	42088772	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:42088772C>T	ENST00000244020.3	+	4	587	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	161	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TGACATGAAGCGTGCTTTGGA	0.448																																																	0													124.0	121.0	122.0					20																	42088772		2203	4298	6501	SO:0001583	missense	0			U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.481C>T	20.37:g.42088772C>T	ENSP00000244020:p.Arg161Cys		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.R161C	ENST00000244020.3	37	c.481	CCDS13318.1	20	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402067	0.62288	.	.	ENSG00000124193	ENST00000244020	T	0.17691	2.26	6.08	6.08	0.98989	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.042694	0.85682	D	0.000000	T	0.40546	0.1121	M	0.87617	2.895	0.80722	D	1	P;D	0.55800	0.94;0.973	B;P	0.54270	0.43;0.747	T	0.35943	-0.9768	10	0.66056	D	0.02	.	14.3009	0.66352	0.1487:0.8513:0.0:0.0	.	161;161	Q13247;A8K588	SRSF6_HUMAN;.	C	161	ENSP00000244020:R161C	ENSP00000244020:R161C	R	+	1	0	SRSF6	41522186	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.818000	0.48041	2.894000	0.99253	0.591000	0.81541	CGT	SRSF6	-	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	ENSG00000124193		0.448	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF6	HGNC	protein_coding	OTTHUMT00000079292.1	-	0.00	44	0	C	NM_006275		42088772	+1	tier1	-	no_errors	ENST00000244020	ensembl	human	known	74_37	missense	35.42	31	17	SNP	1.000	T
SSBP3	23648	genome.wustl.edu	37	1	54692427	54692427	+	3'UTR	DEL	A	A	-	rs548654307		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:54692427delA	ENST00000371320.3	-	0	1954				SSBP3_ENST00000417664.2_3'UTR|SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000371319.3_3'UTR	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3						head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						ATTTTCCCCCAAAAAACCCCC	0.348																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"""single-stranded DNA-binding protein 3"""			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.*377T>-	1.37:g.54692427delA			A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	RNA	DEL	-	NULL	ENST00000371320.3	37	NULL	CCDS591.1	1																																																																																			SSBP3	-	-	ENSG00000157216		0.348	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SSBP3	HGNC	protein_coding	OTTHUMT00000022721.1		0.00	55	0	A	NM_018070		54692427	-1	tier1		no_errors	ENST00000326956	ensembl	human	known	74_37	rna	32.73	37	18	DEL	0.000	-
SSH3	54961	genome.wustl.edu	37	11	67076853	67076853	+	Intron	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:67076853G>T	ENST00000308127.4	+	11	1239				SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Intron|SSH3_ENST00000532181.1_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3						protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTGGCCTTGGGCCCTCTGGG	0.597																																																	0													85.0	85.0	85.0					11																	67076853		2200	4295	6495	SO:0001627	intron_variant	0			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1062-15G>T	11.37:g.67076853G>T			Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	RNA	SNP	-	NULL	ENST00000308127.4	37	NULL	CCDS8157.1	11																																																																																			SSH3	-	-	ENSG00000172830		0.597	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH3	HGNC	protein_coding	OTTHUMT00000393167.1	-	0.00	61	0	G	NM_018276		67076853	+1	tier1	-	no_errors	ENST00000531495	ensembl	human	putative	74_37	rna	6.06	62	4	SNP	0.000	T
SSPO	23145	genome.wustl.edu	37	7	149516520	149516520	+	RNA	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:149516520delC	ENST00000378016.2	+	0	11923							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCATACCGTCCCCCTGGGCC	0.711																																																	0													15.0	20.0	18.0					7																	149516520		1957	4123	6080			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149516520delC			Q76B61	RNA	DEL	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.711	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript			0.00	19	0	C			149516520	+1	tier1		no_errors	ENST00000378016	ensembl	human	known	74_37	rna	26.92	19	7	DEL	0.642	-
SSTR1	6751	genome.wustl.edu	37	14	38678935	38678935	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:38678935T>C	ENST00000267377.2	+	3	958	c.341T>C	c.(340-342)cTa>cCa	p.L114P		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	114					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GTGCCCTTCCTAGTCACCTCC	0.572																																																	0													205.0	185.0	192.0					14																	38678935		2203	4300	6503	SO:0001583	missense	0				CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.341T>C	14.37:g.38678935T>C	ENSP00000267377:p.Leu114Pro			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt	p.L114P	ENST00000267377.2	37	c.341	CCDS9666.1	14	.	.	.	.	.	.	.	.	.	.	T	21.5	4.160874	0.78226	.	.	ENSG00000139874	ENST00000267377	T	0.32272	1.46	4.8	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000289	T	0.59865	0.2225	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.68021	-0.5519	10	0.87932	D	0	.	13.6829	0.62496	0.0:0.0:0.0:1.0	.	114	P30872	SSR1_HUMAN	P	114	ENSP00000267377:L114P	ENSP00000267377:L114P	L	+	2	0	SSTR1	37748686	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.841000	0.86834	2.027000	0.59764	0.533000	0.62120	CTA	SSTR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt	ENSG00000139874		0.572	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR1	HGNC	protein_coding	OTTHUMT00000409930.2	-	0.00	81	0	T			38678935	+1	tier1	-	no_errors	ENST00000267377	ensembl	human	known	74_37	missense	65.62	11	21	SNP	1.000	C
ST14	6768	genome.wustl.edu	37	11	130079458	130079458	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:130079458C>T	ENST00000278742.5	+	18	2809	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	797	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCAGCGGCGGCGTGGACTCCT	0.701																																																	0													14.0	12.0	13.0					11																	130079458		2169	4255	6424	SO:0001819	synonymous_variant	0			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.2391C>T	11.37:g.130079458C>T			Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Silent	SNP	pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.G797	ENST00000278742.5	37	c.2391	CCDS8487.1	11																																																																																			ST14	-	pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000149418		0.701	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST14	HGNC	protein_coding	OTTHUMT00000386119.1	-	0.00	41	0	C			130079458	+1	tier1	-	no_errors	ENST00000278742	ensembl	human	known	74_37	silent	39.39	20	13	SNP	0.961	T
ST6GAL2	84620	genome.wustl.edu	37	2	107459563	107459563	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:107459563delG	ENST00000409382.3	-	2	1481	c.871delC	c.(871-873)cgcfs	p.R291fs	ST6GAL2_ENST00000361686.4_Frame_Shift_Del_p.R291fs|ST6GAL2_ENST00000409087.3_Frame_Shift_Del_p.R291fs|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	291					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.R291C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGCAGGCCGCGGGGGTGCAGC	0.716																																																	1	Substitution - Missense(1)	ovary(1)											7.0	8.0	8.0					2																	107459563		1687	3582	5269	SO:0001589	frameshift_variant	0			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.871delC	2.37:g.107459563delG	ENSP00000386942:p.Arg291fs		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Frame_Shift_Del	DEL	pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl	p.R291fs	ENST00000409382.3	37	c.871	CCDS2073.1	2																																																																																			ST6GAL2	-	pfam_Glyco_trans_29	ENSG00000144057		0.716	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	HGNC	protein_coding	OTTHUMT00000330065.1		0.00	30	0	G	NM_032528		107459563	-1	tier1		no_errors	ENST00000361686	ensembl	human	known	74_37	frame_shift_del	38.89	11	7	DEL	0.371	-
ST6GALNAC6	30815	genome.wustl.edu	37	9	130653132	130653132	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:130653132C>T	ENST00000373146.1	-	5	667	c.488G>A	c.(487-489)cGc>cAc	p.R163H	ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000373142.1_Missense_Mutation_p.R163H|ST6GALNAC6_ENST00000373144.3_Missense_Mutation_p.R129H|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000291839.5_Missense_Mutation_p.R163H|ST6GALNAC6_ENST00000373141.1_Missense_Mutation_p.R129H			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	163					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCTCAGCACGCGGAACACACT	0.602																																																	0													77.0	72.0	74.0					9																	130653132		2203	4300	6503	SO:0001583	missense	0			BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.488G>A	9.37:g.130653132C>T	ENSP00000362239:p.Arg163His		B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Missense_Mutation	SNP	pfam_Glyco_trans_29	p.R163H	ENST00000373146.1	37	c.488	CCDS6882.1	9	.	.	.	.	.	.	.	.	.	.	C	15.47	2.844595	0.51164	.	.	ENSG00000160408	ENST00000373146;ENST00000373141;ENST00000373142;ENST00000373144;ENST00000291839;ENST00000447681	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.61	4.72	0.59763	.	0.046728	0.85682	D	0.000000	T	0.37433	0.1003	M	0.78637	2.42	0.80722	D	1	B;B	0.28512	0.031;0.214	B;B	0.30316	0.037;0.114	T	0.24835	-1.0149	10	0.46703	T	0.11	-6.1471	13.1702	0.59593	0.0:0.9221:0.0:0.0779	.	129;163	Q969X2-2;Q969X2	.;SIA7F_HUMAN	H	163;129;163;129;163;129	ENSP00000362239:R163H;ENSP00000362234:R129H;ENSP00000362235:R163H;ENSP00000362237:R129H;ENSP00000291839:R163H;ENSP00000405326:R129H	ENSP00000291839:R163H	R	-	2	0	ST6GALNAC6	129692953	0.912000	0.30974	0.615000	0.29064	0.575000	0.36095	1.901000	0.39838	1.378000	0.46305	0.655000	0.94253	CGC	ST6GALNAC6	-	pfam_Glyco_trans_29	ENSG00000160408		0.602	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	ST6GALNAC6	HGNC	protein_coding	OTTHUMT00000054278.1	-	0.00	48	0	C	NM_013443		130653132	-1	tier1	-	no_errors	ENST00000291839	ensembl	human	known	74_37	missense	41.46	24	17	SNP	0.998	T
ST7	7982	genome.wustl.edu	37	7	116660605	116660605	+	5'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:116660605delT	ENST00000393443.1	+	0	334				ST7_ENST00000465133.1_5'UTR|ST7_ENST00000265437.5_Intron|ST7_ENST00000323984.3_Intron|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000393446.2_Intron|ST7_ENST00000393447.4_5'UTR|ST7_ENST00000422922.1_Intron|ST7_ENST00000393444.3_5'UTR|ST7_ENST00000393451.3_Intron|ST7_ENST00000393449.1_Intron|ST7_ENST00000432298.1_Intron			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7						endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		Cttttctttcttttttttttc	0.443																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393443.1:c.-281T>-	7.37:g.116660605delT			A8K137|B4DRQ2	RNA	DEL	-	NULL	ENST00000393443.1	37	NULL		7																																																																																			ST7	-	-	ENSG00000004866		0.443	ST7-004	KNOWN	basic	protein_coding	ST7	HGNC	protein_coding	OTTHUMT00000141624.2		0.00	25	0	T	NM_021908		116660605	+1	tier1		no_errors	ENST00000462544	ensembl	human	known	74_37	rna	46.43	15	13	DEL	0.000	-
STAB1	23166	genome.wustl.edu	37	3	52538076	52538076	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:52538076G>A	ENST00000321725.6	+	10	1131	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	352					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)		GTGGGGGATGGGCGTGCCTGC	0.701																																																	0													30.0	22.0	25.0					3																	52538076		2190	4291	6481	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.1055G>A	3.37:g.52538076G>A	ENSP00000312946:p.Gly352Glu		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G352E	ENST00000321725.6	37	c.1055	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451615	0.84209	.	.	ENSG00000010327	ENST00000321725	T	0.34275	1.37	4.7	4.7	0.59300	FAS1 domain (1);	0.068902	0.56097	D	0.000027	T	0.64983	0.2648	M	0.89095	3.005	0.50632	D	0.999883	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.72384	-0.4310	10	0.87932	D	0	.	13.5	0.61449	0.0:0.0:1.0:0.0	.	352;352	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	E	352	ENSP00000312946:G352E	ENSP00000312946:G352E	G	+	2	0	STAB1	52513116	1.000000	0.71417	0.997000	0.53966	0.905000	0.53344	4.249000	0.58766	2.326000	0.78906	0.462000	0.41574	GGG	STAB1	-	smart_EG-like_dom	ENSG00000010327		0.701	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	-	0.00	52	0	G	NM_015136		52538076	+1	tier1	-	no_errors	ENST00000321725	ensembl	human	known	74_37	missense	33.93	37	19	SNP	1.000	A
STAB1	23166	genome.wustl.edu	37	3	52551565	52551565	+	Splice_Site	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:52551565G>T	ENST00000321725.6	+	44	4639		c.e44-1			NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1						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)		ACTGGGGACAGGTCTCCTGCA	0.657																																																	0													38.0	41.0	40.0					3																	52551565		2201	4299	6500	SO:0001630	splice_region_variant	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.4564-1G>T	3.37:g.52551565G>T			A7E297|Q8IUH0|Q8IUH1|Q93072	Splice_Site	SNP	-	e44-1	ENST00000321725.6	37	c.4564-1	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948437	0.73787	.	.	ENSG00000010327	ENST00000321725	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.059	0.71936	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAB1	52526605	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	4.922000	0.63404	2.497000	0.84241	0.655000	0.94253	.	STAB1	-	-	ENSG00000010327		0.657	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	-	0.00	70	0	G	NM_015136	Intron	52551565	+1	tier1	-	no_errors	ENST00000321725	ensembl	human	known	74_37	splice_site	34.21	25	13	SNP	1.000	T
STAB2	55576	genome.wustl.edu	37	12	104015856	104015856	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:104015856G>T	ENST00000388887.2	+	5	658	c.454G>T	c.(454-456)Gac>Tac	p.D152Y		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AACCTGTGCTGACGACAACTT	0.473																																																	0													261.0	225.0	237.0					12																	104015856		2203	4300	6503	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.454G>T	12.37:g.104015856G>T	ENSP00000373539:p.Asp152Tyr			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.D152Y	ENST00000388887.2	37	c.454	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	7.800	0.713461	0.15306	.	.	ENSG00000136011	ENST00000388887	D	0.84516	-1.86	5.92	-0.455	0.12193	.	0.780131	0.11657	N	0.542276	D	0.85873	0.5798	M	0.90369	3.11	0.09310	N	0.999995	B	0.22746	0.074	B	0.23150	0.044	T	0.76399	-0.2973	10	0.72032	D	0.01	.	8.0065	0.30327	0.2483:0.1949:0.5567:0.0	.	152	Q8WWQ8	STAB2_HUMAN	Y	152	ENSP00000373539:D152Y	ENSP00000373539:D152Y	D	+	1	0	STAB2	102539986	0.473000	0.25878	0.057000	0.19452	0.360000	0.29518	0.499000	0.22546	-0.654000	0.05394	-2.054000	0.00404	GAC	STAB2	-	smart_EGF_laminin	ENSG00000136011		0.473	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	-	0.00	74	0	G			104015856	+1	tier1	-	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.556	T
STAB2	55576	genome.wustl.edu	37	12	104048365	104048366	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:104048365_104048366insA	ENST00000388887.2	+	13	1644_1645	c.1440_1441insA	c.(1441-1443)aaafs	p.K481fs	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCCATGGAGGCAAAAAGAAGGT	0.401																																																	0																																										SO:0001589	frameshift_variant	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1445dupA	12.37:g.104048370_104048370dupA	ENSP00000373539:p.Lys481fs			Frame_Shift_Ins	INS	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.K482fs	ENST00000388887.2	37	c.1440_1441	CCDS31888.1	12																																																																																			STAB2	-	pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain	ENSG00000136011		0.401	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1		0.00	58	0	-			104048366	+1	tier1		no_errors	ENST00000388887	ensembl	human	known	74_37	frame_shift_ins	43.48	26	20	INS	0.998:1.000	A
STAB2	55576	genome.wustl.edu	37	12	104099500	104099500	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:104099500G>T	ENST00000388887.2	+	37	4195	c.3991G>T	c.(3991-3993)Gtc>Ttc	p.V1331F		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTGAGAACCGTCATTGTGAG	0.408																																																	0													129.0	112.0	118.0					12																	104099500		2203	4300	6503	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3991G>T	12.37:g.104099500G>T	ENSP00000373539:p.Val1331Phe			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.V1331F	ENST00000388887.2	37	c.3991	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988710	0.35131	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.85258	-1.96	5.76	0.825	0.18824	.	0.467832	0.22268	N	0.062319	D	0.82683	0.5090	L	0.57130	1.785	0.21064	N	0.999793	P	0.46656	0.882	P	0.45660	0.489	T	0.74702	-0.3576	10	0.59425	D	0.04	.	9.8806	0.41231	0.5947:0.0:0.4053:0.0	.	1331	Q8WWQ8	STAB2_HUMAN	F	1331;18	ENSP00000373539:V1331F	ENSP00000258495:V18F	V	+	1	0	STAB2	102623630	0.001000	0.12720	0.066000	0.19879	0.285000	0.27093	-0.119000	0.10676	-0.107000	0.12088	-0.137000	0.14449	GTC	STAB2	-	NULL	ENSG00000136011		0.408	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	-	0.00	69	0	G			104099500	+1	tier1	-	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	6.02	78	5	SNP	0.105	T
STAB2	55576	genome.wustl.edu	37	12	104118858	104118858	+	Missense_Mutation	SNP	G	G	T	rs144900279	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:104118858G>T	ENST00000388887.2	+	45	4993	c.4789G>T	c.(4789-4791)Ggc>Tgc	p.G1597C		NM_017564.9	NP_060034.9			stabilin 2									p.G1597C(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TACCTGCCGCGGCAGCATTTA	0.448																																																	1	Substitution - Missense(1)	endometrium(1)											120.0	115.0	117.0					12																	104118858		2203	4300	6503	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4789G>T	12.37:g.104118858G>T	ENSP00000373539:p.Gly1597Cys			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G1597C	ENST00000388887.2	37	c.4789	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230520	0.58777	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.92099	-2.97	5.38	5.38	0.77491	FAS1 domain (3);	0.000000	0.85682	D	0.000000	D	0.96140	0.8742	M	0.80616	2.505	0.51482	D	0.99992	D	0.89917	1.0	D	0.97110	1.0	D	0.96013	0.9003	10	0.52906	T	0.07	.	17.8939	0.88880	0.0:0.0:1.0:0.0	.	1597	Q8WWQ8	STAB2_HUMAN	C	1597;284	ENSP00000373539:G1597C	ENSP00000258495:G284C	G	+	1	0	STAB2	102642988	1.000000	0.71417	0.967000	0.41034	0.318000	0.28184	6.322000	0.72886	2.515000	0.84797	0.561000	0.74099	GGC	STAB2	-	superfamily_FAS1_domain,pfscan_FAS1_domain	ENSG00000136011		0.448	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	-	0.00	61	0	G			104118858	+1	tier1	-	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	6.25	59	4	SNP	0.999	T
STAC2	342667	genome.wustl.edu	37	17	37381682	37381682	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:37381682G>A	ENST00000333461.5	-	1	443	c.74C>T	c.(73-75)gCc>gTc	p.A25V		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	25					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TTCCTGGAGGGCGGAGACGGT	0.716																																																	0													52.0	45.0	48.0					17																	37381682		2203	4300	6503	SO:0001583	missense	0			AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.74C>T	17.37:g.37381682G>A	ENSP00000327509:p.Ala25Val		Q32MA3	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox	p.A25V	ENST00000333461.5	37	c.74	CCDS11335.1	17	.	.	.	.	.	.	.	.	.	.	g	15.65	2.897699	0.52121	.	.	ENSG00000141750	ENST00000333461	T	0.79940	-1.32	5.42	2.21	0.28008	.	1.078000	0.07173	N	0.852753	T	0.62307	0.2417	N	0.08118	0	0.21782	N	0.999545	B	0.02656	0.0	B	0.01281	0.0	T	0.52313	-0.8592	10	0.49607	T	0.09	-25.8179	5.0874	0.14691	0.1771:0.0:0.6583:0.1645	.	25	Q6ZMT1	STAC2_HUMAN	V	25	ENSP00000327509:A25V	ENSP00000327509:A25V	A	-	2	0	STAC2	34635208	0.258000	0.24033	0.988000	0.46212	0.988000	0.76386	0.143000	0.16115	0.666000	0.31087	0.455000	0.32223	GCC	STAC2	-	NULL	ENSG00000141750		0.716	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC2	HGNC	protein_coding	OTTHUMT00000444533.2	-	0.00	74	0	G	NM_198993		37381682	-1	tier1	-	no_errors	ENST00000333461	ensembl	human	known	74_37	missense	43.48	26	20	SNP	0.959	A
STAG3L3	442578	genome.wustl.edu	37	7	72470041	72470042	+	RNA	DEL	CT	CT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:72470041_72470042delCT	ENST00000428423.1	-	0	559_560							P0CL85	ST3L3_HUMAN	stromal antigen 3-like 3							nucleus (GO:0005634)				breast(1)|lung(1)|stomach(1)	3		Lung NSC(55;0.197)				CCACACTGTACTCTCTGTCCAT	0.475																																																	0																																												0					7q11.23	2014-02-20			ENSG00000174353	ENSG00000174353			33845	other	unknown							Standard	NR_040582		Approved		uc022afp.1	P0CL85	OTTHUMG00000157064		7.37:g.72470045_72470046delCT			A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	-	NULL	ENST00000428423.1	37	NULL		7																																																																																			STAG3L3	-	-	ENSG00000174353		0.475	STAG3L3-004	KNOWN	basic	processed_transcript	STAG3L3	HGNC	pseudogene	OTTHUMT00000347342.1		0.00	401	0	CT	NM_001013739		72470042	-1	tier1		no_errors	ENST00000423834	ensembl	human	known	74_37	rna	16.10	323	62	DEL	1.000:1.000	-
PMS2P4	5382	genome.wustl.edu	37	7	66767611	66767613	+	RNA	DEL	TTT	TTT	-	rs12531701	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:66767611_66767613delTTT	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		ACCGGACTGCTTTTTTTTTTTTT	0.547																																																	0																																												0			D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767620_66767622delTTT				RNA	DEL	-	NULL	ENST00000414507.1	37	NULL		7																																																																																			STAG3L4	-	-	ENSG00000106610		0.547	PMS2P4-002	KNOWN	basic	processed_transcript	STAG3L4	HGNC	pseudogene	OTTHUMT00000346632.1		0.00	79	0	TTT	NR_022007		66767613	+1	tier1		no_errors	ENST00000416602	ensembl	human	known	74_37	rna	19.30	46	11	DEL	0.034:0.032:0.030	-
PMS2P4	5382	genome.wustl.edu	37	7	66767623	66767624	+	RNA	DEL	TC	TC	-	rs200770839|rs71897997|rs533615862|rs59344765	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:66767623_66767624delTC	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		TTTTTTTTTTTCCCGAACGACC	0.569																																																	0																																												0			D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767623_66767624delTC				RNA	DEL	-	NULL	ENST00000414507.1	37	NULL		7																																																																																			STAG3L4	-	-	ENSG00000106610		0.569	PMS2P4-002	KNOWN	basic	processed_transcript	STAG3L4	HGNC	pseudogene	OTTHUMT00000346632.1		0.00	74	0	TC	NR_022007		66767624	+1	tier1		no_errors	ENST00000416602	ensembl	human	known	74_37	rna	27.12	43	16	DEL	0.016:0.014	-
PILRB	29990	genome.wustl.edu	37	7	99943553	99943554	+	5'UTR	DEL	TT	TT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:99943553_99943554delTT	ENST00000610247.1	+	0	493_494				STAG3L5P_ENST00000493499.1_RNA|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGTGAAGGGATTTTTTTTTTTC	0.411																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000610247.1:c.-2003TT>-	7.37:g.99943561_99943562delTT			Q69YF9|Q9HBS0	RNA	DEL	-	NULL	ENST00000610247.1	37	NULL	CCDS43622.1	7																																																																																			STAG3L5P-PVRIG2P-PILRB	-	-	ENSG00000272752		0.411	PILRB-202	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG3L5P-PVRIG2P-PILRB	HGNC	protein_coding			0.00	18	0	TT	NM_178238		99943554	+1	tier1		no_errors	ENST00000310771	ensembl	human	known	74_37	rna	46.43	15	13	DEL	0.002:0.003	-
STAMBPL1	57559	genome.wustl.edu	37	10	90676487	90676487	+	Silent	SNP	G	G	T	rs183704316		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:90676487G>T	ENST00000371926.3	+	8	1912	c.954G>T	c.(952-954)gcG>gcT	p.A318A	STAMBPL1_ENST00000371927.3_Silent_p.A318A|STAMBPL1_ENST00000371922.1_Silent_p.A152A|STAMBPL1_ENST00000371924.1_Silent_p.A318A	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	318	MPN.					membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AGCAGTCTGCGGGACCAGACT	0.373																																																	0													168.0	155.0	159.0					10																	90676487		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"""associated molecule with the SH3 domain of STAM (AMSH) like protein"", ""associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"""	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.954G>T	10.37:g.90676487G>T			B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Silent	SNP	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	p.A318	ENST00000371926.3	37	c.954	CCDS7391.1	10																																																																																			STAMBPL1	-	pfam_JAB_MPN_dom,smart_JAB_MPN_dom	ENSG00000138134		0.373	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAMBPL1	HGNC	protein_coding	OTTHUMT00000049283.1	-	0.00	51	0	G	NM_020799		90676487	+1	tier1	-	no_errors	ENST00000371927	ensembl	human	known	74_37	silent	7.14	52	4	SNP	0.002	T
STAP2	55620	genome.wustl.edu	37	19	4325468	4325468	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4325468G>T	ENST00000594605.1	-	10	1027	c.904C>A	c.(904-906)Cca>Aca	p.P302T	STAP2_ENST00000600324.1_Missense_Mutation_p.P302T|STAP2_ENST00000597593.1_5'UTR	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	302	Pro-rich.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCGGTAGTGGGGGCAGTGGG	0.602																																																	0													97.0	102.0	100.0					19																	4325468		2203	4300	6503	SO:0001583	missense	0			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.904C>A	19.37:g.4325468G>T	ENSP00000471052:p.Pro302Thr		A6NKK3|Q9NXI2	Missense_Mutation	SNP	pfscan_SH2	p.P302T	ENST00000594605.1	37	c.904	CCDS45926.1	19	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056990	0.36277	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	3.85	1.5	0.22942	.	0.343849	0.22906	N	0.054192	T	0.29423	0.0733	L	0.50333	1.59	0.09310	N	1	P;P	0.40476	0.718;0.557	B;B	0.39419	0.215;0.299	T	0.15896	-1.0421	9	0.87932	D	0	-14.5032	6.3086	0.21153	0.0:0.2062:0.5812:0.2126	.	302;302	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	T	302	.	ENSP00000317912:P302T	P	-	1	0	STAP2	4276468	0.017000	0.18338	0.020000	0.16555	0.480000	0.33159	0.598000	0.24074	0.085000	0.17107	-0.529000	0.04317	CCA	STAP2	-	NULL	ENSG00000178078		0.602	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAP2	HGNC	protein_coding	OTTHUMT00000458114.2		0.00	52	0	G	NM_001013841		4325468	-1			no_errors	ENST00000600324	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.011	T
STARD9	57519	genome.wustl.edu	37	15	42974345	42974345	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:42974345G>A	ENST00000290607.7	+	22	2166	c.2109G>A	c.(2107-2109)ttG>ttA	p.L703L		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	703	Gln-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						TGGCCAGCTTGCAACAGCAGC	0.527																																																	0													66.0	70.0	69.0					15																	42974345		692	1590	2282	SO:0001819	synonymous_variant	0			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.2109G>A	15.37:g.42974345G>A			Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Silent	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L703	ENST00000290607.7	37	c.2109	CCDS53935.1	15																																																																																			STARD9	-	NULL	ENSG00000159433		0.527	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	-	0.00	77	0	G			42974345	+1	tier1	-	no_errors	ENST00000290607	ensembl	human	known	74_37	silent	39.53	26	17	SNP	0.187	A
STAT5A	6776	genome.wustl.edu	37	17	40459723	40459723	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:40459723G>A	ENST00000345506.4	+	16	2530	c.1888G>A	c.(1888-1890)Gcc>Acc	p.A630T	STAT5A_ENST00000590949.1_Missense_Mutation_p.A630T|STAT5A_ENST00000452307.2_Missense_Mutation_p.A627T|STAT5A_ENST00000588868.1_Missense_Mutation_p.A599T|STAT5A_ENST00000546010.2_Missense_Mutation_p.A600T|STAT5A_ENST00000587646.1_Missense_Mutation_p.A118T	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	630	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CATCACCATCGCCTGGAAGTT	0.592																																																	0													65.0	57.0	60.0					17																	40459723		2203	4300	6503	SO:0001583	missense	0			U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1888G>A	17.37:g.40459723G>A	ENSP00000341208:p.Ala630Thr		Q1KLZ6	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.A630T	ENST00000345506.4	37	c.1888	CCDS11424.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.118805	0.94385	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	D;D;D	0.96774	-4.12;-4.12;-4.12	4.94	4.94	0.65067	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.96812	0.8959	L	0.38531	1.155	0.80722	D	1	D;D;D;D;D	0.89917	0.993;1.0;1.0;0.996;0.997	P;D;D;D;D	0.85130	0.856;0.995;0.997;0.957;0.917	D	0.96341	0.9251	10	0.35671	T	0.21	-31.7291	18.5174	0.90939	0.0:0.0:1.0:0.0	.	630;627;600;601;630	A8K6I5;Q8WWS9;Q1KLZ6;Q59GY7;P42229	.;.;.;.;STA5A_HUMAN	T	630;600;601;627	ENSP00000341208:A630T;ENSP00000443107:A600T;ENSP00000400320:A627T	ENSP00000341208:A630T	A	+	1	0	STAT5A	37713249	1.000000	0.71417	0.994000	0.49952	0.895000	0.52256	9.699000	0.98703	2.456000	0.83038	0.491000	0.48974	GCC	STAT5A	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000126561		0.592	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5A	HGNC	protein_coding	OTTHUMT00000319804.1	-	0.00	31	0	G	NM_003152		40459723	+1	tier1	-	no_errors	ENST00000345506	ensembl	human	known	74_37	missense	37.50	15	9	SNP	1.000	A
STIL	6491	genome.wustl.edu	37	1	47746485	47746485	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:47746485C>T	ENST00000360380.3	-	13	2008	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	STIL_ENST00000243182.6_Missense_Mutation_p.E549K|STIL_ENST00000371877.3_Missense_Mutation_p.E549K|STIL_ENST00000396221.2_Missense_Mutation_p.E549K|STIL_ENST00000337817.5_Missense_Mutation_p.E549K	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	549					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E549K(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GGATACTCTTCGTTTTGTACA	0.423																																																	1	Substitution - Missense(1)	large_intestine(1)											125.0	136.0	132.0					1																	47746485		2203	4300	6503	SO:0001583	missense	0			M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1645G>A	1.37:g.47746485C>T	ENSP00000353544:p.Glu549Lys		Q5T0C5|Q68CN9	Missense_Mutation	SNP	NULL	p.E549K	ENST00000360380.3	37	c.1645	CCDS548.1	1	.	.	.	.	.	.	.	.	.	.	C	7.347	0.621994	0.14193	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.48201	2.17;2.17;2.17;2.16;2.17;0.82	5.1	3.21	0.36854	.	0.485105	0.22993	N	0.053171	T	0.31575	0.0801	L	0.29908	0.895	0.33186	D	0.5502	B;B;B;B;B	0.13145	0.002;0.007;0.002;0.007;0.007	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.002;0.002	T	0.33828	-0.9853	10	0.13108	T	0.6	-11.92	10.5952	0.45333	0.0:0.7947:0.1329:0.0724	.	549;502;549;549;549	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	K	549;549;549;549;549;502	ENSP00000353544:E549K;ENSP00000337367:E549K;ENSP00000360944:E549K;ENSP00000379523:E549K;ENSP00000243182:E549K;ENSP00000411664:E502K	ENSP00000243182:E549K	E	-	1	0	STIL	47519072	1.000000	0.71417	0.826000	0.32828	0.098000	0.18820	2.775000	0.47702	0.538000	0.28769	-0.137000	0.14449	GAA	STIL	-	NULL	ENSG00000123473		0.423	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STIL	HGNC	protein_coding	OTTHUMT00000021649.2	-	0.00	70	0	C	NM_003035		47746485	-1	tier1	-	no_errors	ENST00000371877	ensembl	human	known	74_37	missense	38.03	44	27	SNP	0.925	T
STK32C	282974	genome.wustl.edu	37	10	134036380	134036380	+	Silent	SNP	C	C	T	rs371918693		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:134036380C>T	ENST00000368622.1	-	9	1134	c.753G>A	c.(751-753)ccG>ccA	p.P251P	STK32C_ENST00000368625.4_Silent_p.P381P					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCACGAAGCCCGGCTCCACCC	0.716																																																	0										3,4371		0,3,2184	22.0	24.0	23.0		1104	-7.8	0.6	10		23	0,8576		0,0,4288	no	coding-synonymous	STK32C	NM_173575.2		0,3,6472	TT,TC,CC		0.0,0.0686,0.0232		368/487	134036380	3,12947	2187	4288	6475	SO:0001819	synonymous_variant	0			AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.753G>A	10.37:g.134036380C>T				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P381	ENST00000368622.1	37	c.1143		10																																																																																			STK32C	-	superfamily_Kinase-like_dom	ENSG00000165752		0.716	STK32C-001	KNOWN	basic	protein_coding	STK32C	HGNC	protein_coding	OTTHUMT00000051068.2	-	0.00	37	0	C	NM_173575		134036380	-1	tier1	-	no_errors	ENST00000368625	ensembl	human	known	74_37	silent	58.33	10	14	SNP	0.005	T
STRADA	92335	genome.wustl.edu	37	17	61781804	61781804	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:61781804G>C	ENST00000336174.6	-	11	1109	c.997C>G	c.(997-999)Cgg>Ggg	p.R333G	STRADA_ENST00000579340.1_3'UTR|STRADA_ENST00000447001.3_Missense_Mutation_p.R289G|STRADA_ENST00000582137.1_Missense_Mutation_p.R304G|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000392950.4_Missense_Mutation_p.R296G|STRADA_ENST00000375840.4_Missense_Mutation_p.R275G|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000580039.1_5'UTR	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	333	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTGGAGGGCCGGGGGGTGCTG	0.647																																																	0													30.0	31.0	31.0					17																	61781804		2202	4300	6502	SO:0001583	missense	0			AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.997C>G	17.37:g.61781804G>C	ENSP00000336655:p.Arg333Gly		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R333G	ENST00000336174.6	37	c.997	CCDS32703.1	17	.	.	.	.	.	.	.	.	.	.	G	8.664	0.901217	0.17760	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000447001;ENST00000392950;ENST00000245865	T;T;T;T	0.57752	0.45;0.47;0.38;0.38	4.91	1.94	0.25998	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051495	0.85682	D	0.000000	T	0.48642	0.1511	L	0.51853	1.615	0.80722	D	1	B;B;B;B;B;B	0.15473	0.008;0.003;0.013;0.005;0.011;0.008	B;B;B;B;B;B	0.20384	0.012;0.005;0.019;0.011;0.011;0.029	T	0.53330	-0.8454	10	0.87932	D	0	.	15.613	0.76740	0.0:0.0:0.6172:0.3828	.	304;289;275;296;296;333	B4DW17;B4DDE3;Q5JPI2;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;STRAA_HUMAN	G	333;275;289;296;295	ENSP00000336655:R333G;ENSP00000365000:R275G;ENSP00000398841:R289G;ENSP00000376677:R296G	ENSP00000245865:R295G	R	-	1	2	STRADA	59135536	0.977000	0.34250	0.998000	0.56505	0.775000	0.43874	0.702000	0.25631	0.489000	0.27749	0.491000	0.48974	CGG	STRADA	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000266173		0.647	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADA	HGNC	protein_coding	OTTHUMT00000443894.1		0.00	56	0	G			61781804	-1			no_errors	ENST00000336174	ensembl	human	known	74_37	missense	6.67	32	3	SNP	0.626	C
STRADA	92335	genome.wustl.edu	37	17	61781804	61781804	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:61781804delG	ENST00000336174.6	-	11	1109	c.997delC	c.(997-999)cggfs	p.R333fs	STRADA_ENST00000579340.1_3'UTR|STRADA_ENST00000447001.3_Frame_Shift_Del_p.R289fs|STRADA_ENST00000582137.1_Frame_Shift_Del_p.R304fs|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000392950.4_Frame_Shift_Del_p.R296fs|STRADA_ENST00000375840.4_Frame_Shift_Del_p.R275fs|STRADA_ENST00000245865.5_3'UTR|STRADA_ENST00000580039.1_5'UTR	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	333	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTGGAGGGCCGGGGGGTGCTG	0.647																																																	0													30.0	31.0	31.0					17																	61781804		2202	4300	6502	SO:0001589	frameshift_variant	0			AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.997delC	17.37:g.61781804delG	ENSP00000336655:p.Arg333fs		B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R333fs	ENST00000336174.6	37	c.997	CCDS32703.1	17																																																																																			STRADA	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000266173		0.647	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADA	HGNC	protein_coding	OTTHUMT00000443894.1		0.00	56	0	G			61781804	-1	tier1		no_errors	ENST00000336174	ensembl	human	known	74_37	frame_shift_del	22.22	35	10	DEL	0.626	-
STT3B	201595	genome.wustl.edu	37	3	31677497	31677497	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:31677497T>C	ENST00000295770.2	+	16	2631	c.2422T>C	c.(2422-2424)Tac>Cac	p.Y808H		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	808					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						GAAGCGTGGCTACATTAAAAA	0.318																																																	0													91.0	96.0	94.0					3																	31677497		2203	4300	6503	SO:0001583	missense	0			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.2422T>C	3.37:g.31677497T>C	ENSP00000295770:p.Tyr808His		Q96JZ4|Q96KY7	Missense_Mutation	SNP	pfam_Oligo_trans_STT3	p.Y808H	ENST00000295770.2	37	c.2422	CCDS2650.1	3	.	.	.	.	.	.	.	.	.	.	T	10.57	1.386786	0.25031	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.03	5.03	0.67393	.	0.126144	0.56097	D	0.000034	T	0.27524	0.0676	N	0.02011	-0.69	0.58432	D	0.999993	B	0.06786	0.001	B	0.06405	0.002	T	0.10823	-1.0613	9	0.24483	T	0.36	-10.5815	15.4746	0.75468	0.0:0.0:0.0:1.0	.	808	Q8TCJ2	STT3B_HUMAN	H	808	.	ENSP00000295770:Y808H	Y	+	1	0	STT3B	31652501	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.094000	0.57721	2.198000	0.70561	0.528000	0.53228	TAC	STT3B	-	NULL	ENSG00000163527		0.318	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STT3B	HGNC	protein_coding	OTTHUMT00000253166.2	-	0.00	52	0	T	NM_178862		31677497	+1	tier1	-	no_errors	ENST00000295770	ensembl	human	known	74_37	missense	38.00	31	19	SNP	1.000	C
STT3B	201595	genome.wustl.edu	37	3	31677794	31677794	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:31677794delT	ENST00000295770.2	+	0	2928					NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)						co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TAGCAGCAGATTTTTTTTTTA	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.*238T>-	3.37:g.31677794delT			Q96JZ4|Q96KY7	RNA	DEL	-	NULL	ENST00000295770.2	37	NULL	CCDS2650.1	3																																																																																			STT3B	-	-	ENSG00000163527		0.363	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STT3B	HGNC	protein_coding	OTTHUMT00000253166.2		0.00	11	0	T	NM_178862		31677794	+1	tier1		no_errors	ENST00000463044	ensembl	human	known	74_37	rna	100.00	0	4	DEL	1.000	-
STX2	2054	genome.wustl.edu	37	12	131283099	131283100	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:131283099_131283100insT	ENST00000392373.2	-	9	850_851	c.756_757insA	c.(754-759)aaagctfs	p.A253fs	STX2_ENST00000261653.6_Frame_Shift_Ins_p.A253fs	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	253	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TATTTGATAGCTTTTTTTGTTT	0.337																																																	0																																										SO:0001589	frameshift_variant	0			D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"""epimorphin"""	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.757dupA	12.37:g.131283106_131283106dupT	ENSP00000376178:p.Ala253fs		Q86VW8	Frame_Shift_Ins	INS	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.A252fs	ENST00000392373.2	37	c.757_756	CCDS9270.1	12																																																																																			STX2	-	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom	ENSG00000111450		0.337	STX2-002	KNOWN	basic|CCDS	protein_coding	STX2	HGNC	protein_coding	OTTHUMT00000399455.2		0.00	71	0	-	NM_194356		131283100	-1	tier1		no_errors	ENST00000392373	ensembl	human	known	74_37	frame_shift_ins	28.00	54	21	INS	1.000:0.955	T
STXBP1	6812	genome.wustl.edu	37	9	130444703	130444703	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:130444703G>A	ENST00000373299.1	+	18	1681	c.1566G>A	c.(1564-1566)tgG>tgA	p.W522*	STXBP1_ENST00000373302.3_Nonsense_Mutation_p.W522*|STXBP1_ENST00000481942.1_Intron	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	522					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						ATGGGCACTGGCATAAGAACA	0.552																																																	0													49.0	52.0	51.0					9																	130444703		2203	4300	6503	SO:0001587	stop_gained	0			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1566G>A	9.37:g.130444703G>A	ENSP00000362396:p.Trp522*		B1AM97|Q28208|Q62759|Q64320|Q96TG8	Nonsense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.W522*	ENST00000373299.1	37	c.1566	CCDS35146.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.749644	0.98468	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.4141	17.1696	0.86826	0.0:0.0:1.0:0.0	.	.	.	.	X	476;522;354;522	.	ENSP00000362396:W522X	W	+	3	0	STXBP1	129484524	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.731000	0.98807	2.644000	0.89710	0.561000	0.74099	TGG	STXBP1	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000136854		0.552	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	HGNC	protein_coding	OTTHUMT00000054229.1	-	0.00	31	0	G	NM_003165		130444703	+1	tier1	-	no_errors	ENST00000373299	ensembl	human	known	74_37	nonsense	48.39	16	15	SNP	1.000	A
STXBP3	6814	genome.wustl.edu	37	1	109315355	109315355	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:109315355delA	ENST00000370008.3	+	7	557	c.507delA	c.(505-507)ggafs	p.G169fs	STXBP3_ENST00000485167.1_3'UTR	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	169	Mediates interaction with DOC2B. {ECO:0000250}.				blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		ATGCAAAGGGAAAAGATGCCA	0.393																																																	0													126.0	116.0	119.0					1																	109315355		2203	4300	6503	SO:0001589	frameshift_variant	0			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.507delA	1.37:g.109315355delA	ENSP00000359025:p.Gly169fs		A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Frame_Shift_Del	DEL	pfam_Sec1-like,superfamily_Sec1-like	p.D171fs	ENST00000370008.3	37	c.507	CCDS790.1	1																																																																																			STXBP3	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000116266		0.393	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP3	HGNC	protein_coding	OTTHUMT00000030591.1		0.00	31	0	A	NM_007269		109315355	+1	tier1		no_errors	ENST00000370008	ensembl	human	known	74_37	frame_shift_del	40.62	19	13	DEL	0.327	-
SUCO	51430	genome.wustl.edu	37	1	172554204	172554204	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:172554204delA	ENST00000263688.3	+	16	1764	c.1545delA	c.(1543-1545)gcafs	p.A515fs	SUCO_ENST00000610051.1_Frame_Shift_Del_p.A478fs|SUCO_ENST00000608151.1_Frame_Shift_Del_p.A667fs|SUCO_ENST00000367723.4_Frame_Shift_Del_p.A666fs	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	515					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TTCTGGGAGCAAAAACTGAAG	0.313																																																	0													75.0	78.0	77.0					1																	172554204		2203	4295	6498	SO:0001589	frameshift_variant	0			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1545delA	1.37:g.172554204delA	ENSP00000263688:p.Ala515fs		B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Frame_Shift_Del	DEL	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.T669fs	ENST00000263688.3	37	c.2001	CCDS1303.1	1																																																																																			SUCO	-	NULL	ENSG00000094975		0.313	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCO	HGNC	protein_coding	OTTHUMT00000084273.1		0.00	42	0	A	NM_016227		172554204	+1	tier1		no_errors	ENST00000608151	ensembl	human	known	74_37	frame_shift_del	24.44	68	22	DEL	1.000	-
SUN2	25777	genome.wustl.edu	37	22	39138454	39138454	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:39138454C>T	ENST00000405510.1	-	10	1278	c.920G>A	c.(919-921)cGt>cAt	p.R307H	RP3-508I15.21_ENST00000609212.1_RNA|SUN2_ENST00000405018.1_Missense_Mutation_p.R328H|RP3-508I15.22_ENST00000607991.1_RNA|SUN2_ENST00000216064.4_Missense_Mutation_p.R307H|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000411587.2_Missense_Mutation_p.R296H|SUN2_ENST00000406622.1_Missense_Mutation_p.R307H	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	307					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CAGCTCCAGACGTTCCAGCCG	0.642																																																	0													30.0	31.0	30.0					22																	39138454		2203	4300	6503	SO:0001583	missense	0			AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.920G>A	22.37:g.39138454C>T	ENSP00000385740:p.Arg307His		B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.R307H	ENST00000405510.1	37	c.920	CCDS13978.1	22	.	.	.	.	.	.	.	.	.	.	C	9.146	1.015014	0.19355	.	.	ENSG00000100242	ENST00000405510;ENST00000216064;ENST00000405018;ENST00000406622;ENST00000411587	T;T;T;T;T	0.12569	2.68;2.68;2.67;2.68;2.68	5.24	4.21	0.49690	.	0.274658	0.30639	N	0.009194	T	0.04724	0.0128	N	0.14661	0.345	0.09310	N	1	B;B;P;P;P	0.41366	0.086;0.449;0.665;0.747;0.665	B;B;B;B;B	0.27608	0.013;0.04;0.044;0.081;0.044	T	0.34551	-0.9824	10	0.14252	T	0.57	-22.6305	6.2359	0.20762	0.1498:0.6956:0.0:0.1546	.	296;342;307;328;307	B4DIU6;B4E2A6;Q2T9F7;B0QY62;Q9UH99	.;.;.;.;SUN2_HUMAN	H	307;307;328;307;296	ENSP00000385740:R307H;ENSP00000216064:R307H;ENSP00000385616:R328H;ENSP00000383992:R307H;ENSP00000395601:R296H	ENSP00000216064:R307H	R	-	2	0	SUN2	37468400	0.009000	0.17119	0.290000	0.24890	0.167000	0.22549	0.888000	0.28268	2.451000	0.82905	0.555000	0.69702	CGT	SUN2	-	NULL	ENSG00000100242		0.642	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN2	HGNC	protein_coding	OTTHUMT00000321057.1	-	0.00	43	0	C	XM_039332		39138454	-1	tier1	-	no_errors	ENST00000216064	ensembl	human	known	74_37	missense	43.59	22	17	SNP	0.077	T
SUSD1	64420	genome.wustl.edu	37	9	114860860	114860860	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:114860860G>T	ENST00000374270.3	-	10	1536	c.1364C>A	c.(1363-1365)cCt>cAt	p.P455H	SUSD1_ENST00000374264.2_Missense_Mutation_p.P455H|SUSD1_ENST00000374263.3_Missense_Mutation_p.P455H	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	455						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ACACACTACAGGCACTTGTTC	0.443																																																	0													175.0	152.0	159.0					9																	114860860		2203	4300	6503	SO:0001583	missense	0			AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1364C>A	9.37:g.114860860G>T	ENSP00000363388:p.Pro455His		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP	p.P455H	ENST00000374270.3	37	c.1364	CCDS6783.1	9	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969581	0.34754	.	.	ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264	T;T;T	0.30981	1.51;1.51;1.51	5.14	4.24	0.50183	.	0.519208	0.16198	N	0.225047	T	0.50888	0.1642	M	0.77486	2.375	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.994	P;P;P	0.61592	0.874;0.891;0.751	T	0.43637	-0.9379	10	0.87932	D	0	-0.3445	9.5778	0.39468	0.0964:0.0:0.9036:0.0	.	455;455;455	F8WAQ1;Q6UWL2-2;Q6UWL2	.;.;SUSD1_HUMAN	H	455	ENSP00000363388:P455H;ENSP00000363381:P455H;ENSP00000363382:P455H	ENSP00000363381:P455H	P	-	2	0	SUSD1	113900681	0.010000	0.17322	0.001000	0.08648	0.003000	0.03518	1.780000	0.38634	1.179000	0.42884	0.655000	0.94253	CCT	SUSD1	-	NULL	ENSG00000106868		0.443	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD1	HGNC	protein_coding	OTTHUMT00000053668.3	-	0.00	76	0	G	NM_022486		114860860	-1	tier1	-	no_errors	ENST00000374264	ensembl	human	known	74_37	missense	38.36	45	28	SNP	0.003	T
SURF6	6838	genome.wustl.edu	37	9	136198675	136198675	+	3'UTR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:136198675C>T	ENST00000372022.4	-	0	1381				SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6						ribosome biogenesis (GO:0042254)	granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TCTCCTAGGACGGAAGACGGC	0.662																																																	0													13.0	15.0	14.0					9																	136198675		2108	4092	6200	SO:0001624	3_prime_UTR_variant	0			AF186772	CCDS6962.1	9q33-q34	2010-07-06			ENSG00000148296	ENSG00000148296			11478	protein-coding gene	gene with protein product	"""surfeit locus protein 6"""	185642				9740673, 15629442	Standard	NM_006753		Approved	FLJ30322, RRP14	uc004cdb.4	O75683	OTTHUMG00000020871	ENST00000372022.4:c.*30G>A	9.37:g.136198675C>T			Q5T8U1|Q9BRK9|Q9BTZ5|Q9UK24	RNA	SNP	-	NULL	ENST00000372022.4	37	NULL	CCDS6962.1	9																																																																																			SURF6	-	-	ENSG00000148296		0.662	SURF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF6	HGNC	protein_coding	OTTHUMT00000054905.1	-	0.00	23	0	C	NM_006753		136198675	-1	tier1	-	no_errors	ENST00000468290	ensembl	human	known	74_37	rna	26.92	19	7	SNP	0.000	T
SUSD2	56241	genome.wustl.edu	37	22	24584236	24584236	+	Silent	SNP	C	C	T	rs146576308	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:24584236C>T	ENST00000358321.3	+	14	2646	c.2385C>T	c.(2383-2385)ctC>ctT	p.L795L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	795					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TTGGGGGCCTCGCGGTGGTGG	0.677																																																	0								C		0,4406		0,0,2203	61.0	62.0	62.0		2385	0.1	0.9	22	dbSNP_134	62	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	SUSD2	NM_019601.3		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		795/823	24584236	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.2385C>T	22.37:g.24584236C>T			Q9H5Y6	Silent	SNP	pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP	p.L795	ENST00000358321.3	37	c.2385	CCDS13824.1	22																																																																																			SUSD2	-	NULL	ENSG00000099994		0.677	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD2	HGNC	protein_coding	OTTHUMT00000320088.1	-	0.00	60	0	C	NM_019601		24584236	+1	tier1	rs146576308	no_errors	ENST00000358321	ensembl	human	known	74_37	silent	40.91	25	18	SNP	0.515	T
SUSD3	203328	genome.wustl.edu	37	9	95838089	95838089	+	Frame_Shift_Del	DEL	C	C	-	rs201778335		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:95838089delC	ENST00000375472.3	+	2	148	c.112delC	c.(112-114)cccfs	p.P39fs	SUSD3_ENST00000375469.1_Frame_Shift_Del_p.P26fs	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	39	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.P38T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						GCTGCGGCTACCCCCGCAAGC	0.682																																																	1	Substitution - Missense(1)	large_intestine(1)											66.0	52.0	57.0					9																	95838089		2203	4300	6503	SO:0001589	frameshift_variant	0			AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.112delC	9.37:g.95838089delC	ENSP00000364621:p.Pro39fs		Q49AA6|Q6UXV7	Frame_Shift_Del	DEL	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.P39fs	ENST00000375472.3	37	c.112	CCDS6701.1	9																																																																																			SUSD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000157303		0.682	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD3	HGNC	protein_coding	OTTHUMT00000053120.1		0.00	47	0	C	NM_145006		95838089	+1	tier1		no_errors	ENST00000375472	ensembl	human	known	74_37	frame_shift_del	28.57	30	12	DEL	0.494	-
SUSD4	55061	genome.wustl.edu	37	1	223408392	223408392	+	Intron	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:223408392A>T	ENST00000343846.3	-	5	1358				SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000494793.2_Intron|SUSD4_ENST00000344029.6_Missense_Mutation_p.L259M|SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000478605.1_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4							integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GCAGCTGCCAACCTGATGTGT	0.423																																																	0													114.0	105.0	108.0					1																	223408392		2203	4300	6503	SO:0001627	intron_variant	0			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.725-5662T>A	1.37:g.223408392A>T			D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L259M	ENST00000343846.3	37	c.775	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	A	7.902	0.734630	0.15574	.	.	ENSG00000143502	ENST00000344029	T	0.34667	1.35	2.34	-4.68	0.03309	.	.	.	.	.	T	0.16300	0.0392	.	.	.	0.09310	N	1	B	0.22851	0.076	B	0.11329	0.006	T	0.18272	-1.0342	8	0.31617	T	0.26	.	0.7474	0.00984	0.2782:0.18:0.3627:0.1791	.	259	Q5VX71-3	.	M	259	ENSP00000339926:L259M	ENSP00000339926:L259M	L	-	1	2	SUSD4	221475015	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.467000	0.06664	-1.155000	0.02822	-0.479000	0.04858	TTG	SUSD4	-	NULL	ENSG00000143502		0.423	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	-	0.00	18	0	A	NM_017982		223408392	-1	tier1	-	no_errors	ENST00000344029	ensembl	human	known	74_37	missense	28.12	23	9	SNP	0.000	T
SUV39H1	6839	genome.wustl.edu	37	X	48564745	48564745	+	Silent	SNP	C	C	T	rs141546891		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:48564745C>T	ENST00000376687.3	+	4	1108	c.918C>T	c.(916-918)gaC>gaT	p.D306D	SUV39H1_ENST00000337852.6_Silent_p.D317D|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Missense_Mutation_p.T154M|SUV39H1_ENST00000482260.1_3'UTR	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	306	Mediates interaction with MECOM. {ECO:0000250}.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ACGTGGAGGACGTGTACACCG	0.617																																																	0								C		0,3835		0,0,1632,571	82.0	71.0	75.0		918	-2.9	1.0	X	dbSNP_134	75	1,6727		0,1,2427,1872	no	coding-synonymous	SUV39H1	NM_003173.2		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		306/413	48564745	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	0			AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.918C>T	X.37:g.48564745C>T			B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	NULL	p.T154M	ENST00000376687.3	37	c.461	CCDS14304.1	X	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252289	0.22880	0.0	1.49E-4	ENSG00000101945	ENST00000453214	.	.	.	4.39	-2.93	0.05598	.	.	.	.	.	T	0.34221	0.0890	.	.	.	0.22112	N	0.999358	.	.	.	.	.	.	T	0.36696	-0.9737	4	.	.	.	.	11.2724	0.49147	0.0:0.2687:0.0:0.7313	.	.	.	.	M	154	.	.	T	+	2	0	SUV39H1	48449689	0.493000	0.26035	0.982000	0.44146	0.950000	0.60333	-0.306000	0.08178	-0.700000	0.05070	0.287000	0.19450	ACG	SUV39H1	-	NULL	ENSG00000101945		0.617	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV39H1	HGNC	protein_coding	OTTHUMT00000058909.1	-	0.00	52	0	C	NM_003173		48564745	+1	tier1	rs141546891	no_errors	ENST00000453214	ensembl	human	known	74_37	missense	79.25	11	42	SNP	0.960	T
SVEP1	79987	genome.wustl.edu	37	9	113173449	113173449	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:113173449T>C	ENST00000401783.2	-	37	6878	c.6542A>G	c.(6541-6543)gAa>gGa	p.E2181G	SVEP1_ENST00000297826.5_Missense_Mutation_p.E107G|SVEP1_ENST00000374469.1_Missense_Mutation_p.E2158G	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2181	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCTCTTCTTTTCCCCTTTGAT	0.507																																																	0													120.0	126.0	124.0					9																	113173449		1971	4145	6116	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6542A>G	9.37:g.113173449T>C	ENSP00000384917:p.Glu2181Gly		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.E2181G	ENST00000401783.2	37	c.6542	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	T	25.5	4.648890	0.87958	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.64618	-0.11;-0.11;-0.11	6.08	6.08	0.98989	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.75148	0.3810	L	0.58925	1.835	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.71334	-0.4624	10	0.25751	T	0.34	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	2181	Q4LDE5	SVEP1_HUMAN	G	2181;2158;107	ENSP00000384917:E2181G;ENSP00000363593:E2158G;ENSP00000297826:E107G	ENSP00000297826:E107G	E	-	2	0	SVEP1	112213270	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.840000	0.86819	2.333000	0.79357	0.482000	0.46254	GAA	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.507	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		-	0.00	84	0	T			113173449	-1	tier1	-	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	28.57	50	20	SNP	1.000	C
SVIL	6840	genome.wustl.edu	37	10	29820936	29820936	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:29820936C>T	ENST00000355867.4	-	9	2756	c.2004G>A	c.(2002-2004)tcG>tcA	p.S668S	SVIL_ENST00000375398.2_Silent_p.S668S|SVIL_ENST00000375400.3_Intron	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	668					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCTACCTATCCGATTCCTTTC	0.453																																																	0													127.0	125.0	125.0					10																	29820936		2203	4300	6503	SO:0001819	synonymous_variant	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2004G>A	10.37:g.29820936C>T			D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.S668	ENST00000355867.4	37	c.2004	CCDS7164.1	10																																																																																			SVIL	-	NULL	ENSG00000197321		0.453	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	-	0.00	31	0	C			29820936	-1	tier1	-	no_errors	ENST00000355867	ensembl	human	known	74_37	silent	22.73	34	10	SNP	0.003	T
SVOPL	136306	genome.wustl.edu	37	7	138333812	138333812	+	Missense_Mutation	SNP	C	C	T	rs151301864		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:138333812C>T	ENST00000419765.3	-	7	638	c.605G>A	c.(604-606)cGc>cAc	p.R202H	SVOPL_ENST00000421622.1_Missense_Mutation_p.R82H|SVOPL_ENST00000288513.5_Missense_Mutation_p.R50H|SVOPL_ENST00000436657.1_Missense_Mutation_p.R50H	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	202						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AATGAGCCAGCGCCACCCGAT	0.592																																																	0								C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	74.0	67.0	69.0		605,149	5.1	1.0	7	dbSNP_134	69	0,8600		0,0,4300	no	missense,missense	SVOPL	NM_001139456.1,NM_174959.2	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	202/493,50/341	138333812	1,13005	2203	4300	6503	SO:0001583	missense	0			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.605G>A	7.37:g.138333812C>T	ENSP00000405482:p.Arg202His			Missense_Mutation	SNP	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R50H	ENST00000419765.3	37	c.149	CCDS47721.1	7	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309829	0.60414	2.27E-4	0.0	ENSG00000157703	ENST00000288513;ENST00000421622;ENST00000436657;ENST00000419765	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.145941	0.53938	D	0.000060	D	0.84951	0.5586	M	0.90309	3.105	0.47698	D	0.99949	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.86875	0.2038	10	0.46703	T	0.11	-15.5726	17.3103	0.87207	0.0:1.0:0.0:0.0	.	202;50	Q8N434;Q8N434-2	SVOPL_HUMAN;.	H	50;82;50;202	ENSP00000288513:R50H;ENSP00000412830:R82H;ENSP00000417018:R50H;ENSP00000405482:R202H	ENSP00000288513:R50H	R	-	2	0	SVOPL	137984352	1.000000	0.71417	1.000000	0.80357	0.137000	0.21094	4.438000	0.59961	2.370000	0.80446	0.467000	0.42956	CGC	SVOPL	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000157703		0.592	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SVOPL	HGNC	protein_coding	OTTHUMT00000342092.4		0.00	83	0	C	NM_174959		138333812	-1			no_errors	ENST00000288513	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	T
SYBU	55638	genome.wustl.edu	37	8	110587964	110587964	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:110587964A>G	ENST00000422135.1	-	8	1678	c.1163T>C	c.(1162-1164)cTg>cCg	p.L388P	SYBU_ENST00000276646.9_Missense_Mutation_p.L388P|SYBU_ENST00000440310.1_Missense_Mutation_p.L388P|SYBU_ENST00000419099.1_Missense_Mutation_p.L387P|SYBU_ENST00000529175.1_Missense_Mutation_p.L182P|SYBU_ENST00000529690.1_Missense_Mutation_p.L258P|SYBU_ENST00000532779.1_Missense_Mutation_p.L320P|SYBU_ENST00000528331.1_Missense_Mutation_p.L269P|SYBU_ENST00000533895.1_Missense_Mutation_p.L387P|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000408908.2_Missense_Mutation_p.L388P|SYBU_ENST00000446070.2_Missense_Mutation_p.L387P|SYBU_ENST00000424158.2_Missense_Mutation_p.L393P|SYBU_ENST00000533065.1_Missense_Mutation_p.L269P|SYBU_ENST00000408889.3_Missense_Mutation_p.L269P|SYBU_ENST00000433638.1_Missense_Mutation_p.L388P|SYBU_ENST00000528647.1_Missense_Mutation_p.L387P|SYBU_ENST00000399066.3_Missense_Mutation_p.L385P|SYBU_ENST00000533171.1_Missense_Mutation_p.L388P	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	388	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GTCTAGGCACAGTTCGTCCCT	0.483																																																	0													74.0	79.0	77.0					8																	110587964		1982	4165	6147	SO:0001583	missense	0			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1163T>C	8.37:g.110587964A>G	ENSP00000407118:p.Leu388Pro		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	NULL	p.L388P	ENST00000422135.1	37	c.1163	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	A	10.07	1.248992	0.22880	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.89	4.62	0.57501	.	0.488467	0.22308	N	0.061771	T	0.47691	0.1459	L	0.39085	1.19	0.53688	D	0.999971	B;D;B;B;B	0.53151	0.01;0.958;0.004;0.01;0.01	B;P;B;B;B	0.51229	0.006;0.663;0.009;0.006;0.006	T	0.44205	-0.9343	9	0.42905	T	0.14	-16.3088	6.0956	0.20019	0.7296:0.0:0.0841:0.1863	.	258;320;387;388;385	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	P	387;393;320;385;387;269;182;388;387;388;387;388;388;388;269;269;258;388	.	ENSP00000276646:L388P	L	-	2	0	SYBU	110657140	0.868000	0.29978	1.000000	0.80357	0.898000	0.52572	1.700000	0.37815	2.251000	0.74343	0.482000	0.46254	CTG	SYBU	-	NULL	ENSG00000147642		0.483	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	-	0.00	62	0	A	NM_017786		110587964	-1	tier1	-	no_errors	ENST00000276646	ensembl	human	known	74_37	missense	30.00	49	21	SNP	0.998	G
SYCP1	6847	genome.wustl.edu	37	1	115537601	115537601	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:115537601delA	ENST00000369522.3	+	32	3132	c.2892delA	c.(2890-2892)agafs	p.R964fs	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Del_p.R964fs	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	964	Arg/Lys-rich (basic).				chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATGGATAGAAAAAAAAAAC	0.353																																																	0										97,41,4116		2,3,90,0,38,1994	42.0	47.0	45.0			5.1	1.0	1		47	108,62,8066		1,0,106,1,60,3950	no	codingComplex	SYCP1	NM_003176.2		3,3,196,1,98,5944	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0641,3.244,2.466			115537601	205,103,12182	2200	4297	6497	SO:0001589	frameshift_variant	0			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2892delA	1.37:g.115537601delA	ENSP00000358535:p.Arg964fs		O14963|Q5VXJ6	Frame_Shift_Del	DEL	pfam_SCP-1	p.K967fs	ENST00000369522.3	37	c.2892	CCDS879.1	1																																																																																			SYCP1	-	NULL	ENSG00000198765		0.353	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1		0.00	35	0	A	NM_003176		115537601	+1	tier1		no_errors	ENST00000369518	ensembl	human	known	74_37	frame_shift_del	34.29	23	12	DEL	1.000	-
SYCP2	10388	genome.wustl.edu	37	20	58452519	58452519	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:58452519delT	ENST00000357552.3	-	33	3296	c.3071delA	c.(3070-3072)aacfs	p.N1024fs	SYCP2_ENST00000371001.2_Frame_Shift_Del_p.N1024fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1024					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATCTTTATAGTTTTTTTTTGT	0.328																																																	0													58.0	61.0	60.0					20																	58452519		2200	4295	6495	SO:0001589	frameshift_variant	0			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3071delA	20.37:g.58452519delT	ENSP00000350162:p.Asn1024fs		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Del	DEL	NULL	p.N1024fs	ENST00000357552.3	37	c.3071	CCDS13482.1	20																																																																																			SYCP2	-	NULL	ENSG00000196074		0.328	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3		0.00	53	0	T	NM_014258		58452519	-1	tier1		no_errors	ENST00000357552	ensembl	human	known	74_37	frame_shift_del	25.00	63	21	DEL	1.000	-
SYCP2	10388	genome.wustl.edu	37	20	58467047	58467047	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:58467047delT	ENST00000357552.3	-	24	2587	c.2362delA	c.(2362-2364)atgfs	p.M788fs	SYCP2_ENST00000371001.2_Frame_Shift_Del_p.M788fs			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	788					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.M788fs*1(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAGCTCACCATTTTTTTTTGT	0.323																																																	1	Deletion - Frameshift(1)	ovary(1)											72.0	69.0	70.0					20																	58467047		2202	4299	6501	SO:0001589	frameshift_variant	0			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2362delA	20.37:g.58467047delT	ENSP00000350162:p.Met788fs		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Frame_Shift_Del	DEL	NULL	p.M788fs	ENST00000357552.3	37	c.2362	CCDS13482.1	20																																																																																			SYCP2	-	NULL	ENSG00000196074		0.323	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3		0.00	53	0	T	NM_014258		58467047	-1	tier1		no_errors	ENST00000357552	ensembl	human	known	74_37	frame_shift_del	32.08	36	17	DEL	0.029	-
SYCP2L	221711	genome.wustl.edu	37	6	10903158	10903158	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:10903158delA	ENST00000283141.6	+	8	899	c.603delA	c.(601-603)agafs	p.R201fs	SYCP2L_ENST00000543878.1_Frame_Shift_Del_p.R42fs|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	201						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GAGAAGAGAGAAAAAAATTCC	0.393																																																	0																																										SO:0001589	frameshift_variant	0			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.603delA	6.37:g.10903158delA	ENSP00000283141:p.Arg201fs		A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Frame_Shift_Del	DEL	NULL	p.K203fs	ENST00000283141.6	37	c.603	CCDS43423.1	6																																																																																			SYCP2L	-	NULL	ENSG00000153157		0.393	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	HGNC	protein_coding	OTTHUMT00000039845.3		0.00	65	0	A	NM_194299		10903158	+1	tier1		no_errors	ENST00000283141	ensembl	human	known	74_37	frame_shift_del	46.43	30	26	DEL	0.010	-
SYN2	6854	genome.wustl.edu	37	3	12225293	12225293	+	RNA	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:12225293delG	ENST00000432424.2	+	0	1962							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AATGGGAGTAGGGGGGTGGAC	0.458																																																	0																																												0				CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12225293delG			A8MY98	RNA	DEL	-	NULL	ENST00000432424.2	37	NULL		3																																																																																			SYN2	-	-	ENSG00000157152		0.458	SYN2-002	KNOWN	basic	processed_transcript	SYN2	HGNC	processed_transcript	OTTHUMT00000339528.3		0.00	29	0	G	NM_133625		12225293	+1	tier1		no_errors	ENST00000432424	ensembl	human	known	74_37	rna	40.00	18	12	DEL	0.000	-
SYN3	8224	genome.wustl.edu	37	22	32924884	32924884	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:32924884C>A	ENST00000358763.2	-	11	1449	c.1207G>T	c.(1207-1209)Gcg>Tcg	p.A403S	SYN3_ENST00000332840.5_Missense_Mutation_p.A403S	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	403	J; Pro-rich linker.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGGGAGGGCGCTGTGCCTCCT	0.562											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													67.0	54.0	58.0					22																	32924884		2203	4300	6503	SO:0001583	missense	0			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1207G>T	22.37:g.32924884C>A	ENSP00000351614:p.Ala403Ser	836	B1B1F9	Missense_Mutation	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin	p.A403S	ENST00000358763.2	37	c.1207	CCDS13908.1	22	.	.	.	.	.	.	.	.	.	.	C	8.493	0.862556	0.17178	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000445154;ENST00000390686	T;T	0.29142	1.58;1.58	5.15	4.14	0.48551	.	1.068870	0.07235	N	0.863331	T	0.16300	0.0392	N	0.12182	0.205	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.31024	-0.9958	10	0.16420	T	0.52	-0.0306	4.6131	0.12413	0.1763:0.648:0.0:0.1757	.	402;403;403	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	S	403;403;37;403	ENSP00000351614:A403S;ENSP00000330219:A403S	ENSP00000330219:A403S	A	-	1	0	SYN3	31254884	0.019000	0.18553	0.831000	0.32960	0.574000	0.36063	1.168000	0.31859	1.404000	0.46819	0.563000	0.77884	GCG	SYN3	-	NULL	ENSG00000185666		0.562	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN3	HGNC	protein_coding	OTTHUMT00000075892.4	-	0.00	13	0	C			32924884	-1	tier1	-	no_errors	ENST00000332840	ensembl	human	known	74_37	missense	42.86	8	6	SNP	0.360	A
SYNDIG1	79953	genome.wustl.edu	37	20	24523996	24523996	+	Missense_Mutation	SNP	G	G	A	rs370102448		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:24523996G>A	ENST00000376862.3	+	2	896	c.263G>A	c.(262-264)cGg>cAg	p.R88Q		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	88					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						TCCCGCTACCGGCCCAACATC	0.672																																																	0								G	GLN/ARG	0,4406		0,0,2203	48.0	47.0	47.0		263	4.0	0.2	20		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	SYNDIG1	NM_024893.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	88/259	24523996	1,13005	2203	4300	6503	SO:0001583	missense	0			AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.263G>A	20.37:g.24523996G>A	ENSP00000366058:p.Arg88Gln		Q6IA30|Q9H514	Missense_Mutation	SNP	pfam_CD225/Dispanin_fam	p.R88Q	ENST00000376862.3	37	c.263	CCDS13164.1	20	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878279	0.51801	0.0	1.16E-4	ENSG00000101463	ENST00000376862	D	0.91068	-2.78	5.95	4.01	0.46588	.	0.184523	0.47852	D	0.000207	D	0.86727	0.6002	M	0.70275	2.135	0.46849	D	0.999227	P	0.44006	0.824	B	0.32583	0.148	D	0.84426	0.0574	10	0.45353	T	0.12	-10.4517	10.7276	0.46077	0.1546:0.0:0.8454:0.0	.	88	Q9H7V2	SYNG1_HUMAN	Q	88	ENSP00000366058:R88Q	ENSP00000366058:R88Q	R	+	2	0	SYNDIG1	24471996	1.000000	0.71417	0.214000	0.23707	0.503000	0.33858	3.693000	0.54735	0.854000	0.35336	0.655000	0.94253	CGG	SYNDIG1	-	NULL	ENSG00000101463		0.672	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNDIG1	HGNC	protein_coding	OTTHUMT00000078376.1	-	0.00	56	0	G	NM_024893		24523996	+1	tier1	-	no_errors	ENST00000376862	ensembl	human	known	74_37	missense	52.27	21	23	SNP	0.903	A
SYNE1	23345	genome.wustl.edu	37	6	152711425	152711425	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:152711425G>T	ENST00000367255.5	-	53	8768	c.8167C>A	c.(8167-8169)Cac>Aac	p.H2723N	SYNE1_ENST00000448038.1_Missense_Mutation_p.H2730N|SYNE1_ENST00000341594.5_Missense_Mutation_p.H2762N|SYNE1_ENST00000423061.1_Missense_Mutation_p.H2730N|SYNE1_ENST00000265368.4_Missense_Mutation_p.H2723N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2723					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTGAGCGTGGACGGAGGAG	0.453										HNSCC(10;0.0054)																																							0													152.0	126.0	135.0					6																	152711425		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8167C>A	6.37:g.152711425G>T	ENSP00000356224:p.His2723Asn		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.H2723N	ENST00000367255.5	37	c.8167	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049991	0.36181	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	6.17	5.19	0.71726	.	0.636516	0.14988	N	0.286860	T	0.06690	0.0171	L	0.31294	0.92	0.21604	N	0.999623	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.11329	0.0;0.001;0.001;0.006	T	0.35051	-0.9804	10	0.07644	T	0.81	.	8.2853	0.31924	0.098:0.0:0.7207:0.1812	.	2706;2723;2723;2730	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	2723;2730;2723;2730;2762	ENSP00000356224:H2723N;ENSP00000396024:H2730N;ENSP00000265368:H2723N;ENSP00000390975:H2730N;ENSP00000341887:H2762N	ENSP00000265368:H2723N	H	-	1	0	SYNE1	152753118	0.875000	0.30112	0.002000	0.10522	0.670000	0.39368	2.821000	0.48065	1.368000	0.46115	0.655000	0.94253	CAC	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	103	0	G	NM_182961		152711425	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	5.43	122	7	SNP	0.003	T
SYNE2	23224	genome.wustl.edu	37	14	64450606	64450606	+	Splice_Site	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:64450606T>C	ENST00000344113.4	+	18	2363		c.e18+2		SYNE2_ENST00000358025.3_Splice_Site|SYNE2_ENST00000357395.3_Splice_Site|SYNE2_ENST00000554584.1_Splice_Site	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATATAAAGGTAAAATAATCA	0.289																																																	0													13.0	12.0	12.0					14																	64450606		1768	4015	5783	SO:0001630	splice_region_variant	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2151+2T>C	14.37:g.64450606T>C			Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Splice_Site	SNP	-	e17+2	ENST00000344113.4	37	c.2151+2	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	T	12.99	2.102820	0.37145	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4422	0.61119	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYNE2	63520359	1.000000	0.71417	0.969000	0.41365	0.273000	0.26683	4.048000	0.57390	2.232000	0.73038	0.528000	0.53228	.	SYNE2	-	-	ENSG00000054654		0.289	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	-	0.00	39	0	T	NM_182914	Intron	64450606	+1	tier1	-	no_errors	ENST00000358025	ensembl	human	known	74_37	splice_site	36.76	43	25	SNP	1.000	C
SYNGR4	23546	genome.wustl.edu	37	19	48878957	48878957	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:48878957G>A	ENST00000344846.2	+	4	669	c.419G>A	c.(418-420)aGc>aAc	p.S140N	SYNGR4_ENST00000601610.1_Missense_Mutation_p.S91N|SYNGR4_ENST00000595322.1_Intron	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	140	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					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)		CTCCTGGGGAGCAGCAGTGCC	0.607																																																	0													96.0	87.0	90.0					19																	48878957		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.419G>A	19.37:g.48878957G>A	ENSP00000344041:p.Ser140Asn		Q3KP58	Missense_Mutation	SNP	pfam_Marvel,pirsf_Synaptogyrin	p.S140N	ENST00000344846.2	37	c.419	CCDS12717.1	19	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366724	0.24771	.	.	ENSG00000105467	ENST00000344846	T	0.25250	1.81	4.53	-1.36	0.09085	Marvel (1);MARVEL-like domain (1);	0.397675	0.29806	N	0.011159	T	0.21761	0.0524	M	0.72118	2.19	0.20074	N	0.999939	B	0.12630	0.006	B	0.14578	0.011	T	0.18335	-1.0340	10	0.32370	T	0.25	-0.8982	6.1413	0.20261	0.4059:0.1291:0.465:0.0	.	140	O95473	SNG4_HUMAN	N	140	ENSP00000344041:S140N	ENSP00000344041:S140N	S	+	2	0	SYNGR4	53570769	0.680000	0.27605	0.996000	0.52242	0.904000	0.53231	0.752000	0.26362	-0.001000	0.14495	0.555000	0.69702	AGC	SYNGR4	-	pfam_Marvel,pirsf_Synaptogyrin	ENSG00000105467		0.607	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR4	HGNC	protein_coding	OTTHUMT00000465704.1	-	0.00	57	0	G			48878957	+1	tier1	-	no_errors	ENST00000344846	ensembl	human	known	74_37	missense	32.35	23	11	SNP	0.492	A
SYNJ1	8867	genome.wustl.edu	37	21	34018914	34018914	+	Splice_Site	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:34018914T>C	ENST00000322229.7	-	23	3037		c.e23-2		SYNJ1_ENST00000382491.3_Splice_Site|SYNJ1_ENST00000382499.2_Splice_Site|SYNJ1_ENST00000433931.2_Splice_Site|SYNJ1_ENST00000357345.3_Splice_Site			O43426	SYNJ1_HUMAN	synaptojanin 1						cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CAACATCACCTAAGGAAAAGC	0.403																																																	0													61.0	62.0	61.0					21																	34018914		2203	4300	6503	SO:0001630	splice_region_variant	0			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3038-2A>G	21.37:g.34018914T>C			O43425|O94984|Q4KMR1	Splice_Site	SNP	-	e24-2	ENST00000322229.7	37	c.3155-2	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	T	17.51	3.408166	0.62399	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229	.	.	.	5.52	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.949	0.52944	0.1301:0.0:0.0:0.8699	.	.	.	.	.	-1	.	.	.	-	.	.	SYNJ1	32940785	1.000000	0.71417	0.687000	0.30102	0.947000	0.59692	6.857000	0.75455	0.898000	0.36418	0.533000	0.62120	.	SYNJ1	-	-	ENSG00000159082		0.403	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		-	0.00	17	0	T		Intron	34018914	-1	tier1	-	no_errors	ENST00000433931	ensembl	human	known	74_37	splice_site	52.78	17	19	SNP	0.978	C
SYNJ1	8867	genome.wustl.edu	37	21	34029062	34029062	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:34029062delA	ENST00000322229.7	-	20	2729	c.2730delT	c.(2728-2730)tttfs	p.F910fs	SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000382491.3_Frame_Shift_Del_p.F905fs|SYNJ1_ENST00000382499.2_Frame_Shift_Del_p.F949fs|SYNJ1_ENST00000433931.2_Frame_Shift_Del_p.F949fs|SYNJ1_ENST00000357345.3_Frame_Shift_Del_p.F910fs			O43426	SYNJ1_HUMAN	synaptojanin 1	910	Pro-rich.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AGGCATCATCAAAAAAATTAT	0.338																																																	0													55.0	57.0	56.0					21																	34029062		2203	4300	6503	SO:0001589	frameshift_variant	0			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.2730delT	21.37:g.34029062delA	ENSP00000322234:p.Phe910fs		O43425|O94984|Q4KMR1	Frame_Shift_Del	DEL	pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.F949fs	ENST00000322229.7	37	c.2847	CCDS54484.1	21																																																																																			SYNJ1	-	pfam_DUF1866,pfscan_RRM_dom	ENSG00000159082		0.338	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding			0.00	35	0	A			34029062	-1	tier1		no_errors	ENST00000433931	ensembl	human	known	74_37	frame_shift_del	34.69	32	17	DEL	0.999	-
SYNM	23336	genome.wustl.edu	37	15	99670066	99670066	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:99670066G>A	ENST00000560674.1	+	4	1112	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K	SYNM_ENST00000328642.7_Missense_Mutation_p.E500K|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000336292.6_Missense_Mutation_p.E500K			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	501	Coil 2.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AAAGAAAACAGAAGTGAAAGC	0.512																																					Pancreas(125;1071 1762 21750 40003 40381)												0													38.0	39.0	39.0					15																	99670066		1929	4131	6060	SO:0001583	missense	0			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.643G>A	15.37:g.99670066G>A	ENSP00000453040:p.Glu215Lys		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	pfam_IF	p.E500K	ENST00000560674.1	37	c.1498		15	.	.	.	.	.	.	.	.	.	.	G	21.6	4.178306	0.78564	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.28255	1.62;1.62	5.64	5.64	0.86602	.	.	.	.	.	T	0.44519	0.1297	.	.	.	0.22330	N	0.99919	D;D	0.60575	0.959;0.988	P;P	0.54759	0.556;0.76	T	0.40059	-0.9583	8	0.87932	D	0	.	12.0622	0.53568	0.0783:0.0:0.9217:0.0	.	501;500	O15061;C9JIE4	SYNEM_HUMAN;.	K	500	ENSP00000336775:E500K;ENSP00000330469:E500K	ENSP00000330469:E500K	E	+	1	0	SYNM	97487589	0.015000	0.18098	0.216000	0.23742	0.674000	0.39518	1.237000	0.32695	2.659000	0.90383	0.563000	0.77884	GAA	SYNM	-	NULL	ENSG00000182253		0.512	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	SYNM	HGNC	protein_coding	OTTHUMT00000415698.2	-	0.00	30	0	G	NM_145728		99670066	+1	tier1	-	no_errors	ENST00000336292	ensembl	human	known	74_37	missense	35.29	11	6	SNP	0.339	A
SYNM	23336	genome.wustl.edu	37	15	99672504	99672504	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:99672504T>C	ENST00000336292.6	+	5	4056	c.3936T>C	c.(3934-3936)atT>atC	p.I1312I	SYNM_ENST00000328642.7_Intron|SYNM_ENST00000560674.1_Intron|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1313	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ACATCAGCATTGGGCCTCAGA	0.552																																					Pancreas(125;1071 1762 21750 40003 40381)												0													138.0	144.0	142.0					15																	99672504		2120	4227	6347	SO:0001819	synonymous_variant	0			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.3936T>C	15.37:g.99672504T>C			A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	pfam_IF	p.I1312	ENST00000336292.6	37	c.3936		15																																																																																			SYNM	-	NULL	ENSG00000182253		0.552	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	SYNM	HGNC	protein_coding		-	0.00	26	0	T	NM_145728		99672504	+1	tier1	-	no_errors	ENST00000336292	ensembl	human	known	74_37	silent	40.00	9	6	SNP	0.000	C
SYNPO	11346	genome.wustl.edu	37	5	150027558	150027558	+	Silent	SNP	G	G	A	rs372695074		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:150027558G>A	ENST00000394243.1	+	3	827	c.453G>A	c.(451-453)gcG>gcA	p.A151A	SYNPO_ENST00000519664.1_5'UTR|SYNPO_ENST00000518872.1_Intron|SYNPO_ENST00000307662.4_5'UTR|SYNPO_ENST00000522122.1_Silent_p.A151A	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	151					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCCAAGGCGCGGAGCCAGC	0.597																																																	0								G	,,,	1,1383		0,1,691	50.0	61.0	58.0		,453,453,	-10.3	0.0	5		58	1,3181		0,1,1590	no	utr-5,coding-synonymous,coding-synonymous,utr-5	SYNPO	NM_001109974.2,NM_001166208.1,NM_001166209.1,NM_007286.5	,,,	0,2,2281	AA,AG,GG		0.0314,0.0723,0.0438	,,,	,151/930,151/930,	150027558	2,4564	692	1591	2283	SO:0001819	synonymous_variant	0			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.453G>A	5.37:g.150027558G>A			A5PKZ8|D3DQG8|O15271|Q9UPX1	Silent	SNP	NULL	p.A151	ENST00000394243.1	37	c.453	CCDS54937.1	5																																																																																			SYNPO	-	NULL	ENSG00000171992		0.597	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	-	0.00	35	0	G	NM_007286		150027558	+1	tier1	-	no_errors	ENST00000394243	ensembl	human	known	74_37	silent	35.71	26	15	SNP	0.002	A
SYNPO2	171024	genome.wustl.edu	37	4	119951528	119951528	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:119951528C>T	ENST00000429713.2	+	4	1780	c.1598C>T	c.(1597-1599)aCg>aTg	p.T533M	SYNPO2_ENST00000307142.4_Missense_Mutation_p.T533M|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.T533M	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	533						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)	p.T533M(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTGAGAACCACGACTTCTTAC	0.507																																																	2	Substitution - Missense(2)	prostate(2)											68.0	60.0	63.0					4																	119951528		2203	4300	6503	SO:0001583	missense	0			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1598C>T	4.37:g.119951528C>T	ENSP00000395143:p.Thr533Met		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T533M	ENST00000429713.2	37	c.1598	CCDS47129.1	4	.	.	.	.	.	.	.	.	.	.	C	0.233	-1.019860	0.02078	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.44083	0.93;0.93;0.93	5.38	-3.77	0.04346	.	1.860810	0.02473	N	0.087752	T	0.21550	0.0519	N	0.03115	-0.41	0.09310	N	1	B;B;B;B	0.13594	0.003;0.005;0.008;0.003	B;B;B;B	0.11329	0.002;0.006;0.002;0.002	T	0.22487	-1.0215	9	.	.	.	0.2208	12.6726	0.56876	0.0:0.5212:0.0:0.4788	.	533;533;533;533	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	M	533	ENSP00000306015:T533M;ENSP00000395143:T533M;ENSP00000390965:T533M	.	T	+	2	0	SYNPO2	120170976	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.306000	0.08178	-0.972000	0.03559	-1.306000	0.01317	ACG	SYNPO2	-	NULL	ENSG00000172403		0.507	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	SYNPO2	HGNC	protein_coding	OTTHUMT00000364020.1	-	0.00	28	0	C			119951528	+1	tier1	-	no_errors	ENST00000307142	ensembl	human	known	74_37	missense	41.67	7	5	SNP	0.000	T
SYNPO2L	79933	genome.wustl.edu	37	10	75407478	75407478	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:75407478C>T	ENST00000394810.2	-	4	2081	c.1932G>A	c.(1930-1932)acG>acA	p.T644T	SYNPO2L_ENST00000372873.4_Silent_p.T420T	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	644	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCGAGTTCTTCGTCTCCTCCT	0.637																																																	0													78.0	92.0	87.0					10																	75407478		2202	4300	6502	SO:0001819	synonymous_variant	0			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1932G>A	10.37:g.75407478C>T			A5PKV9|Q68A20	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T644	ENST00000394810.2	37	c.1932	CCDS44438.1	10																																																																																			SYNPO2L	-	NULL	ENSG00000166317		0.637	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNPO2L	HGNC	protein_coding	OTTHUMT00000316562.2	-	0.00	43	0	C	NM_024875		75407478	-1	tier1	-	no_errors	ENST00000394810	ensembl	human	known	74_37	silent	19.35	25	6	SNP	0.921	T
SYNPO2L	79933	genome.wustl.edu	37	10	75415607	75415608	+	Frame_Shift_Ins	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:75415607_75415608insC	ENST00000394810.2	-	1	222_223	c.73_74insG	c.(73-75)gccfs	p.A25fs	RP11-464F9.21_ENST00000606726.1_RNA|RP11-464F9.21_ENST00000607450.1_RNA	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	25	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CCTCTGCTCGGCCCCCCCATGA	0.609																																																	0																																										SO:0001589	frameshift_variant	0			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.74dupG	10.37:g.75415614_75415614dupC	ENSP00000378289:p.Ala25fs		A5PKV9|Q68A20	Frame_Shift_Ins	INS	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A25fs	ENST00000394810.2	37	c.74_73	CCDS44438.1	10																																																																																			SYNPO2L	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000166317		0.609	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNPO2L	HGNC	protein_coding	OTTHUMT00000316562.2		0.00	65	0	-	NM_024875		75415608	-1	tier1		no_errors	ENST00000394810	ensembl	human	known	74_37	frame_shift_ins	45.28	29	24	INS	1.000:1.000	C
SYT6	148281	genome.wustl.edu	37	1	114680475	114680475	+	Missense_Mutation	SNP	C	C	T	rs201154501		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:114680475C>T	ENST00000610222.1	-	3	859	c.713G>A	c.(712-714)cGc>cAc	p.R238H	SYT6_ENST00000393296.1_Missense_Mutation_p.R238H|SYT6_ENST00000609117.1_Missense_Mutation_p.R153H|SYT6_ENST00000369547.1_Missense_Mutation_p.R153H|SYT6_ENST00000607941.1_Missense_Mutation_p.R153H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	238	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAATCGTAGCGTAGGCTGAA	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		22807	0.0		0.0	False		,,,				2504	0.001																0													163.0	137.0	146.0					1																	114680475		2203	4300	6503	SO:0001583	missense	0				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.713G>A	1.37:g.114680475C>T	ENSP00000476396:p.Arg238His		B1AMB8|B3KPK1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.R238H	ENST00000610222.1	37	c.713		1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.206360	0.39003	.	.	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	5.47	4.45	0.53987	C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.117416	0.56097	D	0.000036	T	0.02012	0.0063	N	0.24115	0.695	0.42205	D	0.99178	P	0.38922	0.651	B	0.34242	0.178	T	0.40572	-0.9556	10	0.62326	D	0.03	.	3.5411	0.07811	0.0:0.6418:0.0:0.3582	.	238	Q5T7P8	SYT6_HUMAN	H	153;238;153;238	ENSP00000358560:R153H;ENSP00000376974:R238H;ENSP00000358559:R153H;ENSP00000358558:R238H	ENSP00000358558:R238H	R	-	2	0	SYT6	114481998	1.000000	0.71417	0.990000	0.47175	0.138000	0.21146	4.100000	0.57762	2.564000	0.86499	0.655000	0.94253	CGC	SYT6	-	superfamily_C2_dom,prints_Synaptotagmin	ENSG00000134207		0.542	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SYT6	HGNC	protein_coding	OTTHUMT00000314819.2	-	0.00	88	0	C	NM_205848		114680475	-1	tier1	rs201154501	no_errors	ENST00000393296	ensembl	human	known	74_37	missense	36.36	70	40	SNP	1.000	T
SYT7	9066	genome.wustl.edu	37	11	61309776	61309776	+	Intron	SNP	C	C	T	rs542657552	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:61309776C>T	ENST00000263846.4	-	3	543				RP11-794G24.1_ENST00000540906.1_lincRNA|SYT7_ENST00000542670.1_Missense_Mutation_p.R208Q|SYT7_ENST00000540677.1_Intron|SYT7_ENST00000542836.1_Intron|SYT7_ENST00000535826.1_Intron|SYT7_ENST00000539008.1_Missense_Mutation_p.R283Q	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII						exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCTGCCGCCCGGTACTTGGA	0.701													C|||	2	0.000399361	0.0	0.0	5008	,	,		10942	0.0		0.0	False		,,,				2504	0.002																0																																										SO:0001627	intron_variant	0			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.215+9079G>A	11.37:g.61309776C>T			F5GZU9|Q08AH6	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.R283Q	ENST00000263846.4	37	c.848	CCDS31577.1	11	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392515	0.62066	.	.	ENSG00000011347	ENST00000539008;ENST00000542670	T;T	0.62788	0.08;0.0	3.78	2.79	0.32731	.	.	.	.	.	T	0.67702	0.2921	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67956	-0.5536	5	.	.	.	.	13.7043	0.62629	0.0:0.8449:0.1551:0.0	.	.	.	.	Q	283;208	ENSP00000439694:R283Q;ENSP00000444019:R208Q	.	R	-	2	0	SYT7	61066352	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.271000	0.51608	1.822000	0.53115	0.313000	0.20887	CGG	SYT7	-	NULL	ENSG00000011347		0.701	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT7	HGNC	protein_coding	OTTHUMT00000398733.1	-	0.00	45	0	C	NM_004200		61309776	-1	tier1	-	no_errors	ENST00000539008	ensembl	human	novel	74_37	missense	51.11	22	23	SNP	1.000	T
SYTL1	84958	genome.wustl.edu	37	1	27677345	27677345	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:27677345G>A	ENST00000543823.1	+	10	1528	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.E344K			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	356	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGCACCGCGAAAGCCTGGG	0.652																																																	0													69.0	61.0	63.0					1																	27677345		2203	4300	6503	SO:0001583	missense	0			AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1066G>A	1.37:g.27677345G>A	ENSP00000440704:p.Glu356Lys		Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ	p.E356K	ENST00000543823.1	37	c.1066	CCDS53286.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.759475	0.96898	.	.	ENSG00000142765	ENST00000318074;ENST00000543823;ENST00000485269	T;T	0.08102	3.13;3.13	4.49	4.49	0.54785	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.110120	0.64402	D	0.000010	T	0.18425	0.0442	L	0.31207	0.915	0.58432	D	0.999994	D;D	0.71674	0.998;0.997	D;D	0.70935	0.971;0.942	T	0.01781	-1.1275	10	0.72032	D	0.01	-14.1663	16.1755	0.81847	0.0:0.0:1.0:0.0	.	356;344	Q8IYJ3;Q8IYJ3-2	SYTL1_HUMAN;.	K	344;356;109	ENSP00000316464:E344K;ENSP00000440704:E356K	ENSP00000316464:E344K	E	+	1	0	SYTL1	27549932	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.581000	0.82535	2.337000	0.79520	0.456000	0.33151	GAA	SYTL1	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000142765		0.652	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL1	HGNC	protein_coding		-	0.00	41	0	G	NM_032872		27677345	+1	tier1	-	no_errors	ENST00000543823	ensembl	human	known	74_37	missense	45.45	24	20	SNP	1.000	A
SYTL2	54843	genome.wustl.edu	37	11	85437604	85437604	+	Intron	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:85437604G>T	ENST00000528231.1	-	7	1737				SYTL2_ENST00000354566.3_5'Flank|SYTL2_ENST00000359152.5_Missense_Mutation_p.P490T|SYTL2_ENST00000525423.1_5'UTR|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000527523.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTTGAGGGAGGTTGCAGTGCT	0.403																																																	0																																										SO:0001627	intron_variant	0			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+1334C>A	11.37:g.85437604G>T			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P490T	ENST00000528231.1	37	c.1468	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	0.573	-0.840117	0.02692	.	.	ENSG00000137501	ENST00000359152	T	0.27402	1.67	5.28	0.976	0.19727	.	1.868900	0.02146	N	0.057549	T	0.20780	0.0500	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15350	-1.0440	6	.	.	.	0.5837	4.8749	0.13651	0.1639:0.0:0.5423:0.2938	.	.	.	.	T	490	ENSP00000352065:P490T	.	P	-	1	0	SYTL2	85115252	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.314000	0.19432	0.196000	0.20367	-0.137000	0.14449	CCT	SYTL2	-	NULL	ENSG00000137501		0.403	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	-	0.00	40	0	G	NM_206927		85437604	-1	tier1	-	no_errors	ENST00000359152	ensembl	human	known	74_37	missense	8.70	42	4	SNP	0.000	T
SZT2	23334	genome.wustl.edu	37	1	43909268	43909268	+	Splice_Site	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:43909268C>T	ENST00000562955.1	+	61	8455	c.8455C>T	c.(8455-8457)Cgg>Tgg	p.R2819W	SZT2_ENST00000372442.1_Splice_Site_p.R1977W	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2876					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)		p.R1977W(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTCTCATAGCGGCGCCATCG	0.607																																																	2	Substitution - Missense(2)	NS(2)											50.0	52.0	51.0					1																	43909268		2203	4300	6503	SO:0001630	splice_region_variant	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8455-1C>T	1.37:g.43909268C>T			A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.R2819W	ENST00000562955.1	37	c.8455	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034298	0.35893	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.36	3.45	0.39498	.	0.198936	0.39834	N	0.001260	T	0.47192	0.1432	N	0.22421	0.69	0.28974	N	0.88904	D	0.89917	1.0	D	0.68765	0.96	T	0.46076	-0.9217	8	.	.	.	.	13.9931	0.64378	0.4641:0.5359:0.0:0.0	.	2819	Q5T011-5	.	W	1977	.	.	R	+	1	2	SZT2	43681855	1.000000	0.71417	0.998000	0.56505	0.378000	0.30076	3.334000	0.52097	0.616000	0.30141	-0.175000	0.13238	CGG	SZT2	-	NULL	ENSG00000198198		0.607	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	-	0.00	29	0	C	NM_015284	Missense_Mutation	43909268	+1	tier1	-	no_errors	ENST00000562955	ensembl	human	known	74_37	missense	55.56	8	10	SNP	1.000	T
TAC4	255061	genome.wustl.edu	37	17	47918915	47918915	+	Splice_Site	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:47918915delT	ENST00000334568.4	-	3	248	c.249delA	c.(247-249)aaa>aa	p.K83fs	TAC4_ENST00000436235.1_Splice_Site_p.K77fs|TAC4_ENST00000352793.2_Intron|TAC4_ENST00000326219.5_Splice_Site_p.K77fs|TAC4_ENST00000398154.1_Intron	NM_170685.2	NP_733786.2			tachykinin 4 (hemokinin)											breast(1)|large_intestine(1)|lung(3)	5						AATACTTACCTTTTTTTCTCC	0.552																																																	0													113.0	119.0	117.0					17																	47918915		1933	4137	6070	SO:0001630	splice_region_variant	0			AF521560	CCDS42357.1, CCDS42358.1, CCDS42359.1, CCDS42360.1, CCDS45727.1	17q21.33	2014-01-30			ENSG00000176358	ENSG00000176358		"""Endogenous ligands"""	16641	protein-coding gene	gene with protein product		607833				11062498, 12383518	Standard	NM_170685		Approved	HK-1, Pptc, PPT-C	uc002ipp.1	Q86UU9	OTTHUMG00000161830	ENST00000334568.4:c.250+1A>-	17.37:g.47918915delT				Frame_Shift_Del	DEL	NULL	p.A84fs	ENST00000334568.4	37	c.249	CCDS42357.1	17																																																																																			TAC4	-	NULL	ENSG00000176358		0.552	TAC4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAC4	HGNC	protein_coding	OTTHUMT00000366198.1		0.00	219	0	T	NM_170685	Frame_Shift_Del	47918915	-1	tier1		no_errors	ENST00000334568	ensembl	human	known	74_37	frame_shift_del	33.60	164	83	DEL	0.021	-
TACR3	6870	genome.wustl.edu	37	4	104640371	104640371	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:104640371G>A	ENST00000304883.2	-	1	602	c.462C>T	c.(460-462)ggC>ggT	p.G154G		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	154					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGTAGTTGGCGCCAAAGTACC	0.537																																																	0													90.0	84.0	86.0					4																	104640371		2203	4300	6503	SO:0001819	synonymous_variant	0			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.462C>T	4.37:g.104640371G>A			Q0P510	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt	p.G154	ENST00000304883.2	37	c.462	CCDS3664.1	4																																																																																			TACR3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt	ENSG00000169836		0.537	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR3	HGNC	protein_coding	OTTHUMT00000253804.1	-	0.00	53	0	G	NM_001059		104640371	-1	tier1	-	no_errors	ENST00000304883	ensembl	human	known	74_37	silent	48.72	20	19	SNP	0.170	A
TADA1	117143	genome.wustl.edu	37	1	166826910	166826910	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:166826910A>G	ENST00000367874.4	-	8	995	c.902T>C	c.(901-903)aTt>aCt	p.I301T	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	301					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						GATCCTTTCAATGTTAAGAGC	0.443																																																	0													143.0	142.0	142.0					1																	166826910		2203	4300	6503	SO:0001583	missense	0			BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.902T>C	1.37:g.166826910A>G	ENSP00000356848:p.Ile301Thr		A8K4J9	Missense_Mutation	SNP	superfamily_Histone-fold	p.I301T	ENST00000367874.4	37	c.902	CCDS1255.1	1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.294910	0.40594	.	.	ENSG00000152382	ENST00000367874	T	0.46063	0.88	4.53	4.53	0.55603	.	0.104827	0.64402	D	0.000004	T	0.12518	0.0304	N	0.14661	0.345	0.37440	D	0.914383	B	0.10296	0.003	B	0.04013	0.001	T	0.06734	-1.0810	9	0.31617	T	0.26	-4.6564	12.1377	0.53981	1.0:0.0:0.0:0.0	.	301	Q96BN2	TADA1_HUMAN	T	301	ENSP00000356848:I301T	ENSP00000356848:I301T	I	-	2	0	TADA1	165093534	1.000000	0.71417	0.996000	0.52242	0.881000	0.50899	8.590000	0.90821	2.012000	0.59069	0.533000	0.62120	ATT	TADA1	-	NULL	ENSG00000152382		0.443	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA1	HGNC	protein_coding	OTTHUMT00000082881.1	-	0.00	68	0	A	NM_053053		166826910	-1	tier1	-	no_errors	ENST00000367874	ensembl	human	known	74_37	missense	16.28	72	14	SNP	1.000	G
TADA3	10474	genome.wustl.edu	37	3	9825804	9825804	+	Silent	SNP	G	G	A	rs371188578		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:9825804G>A	ENST00000301964.2	-	8	1572	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	TADA3_ENST00000343450.2_Silent_p.S338S|TADA3_ENST00000440161.1_Silent_p.S338S	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	338					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CCTCATCCTCGGAGTCCTCTG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		16955	0.0		0.001	False		,,,				2504	0.0																0								G	,	1,4405	2.1+/-5.4	0,1,2202	60.0	52.0	55.0		1014,1014	-12.3	0.1	3		55	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TADA3	NM_006354.2,NM_133480.1	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	338/433,338/370	9825804	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.1014C>T	3.37:g.9825804G>A			Q6FI83|Q9UFS2	Silent	SNP	pfam_Histone_AcTrfase_su3	p.S338	ENST00000301964.2	37	c.1014	CCDS2583.1	3																																																																																			TADA3	-	pfam_Histone_AcTrfase_su3	ENSG00000171148		0.602	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA3	HGNC	protein_coding	OTTHUMT00000250236.1	-	0.00	34	0	G			9825804	-1	tier1	-	no_errors	ENST00000301964	ensembl	human	known	74_37	silent	45.00	22	18	SNP	0.167	A
TAF1C	9013	genome.wustl.edu	37	16	84214674	84214674	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:84214674delG	ENST00000567759.1	-	11	1543	c.1361delC	c.(1360-1362)cctfs	p.P454fs	TAF1C_ENST00000566732.1_Frame_Shift_Del_p.P428fs|TAF1C_ENST00000378541.4_Frame_Shift_Del_p.P454fs|TAF1C_ENST00000570117.1_Frame_Shift_Del_p.P122fs|TAF1C_ENST00000541676.1_Frame_Shift_Del_p.P361fs|TAF1C_ENST00000341690.6_Frame_Shift_Del_p.P361fs	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	454					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						ATGAAGAGTAGGGGGGAGGCA	0.592																																																	0									,	20,4244		9,2,2121	56.0	54.0	55.0		,	2.6	0.2	16		54	17,8237		7,3,4117	no	frameshift,frameshift	TAF1C	NM_139353.2,NM_005679.3	,	16,5,6238	A1A1,A1R,RR		0.206,0.469,0.2956	,	,	84214674	37,12481	2200	4300	6500	SO:0001589	frameshift_variant	0			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1361delC	16.37:g.84214674delG	ENSP00000455265:p.Pro454fs		B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Frame_Shift_Del	DEL	superfamily_WD40_repeat_dom	p.P454fs	ENST00000567759.1	37	c.1361	CCDS32496.1	16																																																																																			TAF1C	-	NULL	ENSG00000103168		0.592	TAF1C-001	KNOWN	basic|CCDS	protein_coding	TAF1C	HGNC	protein_coding	OTTHUMT00000433045.2		0.00	63	0	G	NM_139353		84214674	-1	tier1		no_errors	ENST00000378541	ensembl	human	known	74_37	frame_shift_del	30.77	45	20	DEL	0.870	-
TAF1L	138474	genome.wustl.edu	37	9	32630106	32630106	+	Silent	SNP	G	G	A	rs202147126		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:32630106G>A	ENST00000242310.4	-	1	5561	c.5472C>T	c.(5470-5472)caC>caT	p.H1824H		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1824			H -> Q (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.H1824Q(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCATTTTCCGTGCCCATCCT	0.493																																																	2	Substitution - Missense(2)	lung(2)											191.0	138.0	156.0					9																	32630106		2203	4300	6503	SO:0001819	synonymous_variant	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.5472C>T	9.37:g.32630106G>A			Q0VG57	Silent	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.H1824	ENST00000242310.4	37	c.5472	CCDS35003.1	9																																																																																			TAF1L	-	pirsf_TAF1_animal	ENSG00000122728		0.493	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	-	0.00	92	0	G			32630106	-1	tier1	rs202147126	no_errors	ENST00000242310	ensembl	human	known	74_37	silent	41.33	44	31	SNP	1.000	A
TAF4	6874	genome.wustl.edu	37	20	60582619	60582619	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:60582619A>T	ENST00000252996.4	-	6	1957	c.1958T>A	c.(1957-1959)cTt>cAt	p.L653H	TAF4_ENST00000609045.1_5'Flank	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	653	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GAAAGGCACAAGGTAAGGTTG	0.473																																																	0													187.0	191.0	190.0					20																	60582619		2203	4300	6503	SO:0001583	missense	0			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1958T>A	20.37:g.60582619A>T	ENSP00000252996:p.Leu653His		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.L653H	ENST00000252996.4	37	c.1958	CCDS33500.1	20	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537287	0.85812	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.59772	0.24;0.24	5.5	5.5	0.81552	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.79857	0.4518	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83576	0.0115	10	0.59425	D	0.04	-11.569	15.5753	0.76373	1.0:0.0:0.0:0.0	.	653	O00268	TAF4_HUMAN	H	653;517	ENSP00000252996:L653H;ENSP00000399091:L517H	ENSP00000252996:L653H	L	-	2	0	TAF4	60016014	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.043000	0.93799	2.078000	0.62432	0.533000	0.62120	CTT	TAF4	-	pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1	ENSG00000130699		0.473	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF4	HGNC	protein_coding	OTTHUMT00000079968.2	-	0.00	46	0	A	NM_003185		60582619	-1	tier1	-	no_errors	ENST00000252996	ensembl	human	known	74_37	missense	40.62	19	13	SNP	1.000	T
TAF6	6878	genome.wustl.edu	37	7	99709401	99709401	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:99709401G>A	ENST00000344095.4	-	9	1375	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000452041.1_Missense_Mutation_p.R284C|TAF6_ENST00000418432.2_Missense_Mutation_p.R208C|TAF6_ENST00000437822.2_Missense_Mutation_p.R321C|TAF6_ENST00000453269.2_Missense_Mutation_p.R284C|TAF6_ENST00000472509.1_Missense_Mutation_p.R341C	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	284					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCACCATACGCATCAGGTAG	0.572																																																	0													146.0	131.0	136.0					7																	99709401		2203	4300	6503	SO:0001583	missense	0				CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.850C>T	7.37:g.99709401G>A	ENSP00000344537:p.Arg284Cys		A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd	p.R284C	ENST00000344095.4	37	c.850	CCDS5686.1	7	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087591	0.76642	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	5.57	4.61	0.57282	.	0.056232	0.64402	D	0.000001	D	0.82688	0.5091	M	0.85462	2.755	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.87578	0.996;0.998;0.996;0.976;0.996	D	0.84694	0.0724	10	0.56958	D	0.05	-17.2318	14.7517	0.69530	0.0:0.0:0.8456:0.1544	.	321;284;274;284;208	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	C	284;341;284;284;208;321	ENSP00000389575:R284C;ENSP00000419760:R341C;ENSP00000416396:R284C;ENSP00000344537:R284C;ENSP00000407980:R208C;ENSP00000399982:R321C	ENSP00000344537:R284C	R	-	1	0	TAF6	99547337	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.433000	0.52834	2.618000	0.88619	0.561000	0.74099	CGT	TAF6	-	superfamily_ARM-type_fold	ENSG00000106290		0.572	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6	HGNC	protein_coding	OTTHUMT00000337024.2	-	0.00	69	0	G	NM_005641		99709401	-1	tier1	-	no_errors	ENST00000344095	ensembl	human	known	74_37	missense	28.57	55	22	SNP	1.000	A
TAGLN3	29114	genome.wustl.edu	37	3	111719763	111719763	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:111719763G>A	ENST00000393917.2	+	3	877	c.325G>A	c.(325-327)Gac>Aac	p.D109N	TAGLN3_ENST00000486460.1_Missense_Mutation_p.D25N|TAGLN3_ENST00000273368.4_Missense_Mutation_p.D109N|TAGLN3_ENST00000455401.2_Missense_Mutation_p.D109N|TAGLN3_ENST00000478951.1_Missense_Mutation_p.D109N	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	109	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						CAGAACCACCGACATCTTTCA	0.483																																																	0													136.0	139.0	138.0					3																	111719763		2203	4300	6503	SO:0001583	missense	0			AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.325G>A	3.37:g.111719763G>A	ENSP00000377494:p.Asp109Asn		D3DN64|Q96A74	Missense_Mutation	SNP	pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,prints_SM22_calponin,pfscan_CH-domain,pfscan_Calponin_repeat	p.D109N	ENST00000393917.2	37	c.325	CCDS33816.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.200879	0.94997	.	.	ENSG00000144834	ENST00000478951;ENST00000393917;ENST00000273368;ENST00000540095;ENST00000455401;ENST00000486460;ENST00000469385	T;T;T;T;T;D	0.94758	0.24;0.24;0.24;0.24;0.85;-3.51	5.85	5.85	0.93711	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97188	0.9081	M	0.85299	2.745	0.80722	D	1	D	0.53885	0.963	P	0.59825	0.864	D	0.97294	0.9926	10	0.66056	D	0.02	-11.3828	18.9384	0.92595	0.0:0.0:1.0:0.0	.	109	Q9UI15	TAGL3_HUMAN	N	109;109;109;109;109;25;49	ENSP00000419105:D109N;ENSP00000377494:D109N;ENSP00000273368:D109N;ENSP00000391160:D109N;ENSP00000417904:D25N;ENSP00000420346:D49N	ENSP00000273368:D109N	D	+	1	0	TAGLN3	113202453	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	9.476000	0.97823	2.770000	0.95276	0.650000	0.86243	GAC	TAGLN3	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,prints_SM22_calponin,pfscan_CH-domain	ENSG00000144834		0.483	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TAGLN3	HGNC	protein_coding	OTTHUMT00000354331.1	-	0.00	145	0	G	NM_013259		111719763	+1	tier1	-	no_errors	ENST00000273368	ensembl	human	known	74_37	missense	38.74	68	43	SNP	1.000	A
TAGLN3	29114	genome.wustl.edu	37	3	111730651	111730651	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:111730651G>T	ENST00000393917.2	+	4	949	c.397G>T	c.(397-399)Ggc>Tgc	p.G133C	TAGLN3_ENST00000486460.1_Missense_Mutation_p.G49C|TAGLN3_ENST00000273368.4_Missense_Mutation_p.G133C|TAGLN3_ENST00000455401.2_Missense_Mutation_p.G133C|TAGLN3_ENST00000478951.1_Missense_Mutation_p.G133C	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	133	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				central nervous system development (GO:0007417)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				endometrium(2)|lung(5)|urinary_tract(1)	8						GATGGCTTTAGGCAGCGTTGC	0.552																																																	0													107.0	95.0	99.0					3																	111730651		2203	4300	6503	SO:0001583	missense	0			AF303058	CCDS33816.1	3q13.2	2008-02-05			ENSG00000144834	ENSG00000144834			29868	protein-coding gene	gene with protein product		607953				8015377, 11238712	Standard	NM_013259		Approved	NP25, NP22	uc003dyo.3	Q9UI15	OTTHUMG00000159281	ENST00000393917.2:c.397G>T	3.37:g.111730651G>T	ENSP00000377494:p.Gly133Cys		D3DN64|Q96A74	Missense_Mutation	SNP	pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,prints_SM22_calponin,pfscan_CH-domain,pfscan_Calponin_repeat	p.G133C	ENST00000393917.2	37	c.397	CCDS33816.1	3	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880664	0.91740	.	.	ENSG00000144834	ENST00000478951;ENST00000393917;ENST00000273368;ENST00000540095;ENST00000455401;ENST00000486460	D;D;D;D;T	0.95069	-3.6;-3.6;-3.6;-3.6;0.87	5.8	5.8	0.92144	Calponin homology domain (4);	0.000000	0.85682	D	0.000000	D	0.98425	0.9476	H	0.97440	4.005	0.80722	D	1	D	0.61080	0.989	D	0.73708	0.981	D	0.99338	1.0911	10	0.87932	D	0	-13.3061	18.8218	0.92100	0.0:0.0:1.0:0.0	.	133	Q9UI15	TAGL3_HUMAN	C	133;133;133;133;133;49	ENSP00000419105:G133C;ENSP00000377494:G133C;ENSP00000273368:G133C;ENSP00000391160:G133C;ENSP00000417904:G49C	ENSP00000273368:G133C	G	+	1	0	TAGLN3	113213341	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	9.367000	0.97148	2.736000	0.93811	0.591000	0.81541	GGC	TAGLN3	-	pfam_CH-domain,superfamily_CH-domain,prints_SM22_calponin,pfscan_CH-domain	ENSG00000144834		0.552	TAGLN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TAGLN3	HGNC	protein_coding	OTTHUMT00000354331.1	-	0.00	65	0	G	NM_013259		111730651	+1	tier1	-	no_errors	ENST00000273368	ensembl	human	known	74_37	missense	26.98	46	17	SNP	1.000	T
TAOK1	57551	genome.wustl.edu	37	17	27778671	27778671	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:27778671C>T	ENST00000261716.3	+	2	624	c.105C>T	c.(103-105)ggC>ggT	p.G35G	TAOK1_ENST00000536202.1_Silent_p.G35G	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	35	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GAGAAATTGGCCATGGAAGCT	0.418																																																	0													135.0	130.0	132.0					17																	27778671		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.105C>T	17.37:g.27778671C>T			A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G35	ENST00000261716.3	37	c.105	CCDS32601.1	17																																																																																			TAOK1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000160551		0.418	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1	-	0.00	44	0	C	NM_020791		27778671	+1	tier1	-	no_errors	ENST00000261716	ensembl	human	known	74_37	silent	18.60	35	8	SNP	1.000	T
TAOK2	9344	genome.wustl.edu	37	16	29989217	29989217	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:29989217G>A	ENST00000308893.4	+	2	1167	c.124G>A	c.(124-126)Gta>Ata	p.V42I	TAOK2_ENST00000543033.1_Missense_Mutation_p.V42I|TAOK2_ENST00000279394.3_Missense_Mutation_p.V42I|TAOK2_ENST00000416441.2_5'Flank	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	42	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTTTGGAGCCGTATACTTTGT	0.532																																																	0													80.0	87.0	84.0					16																	29989217		2197	4300	6497	SO:0001583	missense	0			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.124G>A	16.37:g.29989217G>A	ENSP00000310094:p.Val42Ile		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V42I	ENST00000308893.4	37	c.124	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153353	0.78114	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.59906	0.23;0.23;0.23	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.62365	0.991;0.966;0.972;0.986	P;P;P;P	0.59889	0.865;0.527;0.523;0.742	D	0.84765	0.0764	9	.	.	.	.	18.1978	0.89829	0.0:0.0:1.0:0.0	.	226;42;42;42	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	I	42	ENSP00000310094:V42I;ENSP00000440336:V42I;ENSP00000279394:V42I	.	V	+	1	0	TAOK2	29896718	1.000000	0.71417	0.996000	0.52242	0.565000	0.35776	9.349000	0.97066	2.668000	0.90789	0.655000	0.94253	GTA	TAOK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000149930		0.532	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	-	0.00	64	0	G	NM_016151		29989217	+1	tier1	-	no_errors	ENST00000308893	ensembl	human	known	74_37	missense	41.27	37	26	SNP	1.000	A
TAOK2	9344	genome.wustl.edu	37	16	29997584	29997584	+	Splice_Site	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:29997584A>G	ENST00000308893.4	+	16	3035		c.e16-1		TAOK2_ENST00000543033.1_Splice_Site|TAOK2_ENST00000279394.3_Splice_Site|TAOK2_ENST00000416441.2_Splice_Site	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2						actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTTCTGCCTCAGGACCTGAAC	0.627																																																	0													78.0	78.0	78.0					16																	29997584		2197	4300	6497	SO:0001630	splice_region_variant	0			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1993-1A>G	16.37:g.29997584A>G			A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Splice_Site	SNP	-	e15-2	ENST00000308893.4	37	c.1993-2	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	A	14.81	2.646605	0.47258	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1735	0.65525	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TAOK2	29905085	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	9.308000	0.96247	2.013000	0.59113	0.456000	0.33151	.	TAOK2	-	-	ENSG00000149930		0.627	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	-	0.00	72	0	A	NM_016151	Intron	29997584	+1	tier1	-	no_errors	ENST00000308893	ensembl	human	known	74_37	splice_site	32.61	31	15	SNP	1.000	G
TAP1	6890	genome.wustl.edu	37	6	32818895	32818895	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:32818895C>T	ENST00000354258.4	-	4	1217	c.1056G>A	c.(1054-1056)acG>acA	p.T352T	PSMB9_ENST00000395330.1_Intron|TAP1_ENST00000425148.2_Silent_p.T91T	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	352	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	TCAGGGTGGACGTGTCCTCTG	0.502																																																	0													123.0	87.0	100.0					6																	32818895		1511	2709	4220	SO:0001819	synonymous_variant	0				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.1056G>A	6.37:g.32818895C>T			Q16149|Q96CP4	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B2,tigrfam_Ag_transporter2	p.T352	ENST00000354258.4	37	c.1056	CCDS4758.1	6																																																																																			TAP1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Ag_transporter2	ENSG00000168394		0.502	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAP1	HGNC	protein_coding	OTTHUMT00000076087.2	-	0.00	39	0	C	NM_000593		32818895	-1	tier1	-	no_errors	ENST00000354258	ensembl	human	known	74_37	silent	88.89	5	40	SNP	0.000	T
TARDBP	23435	genome.wustl.edu	37	1	11084334	11084334	+	IGR	DEL	T	T	-	rs566657331	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:11084334delT	ENST00000240185.3	+	0	2748				TARDBP_ENST00000480464.1_3'UTR	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein						3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AAAGTGAAAATTTTTTTTTTT	0.383																																																	0																																										SO:0001628	intergenic_variant	0			U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120		1.37:g.11084334delT			A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	RNA	DEL	-	NULL	ENST00000240185.3	37	NULL	CCDS122.1	1																																																																																			TARDBP	-	-	ENSG00000120948		0.383	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARDBP	HGNC	protein_coding	OTTHUMT00000006063.1		0.00	12	0	T	NM_007375		11084334	+1	tier1		no_errors	ENST00000480464	ensembl	human	known	74_37	rna	56.52	10	13	DEL	0.289	-
TARBP1	6894	genome.wustl.edu	37	1	234529164	234529164	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:234529164C>T	ENST00000040877.1	-	28	4503	c.4504G>A	c.(4504-4506)Gac>Aac	p.D1502N	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1502					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AACTGTTTGTCGCTGATACAC	0.468																																																	0													123.0	112.0	115.0					1																	234529164		2203	4300	6503	SO:0001583	missense	0				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4504G>A	1.37:g.234529164C>T	ENSP00000040877:p.Asp1502Asn		Q9H581	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.D1502N	ENST00000040877.1	37	c.4504	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041188	0.75732	.	.	ENSG00000059588	ENST00000040877	T	0.39592	1.07	5.44	5.44	0.79542	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.53507	-0.8429	10	0.42905	T	0.14	-20.5257	19.4445	0.94841	0.0:1.0:0.0:0.0	.	1502	Q13395	TARB1_HUMAN	N	1502	ENSP00000040877:D1502N	ENSP00000040877:D1502N	D	-	1	0	TARBP1	232595787	1.000000	0.71417	0.390000	0.26220	0.174000	0.22865	7.320000	0.79064	2.828000	0.97474	0.650000	0.86243	GAC	TARBP1	-	pfam_SpoU_MeTrfase	ENSG00000059588		0.468	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	-	0.00	65	0	C	NM_005646		234529164	-1	tier1	-	no_errors	ENST00000040877	ensembl	human	novel	74_37	missense	34.00	33	17	SNP	1.000	T
TARSL2	123283	genome.wustl.edu	37	15	102226169	102226169	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:102226169C>T	ENST00000335968.3	-	11	1633	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	snoU13_ENST00000458877.1_RNA	NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	473					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AACATGTTCTCGCTGTAATGC	0.468																																																	0													155.0	143.0	147.0					15																	102226169		2203	4300	6503	SO:0001583	missense	0			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.1417G>A	15.37:g.102226169C>T	ENSP00000338093:p.Glu473Lys		B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.E473K	ENST00000335968.3	37	c.1417	CCDS10394.1	15	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473118	0.63737	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	T;T	0.68624	-0.34;-0.34	5.82	3.91	0.45181	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.256146	0.43919	D	0.000518	T	0.64023	0.2561	M	0.85777	2.775	0.46167	D	0.998909	B;P	0.41910	0.14;0.764	B;B	0.32762	0.152;0.095	T	0.67063	-0.5765	10	0.72032	D	0.01	-12.6706	9.0268	0.36234	0.0:0.7678:0.1496:0.0825	.	473;378	A2RTX5;A2RTX5-2	SYTC2_HUMAN;.	K	473;378;473	ENSP00000338093:E473K;ENSP00000439899:E473K	ENSP00000329291:E378K	E	-	1	0	TARSL2	100043692	1.000000	0.71417	0.796000	0.32109	0.948000	0.59901	3.888000	0.56204	0.772000	0.33382	0.655000	0.94253	GAG	TARSL2	-	pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa	ENSG00000185418		0.468	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARSL2	HGNC	protein_coding	OTTHUMT00000313619.3	-	0.00	50	0	C	NM_152334		102226169	-1	tier1	-	no_errors	ENST00000335968	ensembl	human	known	74_37	missense	37.29	37	22	SNP	1.000	T
TAS1R1	80835	genome.wustl.edu	37	1	6639284	6639284	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:6639284G>T	ENST00000333172.6	+	6	2359	c.2166G>T	c.(2164-2166)gaG>gaT	p.E722D	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Missense_Mutation_p.E468D|ZBTB48_ENST00000377674.4_5'Flank	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	722					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		AGTGCACAGAGACCAACTCCC	0.562																																																	0													153.0	125.0	134.0					1																	6639284		2203	4300	6503	SO:0001583	missense	0				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2166G>T	1.37:g.6639284G>T	ENSP00000331867:p.Glu722Asp		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.E722D	ENST00000333172.6	37	c.2166	CCDS81.1	1	.	.	.	.	.	.	.	.	.	.	G	2.602	-0.292767	0.05568	.	.	ENSG00000173662	ENST00000333172;ENST00000351136	D;D	0.88354	-2.37;-2.37	5.18	3.32	0.38043	GPCR, family 3, C-terminal (2);	0.462443	0.24458	N	0.038342	D	0.89015	0.6595	M	0.76838	2.35	0.22266	N	0.999241	P;P	0.46859	0.885;0.673	P;B	0.48189	0.57;0.324	T	0.80402	-0.1397	10	0.38643	T	0.18	.	6.4025	0.21646	0.1609:0.1499:0.6892:0.0	.	468;722	Q7RTX1-2;Q7RTX1	.;TS1R1_HUMAN	D	722;468	ENSP00000331867:E722D;ENSP00000312558:E468D	ENSP00000331867:E722D	E	+	3	2	TAS1R1	6561871	0.977000	0.34250	0.064000	0.19789	0.068000	0.16541	0.798000	0.27014	0.580000	0.29522	-0.229000	0.12294	GAG	TAS1R1	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000173662		0.562	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R1	HGNC	protein_coding	OTTHUMT00000004211.1	-	0.00	60	0	G			6639284	+1	tier1	-	no_errors	ENST00000333172	ensembl	human	known	74_37	missense	11.54	46	6	SNP	0.122	T
TAS2R14	50840	genome.wustl.edu	37	12	11230385	11230385	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:11230385C>T	ENST00000381852.4	-	2	152				TAS2R64P_ENST00000534866.1_RNA|PRR4_ENST00000536668.1_Intron			Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14						detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						TTTGTCCACACACTGTCATCC	0.388																																																	0																																										SO:0001627	intron_variant	0			AF227138	CCDS8637.1	12p13	2012-08-22			ENSG00000212127	ENSG00000212127		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14920	protein-coding gene	gene with protein product		604790				10761934, 10766242	Standard	NM_023922		Approved	T2R14, TRB1	uc010shi.2	Q9NYV8	OTTHUMG00000162720	ENST00000381852.4:c.1511-30598G>A	12.37:g.11230385C>T			Q645X3	RNA	SNP	-	NULL	ENST00000381852.4	37	NULL		12																																																																																			TAS2R64P	-	-	ENSG00000256274		0.388	TAS2R14-002	KNOWN	basic	processed_transcript	TAS2R64P	HGNC	protein_coding	OTTHUMT00000402305.1	-	0.00	76	0	C	NM_023922		11230385	-1	tier1	-	no_errors	ENST00000534866	ensembl	human	known	74_37	rna	50.59	84	86	SNP	0.000	T
TBATA	219793	genome.wustl.edu	37	10	72541636	72541636	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:72541636G>T	ENST00000299290.1	-	4	587	c.198C>A	c.(196-198)acC>acA	p.T66T	TBATA_ENST00000456372.2_Silent_p.T66T|TBATA_ENST00000545575.1_Silent_p.T56T	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated	66					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											CAAAGCAGTAGGTGCCAGGGG	0.622																																																	0													124.0	112.0	116.0					10																	72541636		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.198C>A	10.37:g.72541636G>T			A4QPA8|B2RPQ2|Q5T4G2	Silent	SNP	NULL	p.T66	ENST00000299290.1	37	c.198	CCDS7308.1	10																																																																																			TBATA	-	NULL	ENSG00000166220		0.622	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBATA	HGNC	protein_coding	OTTHUMT00000048519.1	-	0.00	34	0	G	NM_152710		72541636	-1	tier1	-	no_errors	ENST00000299290	ensembl	human	known	74_37	silent	59.38	13	19	SNP	1.000	T
TBC1D1	23216	genome.wustl.edu	37	4	38134424	38134427	+	Intron	DEL	TTTT	TTTT	-	rs71190957|rs61642658		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:38134424_38134427delTTTT	ENST00000261439.4	+	19	3487				TBC1D1_ENST00000407365.1_Intron|TBC1D1_ENST00000508802.1_Intron	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AAATGAGAGGTTTTTTTTTTTTTT	0.27																																																	0																																										SO:0001627	intron_variant	0			AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.3133-278TTTT>-	4.37:g.38134432_38134435delTTTT			B7Z3D9|E9PGH8|Q96K82|Q9UPP4	RNA	DEL	-	NULL	ENST00000261439.4	37	NULL	CCDS33972.1	4																																																																																			TBC1D1	-	-	ENSG00000065882		0.270	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2		0.00	59	0	TTTT	NM_015173		38134427	+1	tier1		no_errors	ENST00000405444	ensembl	human	known	74_37	rna	21.95	64	18	DEL	0.018:0.027:0.074:0.101	-
TBC1D31	93594	genome.wustl.edu	37	8	124153106	124153106	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:124153106G>T	ENST00000287380.1	+	18	2695	c.2605G>T	c.(2605-2607)Gaa>Taa	p.E869*	TBC1D31_ENST00000518805.1_Nonsense_Mutation_p.E423*|TBC1D31_ENST00000522420.1_Nonsense_Mutation_p.E764*|TBC1D31_ENST00000327098.5_Nonsense_Mutation_p.E838*|TBC1D31_ENST00000309336.3_Nonsense_Mutation_p.E869*|TBC1D31_ENST00000521676.1_Nonsense_Mutation_p.E746*|TBC1D31_ENST00000378080.2_3'UTR	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	869						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TAAGCTGATAGAAGCAGGTGA	0.388																																																	0													92.0	96.0	95.0					8																	124153106		2203	4300	6503	SO:0001587	stop_gained	0			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2605G>T	8.37:g.124153106G>T	ENSP00000287380:p.Glu869*		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.E869*	ENST00000287380.1	37	c.2605	CCDS6338.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.738436	0.96865	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000518805	.	.	.	5.76	5.76	0.90799	.	0.486343	0.22567	N	0.058383	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.6752	19.5608	0.95371	0.0:0.0:1.0:0.0	.	.	.	.	X	869;869;838;764;746;423	.	ENSP00000287380:E869X	E	+	1	0	WDR67	124222287	1.000000	0.71417	0.094000	0.20943	0.007000	0.05969	4.599000	0.61076	2.721000	0.93114	0.591000	0.81541	GAA	TBC1D31	-	NULL	ENSG00000156787		0.388	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D31	HGNC	protein_coding	OTTHUMT00000381721.1	-	0.00	44	0	G	NM_145647		124153106	+1	tier1	-	no_errors	ENST00000287380	ensembl	human	known	74_37	nonsense	6.67	70	5	SNP	0.831	T
TBC1D31	93594	genome.wustl.edu	37	8	124162324	124162324	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:124162324C>G	ENST00000287380.1	+	21	3113	c.3023C>G	c.(3022-3024)aCc>aGc	p.T1008S	TBC1D31_ENST00000518805.1_Missense_Mutation_p.T562S|TBC1D31_ENST00000522420.1_Missense_Mutation_p.T903S|TBC1D31_ENST00000327098.5_Missense_Mutation_p.T912S|TBC1D31_ENST00000309336.3_Missense_Mutation_p.T943S|TBC1D31_ENST00000521676.1_Missense_Mutation_p.T885S|TBC1D31_ENST00000378080.2_3'UTR	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	1008						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTGCCTAGAACCTCACAATTA	0.358																																																	0													92.0	85.0	88.0					8																	124162324		2203	4300	6503	SO:0001583	missense	0			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.3023C>G	8.37:g.124162324C>G	ENSP00000287380:p.Thr1008Ser		B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.T1008S	ENST00000287380.1	37	c.3023	CCDS6338.1	8	.	.	.	.	.	.	.	.	.	.	C	5.146	0.212452	0.09757	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000518805	T;T;T;T;T;T	0.75154	-0.18;-0.19;-0.21;-0.64;-0.91;1.03	4.41	4.41	0.53225	.	0.905030	0.09528	N	0.789962	T	0.60051	0.2239	N	0.19112	0.55	0.24662	N	0.99347	B;B;B;B	0.18166	0.003;0.026;0.005;0.009	B;B;B;B	0.13407	0.001;0.009;0.004;0.007	T	0.43523	-0.9386	10	0.26408	T	0.33	0.1082	10.5676	0.45181	0.193:0.807:0.0:0.0	.	912;943;903;1008	B7ZL19;Q96DN5-2;E7ERK7;Q96DN5	.;.;.;WDR67_HUMAN	S	1008;943;912;903;885;562	ENSP00000287380:T1008S;ENSP00000308358:T943S;ENSP00000312701:T912S;ENSP00000429334:T903S;ENSP00000430628:T885S;ENSP00000429494:T562S	ENSP00000287380:T1008S	T	+	2	0	WDR67	124231505	0.085000	0.21516	0.153000	0.22517	0.009000	0.06853	1.314000	0.33597	2.408000	0.81797	0.561000	0.74099	ACC	TBC1D31	-	NULL	ENSG00000156787		0.358	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D31	HGNC	protein_coding	OTTHUMT00000381721.1		0.00	34	0	C	NM_145647		124162324	+1			no_errors	ENST00000287380	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.113	G
TBC1D32	221322	genome.wustl.edu	37	6	121412157	121412157	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:121412157delA	ENST00000398212.2	-	31	3545	c.3496delT	c.(3496-3498)tggfs	p.W1166fs	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Frame_Shift_Del_p.W1207fs	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1166	Rab-GAP TBC.				cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										AAGTAATTCCAAAAACACTGG	0.279																																																	0													106.0	108.0	108.0					6																	121412157		1815	4063	5878	SO:0001589	frameshift_variant	0			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3496delT	6.37:g.121412157delA	ENSP00000381270:p.Trp1166fs		Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Frame_Shift_Del	DEL	superfamily_Rab-GTPase-TBC_dom	p.W1207fs	ENST00000398212.2	37	c.3619	CCDS43501.1	6																																																																																			TBC1D32	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000146350		0.279	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TBC1D32	HGNC	protein_coding	OTTHUMT00000380937.2		0.00	35	0	A	NM_152730		121412157	-1	tier1		no_errors	ENST00000275159	ensembl	human	putative	74_37	frame_shift_del	37.50	20	12	DEL	1.000	-
TBC1D3P2	440452	genome.wustl.edu	37	17	60344514	60344514	+	RNA	SNP	A	A	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:60344514A>C	ENST00000581291.1	-	0	990									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						CTTAAAGGCGATTTTGTTATC	0.602																																																	0																																												0					17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60344514A>C				RNA	SNP	-	NULL	ENST00000581291.1	37	NULL		17																																																																																			TBC1D3P2	-	-	ENSG00000188755		0.602	TBC1D3P2-002	KNOWN	basic	processed_transcript	TBC1D3P2	HGNC	pseudogene	OTTHUMT00000445021.1	-	0.00	333	0	A	NR_027486		60344514	-1	tier1	-	no_errors	ENST00000339120	ensembl	human	known	74_37	rna	39.47	184	120	SNP	0.980	C
TBCK	93627	genome.wustl.edu	37	4	107156505	107156505	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:107156505delT	ENST00000273980.5	-	16	1817	c.1370delA	c.(1369-1371)aacfs	p.N457fs	TBCK_ENST00000394708.2_Frame_Shift_Del_p.N457fs|TBCK_ENST00000361687.4_Frame_Shift_Del_p.N394fs|TBCK_ENST00000432496.2_Frame_Shift_Del_p.N457fs|TBCK_ENST00000394706.3_Frame_Shift_Del_p.N418fs					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CCAGATTTGGTTTTTTTTATA	0.363																																																	0													69.0	61.0	63.0					4																	107156505		2203	4299	6502	SO:0001589	frameshift_variant	0				CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1370delA	4.37:g.107156505delT	ENSP00000273980:p.Asn457fs			Frame_Shift_Del	DEL	pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_dom,pfscan_Rhodanese-like_dom	p.N457fs	ENST00000273980.5	37	c.1370	CCDS54788.1	4																																																																																			TBCK	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000145348		0.363	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCK	HGNC	protein_coding	OTTHUMT00000253953.4		0.00	49	0	T	NM_033115		107156505	-1	tier1		no_errors	ENST00000273980	ensembl	human	known	74_37	frame_shift_del	37.88	41	25	DEL	1.000	-
TBP	6908	genome.wustl.edu	37	6	170881319	170881319	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:170881319A>G	ENST00000392092.2	+	8	1265	c.986A>G	c.(985-987)tAc>tGc	p.Y329C	TBP_ENST00000540980.1_Missense_Mutation_p.Y309C|TBP_ENST00000230354.6_Missense_Mutation_p.Y329C	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	329					cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		GAAAACATCTACCCTATTCTA	0.388																																																	0													114.0	107.0	109.0					6																	170881319		2203	4300	6503	SO:0001583	missense	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.986A>G	6.37:g.170881319A>G	ENSP00000375942:p.Tyr329Cys		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Missense_Mutation	SNP	pfam_TBP,prints_TBP	p.Y329C	ENST00000392092.2	37	c.986	CCDS5315.1	6	.	.	.	.	.	.	.	.	.	.	A	19.63	3.862716	0.71949	.	.	ENSG00000112592	ENST00000392092;ENST00000540980;ENST00000230354;ENST00000392091	.	.	.	5.95	5.95	0.96441	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85389	0.1124	9	0.87932	D	0	-6.3448	16.4237	0.83790	1.0:0.0:0.0:0.0	.	329	P20226	TBP_HUMAN	C	329;309;329;306	.	ENSP00000230354:Y329C	Y	+	2	0	TBP	170723244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.798000	0.91888	2.279000	0.76181	0.533000	0.62120	TAC	TBP	-	pfam_TBP	ENSG00000112592		0.388	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	-	0.00	16	0	A	NM_003194		170881319	+1	tier1	-	no_errors	ENST00000230354	ensembl	human	known	74_37	missense	36.36	21	12	SNP	1.000	G
TBRG1	84897	genome.wustl.edu	37	11	124502084	124502084	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:124502084C>T	ENST00000441174.3	+	9	1390	c.1186C>T	c.(1186-1188)Cag>Tag	p.Q396*	TBRG1_ENST00000375005.4_Nonsense_Mutation_p.Q245*|TBRG1_ENST00000438907.2_3'UTR	NM_032811.2	NP_116200.2	Q3YBR2	TBRG1_HUMAN	transforming growth factor beta regulator 1	396					cell cycle arrest (GO:0007050)|DNA replication (GO:0006260)|negative regulation of cell proliferation (GO:0008285)|nucleolus to nucleoplasm transport (GO:0032066)|protein stabilization (GO:0050821)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				kidney(1)|prostate(1)	2	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0218)		TACTCACCTGCAGCACTTGAA	0.473																																																	0													151.0	135.0	141.0					11																	124502084		2201	4299	6500	SO:0001587	stop_gained	0			AK074140	CCDS8448.2	11q24.2	2008-02-05			ENSG00000154144	ENSG00000154144			29551	protein-coding gene	gene with protein product	"""nuclear interactor of ARF and MDM2"""	610614				7654366, 17110379	Standard	NM_032811		Approved	FLJ14621, TB-5, NIAM	uc001qak.4	Q3YBR2	OTTHUMG00000153024	ENST00000441174.3:c.1186C>T	11.37:g.124502084C>T	ENSP00000409016:p.Gln396*		Q53GJ5|Q66ZJ6|Q69YS7|Q8TCS4|Q8TEI4|Q96SV0	Nonsense_Mutation	SNP	pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C	p.Q396*	ENST00000441174.3	37	c.1186	CCDS8448.2	11	.	.	.	.	.	.	.	.	.	.	C	39	7.764511	0.98477	.	.	ENSG00000154144	ENST00000441174;ENST00000375005	.	.	.	5.69	4.75	0.60458	.	0.090744	0.46758	D	0.000272	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-6.8205	12.1362	0.53972	0.0:0.7788:0.2212:0.0	.	.	.	.	X	396;245	.	ENSP00000364144:Q245X	Q	+	1	0	TBRG1	124007294	0.827000	0.29292	0.981000	0.43875	0.940000	0.58332	0.404000	0.20999	1.298000	0.44778	0.655000	0.94253	CAG	TBRG1	-	NULL	ENSG00000154144		0.473	TBRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG1	HGNC	protein_coding	OTTHUMT00000329057.2	-	0.00	71	0	C	NM_032811		124502084	+1	tier1	-	no_errors	ENST00000441174	ensembl	human	known	74_37	nonsense	33.33	57	29	SNP	1.000	T
TBRG4	9238	genome.wustl.edu	37	7	45144171	45144171	+	Silent	SNP	C	C	T	rs376659192		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:45144171C>T	ENST00000258770.3	-	4	994	c.873G>A	c.(871-873)acG>acA	p.T291T	TBRG4_ENST00000395655.4_Intron|TBRG4_ENST00000494076.1_Silent_p.T291T|SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000361278.3_Intron|SNORA5B_ENST00000363786.1_RNA|SNORA5C_ENST00000364902.1_RNA	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	291					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GCACATCTTTCGTCAGAGAGA	0.627																																																	0								C	,,	1,4405	2.1+/-5.4	0,1,2202	100.0	86.0	91.0		873,,	-11.4	0.0	7		91	0,8600		0,0,4300	no	coding-synonymous,intron,intron	TBRG4	NM_004749.2,NM_030900.2,NM_199122.1	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	291/632,,	45144171	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.873G>A	7.37:g.45144171C>T			A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Silent	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.T291	ENST00000258770.3	37	c.873	CCDS5501.1	7																																																																																			TBRG4	-	NULL	ENSG00000136270		0.627	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG4	HGNC	protein_coding	OTTHUMT00000251351.1	-	0.00	31	0	C	NM_030900		45144171	-1	tier1	-	no_errors	ENST00000258770	ensembl	human	known	74_37	silent	33.33	20	10	SNP	0.000	T
TBX2	6909	genome.wustl.edu	37	17	59479054	59479054	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:59479054delC	ENST00000240328.3	+	2	686	c.405delC	c.(403-405)ttcfs	p.F135fs	RP11-332H18.4_ENST00000592009.1_RNA|RP11-332H18.4_ENST00000591313.1_RNA|RP11-332H18.5_ENST00000585765.1_RNA|RP11-332H18.4_ENST00000589814.1_RNA|RP11-332H18.4_ENST00000590421.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	135					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						GGCGGATGTTCCCCCCCTTCA	0.562																																					GBM(3;187 253 11467 14965 23079)												0													42.0	40.0	41.0					17																	59479054		2203	4300	6503	SO:0001589	frameshift_variant	0			AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.405delC	17.37:g.59479054delC	ENSP00000240328:p.Phe135fs		Q16424|Q7Z647	Frame_Shift_Del	DEL	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.F138fs	ENST00000240328.3	37	c.405	CCDS11627.2	17																																																																																			TBX2	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	ENSG00000121068		0.562	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TBX2	HGNC	protein_coding	OTTHUMT00000346977.2		0.00	56	0	C	NM_005994		59479054	+1	tier1		no_errors	ENST00000240328	ensembl	human	novel	74_37	frame_shift_del	37.93	18	11	DEL	1.000	-
TBX2	6909	genome.wustl.edu	37	17	59485488	59485488	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:59485488C>T	ENST00000240328.3	+	7	2041	c.1760C>T	c.(1759-1761)gCc>gTc	p.A587V	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	587	Ala-rich.|Repression domain 1 (RD1).				aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						gccgcagccgcctcggctttg	0.672																																					GBM(3;187 253 11467 14965 23079)												0													13.0	16.0	15.0					17																	59485488		2038	4045	6083	SO:0001583	missense	0			AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1760C>T	17.37:g.59485488C>T	ENSP00000240328:p.Ala587Val		Q16424|Q7Z647	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury	p.A587V	ENST00000240328.3	37	c.1760	CCDS11627.2	17	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014399	0.75161	.	.	ENSG00000121068	ENST00000240328	D	0.86865	-2.18	5.01	5.01	0.66863	.	0.050137	0.85682	D	0.000000	D	0.87916	0.6298	N	0.22421	0.69	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	D	0.84368	0.0542	10	0.16896	T	0.51	.	17.061	0.86547	0.0:1.0:0.0:0.0	.	587	Q13207	TBX2_HUMAN	V	587	ENSP00000240328:A587V	ENSP00000240328:A587V	A	+	2	0	TBX2	56840270	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.452000	0.66638	2.608000	0.88229	0.655000	0.94253	GCC	TBX2	-	NULL	ENSG00000121068		0.672	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TBX2	HGNC	protein_coding	OTTHUMT00000346977.2	-	0.00	41	0	C	NM_005994		59485488	+1	tier1	-	no_errors	ENST00000240328	ensembl	human	novel	74_37	missense	44.44	10	8	SNP	1.000	T
TBX5	6910	genome.wustl.edu	37	12	114793595	114793595	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:114793595delC	ENST00000310346.4	-	9	1965	c.1299delG	c.(1297-1299)gggfs	p.G433fs	TBX5_ENST00000405440.2_Frame_Shift_Del_p.G433fs|TBX5_ENST00000349716.5_Frame_Shift_Del_p.G383fs	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	433				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592). {ECO:0000305}.	apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGACCAGGGGCCCCGAGGTGA	0.657																																					NSCLC(152;1358 1980 4050 23898 40356)												0													24.0	25.0	25.0					12																	114793595		2203	4299	6502	SO:0001589	frameshift_variant	0			U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1299delG	12.37:g.114793595delC	ENSP00000309913:p.Gly433fs		A6ND77|O15301|Q96TB0|Q9Y4I2	Frame_Shift_Del	DEL	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.L435fs	ENST00000310346.4	37	c.1299	CCDS9173.1	12																																																																																			TBX5	-	NULL	ENSG00000089225		0.657	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TBX5	HGNC	protein_coding	OTTHUMT00000388297.1		0.00	149	0	C	NM_080717		114793595	-1	tier1		no_errors	ENST00000310346	ensembl	human	known	74_37	frame_shift_del	33.06	83	41	DEL	1.000	-
TBX3	6926	genome.wustl.edu	37	12	115117754	115117754	+	Missense_Mutation	SNP	G	G	T	rs537346634		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:115117754G>T	ENST00000257566.3	-	3	1070	c.681C>A	c.(679-681)caC>caA	p.H227Q	TBX3_ENST00000349155.2_Intron	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	227					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GCCACGTAGCGTGATCACTTG	0.443																																																	0													94.0	81.0	85.0					12																	115117754		2203	4300	6503	SO:0001583	missense	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.681C>A	12.37:g.115117754G>T	ENSP00000257566:p.His227Gln		Q8TB20|Q9UKF8	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.H227Q	ENST00000257566.3	37	c.681	CCDS9176.1	12	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610119	0.28712	.	.	ENSG00000135111	ENST00000257566;ENST00000361100	D	0.87334	-2.24	5.27	2.14	0.27477	p53-like transcription factor, DNA-binding (1);	0.635804	0.15428	N	0.262853	T	0.75510	0.3859	N	0.19112	0.55	0.26335	N	0.977456	B	0.13145	0.007	B	0.14023	0.01	T	0.62393	-0.6864	10	0.32370	T	0.25	.	8.2035	0.31438	0.0:0.2694:0.4561:0.2744	.	227	O15119	TBX3_HUMAN	Q	227	ENSP00000257566:H227Q	ENSP00000257566:H227Q	H	-	3	2	TBX3	113602137	0.964000	0.33143	1.000000	0.80357	0.997000	0.91878	0.554000	0.23407	0.668000	0.31126	0.655000	0.94253	CAC	TBX3	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000135111		0.443	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	-	0.00	54	0	G	NM_016569, NM_005996		115117754	-1	tier1	-	no_errors	ENST00000257566	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.992	T
TCEA1	6917	genome.wustl.edu	37	8	54900772	54900772	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:54900772C>T	ENST00000521604.2	-	5	771	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	TCEA1_ENST00000396401.3_Missense_Mutation_p.R102Q|TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000522635.1_Intron	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	123					DNA repair (GO:0006281)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of DNA-templated transcription, elongation (GO:0032784)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			ATAAGTATCTCGAGCATTTGT	0.453			T	PLAG1	salivary adenoma																																			Dom	yes		8	8q11.2	6917	"""transcription elongation factor A (SII), 1"""		E	0													104.0	102.0	103.0					8																	54900772		1933	4107	6040	SO:0001583	missense	0			X62585	CCDS47857.1, CCDS47858.1	8q11.2	2011-01-25			ENSG00000187735	ENSG00000187735		"""General transcription factors"""	11612	protein-coding gene	gene with protein product		601425		TCEA, GTF2S		8812434, 8112616	Standard	NM_006756		Approved	SII, TF2S, TFIIS	uc003xru.3	P23193	OTTHUMG00000164262	ENST00000521604.2:c.368G>A	8.37:g.54900772C>T	ENSP00000428426:p.Arg123Gln		A6NF25|A8K339|Q15563|Q6FG87	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII	p.R123Q	ENST00000521604.2	37	c.368	CCDS47858.1	8	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768392	0.49680	.	.	ENSG00000187735	ENST00000396401;ENST00000521604	.	.	.	5.63	4.7	0.59300	Transcription elongation factor S-II, central domain (1);	0.284730	0.34628	N	0.003801	T	0.40909	0.1136	N	0.14661	0.345	0.80722	D	1	B;B	0.18013	0.025;0.013	B;B	0.26969	0.075;0.004	T	0.19451	-1.0305	9	0.15499	T	0.54	-5.5623	15.2484	0.73523	0.0:0.7459:0.2541:0.0	.	102;123	P23193-2;P23193	.;TCEA1_HUMAN	Q	102;123	.	ENSP00000395483:R102Q	R	-	2	0	TCEA1	55063325	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.379000	0.59575	2.818000	0.97014	0.591000	0.81541	CGA	TCEA1	-	superfamily_TFIIS_cen_dom,pirsf_TF_IIS-rel,tigrfam_TFSII	ENSG00000187735		0.453	TCEA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEA1	HGNC	protein_coding	OTTHUMT00000377975.2	-	0.00	32	0	C	NM_006756		54900772	-1	tier1	-	no_errors	ENST00000521604	ensembl	human	known	74_37	missense	25.42	44	15	SNP	1.000	T
TCEAL5	340543	genome.wustl.edu	37	X	102529123	102529123	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:102529123delC	ENST00000372680.1	-	3	663	c.369delG	c.(367-369)gggfs	p.G123fs		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						AATCGTCCGTCCCCCTGTCGG	0.577																																																	0													140.0	126.0	131.0					X																	102529123		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS35356.1	Xq22.2	2014-03-21			ENSG00000204065	ENSG00000204065			22282	protein-coding gene	gene with protein product						16221301	Standard	NM_001012979		Approved	WEX4	uc004ejz.2	Q5H9L2	OTTHUMG00000022092	ENST00000372680.1:c.369delG	X.37:g.102529123delC	ENSP00000361765:p.Gly123fs		A2RUJ4	Frame_Shift_Del	DEL	pfam_TF_A-like/BEX-like	p.T124fs	ENST00000372680.1	37	c.369	CCDS35356.1	X																																																																																			TCEAL5	-	pfam_TF_A-like/BEX-like	ENSG00000204065		0.577	TCEAL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL5	HGNC	protein_coding	OTTHUMT00000057696.1		0.00	65	0	C	XM_291334		102529123	-1	tier1		no_errors	ENST00000372680	ensembl	human	known	74_37	frame_shift_del	69.84	19	44	DEL	0.000	-
TCEANC	170082	genome.wustl.edu	37	X	13682669	13682669	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:13682669delT	ENST00000380600.1	+	0	2129				TCEANC_ENST00000490617.1_3'UTR			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing						regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						tttgtttttgtttttTCCCCC	0.408																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.*986T>-	X.37:g.13682669delT			A6NI06|B2RDM3	RNA	DEL	-	NULL	ENST00000380600.1	37	NULL		X																																																																																			TCEANC	-	-	ENSG00000176896		0.408	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	TCEANC	HGNC	protein_coding	OTTHUMT00000055796.1		0.00	34	0	T	NM_152634		13682669	+1	tier1		no_errors	ENST00000490617	ensembl	human	known	74_37	rna	66.67	7	14	DEL	0.001	-
TCEAL6	158931	genome.wustl.edu	37	X	101396161	101396161	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:101396161C>T	ENST00000372774.3	-	3	392	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	TCEAL6_ENST00000372773.1_Missense_Mutation_p.R48Q	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	48	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						ctcagcctttcgctttccctc	0.547																																																	0													141.0	110.0	121.0					X																	101396161		2203	4300	6503	SO:0001583	missense	0			BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.143G>A	X.37:g.101396161C>T	ENSP00000361860:p.Arg48Gln		Q5H9J8	Missense_Mutation	SNP	pfam_TF_A-like/BEX-like	p.R48Q	ENST00000372774.3	37	c.143	CCDS43978.1	X	.	.	.	.	.	.	.	.	.	.	G	7.816	0.716737	0.15306	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.22945	1.93;1.93	2.65	-3.01	0.05463	.	1.775360	0.03982	N	0.293499	T	0.13072	0.0317	L	0.29908	0.895	0.09310	N	1	P	0.49090	0.919	B	0.31946	0.138	T	0.26503	-1.0101	10	0.38643	T	0.18	.	4.6492	0.12587	0.457:0.1777:0.3653:0.0	.	48	Q6IPX3-2	.	Q	48	ENSP00000361860:R48Q;ENSP00000361859:R48Q	ENSP00000361859:R48Q	R	-	2	0	TCEAL6	101282817	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.706000	0.05047	-0.909000	0.03852	-0.542000	0.04241	CGA	TCEAL6	-	pfam_TF_A-like/BEX-like	ENSG00000204071		0.547	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL6	HGNC	protein_coding	OTTHUMT00000057609.1	-	0.00	94	0	C	NM_001006938		101396161	-1	tier1	-	no_errors	ENST00000372773	ensembl	human	known	74_37	missense	81.33	14	61	SNP	0.000	T
TCERG1	10915	genome.wustl.edu	37	5	145886723	145886723	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:145886723delA	ENST00000296702.5	+	19	2901	c.2863delA	c.(2863-2865)aaafs	p.K957fs	TCERG1_ENST00000394421.2_Frame_Shift_Del_p.K936fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	957	FF 5.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCACTTACCAAAAAAAAGAG	0.373																																																	0													84.0	88.0	87.0					5																	145886723		2203	4300	6503	SO:0001589	frameshift_variant	0			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2863delA	5.37:g.145886723delA	ENSP00000296702:p.Lys957fs		Q2NKN2|Q59EA1	Frame_Shift_Del	DEL	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.K957fs	ENST00000296702.5	37	c.2863	CCDS4282.1	5																																																																																			TCERG1	-	pfam_FF_domain,superfamily_FF_domain,smart_FF_domain	ENSG00000113649		0.373	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1		0.00	32	0	A	NM_001040006		145886723	+1	tier1		no_errors	ENST00000296702	ensembl	human	known	74_37	frame_shift_del	50.00	19	19	DEL	1.000	-
TCF25	22980	genome.wustl.edu	37	16	89951020	89951020	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:89951020delA	ENST00000263346.8	+	3	441	c.385delA	c.(385-387)aaafs	p.K131fs	TCF25_ENST00000263347.7_5'Flank|TCF25_ENST00000563406.1_3'UTR	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	131					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CCGGAAGAAGAAAAAAAAACA	0.448																																																	0													89.0	76.0	80.0					16																	89951020		2198	4300	6498	SO:0001589	frameshift_variant	0			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.385delA	16.37:g.89951020delA	ENSP00000263346:p.Lys131fs		Q2MK75|Q9UPV3	Frame_Shift_Del	DEL	pfam_TCF25	p.K131fs	ENST00000263346.8	37	c.385	CCDS10987.1	16																																																																																			TCF25	-	NULL	ENSG00000141002		0.448	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2		0.00	46	0	A	NM_014972		89951020	+1	tier1		no_errors	ENST00000263346	ensembl	human	known	74_37	frame_shift_del	24.44	34	11	DEL	1.000	-
TCF7L2	6934	genome.wustl.edu	37	10	114925542	114925542	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:114925542C>T	ENST00000355995.4	+	15	2178	c.1671C>T	c.(1669-1671)ctC>ctT	p.L557L	TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000369397.4_Silent_p.L534L|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000536810.1_Silent_p.L540L|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000545257.1_Silent_p.L557L|TCF7L2_ENST00000543371.1_Silent_p.L540L|TCF7L2_ENST00000542695.1_Silent_p.L273L			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	557					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCCTCCTGCTCGCTGAGGCCA	0.687			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0													42.0	48.0	46.0					10																	114925542		2203	4299	6502	SO:0001819	synonymous_variant	0			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1671C>T	10.37:g.114925542C>T			B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.L557	ENST00000355995.4	37	c.1671		10																																																																																			TCF7L2	-	NULL	ENSG00000148737		0.687	TCF7L2-203	KNOWN	basic	protein_coding	TCF7L2	HGNC	protein_coding			0.00	16	0	C	NM_030756		114925542	+1			no_errors	ENST00000355995	ensembl	human	known	74_37	silent	37.50	10	6	SNP	0.981	T
TCHH	7062	genome.wustl.edu	37	1	152081168	152081168	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152081168G>A	ENST00000368804.1	-	2	4524	c.4525C>T	c.(4525-4527)Cgc>Tgc	p.R1509C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1509	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGACTGCGCAGTTCCTGT	0.572																																																	0													80.0	79.0	80.0					1																	152081168		1887	4115	6002	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4525C>T	1.37:g.152081168G>A	ENSP00000357794:p.Arg1509Cys		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R1509C	ENST00000368804.1	37	c.4525	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	-	6.354	0.433484	0.12045	.	.	ENSG00000159450	ENST00000368804	T	0.08282	3.11	3.06	-1.64	0.08318	.	.	.	.	.	T	0.00967	0.0032	N	0.08118	0	0.09310	N	1	P	0.48764	0.915	B	0.35182	0.197	T	0.46871	-0.9160	9	0.56958	D	0.05	.	4.6281	0.12488	0.3358:0.1629:0.5013:0.0	.	1509	Q07283	TRHY_HUMAN	C	1509	ENSP00000357794:R1509C	ENSP00000357794:R1509C	R	-	1	0	TCHH	150347792	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.272000	0.08560	-0.259000	0.09432	0.195000	0.17529	CGC	TCHH	-	NULL	ENSG00000159450		0.572	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0.00	85	0	G	NM_007113		152081168	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	26.47	75	27	SNP	0.001	A
TCHH	7062	genome.wustl.edu	37	1	152084242	152084242	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:152084242C>A	ENST00000368804.1	-	2	1450	c.1451G>T	c.(1450-1452)aGg>aTg	p.R484M		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	484	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGTTCGCGCCTctcctcctc	0.667																																																	0													64.0	71.0	69.0					1																	152084242		2133	4240	6373	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1451G>T	1.37:g.152084242C>A	ENSP00000357794:p.Arg484Met		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.R484M	ENST00000368804.1	37	c.1451	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	6.904	0.536405	0.13188	.	.	ENSG00000159450	ENST00000368804	T	0.06849	3.25	2.87	-0.592	0.11671	.	.	.	.	.	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	P	0.52881	0.712	T	0.40664	-0.9551	9	0.51188	T	0.08	.	6.1599	0.20358	0.0:0.458:0.0:0.542	.	484	Q07283	TRHY_HUMAN	M	484	ENSP00000357794:R484M	ENSP00000357794:R484M	R	-	2	0	TCHH	150350866	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-1.797000	0.01749	0.063000	0.16370	0.394000	0.25966	AGG	TCHH	-	NULL	ENSG00000159450		0.667	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	-	0.00	201	0	C	NM_007113		152084242	-1	tier1	-	no_errors	ENST00000368804	ensembl	human	known	74_37	missense	30.54	140	62	SNP	0.000	A
TCP10	6953	genome.wustl.edu	37	6	167794617	167794617	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:167794617G>A	ENST00000397829.4	-	3	438	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	TCP10_ENST00000476779.2_Missense_Mutation_p.H91Y|TCP10_ENST00000366827.2_Missense_Mutation_p.H91Y	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	118						cytosol (GO:0005829)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		ACCAGAGTGTGTGATTCTCGC	0.572																																																	0													17.0	20.0	19.0					6																	167794617		2001	4119	6120	SO:0001583	missense	0			U03399	CCDS43527.1	6q27	2012-09-20	2012-09-20		ENSG00000203690	ENSG00000203690			11656	protein-coding gene	gene with protein product		187020	"""t-complex 10 (a murine tcp homolog)"", ""t-complex 10 (mouse)"", ""t-complex 10 homolog (mouse)"""			8111376	Standard	NM_004610		Approved		uc003qvv.1	Q12799	OTTHUMG00000016026	ENST00000397829.4:c.271C>T	6.37:g.167794617G>A	ENSP00000380929:p.His91Tyr		Q5JR60|Q6P4F4	Missense_Mutation	SNP	NULL	p.H91Y	ENST00000397829.4	37	c.271	CCDS43527.1	6	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802600	0.31869	.	.	ENSG00000203690	ENST00000366827;ENST00000397829;ENST00000476779;ENST00000485157	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	2.04	-1.63	0.08345	.	.	.	.	.	T	0.08403	0.0209	L	0.43152	1.355	0.09310	N	1	D;D	0.56968	0.978;0.978	P;P	0.53224	0.721;0.721	T	0.10222	-1.0639	9	0.62326	D	0.03	.	3.6306	0.08130	0.0:0.3725:0.4163:0.2112	.	118;118	Q12799;Q12799-2	TCP10_HUMAN;.	Y	91	ENSP00000355792:H91Y;ENSP00000380929:H91Y;ENSP00000427675:H91Y;ENSP00000423829:H91Y	ENSP00000355792:H91Y	H	-	1	0	TCP10	167714607	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.001000	0.13038	-0.424000	0.07382	0.306000	0.20318	CAC	TCP10	-	NULL	ENSG00000203690		0.572	TCP10-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCP10	HGNC	protein_coding	OTTHUMT00000365570.1	-	0.00	33	0	G	NM_004610		167794617	-1	tier1	-	no_errors	ENST00000397829	ensembl	human	known	74_37	missense	36.84	24	14	SNP	0.000	A
TDG	6996	genome.wustl.edu	37	12	104378572	104378572	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:104378572C>T	ENST00000392872.3	+	8	1072	c.838C>T	c.(838-840)Cct>Tct	p.P280S	TDG_ENST00000544861.1_Missense_Mutation_p.P137S|TDG_ENST00000266775.9_Missense_Mutation_p.P276S|TDG_ENST00000542036.1_Missense_Mutation_p.P76S|AC078819.1_ENST00000401157.1_RNA	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	280					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TGCTCAGTTTCCTCGAGCCCA	0.358								Base excision repair (BER), DNA glycosylases																																									0													96.0	81.0	86.0					12																	104378572		2203	4300	6503	SO:0001583	missense	0			U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.838C>T	12.37:g.104378572C>T	ENSP00000376611:p.Pro280Ser		Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Thymine-DNA_glycosylase	p.P280S	ENST00000392872.3	37	c.838	CCDS9095.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.433235	0.96150	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000542036	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.99	5.99	0.97316	Uracil-DNA glycosylase-like (2);	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	L	0.45698	1.435	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.57522	-0.7797	10	0.52906	T	0.07	-17.4548	20.4777	0.99188	0.0:1.0:0.0:0.0	.	76;280;280	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	S	280;276;137;76	ENSP00000376611:P280S;ENSP00000266775:P276S;ENSP00000445899:P137S;ENSP00000439054:P76S	ENSP00000266775:P276S	P	+	1	0	TDG	102902702	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	CCT	TDG	-	superfamily_Uracil-DNA_glycosylase-like,tigrfam_Thymine-DNA_glycosylase	ENSG00000139372		0.358	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TDG	HGNC	protein_coding	OTTHUMT00000399673.2	-	0.00	57	0	C			104378572	+1	tier1	-	no_errors	ENST00000392872	ensembl	human	known	74_37	missense	34.55	36	19	SNP	1.000	T
TDRD1	56165	genome.wustl.edu	37	10	115963887	115963887	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:115963887T>C	ENST00000369280.1	+	9	1497	c.1037T>C	c.(1036-1038)gTc>gCc	p.V346A	TDRD1_ENST00000369282.1_Missense_Mutation_p.V346A|TDRD1_ENST00000251864.2_Missense_Mutation_p.V346A|TDRD1_ENST00000369281.2_Missense_Mutation_p.V346A|TDRD1_ENST00000422662.1_Intron			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	346	Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAGGCACATGTCTTATATATT	0.353																																																	0													112.0	106.0	108.0					10																	115963887		2203	4300	6503	SO:0001583	missense	0			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1037T>C	10.37:g.115963887T>C	ENSP00000358286:p.Val346Ala		A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND	p.V346A	ENST00000369280.1	37	c.1037		10	.	.	.	.	.	.	.	.	.	.	T	23.1	4.368978	0.82463	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000369280	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	6.06	6.06	0.98353	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.266934	0.29431	N	0.012174	T	0.67571	0.2907	H	0.95574	3.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.996;0.998	T	0.77616	-0.2521	10	0.87932	D	0	-15.1283	14.1325	0.65263	0.0:0.0:0.0:1.0	.	346;346;346;346	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	A	346	ENSP00000358288:V346A;ENSP00000251864:V346A;ENSP00000358287:V346A;ENSP00000358286:V346A	ENSP00000251864:V346A	V	+	2	0	TDRD1	115953877	1.000000	0.71417	0.991000	0.47740	0.873000	0.50193	6.372000	0.73123	2.324000	0.78689	0.533000	0.62120	GTC	TDRD1	-	pfam_Tudor,smart_Tudor,pfscan_Tudor	ENSG00000095627		0.353	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	HGNC	protein_coding	OTTHUMT00000050457.2	-	0.00	51	0	T			115963887	+1	tier1	-	no_errors	ENST00000251864	ensembl	human	known	74_37	missense	44.74	21	17	SNP	0.950	C
TDRD12	91646	genome.wustl.edu	37	19	33301091	33301091	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:33301091G>T	ENST00000444215.2	+	23	3065	c.2745G>T	c.(2743-2745)atG>atT	p.M915I				Q587J7	TDR12_HUMAN	tudor domain containing 12	915	Tudor 2.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			NS(1)|breast(1)|endometrium(3)|lung(2)|prostate(1)|skin(1)	9	Esophageal squamous(110;0.137)					ATGCTGAAATGAATGAGTATT	0.318																																																	0																																										SO:0001583	missense	0			AK023134	CCDS46038.1	19q13.11	2013-01-23				ENSG00000173809		"""Tudor domain containing"""	25044	protein-coding gene	gene with protein product						11441184	Standard	NM_001110822		Approved	ECAT8, FLJ13072	uc002ntq.2	Q587J7		ENST00000444215.2:c.2745G>T	19.37:g.33301091G>T	ENSP00000416248:p.Met915Ile			Missense_Mutation	SNP	pfam_Tudor,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase	p.M915I	ENST00000444215.2	37	c.2745		19	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311645	0.23821	.	.	ENSG00000173809	ENST00000444215	T	0.10763	2.84	5.64	2.27	0.28462	Maternal tudor protein (1);	0.442465	0.22034	N	0.065558	T	0.06462	0.0166	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.14578	0.011	T	0.35871	-0.9771	9	0.22706	T	0.39	-16.1326	5.3164	0.15858	0.0688:0.1257:0.5453:0.2602	.	915	Q587J7	TDR12_HUMAN	I	915	ENSP00000416248:M915I	ENSP00000416248:M915I	M	+	3	0	TDRD12	37992931	0.999000	0.42202	0.972000	0.41901	0.838000	0.47535	0.891000	0.28309	0.295000	0.22570	0.655000	0.94253	ATG	TDRD12	-	pfam_Tudor	ENSG00000173809		0.318	TDRD12-001	KNOWN	basic|appris_principal	protein_coding	TDRD12	HGNC	protein_coding	OTTHUMT00000435933.1	-	0.00	63	0	G	NM_001015890		33301091	+1	tier1	-	no_errors	ENST00000444215	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.991	T
TDRD15	100129278	genome.wustl.edu	37	2	21362232	21362232	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:21362232delA	ENST00000405799.1	+	4	2223	c.1893delA	c.(1891-1893)gcafs	p.A631fs				B5MCY1	TDR15_HUMAN	tudor domain containing 15	631							hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)										AGGTTATAGCAAAAAAAGATG	0.294																																																	0																																										SO:0001589	frameshift_variant	0					2p24.1	2013-01-23	2013-01-23	2013-01-23	ENSG00000218819	ENSG00000218819		"""Tudor domain containing"""	45037	protein-coding gene	gene with protein product							Standard	XR_425376		Approved			B5MCY1	OTTHUMG00000151795	ENST00000405799.1:c.1893delA	2.37:g.21362232delA	ENSP00000384376:p.Ala631fs			Frame_Shift_Del	DEL	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor	p.D634fs	ENST00000405799.1	37	c.1893		2																																																																																			TDRD15	-	NULL	ENSG00000218819		0.294	TDRD15-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	TDRD15	HGNC	protein_coding	OTTHUMT00000323948.1		0.00	27	0	A			21362232	+1	tier1		no_errors	ENST00000405799	ensembl	human	novel	74_37	frame_shift_del	39.13	28	18	DEL	0.009	-
TDRD15	100129278	genome.wustl.edu	37	2	21365159	21365159	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:21365159delT	ENST00000405799.1	+	4	5150	c.4820delT	c.(4819-4821)gttfs	p.V1607fs				B5MCY1	TDR15_HUMAN	tudor domain containing 15	1607	Tudor 7. {ECO:0000255|PROSITE- ProRule:PRU00211}.						hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)										AAAGTACTTGTTTTTTTAGTA	0.308																																																	0																																										SO:0001589	frameshift_variant	0					2p24.1	2013-01-23	2013-01-23	2013-01-23	ENSG00000218819	ENSG00000218819		"""Tudor domain containing"""	45037	protein-coding gene	gene with protein product							Standard	XR_425376		Approved			B5MCY1	OTTHUMG00000151795	ENST00000405799.1:c.4820delT	2.37:g.21365159delT	ENSP00000384376:p.Val1607fs			Frame_Shift_Del	DEL	pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor	p.L1609fs	ENST00000405799.1	37	c.4820		2																																																																																			TDRD15	-	pfam_Tudor,smart_Tudor,pfscan_Tudor	ENSG00000218819		0.308	TDRD15-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	TDRD15	HGNC	protein_coding	OTTHUMT00000323948.1		0.00	26	0	T			21365159	+1	tier1		no_errors	ENST00000405799	ensembl	human	novel	74_37	frame_shift_del	34.21	25	13	DEL	1.000	-
TDRD5	163589	genome.wustl.edu	37	1	179620102	179620102	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:179620102delT	ENST00000367614.1	+	12	2260	c.1901delT	c.(1900-1902)attfs	p.I634fs	TDRD5_ENST00000294848.8_Frame_Shift_Del_p.I634fs|TDRD5_ENST00000444136.1_Frame_Shift_Del_p.I634fs	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	634					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCCTTAACATTTTTTTGTGT	0.408																																																	0													194.0	183.0	187.0					1																	179620102		2203	4300	6503	SO:0001589	frameshift_variant	0			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1901delT	1.37:g.179620102delT	ENSP00000356586:p.Ile634fs		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Frame_Shift_Del	DEL	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.L636fs	ENST00000367614.1	37	c.1901	CCDS1332.1	1																																																																																			TDRD5	-	NULL	ENSG00000162782		0.408	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1		0.00	93	0	T	NM_173533		179620102	+1	tier1		no_errors	ENST00000444136	ensembl	human	known	74_37	frame_shift_del	24.54	123	40	DEL	1.000	-
TDRKH	11022	genome.wustl.edu	37	1	151753980	151753980	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:151753980G>T	ENST00000368822.1	-	3	841	c.208C>A	c.(208-210)Cgg>Agg	p.R70R	TDRKH_ENST00000368825.3_Silent_p.R70R|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368824.3_Silent_p.R70R|TDRKH_ENST00000368823.1_Silent_p.R70R|TDRKH_ENST00000368827.6_Silent_p.R70R|TDRKH_ENST00000458431.2_Silent_p.R70R|TDRKH_ENST00000484421.1_5'UTR			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	70	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	mitochondrion (GO:0005739)|pi-body (GO:0071546)|piP-body (GO:0071547)	RNA binding (GO:0003723)			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTCCTTGCCGGCCAATGATG	0.463																																																	0													123.0	122.0	122.0					1																	151753980		1909	4135	6044	SO:0001819	synonymous_variant	0			AF227192	CCDS41394.1, CCDS41395.1	1q21	2013-01-23	2003-11-07		ENSG00000182134	ENSG00000182134		"""Tudor domain containing"""	11713	protein-coding gene	gene with protein product		609501	"""tudor and KH domain containing"""			10767542	Standard	NM_001083964		Approved	TDRD2	uc001eza.4	Q9Y2W6	OTTHUMG00000013062	ENST00000368822.1:c.208C>A	1.37:g.151753980G>T			D3DV24|Q5SZR3|Q5SZR5|Q8N582|Q9NYV5	Silent	SNP	pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1	p.R70	ENST00000368822.1	37	c.208	CCDS41394.1	1																																																																																			TDRKH	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000182134		0.463	TDRKH-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TDRKH	HGNC	protein_coding	OTTHUMT00000036648.2		0.00	22	0	G	NM_006862		151753980	-1			no_errors	ENST00000368822	ensembl	human	known	74_37	silent	8.16	45	4	SNP	0.980	T
TEAD2	8463	genome.wustl.edu	37	19	49850472	49850473	+	Frame_Shift_Ins	INS	-	-	G	rs568692724		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:49850472_49850473insG	ENST00000311227.2	-	9	973_974	c.883_884insC	c.(883-885)catfs	p.H295fs	TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.H299fs|TEAD2_ENST00000377214.4_Frame_Shift_Ins_p.H298fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.H298fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.H299fs|TEAD2_ENST00000598397.1_5'Flank|TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.H167fs	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	295	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H295fs*12(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAAGAAGGCATGGGGGGGGCCA	0.564																																																	1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	0			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.884dupC	19.37:g.49850480_49850480dupG	ENSP00000310701:p.His295fs		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Frame_Shift_Ins	INS	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.H295fs	ENST00000311227.2	37	c.884_883	CCDS12761.1	19																																																																																			TEAD2	-	pfam_TEA/ATTS,pirsf_TEF	ENSG00000074219		0.564	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TEAD2	HGNC	protein_coding	OTTHUMT00000465465.1		0.00	34	0	-	NM_003598		49850473	-1	tier1		no_errors	ENST00000311227	ensembl	human	known	74_37	frame_shift_ins	38.71	19	12	INS	0.971:0.961	G
TEK	7010	genome.wustl.edu	37	9	27158026	27158026	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:27158026delA	ENST00000380036.4	+	2	692	c.250delA	c.(250-252)aaafs	p.K85fs	TEK_ENST00000406359.4_Frame_Shift_Del_p.K85fs|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	85	Ig-like C2-type 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AGAATGGGCTAAAAAAGTTGT	0.468																																																	0													98.0	99.0	99.0					9																	27158026		2203	4300	6503	SO:0001589	frameshift_variant	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.250delA	9.37:g.27158026delA	ENSP00000369375:p.Lys85fs		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V86fs	ENST00000380036.4	37	c.250	CCDS6519.1	9																																																																																			TEK	-	pfam_Tyr_kin_Tie2_Ig-like_dom-1_N	ENSG00000120156		0.468	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3		0.00	95	0	A			27158026	+1	tier1		no_errors	ENST00000380036	ensembl	human	known	74_37	frame_shift_del	32.14	95	45	DEL	1.000	-
TEK	7010	genome.wustl.edu	37	9	27180305	27180305	+	Nonsense_Mutation	SNP	T	T	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:27180305T>A	ENST00000380036.4	+	7	1411	c.969T>A	c.(967-969)tgT>tgA	p.C323*	TEK_ENST00000406359.4_Intron|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	323	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GGGAGATGTGTGATCGCTTCC	0.493																																																	0													140.0	111.0	121.0					9																	27180305		2203	4300	6503	SO:0001587	stop_gained	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.969T>A	9.37:g.27180305T>A	ENSP00000369375:p.Cys323*		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.C323*	ENST00000380036.4	37	c.969	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	T	37	6.254093	0.97417	.	.	ENSG00000120156	ENST00000380036	.	.	.	5.1	-1.84	0.07809	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2125	0.43150	0.0:0.343:0.0:0.657	.	.	.	.	X	323	.	ENSP00000369375:C323X	C	+	3	2	TEK	27170305	0.039000	0.19947	0.832000	0.32986	0.287000	0.27160	-1.256000	0.02869	-0.479000	0.06813	0.528000	0.53228	TGT	TEK	-	smart_EG-like_dom	ENSG00000120156		0.493	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3	-	0.00	111	0	T			27180305	+1	tier1	-	no_errors	ENST00000380036	ensembl	human	known	74_37	nonsense	49.53	54	53	SNP	0.995	A
TEK	7010	genome.wustl.edu	37	9	27212888	27212888	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:27212888delA	ENST00000380036.4	+	17	3312	c.2870delA	c.(2869-2871)caafs	p.Q957fs	TEK_ENST00000406359.4_Frame_Shift_Del_p.Q914fs|TEK_ENST00000519097.1_Frame_Shift_Del_p.Q809fs	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	957	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TACTTGAGCCAAAAACAGGTT	0.522																																																	0													55.0	50.0	51.0					9																	27212888		2203	4300	6503	SO:0001589	frameshift_variant	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2870delA	9.37:g.27212888delA	ENSP00000369375:p.Gln957fs		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K958fs	ENST00000380036.4	37	c.2870	CCDS6519.1	9																																																																																			TEK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000120156		0.522	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	HGNC	protein_coding	OTTHUMT00000051965.3		0.00	65	0	A			27212888	+1	tier1		no_errors	ENST00000380036	ensembl	human	known	74_37	frame_shift_del	33.33	36	18	DEL	1.000	-
TELO2	9894	genome.wustl.edu	37	16	1545436	1545436	+	Missense_Mutation	SNP	G	G	A	rs554969175		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:1545436G>A	ENST00000262319.6	+	3	704	c.425G>A	c.(424-426)cGg>cAg	p.R142Q		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	142					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCGCAGTGTCGGCAGCAGACG	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		14399	0.001		0.0	False		,,,				2504	0.0																0													13.0	12.0	13.0					16																	1545436		2146	4203	6349	SO:0001583	missense	0			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.425G>A	16.37:g.1545436G>A	ENSP00000262319:p.Arg142Gln		D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.R142Q	ENST00000262319.6	37	c.425	CCDS32363.1	16	.	.	.	.	.	.	.	.	.	.	G	3.337	-0.135507	0.06711	.	.	ENSG00000100726	ENST00000262319	D	0.83914	-1.78	5.01	1.37	0.22104	.	0.875327	0.09996	N	0.729034	T	0.67031	0.2850	N	0.20530	0.585	0.24318	N	0.995059	B	0.18968	0.032	B	0.09377	0.004	T	0.49113	-0.8973	10	0.12766	T	0.61	-0.5734	7.5412	0.27740	0.4366:0.0:0.5634:0.0	.	142	Q9Y4R8	TELO2_HUMAN	Q	142	ENSP00000262319:R142Q	ENSP00000262319:R142Q	R	+	2	0	TELO2	1485437	0.827000	0.29292	0.035000	0.18076	0.077000	0.17291	1.737000	0.38197	0.510000	0.28216	-0.140000	0.14226	CGG	TELO2	-	NULL	ENSG00000100726		0.677	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	HGNC	protein_coding	OTTHUMT00000103602.2	-	0.00	54	0	G	NM_016111		1545436	+1	tier1	-	no_errors	ENST00000262319	ensembl	human	known	74_37	missense	38.10	26	16	SNP	0.777	A
TENM4	26011	genome.wustl.edu	37	11	78369190	78369190	+	Silent	SNP	G	G	A	rs267603207		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:78369190G>A	ENST00000278550.7	-	34	8685	c.8223C>T	c.(8221-8223)ttC>ttT	p.F2741F		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2741					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CAGAGATCACGAAAAAGCCGT	0.602																																																	0													161.0	173.0	169.0					11																	78369190		2116	4212	6328	SO:0001819	synonymous_variant	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.8223C>T	11.37:g.78369190G>A			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.F2741	ENST00000278550.7	37	c.8223	CCDS44688.1	11																																																																																			TENM4	-	NULL	ENSG00000149256		0.602	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0.00	28	0	G			78369190	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	silent	55.56	12	15	SNP	0.997	A
TENM4	26011	genome.wustl.edu	37	11	78443446	78443446	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:78443446C>T	ENST00000278550.7	-	21	3515	c.3053G>A	c.(3052-3054)cGc>cAc	p.R1018H		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1018					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGGGTTGGGGCGGGCAAAATT	0.547																																																	0													73.0	82.0	79.0					11																	78443446		1972	4154	6126	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3053G>A	11.37:g.78443446C>T	ENSP00000278550:p.Arg1018His		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R1018H	ENST00000278550.7	37	c.3053	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.114196	0.94339	.	.	ENSG00000149256	ENST00000278550	D	0.90197	-2.63	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.95130	0.8422	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.94873	0.8032	9	.	.	.	.	18.0785	0.89435	0.0:1.0:0.0:0.0	.	1018	Q6N022	TEN4_HUMAN	H	1018	ENSP00000278550:R1018H	.	R	-	2	0	ODZ4	78121094	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.561000	0.82288	2.495000	0.84180	0.561000	0.74099	CGC	TENM4	-	NULL	ENSG00000149256		0.547	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0.00	67	0	C			78443446	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	30.61	34	15	SNP	1.000	T
TENM4	26011	genome.wustl.edu	37	11	78600941	78600941	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:78600941G>A	ENST00000278550.7	-	9	1435	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	325	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AAGGCCGGCCGGGCGAAGGTG	0.632																																																	0													97.0	94.0	95.0					11																	78600941		692	1591	2283	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.973C>T	11.37:g.78600941G>A	ENSP00000278550:p.Arg325Trp		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.R325W	ENST00000278550.7	37	c.973	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232592	0.79688	.	.	ENSG00000149256	ENST00000278550	T	0.46819	0.86	4.81	0.17	0.15021	Teneurin intracellular, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.62720	0.2451	M	0.64997	1.995	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.63681	-0.6582	9	.	.	.	.	15.414	0.74948	0.0:0.0:0.5027:0.4973	.	325	Q6N022	TEN4_HUMAN	W	325	ENSP00000278550:R325W	.	R	-	1	2	ODZ4	78278589	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	2.460000	0.45031	0.186000	0.20125	0.655000	0.94253	CGG	TENM4	-	pfam_Ten_N	ENSG00000149256		0.632	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	-	0.00	45	0	G			78600941	-1	tier1	-	no_errors	ENST00000278550	ensembl	human	known	74_37	missense	35.14	24	13	SNP	1.000	A
TEX14	56155	genome.wustl.edu	37	17	56700371	56700371	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:56700371C>T	ENST00000240361.8	-	4	339	c.254G>A	c.(253-255)cGc>cAc	p.R85H	TEX14_ENST00000389934.3_Missense_Mutation_p.R85H|TEX14_ENST00000349033.5_Missense_Mutation_p.R85H			Q8IWB6	TEX14_HUMAN	testis expressed 14	85					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.R85P(2)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATCAAAGCAGCGGCTGGGGAG	0.567																																																	2	Substitution - Missense(2)	breast(2)											62.0	46.0	52.0					17																	56700371		2203	4300	6503	SO:0001583	missense	0			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.254G>A	17.37:g.56700371C>T	ENSP00000240361:p.Arg85His		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.R85H	ENST00000240361.8	37	c.254	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881398	0.91740	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.67171	-0.25;-0.25;-0.25	5.21	5.21	0.72293	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000004	D	0.82834	0.5123	M	0.80028	2.48	0.46499	D	0.999076	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.995;0.987;0.993	D	0.85203	0.1016	10	0.87932	D	0	-22.2167	17.6767	0.88232	0.0:1.0:0.0:0.0	.	85;85;85	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	H	85	ENSP00000240361:R85H;ENSP00000374584:R85H;ENSP00000268910:R85H	ENSP00000240361:R85H	R	-	2	0	TEX14	54055370	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.718000	0.68455	2.583000	0.87209	0.655000	0.94253	CGC	TEX14	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000121101		0.567	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1		0.00	22	0	C			56700371	-1			no_errors	ENST00000240361	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	T
TEX19	400629	genome.wustl.edu	37	17	80320144	80320144	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:80320144G>A	ENST00000333437.4	+	2	428	c.118G>A	c.(118-120)Gct>Act	p.A40T		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	40					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						CTGCTTCAAGGCTGCCTTTCT	0.512																																																	0													149.0	137.0	141.0					17																	80320144		2203	4300	6503	SO:0001583	missense	0			BC016939	CCDS11809.1	17q25.3	2009-04-14			ENSG00000182459	ENSG00000182459			33802	protein-coding gene	gene with protein product		615647					Standard	NM_207459		Approved	FLJ35767	uc002keq.3	Q8NA77	OTTHUMG00000132857	ENST00000333437.4:c.118G>A	17.37:g.80320144G>A	ENSP00000331500:p.Ala40Thr			Missense_Mutation	SNP	NULL	p.A40T	ENST00000333437.4	37	c.118	CCDS11809.1	17	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653573	0.29425	.	.	ENSG00000182459	ENST00000333437	.	.	.	3.79	-1.77	0.07982	.	.	.	.	.	T	0.17916	0.0430	N	0.19112	0.55	0.09310	N	1	B	0.22909	0.077	B	0.17098	0.017	T	0.20140	-1.0284	8	0.30854	T	0.27	-24.0844	3.4393	0.07457	0.4187:0.0:0.4033:0.1779	.	40	Q8NA77	TEX19_HUMAN	T	40	.	ENSP00000331500:A40T	A	+	1	0	TEX19	77913433	0.005000	0.15991	0.014000	0.15608	0.222000	0.24845	-0.482000	0.06544	-0.281000	0.09141	-0.244000	0.11960	GCT	TEX19	-	NULL	ENSG00000182459		0.512	TEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX19	HGNC	protein_coding	OTTHUMT00000256331.1	-	0.00	100	0	G	NM_207459		80320144	+1	tier1	-	no_errors	ENST00000333437	ensembl	human	known	74_37	missense	41.46	48	34	SNP	0.085	A
TFAM	7019	genome.wustl.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs544132101|rs78912196		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs|TFAM_ENST00000373899.3_3'UTR	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269																																																	0													39.0	47.0	44.0					10																	60148570		2195	4296	6491	SO:0001589	frameshift_variant	0			BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.432delA	10.37:g.60148570delA	ENSP00000420588:p.Thr144fs		A8MRB2|A9QXC6|B5BU05|Q5U0C6	Frame_Shift_Del	DEL	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.E148fs	ENST00000487519.1	37	c.432	CCDS7253.1	10																																																																																			TFAM	-	superfamily_HMG_box_dom	ENSG00000108064		0.269	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAM	HGNC	protein_coding	OTTHUMT00000048146.1		0.00	36	0	A	NM_003201		60148570	+1	tier1		no_errors	ENST00000487519	ensembl	human	known	74_37	frame_shift_del	31.71	28	13	DEL	0.006	-
TFAP2D	83741	genome.wustl.edu	37	6	50712911	50712911	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:50712911T>C	ENST00000008391.3	+	6	1203	c.975T>C	c.(973-975)caT>caC	p.H325H	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCAGACAACATATGGAACAGA	0.448																																																	0													128.0	121.0	123.0					6																	50712911		2203	4300	6503	SO:0001819	synonymous_variant	0			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.975T>C	6.37:g.50712911T>C				Silent	SNP	pfam_TF_AP2_C,prints_TF_AP2_C	p.H325	ENST00000008391.3	37	c.975	CCDS4933.1	6																																																																																			TFAP2D	-	pfam_TF_AP2_C	ENSG00000008197		0.448	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2D	HGNC	protein_coding	OTTHUMT00000040881.1	-	0.00	41	0	T	NM_172238		50712911	+1	tier1	-	no_errors	ENST00000008391	ensembl	human	known	74_37	silent	38.46	32	20	SNP	1.000	C
TFG	10342	genome.wustl.edu	37	3	100467227	100467227	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:100467227G>T	ENST00000240851.4	+	8	1395	c.1055G>T	c.(1054-1056)aGc>aTc	p.S352I	TFG_ENST00000476228.1_Missense_Mutation_p.S348I|TFG_ENST00000418917.2_Missense_Mutation_p.S348I|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000490574.1_Missense_Mutation_p.S352I	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	352					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						ATGGCTCCAAGCCAACCTGGG	0.507			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																			Dom	yes		3	3q11-q12	10342	TRK-fused gene		"""E, L"""	0													78.0	78.0	78.0					3																	100467227		2203	4300	6503	SO:0001583	missense	0			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.1055G>T	3.37:g.100467227G>T	ENSP00000240851:p.Ser352Ile		D3DN49|G5E9V1|Q15656|Q969I2	Missense_Mutation	SNP	pfam_OPR_PB1,smart_OPR_PB1	p.S352I	ENST00000240851.4	37	c.1055	CCDS2939.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.52|17.52	3.409692|3.409692	0.62399|0.62399	.|.	.|.	ENSG00000114354|ENSG00000114354	ENST00000443578|ENST00000418917;ENST00000490574;ENST00000240851;ENST00000476228	.|T;T;T;T	.|0.47177	.|0.85;0.86;0.86;0.85	6.16|6.16	5.29|5.29	0.74685|0.74685	.|.	.|0.053829	.|0.64402	.|D	.|0.000001	T|T	0.32346|0.32346	0.0826|0.0826	N|N	0.14661|0.14661	0.345|0.345	0.45852|0.45852	D|D	0.99871|0.99871	.|P;P	.|0.44195	.|0.828;0.736	.|B;B	.|0.38803	.|0.282;0.205	T|T	0.17440|0.17440	-1.0369|-1.0369	6|10	0.87932|0.45353	D|T	0|0.12	-7.0483|-7.0483	15.1893|15.1893	0.73032|0.73032	0.0675:0.0:0.9325:0.0|0.0675:0.0:0.9325:0.0	.|.	.|348;352	.|G5E9V1;Q92734	.|.;TFG_HUMAN	S|I	348|348;352;352;348	.|ENSP00000397182:S348I;ENSP00000419960:S352I;ENSP00000240851:S352I;ENSP00000417952:S348I	ENSP00000409727:A348S|ENSP00000240851:S352I	A|S	+|+	1|2	0|0	TFG|TFG	101949917|101949917	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.840000|3.840000	0.55843|0.55843	1.631000|1.631000	0.50456|0.50456	0.650000|0.650000	0.86243|0.86243	GCC|AGC	TFG	-	NULL	ENSG00000114354		0.507	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFG	HGNC	protein_coding	OTTHUMT00000353242.1	-	0.00	56	0	G	NM_006070		100467227	+1	tier1	-	no_errors	ENST00000240851	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
TG	7038	genome.wustl.edu	37	8	133906103	133906103	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:133906103C>T	ENST00000220616.4	+	11	2970	c.2930C>T	c.(2929-2931)cCg>cTg	p.P977L	TG_ENST00000377869.1_Missense_Mutation_p.P977L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	977	Thyroglobulin type-1 8. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCGCTCTTCCCGCCCCGGGAG	0.602																																																	0													82.0	78.0	80.0					8																	133906103		2203	4300	6503	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2930C>T	8.37:g.133906103C>T	ENSP00000220616:p.Pro977Leu		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.P977L	ENST00000220616.4	37	c.2930	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	c	12.11	1.839116	0.32513	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.63913	-0.07;-0.07	4.9	3.08	0.35506	Thyroglobulin type-1 (1);	0.896401	0.09555	N	0.786440	T	0.47451	0.1446	L	0.52573	1.65	0.09310	N	1	P	0.44659	0.84	B	0.31390	0.129	T	0.44544	-0.9321	10	0.56958	D	0.05	.	4.146	0.10215	0.1615:0.576:0.0:0.2625	.	977	P01266	THYG_HUMAN	L	977	ENSP00000367100:P977L;ENSP00000220616:P977L	ENSP00000220616:P977L	P	+	2	0	TG	133975285	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	0.707000	0.25704	0.491000	0.27793	0.380000	0.24917	CCG	TG	-	superfamily_Thyroglobulin_1,pirsf_Thyroglobulin	ENSG00000042832		0.602	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	-	0.00	86	0	C	NM_003235		133906103	+1	tier1	-	no_errors	ENST00000220616	ensembl	human	known	74_37	missense	34.21	50	26	SNP	0.001	T
TGFB1I1	7041	genome.wustl.edu	37	16	31488292	31488292	+	Silent	SNP	G	G	A	rs550050905	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:31488292G>A	ENST00000394863.3	+	10	1210	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A	TGFB1I1_ENST00000394858.2_Silent_p.A343A|TGFB1I1_ENST00000567607.1_Silent_p.A343A|TGFB1I1_ENST00000361773.3_Silent_p.A343A	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	360	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						ACATCTCGGCGCTCAGCGCGC	0.721													G|||	2	0.000399361	0.0	0.0	5008	,	,		8089	0.0		0.0	False		,,,				2504	0.002																0													8.0	9.0	8.0					16																	31488292		2174	4246	6420	SO:0001819	synonymous_variant	0			AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.1080G>A	16.37:g.31488292G>A			B2R8D5|Q9BPW3|Q9Y2V5	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.A360	ENST00000394863.3	37	c.1080	CCDS42156.1	16																																																																																			TGFB1I1	-	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	ENSG00000140682		0.721	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFB1I1	HGNC	protein_coding	OTTHUMT00000255630.3	-	0.00	37	0	G			31488292	+1	tier1	-	no_errors	ENST00000394863	ensembl	human	known	74_37	silent	52.00	12	13	SNP	0.941	A
TGFBR2	7048	genome.wustl.edu	37	3	30691872	30691872	+	Frame_Shift_Del	DEL	A	A	-	rs79375991		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:30691872delA	ENST00000295754.5	+	3	756	c.374delA	c.(373-375)gaafs	p.E125fs	TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.E150fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	125					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.?(1)|p.P129fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATTATGAAGGAAAAAAAAAAG	0.423																																																	2	Unknown(1)|Insertion - Frameshift(1)	large_intestine(1)|skin(1)											89.0	92.0	91.0					3																	30691872		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.374delA	3.37:g.30691872delA	ENSP00000295754:p.Glu125fs		B4DTV5|Q15580|Q6DKT6|Q99474	Frame_Shift_Del	DEL	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.K153fs	ENST00000295754.5	37	c.449	CCDS2648.1	3																																																																																			TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,prints_TGFB_receptor	ENSG00000163513		0.423	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2		0.00	35	0	A			30691872	+1	tier1		no_errors	ENST00000359013	ensembl	human	known	74_37	frame_shift_del	32.14	38	18	DEL	1.000	-
TGFBR2	7048	genome.wustl.edu	37	3	30691872	30691873	+	Frame_Shift_Del	DEL	AA	AA	-	rs79375991		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:30691872_30691873delAA	ENST00000295754.5	+	3	756_757	c.374_375delAA	c.(373-375)gaafs	p.E125fs	TGFBR2_ENST00000359013.4_Frame_Shift_Del_p.E150fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	125					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)	p.?(1)|p.P129fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ATTATGAAGGAAAAAAAAAAGC	0.426																																																	2	Unknown(1)|Insertion - Frameshift(1)	large_intestine(1)|skin(1)																																								SO:0001589	frameshift_variant	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.374_375delAA	3.37:g.30691880_30691881delAA	ENSP00000295754:p.Glu125fs		B4DTV5|Q15580|Q6DKT6|Q99474	Frame_Shift_Del	DEL	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom	p.K153fs	ENST00000295754.5	37	c.449_450	CCDS2648.1	3																																																																																			TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,prints_TGFB_receptor	ENSG00000163513		0.426	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2		0.00	35	0	AA			30691873	+1			no_errors	ENST00000359013	ensembl	human	known	74_37	frame_shift_del	37.50	35	21	DEL	1.000:0.990	0
TGM2	7052	genome.wustl.edu	37	20	36789862	36789862	+	Silent	SNP	G	G	A	rs372553139		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:36789862G>A	ENST00000361475.2	-	2	323	c.150C>T	c.(148-150)taC>taT	p.Y50Y	TGM2_ENST00000536701.1_Silent_p.Y50Y|TGM2_ENST00000536724.1_Intron	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	50					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CACTGGCCTCGTAGTTGCGGC	0.642																																																	0													73.0	56.0	62.0					20																	36789862		2203	4300	6503	SO:0001819	synonymous_variant	0			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.150C>T	20.37:g.36789862G>A			E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.Y50	ENST00000361475.2	37	c.150	CCDS13302.1	20																																																																																			TGM2	-	pfam_Transglutaminase_N,superfamily_Ig_E-set	ENSG00000198959		0.642	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM2	HGNC	protein_coding	OTTHUMT00000079151.2	-	0.00	47	0	G	NM_198951		36789862	-1	tier1	-	no_errors	ENST00000361475	ensembl	human	known	74_37	silent	55.17	26	32	SNP	0.938	A
THADA	63892	genome.wustl.edu	37	2	43801837	43801837	+	Missense_Mutation	SNP	G	G	A	rs574838357		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:43801837G>A	ENST00000405006.4	-	11	1718	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M	THADA_ENST00000402360.2_Missense_Mutation_p.T456M|THADA_ENST00000415080.2_Missense_Mutation_p.T166M|THADA_ENST00000405975.2_Missense_Mutation_p.T456M|THADA_ENST00000403856.1_Missense_Mutation_p.T456M|THADA_ENST00000404790.1_Missense_Mutation_p.T456M|THADA_ENST00000330266.7_Missense_Mutation_p.T166M	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	456								p.T456M(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACCAAGGCACGTGTACTTTCC	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		21758	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	lung(1)											132.0	127.0	129.0					2																	43801837		1909	4108	6017	SO:0001583	missense	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1367C>T	2.37:g.43801837G>A	ENSP00000385995:p.Thr456Met		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.T456M	ENST00000405006.4	37	c.1367	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	G	6.214	0.407655	0.11754	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856	T;T;T;T;T;T;T	0.65549	1.45;1.45;1.45;1.45;-0.16;-0.16;1.45	5.84	-2.61	0.06171	Armadillo-type fold (1);	0.837250	0.11048	N	0.605413	T	0.48624	0.1510	L	0.40543	1.245	0.09310	N	1	B;B;P;P;B	0.37594	0.174;0.036;0.601;0.599;0.007	B;B;B;B;B	0.32289	0.03;0.004;0.143;0.068;0.001	T	0.21143	-1.0254	10	0.41790	T	0.15	-9.3942	14.2351	0.65922	0.2598:0.0:0.7402:0.0	.	456;456;456;166;456	B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6	.;.;.;.;THADA_HUMAN	M	166;456;456;166;456;456;456;456	ENSP00000331105:T166M;ENSP00000386088:T456M;ENSP00000416048:T166M;ENSP00000385995:T456M;ENSP00000385441:T456M;ENSP00000384266:T456M;ENSP00000385469:T456M	ENSP00000331105:T166M	T	-	2	0	THADA	43655341	0.005000	0.15991	0.003000	0.11579	0.473000	0.32948	0.194000	0.17135	-0.958000	0.03622	-1.149000	0.01842	ACG	THADA	-	superfamily_ARM-type_fold	ENSG00000115970		0.418	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	-	0.00	57	0	G	NM_022065		43801837	-1	tier1	-	no_errors	ENST00000405006	ensembl	human	known	74_37	missense	52.50	19	21	SNP	0.068	A
THADA	63892	genome.wustl.edu	37	2	43814114	43814114	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:43814114delA	ENST00000405006.4	-	5	681	c.330delT	c.(328-330)tttfs	p.F110fs	THADA_ENST00000402360.2_Frame_Shift_Del_p.F110fs|THADA_ENST00000415080.2_5'UTR|THADA_ENST00000405975.2_Frame_Shift_Del_p.F110fs|THADA_ENST00000403856.1_Frame_Shift_Del_p.F110fs|THADA_ENST00000404790.1_Frame_Shift_Del_p.F110fs	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	110										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CCTCAGGTAGAAAAAAATCAG	0.358																																																	0													49.0	48.0	48.0					2																	43814114		1817	4064	5881	SO:0001589	frameshift_variant	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.330delT	2.37:g.43814114delA	ENSP00000385995:p.Phe110fs		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Frame_Shift_Del	DEL	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.L111fs	ENST00000405006.4	37	c.330	CCDS46268.1	2																																																																																			THADA	-	NULL	ENSG00000115970		0.358	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3		0.00	28	0	A	NM_022065		43814114	-1	tier1		no_errors	ENST00000405006	ensembl	human	known	74_37	frame_shift_del	28.57	10	4	DEL	0.055	-
TGOLN2	10618	genome.wustl.edu	37	2	85555050	85555050	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:85555050G>T	ENST00000409232.3	-	1	97	c.36C>A	c.(34-36)gtC>gtA	p.V12V	TGOLN2_ENST00000398263.2_Silent_p.V12V|TGOLN2_ENST00000409015.1_Silent_p.V12V|TGOLN2_ENST00000444342.2_Silent_p.V12V|TGOLN2_ENST00000282120.2_Silent_p.V12V|TGOLN2_ENST00000377386.3_Silent_p.V12V			O43493	TGON2_HUMAN	trans-golgi network protein 2	12						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CCGCCGCTGCGACGTTCAGGA	0.647																																																	0													26.0	32.0	30.0					2																	85555050		2036	4168	6204	SO:0001819	synonymous_variant	0			AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.36C>A	2.37:g.85555050G>T			B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	NULL	p.V12	ENST00000409232.3	37	c.36	CCDS56126.1	2																																																																																			TGOLN2	-	NULL	ENSG00000152291		0.647	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TGOLN2	HGNC	protein_coding	OTTHUMT00000329045.2	-	0.00	104	0	G	NM_006464		85555050	-1	tier1	-	no_errors	ENST00000377386	ensembl	human	known	74_37	silent	7.14	91	7	SNP	0.138	T
THAP4	51078	genome.wustl.edu	37	2	242572997	242572997	+	Missense_Mutation	SNP	G	G	A	rs147957437	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:242572997G>A	ENST00000407315.1	-	2	1006	c.575C>T	c.(574-576)gCg>gTg	p.A192V		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	192							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TGTGGCAGACGCTTCTGCTTT	0.602																																																	0													79.0	82.0	81.0					2																	242572997		2203	4296	6499	SO:0001583	missense	0			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.575C>T	2.37:g.242572997G>A	ENSP00000385006:p.Ala192Val		Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH	p.A192V	ENST00000407315.1	37	c.575	CCDS2551.1	2	.	.	.	.	.	.	.	.	.	.	G	8.403	0.842421	0.16963	.	.	ENSG00000176946	ENST00000407315	D	0.95690	-3.78	4.29	-8.57	0.00900	.	11.052600	0.00559	N	0.000272	D	0.87442	0.6178	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.76924	-0.2779	10	0.33940	T	0.23	-0.5252	0.8617	0.01194	0.3268:0.2364:0.2624:0.1744	.	192	Q8WY91	THAP4_HUMAN	V	192	ENSP00000385006:A192V	ENSP00000385006:A192V	A	-	2	0	THAP4	242221670	0.000000	0.05858	0.000000	0.03702	0.213000	0.24496	-0.652000	0.05366	-1.488000	0.01847	-0.238000	0.12139	GCG	THAP4	-	NULL	ENSG00000176946		0.602	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP4	HGNC	protein_coding	OTTHUMT00000257267.3	-	0.00	18	0	G	NM_015963		242572997	-1	tier1	-	no_errors	ENST00000407315	ensembl	human	known	74_37	missense	45.83	12	11	SNP	0.000	A
THEMIS2	9473	genome.wustl.edu	37	1	28208867	28208867	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:28208867C>T	ENST00000373921.3	+	4	1036	c.1032C>T	c.(1030-1032)ggC>ggT	p.G344G	THEMIS2_ENST00000328928.7_Intron|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	344	CABIT 2.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCCAGCCAGGCCGGCCACTCC	0.667																																																	0													22.0	27.0	26.0					1																	28208867		1961	4155	6116	SO:0001819	synonymous_variant	0			AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1032C>T	1.37:g.28208867C>T			A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Silent	SNP	NULL	p.G344	ENST00000373921.3	37	c.1032	CCDS41290.1	1																																																																																			THEMIS2	-	NULL	ENSG00000130775		0.667	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THEMIS2	HGNC	protein_coding	OTTHUMT00000011148.1	-	0.00	89	0	C	NM_004848		28208867	+1	tier1	-	no_errors	ENST00000373921	ensembl	human	known	74_37	silent	37.21	54	32	SNP	0.509	T
THBS3	7059	genome.wustl.edu	37	1	155166890	155166890	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:155166890G>A	ENST00000368378.3	-	21	2634	c.2614C>T	c.(2614-2616)Cgg>Tgg	p.R872W	THBS3_ENST00000541576.1_Missense_Mutation_p.R269W|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.R752W|MIR92B_ENST00000607575.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.R401W	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	872	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTCTTGTCCCGCCAGCCCACA	0.622																																																	0													90.0	80.0	83.0					1																	155166890		2203	4300	6503	SO:0001583	missense	0			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2614C>T	1.37:g.155166890G>A	ENSP00000357362:p.Arg872Trp		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.R872W	ENST00000368378.3	37	c.2614	CCDS1099.1	1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908421	0.72868	.	.	ENSG00000169231	ENST00000368378;ENST00000541576;ENST00000457183;ENST00000541990	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	4.54	3.6	0.41247	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.374331	0.22104	N	0.064572	D	0.88633	0.6489	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;P;P;P	0.61658	0.892;0.849;0.849;0.849	D	0.89704	0.3907	10	0.87932	D	0	-10.671	9.8486	0.41043	0.0:0.0:0.627:0.373	.	752;872;872;872	B4DQ20;Q53FK6;Q2HIZ0;P49746	.;.;.;TSP3_HUMAN	W	872;269;752;401	ENSP00000357362:R872W;ENSP00000444792:R269W;ENSP00000392207:R752W;ENSP00000437353:R401W	ENSP00000357362:R872W	R	-	1	2	THBS3	153433514	0.998000	0.40836	0.996000	0.52242	0.963000	0.63663	2.659000	0.46741	1.237000	0.43756	0.591000	0.81541	CGG	THBS3	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf	ENSG00000169231		0.622	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS3	HGNC	protein_coding	OTTHUMT00000086856.1	-	0.00	97	0	G	NM_007112		155166890	-1	tier1	-	no_errors	ENST00000368378	ensembl	human	known	74_37	missense	19.35	75	18	SNP	1.000	A
THOP1	7064	genome.wustl.edu	37	19	2807603	2807603	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:2807603C>T	ENST00000307741.6	+	8	1253	c.1050C>T	c.(1048-1050)tgC>tgT	p.C350C	THOP1_ENST00000586677.1_Silent_p.C229C|THOP1_ENST00000395212.4_5'Flank|THOP1_ENST00000591149.1_3'UTR	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	350					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGCTACTGCGTGGACCAGA	0.667																																																	0													55.0	57.0	57.0					19																	2807603		2201	4300	6501	SO:0001819	synonymous_variant	0				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.1050C>T	19.37:g.2807603C>T			B3KSE2|Q9UCB3	Silent	SNP	pfam_Pept_M3A_M3B	p.C350	ENST00000307741.6	37	c.1050	CCDS12095.1	19																																																																																			THOP1	-	pfam_Pept_M3A_M3B	ENSG00000172009		0.667	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOP1	HGNC	protein_coding	OTTHUMT00000451587.2	-	0.00	67	0	C			2807603	+1	tier1	-	no_errors	ENST00000307741	ensembl	human	known	74_37	silent	46.67	24	21	SNP	0.910	T
THSD7A	221981	genome.wustl.edu	37	7	11676257	11676257	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:11676257A>G	ENST00000423059.4	-	2	773	c.522T>C	c.(520-522)tgT>tgC	p.C174C	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	174					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CAAAGTACTCACAGATGATAT	0.498										HNSCC(18;0.044)																																							0													80.0	80.0	80.0					7																	11676257		2012	4191	6203	SO:0001819	synonymous_variant	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.522T>C	7.37:g.11676257A>G				Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.C174	ENST00000423059.4	37	c.522	CCDS47543.1	7																																																																																			THSD7A	-	superfamily_Thrombospondin_1_rpt	ENSG00000005108		0.498	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	-	0.00	23	0	A	XM_928187.2		11676257	-1	tier1	-	no_errors	ENST00000423059	ensembl	human	known	74_37	silent	50.00	6	6	SNP	1.000	G
TIAL1	7073	genome.wustl.edu	37	10	121335157	121335157	+	3'UTR	DEL	T	T	-	rs73366847	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:121335157delT	ENST00000436547.2	-	0	1192				TIAL1_ENST00000369092.4_3'UTR|TIAL1_ENST00000463089.2_5'UTR|TIAL1_ENST00000369093.2_3'UTR	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1						apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		TGAATTACAATTTTTTTTTAG	0.398																																																	0													93.0	101.0	99.0					10																	121335157		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.*20A>-	10.37:g.121335157delT			A8K3T0|A8K4L9	RNA	DEL	-	NULL	ENST00000436547.2	37	NULL	CCDS7613.1	10																																																																																			TIAL1	-	-	ENSG00000151923		0.398	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAL1	HGNC	protein_coding	OTTHUMT00000050672.2		0.00	56	0	T	NM_022333, NM_003252		121335157	-1	tier1		no_errors	ENST00000463089	ensembl	human	known	74_37	rna	23.38	59	18	DEL	0.987	-
TIAM1	7074	genome.wustl.edu	37	21	32508318	32508318	+	Silent	SNP	G	G	A	rs141765629	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:32508318G>A	ENST00000286827.3	-	24	4287	c.3816C>T	c.(3814-3816)acC>acT	p.T1272T	TIAM1_ENST00000541036.1_Silent_p.T1212T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1272	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCAGATCACGGTAGTGTGCA	0.507																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	87.0	83.0	85.0		3816	-7.8	1.0	21	dbSNP_134	85	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	TIAM1	NM_003253.2		0,9,6494	AA,AG,GG		0.093,0.0227,0.0692		1272/1592	32508318	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3816C>T	21.37:g.32508318G>A			B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.T1272	ENST00000286827.3	37	c.3816	CCDS13609.1	21																																																																																			TIAM1	-	smart_Pleckstrin_homology	ENSG00000156299		0.507	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1		0.00	57	0	G	NM_003253		32508318	-1			no_errors	ENST00000286827	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.565	A
TICAM1	148022	genome.wustl.edu	37	19	4816464	4816465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4816464_4816465insG	ENST00000248244.5	-	2	2154_2155	c.1925_1926insC	c.(1924-1926)ccafs	p.P642fs		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	642	Pro-rich.|Sufficient to induce apoptosis.			Missing (in Ref. 6; AAO85488). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.P643fs*>71(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGGAGGGCGGTGGGGGGGTGCC	0.733																																																	1	Insertion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1926dupC	19.37:g.4816471_4816471dupG	ENSP00000248244:p.Pro642fs		B3Y691|O75532|Q86XP8|Q96GA0	Frame_Shift_Ins	INS	superfamily_TIR_dom,pirsf_TICAM1	p.P643fs	ENST00000248244.5	37	c.1926_1925	CCDS12136.1	19																																																																																			TICAM1	-	pirsf_TICAM1	ENSG00000127666		0.733	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	HGNC	protein_coding	OTTHUMT00000450435.1		0.00	85	0	-	NM_014261		4816465	-1	tier1		no_errors	ENST00000248244	ensembl	human	known	74_37	frame_shift_ins	23.53	39	12	INS	0.000:0.003	G
TIE1	7075	genome.wustl.edu	37	1	43772910	43772910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:43772910delC	ENST00000372476.3	+	5	817	c.738delC	c.(736-738)tgcfs	p.C246fs	TIE1_ENST00000441333.2_Frame_Shift_Del_p.C246fs|TIE1_ENST00000538015.1_Frame_Shift_Del_p.C246fs|TIE1_ENST00000433781.2_5'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	246	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P248fs*117(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AATGTGTATGCCCCCCTGGCT	0.632																																																	1	Deletion - Frameshift(1)	large_intestine(1)											56.0	53.0	54.0					1																	43772910		2203	4300	6503	SO:0001589	frameshift_variant	0			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.738delC	1.37:g.43772910delC	ENSP00000361554:p.Cys246fs		B5A949|B5A950	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P248fs	ENST00000372476.3	37	c.738	CCDS482.1	1																																																																																			TIE1	-	smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000066056		0.632	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1		0.00	79	0	C	NM_005424		43772910	+1	tier1		no_errors	ENST00000372476	ensembl	human	known	74_37	frame_shift_del	42.42	38	28	DEL	0.382	-
TIGD2	166815	genome.wustl.edu	37	4	90035292	90035292	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:90035292delC	ENST00000317005.2	+	1	1325	c.1167delC	c.(1165-1167)ttcfs	p.F389fs	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	389						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		AAAAACTTTTCCCTGGCAATG	0.368																																																	0													87.0	89.0	88.0					4																	90035292		2203	4300	6503	SO:0001589	frameshift_variant	0			AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.1167delC	4.37:g.90035292delC	ENSP00000317170:p.Phe389fs			Frame_Shift_Del	DEL	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.P390fs	ENST00000317005.2	37	c.1167	CCDS3633.1	4																																																																																			TIGD2	-	NULL	ENSG00000180346		0.368	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD2	HGNC	protein_coding	OTTHUMT00000253545.2		0.00	27	0	C	NM_145715		90035292	+1	tier1		no_errors	ENST00000317005	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.997	-
TIGD4	201798	genome.wustl.edu	37	4	153691396	153691396	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:153691396G>T	ENST00000304337.2	-	2	1581	c.761C>A	c.(760-762)gCt>gAt	p.A254D		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	254	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CATTCTGTTAGCTTCATAACA	0.398																																																	0													136.0	134.0	134.0					4																	153691396		2203	4300	6503	SO:0001583	missense	0			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.761C>A	4.37:g.153691396G>T	ENSP00000355162:p.Ala254Asp		Q96LP5	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.A254D	ENST00000304337.2	37	c.761	CCDS34079.1	4	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952382	0.73787	.	.	ENSG00000169989	ENST00000304337	T	0.48836	0.8	6.03	6.03	0.97812	.	0.131674	0.34725	N	0.003725	T	0.66703	0.2816	M	0.63843	1.955	0.44018	D	0.996737	D	0.69078	0.997	D	0.63703	0.917	T	0.63967	-0.6517	10	0.51188	T	0.08	-11.9176	20.1672	0.98154	0.0:0.0:1.0:0.0	.	254	Q8IY51	TIGD4_HUMAN	D	254	ENSP00000355162:A254D	ENSP00000355162:A254D	A	-	2	0	TIGD4	153910846	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.224000	0.51238	2.861000	0.98227	0.655000	0.94253	GCT	TIGD4	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000169989		0.398	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD4	HGNC	protein_coding	OTTHUMT00000365028.1	-	0.00	78	0	G	NM_145720		153691396	-1	tier1	-	no_errors	ENST00000304337	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
TIGD7	91151	genome.wustl.edu	37	16	3349612	3349612	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:3349612T>C	ENST00000396862.1	-	2	2831	c.1003A>G	c.(1003-1005)Atc>Gtc	p.I335V	TIGD7_ENST00000268674.2_Missense_Mutation_p.I335V|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	335	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CAGCTCAAGatcacaccttga	0.403																																																	0													57.0	59.0	58.0					16																	3349612		2197	4300	6497	SO:0001583	missense	0			AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.1003A>G	16.37:g.3349612T>C	ENSP00000380071:p.Ile335Val		Q9BXZ0	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.I335V	ENST00000396862.1	37	c.1003	CCDS10500.1	16	.	.	.	.	.	.	.	.	.	.	T	6.796	0.515969	0.12944	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.42900	0.96;0.96	4.52	3.42	0.39159	.	0.348201	0.20390	U	0.093277	T	0.33962	0.0881	L	0.60957	1.885	0.21445	N	0.999682	B	0.02656	0.0	B	0.06405	0.002	T	0.24799	-1.0150	10	0.20519	T	0.43	.	6.6518	0.22967	0.0:0.1109:0.0:0.8891	.	335	Q6NT04	TIGD7_HUMAN	V	335	ENSP00000380071:I335V;ENSP00000268674:I335V	ENSP00000268674:I335V	I	-	1	0	TIGD7	3289613	0.979000	0.34478	0.992000	0.48379	0.945000	0.59286	1.179000	0.31993	0.602000	0.29896	0.533000	0.62120	ATC	TIGD7	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000140993		0.403	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	HGNC	protein_coding	OTTHUMT00000251465.1	-	0.00	29	0	T	NM_033208		3349612	-1	tier1	-	no_errors	ENST00000268674	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.999	C
TIMM13	26517	genome.wustl.edu	37	19	2426965	2426965	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:2426965C>A	ENST00000215570.3	-	3	629	c.269G>T	c.(268-270)cGg>cTg	p.R90L	LMNB2_ENST00000475819.1_5'Flank|TIMM13_ENST00000591871.1_Missense_Mutation_p.R75L	NM_012458.2	NP_036590.1	Q9Y5L4	TIM13_HUMAN	translocase of inner mitochondrial membrane 13 homolog (yeast)	90					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|protein targeting to mitochondrion (GO:0006626)|sensory perception of sound (GO:0007605)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space protein transporter complex (GO:0042719)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	zinc ion binding (GO:0008270)			endometrium(1)|prostate(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTCGTTCCCGCTGCAGCCG	0.637																																																	0													40.0	28.0	32.0					19																	2426965		2200	4294	6494	SO:0001583	missense	0			AF152352	CCDS12089.1	19p13.3	2008-07-04	2001-11-28	2002-03-17		ENSG00000099800			11816	protein-coding gene	gene with protein product		607383	"""translocase of inner mitochondrial membrane 13 (yeast) homolog B"""	TIMM13B		10552927, 17329230	Standard	NM_012458		Approved	Tim13	uc002lvx.1	Q9Y5L4		ENST00000215570.3:c.269G>T	19.37:g.2426965C>A	ENSP00000215570:p.Arg90Leu		P62206|Q9UHL8|Q9WTL1	Missense_Mutation	SNP	pfam_Tim10/DDP_fam_Znf,superfamily_Tim10/DDP_fam_Znf	p.R90L	ENST00000215570.3	37	c.269	CCDS12089.1	19	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614529	0.87359	.	.	ENSG00000099800	ENST00000215570	T	0.63096	-0.02	4.37	4.37	0.52481	.	0.069012	0.53938	U	0.000060	T	0.71600	0.3359	.	.	.	0.49798	D	0.999822	D	0.53885	0.963	P	0.52909	0.713	T	0.77143	-0.2696	9	0.72032	D	0.01	-27.4532	15.484	0.75551	0.0:1.0:0.0:0.0	.	90	Q9Y5L4	TIM13_HUMAN	L	90	ENSP00000215570:R90L	ENSP00000215570:R90L	R	-	2	0	TIMM13	2377965	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	2.931000	0.48932	1.961000	0.56991	0.313000	0.20887	CGG	TIMM13	-	superfamily_Tim10/DDP_fam_Znf	ENSG00000099800		0.637	TIMM13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM13	HGNC	protein_coding	OTTHUMT00000451333.1	-	0.00	169	0	C			2426965	-1	tier1	-	no_errors	ENST00000215570	ensembl	human	known	74_37	missense	6.20	121	8	SNP	1.000	A
TIMP4	7079	genome.wustl.edu	37	3	12198914	12198914	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:12198914delT	ENST00000287814.4	-	2	718	c.208delA	c.(208-210)atgfs	p.M70fs	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	70	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						TACCGGAGCATTTTTTCAGTG	0.507																																					Melanoma(199;1446 2144 30617 38794 51714)												0													104.0	94.0	97.0					3																	12198914		2203	4300	6503	SO:0001589	frameshift_variant	0			U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"""tissue inhibitor of metalloproteinase 4"""			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763	ENST00000287814.4:c.208delA	3.37:g.12198914delT	ENSP00000287814:p.Met70fs		B2R7K6	Frame_Shift_Del	DEL	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	p.M70fs	ENST00000287814.4	37	c.208	CCDS2608.1	3																																																																																			TIMP4	-	pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain	ENSG00000157150		0.507	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMP4	HGNC	protein_coding	OTTHUMT00000251978.1		0.00	105	0	T	NM_003256		12198914	-1	tier1		no_errors	ENST00000287814	ensembl	human	known	74_37	frame_shift_del	26.03	54	19	DEL	1.000	-
TLE1	7088	genome.wustl.edu	37	9	84208174	84208174	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:84208174G>A	ENST00000376499.3	-	15	2411	c.1347C>T	c.(1345-1347)caC>caT	p.H449H		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	449	Pro/Ser-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CTGCAGTAACGTGGAAGGAGT	0.527																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)												0													65.0	60.0	62.0					9																	84208174		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1347C>T	9.37:g.84208174G>A			A8K495|Q5T3G4|Q969V9	Silent	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.H449	ENST00000376499.3	37	c.1347	CCDS6661.1	9																																																																																			TLE1	-	superfamily_WD40_repeat_dom	ENSG00000196781		0.527	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE1	HGNC	protein_coding	OTTHUMT00000055407.1	-	0.00	72	0	G	NM_005077		84208174	-1	tier1	-	no_errors	ENST00000376499	ensembl	human	known	74_37	silent	8.33	44	4	SNP	1.000	A
TLK1	9874	genome.wustl.edu	37	2	172016964	172016964	+	5'UTR	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:172016964delC	ENST00000431350.2	-	0	379				TLK1_ENST00000521943.1_Intron|TLK1_ENST00000360843.3_5'UTR|TLK1_ENST00000442919.2_5'UTR			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GAACCCGACTCCCCCCCTGCG	0.682																																																	0													41.0	50.0	47.0					2																	172016964		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.-26G>-	2.37:g.172016964delC			B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	RNA	DEL	-	NULL	ENST00000431350.2	37	NULL	CCDS2241.1	2																																																																																			TLK1	-	-	ENSG00000198586		0.682	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLK1	HGNC	protein_coding	OTTHUMT00000255314.1		0.00	66	0	C	NM_012290		172016964	-1	tier1		no_errors	ENST00000413010	ensembl	human	known	74_37	rna	37.29	37	22	DEL	0.998	-
TLK2	11011	genome.wustl.edu	37	17	60637441	60637441	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:60637441G>A	ENST00000326270.9	+	10	1053	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	TLK2_ENST00000542523.1_Missense_Mutation_p.R230Q|TLK2_ENST00000346027.5_Missense_Mutation_p.R262Q|TLK2_ENST00000582809.1_Missense_Mutation_p.R113Q|TLK2_ENST00000343388.7_Missense_Mutation_p.R230Q	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	262			R -> Q. {ECO:0000269|PubMed:17344846}.		cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R262Q(17)|p.R261Q(9)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TACAAGGAACGATTAAATAGA	0.358																																																	26	Substitution - Missense(26)	endometrium(15)|kidney(9)|central_nervous_system(2)											72.0	74.0	73.0					17																	60637441		2203	4298	6501	SO:0001583	missense	0			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.785G>A	17.37:g.60637441G>A	ENSP00000316512:p.Arg262Gln		D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R262Q	ENST00000326270.9	37	c.785		17	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356600	0.61293	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	T;T;T;T	0.66460	-0.16;-0.21;-0.13;-0.21	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.70474	0.3228	N	0.26092	0.79	0.80722	D	1	D;B;B;B	0.89917	1.0;0.369;0.031;0.135	D;B;B;B	0.85130	0.997;0.074;0.016;0.012	T	0.64896	-0.6299	10	0.17369	T	0.5	.	16.8221	0.85835	0.0:0.0:1.0:0.0	.	262;230;262;262	Q86UE8;Q86UE8-3;Q86UE8-2;D3DU05	TLK2_HUMAN;.;.;.	Q	262;230;262;230	ENSP00000275780:R262Q;ENSP00000340800:R230Q;ENSP00000316512:R262Q;ENSP00000442311:R230Q	ENSP00000316512:R262Q	R	+	2	0	TLK2	57991173	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.504000	0.97986	2.516000	0.84829	0.655000	0.94253	CGA	TLK2	-	NULL	ENSG00000146872		0.358	TLK2-004	KNOWN	basic	protein_coding	TLK2	HGNC	protein_coding	OTTHUMT00000445140.1		0.00	55	0	G	NM_006852		60637441	+1			no_errors	ENST00000326270	ensembl	human	known	74_37	missense	9.68	56	6	SNP	1.000	A
TLL1	7092	genome.wustl.edu	37	4	166946529	166946529	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:166946529C>T	ENST00000061240.2	+	9	1751	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G	TLL1_ENST00000507499.1_Silent_p.G368G|TLL1_ENST00000513213.1_Silent_p.G368G	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	368	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTCCCAATGGCTACCCTTCTT	0.393																																																	0													106.0	108.0	108.0					4																	166946529		2203	4300	6503	SO:0001819	synonymous_variant	0			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1104C>T	4.37:g.166946529C>T			B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A	p.G368	ENST00000061240.2	37	c.1104	CCDS3811.1	4																																																																																			TLL1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom	ENSG00000038295		0.393	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	-	0.00	64	0	C			166946529	+1	tier1	-	no_errors	ENST00000061240	ensembl	human	known	74_37	silent	32.81	43	21	SNP	1.000	T
TLR4	7099	genome.wustl.edu	37	9	120476462	120476462	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:120476462G>T	ENST00000355622.6	+	3	2157	c.2056G>T	c.(2056-2058)Gac>Tac	p.D686Y	TLR4_ENST00000394487.4_Missense_Mutation_p.D646Y|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	686	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CCAGGATGAGGACTGGGTAAG	0.438																																																	0													109.0	100.0	103.0					9																	120476462		2203	4300	6503	SO:0001583	missense	0			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2056G>T	9.37:g.120476462G>T	ENSP00000363089:p.Asp686Tyr		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.D686Y	ENST00000355622.6	37	c.2056	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413039	0.62511	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.09255	3.0;3.0	6.03	5.13	0.70059	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.092388	0.52532	D	0.000079	T	0.23171	0.0560	L	0.42245	1.32	0.38097	D	0.937145	D	0.63880	0.993	D	0.70016	0.967	T	0.02668	-1.1126	10	0.52906	T	0.07	.	11.2224	0.48864	0.1389:0.0:0.8611:0.0	.	686	O00206	TLR4_HUMAN	Y	646;686	ENSP00000377997:D646Y;ENSP00000363089:D686Y	ENSP00000363089:D686Y	D	+	1	0	TLR4	119516283	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.996000	0.57009	1.558000	0.49541	0.655000	0.94253	GAC	TLR4	-	pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom	ENSG00000136869		0.438	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	-	0.00	66	0	G	NM_138554		120476462	+1	tier1	-	no_errors	ENST00000355622	ensembl	human	known	74_37	missense	35.00	52	28	SNP	0.990	T
TM6SF1	53346	genome.wustl.edu	37	15	83805312	83805312	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:83805312delT	ENST00000322019.9	+	10	1275	c.1001delT	c.(1000-1002)cttfs	p.L334fs	TM6SF1_ENST00000379390.6_3'UTR|TM6SF1_ENST00000565774.1_Frame_Shift_Del_p.L303fs|TM6SF1_ENST00000379386.4_Frame_Shift_Del_p.L337fs			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	334						integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GCAAAAATCCTTTTTTTAGCA	0.368																																																	0													115.0	114.0	114.0					15																	83805312		2203	4300	6503	SO:0001589	frameshift_variant	0			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.1001delT	15.37:g.83805312delT	ENSP00000317000:p.Leu334fs		A8K7T5|H3BU56|Q4U0U5	Frame_Shift_Del	DEL	pfam_Transmembrane_6/97	p.L339fs	ENST00000322019.9	37	c.1010	CCDS10323.1	15																																																																																			TM6SF1	-	pfam_Transmembrane_6/97	ENSG00000136404		0.368	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TM6SF1	HGNC	protein_coding	OTTHUMT00000304009.1		0.00	33	0	T	NM_023003		83805312	+1	tier1		no_errors	ENST00000379386	ensembl	human	known	74_37	frame_shift_del	37.50	20	12	DEL	0.172	-
TM7SF3	51768	genome.wustl.edu	37	12	27127036	27127037	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:27127036_27127037delCT	ENST00000343028.4	-	12	1799_1800	c.1574_1575delAG	c.(1573-1575)gagfs	p.E525fs	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	525						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TCACTCGGCGCTCTCTCTCTTG	0.505																																																	0																																										SO:0001589	frameshift_variant	0			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1574_1575delAG	12.37:g.27127044_27127045delCT	ENSP00000342322:p.Glu525fs		B3KMZ3|Q9NUS4	Frame_Shift_Del	DEL	NULL	p.E525fs	ENST00000343028.4	37	c.1575_1574	CCDS8710.1	12																																																																																			TM7SF3	-	NULL	ENSG00000064115		0.505	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF3	HGNC	protein_coding	OTTHUMT00000403033.1		0.00	101	0	CT	NM_016551		27127037	-1	tier1		no_errors	ENST00000343028	ensembl	human	known	74_37	frame_shift_del	21.47	139	38	DEL	0.999:1.000	-
TM7SF3	51768	genome.wustl.edu	37	12	27152717	27152717	+	Intron	DEL	A	A	-	rs369163710		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:27152717delA	ENST00000343028.4	-	3	472				TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					AAACAAATAGAAAAAAAAAAC	0.343																																																	0																																										SO:0001627	intron_variant	0			AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.247-108T>-	12.37:g.27152717delA			B3KMZ3|Q9NUS4	RNA	DEL	-	NULL	ENST00000343028.4	37	NULL	CCDS8710.1	12																																																																																			TM7SF3	-	-	ENSG00000064115		0.343	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF3	HGNC	protein_coding	OTTHUMT00000403033.1		0.00	22	0	A	NM_016551		27152717	-1	tier1		no_errors	ENST00000539399	ensembl	human	known	74_37	rna	65.38	9	17	DEL	0.000	-
TM9SF2	9375	genome.wustl.edu	37	13	100181733	100181735	+	In_Frame_Del	DEL	AAG	AAG	-	rs148671822		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:100181733_100181735delAAG	ENST00000376387.4	+	4	536_538	c.346_348delAAG	c.(346-348)aagdel	p.K117del	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	117					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					TACGTTTAATAAGAAGGAGACCT	0.31																																																	0																																										SO:0001651	inframe_deletion	0			U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.346_348delAAG	13.37:g.100181736_100181738delAAG	ENSP00000365567:p.Lys117del		A8K399|Q2TAY5	In_Frame_Del	DEL	pfam_EMP70	p.K117in_frame_del	ENST00000376387.4	37	c.346_348	CCDS9493.1	13																																																																																			TM9SF2	-	pfam_EMP70	ENSG00000125304		0.310	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF2	HGNC	protein_coding	OTTHUMT00000045602.3		0.00	69	0	AAG			100181735	+1	tier1		no_errors	ENST00000376387	ensembl	human	known	74_37	in_frame_del	22.90	101	30	DEL	1.000:1.000:0.993	-
TMA16	55319	genome.wustl.edu	37	4	164435265	164435265	+	Frame_Shift_Del	DEL	A	A	-	rs2304802	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:164435265delA	ENST00000358572.5	+	4	535	c.194delA	c.(193-195)caafs	p.Q65fs	TMA16_ENST00000508268.1_Frame_Shift_Del_p.Q65fs|TMA16_ENST00000511562.1_3'UTR|TMA16_ENST00000513272.1_Frame_Shift_Del_p.Q65fs|TMA16_ENST00000513134.1_Frame_Shift_Del_p.Q65fs	NM_018352.2	NP_060822.2	Q96EY4	TMA16_HUMAN	translation machinery associated 16 homolog (S. cerevisiae)	65			Q -> P (in dbSNP:rs2304802). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.			nucleus (GO:0005634)		p.Q65P(2)									CTTGATCCCCAAAAAAAGAGA	0.358																																																	2	Substitution - Missense(2)	prostate(1)|stomach(1)											95.0	86.0	89.0					4																	164435265		1826	4074	5900	SO:0001589	frameshift_variant	0				CCDS43278.1	4q32.3	2012-03-02	2012-03-02	2012-03-02	ENSG00000198498	ENSG00000198498			25638	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 43"""	C4orf43		12477932	Standard	NM_018352		Approved	FLJ11184	uc003iqq.4	Q96EY4	OTTHUMG00000161528	ENST00000358572.5:c.194delA	4.37:g.164435265delA	ENSP00000351380:p.Gln65fs		Q0P6E4|Q0P6J1|Q9NUR7	Frame_Shift_Del	DEL	pfam_Tma16	p.K67fs	ENST00000358572.5	37	c.194	CCDS43278.1	4																																																																																			TMA16	-	pfam_Tma16	ENSG00000198498		0.358	TMA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMA16	HGNC	protein_coding	OTTHUMT00000365208.1		0.00	52	0	A	NM_018352		164435265	+1	tier1		no_errors	ENST00000358572	ensembl	human	known	74_37	frame_shift_del	31.91	32	15	DEL	0.343	-
TMBIM4	51643	genome.wustl.edu	37	12	66531937	66531937	+	Frame_Shift_Del	DEL	A	A	-	rs199863727	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:66531937delA	ENST00000358230.3	-	7	640	c.520delT	c.(520-522)tatfs	p.Y174fs	TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000398033.4_Frame_Shift_Del_p.F158fs|TMBIM4_ENST00000286424.7_Frame_Shift_Del_p.Y221fs|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000542724.1_Frame_Shift_Del_p.Y143fs	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	174					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ATCTCACTATAAAAAAAAAAC	0.353																																																	0										30,27,3421		0,0,30,0,27,1682	40.0	38.0	38.0			6.2	0.1	12		41	61,77,7666		0,0,61,0,77,3764	no	codingComplex	TMBIM4	NM_016056.2		0,0,91,0,104,5446	A1A1,A1A2,A1R,A2A2,A2R,RR		1.7683,1.6389,1.7284			66531937	91,104,11087	1806	4076	5882	SO:0001589	frameshift_variant	0			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.520delT	12.37:g.66531937delA	ENSP00000350965:p.Tyr174fs		Q542Z6|Q9UHY5|Q9Y3C2	Frame_Shift_Del	DEL	pfam_Bax_inhibitor_1-related	p.Y174fs	ENST00000358230.3	37	c.520	CCDS41805.1	12																																																																																			TMBIM4	-	pfam_Bax_inhibitor_1-related	ENSG00000155957		0.353	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMBIM4	HGNC	protein_coding	OTTHUMT00000401832.2		0.00	17	0	A	NM_016056		66531937	-1	tier1		no_errors	ENST00000358230	ensembl	human	known	74_37	frame_shift_del	73.68	5	14	DEL	0.028	-
TMC3	342125	genome.wustl.edu	37	15	81636316	81636316	+	Missense_Mutation	SNP	C	C	T	rs371581223		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:81636316C>T	ENST00000359440.5	-	14	1724	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559277.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.R531Q|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.R530Q(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GAAAAGTCCTCGGAAGAAGTC	0.488																																																	1	Substitution - Missense(1)	endometrium(1)						C	GLN/ARG	1,4021		0,1,2010	78.0	76.0	76.0		1589	5.5	1.0	15		76	0,8378		0,0,4189	no	missense	TMC3	NM_001080532.1	43	0,1,6199	TT,TC,CC		0.0,0.0249,0.0081	probably-damaging	530/1101	81636316	1,12399	2011	4189	6200	SO:0001583	missense	0			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1589G>A	15.37:g.81636316C>T	ENSP00000352413:p.Arg530Gln			Missense_Mutation	SNP	pfam_TMC	p.R530Q	ENST00000359440.5	37	c.1589	CCDS45324.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.784677	0.96937	2.49E-4	0.0	ENSG00000188869	ENST00000359440	T	0.69685	-0.42	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.81113	0.4755	M	0.64676	1.99	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82263	-0.0544	10	0.72032	D	0.01	-13.5956	19.3572	0.94420	0.0:1.0:0.0:0.0	.	530;530	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	Q	530	ENSP00000352413:R530Q	ENSP00000352413:R530Q	R	-	2	0	TMC3	79423371	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	7.456000	0.80751	2.552000	0.86080	0.585000	0.79938	CGA	TMC3	-	pfam_TMC	ENSG00000188869		0.488	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	-	0.00	25	0	C	NM_181841		81636316	-1	tier1	-	no_errors	ENST00000359440	ensembl	human	known	74_37	missense	27.59	21	8	SNP	1.000	T
TMCO2	127391	genome.wustl.edu	37	1	40717178	40717178	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:40717178C>T	ENST00000372766.3	+	2	554	c.461C>T	c.(460-462)aCg>aTg	p.T154M	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	154						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			AAACCTGCCACGAAGAGGGAT	0.458																																																	0													68.0	70.0	69.0					1																	40717178		2203	4300	6503	SO:0001583	missense	0			AL050341	CCDS30684.1	1p34.2	2014-02-12			ENSG00000188800	ENSG00000188800			23312	protein-coding gene	gene with protein product							Standard	NM_001008740		Approved	dJ39G22.2	uc001cfe.2	Q7Z6W1	OTTHUMG00000005764	ENST00000372766.3:c.461C>T	1.37:g.40717178C>T	ENSP00000361852:p.Thr154Met			Missense_Mutation	SNP	NULL	p.T154M	ENST00000372766.3	37	c.461	CCDS30684.1	1	.	.	.	.	.	.	.	.	.	.	C	0.469	-0.885186	0.02511	.	.	ENSG00000188800	ENST00000372766	.	.	.	4.25	-1.34	0.09143	.	1.121610	0.06662	N	0.764725	T	0.17831	0.0428	N	0.14661	0.345	0.09310	N	1	B	0.32893	0.389	B	0.18871	0.023	T	0.15809	-1.0424	9	0.34782	T	0.22	5.4686	7.8607	0.29507	0.0:0.4687:0.0:0.5313	.	154	Q7Z6W1	TMCO2_HUMAN	M	154	.	ENSP00000361852:T154M	T	+	2	0	TMCO2	40489765	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-3.497000	0.00451	-0.214000	0.10078	0.650000	0.86243	ACG	TMCO2	-	NULL	ENSG00000188800		0.458	TMCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO2	HGNC	protein_coding	OTTHUMT00000015769.1	-	0.00	8	0	C	NM_001008740		40717178	+1	tier1	-	no_errors	ENST00000372766	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.000	T
TMEM119	338773	genome.wustl.edu	37	12	108985490	108985490	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:108985490C>T	ENST00000392806.3	-	2	838	c.670G>A	c.(670-672)Gtc>Atc	p.V224I		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	224					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						TCCACTGGGACCCCATGTCCC	0.687																																																	0													70.0	61.0	64.0					12																	108985490		2203	4300	6503	SO:0001583	missense	0			AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.670G>A	12.37:g.108985490C>T	ENSP00000376553:p.Val224Ile		Q6UXE5|Q8N2F5	Missense_Mutation	SNP	NULL	p.V224I	ENST00000392806.3	37	c.670	CCDS9119.1	12	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403757	0.25291	.	.	ENSG00000183160	ENST00000392806;ENST00000433191	T	0.51071	0.72	4.36	-1.6	0.08426	.	2.049030	0.02379	N	0.078662	T	0.35740	0.0942	L	0.36672	1.1	0.09310	N	1	B	0.24368	0.102	B	0.21917	0.037	T	0.10428	-1.0630	10	0.26408	T	0.33	-3.0212	5.3187	0.15870	0.0:0.4416:0.1455:0.4129	.	224	Q4V9L6	TM119_HUMAN	I	224;158	ENSP00000376553:V224I	ENSP00000376553:V224I	V	-	1	0	TMEM119	107509619	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.107000	0.15375	-0.140000	0.11394	0.407000	0.27541	GTC	TMEM119	-	NULL	ENSG00000183160		0.687	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM119	HGNC	protein_coding	OTTHUMT00000403900.1	-	0.00	57	0	C	NM_181724		108985490	-1	tier1	-	no_errors	ENST00000392806	ensembl	human	known	74_37	missense	38.00	31	19	SNP	0.000	T
TMEM116	89894	genome.wustl.edu	37	12	112450930	112450930	+	5'UTR	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:112450930G>A	ENST00000354825.3	-	0	5				TMEM116_ENST00000550831.3_5'Flank|TMEM116_ENST00000549537.2_5'UTR|ERP29_ENST00000261735.3_5'Flank|ERP29_ENST00000455836.1_5'Flank|TMEM116_ENST00000355445.3_5'UTR|TMEM116_ENST00000437003.2_5'Flank|TMEM116_ENST00000552374.2_5'Flank|TMEM116_ENST00000552839.2_5'UTR			Q8NCL8	TM116_HUMAN	transmembrane protein 116							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						GTCCCCATGCGCACTTGGCGC	0.617																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK074648	CCDS9157.1, CCDS55886.1, CCDS55887.1	12q24.13	2012-03-02			ENSG00000198270	ENSG00000198270			25084	protein-coding gene	gene with protein product						12477932	Standard	NM_001193453		Approved	FLJ90167	uc001ttd.2	Q8NCL8	OTTHUMG00000169606	ENST00000354825.3:c.-651C>T	12.37:g.112450930G>A			G3V1W7|G5E985|Q6NSH5|Q8IZ66	RNA	SNP	-	NULL	ENST00000354825.3	37	NULL	CCDS9157.1	12																																																																																			TMEM116	-	-	ENSG00000198270		0.617	TMEM116-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM116	HGNC	protein_coding		-	0.00	39	0	G	NM_138341		112450930	-1	tier1	-	no_errors	ENST00000552839	ensembl	human	known	74_37	rna	51.52	16	17	SNP	0.000	A
TMEM132A	54972	genome.wustl.edu	37	11	60704054	60704054	+	Missense_Mutation	SNP	C	C	T	rs372456749		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:60704054C>T	ENST00000453848.2	+	11	2905	c.2747C>T	c.(2746-2748)cCg>cTg	p.P916L	TMEM132A_ENST00000005286.4_Missense_Mutation_p.P917L			Q24JP5	T132A_HUMAN	transmembrane protein 132A	916	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TCCCCTGGCCCGCCCAAGGGG	0.721													C|||	1	0.000199681	0.0008	0.0	5008	,	,		12253	0.0		0.0	False		,,,				2504	0.0																0								C	LEU/PRO,LEU/PRO	0,4384		0,0,2192	11.0	15.0	14.0		2747,2750	-4.0	0.0	11		14	1,8573		0,1,4286	no	missense,missense	TMEM132A	NM_178031.2,NM_017870.3	98,98	0,1,6478	TT,TC,CC		0.0117,0.0,0.0077	benign,benign	916/1024,917/1025	60704054	1,12957	2192	4287	6479	SO:0001583	missense	0			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2747C>T	11.37:g.60704054C>T	ENSP00000405823:p.Pro916Leu		Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	NULL	p.P917L	ENST00000453848.2	37	c.2750	CCDS44618.1	11	.	.	.	.	.	.	.	.	.	.	C	0.070	-1.203725	0.01581	0.0	1.17E-4	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.05717	3.4;3.4	4.64	-4.01	0.04045	.	0.587686	0.15469	N	0.260696	T	0.04137	0.0115	N	0.16478	0.41	0.09310	N	1	B;B	0.18013	0.025;0.025	B;B	0.12156	0.007;0.007	T	0.23762	-1.0179	10	0.87932	D	0	-1.8011	12.6251	0.56626	0.0:0.5246:0.0:0.4754	.	916;917	Q24JP5;Q24JP5-2	T132A_HUMAN;.	L	667;916;917	ENSP00000405823:P916L;ENSP00000005286:P917L	ENSP00000005286:P917L	P	+	2	0	TMEM132A	60460630	0.000000	0.05858	0.000000	0.03702	0.371000	0.29859	-0.080000	0.11339	-1.372000	0.02137	-1.851000	0.00568	CCG	TMEM132A	-	NULL	ENSG00000006118		0.721	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	HGNC	protein_coding	OTTHUMT00000396352.1	-	0.00	22	0	C	NM_017870		60704054	+1	tier1	-	no_errors	ENST00000005286	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.000	T
TMEM132B	114795	genome.wustl.edu	37	12	126138151	126138151	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:126138151C>T	ENST00000299308.3	+	9	2140	c.2132C>T	c.(2131-2133)tCg>tTg	p.S711L	TMEM132B_ENST00000535886.1_Missense_Mutation_p.S223L	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	711						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGTGATGGTTCGGTGACACCT	0.373																																																	0													111.0	107.0	108.0					12																	126138151		1892	4108	6000	SO:0001583	missense	0			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2132C>T	12.37:g.126138151C>T	ENSP00000299308:p.Ser711Leu		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.S711L	ENST00000299308.3	37	c.2132	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913847	0.52439	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.14640	2.49;2.49	5.55	5.55	0.83447	.	0.321128	0.27298	N	0.020004	T	0.20861	0.0502	M	0.75085	2.285	0.54753	D	0.999988	P	0.45240	0.854	B	0.37144	0.242	T	0.05632	-1.0873	10	0.59425	D	0.04	.	19.5008	0.95093	0.0:1.0:0.0:0.0	.	711	Q14DG7	T132B_HUMAN	L	711;223	ENSP00000299308:S711L;ENSP00000440436:S223L	ENSP00000299308:S711L	S	+	2	0	TMEM132B	124704104	0.998000	0.40836	0.131000	0.22000	0.993000	0.82548	5.789000	0.69029	2.612000	0.88384	0.655000	0.94253	TCG	TMEM132B	-	NULL	ENSG00000139364		0.373	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	-	0.00	69	0	C	NM_052907		126138151	+1	tier1	-	no_errors	ENST00000299308	ensembl	human	known	74_37	missense	38.36	44	28	SNP	0.856	T
TMEM132C	92293	genome.wustl.edu	37	12	128899735	128899735	+	Missense_Mutation	SNP	C	C	T	rs555941595	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:128899735C>T	ENST00000435159.2	+	2	544	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	182						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						CAGAGAGGTGCGGGGCAGCTG	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		15195	0.002		0.0	False		,,,				2504	0.0																0													12.0	16.0	15.0					12																	128899735		692	1591	2283	SO:0001583	missense	0			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.544C>T	12.37:g.128899735C>T	ENSP00000410852:p.Arg182Trp		Q69YX8	Missense_Mutation	SNP	NULL	p.R182W	ENST00000435159.2	37	c.544		12	.	.	.	.	.	.	.	.	.	.	C	17.78	3.474292	0.63737	.	.	ENSG00000181234	ENST00000435159	T	0.15487	2.42	5.0	-8.59	0.00893	.	.	.	.	.	T	0.39963	0.1098	M	0.70595	2.14	0.22762	N	0.998767	D	0.89917	1.0	D	0.73708	0.981	T	0.58578	-0.7612	9	0.72032	D	0.01	.	22.9661	0.99978	0.79:0.21:0.0:0.0	.	182	Q8N3T6	T132C_HUMAN	W	182	ENSP00000410852:R182W	ENSP00000410852:R182W	R	+	1	2	TMEM132C	127465688	0.014000	0.17966	0.407000	0.26434	0.981000	0.71138	-0.093000	0.11111	-1.158000	0.02811	-0.262000	0.10625	CGG	TMEM132C	-	NULL	ENSG00000181234		0.642	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		-	0.00	45	0	C	XM_044062		128899735	+1	tier1	-	no_errors	ENST00000435159	ensembl	human	known	74_37	missense	48.48	17	16	SNP	0.030	T
TMEM14C	51522	genome.wustl.edu	37	6	10731012	10731012	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:10731012delA	ENST00000541412.1	+	0	837				TMEM14C_ENST00000229563.5_3'UTR|TMEM14C_ENST00000467415.1_3'UTR	NM_001165258.1	NP_001158730.1	Q9P0S9	TM14C_HUMAN	transmembrane protein 14C						heme biosynthetic process (GO:0006783)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(2)|lung(3)	5	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	Epithelial(50;0.246)			CATTTTACCTAAAAAAAAAGA	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF151028	CCDS4514.1	6p24.1	2008-02-26	2004-04-16	2004-04-21	ENSG00000111843	ENSG00000111843			20952	protein-coding gene	gene with protein product		615318	"""chromosome 6 open reading frame 53"""	C6orf53		11042152, 12958361	Standard	NM_016462		Approved	HSPC194, bA421M1.6, NET26	uc021ylj.1	Q9P0S9	OTTHUMG00000014242	ENST00000541412.1:c.*113A>-	6.37:g.10731012delA			Q5T4I6	RNA	DEL	-	NULL	ENST00000541412.1	37	NULL	CCDS4514.1	6																																																																																			TMEM14C	-	-	ENSG00000111843		0.353	TMEM14C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM14C	HGNC	protein_coding	OTTHUMT00000039829.1		0.00	14	0	A	NM_016462		10731012	+1	tier1		no_errors	ENST00000467415	ensembl	human	known	74_37	rna	27.27	8	3	DEL	0.000	-
TMEM180	79847	genome.wustl.edu	37	10	104235656	104235656	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:104235656C>T	ENST00000238936.4	+	10	1706	c.1469C>T	c.(1468-1470)aCg>aTg	p.T490M	TMEM180_ENST00000366277.2_Missense_Mutation_p.T219M	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	490						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCCCAGTTCACGCTGCATGGG	0.622																																																	0													36.0	31.0	33.0					10																	104235656		2203	4300	6503	SO:0001583	missense	0			AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.1469C>T	10.37:g.104235656C>T	ENSP00000238936:p.Thr490Met		Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.T490M	ENST00000238936.4	37	c.1469	CCDS7535.1	10	.	.	.	.	.	.	.	.	.	.	c	17.70	3.454103	0.63290	.	.	ENSG00000138111	ENST00000366277;ENST00000238936;ENST00000369930	.	.	.	4.82	4.82	0.62117	.	0.094859	0.64402	D	0.000001	T	0.75845	0.3905	M	0.67953	2.075	0.47341	D	0.999392	D	0.89917	1.0	D	0.68483	0.958	T	0.77330	-0.2628	9	0.52906	T	0.07	.	14.9649	0.71184	0.0:0.8464:0.1536:0.0	.	490	Q14CX5	TM180_HUMAN	M	219;490;219	.	ENSP00000238936:T490M	T	+	2	0	TMEM180	104225646	0.997000	0.39634	0.966000	0.40874	0.758000	0.43043	3.305000	0.51873	2.406000	0.81754	0.306000	0.20318	ACG	TMEM180	-	NULL	ENSG00000138111		0.622	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM180	HGNC	protein_coding	OTTHUMT00000050075.2	-	0.00	49	0	C	NM_024789		104235656	+1	tier1	-	no_errors	ENST00000238936	ensembl	human	known	74_37	missense	38.24	21	13	SNP	0.993	T
TMEM201	199953	genome.wustl.edu	37	1	9670669	9670669	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:9670669G>A	ENST00000340381.6	+	9	1580	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	TMEM201_ENST00000377376.4_Missense_Mutation_p.R500H	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	524					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CTGCGCCACCGCAGGCCCCTC	0.701																																																	0													20.0	24.0	22.0					1																	9670669		692	1591	2283	SO:0001583	missense	0				CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.1571G>A	1.37:g.9670669G>A	ENSP00000344503:p.Arg524His		B9EH90|Q5SNT3	Missense_Mutation	SNP	pfam_DUF2448,pfam_Ima1_N	p.R524H	ENST00000340381.6	37	c.1571	CCDS44055.2	1	.	.	.	.	.	.	.	.	.	.	G	33	5.276329	0.95459	.	.	ENSG00000188807	ENST00000377376;ENST00000340381	.	.	.	5.19	5.19	0.71726	.	0.127978	0.53938	D	0.000051	T	0.67730	0.2924	L	0.34521	1.04	0.51482	D	0.99992	D	0.89917	1.0	D	0.87578	0.998	T	0.71062	-0.4701	9	0.72032	D	0.01	-42.7995	16.8948	0.86097	0.0:0.0:1.0:0.0	.	500	E9PBR6	.	H	500;524	.	ENSP00000344503:R524H	R	+	2	0	TMEM201	9593256	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.999000	0.93557	2.423000	0.82170	0.561000	0.74099	CGC	TMEM201	-	NULL	ENSG00000188807		0.701	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM201	HGNC	protein_coding	OTTHUMT00000127672.1	-	0.00	28	0	G	NM_001010866		9670669	+1	tier1	-	no_errors	ENST00000340381	ensembl	human	known	74_37	missense	46.15	14	12	SNP	1.000	A
TMEM200B	399474	genome.wustl.edu	37	1	29447499	29447499	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:29447499C>T	ENST00000420504.2	-	2	999	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	TMEM200B_ENST00000521452.1_Missense_Mutation_p.R281Q	NM_001171868.1	NP_001165339.1	Q69YZ2	T200B_HUMAN	transmembrane protein 200B	281						integral component of membrane (GO:0016021)				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		TGGCCAGCTTCGGTGAGCACA	0.642																																																	0													21.0	23.0	22.0					1																	29447499		2203	4300	6503	SO:0001583	missense	0				CCDS30658.1	1p35	2007-12-18			ENSG00000253304	ENSG00000253304			33785	protein-coding gene	gene with protein product						15722956	Standard	NM_001003682		Approved	TTMB	uc001brn.2	Q69YZ2	OTTHUMG00000003658	ENST00000420504.2:c.842G>A	1.37:g.29447499C>T	ENSP00000428544:p.Arg281Gln		Q6P2G8|Q6P2Q5	Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.R281Q	ENST00000420504.2	37	c.842	CCDS30658.1	1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916115	0.92178	.	.	ENSG00000253304	ENST00000521452;ENST00000420504	.	.	.	4.26	4.26	0.50523	.	0.000000	0.36234	U	0.002718	T	0.54175	0.1842	N	0.19112	0.55	0.35186	D	0.772954	D	0.76494	0.999	P	0.61132	0.884	T	0.68025	-0.5518	9	0.87932	D	0	.	14.3489	0.66685	0.0:1.0:0.0:0.0	.	281	Q69YZ2	T200B_HUMAN	Q	281	.	ENSP00000428544:R281Q	R	-	2	0	TMEM200B	29320086	0.819000	0.29175	1.000000	0.80357	0.989000	0.77384	1.248000	0.32827	2.348000	0.79779	0.655000	0.94253	CGA	TMEM200B	-	NULL	ENSG00000253304		0.642	TMEM200B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM200B	HGNC	protein_coding	OTTHUMT00000010377.2	-	0.00	42	0	C	NM_001003682		29447499	-1	tier1	-	no_errors	ENST00000420504	ensembl	human	known	74_37	missense	15.62	27	5	SNP	1.000	T
TMEM241	85019	genome.wustl.edu	37	18	20932195	20932195	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:20932195G>T	ENST00000383233.3	-	13	782	c.730C>A	c.(730-732)Cca>Aca	p.P244T	TMEM241_ENST00000542162.1_3'UTR|TMEM241_ENST00000450466.2_Missense_Mutation_p.P123T	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241	244						integral component of membrane (GO:0016021)											CACTGCCCTGGGGCCAGAAGG	0.448																																																	0													100.0	98.0	98.0					18																	20932195		1851	4100	5951	SO:0001583	missense	0			BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"""chromosome 18 open reading frame 45"""	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.730C>A	18.37:g.20932195G>T	ENSP00000372720:p.Pro244Thr		I0J130|Q6ZTS7|Q6ZW41	Missense_Mutation	SNP	NULL	p.P244T	ENST00000383233.3	37	c.730	CCDS11876.2	18	.	.	.	.	.	.	.	.	.	.	G	10.32	1.317479	0.23908	.	.	ENSG00000134490	ENST00000450466;ENST00000383233	T;T	0.69806	0.78;-0.43	5.48	4.58	0.56647	.	0.513127	0.14003	U	0.347965	T	0.52191	0.1719	L	0.27053	0.805	0.80722	D	1	B	0.33583	0.418	B	0.27796	0.083	T	0.57335	-0.7829	10	0.66056	D	0.02	-19.0497	12.4526	0.55684	0.0:0.1669:0.8331:0.0	.	244	Q24JQ0	CR045_HUMAN	T	123;244	ENSP00000414899:P123T;ENSP00000372720:P244T	ENSP00000372720:P244T	P	-	1	0	C18orf45	19186193	1.000000	0.71417	0.995000	0.50966	0.093000	0.18481	2.835000	0.48175	2.575000	0.86900	0.655000	0.94253	CCA	TMEM241	-	NULL	ENSG00000134490		0.448	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM241	HGNC	protein_coding	OTTHUMT00000254702.3	-	0.00	61	0	G	NM_032933		20932195	-1	tier1	-	no_errors	ENST00000383233	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.998	T
TMEM254	80195	genome.wustl.edu	37	10	81850737	81850737	+	3'UTR	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:81850737G>T	ENST00000372281.3	+	0	466				TMEM254_ENST00000372275.1_3'UTR|TMEM254_ENST00000467529.1_3'UTR	NM_001270372.1|NM_025125.3	NP_001257301.1|NP_079401.2	Q8TBM7	TM254_HUMAN	transmembrane protein 254							integral component of membrane (GO:0016021)											GTGGGGTAGAGGAGGTGCAGT	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC022252	CCDS7363.1, CCDS58086.1, CCDS58087.1, CCDS73157.1	10q23.1	2012-11-06	2012-11-06	2012-11-06	ENSG00000133678	ENSG00000133678			25804	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 57"""	C10orf57		14702039	Standard	NM_025125		Approved	FLJ13263, bA369J21.6	uc010qlw.3	Q8TBM7	OTTHUMG00000018602	ENST00000372281.3:c.*64G>T	10.37:g.81850737G>T			D3DWC8|Q53HP4|Q5JTC0|Q5JTC1|Q6IA45|Q9H8S6	RNA	SNP	-	NULL	ENST00000372281.3	37	NULL	CCDS7363.1	10																																																																																			TMEM254	-	-	ENSG00000133678		0.393	TMEM254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM254	HGNC	protein_coding	OTTHUMT00000049030.1	-	0.00	55	0	G	NM_025125		81850737	+1	tier1	-	no_errors	ENST00000463029	ensembl	human	known	74_37	rna	7.41	50	4	SNP	0.000	T
TMEM39A	55254	genome.wustl.edu	37	3	119176962	119176962	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:119176962delA	ENST00000319172.5	-	3	659	c.239delT	c.(238-240)ttcfs	p.F80fs	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	80						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CAGGTAGATGAAAAAAAGGAA	0.428																																																	0													144.0	145.0	145.0					3																	119176962		2203	4300	6503	SO:0001589	frameshift_variant	0			BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.239delT	3.37:g.119176962delA	ENSP00000326063:p.Phe80fs		D3DN80|Q53FN4|Q53GI1|Q6PKB5	Frame_Shift_Del	DEL	pfam_Uncharacterised_TMEM39	p.F80fs	ENST00000319172.5	37	c.239	CCDS2987.1	3																																																																																			TMEM39A	-	pfam_Uncharacterised_TMEM39	ENSG00000176142		0.428	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM39A	HGNC	protein_coding	OTTHUMT00000354941.3		0.00	15	0	A	NM_018266		119176962	-1	tier1		no_errors	ENST00000319172	ensembl	human	known	74_37	frame_shift_del	33.33	14	7	DEL	1.000	-
TMEM50A	23585	genome.wustl.edu	37	1	25667024	25667024	+	Frame_Shift_Del	DEL	G	G	-	rs147456847	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:25667024delG	ENST00000374358.4	+	2	600	c.47delG	c.(46-48)tggfs	p.W16fs	RNU6-1171P_ENST00000516706.1_RNA|TMEM50A_ENST00000480937.1_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	16						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TGCATTGACTGGGGGGAAAAG	0.378																																																	0													119.0	106.0	110.0					1																	25667024		2203	4300	6503	SO:0001589	frameshift_variant	0			AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"""small membrane protein 1"""	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651	ENST00000374358.4:c.47delG	1.37:g.25667024delG	ENSP00000363478:p.Trp16fs			Frame_Shift_Del	DEL	pfam_UPF0220	p.E18fs	ENST00000374358.4	37	c.47	CCDS264.1	1																																																																																			TMEM50A	-	pfam_UPF0220	ENSG00000183726		0.378	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM50A	HGNC	protein_coding	OTTHUMT00000020313.1		0.00	127	0	G			25667024	+1	tier1		no_errors	ENST00000374358	ensembl	human	known	74_37	frame_shift_del	33.33	90	45	DEL	1.000	-
TMEM50A	23585	genome.wustl.edu	37	1	25687244	25687244	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:25687244delT	ENST00000374358.4	+	0	1075				TMEM50A_ENST00000480937.1_3'UTR	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		GGTTTGTTTGTTTTTTTACTG	0.403																																																	0													79.0	76.0	77.0					1																	25687244		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"""small membrane protein 1"""	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651	ENST00000374358.4:c.*48T>-	1.37:g.25687244delT				RNA	DEL	-	NULL	ENST00000374358.4	37	NULL	CCDS264.1	1																																																																																			TMEM50A	-	-	ENSG00000183726		0.403	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM50A	HGNC	protein_coding	OTTHUMT00000020313.1		0.00	34	0	T			25687244	+1	tier1		no_errors	ENST00000480937	ensembl	human	known	74_37	rna	31.25	22	10	DEL	0.001	-
TMEM51	55092	genome.wustl.edu	37	1	15545853	15545853	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:15545853G>T	ENST00000428417.1	+	3	822	c.376G>T	c.(376-378)Gcc>Tcc	p.A126S	TMEM51_ENST00000376008.2_Missense_Mutation_p.A126S|TMEM51_ENST00000400796.3_Missense_Mutation_p.A126S|TMEM51_ENST00000376014.3_Missense_Mutation_p.A126S|TMEM51_ENST00000434578.2_Silent_p.L124L	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	126						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		TGAGGAGGCTGCCTCAAGGTA	0.517																																																	0													86.0	82.0	83.0					1																	15545853		2203	4300	6503	SO:0001583	missense	0			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.376G>T	1.37:g.15545853G>T	ENSP00000394899:p.Ala126Ser		A8K819	Missense_Mutation	SNP	NULL	p.A126S	ENST00000428417.1	37	c.376	CCDS154.1	1	.	.	.	.	.	.	.	.	.	.	G	8.832	0.940253	0.18281	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.63	0.0845	0.14437	.	0.740406	0.13990	N	0.348858	T	0.08133	0.0203	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30937	-0.9961	10	0.12430	T	0.62	-0.5108	1.8263	0.03121	0.2245:0.0943:0.1708:0.5104	.	126	Q9NW97	TMM51_HUMAN	S	126	ENSP00000394899:A126S;ENSP00000365182:A126S;ENSP00000383600:A126S;ENSP00000365176:A126S	ENSP00000303666:A126S	A	+	1	0	TMEM51	15418440	0.006000	0.16342	0.193000	0.23327	0.947000	0.59692	0.238000	0.18004	0.033000	0.15463	-0.324000	0.08512	GCC	TMEM51	-	NULL	ENSG00000171729		0.517	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM51	HGNC	protein_coding	OTTHUMT00000005699.3		0.00	45	0	G	NM_018022		15545853	+1			no_errors	ENST00000376008	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.017	T
TMEM51	55092	genome.wustl.edu	37	1	15546112	15546112	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:15546112A>G	ENST00000428417.1	+	3	1081	c.635A>G	c.(634-636)cAc>cGc	p.H212R	TMEM51_ENST00000376008.2_Missense_Mutation_p.H212R|TMEM51_ENST00000400796.3_Missense_Mutation_p.H212R|TMEM51_ENST00000376014.3_Missense_Mutation_p.H212R|TMEM51_ENST00000434578.2_3'UTR	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	212						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GAAAAGCTTCACCTCAAAGAC	0.512																																																	0													72.0	85.0	81.0					1																	15546112		2203	4300	6503	SO:0001583	missense	0			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.635A>G	1.37:g.15546112A>G	ENSP00000394899:p.His212Arg		A8K819	Missense_Mutation	SNP	NULL	p.H212R	ENST00000428417.1	37	c.635	CCDS154.1	1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089606	0.76756	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.53	5.53	0.82687	.	0.086055	0.85682	D	0.000000	T	0.54822	0.1882	L	0.55834	1.745	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.52064	-0.8625	10	0.39692	T	0.17	-1.4338	14.8396	0.70214	1.0:0.0:0.0:0.0	.	212	Q9NW97	TMM51_HUMAN	R	212	ENSP00000394899:H212R;ENSP00000365182:H212R;ENSP00000383600:H212R;ENSP00000365176:H212R	ENSP00000303666:H212R	H	+	2	0	TMEM51	15418699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.182000	0.71995	2.107000	0.64212	0.454000	0.30748	CAC	TMEM51	-	NULL	ENSG00000171729		0.512	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM51	HGNC	protein_coding	OTTHUMT00000005699.3	-	0.00	25	0	A	NM_018022		15546112	+1	tier1	-	no_errors	ENST00000376008	ensembl	human	known	74_37	missense	27.27	16	6	SNP	1.000	G
TMEM55A	55529	genome.wustl.edu	37	8	92008950	92008950	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:92008950G>A	ENST00000285419.3	-	6	876	c.562C>T	c.(562-564)Cca>Tca	p.P188S		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	188						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			CGTCTTCGTGGAAGTGCACTA	0.348																																																	0													63.0	56.0	59.0					8																	92008950		2203	4299	6502	SO:0001583	missense	0			BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.562C>T	8.37:g.92008950G>A	ENSP00000285419:p.Pro188Ser		B2R9H4|Q68CU2	Missense_Mutation	SNP	pfam_Transmembrane_protein_55A/B	p.P188S	ENST00000285419.3	37	c.562	CCDS6252.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.118506	0.94385	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.60239	-0.7302	9	0.25106	T	0.35	-27.3016	20.4008	0.98991	0.0:0.0:1.0:0.0	.	188	Q8N4L2	TM55A_HUMAN	S	188;194	.	ENSP00000285419:P188S	P	-	1	0	TMEM55A	92078126	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.476000	0.97823	2.826000	0.97356	0.655000	0.94253	CCA	TMEM55A	-	pfam_Transmembrane_protein_55A/B	ENSG00000155099		0.348	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM55A	HGNC	protein_coding	OTTHUMT00000376778.1	-	0.00	18	0	G	NM_018710		92008950	-1	tier1	-	no_errors	ENST00000285419	ensembl	human	known	74_37	missense	27.08	33	13	SNP	1.000	A
TMEM63C	57156	genome.wustl.edu	37	14	77685187	77685187	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:77685187delG	ENST00000298351.4	+	3	175	c.31delG	c.(31-33)gggfs	p.G12fs	RP11-463C8.4_ENST00000557752.1_3'UTR	NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	12					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CCTGAGTACAGGGGGAAGGTT	0.567																																																	0													52.0	58.0	56.0					14																	77685187		2025	4201	6226	SO:0001589	frameshift_variant	0				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.31delG	14.37:g.77685187delG	ENSP00000298351:p.Gly12fs		B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Frame_Shift_Del	DEL	pfam_DUF221	p.G12fs	ENST00000298351.4	37	c.31	CCDS45141.1	14																																																																																			TMEM63C	-	NULL	ENSG00000165548		0.567	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63C	HGNC	protein_coding	OTTHUMT00000414193.1		0.00	62	0	G			77685187	+1	tier1		no_errors	ENST00000298351	ensembl	human	known	74_37	frame_shift_del	35.56	29	16	DEL	0.000	-
TMEM70	54968	genome.wustl.edu	37	8	74891018	74891018	+	Nonsense_Mutation	SNP	C	C	T	rs387907070		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:74891018C>T	ENST00000312184.5	+	2	311	c.238C>T	c.(238-240)Cga>Tga	p.R80*	TMEM70_ENST00000517439.1_Nonsense_Mutation_p.R80*|Y_RNA_ENST00000365350.1_RNA	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	80					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			AGGATATGTTCGATTCTTAAA	0.363																																																	0													135.0	141.0	139.0					8																	74891018		2203	4300	6503	SO:0001587	stop_gained	0			BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.238C>T	8.37:g.74891018C>T	ENSP00000312599:p.Arg80*		E9PDY9|Q9NWY5	Nonsense_Mutation	SNP	pfam_DUF1301_TMEM70	p.R80*	ENST00000312184.5	37	c.238	CCDS6215.1	8	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876478	0.51801	.	.	ENSG00000175606	ENST00000517439;ENST00000312184	.	.	.	4.71	2.88	0.33553	.	0.412070	0.22413	N	0.060384	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0888	9.7319	0.40366	0.0:0.7659:0.0:0.2341	.	.	.	.	X	80	.	ENSP00000312599:R80X	R	+	1	2	TMEM70	75053572	0.968000	0.33430	0.484000	0.27391	0.157000	0.22087	0.909000	0.28558	0.683000	0.31428	0.651000	0.88453	CGA	TMEM70	-	NULL	ENSG00000175606		0.363	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM70	HGNC	protein_coding	OTTHUMT00000379028.1	-	0.00	80	0	C	NM_017866		74891018	+1	tier1	-	no_errors	ENST00000312184	ensembl	human	known	74_37	nonsense	28.10	87	34	SNP	0.599	T
TMEM87B	84910	genome.wustl.edu	37	2	112824589	112824590	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:112824589_112824590insA	ENST00000283206.4	+	4	764_765	c.395_396insA	c.(394-399)acaaaafs	p.TK132fs		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	132						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TGTTGGACAACAAAAAATGAAA	0.322																																																	0																																										SO:0001589	frameshift_variant	0			AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.401dupA	2.37:g.112824595_112824595dupA	ENSP00000283206:p.Thr132fs		A8K2M9|Q1RLN2|Q53R54	Frame_Shift_Ins	INS	pfam_TM_rcpt_euk	p.N134fs	ENST00000283206.4	37	c.395_396	CCDS33275.1	2																																																																																			TMEM87B	-	NULL	ENSG00000153214		0.322	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM87B	HGNC	protein_coding	OTTHUMT00000330500.1		0.00	57	0	0	NM_032824		112824590	+1			no_errors	ENST00000283206	ensembl	human	known	74_37	frame_shift_ins	11.48	54	7	INS	1.000:1.000	A
TMEM8A	58986	genome.wustl.edu	37	16	427458	427458	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:427458C>T	ENST00000431232.2	-	3	587	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	TMEM8A_ENST00000250930.3_5'UTR|TMEM8A_ENST00000476735.1_5'UTR	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	143					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GAAACGTTGACGGAGGCATTG	0.682											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													21.0	22.0	21.0					16																	427458		2190	4297	6487	SO:0001583	missense	0			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.427G>A	16.37:g.427458C>T	ENSP00000401338:p.Val143Ile	588	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	pfam_DUF3522,pfscan_EG-like_dom	p.V143I	ENST00000431232.2	37	c.427	CCDS10407.1	16	.	.	.	.	.	.	.	.	.	.	C	1.948	-0.441963	0.04604	.	.	ENSG00000129925	ENST00000431232	T	0.26067	1.76	4.59	-4.28	0.03732	.	0.829267	0.10476	N	0.670175	T	0.16085	0.0387	L	0.47716	1.5	0.80722	D	1	B	0.15473	0.013	B	0.06405	0.002	T	0.30707	-0.9969	10	0.12766	T	0.61	-6.0E-4	6.6366	0.22887	0.0:0.3109:0.221:0.4681	.	143	Q9HCN3	TMM8A_HUMAN	I	143	ENSP00000401338:V143I	ENSP00000401338:V143I	V	-	1	0	TMEM8A	367459	0.000000	0.05858	0.007000	0.13788	0.043000	0.13939	-0.472000	0.06623	-0.656000	0.05380	-0.253000	0.11424	GTC	TMEM8A	-	NULL	ENSG00000129925		0.682	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMEM8A	HGNC	protein_coding	OTTHUMT00000109257.2	-	0.00	51	0	C	NM_021259		427458	-1	tier1	-	no_errors	ENST00000431232	ensembl	human	known	74_37	missense	10.64	42	5	SNP	0.001	T
TMIE	259236	genome.wustl.edu	37	3	46751073	46751073	+	Missense_Mutation	SNP	T	T	G	rs552239745|rs540703112|rs71619660|rs10578999|rs397817178|rs111033328|rs550122158|rs544504092|rs538183178|rs370899710|rs529593774	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:46751073T>G	ENST00000326431.3	+	4	521	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	122					inner ear morphogenesis (GO:0042472)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CCACAGAGGATaagaagaaga	0.512																																																	0													107.0	112.0	110.0					3																	46751073		1947	4139	6086	SO:0001583	missense	0			AY081842	CCDS43081.1	3p21	2010-01-06	2004-05-19		ENSG00000181585	ENSG00000181585			30800	protein-coding gene	gene with protein product		607237	"""deafness, autosomal recessive 6"""	DFNB6		12140191, 12145746	Standard	NM_147196		Approved		uc010hjk.1	Q8NEW7	OTTHUMG00000149909	ENST00000326431.3:c.366T>G	3.37:g.46751073T>G	ENSP00000324775:p.Asp122Glu		A0AV93|A8K0R0	Missense_Mutation	SNP	NULL	p.D122E	ENST00000326431.3	37	c.366	CCDS43081.1	3	.	.	.	.	.	.	.	.	.	.	T	13.92	2.380358	0.42207	.	.	ENSG00000181585	ENST00000326431	D	0.83837	-1.77	4.45	-8.9	0.00782	.	1.365610	0.04508	N	0.382320	T	0.56746	0.2006	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.53078	-0.8489	10	0.07482	T	0.82	-0.0274	4.5171	0.11940	0.1839:0.432:0.274:0.1101	.	122	Q8NEW7	TMIE_HUMAN	E	122	ENSP00000324775:D122E	ENSP00000324775:D122E	D	+	3	2	TMIE	46726077	0.004000	0.15560	0.020000	0.16555	0.359000	0.29487	-2.587000	0.00902	-2.830000	0.00339	0.533000	0.62120	GAT	TMIE	-	NULL	ENSG00000181585		0.512	TMIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMIE	HGNC	protein_coding	OTTHUMT00000313853.1		0.00	27	0	T	NM_147196		46751073	+1			no_errors	ENST00000326431	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.011	G
TMOD1	7111	genome.wustl.edu	37	9	100353670	100353670	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:100353670G>T	ENST00000259365.4	+	9	1181	c.968G>T	c.(967-969)gGa>gTa	p.G323V	TMOD1_ENST00000375175.1_Missense_Mutation_p.G196V|TMOD1_ENST00000395211.2_Missense_Mutation_p.G323V	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	323					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		ACCCAGCAAGGACCCCGGCTT	0.507																																																	0													97.0	94.0	95.0					9																	100353670		2203	4300	6503	SO:0001583	missense	0				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.968G>T	9.37:g.100353670G>T	ENSP00000259365:p.Gly323Val		B2RB77|Q5T7W3|Q9BUF1	Missense_Mutation	SNP	pfam_Tropomodulin	p.G323V	ENST00000259365.4	37	c.968	CCDS6726.1	9	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671998	0.88348	.	.	ENSG00000136842	ENST00000395211;ENST00000259365;ENST00000375175	D;D;D	0.93307	-3.2;-3.2;-3.2	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.97349	0.9133	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.97917	1.0312	10	0.87932	D	0	-24.3847	18.9948	0.92809	0.0:0.0:1.0:0.0	.	323	P28289	TMOD1_HUMAN	V	323;323;196	ENSP00000378637:G323V;ENSP00000259365:G323V;ENSP00000364318:G196V	ENSP00000259365:G323V	G	+	2	0	TMOD1	99393491	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.420000	0.97426	2.680000	0.91292	0.467000	0.42956	GGA	TMOD1	-	NULL	ENSG00000136842		0.507	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMOD1	HGNC	protein_coding	OTTHUMT00000053320.2	-	0.00	55	0	G	NM_003275		100353670	+1	tier1	-	no_errors	ENST00000259365	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
TMPO	7112	genome.wustl.edu	37	12	98921672	98921672	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:98921672delA	ENST00000556029.1	+	2	644	c.288delA	c.(286-288)acafs	p.T96fs	TMPO_ENST00000393053.2_Frame_Shift_Del_p.T96fs|TMPO_ENST00000261210.5_Frame_Shift_Del_p.T96fs|TMPO_ENST00000266732.4_Frame_Shift_Del_p.T96fs|TMPO_ENST00000343315.5_Frame_Shift_Del_p.T96fs	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	96	Linker.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGAAAGCCACAAAAAAAACTG	0.328																																																	0													130.0	129.0	129.0					12																	98921672		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.288delA	12.37:g.98921672delA	ENSP00000450627:p.Thr96fs		A2T926|Q14861	Frame_Shift_Del	DEL	pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom	p.T99fs	ENST00000556029.1	37	c.288	CCDS31879.1	12																																																																																			TMPO	-	NULL	ENSG00000120802		0.328	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPO	HGNC	protein_coding	OTTHUMT00000407973.2		0.00	69	0	A	NM_003276		98921672	+1	tier1		no_errors	ENST00000266732	ensembl	human	known	74_37	frame_shift_del	40.51	47	32	DEL	1.000	-
TMPO	7112	genome.wustl.edu	37	12	98927535	98927535	+	Intron	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:98927535A>T	ENST00000556029.1	+	3	921				TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000266732.4_Missense_Mutation_p.K500N|TMPO_ENST00000343315.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTATTTTAAAAGTAATTGAAG	0.403																																																	0													57.0	59.0	58.0					12																	98927535		2203	4300	6503	SO:0001627	intron_variant	0				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1919A>T	12.37:g.98927535A>T			A2T926|Q14861	Missense_Mutation	SNP	pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom	p.K500N	ENST00000556029.1	37	c.1500	CCDS31879.1	12	.	.	.	.	.	.	.	.	.	.	A	16.17	3.048491	0.55110	.	.	ENSG00000120802	ENST00000266732	T	0.61980	0.06	5.65	3.21	0.36854	.	0.291232	0.34777	N	0.003698	T	0.59266	0.2181	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	P	0.60473	0.875	T	0.58572	-0.7613	10	0.48119	T	0.1	-14.6267	7.8859	0.29651	0.8269:0.0:0.1731:0.0	.	500	P42166	LAP2A_HUMAN	N	500	ENSP00000266732:K500N	ENSP00000266732:K500N	K	+	3	2	TMPO	97451666	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.774000	0.26675	1.032000	0.39892	0.528000	0.53228	AAA	TMPO	-	pfam_LAP2alpha	ENSG00000120802		0.403	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPO	HGNC	protein_coding	OTTHUMT00000407973.2	-	0.00	27	0	A	NM_003276		98927535	+1	tier1	-	no_errors	ENST00000266732	ensembl	human	known	74_37	missense	46.81	25	22	SNP	1.000	T
TMPRSS11A	339967	genome.wustl.edu	37	4	68810346	68810346	+	Frame_Shift_Del	DEL	T	T	-	rs139010197	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:68810346delT	ENST00000334830.7	-	3	889	c.143delA	c.(142-144)aagfs	p.K48fs	TMPRSS11A_ENST00000396188.2_Frame_Shift_Del_p.K48fs|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000508048.1_Frame_Shift_Del_p.K47fs			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	48	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell cycle (GO:0007049)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.K48fs*11(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						ATAGTACTCCTTTTTTTGGTC	0.338																																					NSCLC(26;2 894 10941 14480 22546)												1	Deletion - Frameshift(1)	large_intestine(1)											96.0	93.0	94.0					4																	68810346		2203	4300	6503	SO:0001589	frameshift_variant	0			AF071882	CCDS3519.1	4q13.2	2010-04-13			ENSG00000187054	ENSG00000187054		"""Serine peptidases / Transmembrane"""	27954	protein-coding gene	gene with protein product		611704				15328353	Standard	NM_182606		Approved	ECRG1	uc003hdr.1	Q6ZMR5	OTTHUMG00000129303	ENST00000334830.7:c.143delA	4.37:g.68810346delT	ENSP00000334611:p.Lys48fs		J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8	Frame_Shift_Del	DEL	pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.K48fs	ENST00000334830.7	37	c.143	CCDS3519.1	4																																																																																			TMPRSS11A	-	pfam_SEA_dom,pirsf_Pept_S1A_HAT/DESC1	ENSG00000187054		0.338	TMPRSS11A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS11A	HGNC	protein_coding	OTTHUMT00000251433.3		0.00	75	0	T	NM_182606		68810346	-1	tier1		no_errors	ENST00000334830	ensembl	human	known	74_37	frame_shift_del	32.81	43	21	DEL	0.055	-
TNC	3371	genome.wustl.edu	37	9	117848231	117848231	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:117848231G>T	ENST00000350763.4	-	3	2190	c.1779C>A	c.(1777-1779)tcC>tcA	p.S593S	TNC_ENST00000345230.3_Silent_p.S593S|TNC_ENST00000537320.1_Silent_p.S593S|TNC_ENST00000423613.2_Silent_p.S593S|TNC_ENST00000346706.3_Silent_p.S593S|TNC_ENST00000535648.1_Silent_p.S593S|TNC_ENST00000542877.1_Silent_p.S593S|TNC_ENST00000341037.4_Silent_p.S593S|TNC_ENST00000340094.3_Silent_p.S593S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	593	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CACTGGGGCAGGAGTGCTGGC	0.622																																																	0													71.0	57.0	61.0					9																	117848231		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1779C>A	9.37:g.117848231G>T			C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.S593	ENST00000350763.4	37	c.1779	CCDS6811.1	9																																																																																			TNC	-	smart_EG-like_dom	ENSG00000041982		0.622	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	-	0.00	39	0	G	NM_002160		117848231	-1	tier1	-	no_errors	ENST00000350763	ensembl	human	known	74_37	silent	13.33	26	4	SNP	0.956	T
TNFAIP3	7128	genome.wustl.edu	37	6	138202351	138202351	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:138202351delC	ENST00000237289.4	+	9	2334	c.2268delC	c.(2266-2268)gacfs	p.D756fs		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	756	Interaction with TNIP1. {ECO:0000250}.|Required for lysosomal localization and for TRAF2 lysosomal degradation.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CCCCCGAAGACCCCCCCAAGC	0.622			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"""tumor necrosis factor, alpha-induced protein 3"""		L	25	Whole gene deletion(25)	haematopoietic_and_lymphoid_tissue(25)											48.0	57.0	54.0					6																	138202351		2203	4300	6503	SO:0001589	frameshift_variant	0			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.2268delC	6.37:g.138202351delC	ENSP00000237289:p.Asp756fs		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Frame_Shift_Del	DEL	pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.K759fs	ENST00000237289.4	37	c.2268	CCDS5187.1	6																																																																																			TNFAIP3	-	pfam_Znf_A20,smart_Znf_A20,pfscan_Znf_A20	ENSG00000118503		0.622	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP3	HGNC	protein_coding	OTTHUMT00000042414.1		0.00	60	0	C			138202351	+1	tier1		no_errors	ENST00000237289	ensembl	human	known	74_37	frame_shift_del	33.33	34	17	DEL	0.609	-
TNFRSF10A	8797	genome.wustl.edu	37	8	23054712	23054712	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:23054712C>T	ENST00000221132.3	-	9	1084	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	340					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CAGCTTCTGCCGGTCCCTGTA	0.562																																																	0																																										SO:0001819	synonymous_variant	0			U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.1020G>A	8.37:g.23054712C>T			A8K5I4|Q53Y72|Q96E62	Silent	SNP	pirsf_TNFR_10,pfam_Death_domain,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_10,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg	p.P340	ENST00000221132.3	37	c.1020	CCDS6039.1	8																																																																																			TNFRSF10A	-	pirsf_TNFR_10	ENSG00000104689		0.562	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF10A	HGNC	protein_coding	OTTHUMT00000215133.2	-	0.00	102	0	C	NM_003844		23054712	-1	tier1	-	no_errors	ENST00000221132	ensembl	human	known	74_37	silent	19.78	73	18	SNP	0.000	T
TNFRSF14	8764	genome.wustl.edu	37	1	2489215	2489215	+	Silent	SNP	G	G	A	rs150605790	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:2489215G>A	ENST00000355716.4	+	2	419	c.120G>A	c.(118-120)ccG>ccA	p.P40P	RP3-395M20.8_ENST00000452793.1_RNA|RP3-395M20.8_ENST00000416860.2_RNA|TNFRSF14_ENST00000442392.2_3'UTR|TNFRSF14_ENST00000409119.1_Silent_p.P40P	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	40					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		CAGCTCTGCCGTCCTGCAAGG	0.667			"""Mis, N, F"""		follicular lymphoma																																			Rec	yes		1	1p36.32	8764	"""tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"""		L	0								G		5,4399	9.9+/-24.2	0,5,2197	35.0	33.0	34.0		120	-1.2	0.0	1	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	TNFRSF14	NM_003820.2		0,5,6497	AA,AG,GG		0.0,0.1135,0.0384		40/284	2489215	5,12999	2202	4300	6502	SO:0001819	synonymous_variant	0			U70321	CCDS44046.1	1p36.32	2012-02-27	2011-08-11		ENSG00000157873	ENSG00000157873		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11912	protein-coding gene	gene with protein product	"""herpesvirus entry mediator"""	602746	"""tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"""			8898196, 9162061	Standard	XM_006711018		Approved	HVEM, ATAR, TR2, LIGHTR, HVEA, CD270	uc001ajt.1	Q92956	OTTHUMG00000000792	ENST00000355716.4:c.120G>A	1.37:g.2489215G>A			B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_14,prints_Fas_rcpt	p.P40	ENST00000355716.4	37	c.120	CCDS44046.1	1																																																																																			TNFRSF14	-	NULL	ENSG00000157873		0.667	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF14	HGNC	protein_coding	OTTHUMT00000002088.1	-	0.00	60	0	G			2489215	+1	tier1	rs150605790	no_errors	ENST00000355716	ensembl	human	known	74_37	silent	40.35	34	23	SNP	0.000	A
TNFRSF25	8718	genome.wustl.edu	37	1	6522195	6522195	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:6522195G>T	ENST00000356876.3	-	9	871	c.784C>A	c.(784-786)Cta>Ata	p.L262I	TNFRSF25_ENST00000377782.3_Missense_Mutation_p.L271I|TNFRSF25_ENST00000351748.3_Missense_Mutation_p.L79I|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.L217I|TNFRSF25_ENST00000461703.2_5'Flank|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.L225I	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	262					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)	p.L271V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GGAGGTGCTAGAAGGGTGTGG	0.642																																																	1	Substitution - Missense(1)	stomach(1)											135.0	138.0	137.0					1																	6522195		2203	4300	6503	SO:0001583	missense	0			U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"""Tumor necrosis factor receptor superfamily"""	11910	protein-coding gene	gene with protein product		603366	"""tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"""	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.784C>A	1.37:g.6522195G>T	ENSP00000349341:p.Leu262Ile		B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Missense_Mutation	SNP	pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg	p.L271I	ENST00000356876.3	37	c.811	CCDS71.1	1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296720	0.60086	.	.	ENSG00000215788	ENST00000356876;ENST00000377782;ENST00000351959;ENST00000351748;ENST00000348333	D;D;D;T;D	0.95001	-3.01;-3.15;-3.58;1.72;-2.1	4.99	4.08	0.47627	.	5.239670	0.01684	U	0.026332	D	0.97040	0.9033	M	0.72894	2.215	0.09310	N	1	D;D;D;P;D;D	0.76494	0.999;0.99;0.99;0.936;0.992;0.998	D;P;P;P;P;D	0.83275	0.979;0.814;0.857;0.523;0.858;0.996	D	0.84226	0.0464	10	0.38643	T	0.18	-6.2022	9.3377	0.38060	0.1:0.0:0.9:0.0	.	271;217;225;262;263;79	Q93038-11;Q93038-9;Q93038-10;Q93038;Q93038-2;Q93038-8	.;.;.;TNR25_HUMAN;.;.	I	262;271;225;79;217	ENSP00000349341:L262I;ENSP00000367013:L271I;ENSP00000337713:L225I;ENSP00000326762:L79I;ENSP00000314451:L217I	ENSP00000314451:L217I	L	-	1	2	TNFRSF25	6444782	0.008000	0.16893	0.048000	0.18961	0.107000	0.19398	0.618000	0.24373	1.207000	0.43291	0.655000	0.94253	CTA	TNFRSF25	-	prints_TNFR_25	ENSG00000215788		0.642	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF25	HGNC	protein_coding	OTTHUMT00000002259.1	-	0.00	56	0	G	NM_148965		6522195	-1	tier1	-	no_errors	ENST00000377782	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.025	T
TNIK	23043	genome.wustl.edu	37	3	170893043	170893045	+	In_Frame_Del	DEL	CTT	CTT	-	rs35124501		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:170893043_170893045delCTT	ENST00000436636.2	-	9	1113_1115	c.769_771delAAG	c.(769-771)aagdel	p.K257del	TNIK_ENST00000460047.1_In_Frame_Del_p.K257del|TNIK_ENST00000357327.5_In_Frame_Del_p.K257del|TNIK_ENST00000488470.1_In_Frame_Del_p.K257del|TNIK_ENST00000538048.1_In_Frame_Del_p.K257del|TNIK_ENST00000341852.6_In_Frame_Del_p.K257del|TNIK_ENST00000475336.1_In_Frame_Del_p.K257del|TNIK_ENST00000284483.8_In_Frame_Del_p.K257del|TNIK_ENST00000369326.5_In_Frame_Del_p.K257del|TNIK_ENST00000470834.1_In_Frame_Del_p.K257del	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	257	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AAACTCACCACTTCTTAGACTTC	0.498																																																	0																																										SO:0001651	inframe_deletion	0			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.769_771delAAG	3.37:g.170893046_170893048delCTT	ENSP00000399511:p.Lys257del		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	In_Frame_Del	DEL	pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.K257in_frame_del	ENST00000436636.2	37	c.771_769	CCDS46956.1	3																																																																																			TNIK	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000154310		0.498	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2		0.00	18	0	CTT	XM_039796		170893045	-1	tier1		no_errors	ENST00000436636	ensembl	human	known	74_37	in_frame_del	41.18	10	7	DEL	1.000:1.000:1.000	-
TNK2	10188	genome.wustl.edu	37	3	195594633	195594633	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:195594633delG	ENST00000333602.6	-	12	3108	c.2491delC	c.(2491-2493)cagfs	p.Q831fs	TNK2_ENST00000381916.2_Frame_Shift_Del_p.Q909fs|TNK2_ENST00000428187.1_Frame_Shift_Del_p.Q863fs|TNK2_ENST00000392400.1_Frame_Shift_Del_p.Q831fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	831	EBD domain. {ECO:0000250}.|Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TGGATCACCTGGGGGGTGGCG	0.662																																																	0													16.0	19.0	18.0					3																	195594633		2187	4273	6460	SO:0001589	frameshift_variant	0			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2491delC	3.37:g.195594633delG	ENSP00000329425:p.Gln831fs		Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom	p.Q909fs	ENST00000333602.6	37	c.2725	CCDS33928.1	3																																																																																			TNK2	-	pfam_Inhibitor_Mig-6	ENSG00000061938		0.662	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	HGNC	protein_coding	OTTHUMT00000341437.3		0.00	53	0	G	NM_005781		195594633	-1	tier1		no_errors	ENST00000381916	ensembl	human	known	74_37	frame_shift_del	55.10	22	27	DEL	1.000	-
TNNC2	7125	genome.wustl.edu	37	20	44453471	44453471	+	Silent	SNP	C	C	T	rs148902583		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:44453471C>T	ENST00000372555.3	-	2	98	c.6G>A	c.(4-6)acG>acA	p.T2T	TNNC2_ENST00000372557.1_5'UTR	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	2				TD -> DT (in Ref. 9; AA sequence). {ECO:0000305}.	muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	CCTGCTGGTCCGTCTGCAGGA	0.612																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	109.0	112.0	111.0		6	0.7	1.0	20	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous	TNNC2	NM_003279.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		2/161	44453471	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"""EF-hand domain containing"""	11944	protein-coding gene	gene with protein product		191039	"""troponin C2, fast"""			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.6G>A	20.37:g.44453471C>T			Q6FH92	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.T2	ENST00000372555.3	37	c.6	CCDS13375.1	20																																																																																			TNNC2	-	NULL	ENSG00000101470		0.612	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNC2	HGNC	protein_coding	OTTHUMT00000079524.3	-	0.00	41	0	C	NM_003279		44453471	-1	tier1	rs148902583	no_errors	ENST00000372555	ensembl	human	known	74_37	silent	45.71	19	16	SNP	0.941	T
TNNT2	7139	genome.wustl.edu	37	1	201341267	201341267	+	Intron	SNP	G	G	A	rs397516472		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:201341267G>A	ENST00000509001.1	-	3	339				TNNT2_ENST00000367318.5_Intron|TNNT2_ENST00000367315.2_Intron|TNNT2_ENST00000421663.2_Intron|TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000236918.7_Intron|TNNT2_ENST00000367317.4_Intron|TNNT2_ENST00000367322.1_Intron|TNNT2_ENST00000458432.2_Intron|TNNT2_ENST00000360372.4_Intron	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)						ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						ACACGTTTACGCTTACCTTCC	0.512																																																	0													181.0	164.0	169.0					1																	201341267		2203	4300	6503	SO:0001627	intron_variant	0			X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.52+5C>T	1.37:g.201341267G>A			A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	RNA	SNP	-	NULL	ENST00000509001.1	37	NULL	CCDS30969.1	1																																																																																			TNNT2	-	-	ENSG00000118194		0.512	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TNNT2	HGNC	protein_coding	OTTHUMT00000360358.1	-	0.00	87	0	G	NM_000364		201341267	-1	tier1	-	no_errors	ENST00000466570	ensembl	human	known	74_37	rna	7.37	86	7	SNP	0.049	A
TNPO2	30000	genome.wustl.edu	37	19	12825713	12825713	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:12825713G>T	ENST00000592287.1	-	9	920	c.812C>A	c.(811-813)gCc>gAc	p.A271D	TNPO2_ENST00000450764.2_Missense_Mutation_p.A271D|TNPO2_ENST00000356861.5_Missense_Mutation_p.A271D|TNPO2_ENST00000441499.1_Missense_Mutation_p.A271D|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000588216.1_Missense_Mutation_p.A271D|TNPO2_ENST00000425528.1_Missense_Mutation_p.A271D	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	271					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGCCTCAAGGGCAACGTTCTC	0.637																																																	0													132.0	140.0	137.0					19																	12825713		2142	4234	6376	SO:0001583	missense	0			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.812C>A	19.37:g.12825713G>T	ENSP00000468434:p.Ala271Asp		O14655|Q6IN77	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.A271D	ENST00000592287.1	37	c.812	CCDS45991.1	19	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379052	0.82682	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.052312	0.85682	D	0.000000	D	0.86443	0.5934	M	0.92555	3.32	0.80722	D	1	D;P	0.76494	0.999;0.773	D;D	0.81914	0.995;0.918	D	0.89265	0.3600	10	0.87932	D	0	-23.306	18.4881	0.90836	0.0:0.0:1.0:0.0	.	435;271	Q4LE60;O14787	.;TNPO2_HUMAN	D	435;271;271;271;271;271;271	ENSP00000407182:A271D;ENSP00000389648:A271D;ENSP00000397379:A271D;ENSP00000349321:A271D	ENSP00000349321:A271D	A	-	2	0	TNPO2	12686713	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	9.392000	0.97252	2.673000	0.90976	0.650000	0.86243	GCC	TNPO2	-	superfamily_ARM-type_fold	ENSG00000105576		0.637	TNPO2-002	KNOWN	basic|CCDS	protein_coding	TNPO2	HGNC	protein_coding	OTTHUMT00000450785.1	-	0.00	85	0	G	NM_013433		12825713	-1	tier1	-	no_errors	ENST00000425528	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	T
TNR	7143	genome.wustl.edu	37	1	175293628	175293628	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:175293628C>T	ENST00000367674.2	-	22	4529	c.3821G>A	c.(3820-3822)cGc>cAc	p.R1274H	TNR_ENST00000263525.2_Missense_Mutation_p.R1274H|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	1274	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.R1274L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGAGAAAGGGCGTCCTTGATG	0.478																																																	1	Substitution - Missense(1)	ovary(1)											235.0	196.0	209.0					1																	175293628		2203	4300	6503	SO:0001583	missense	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3821G>A	1.37:g.175293628C>T	ENSP00000356646:p.Arg1274His		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.R1274H	ENST00000367674.2	37	c.3821	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.485426	0.96323	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.78126	-1.15;-1.15	5.66	5.66	0.87406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.86896	0.6043	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86970	0.2097	10	0.62326	D	0.03	.	19.3551	0.94408	0.0:1.0:0.0:0.0	.	1274	Q92752	TENR_HUMAN	H	1274;1274;1184	ENSP00000356646:R1274H;ENSP00000263525:R1274H	ENSP00000263525:R1274H	R	-	2	0	TNR	173560251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.711000	0.84669	2.666000	0.90696	0.655000	0.94253	CGC	TNR	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	ENSG00000116147		0.478	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	-	0.00	88	0	C	NM_003285		175293628	-1	tier1	-	no_errors	ENST00000263525	ensembl	human	known	74_37	missense	22.22	70	20	SNP	1.000	T
TNRC6A	27327	genome.wustl.edu	37	16	24834982	24834982	+	Missense_Mutation	SNP	G	G	T	rs150714754	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:24834982G>T	ENST00000395799.3	+	25	5872	c.5743G>T	c.(5743-5745)Ggc>Tgc	p.G1915C	TNRC6A_ENST00000432286.2_Missense_Mutation_p.G393C|TNRC6A_ENST00000315183.7_Missense_Mutation_p.G1866C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1915	Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AGACCTTCACGGCACTTCACT	0.597																																																	0													103.0	104.0	103.0					16																	24834982		2197	4300	6497	SO:0001583	missense	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5743G>T	16.37:g.24834982G>T	ENSP00000379144:p.Gly1915Cys		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.G1915C	ENST00000395799.3	37	c.5743	CCDS10624.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.11|15.11	2.734763|2.734763	0.48939|0.48939	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286|ENST00000450465	T;T|.	0.15487|.	2.48;2.42|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.106621|.	0.64402|.	D|.	0.000004|.	T|T	0.74275|0.74275	0.3695|0.3695	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79784|.	0.993;0.989|.	T|T	0.71331|0.71331	-0.4625|-0.4625	10|5	0.72032|.	D|.	0.01|.	-5.5246|-5.5246	19.7099|19.7099	0.96094|0.96094	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1866;1915|.	Q8NDV7-6;Q8NDV7|.	.;TNR6A_HUMAN|.	C|L	1866;1915;393|805	ENSP00000326900:G1866C;ENSP00000379144:G1915C|.	ENSP00000326900:G1866C|.	G|R	+|+	1|2	0|0	TNRC6A|TNRC6A	24742483|24742483	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.143000|5.143000	0.64826|0.64826	2.638000|2.638000	0.89438|0.89438	0.651000|0.651000	0.88453|0.88453	GGC|CGG	TNRC6A	-	NULL	ENSG00000090905		0.597	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	-	0.00	60	0	G	NM_020847		24834982	+1	tier1	-	no_errors	ENST00000395799	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
TNRC6C	57690	genome.wustl.edu	37	17	76047107	76047107	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:76047107delG	ENST00000588061.1	+	5	2691	c.1964delG	c.(1963-1965)tggfs	p.W655fs	TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.W655fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.W655fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.W655fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.W655fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.W655fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	655	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGTACAAACTGGGGGGAGACT	0.512																																																	0													34.0	36.0	36.0					17																	76047107		1913	4112	6025	SO:0001589	frameshift_variant	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1964delG	17.37:g.76047107delG	ENSP00000468647:p.Trp655fs		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E657fs	ENST00000588061.1	37	c.1964	CCDS45798.1	17																																																																																			TNRC6C	-	NULL	ENSG00000078687		0.512	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1		0.00	27	0	G	NM_018996		76047107	+1	tier1		no_errors	ENST00000335749	ensembl	human	known	74_37	frame_shift_del	37.14	22	13	DEL	1.000	-
TOMM6	100188893	genome.wustl.edu	37	6	41755470	41755470	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:41755470G>T	ENST00000398884.3	+	1	71	c.35G>T	c.(34-36)gGc>gTc	p.G12V	TOMM6_ENST00000398881.3_Missense_Mutation_p.G12V	NM_001134493.1	NP_001127965.1	Q96B49	TOM6_HUMAN	translocase of outer mitochondrial membrane 6 homolog (yeast)	12					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)											AGCGCTGCTGGCTCGGCTAAT	0.592											OREG0004074|OREG0017435	type=REGULATORY REGION|Gene=C6orf49|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													46.0	44.0	45.0					6																	41755470		692	1591	2283	SO:0001583	missense	0			AF216754	CCDS47424.1	6p21.1	2010-08-05			ENSG00000214736	ENSG00000214736			34528	protein-coding gene	gene with protein product	"""over-expressed breast tumor protein"""					18331822	Standard	NM_001134493		Approved	OBTP	uc011dug.1	Q96B49	OTTHUMG00000137505	ENST00000398884.3:c.35G>T	6.37:g.41755470G>T	ENSP00000381859:p.Gly12Val	903	B2DG15|Q9UH52	Missense_Mutation	SNP	NULL	p.G12V	ENST00000398884.3	37	c.35	CCDS47424.1	6	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451626	0.63290	.	.	ENSG00000214736	ENST00000398884;ENST00000398881	.	.	.	5.25	4.37	0.52481	.	0.000000	0.45361	U	0.000379	T	0.20414	0.0491	.	.	.	0.22034	N	0.999409	B	0.14438	0.01	B	0.15484	0.013	T	0.17776	-1.0358	8	0.72032	D	0.01	-9.124	10.465	0.44602	0.0:0.1449:0.705:0.1501	.	12	Q96B49	TOM6_HUMAN	V	12	.	ENSP00000381856:G12V	G	+	2	0	TOMM6	41863448	0.295000	0.24389	0.026000	0.17262	0.041000	0.13682	1.471000	0.35365	1.566000	0.49654	0.655000	0.94253	GGC	TOMM6	-	NULL	ENSG00000214736		0.592	TOMM6-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TOMM6	HGNC	protein_coding	OTTHUMT00000268822.1	-	0.00	59	0	G			41755470	+1	tier1	-	no_errors	ENST00000398881	ensembl	human	novel	74_37	missense	6.15	61	4	SNP	0.017	T
TOMM7	54543	genome.wustl.edu	37	7	22857031	22857032	+	Intron	DEL	TT	TT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:22857031_22857032delTT	ENST00000358435.4	-	2	224				TOMM7_ENST00000405021.3_Intron|TOMM7_ENST00000372879.4_Splice_Site_p.KT96fs|TOMM7_ENST00000463284.1_Intron	NM_019059.2	NP_061932.1	Q9P0U1	TOM7_HUMAN	translocase of outer mitochondrial membrane 7 homolog (yeast)						cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			skin(1)	1						AATTATTTACtttttttttttt	0.381																																																	0																																										SO:0001627	intron_variant	0			AF150733	CCDS5376.1	7p15.3	2003-07-21			ENSG00000196683	ENSG00000196683			21648	protein-coding gene	gene with protein product		607980				10647823, 12198123	Standard	NM_019059		Approved		uc003svk.4	Q9P0U1	OTTHUMG00000094805	ENST00000358435.4:c.152+586AA>-	7.37:g.22857041_22857042delTT			O95939	Frame_Shift_Del	DEL	pfam_Tom7	p.K96fs	ENST00000358435.4	37	c.289_288	CCDS5376.1	7																																																																																			TOMM7	-	NULL	ENSG00000196683		0.381	TOMM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM7	HGNC	protein_coding	OTTHUMT00000211623.1		0.00	29	0	TT	NM_019059		22857032	-1	tier1		no_errors	ENST00000372879	ensembl	human	putative	74_37	frame_shift_del	42.86	16	12	DEL	0.100:0.100	-
TONSL	4796	genome.wustl.edu	37	8	145668620	145668620	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:145668620G>T	ENST00000409379.3	-	4	378	c.349C>A	c.(349-351)Cac>Aac	p.H117N		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	117					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						ATGTCCAGGTGGGTGCGGCCG	0.607																																																	0													91.0	96.0	94.0					8																	145668620		692	1591	2283	SO:0001583	missense	0				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.349C>A	8.37:g.145668620G>T	ENSP00000386239:p.His117Asn		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.H117N	ENST00000409379.3	37	c.349	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986503	0.53934	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.76186	-1.0	4.66	2.34	0.29019	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.66809	0.2827	M	0.66939	2.045	0.35202	D	0.774329	P	0.42827	0.791	B	0.37650	0.255	T	0.69363	-0.5165	9	0.56958	D	0.05	.	5.4955	0.16799	0.6472:0.0:0.3528:0.0	.	117	Q96HA7	TONSL_HUMAN	N	117	ENSP00000386239:H117N	ENSP00000386239:H117N	H	-	1	0	TONSL	145639428	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	2.839000	0.48207	0.282000	0.22254	0.462000	0.41574	CAC	TONSL	-	NULL	ENSG00000160949		0.607	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2	-	0.00	92	0	G	NM_013432		145668620	-1	tier1	-	no_errors	ENST00000409379	ensembl	human	known	74_37	missense	5.10	93	5	SNP	1.000	T
TOP3B	8940	genome.wustl.edu	37	22	22319678	22319678	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:22319678G>A	ENST00000398793.2	-	9	1356	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	TOP3B_ENST00000413067.2_Missense_Mutation_p.R37C|TOP3B_ENST00000357179.5_Missense_Mutation_p.R308C	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	308					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)	p.R308C(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CTGGCCACACGCAGCATCTCC	0.567																																																	2	Substitution - Missense(2)	breast(2)											83.0	65.0	71.0					22																	22319678		2203	4300	6503	SO:0001583	missense	0			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.922C>T	22.37:g.22319678G>A	ENSP00000381773:p.Arg308Cys		A0M8Q3|Q9BUP5	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.R308C	ENST00000398793.2	37	c.922	CCDS13797.1	22	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550338	0.65311	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000413067	T;T;T	0.24538	1.85;1.85;1.85	4.37	4.37	0.52481	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central region, subdomain 3 (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.977	T	0.66272	-0.5965	10	0.87932	D	0	.	13.0433	0.58913	0.0:0.0:0.8386:0.1614	.	308;308	O95985;O95985-2	TOP3B_HUMAN;.	C	308;308;37	ENSP00000349705:R308C;ENSP00000381773:R308C;ENSP00000393118:R37C	ENSP00000349705:R308C	R	-	1	0	TOP3B	20649678	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	3.035000	0.49759	2.246000	0.74042	0.561000	0.74099	CGT	TOP3B	-	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd	ENSG00000100038		0.567	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	HGNC	protein_coding	OTTHUMT00000320251.1	-	0.00	71	0	G	NM_003935		22319678	-1	tier1	-	no_errors	ENST00000357179	ensembl	human	known	74_37	missense	28.57	55	22	SNP	0.979	A
TOP3B	8940	genome.wustl.edu	37	22	22323023	22323023	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:22323023T>C	ENST00000398793.2	-	7	1140	c.706A>G	c.(706-708)Aaa>Gaa	p.K236E	TOP3B_ENST00000413067.2_5'UTR|TOP3B_ENST00000357179.5_Missense_Mutation_p.K236E	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	236					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GTCTCTGGTTTGAAGGACTGG	0.502																																																	0													128.0	126.0	127.0					22																	22323023		2203	4300	6503	SO:0001583	missense	0			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.706A>G	22.37:g.22323023T>C	ENSP00000381773:p.Lys236Glu		A0M8Q3|Q9BUP5	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.K236E	ENST00000398793.2	37	c.706	CCDS13797.1	22	.	.	.	.	.	.	.	.	.	.	T	26.3	4.728471	0.89390	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000424393	T;T;T	0.23950	1.88;1.88;1.88	5.04	5.04	0.67666	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, domain 2 (1);	0.098626	0.64402	D	0.000002	T	0.35537	0.0935	L	0.61036	1.89	0.80722	D	1	P	0.40282	0.711	P	0.45343	0.477	T	0.13282	-1.0515	10	0.49607	T	0.09	.	14.9351	0.70948	0.0:0.0:0.0:1.0	.	236	O95985	TOP3B_HUMAN	E	236	ENSP00000349705:K236E;ENSP00000381773:K236E;ENSP00000390977:K236E	ENSP00000349705:K236E	K	-	1	0	TOP3B	20653023	1.000000	0.71417	0.973000	0.42090	0.993000	0.82548	7.819000	0.86621	2.111000	0.64477	0.454000	0.30748	AAA	TOP3B	-	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_2	ENSG00000100038		0.502	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	HGNC	protein_coding	OTTHUMT00000320251.1	-	0.00	88	0	T	NM_003935		22323023	-1	tier1	-	no_errors	ENST00000357179	ensembl	human	known	74_37	missense	36.21	37	21	SNP	1.000	C
TOPAZ1	375337	genome.wustl.edu	37	3	44286737	44286737	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:44286737delA	ENST00000309765.4	+	2	2907	c.2739delA	c.(2737-2739)gtafs	p.V913fs		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	913						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)										AAACTCCAGTAAAAAAAGAAC	0.418																																																	0													68.0	62.0	64.0					3																	44286737		692	1591	2283	SO:0001589	frameshift_variant	0			AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.2739delA	3.37:g.44286737delA	ENSP00000310303:p.Val913fs			Frame_Shift_Del	DEL	NULL	p.E916fs	ENST00000309765.4	37	c.2739	CCDS46809.1	3																																																																																			TOPAZ1	-	NULL	ENSG00000173769		0.418	TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPAZ1	HGNC	protein_coding	OTTHUMT00000343247.1		0.00	40	0	A	NM_001145030		44286737	+1	tier1		no_errors	ENST00000309765	ensembl	human	known	74_37	frame_shift_del	38.71	19	12	DEL	0.009	-
TP73	7161	genome.wustl.edu	37	1	3599692	3599692	+	Missense_Mutation	SNP	C	C	T	rs148777835		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:3599692C>T	ENST00000378295.4	+	3	289	c.134C>T	c.(133-135)aCg>aTg	p.T45M	TP73_ENST00000346387.4_Missense_Mutation_p.T45M|TP73_ENST00000357733.3_Missense_Mutation_p.T45M|TP73_ENST00000604074.1_Missense_Mutation_p.T45M|TP73_ENST00000354437.4_Missense_Mutation_p.T45M|TP73_ENST00000604479.1_Missense_Mutation_p.T45M|TP73_ENST00000603362.1_Missense_Mutation_p.T45M	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	45	Asp/Glu-rich (acidic).|Transactivation. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		GTGGGCGGAACGGATTCCAGC	0.587																																																	0								C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	132.0	126.0	128.0		134,134,134,134,134,134	3.8	0.0	1	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TP73	NM_001204184.1,NM_001204185.1,NM_001204186.1,NM_001204187.1,NM_001204188.1,NM_005427.3	81,81,81,81,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	45/500,45/476,45/404,45/556,45/541,45/637	3599692	1,13005	2203	4300	6503	SO:0001583	missense	0			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.134C>T	1.37:g.3599692C>T	ENSP00000367545:p.Thr45Met		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.T45M	ENST00000378295.4	37	c.134	CCDS49.1	1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608250	0.28623	0.0	1.16E-4	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387	D;D;D;D	0.99405	-5.71;-5.84;-5.59;-5.69	4.74	3.8	0.43715	.	0.281364	0.33854	U	0.004494	D	0.98080	0.9367	N	0.19112	0.55	0.34149	D	0.667275	D;D	0.58620	0.983;0.971	P;B	0.50270	0.636;0.432	D	0.99946	1.1468	10	0.56958	D	0.05	-6.1993	13.2039	0.59785	0.166:0.834:0.0:0.0	.	45;45	O15350-2;O15350	.;P73_HUMAN	M	45	ENSP00000367545:T45M;ENSP00000346423:T45M;ENSP00000350366:T45M;ENSP00000340740:T45M	ENSP00000340740:T45M	T	+	2	0	TP73	3589552	0.062000	0.20869	0.001000	0.08648	0.004000	0.04260	3.827000	0.55745	1.057000	0.40506	0.563000	0.77884	ACG	TP73	-	NULL	ENSG00000078900		0.587	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	-	0.00	69	0	C	NM_005427		3599692	+1	tier1	rs148777835	no_errors	ENST00000378295	ensembl	human	known	74_37	missense	36.62	45	26	SNP	0.011	T
TPCN1	53373	genome.wustl.edu	37	12	113706674	113706674	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:113706674G>A	ENST00000335509.6	+	6	970	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	TPCN1_ENST00000541517.1_Missense_Mutation_p.R291Q|TPCN1_ENST00000550785.1_Missense_Mutation_p.R291Q|TPCN1_ENST00000392569.4_Missense_Mutation_p.R151Q	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	219					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)	p.R219Q(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGTGGCGTCCGGCGGTAAGGC	0.627																																																	1	Substitution - Missense(1)	lung(1)											112.0	87.0	96.0					12																	113706674		2203	4300	6503	SO:0001583	missense	0			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.656G>A	12.37:g.113706674G>A	ENSP00000335300:p.Arg219Gln		A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R291Q	ENST00000335509.6	37	c.872	CCDS31908.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.058864	0.97246	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.98792	-5.14;-5.14;-5.14;-5.14	4.9	4.9	0.64082	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99067	0.9680	M	0.85859	2.78	0.58432	D	0.99999	D;D;D	0.76494	0.999;0.974;0.998	D;P;P	0.80764	0.994;0.543;0.799	D	0.99937	1.1369	10	0.19147	T	0.46	-28.9932	18.2536	0.90012	0.0:0.0:1.0:0.0	.	219;291;219	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	Q	219;291;291;151	ENSP00000335300:R219Q;ENSP00000448083:R291Q;ENSP00000438125:R291Q;ENSP00000376350:R151Q	ENSP00000335300:R219Q	R	+	2	0	TPCN1	112191057	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.179000	0.94861	2.533000	0.85409	0.655000	0.94253	CGG	TPCN1	-	pfam_Ion_trans_dom	ENSG00000186815		0.627	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN1	HGNC	protein_coding	OTTHUMT00000405156.3	-	0.00	88	0	G	NM_017901		113706674	+1	tier1	-	no_errors	ENST00000541517	ensembl	human	known	74_37	missense	25.00	60	20	SNP	1.000	A
TPD52	7163	genome.wustl.edu	37	8	80963777	80963777	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:80963777delT	ENST00000379097.3	-	4	853	c.491delA	c.(490-492)aagfs	p.K164fs	TPD52_ENST00000448733.2_Frame_Shift_Del_p.K164fs|TPD52_ENST00000523395.1_5'Flank|TPD52_ENST00000537855.1_Frame_Shift_Del_p.K164fs|TPD52_ENST00000379096.5_Frame_Shift_Del_p.K124fs|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000520527.1_Frame_Shift_Del_p.K164fs|TPD52_ENST00000518937.1_Frame_Shift_Del_p.K124fs|TPD52_ENST00000517427.1_Frame_Shift_Del_p.K164fs	NM_001025252.1	NP_001020423.1	P55327	TPD52_HUMAN	tumor protein D52	164					anatomical structure morphogenesis (GO:0009653)|B cell differentiation (GO:0030183)|positive regulation of cell proliferation (GO:0008284)|secretion (GO:0046903)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			ATCTTCCAGCTTTTTGGTGAT	0.393																																																	0													108.0	105.0	106.0					8																	80963777		2203	4300	6503	SO:0001589	frameshift_variant	0			U18914	CCDS34912.1, CCDS47879.1, CCDS55249.1, CCDS75757.1, CCDS75758.1, CCDS75759.1	8q21.13	2014-06-24			ENSG00000076554	ENSG00000076554			12005	protein-coding gene	gene with protein product		604068				7796418	Standard	NM_001287144		Approved	D52, hD52, N8L	uc003ybr.1	P55327	OTTHUMG00000164565	ENST00000379097.3:c.491delA	8.37:g.80963777delT	ENSP00000368391:p.Lys164fs		B7Z414|C9J502|D0UFD1|D0UFD2|D0UFD3|D0UFD4|D0UFD5|E5RKB4|Q13056|Q53EK8|Q6FGP3|Q6FGS3|Q86YZ2|Q9UCX8	Frame_Shift_Del	DEL	pfam_TPD52,pfam_Ribosomal_S28_mit,superfamily_NA-bd_OB-fold	p.K164fs	ENST00000379097.3	37	c.491	CCDS34912.1	8																																																																																			TPD52	-	pfam_TPD52	ENSG00000076554		0.393	TPD52-006	KNOWN	basic|CCDS	protein_coding	TPD52	HGNC	protein_coding	OTTHUMT00000379539.2		0.00	41	0	T	NM_005079		80963777	-1	tier1		no_errors	ENST00000537855	ensembl	human	known	74_37	frame_shift_del	16.67	50	10	DEL	1.000	-
TPK1	27010	genome.wustl.edu	37	7	144364906	144364906	+	Intron	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:144364906G>T	ENST00000360057.3	-	4	288				TPK1_ENST00000538212.2_Missense_Mutation_p.A28D|TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000547966.1_5'Flank|TPK1_ENST00000378099.3_Intron	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1						small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	atgactggtggctgggggcct	0.507																																					Ovarian(45;88 1034 2073 5829 28455)												0													95.0	92.0	93.0					7																	144364906		876	1991	2867	SO:0001627	intron_variant	0			AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.185+15095C>A	7.37:g.144364906G>T			A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	NULL	p.S47R	ENST00000360057.3	37	c.141	CCDS5888.1	7	.	.	.	.	.	.	.	.	.	.	G	0.376	-0.931226	0.02359	.	.	ENSG00000196511	ENST00000538212	T	0.78003	-1.14	1.37	-2.73	0.05950	.	.	.	.	.	T	0.50939	0.1645	.	.	.	0.09310	N	0.999999	B	0.21309	0.054	B	0.19391	0.025	T	0.36016	-0.9765	8	0.07990	T	0.79	.	4.4797	0.11760	0.2937:0.2076:0.4987:0.0	.	28	Q6ZQX6	.	D	28	ENSP00000438813:A28D	ENSP00000438813:A28D	A	-	2	0	TPK1	143995839	0.036000	0.19791	0.000000	0.03702	0.046000	0.14306	-0.181000	0.09740	-1.833000	0.01195	-0.655000	0.03904	GCC	TPK1	-	NULL	ENSG00000196511		0.507	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPK1	HGNC	protein_coding	OTTHUMT00000327777.1	-	0.00	80	0	G	NM_022445		144364906	-1	tier1	-	no_errors	ENST00000482940	ensembl	human	known	74_37	missense	5.00	76	4	SNP	0.000	T
TPM4	7171	genome.wustl.edu	37	19	16212344	16212344	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:16212344delT	ENST00000300933.4	+	0	1195				TPM4_ENST00000538887.1_3'UTR|CTD-2231E14.5_ENST00000587693.1_lincRNA|TPM4_ENST00000591645.1_3'UTR|TPM4_ENST00000344824.6_3'UTR	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4						cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						ATTCCTTCCCTTTTTTTTTCA	0.358			T	ALK	ALCL																																			Dom	yes		19	19p13.1	7171	tropomyosin 4		L	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"""Tropomyosins"""	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000300933.4:c.*188T>-	19.37:g.16212344delT			P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	RNA	DEL	-	NULL	ENST00000300933.4	37	NULL	CCDS12338.1	19																																																																																			TPM4	-	-	ENSG00000167460		0.358	TPM4-002	KNOWN	basic|CCDS	protein_coding	TPM4	HGNC	protein_coding	OTTHUMT00000459673.2		0.00	43	0	T	NM_003290		16212344	+1	tier1		no_errors	ENST00000591645	ensembl	human	known	74_37	rna	17.86	46	10	DEL	0.012	-
TPMT	7172	genome.wustl.edu	37	6	18139903	18139903	+	Missense_Mutation	SNP	G	G	T	rs372997906		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:18139903G>T	ENST00000309983.4	-	5	497	c.412C>A	c.(412-414)Ctt>Att	p.L138I		NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase	138					methylation (GO:0032259)|nucleobase-containing compound metabolic process (GO:0006139)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	thiopurine S-methyltransferase activity (GO:0008119)	p.L138I(1)		large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Azathioprine(DB00993)|Bendroflumethiazide(DB00436)|Cefazolin(DB01327)|Mercaptopurine(DB01033)|Olsalazine(DB01250)|Trichlormethiazide(DB01021)	TACCTGGGAAGATCAAAAATA	0.363																																					Colon(190;1381 2791 16728 32493)												1	Substitution - Missense(1)	large_intestine(1)											69.0	72.0	71.0					6																	18139903		2203	4300	6503	SO:0001583	missense	0				CCDS4543.1	6p22.3	2014-09-17			ENSG00000137364	ENSG00000137364	2.1.1.67		12014	protein-coding gene	gene with protein product		187680				8316220	Standard	NM_000367		Approved		uc003ncm.3	P51580	OTTHUMG00000014317	ENST00000309983.4:c.412C>A	6.37:g.18139903G>T	ENSP00000312304:p.Leu138Ile		O14806|O15423|O15424|O15425|O15426|O15515|O15548|O43213|Q5VUK6|Q9UBE6|Q9UBT8|Q9UE62	Missense_Mutation	SNP	pfam_TPMT,pirsf_Thiopurine_S-MeTrfase	p.L138I	ENST00000309983.4	37	c.412	CCDS4543.1	6	.	.	.	.	.	.	.	.	.	.	G	16.70	3.196938	0.58126	.	.	ENSG00000137364	ENST00000309983	T	0.75704	-0.96	5.21	2.43	0.29744	.	0.211536	0.47455	D	0.000230	T	0.72526	0.3471	M	0.83852	2.665	0.35742	D	0.818766	B;B	0.24483	0.104;0.018	P;B	0.47864	0.559;0.196	T	0.71361	-0.4616	10	0.48119	T	0.1	-10.3876	3.3494	0.07147	0.3103:0.0:0.5146:0.1751	.	138;138	Q9BS45;P51580	.;TPMT_HUMAN	I	138	ENSP00000312304:L138I	ENSP00000312304:L138I	L	-	1	0	TPMT	18247882	1.000000	0.71417	0.999000	0.59377	0.905000	0.53344	1.342000	0.33919	0.577000	0.29470	-0.347000	0.07816	CTT	TPMT	-	pfam_TPMT,pirsf_Thiopurine_S-MeTrfase	ENSG00000137364		0.363	TPMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPMT	HGNC	protein_coding	OTTHUMT00000039960.1		0.00	69	0	G			18139903	-1			no_errors	ENST00000309983	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.999	T
TPP1	1200	genome.wustl.edu	37	11	6638871	6638871	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:6638871G>T	ENST00000299427.6	-	4	426	c.366C>A	c.(364-366)tgC>tgA	p.C122*	TPP1_ENST00000533371.1_De_novo_Start_OutOfFrame|TPP1_ENST00000534644.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA	NM_000391.3	NP_000382.3	P49638	TTPA_HUMAN	tripeptidyl peptidase I	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180)	cytosol (GO:0005829)|late endosome (GO:0005770)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	Vitamin E(DB00163)	TGCTCAGCCAGCAAGTCAGAA	0.562																																																	0													130.0	120.0	123.0					11																	6638871		2201	4296	6497	SO:0001587	stop_gained	0			AF017456	CCDS7770.1	11p15.4	2014-09-17	2004-12-09	2004-12-10	ENSG00000166340	ENSG00000166340			2073	protein-coding gene	gene with protein product	"""TPP I"""	607998	"""ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease)"", ""spinocerebellar ataxia, autosomal recessive 7"""	CLN2, SCAR7		9653647, 23418007	Standard	NM_000391		Approved		uc001mel.1	O14773	OTTHUMG00000133404	ENST00000299427.6:c.366C>A	11.37:g.6638871G>T	ENSP00000299427:p.Cys122*		Q71V64	Nonsense_Mutation	SNP	pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep	p.C122*	ENST00000299427.6	37	c.366	CCDS7770.1	11	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360062	0.61403	.	.	ENSG00000166340	ENST00000299427;ENST00000453338;ENST00000436873	.	.	.	5.7	3.86	0.44501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.0311	9.5351	0.39218	0.2178:0.0:0.7822:0.0	.	.	.	.	X	122	.	ENSP00000299427:C122X	C	-	3	2	TPP1	6595447	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	3.749000	0.55150	0.777000	0.33496	-0.794000	0.03295	TGC	TPP1	-	pfam_Peptidase_S53_propep,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep	ENSG00000166340		0.562	TPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP1	HGNC	protein_coding	OTTHUMT00000257261.2	-	0.00	43	0	G			6638871	-1	tier1	-	no_errors	ENST00000299427	ensembl	human	known	74_37	nonsense	7.69	48	4	SNP	0.997	T
TPRN	286262	genome.wustl.edu	37	9	140087025	140087027	+	In_Frame_Del	DEL	TCC	TCC	-	rs376810326		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:140087025_140087027delTCC	ENST00000409012.4	-	2	1928_1930	c.1842_1844delGGA	c.(1840-1845)gaggaa>gaa	p.614_615EE>E	TPRN_ENST00000541945.1_5'Flank|TPRN_ENST00000321773.2_In_Frame_Del_p.553_554EE>E	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	614	Glu-rich.				sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)		p.E315delE(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						ctcttcctcttcctcctcctcct	0.596																																																	1	Deletion - In frame(1)	large_intestine(1)																																								SO:0001651	inframe_deletion	0			AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1842_1844delGGA	9.37:g.140087034_140087036delTCC	ENSP00000387100:p.Glu621del		B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	In_Frame_Del	DEL	NULL	p.E618in_frame_del	ENST00000409012.4	37	c.1844_1842	CCDS56594.1	9																																																																																			TPRN	-	NULL	ENSG00000176058		0.596	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPRN	HGNC	protein_coding	OTTHUMT00000055323.3		0.00	46	0	TCC	NM_173691		140087027	-1	tier1		no_errors	ENST00000409012	ensembl	human	known	74_37	in_frame_del	20.59	27	7	DEL	0.745:0.829:0.911	-
TPRX2P	503627	genome.wustl.edu	37	19	48364080	48364080	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:48364080G>A	ENST00000535362.1	+	3	292	c.292G>A	c.(292-294)Gcc>Acc	p.A98T	CTD-3098H1.2_ENST00000555406.2_lincRNA					tetra-peptide repeat homeobox 2 pseudogene																		GAATCGCCGCGCCAAACTAGC	0.736																																																	0																																										SO:0001583	missense	0					19q13.32	2011-06-20				ENSG00000259009		"""Homeoboxes / PRD class"""	32175	pseudogene	pseudogene							Standard	NG_004835		Approved	TPRX2P1				ENST00000535362.1:c.292G>A	19.37:g.48364080G>A	ENSP00000440389:p.Ala98Thr			Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.A98T	ENST00000535362.1	37	c.292		19	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042379	0.55003	.	.	ENSG00000105392	ENST00000535362	D	0.97089	-4.24	2.74	1.68	0.24146	.	.	.	.	.	D	0.95194	0.8442	.	.	.	0.23271	N	0.998005	.	.	.	.	.	.	D	0.90736	0.4646	6	0.87932	D	0	.	4.6291	0.12493	0.1834:0.0:0.8166:0.0	.	.	.	.	T	98	ENSP00000440389:A98T	ENSP00000440389:A98T	A	+	1	0	CRX	53055892	0.133000	0.22466	0.056000	0.19401	0.010000	0.07245	1.066000	0.30604	1.482000	0.48325	0.462000	0.41574	GCC	TPRX2P	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000259009		0.736	TPRX2P-001	KNOWN	basic|appris_principal	protein_coding	TPRX2P	HGNC	protein_coding	OTTHUMT00000470149.1	-	0.00	63	0	G	NG_004835		48364080	+1	tier1	-	no_errors	ENST00000535362	ensembl	human	known	74_37	missense	43.18	25	19	SNP	0.194	A
TPSAB1	7177	genome.wustl.edu	37	16	1291473	1291473	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:1291473G>A	ENST00000338844.3	+	4	305	c.272G>A	c.(271-273)cGg>cAg	p.R91Q	TPSAB1_ENST00000461509.2_Missense_Mutation_p.R98Q	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	91	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GTGCAACTGCGGGAGCAGCAC	0.677																																																	0													6.0	7.0	7.0					16																	1291473		2067	4073	6140	SO:0001583	missense	0			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.272G>A	16.37:g.1291473G>A	ENSP00000343577:p.Arg91Gln		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.R91Q	ENST00000338844.3	37	c.272	CCDS10431.1	16	.	.	.	.	.	.	.	.	.	.	g	9.853	1.194105	0.22037	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	T;T	0.81415	-1.49;-1.49	3.38	1.37	0.22104	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.549745	0.15084	N	0.281496	T	0.72795	0.3505	N	0.20685	0.6	0.09310	N	1	D;D	0.58970	0.98;0.984	P;P	0.53722	0.614;0.733	T	0.62201	-0.6904	10	0.51188	T	0.08	.	5.7408	0.18092	0.2585:0.0:0.7415:0.0	.	82;91	Q15661-2;Q15661	.;TRYB1_HUMAN	Q	91;98	ENSP00000343577:R91Q;ENSP00000418247:R98Q	ENSP00000343577:R91Q	R	+	2	0	TPSAB1	1231474	0.000000	0.05858	0.488000	0.27440	0.388000	0.30384	0.188000	0.17018	0.271000	0.22005	-0.346000	0.07831	CGG	TPSAB1	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1	ENSG00000172236		0.677	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TPSAB1	HGNC	protein_coding	OTTHUMT00000206914.1	-	0.00	48	0	G	NM_003294		1291473	+1	tier1	-	no_errors	ENST00000338844	ensembl	human	known	74_37	missense	35.71	27	15	SNP	0.005	A
TRAF2	7186	genome.wustl.edu	37	9	139820270	139820270	+	Missense_Mutation	SNP	G	G	A	rs148765924		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:139820270G>A	ENST00000247668.2	+	11	1475	c.1423G>A	c.(1423-1425)Gtc>Atc	p.V475I	TRAF2_ENST00000359662.3_Missense_Mutation_p.V527I|TRAF2_ENST00000536468.1_Missense_Mutation_p.V475I	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	475	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CTTCTGCCCCGTCTCCAAGAT	0.567																																																	0								G	ILE/VAL	0,4406		0,0,2203	80.0	68.0	72.0		1423	1.7	0.9	9	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRAF2	NM_021138.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	475/502	139820270	1,13005	2203	4300	6503	SO:0001583	missense	0			U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1423G>A	9.37:g.139820270G>A	ENSP00000247668:p.Val475Ile		A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.V527I	ENST00000247668.2	37	c.1579	CCDS7013.1	9	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441759	0.43326	0.0	1.16E-4	ENSG00000127191	ENST00000536468;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T	0.42513	0.97;0.97;0.97	4.52	1.7	0.24286	TRAF-type (1);TRAF-like (1);MATH (3);	0.133902	0.50627	N	0.000103	T	0.20901	0.0503	N	0.12182	0.205	0.42919	D	0.99428	P;P;B	0.40534	0.546;0.72;0.191	B;B;B	0.36534	0.144;0.227;0.037	T	0.03325	-1.1048	10	0.32370	T	0.25	-44.1988	8.9616	0.35851	0.2434:0.0:0.7566:0.0	.	464;450;475	Q12933-3;Q12933-4;Q12933	.;.;TRAF2_HUMAN	I	475;474;475;527;396	ENSP00000446414:V475I;ENSP00000247668:V475I;ENSP00000352685:V527I	ENSP00000247668:V475I	V	+	1	0	TRAF2	138940091	0.998000	0.40836	0.908000	0.35775	0.977000	0.68977	3.022000	0.49659	0.193000	0.20303	-0.291000	0.09656	GTC	TRAF2	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH	ENSG00000127191		0.567	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF2	HGNC	protein_coding	OTTHUMT00000055166.1	-	0.00	45	0	G	NM_021138		139820270	+1	tier1	rs148765924	no_errors	ENST00000359662	ensembl	human	known	74_37	missense	30.56	25	11	SNP	0.943	A
TRAF5	7188	genome.wustl.edu	37	1	211545734	211545734	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:211545734delG	ENST00000261464.5	+	11	1418	c.1364delG	c.(1363-1365)aggfs	p.R455fs	TRAF5_ENST00000427925.2_Frame_Shift_Del_p.R349fs|TRAF5_ENST00000336184.2_Frame_Shift_Del_p.R455fs|TRAF5_ENST00000367004.3_Frame_Shift_Del_p.R455fs	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	455	Interaction with EIF2AK2/PKR.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GGGTCAGGGAGGGGGTCACAC	0.567																																																	0													102.0	97.0	99.0					1																	211545734		2203	4300	6503	SO:0001589	frameshift_variant	0			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1364delG	1.37:g.211545734delG	ENSP00000261464:p.Arg455fs		B4DIS9|B4E0A2|Q6FHY1	Frame_Shift_Del	DEL	pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.S457fs	ENST00000261464.5	37	c.1364	CCDS1497.1	1																																																																																			TRAF5	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH	ENSG00000082512		0.567	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF5	HGNC	protein_coding	OTTHUMT00000089825.1		0.00	83	0	G	NM_004619		211545734	+1	tier1		no_errors	ENST00000261464	ensembl	human	known	74_37	frame_shift_del	27.55	71	27	DEL	1.000	-
TRAK1	22906	genome.wustl.edu	37	3	42264488	42264488	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:42264488G>A	ENST00000327628.5	+	16	2521	c.2121G>A	c.(2119-2121)acG>acA	p.T707T	RNU4-78P_ENST00000410940.1_RNA|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Silent_p.T649T	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	707					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGAAATCCACGCCGGTGGCCA	0.562																																					GBM(44;195 884 22595 31865 41850)												0													60.0	71.0	67.0					3																	42264488		2065	4212	6277	SO:0001819	synonymous_variant	0				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.2121G>A	3.37:g.42264488G>A			E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.T649	ENST00000327628.5	37	c.1947	CCDS43072.1	3																																																																																			TRAK1	-	NULL	ENSG00000182606		0.562	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	-	0.00	48	0	G	NM_014965		42264488	+1	tier1	-	no_errors	ENST00000396175	ensembl	human	known	74_37	silent	50.00	16	16	SNP	0.046	A
TRAM1L1	133022	genome.wustl.edu	37	4	118005607	118005607	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:118005607A>C	ENST00000310754.4	-	1	1129	c.943T>G	c.(943-945)Tta>Gta	p.L315V		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	315	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AGAGTAATTAAGTTCCATGTT	0.408																																																	0													138.0	135.0	136.0					4																	118005607		2203	4300	6503	SO:0001583	missense	0			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.943T>G	4.37:g.118005607A>C	ENSP00000309402:p.Leu315Val		Q8N2L7	Missense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.L315V	ENST00000310754.4	37	c.943	CCDS3707.1	4	.	.	.	.	.	.	.	.	.	.	A	6.876	0.531108	0.13127	.	.	ENSG00000174599	ENST00000310754	T	0.44482	0.92	3.59	2.4	0.29515	TRAM/LAG1/CLN8 homology domain (2);	0.228556	0.44902	D	0.000401	T	0.35248	0.0925	L	0.33485	1.01	0.09310	N	0.999999	B	0.32862	0.387	B	0.42959	0.403	T	0.27157	-1.0082	10	0.62326	D	0.03	-24.3027	5.7828	0.18316	0.8779:0.0:0.1221:0.0	.	315	Q8N609	TR1L1_HUMAN	V	315	ENSP00000309402:L315V	ENSP00000309402:L315V	L	-	1	2	TRAM1L1	118225055	1.000000	0.71417	0.338000	0.25549	0.057000	0.15508	1.721000	0.38032	0.732000	0.32470	-0.297000	0.09499	TTA	TRAM1L1	-	pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	ENSG00000174599		0.408	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	HGNC	protein_coding	OTTHUMT00000256513.1	-	0.00	81	0	A	NM_152402		118005607	-1	tier1	-	no_errors	ENST00000310754	ensembl	human	known	74_37	missense	38.46	56	35	SNP	0.297	C
TRAPPC8	22878	genome.wustl.edu	37	18	29453418	29453418	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:29453418delA	ENST00000283351.4	-	14	2372	c.2037delT	c.(2035-2037)tttfs	p.F679fs	TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.F625fs	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	679					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTCATGGCCAAAAAAAACCC	0.358																																																	0													50.0	49.0	49.0					18																	29453418		2203	4300	6503	SO:0001589	frameshift_variant	0			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.2037delT	18.37:g.29453418delA	ENSP00000283351:p.Phe679fs		A0JP15|B3KME5|Q9H0L2	Frame_Shift_Del	DEL	NULL	p.F679fs	ENST00000283351.4	37	c.2037	CCDS11901.1	18																																																																																			TRAPPC8	-	NULL	ENSG00000153339		0.358	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	TRAPPC8	HGNC	protein_coding	OTTHUMT00000255355.1		0.00	29	0	A	NM_014939		29453418	-1	tier1		no_errors	ENST00000283351	ensembl	human	known	74_37	frame_shift_del	42.86	20	15	DEL	1.000	-
TRAPPC9	83696	genome.wustl.edu	37	8	141231604	141231604	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:141231604A>G	ENST00000438773.2	-	17	2643	c.2510T>C	c.(2509-2511)gTg>gCg	p.V837A	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.V935A|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.V828A	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	837					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGGTGGGTTCACAGGTTTGCC	0.547																																																	0													139.0	111.0	121.0					8																	141231604		2203	4300	6503	SO:0001583	missense	0			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2510T>C	8.37:g.141231604A>G	ENSP00000405060:p.Val837Ala		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	pfam_TRAPP_II_complex_Trs120	p.V935A	ENST00000438773.2	37	c.2804	CCDS55278.1	8	.	.	.	.	.	.	.	.	.	.	A	7.702	0.693391	0.15039	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.5	-1.2	0.09554	.	1.436900	0.03829	N	0.268775	T	0.26159	0.0638	L	0.29908	0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.18461	-1.0336	9	0.02654	T	1	.	6.5936	0.22659	0.3302:0.1139:0.5559:0.0	.	935;837;828;935	A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2	.;TPPC9_HUMAN;.;.	A	935;828;837	.	ENSP00000373978:V828A	V	-	2	0	TRAPPC9	141300786	0.000000	0.05858	0.000000	0.03702	0.984000	0.73092	0.343000	0.19944	-0.471000	0.06891	0.533000	0.62120	GTG	TRAPPC9	-	pfam_TRAPP_II_complex_Trs120	ENSG00000167632		0.547	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	-	0.00	82	0	A	NM_031466		141231604	-1	tier1	-	no_errors	ENST00000389328	ensembl	human	known	74_37	missense	30.60	91	41	SNP	0.000	G
TRAPPC9	83696	genome.wustl.edu	37	8	141468445	141468445	+	5'Flank	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:141468445G>T	ENST00000438773.2	-	0	0				TRAPPC9_ENST00000389328.4_Silent_p.S73S|TRAPPC9_ENST00000389327.3_5'Flank	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9						cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GAGGCCCCGCGGAAGCCCACT	0.677																																																	0													22.0	20.0	21.0					8																	141468445		2199	4289	6488	SO:0001631	upstream_gene_variant	0			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187		8.37:g.141468445G>T	Exception_encountered		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	pfam_TRAPP_II_complex_Trs120	p.S73	ENST00000438773.2	37	c.219	CCDS55278.1	8																																																																																			TRAPPC9	-	NULL	ENSG00000167632		0.677	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	-	0.00	88	0	G	NM_031466		141468445	-1	tier1	-	no_errors	ENST00000389328	ensembl	human	known	74_37	silent	22.22	91	26	SNP	0.000	T
TRDN	10345	genome.wustl.edu	37	6	123703273	123703273	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:123703273delT	ENST00000398178.3	-	15	1176	c.1155delA	c.(1153-1155)aaafs	p.K385fs	TRDN_ENST00000334268.4_Frame_Shift_Del_p.K385fs	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	385					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CTTCTGCAGGTTTTTTTGTTT	0.299																																																	0													24.0	22.0	22.0					6																	123703273		1685	3841	5526	SO:0001589	frameshift_variant	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1155delA	6.37:g.123703273delT	ENSP00000381240:p.Lys385fs		A5D6W5|F5H2W7|Q6NSB8	Frame_Shift_Del	DEL	pfam_Asp-B-hydro/Triadin_dom	p.K385fs	ENST00000398178.3	37	c.1155	CCDS55053.1	6																																																																																			TRDN	-	NULL	ENSG00000186439		0.299	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding			0.00	12	0	T			123703273	-1	tier1		no_errors	ENST00000398178	ensembl	human	known	74_37	frame_shift_del	40.00	9	6	DEL	0.199	-
TRDN	10345	genome.wustl.edu	37	6	123786033	123786033	+	Intron	DEL	A	A	-	rs201431159		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:123786033delA	ENST00000398178.3	-	10	953				RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000587049.1_RNA|RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000418467.2_RNA|TRDN_ENST00000546248.1_Frame_Shift_Del_p.S297fs	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin						cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GATCTTTAAGAAAAAAAAAAG	0.388																																																	0													47.0	48.0	48.0					6																	123786033		1889	4111	6000	SO:0001627	intron_variant	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.931+17T>-	6.37:g.123786033delA			A5D6W5|F5H2W7|Q6NSB8	Frame_Shift_Del	DEL	pfam_Asp-B-hydro/Triadin_dom	p.S297fs	ENST00000398178.3	37	c.889	CCDS55053.1	6																																																																																			TRDN	-	NULL	ENSG00000186439		0.388	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding			0.00	29	0	A			123786033	-1	tier1		no_errors	ENST00000546248	ensembl	human	known	74_37	frame_shift_del	44.00	14	11	DEL	0.000	-
TRERF1	55809	genome.wustl.edu	37	6	42237239	42237239	+	Silent	SNP	G	G	A	rs149014572		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:42237239G>A	ENST00000372922.4	-	5	652	c.90C>T	c.(88-90)agC>agT	p.S30S	TRERF1_ENST00000354325.2_Silent_p.S30S|TRERF1_ENST00000372917.4_Silent_p.S30S|TRERF1_ENST00000340840.2_Silent_p.S30S|TRERF1_ENST00000541110.1_Silent_p.S30S	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	30					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGTTCAGCCCGCTGTGGACGC	0.567																																																	0								G		0,4406		0,0,2203	78.0	81.0	80.0		90	-8.9	0.0	6	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRERF1	NM_033502.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		30/1201	42237239	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.90C>T	6.37:g.42237239G>A			Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.S30	ENST00000372922.4	37	c.90	CCDS4867.1	6																																																																																			TRERF1	-	NULL	ENSG00000124496		0.567	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	-	0.00	107	0	G	NM_033502		42237239	-1	tier1	rs149014572	no_errors	ENST00000541110	ensembl	human	known	74_37	silent	33.33	48	24	SNP	0.000	A
TRHDE	29953	genome.wustl.edu	37	12	72665950	72665950	+	5'Flank	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:72665950delG	ENST00000261180.4	+	0	0				TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000550334.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme						cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCGCTGGAGTGGGGGGAGAAA	0.657																																																	0													50.0	64.0	60.0					12																	72665950		692	1591	2283	SO:0001631	upstream_gene_variant	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6			12.37:g.72665950delG	Exception_encountered		A5PL19|Q6UWJ4	RNA	DEL	-	NULL	ENST00000261180.4	37	NULL	CCDS9004.1	12																																																																																			TRHDE-AS1	-	-	ENSG00000236333		0.657	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE-AS1	HGNC	protein_coding	OTTHUMT00000405380.1		0.00	103	0	G	NM_013381		72665950	-1	tier1		no_errors	ENST00000435350	ensembl	human	known	74_37	rna	21.78	79	22	DEL	0.007	-
TRIM27	5987	genome.wustl.edu	37	6	28889703	28889703	+	Missense_Mutation	SNP	C	C	T	rs149594206		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:28889703C>T	ENST00000377199.3	-	2	838	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	TRIM27_ENST00000377194.3_Missense_Mutation_p.R161Q|TRIM27_ENST00000498117.1_5'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	161					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CCCCTGGGCCCGACGTCTCTT	0.463			T	RET	papillary thyroid																																			Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	0								C	GLN/ARG	0,3022		0,0,1511	164.0	176.0	172.0		482	3.4	1.0	6	dbSNP_134	172	1,5417		0,1,2708	no	missense	TRIM27	NM_006510.4	43	0,1,4219	TT,TC,CC		0.0185,0.0,0.0118	benign	161/514	28889703	1,8439	1511	2709	4220	SO:0001583	missense	0			Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.482G>A	6.37:g.28889703C>T	ENSP00000366404:p.Arg161Gln		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.R161Q	ENST00000377199.3	37	c.482	CCDS4654.1	6	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000875	0.54254	0.0	1.85E-4	ENSG00000204713	ENST00000377199;ENST00000377194	T;T	0.61742	0.62;0.08	3.4	3.4	0.38934	.	0.000000	0.38005	N	0.001857	T	0.31167	0.0788	N	0.17594	0.5	0.27965	N	0.936622	P;D;B	0.60575	0.875;0.988;0.246	B;P;B	0.50825	0.138;0.651;0.015	T	0.07520	-1.0768	10	0.29301	T	0.29	.	10.6193	0.45470	0.0:1.0:0.0:0.0	.	228;161;161	Q59EC6;P14373-2;P14373	.;.;TRI27_HUMAN	Q	161	ENSP00000366404:R161Q;ENSP00000366399:R161Q	ENSP00000366399:R161Q	R	-	2	0	TRIM27	28997682	0.755000	0.28372	0.999000	0.59377	0.996000	0.88848	0.838000	0.27572	2.200000	0.70718	0.655000	0.94253	CGG	TRIM27	-	NULL	ENSG00000204713		0.463	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM27	HGNC	protein_coding	OTTHUMT00000076442.2	-	0.00	59	0	C	NM_030950		28889703	-1	tier1	rs149594206	no_errors	ENST00000377199	ensembl	human	known	74_37	missense	78.72	10	37	SNP	0.999	T
TRIM32	22954	genome.wustl.edu	37	9	119461051	119461051	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:119461051C>T	ENST00000450136.1	+	2	1191	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	TRIM32_ENST00000373983.2_Missense_Mutation_p.R344W|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	344					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R344W(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						TGCTAAACAGCGGGGTCCTGA	0.557																																					Esophageal Squamous(92;212 1916 19711 26951)												2	Substitution - Missense(2)	prostate(2)											47.0	52.0	50.0					9																	119461051		2203	4300	6503	SO:0001583	missense	0			U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1030C>T	9.37:g.119461051C>T	ENSP00000408292:p.Arg344Trp		Q9NQP8	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.R344W	ENST00000450136.1	37	c.1030	CCDS6817.1	9	.	.	.	.	.	.	.	.	.	.	C	13.14	2.146885	0.37923	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	D;D	0.83673	-1.75;-1.75	5.05	2.83	0.33086	.	0.248562	0.32002	N	0.006728	T	0.75295	0.3830	N	0.19112	0.55	0.39811	D	0.972707	D	0.62365	0.991	P	0.50378	0.639	T	0.73538	-0.3951	9	.	.	.	-12.7734	10.6704	0.45755	0.5435:0.4565:0.0:0.0	.	344	Q13049	TRI32_HUMAN	W	344	ENSP00000408292:R344W;ENSP00000363095:R344W	.	R	+	1	2	TRIM32	118500872	0.998000	0.40836	0.999000	0.59377	0.709000	0.40893	1.109000	0.31135	1.194000	0.43101	0.650000	0.86243	CGG	TRIM32	-	NULL	ENSG00000119401		0.557	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM32	HGNC	protein_coding	OTTHUMT00000055466.2	-	0.00	12	0	C	NM_012210		119461051	+1	tier1	-	no_errors	ENST00000373983	ensembl	human	known	74_37	missense	47.37	10	9	SNP	1.000	T
TRIM41	90933	genome.wustl.edu	37	5	180662356	180662356	+	3'UTR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:180662356C>T	ENST00000315073.5	+	0	3184				TRIM41_ENST00000351937.5_Missense_Mutation_p.R512W	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCATAGACCGGCCAGAATT	0.433																																																	0													84.0	80.0	81.0					5																	180662356		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.*581C>T	5.37:g.180662356C>T			B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R512W	ENST00000315073.5	37	c.1534	CCDS4466.1	5	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111688	0.37242	.	.	ENSG00000146063	ENST00000351937	T	0.40225	1.04	4.45	0.542	0.17174	.	.	.	.	.	T	0.20333	0.0489	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04017	-1.0984	9	0.66056	D	0.02	.	6.3888	0.21576	0.0:0.3531:0.0:0.6469	.	512	Q8WV44-2	.	W	512	ENSP00000336749:R512W	ENSP00000336749:R512W	R	+	1	2	TRIM41	180594962	0.998000	0.40836	0.997000	0.53966	0.995000	0.86356	0.109000	0.15417	0.089000	0.17243	0.561000	0.74099	CGG	TRIM41	-	pfscan_B30.2/SPRY	ENSG00000146063		0.433	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM41	HGNC	protein_coding	OTTHUMT00000253574.3	-	0.00	56	0	C	NM_201627		180662356	+1	tier1	-	no_errors	ENST00000351937	ensembl	human	known	74_37	missense	30.77	36	16	SNP	0.997	T
TRIM43	129868	genome.wustl.edu	37	2	96262096	96262096	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:96262096A>G	ENST00000272395.2	+	4	790	c.654A>G	c.(652-654)aaA>aaG	p.K218K		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	218						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						GTTGGGTCAAAATGGATCAAA	0.398																																																	0													11.0	11.0	11.0					2																	96262096		2145	4236	6381	SO:0001819	synonymous_variant	0			BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.654A>G	2.37:g.96262096A>G			Q53TJ7	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.K218	ENST00000272395.2	37	c.654	CCDS2015.1	2																																																																																			TRIM43	-	NULL	ENSG00000144015		0.398	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM43	HGNC	protein_coding	OTTHUMT00000252784.1	-	0.00	149	0	A	NM_138800		96262096	+1	tier1	-	no_errors	ENST00000272395	ensembl	human	known	74_37	silent	28.93	86	35	SNP	0.030	G
TRIM45	80263	genome.wustl.edu	37	1	117661014	117661014	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:117661014A>G	ENST00000256649.4	-	2	1390	c.864T>C	c.(862-864)atT>atC	p.I288I	TRIM45_ENST00000369461.3_Silent_p.I231I|TRIM45_ENST00000369464.3_Silent_p.I288I	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	288					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GATGCTCCTCAATGGCCTTAA	0.557																																																	0													74.0	75.0	75.0					1																	117661014		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.864T>C	1.37:g.117661014A>G			Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING	p.I288	ENST00000256649.4	37	c.864	CCDS893.1	1																																																																																			TRIM45	-	smart_Bbox_C	ENSG00000134253		0.557	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM45	HGNC	protein_coding	OTTHUMT00000033503.1	-	0.00	56	0	A	NM_025188		117661014	-1	tier1	-	no_errors	ENST00000256649	ensembl	human	known	74_37	silent	40.00	18	12	SNP	0.643	G
TRIM46	80128	genome.wustl.edu	37	1	155150676	155150676	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:155150676C>T	ENST00000334634.4	+	6	1108	c.1108C>T	c.(1108-1110)Ctt>Ttt	p.L370F	TRIM46_ENST00000392451.2_Missense_Mutation_p.L370F|TRIM46_ENST00000543729.1_Missense_Mutation_p.L377F|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368382.1_Missense_Mutation_p.L347F|TRIM46_ENST00000368383.3_Missense_Mutation_p.L370F|TRIM46_ENST00000545012.1_Missense_Mutation_p.L244F|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368385.4_Missense_Mutation_p.L370F	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	370	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCAGGAAGTACTTAAGGAAAC	0.612																																																	0													33.0	35.0	34.0					1																	155150676		2203	4300	6503	SO:0001583	missense	0				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1108C>T	1.37:g.155150676C>T	ENSP00000334657:p.Leu370Phe		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.L370F	ENST00000334634.4	37	c.1108	CCDS1097.1	1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.491266	0.64074	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000545012;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T;T	0.60672	0.23;0.95;0.95;0.17;0.95;0.95;0.95	3.59	2.68	0.31781	COS domain (1);	0.187722	0.35378	N	0.003254	T	0.65080	0.2657	M	0.78637	2.42	0.43372	D	0.99546	D;D;D;D	0.89917	1.0;0.998;1.0;0.999	D;D;D;D	0.97110	1.0;0.986;1.0;0.994	T	0.69022	-0.5255	10	0.87932	D	0	.	8.9974	0.36061	0.0:0.8861:0.0:0.1139	.	370;347;370;370	Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;TRI46_HUMAN;.	F	377;328;370;244;370;370;347;370	ENSP00000442719:L377F;ENSP00000357369:L370F;ENSP00000440254:L244F;ENSP00000376245:L370F;ENSP00000357367:L370F;ENSP00000357366:L347F;ENSP00000334657:L370F	ENSP00000334657:L370F	L	+	1	0	TRIM46	153417300	1.000000	0.71417	0.626000	0.29213	0.987000	0.75469	7.196000	0.77805	0.857000	0.35407	0.313000	0.20887	CTT	TRIM46	-	NULL	ENSG00000163462		0.612	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1	-	0.00	56	0	C	NM_025058		155150676	+1	tier1	-	no_errors	ENST00000334634	ensembl	human	known	74_37	missense	31.25	44	20	SNP	0.994	T
TRIM51	84767	genome.wustl.edu	37	11	55653610	55653610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:55653610delA	ENST00000449290.2	+	3	515	c.423delA	c.(421-423)ctafs	p.L141fs	TRIM51_ENST00000244891.3_5'UTR	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	141						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										AGGAGCTCCTAAAAAAAATGC	0.403																																																	0										1,23,4240		0,0,1,10,3,2118	50.0	47.0	48.0				0.0	11		48	1,23,8230		0,0,1,8,7,4111	no	codingComplex	SPRYD5	NM_032681.3		0,0,2,18,10,6229	A1A1,A1A2,A1R,A2A2,A2R,RR		0.2908,0.5629,0.3834			55653610	2,46,12470	692	1591	2283	SO:0001589	frameshift_variant	0			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.423delA	11.37:g.55653610delA	ENSP00000395086:p.Leu141fs		A6NMG2	Frame_Shift_Del	DEL	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.M144fs	ENST00000449290.2	37	c.423		11																																																																																			TRIM51	-	NULL	ENSG00000124900		0.403	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	TRIM51	HGNC	protein_coding	OTTHUMT00000391522.1		0.00	200	0	A	NM_032681		55653610	+1	tier1		no_errors	ENST00000449290	ensembl	human	known	74_37	frame_shift_del	38.03	145	89	DEL	0.001	-
TRIM52	84851	genome.wustl.edu	37	5	180687593	180687593	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:180687593G>T	ENST00000327767.4	-	1	526	c.222C>A	c.(220-222)gcC>gcA	p.A74A	TRIM52-AS1_ENST00000509252.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA|TRIM52_ENST00000514805.1_5'UTR|TRIM52-AS1_ENST00000507434.1_RNA|CTC-338M12.4_ENST00000511331.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	74	Glu-rich.				positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		ATCCATCCATGGCCCCCACCG	0.577																																																	0													163.0	123.0	137.0					5																	180687593		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19024	protein-coding gene	gene with protein product			"""tripartite motif-containing 52"""				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.222C>A	5.37:g.180687593G>T				Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.A74	ENST00000327767.4	37	c.222	CCDS4467.1	5																																																																																			TRIM52	-	smart_Znf_RING	ENSG00000183718		0.577	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM52	HGNC	protein_coding	OTTHUMT00000253572.3		0.00	73	0	G	NM_032765		180687593	-1			no_errors	ENST00000327767	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.337	T
TRIM65	201292	genome.wustl.edu	37	17	73886925	73886925	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:73886925G>T	ENST00000269383.3	-	6	1554	c.1489C>A	c.(1489-1491)Ctg>Atg	p.L497M		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	497	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACAGGGTCAGGGTCCTACCC	0.637																																																	0													26.0	26.0	26.0					17																	73886925		2198	4294	6492	SO:0001583	missense	0			BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	27316	protein-coding gene	gene with protein product			"""tripartite motif-containing 65"""			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.1489C>A	17.37:g.73886925G>T	ENSP00000269383:p.Leu497Met		Q4G0F0|Q6DKJ6|Q9BRP6	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L497M	ENST00000269383.3	37	c.1489	CCDS11732.1	17	.	.	.	.	.	.	.	.	.	.	G	16.76	3.213647	0.58452	.	.	ENSG00000141569	ENST00000269383	T	0.75821	-0.97	5.2	0.673	0.17941	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.345297	0.20876	N	0.084096	T	0.76800	0.4038	L	0.60904	1.88	0.24444	N	0.99451	D	0.69078	0.997	D	0.68621	0.959	T	0.63910	-0.6530	10	0.59425	D	0.04	.	2.1606	0.03824	0.1882:0.3257:0.3612:0.1249	.	497	Q6PJ69	TRI65_HUMAN	M	497	ENSP00000269383:L497M	ENSP00000269383:L497M	L	-	1	2	TRIM65	71398520	0.252000	0.23972	0.944000	0.38274	0.993000	0.82548	0.631000	0.24568	0.581000	0.29539	0.561000	0.74099	CTG	TRIM65	-	superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000141569		0.637	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM65	HGNC	protein_coding	OTTHUMT00000255170.2		0.00	81	0	G	NM_173547		73886925	-1			no_errors	ENST00000269383	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.335	T
TRIM67	440730	genome.wustl.edu	37	1	231299574	231299574	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:231299574G>A	ENST00000366653.5	+	1	859	c.859G>A	c.(859-861)Gcg>Acg	p.A287T	TRIM67_ENST00000366652.2_Missense_Mutation_p.A287T|TRIM67_ENST00000449018.3_Missense_Mutation_p.A225T|TRIM67_ENST00000444294.3_Missense_Mutation_p.A287T			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	287					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CCCGGGAGGCGCGGGGGCGGG	0.756																																																	0													4.0	5.0	5.0					1																	231299574		1621	3723	5344	SO:0001583	missense	0			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.859G>A	1.37:g.231299574G>A	ENSP00000355613:p.Ala287Thr		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.A287T	ENST00000366653.5	37	c.859	CCDS44333.1	1	.	.	.	.	.	.	.	.	.	.	G	1.864	-0.461966	0.04508	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.70164	-0.46;-0.36;-0.4;-0.46	4.5	-1.21	0.09524	.	0.598483	0.13810	N	0.361199	T	0.38746	0.1052	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.14578	0.011	T	0.17715	-1.0360	10	0.31617	T	0.26	.	5.9273	0.19120	0.3723:0.2505:0.3772:0.0	.	287	Q6ZTA4	TRI67_HUMAN	T	287;287;225;287	ENSP00000412124:A287T;ENSP00000355612:A287T;ENSP00000400163:A225T;ENSP00000355613:A287T	ENSP00000355612:A287T	A	+	1	0	TRIM67	229366197	0.953000	0.32496	0.001000	0.08648	0.023000	0.10783	1.399000	0.34566	-0.070000	0.12908	-0.424000	0.05967	GCG	TRIM67	-	NULL	ENSG00000119283		0.756	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3	-	0.00	10	0	G	NM_001004342		231299574	+1	tier1	-	no_errors	ENST00000366652	ensembl	human	known	74_37	missense	50.00	4	4	SNP	0.001	A
TRIM8	81603	genome.wustl.edu	37	10	104414960	104414960	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:104414960G>A	ENST00000302424.7	+	3	912	c.790G>A	c.(790-792)Gag>Aag	p.E264K	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	264					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTTCTGCAGCGAGAACGCAGC	0.627																																																	0													56.0	53.0	54.0					10																	104414960		2203	4300	6503	SO:0001583	missense	0			AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.790G>A	10.37:g.104414960G>A	ENSP00000302120:p.Glu264Lys		A6NI31|Q9C028	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E264K	ENST00000302424.7	37	c.790	CCDS31274.1	10	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335867	0.60853	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.60299	0.2	5.55	5.55	0.83447	.	0.053328	0.85682	D	0.000000	T	0.44644	0.1303	L	0.27053	0.805	0.80722	D	1	B	0.30605	0.287	B	0.19148	0.024	T	0.31251	-0.9950	10	0.22109	T	0.4	.	19.5099	0.95137	0.0:0.0:1.0:0.0	.	264	Q9BZR9	TRIM8_HUMAN	K	264;263	ENSP00000302120:E264K	ENSP00000302120:E264K	E	+	1	0	TRIM8	104404950	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.369000	0.97156	2.627000	0.88993	0.561000	0.74099	GAG	TRIM8	-	NULL	ENSG00000171206		0.627	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM8	HGNC	protein_coding	OTTHUMT00000050084.3	-	0.00	67	0	G	NM_030912		104414960	+1	tier1	-	no_errors	ENST00000302424	ensembl	human	known	74_37	missense	29.27	29	12	SNP	1.000	A
TRIO	7204	genome.wustl.edu	37	5	14419946	14419946	+	Silent	SNP	C	C	T	rs540921917	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:14419946C>T	ENST00000344204.4	+	34	5043	c.5019C>T	c.(5017-5019)aaC>aaT	p.N1673N	TRIO_ENST00000537187.1_Silent_p.N1673N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1673	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCAACAGCAACGAGCTGACCA	0.617													C|||	2	0.000399361	0.0	0.0	5008	,	,		19442	0.0		0.0	False		,,,				2504	0.002																0													56.0	48.0	51.0					5																	14419946		2203	4300	6503	SO:0001819	synonymous_variant	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5019C>T	5.37:g.14419946C>T			D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.N1673	ENST00000344204.4	37	c.5019	CCDS3883.1	5																																																																																			TRIO	-	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000038382		0.617	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	-	0.00	38	0	C	NM_007118		14419946	+1	tier1	-	no_errors	ENST00000344204	ensembl	human	known	74_37	silent	62.50	24	40	SNP	0.041	T
TRIOBP	11078	genome.wustl.edu	37	22	38130773	38130773	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:38130773delG	ENST00000406386.3	+	9	4685	c.4430delG	c.(4429-4431)tggfs	p.W1477fs		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1477					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGGGAGCATGGGGGGGCACT	0.667																																																	0													10.0	12.0	11.0					22																	38130773		1748	3906	5654	SO:0001589	frameshift_variant	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4430delG	22.37:g.38130773delG	ENSP00000384312:p.Trp1477fs		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G1479fs	ENST00000406386.3	37	c.4430	CCDS43015.1	22																																																																																			TRIOBP	-	NULL	ENSG00000100106		0.667	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2		0.00	48	0	G			38130773	+1	tier1		no_errors	ENST00000406386	ensembl	human	known	74_37	frame_shift_del	43.24	21	16	DEL	0.003	-
TRIP10	9322	genome.wustl.edu	37	19	6743770	6743770	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:6743770G>A	ENST00000313244.9	+	7	600	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	TRIP10_ENST00000600428.1_Missense_Mutation_p.E81K|TRIP10_ENST00000313285.8_Missense_Mutation_p.E189K|TRIP10_ENST00000596758.1_Missense_Mutation_p.E189K			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	189	F-BAR domain.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AAGCAAAAACGAATATGCGGC	0.527																																																	0													186.0	163.0	170.0					19																	6743770		2203	4300	6503	SO:0001583	missense	0			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.565G>A	19.37:g.6743770G>A	ENSP00000320117:p.Glu189Lys		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.E189K	ENST00000313244.9	37	c.565		19	.	.	.	.	.	.	.	.	.	.	G	18.97	3.735534	0.69189	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	T;T	0.49720	0.77;2.35	4.78	4.78	0.61160	.	0.054132	0.64402	D	0.000001	T	0.66416	0.2787	M	0.77103	2.36	0.58432	D	0.999997	D;D;D	0.71674	0.998;0.993;0.969	D;P;B	0.64321	0.924;0.893;0.314	T	0.71467	-0.4584	10	0.87932	D	0	-25.2314	13.6758	0.62454	0.0:0.0:1.0:0.0	.	189;189;189	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	K	189	ENSP00000320493:E189K;ENSP00000320117:E189K	ENSP00000320117:E189K	E	+	1	0	TRIP10	6694770	1.000000	0.71417	0.993000	0.49108	0.552000	0.35366	8.549000	0.90672	2.373000	0.80994	0.462000	0.41574	GAA	TRIP10	-	NULL	ENSG00000125733		0.527	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2	-	0.00	35	0	G			6743770	+1	tier1	-	no_errors	ENST00000313244	ensembl	human	known	74_37	missense	42.31	15	11	SNP	1.000	A
TRIP10	9322	genome.wustl.edu	37	19	6750380	6750380	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:6750380delC	ENST00000313244.9	+	13	1508	c.1473delC	c.(1471-1473)gacfs	p.D491fs	TRIP10_ENST00000600428.1_Frame_Shift_Del_p.D327fs|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000313285.8_Frame_Shift_Del_p.D435fs|TRIP10_ENST00000596758.1_Frame_Shift_Del_p.D435fs			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	491	Interaction with CDC42.|Interaction with DNM2 and WASL. {ECO:0000250}.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with FASLG and localization to lysosomes.			ARPPDPPASAPPD -> KHPIICRLIHFSN (in Ref. 10; AAC41729). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GGCCTCCCGACCCCCCCGCTA	0.657																																																	0													40.0	51.0	47.0					19																	6750380		2202	4300	6502	SO:0001589	frameshift_variant	0			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1473delC	19.37:g.6750380delC	ENSP00000320117:p.Asp491fs		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Frame_Shift_Del	DEL	pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.A494fs	ENST00000313244.9	37	c.1473		19																																																																																			TRIP10	-	NULL	ENSG00000125733		0.657	TRIP10-003	KNOWN	basic	protein_coding	TRIP10	HGNC	protein_coding	OTTHUMT00000317129.2		0.00	69	0	C			6750380	+1	tier1		no_errors	ENST00000313244	ensembl	human	known	74_37	frame_shift_del	30.91	38	17	DEL	0.994	-
TRIP12	9320	genome.wustl.edu	37	2	230668381	230668381	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:230668381G>A	ENST00000283943.5	-	19	2857	c.2679C>T	c.(2677-2679)agC>agT	p.S893S	TRIP12_ENST00000389044.4_Silent_p.S941S|TRIP12_ENST00000389045.3_Silent_p.S623S|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	893					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCAGGTCTTGGCTTGACAGCA	0.343																																																	0													77.0	77.0	77.0					2																	230668381		2203	4300	6503	SO:0001819	synonymous_variant	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2679C>T	2.37:g.230668381G>A			D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.S893	ENST00000283943.5	37	c.2679	CCDS33391.1	2																																																																																			TRIP12	-	superfamily_ARM-type_fold	ENSG00000153827		0.343	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	-	0.00	50	0	G	NM_004238		230668381	-1	tier1	-	no_errors	ENST00000283943	ensembl	human	known	74_37	silent	6.15	61	4	SNP	1.000	A
TRIP12	9320	genome.wustl.edu	37	2	230672543	230672544	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:230672543_230672544insA	ENST00000283943.5	-	16	2410_2411	c.2232_2233insT	c.(2230-2235)tttgcafs	p.A745fs	TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.A793fs|TRIP12_ENST00000389045.3_Frame_Shift_Ins_p.A448fs|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	745					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTATCAACTGCAAAAATGCCTT	0.381																																																	0																																										SO:0001589	frameshift_variant	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2233dupT	2.37:g.230672548_230672548dupA	ENSP00000283943:p.Ala745fs		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Ins	INS	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.A744fs	ENST00000283943.5	37	c.2233_2232	CCDS33391.1	2																																																																																			TRIP12	-	superfamily_ARM-type_fold	ENSG00000153827		0.381	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3		0.00	65	0	-	NM_004238		230672544	-1	tier1		no_errors	ENST00000283943	ensembl	human	known	74_37	frame_shift_ins	36.07	39	22	INS	1.000:1.000	A
TRMT61B	55006	genome.wustl.edu	37	2	29087951	29087951	+	Missense_Mutation	SNP	T	T	C	rs553131828		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:29087951T>C	ENST00000306108.5	-	2	757	c.734A>G	c.(733-735)aAc>aGc	p.N245S		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	245					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						ATCACCTGGGTTGATATCCAT	0.398													T|||	1	0.000199681	0.0	0.0	5008	,	,		18541	0.0		0.0	False		,,,				2504	0.001																0													70.0	62.0	65.0					2																	29087951		2203	4300	6503	SO:0001583	missense	0			BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.734A>G	2.37:g.29087951T>C	ENSP00000302801:p.Asn245Ser		Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	pfam_tRNA_MeTrfase_GCD14,pfam_PCMT	p.N245S	ENST00000306108.5	37	c.734	CCDS1768.1	2	.	.	.	.	.	.	.	.	.	.	T	0.102	-1.150464	0.01700	.	.	ENSG00000171103	ENST00000306108	T	0.21932	1.98	5.07	-1.46	0.08800	.	0.853366	0.10256	N	0.696611	T	0.07413	0.0187	N	0.03050	-0.425	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40664	-0.9551	10	0.19590	T	0.45	-15.6842	7.3699	0.26796	0.0:0.2818:0.1169:0.6012	.	245;245	F8WDR2;Q9BVS5	.;TR61B_HUMAN	S	245	ENSP00000302801:N245S	ENSP00000302801:N245S	N	-	2	0	TRMT61B	28941455	0.836000	0.29430	0.035000	0.18076	0.145000	0.21501	-0.080000	0.11339	-0.534000	0.06315	-0.859000	0.03014	AAC	TRMT61B	-	pfam_tRNA_MeTrfase_GCD14,pfam_PCMT	ENSG00000171103		0.398	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT61B	HGNC	protein_coding	OTTHUMT00000250224.1	-	0.00	36	0	T	NM_017910		29087951	-1	tier1	-	no_errors	ENST00000306108	ensembl	human	known	74_37	missense	43.14	29	22	SNP	0.305	C
TRIP12	9320	genome.wustl.edu	37	2	230636243	230636243	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:230636243G>T	ENST00000283943.5	-	38	5753	c.5575C>A	c.(5575-5577)Ccg>Acg	p.P1859T	TRIP12_ENST00000389044.4_Missense_Mutation_p.P1907T|TRIP12_ENST00000389045.3_Missense_Mutation_p.P1589T	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1859					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ACTTCCTCCGGGTAGAAGTAC	0.398																																																	0													66.0	65.0	65.0					2																	230636243		2203	4300	6503	SO:0001583	missense	0			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.5575C>A	2.37:g.230636243G>T	ENSP00000283943:p.Pro1859Thr		D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.P1859T	ENST00000283943.5	37	c.5575	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614716	0.87359	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.50001	0.76;0.76;0.76	5.64	5.64	0.86602	HECT (4);	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	M	0.70842	2.15	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.997;0.997;0.997	T	0.72272	-0.4342	10	0.87932	D	0	.	19.6967	0.96029	0.0:0.0:1.0:0.0	.	1589;1907;1859	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	T	1859;1589;1907	ENSP00000283943:P1859T;ENSP00000373697:P1589T;ENSP00000373696:P1907T	ENSP00000283943:P1859T	P	-	1	0	TRIP12	230344487	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.257000	0.95545	2.658000	0.90341	0.563000	0.77884	CCG	TRIP12	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000153827		0.398	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3		0.00	26	0	G	NM_004238		230636243	-1			no_errors	ENST00000283943	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T
TROVE2	6738	genome.wustl.edu	37	1	193053997	193053998	+	3'UTR	DEL	AA	AA	-	rs201693727|rs549404223		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:193053997_193053998delAA	ENST00000367446.3	+	0	1963_1964				TROVE2_ENST00000400968.2_3'UTR|TROVE2_ENST00000432079.1_3'UTR|TROVE2_ENST00000367443.1_Intron|TROVE2_ENST00000367445.3_Intron|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367444.3_Intron	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2						cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TACCTTACTGAAAAAAAAAAAA	0.356																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.*137AA>-	1.37:g.193054007_193054008delAA			B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	RNA	DEL	-	NULL	ENST00000367446.3	37	NULL	CCDS1379.1	1																																																																																			TROVE2	-	-	ENSG00000116747		0.356	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	HGNC	protein_coding	OTTHUMT00000086688.1		0.00	28	0	AA	NM_004600		193053998	+1	tier1		no_errors	ENST00000460715	ensembl	human	known	74_37	rna	27.27	32	12	DEL	0.000:0.002	-
TRPA1	8989	genome.wustl.edu	37	8	72966004	72966004	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:72966004C>T	ENST00000262209.4	-	13	1835	c.1628G>A	c.(1627-1629)cGc>cAc	p.R543H	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	543					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTCATCCAGGCGATCTGTGCA	0.473																																																	0													83.0	69.0	74.0					8																	72966004		2203	4300	6503	SO:0001583	missense	0			Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1628G>A	8.37:g.72966004C>T	ENSP00000262209:p.Arg543His		A6NIN6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R543H	ENST00000262209.4	37	c.1628	CCDS34908.1	8	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437351	0.25900	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.71222	-0.55;-0.55	5.21	-0.682	0.11339	Ankyrin repeat-containing domain (4);	0.378160	0.31257	N	0.007976	T	0.44201	0.1282	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.14578	0.011	T	0.31752	-0.9932	10	0.56958	D	0.05	-0.0685	7.079	0.25221	0.1222:0.5741:0.0:0.3037	.	543	O75762	TRPA1_HUMAN	H	395;543	ENSP00000428151:R395H;ENSP00000262209:R543H	ENSP00000262209:R543H	R	-	2	0	TRPA1	73128558	0.223000	0.23663	0.220000	0.23810	0.706000	0.40770	0.281000	0.18810	-0.303000	0.08856	0.561000	0.74099	CGC	TRPA1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000104321		0.473	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPA1	HGNC	protein_coding	OTTHUMT00000379079.2	-	0.00	88	0	C	NM_007332		72966004	-1	tier1	-	no_errors	ENST00000262209	ensembl	human	known	74_37	missense	38.89	77	49	SNP	0.072	T
TRPC3	7222	genome.wustl.edu	37	4	122854106	122854106	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:122854106T>C	ENST00000379645.3	-	2	380	c.307A>G	c.(307-309)Aat>Gat	p.N103D	TRPC3_ENST00000513531.1_Missense_Mutation_p.N30D|TRPC3_ENST00000264811.5_Missense_Mutation_p.N30D	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	18					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCGCGGTCATTGAACATGAAG	0.642																																																	0													31.0	33.0	32.0					4																	122854106		2203	4299	6502	SO:0001583	missense	0			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.307A>G	4.37:g.122854106T>C	ENSP00000368966:p.Asn103Asp		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.N103D	ENST00000379645.3	37	c.307	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	T	14.18	2.459728	0.43736	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531;ENST00000502968	T;T;T;D	0.86562	-0.77;-0.99;-0.87;-2.14	5.8	1.9	0.25705	.	0.288882	0.36303	N	0.002679	T	0.76564	0.4005	N	0.19112	0.55	0.36593	D	0.87422	B;B	0.22480	0.07;0.045	B;B	0.30855	0.083;0.121	T	0.66638	-0.5873	10	0.33141	T	0.24	-18.58	7.6204	0.28181	0.0:0.0696:0.267:0.6634	.	30;103	E9PCJ9;Q5G1L5	.;.	D	30;103;30;30	ENSP00000264811:N30D;ENSP00000368966:N103D;ENSP00000426899:N30D;ENSP00000422214:N30D	ENSP00000264811:N30D	N	-	1	0	TRPC3	123073556	1.000000	0.71417	0.789000	0.31954	0.521000	0.34408	4.025000	0.57225	0.097000	0.17492	-0.321000	0.08615	AAT	TRPC3	-	tigrfam_TRP_channel	ENSG00000138741		0.642	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	-	0.00	40	0	T	NM_003305		122854106	-1	tier1	-	no_errors	ENST00000379645	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	C
TRPM6	140803	genome.wustl.edu	37	9	77353400	77353400	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:77353400A>G	ENST00000360774.1	-	36	5936	c.5699T>C	c.(5698-5700)cTg>cCg	p.L1900P	TRPM6_ENST00000361255.3_Missense_Mutation_p.L1895P|TRPM6_ENST00000449912.2_Missense_Mutation_p.L1895P|TRPM6_ENST00000451710.3_Missense_Mutation_p.L1904P|TRPM6_ENST00000376871.3_Missense_Mutation_p.L737P|TRPM6_ENST00000376864.4_Missense_Mutation_p.L1904P|TRPM6_ENST00000376872.3_Missense_Mutation_p.L855P	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1900	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAGCTCCTCCAGGGTGTTGGT	0.468																																																	0													155.0	140.0	145.0					9																	77353400		2203	4300	6503	SO:0001583	missense	0			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5699T>C	9.37:g.77353400A>G	ENSP00000354006:p.Leu1900Pro		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.L1904P	ENST00000360774.1	37	c.5711	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611003	0.87258	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.08807	3.05;3.05;3.05;3.05;3.05;3.05;3.05	5.94	5.94	0.96194	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.26195	0.0639	L	0.53671	1.685	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.998;1.0	T	0.00275	-1.1856	10	0.87932	D	0	.	16.3947	0.83586	1.0:0.0:0.0:0.0	.	447;733;851;1900;1895;1895	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	P	1900;1904;855;737;1895;1895;446;1904	ENSP00000354006:L1900P;ENSP00000407341:L1904P;ENSP00000366068:L855P;ENSP00000366067:L737P;ENSP00000396672:L1895P;ENSP00000354962:L1895P;ENSP00000366060:L1904P	ENSP00000354006:L1900P	L	-	2	0	TRPM6	76543220	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.098000	0.94202	2.272000	0.75746	0.459000	0.35465	CTG	TRPM6	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	ENSG00000119121		0.468	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	-	0.00	72	0	A	NM_017662		77353400	-1	tier1	-	no_errors	ENST00000451710	ensembl	human	known	74_37	missense	39.51	49	32	SNP	1.000	G
TRPS1	7227	genome.wustl.edu	37	8	116599766	116599766	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:116599766A>G	ENST00000220888.5	-	4	2282	c.2123T>C	c.(2122-2124)cTg>cCg	p.L708P	TRPS1_ENST00000395715.3_Missense_Mutation_p.L721P|TRPS1_ENST00000519076.1_Missense_Mutation_p.L462P|TRPS1_ENST00000519674.1_Missense_Mutation_p.L708P|TRPS1_ENST00000520276.1_Missense_Mutation_p.L712P			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	708	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAAGTGCTCCAGTAGTGACTG	0.502									Langer-Giedion syndrome																																								0													133.0	133.0	133.0					8																	116599766		2009	4171	6180	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2123T>C	8.37:g.116599766A>G	ENSP00000220888:p.Leu708Pro		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.L721P	ENST00000220888.5	37	c.2162		8	.	.	.	.	.	.	.	.	.	.	A	20.8	4.054126	0.75960	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	5.86	5.86	0.93980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.64402	D	0.000001	T	0.29716	0.0742	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.01617	-1.1311	10	0.87932	D	0	.	16.2668	0.82588	1.0:0.0:0.0:0.0	.	712;708;721	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	P	721;708;462;712;708	ENSP00000379065:L721P;ENSP00000220888:L708P;ENSP00000428910:L462P;ENSP00000428680:L712P;ENSP00000429174:L708P	ENSP00000220888:L708P	L	-	2	0	TRPS1	116668941	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.425000	0.80255	2.240000	0.73641	0.533000	0.62120	CTG	TRPS1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000104447		0.502	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	-	0.00	41	0	A	NM_014112		116599766	-1	tier1	-	no_errors	ENST00000395715	ensembl	human	known	74_37	missense	28.00	54	21	SNP	1.000	G
TSC1	7248	genome.wustl.edu	37	9	135779102	135779102	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:135779102C>T	ENST00000298552.3	-	17	2365	c.2144G>A	c.(2143-2145)cGg>cAg	p.R715Q	TSC1_ENST00000440111.2_Missense_Mutation_p.R715Q|TSC1_ENST00000545250.1_Missense_Mutation_p.R664Q	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	715					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCGCCTGTTCCGGAGGGCATG	0.552			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	1	Unknown(1)	bone(1)											72.0	71.0	71.0					9																	135779102		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2144G>A	9.37:g.135779102C>T	ENSP00000298552:p.Arg715Gln		B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.R715Q	ENST00000298552.3	37	c.2144	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.155851	0.94686	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;D	0.89810	-2.57;-2.57;-2.57	5.2	4.29	0.51040	.	0.000000	0.85682	D	0.000000	D	0.93357	0.7882	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93004	0.6426	10	0.48119	T	0.1	-17.7425	13.2358	0.59969	0.0:0.9214:0.0:0.0786	.	664;715	B7Z897;Q92574	.;TSC1_HUMAN	Q	715;715;664	ENSP00000298552:R715Q;ENSP00000394524:R715Q;ENSP00000444017:R664Q	ENSP00000298552:R715Q	R	-	2	0	TSC1	134768923	1.000000	0.71417	0.786000	0.31890	0.912000	0.54170	6.084000	0.71335	2.419000	0.82065	0.557000	0.71058	CGG	TSC1	-	pfam_Hamartin	ENSG00000165699		0.552	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	-	0.00	47	0	C			135779102	-1	tier1	-	no_errors	ENST00000298552	ensembl	human	known	74_37	missense	34.29	23	12	SNP	1.000	T
TSC2	7249	genome.wustl.edu	37	16	2126499	2126499	+	Missense_Mutation	SNP	G	G	A	rs397515046		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:2126499G>A	ENST00000219476.3	+	25	3380	c.2750G>A	c.(2749-2751)cGg>cAg	p.R917Q	TSC2_ENST00000382538.6_Missense_Mutation_p.R868Q|TSC2_ENST00000353929.4_Missense_Mutation_p.R917Q|TSC2_ENST00000401874.2_Missense_Mutation_p.R917Q|TSC2_ENST00000350773.4_Missense_Mutation_p.R917Q|TSC2_ENST00000439673.2_Missense_Mutation_p.R880Q|TSC2_ENST00000568454.1_Missense_Mutation_p.R928Q	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	917					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGGGCCTGCGGTCCAATGTC	0.642			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													109.0	101.0	104.0					16																	2126499		2198	4300	6498	SO:0001583	missense	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2750G>A	16.37:g.2126499G>A	ENSP00000219476:p.Arg917Gln		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.R917Q	ENST00000219476.3	37	c.2750	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523759	0.85600	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D;D	0.88277	-2.33;-2.26;-2.26;-2.36;-2.31;-2.33	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.89121	0.6625	N	0.20401	0.57	0.80722	D	1	P;P;P;D;P;D	0.76494	0.947;0.875;0.882;0.999;0.777;0.998	P;B;P;D;B;D	0.80764	0.588;0.428;0.509;0.994;0.362;0.945	D	0.85531	0.1209	10	0.12103	T	0.63	-27.8281	18.0005	0.89196	0.0:0.0:1.0:0.0	.	868;880;917;917;917;917	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	Q	917;917;917;880;868;917	ENSP00000219476:R917Q;ENSP00000384468:R917Q;ENSP00000248099:R917Q;ENSP00000399232:R880Q;ENSP00000371978:R868Q;ENSP00000344383:R917Q	ENSP00000219476:R917Q	R	+	2	0	TSC2	2066500	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.147000	0.94646	2.319000	0.78375	0.561000	0.74099	CGG	TSC2	-	NULL	ENSG00000103197		0.642	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	-	0.00	40	0	G	NM_000548		2126499	+1	tier1	-	no_errors	ENST00000219476	ensembl	human	known	74_37	missense	67.86	9	19	SNP	1.000	A
TSEN54	283989	genome.wustl.edu	37	17	73518162	73518162	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:73518162G>A	ENST00000333213.6	+	8	1036	c.1000G>A	c.(1000-1002)Gct>Act	p.A334T		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	334					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAGACAGACGCTGAGTCCTG	0.657																																																	0													19.0	16.0	17.0					17																	73518162		2188	4284	6472	SO:0001583	missense	0			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.1000G>A	17.37:g.73518162G>A	ENSP00000327487:p.Ala334Thr		Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	NULL	p.A334T	ENST00000333213.6	37	c.1000	CCDS11724.1	17	.	.	.	.	.	.	.	.	.	.	G	7.869	0.727639	0.15439	.	.	ENSG00000182173	ENST00000333213	T	0.58506	0.33	5.33	3.34	0.38264	.	0.256239	0.39834	N	0.001256	T	0.39835	0.1093	L	0.33485	1.01	0.09310	N	1	B	0.26547	0.152	B	0.17098	0.017	T	0.17961	-1.0352	10	0.28530	T	0.3	-2.4802	6.7627	0.23550	0.1449:0.0:0.7113:0.1438	.	334	Q7Z6J9	SEN54_HUMAN	T	334	ENSP00000327487:A334T	ENSP00000327487:A334T	A	+	1	0	TSEN54	71029757	0.441000	0.25626	0.056000	0.19401	0.330000	0.28571	1.633000	0.37113	0.625000	0.30304	0.561000	0.74099	GCT	TSEN54	-	NULL	ENSG00000182173		0.657	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSEN54	HGNC	protein_coding	OTTHUMT00000447618.1	-	0.00	22	0	G	NM_207346		73518162	+1	tier1	-	no_errors	ENST00000333213	ensembl	human	known	74_37	missense	42.42	19	14	SNP	0.049	A
TSHZ3	57616	genome.wustl.edu	37	19	31769235	31769235	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:31769235delT	ENST00000240587.4	-	2	1791	c.1464delA	c.(1462-1464)aaafs	p.K488fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	488					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CAGGCTTGTCTTTTTGCTTAG	0.473																																																	0													186.0	189.0	188.0					19																	31769235		2203	4300	6503	SO:0001589	frameshift_variant	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1464delA	19.37:g.31769235delT	ENSP00000240587:p.Lys488fs		Q9H0G6|Q9P254	Frame_Shift_Del	DEL	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.D489fs	ENST00000240587.4	37	c.1464	CCDS12421.2	19																																																																																			TSHZ3	-	NULL	ENSG00000121297		0.473	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2		0.00	66	0	T	NM_020856		31769235	-1	tier1		no_errors	ENST00000240587	ensembl	human	known	74_37	frame_shift_del	19.51	33	8	DEL	0.971	-
TSPAN10	83882	genome.wustl.edu	37	17	79612316	79612317	+	RNA	INS	-	-	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:79612316_79612317insG	ENST00000572675.1	+	0	335_336				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)	p.L116fs*19(1)		ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGAAGTGATCTGGGGGGGCCCC	0.683																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																										0			BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"""Tetraspanins"""	29942	protein-coding gene	gene with protein product	"""oculospanin"""					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612323_79612323dupG			Q8N548	Frame_Shift_Ins	INS	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.P115fs	ENST00000572675.1	37	c.335_336		17																																																																																			TSPAN10	-	pfam_Tetraspanin/Peripherin	ENSG00000182612		0.683	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	TSPAN10	HGNC	polymorphic_pseudogene	OTTHUMT00000440313.1		0.00	81	0	-	NM_031945		79612317	+1	tier1		no_errors	ENST00000328585	ensembl	human	known	74_37	frame_shift_ins	39.29	34	22	INS	0.000:0.002	G
TSPAN10	83882	genome.wustl.edu	37	17	79612420	79612420	+	RNA	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:79612420A>G	ENST00000572675.1	+	0	439				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CTGTGAGAACACCTGCCTGTT	0.701																																																	0													32.0	41.0	38.0					17																	79612420		2060	4192	6252			0			BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"""Tetraspanins"""	29942	protein-coding gene	gene with protein product	"""oculospanin"""					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612420A>G			Q8N548	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.T147A	ENST00000572675.1	37	c.439		17	.	.	.	.	.	.	.	.	.	.	A	5.523	0.281397	0.10458	.	.	ENSG00000182612	ENST00000328585;ENST00000540189	T	0.79141	-1.24	4.15	-5.36	0.02689	Tetraspanin, conserved site (1);	1.249750	0.05398	N	0.540211	T	0.62233	0.2411	L	0.33293	1	0.09310	N	1	B;B	0.18461	0.028;0.002	B;B	0.20767	0.031;0.005	T	0.45585	-0.9251	10	0.16896	T	0.51	-5.9055	6.965	0.24617	0.5729:0.2009:0.2261:0.0	.	147;147	Q9H1Z9;Q6PJ65	TSN10_HUMAN;.	A	147	ENSP00000331620:T147A	ENSP00000331620:T147A	T	+	1	0	TSPAN10	77222825	0.000000	0.05858	0.000000	0.03702	0.386000	0.30323	-0.817000	0.04472	-1.416000	0.02019	0.379000	0.24179	ACC	TSPAN10	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000182612		0.701	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	TSPAN10	HGNC	polymorphic_pseudogene	OTTHUMT00000440313.1	-	0.00	173	0	A	NM_031945		79612420	+1	tier1	-	no_errors	ENST00000328585	ensembl	human	known	74_37	missense	51.64	59	63	SNP	0.001	G
TSPAN14	81619	genome.wustl.edu	37	10	82279271	82279271	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:82279271delT	ENST00000429989.3	+	0	2575				TSPAN14_ENST00000265450.5_3'UTR|TSPAN14_ENST00000372164.3_3'UTR	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14						establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			TTGATGATGATTTTTTTTTTT	0.398																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF311903	CCDS7369.1, CCDS44448.1	10q23.1	2013-02-14	2005-03-21	2005-03-21	ENSG00000108219	ENSG00000108219		"""Tetraspanins"""	23303	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 14"""	TM4SF14		11230166	Standard	NM_030927		Approved	DC-TM4F2, MGC11352	uc001kcj.4	Q8NG11	OTTHUMG00000018615	ENST00000429989.3:c.*1539T>-	10.37:g.82279271delT			A6NHE1|B4DHY6|D3DWD7|D3DWD8|Q567U7|Q9BU34|Q9H0U1	RNA	DEL	-	NULL	ENST00000429989.3	37	NULL	CCDS7369.1	10																																																																																			TSPAN14	-	-	ENSG00000108219		0.398	TSPAN14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN14	HGNC	protein_coding	OTTHUMT00000049081.2		0.00	101	0	T	NM_030927		82279271	+1	tier1		no_errors	ENST00000265450	ensembl	human	known	74_37	rna	25.41	91	31	DEL	0.000	-
TSPEAR	54084	genome.wustl.edu	37	21	46131375	46131375	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:46131375C>T	ENST00000323084.4	-	1	120	c.55G>A	c.(55-57)Ggc>Agc	p.G19S		NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	19					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCCTGCGTGCCGTGGCCGGGG	0.672																																																	0													20.0	20.0	20.0					21																	46131375		2200	4297	6497	SO:0001583	missense	0			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.55G>A	21.37:g.46131375C>T	ENSP00000321987:p.Gly19Ser			Missense_Mutation	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.G19S	ENST00000323084.4	37	c.55	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.214183	0.00289	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000341581	T	0.42131	0.98	3.76	-0.573	0.11742	.	1.091010	0.07191	N	0.855745	T	0.16896	0.0406	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.26292	-1.0107	10	0.10377	T	0.69	.	6.3162	0.21192	0.0:0.4322:0.0:0.5678	.	19	Q8WU66	TSEAR_HUMAN	S	19	ENSP00000321987:G19S	ENSP00000321987:G19S	G	-	1	0	TSPEAR	44955803	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.261000	0.08694	-0.019000	0.14055	-0.252000	0.11476	GGC	TSPEAR	-	NULL	ENSG00000175894		0.672	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	-	0.00	66	0	C	NM_144991		46131375	-1	tier1	-	no_errors	ENST00000323084	ensembl	human	known	74_37	missense	35.29	33	18	SNP	0.000	T
TSPYL1	7259	genome.wustl.edu	37	6	116600626	116600626	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:116600626T>C	ENST00000368608.3	-	1	440	c.368A>G	c.(367-369)aAg>aGg	p.K123R	RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000452085.3_5'Flank|DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	123					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CTGAACGCCCTTTTTCAGGCT	0.662																																																	0													39.0	44.0	42.0					6																	116600626		2203	4297	6500	SO:0001583	missense	0			AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"""TSPY-like"""	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.368A>G	6.37:g.116600626T>C	ENSP00000357597:p.Lys123Arg		O75885|Q5TFE6	Missense_Mutation	SNP	pfam_NAP_family	p.K123R	ENST00000368608.3	37	c.368	CCDS34518.1	6	.	.	.	.	.	.	.	.	.	.	T	9.155	1.017356	0.19355	.	.	ENSG00000189241	ENST00000368608;ENST00000545830	T	0.25912	1.77	3.7	-2.59	0.06209	.	.	.	.	.	T	0.03739	0.0106	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44605	-0.9317	9	0.15499	T	0.54	0.0969	5.426	0.16425	0.0:0.1557:0.5443:0.3	.	123	Q9H0U9	TSYL1_HUMAN	R	123	ENSP00000357597:K123R	ENSP00000357597:K123R	K	-	2	0	TSPYL1	116707319	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.070000	0.11523	-0.445000	0.07159	0.459000	0.35465	AAG	TSPYL1	-	NULL	ENSG00000189241		0.662	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL1	HGNC	protein_coding	OTTHUMT00000041929.1	-	0.00	87	0	T			116600626	-1	tier1	-	no_errors	ENST00000368608	ensembl	human	known	74_37	missense	48.19	43	40	SNP	0.000	C
TSPYL5	85453	genome.wustl.edu	37	8	98289596	98289596	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:98289596delC	ENST00000322128.3	-	1	580	c.477delG	c.(475-477)gggfs	p.G159fs		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	159					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TGACCTGAGGCCCCCTCCCCG	0.642																																																	0													55.0	66.0	62.0					8																	98289596		2202	4298	6500	SO:0001589	frameshift_variant	0			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.477delG	8.37:g.98289596delC	ENSP00000322802:p.Gly159fs		B3KRF0|Q9C0B3	Frame_Shift_Del	DEL	pfam_NAP_family	p.P160fs	ENST00000322128.3	37	c.477	CCDS34927.1	8																																																																																			TSPYL5	-	NULL	ENSG00000180543		0.642	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	HGNC	protein_coding	OTTHUMT00000380611.1		0.00	42	0	C	NM_033512		98289596	-1	tier1		no_errors	ENST00000322128	ensembl	human	known	74_37	frame_shift_del	29.41	36	15	DEL	0.000	-
TSPYL6	388951	genome.wustl.edu	37	2	54482768	54482768	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:54482768G>A	ENST00000317802.7	-	1	641	c.521C>T	c.(520-522)gCg>gTg	p.A174V	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	174					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GTTTTCTTCCGCCACGTCCAT	0.617																																																	0													60.0	66.0	64.0					2																	54482768		2059	4196	6255	SO:0001583	missense	0			AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.521C>T	2.37:g.54482768G>A	ENSP00000417919:p.Ala174Val		Q6NUJ3	Missense_Mutation	SNP	pfam_NAP_family	p.A174V	ENST00000317802.7	37	c.521	CCDS42682.1	2	.	.	.	.	.	.	.	.	.	.	G	3.236	-0.156420	0.06544	.	.	ENSG00000178021	ENST00000317802	T	0.18657	2.2	1.47	-2.94	0.05581	.	.	.	.	.	T	0.07863	0.0197	N	0.11927	0.2	0.09310	N	1	B	0.21905	0.062	B	0.06405	0.002	T	0.25117	-1.0141	9	0.27785	T	0.31	.	0.5876	0.00722	0.2842:0.3412:0.1857:0.189	.	174	Q8N831	TSYL6_HUMAN	V	174	ENSP00000417919:A174V	ENSP00000417919:A174V	A	-	2	0	TSPYL6	54336272	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-0.047000	0.11963	-2.026000	0.00934	0.313000	0.20887	GCG	TSPYL6	-	NULL	ENSG00000178021		0.617	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL6	HGNC	protein_coding	OTTHUMT00000324069.3		0.00	13	0	G	XM_371494		54482768	-1			no_errors	ENST00000317802	ensembl	human	known	74_37	missense	27.27	8	3	SNP	0.000	A
TSSK2	23617	genome.wustl.edu	37	22	19119732	19119732	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:19119732delC	ENST00000399635.2	+	1	1412	c.820delC	c.(820-822)cccfs	p.P275fs	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	275					multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GTGGCTGCAGCCCCCCAAGCC	0.627																																																	0													51.0	46.0	48.0					22																	19119732		2203	4300	6503	SO:0001589	frameshift_variant	0			AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.820delC	22.37:g.19119732delC	ENSP00000382544:p.Pro275fs		Q8IY55	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K276fs	ENST00000399635.2	37	c.820	CCDS13755.1	22																																																																																			TSSK2	-	NULL	ENSG00000206203		0.627	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK2	HGNC	protein_coding	OTTHUMT00000316431.1		0.00	45	0	C			19119732	+1	tier1		no_errors	ENST00000399635	ensembl	human	known	74_37	frame_shift_del	28.57	15	6	DEL	0.998	-
TTBK1	84630	genome.wustl.edu	37	6	43227441	43227441	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:43227441G>T	ENST00000259750.4	+	12	1504	c.1421G>T	c.(1420-1422)aGg>aTg	p.R474M	TTBK1_ENST00000304139.5_Missense_Mutation_p.R423M	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	474					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTACCTGAGAGGAGGTGGGTC	0.652																																																	0													17.0	16.0	16.0					6																	43227441		2194	4294	6488	SO:0001583	missense	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1421G>T	6.37:g.43227441G>T	ENSP00000259750:p.Arg474Met		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R474M	ENST00000259750.4	37	c.1421	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142999	0.57044	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.53206	0.63	5.22	4.34	0.51931	.	0.063219	0.64402	D	0.000004	T	0.40743	0.1129	L	0.36672	1.1	0.36882	D	0.889428	D	0.67145	0.996	P	0.56700	0.804	T	0.45205	-0.9277	10	0.87932	D	0	.	11.3529	0.49598	0.0876:0.0:0.9124:0.0	.	474	Q5TCY1	TTBK1_HUMAN	M	423;474;423	ENSP00000259750:R474M	ENSP00000259750:R474M	R	+	2	0	TTBK1	43335419	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	3.936000	0.56568	2.442000	0.82660	0.555000	0.69702	AGG	TTBK1	-	NULL	ENSG00000146216		0.652	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	-	0.00	81	0	G			43227441	+1	tier1	-	no_errors	ENST00000259750	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
TTC22	55001	genome.wustl.edu	37	1	55252654	55252654	+	Silent	SNP	G	G	A	rs570712934	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:55252654G>A	ENST00000371276.4	-	4	937	c.834C>T	c.(832-834)acC>acT	p.T278T	TTC22_ENST00000371274.4_Silent_p.T278T	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	278										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						CTAGAGGGTCGGTCCCTGAGT	0.642													G|||	2	0.000399361	0.0	0.0	5008	,	,		14895	0.0		0.0	False		,,,				2504	0.002																0													29.0	27.0	28.0					1																	55252654		2202	4300	6502	SO:0001819	synonymous_variant	0			AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.834C>T	1.37:g.55252654G>A			Q9NWT4	Silent	SNP	smart_TPR_repeat	p.T278	ENST00000371276.4	37	c.834	CCDS44152.1	1																																																																																			TTC22	-	NULL	ENSG00000006555		0.642	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TTC22	HGNC	protein_coding	OTTHUMT00000027438.1	-	0.00	65	0	G	NM_017904		55252654	-1	tier1	-	no_errors	ENST00000371276	ensembl	human	known	74_37	silent	52.31	31	34	SNP	0.079	A
TTC24	164118	genome.wustl.edu	37	1	156552852	156552852	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:156552852G>A	ENST00000368237.3	+	3	929	c.929G>A	c.(928-930)tGg>tAg	p.W310*	TTC24_ENST00000368236.3_Nonsense_Mutation_p.W310*|TTC24_ENST00000478081.1_Intron			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	310										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGCAGCGGTGGGAGCAGGGC	0.652																																																	0													33.0	38.0	36.0					1																	156552852		2026	4167	6193	SO:0001587	stop_gained	0				CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.929G>A	1.37:g.156552852G>A	ENSP00000357220:p.Trp310*		Q5T3H7	Nonsense_Mutation	SNP	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.W310*	ENST00000368237.3	37	c.929	CCDS53379.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.573858|4.573858	0.86542|0.86542	.|.	.|.	ENSG00000187862|ENSG00000187862	ENST00000340086;ENST00000413282|ENST00000368236;ENST00000368237	.|.	.|.	.|.	4.72|4.72	2.69|2.69	0.31865|0.31865	.|.	.|1.037750	.|0.07641	.|N	.|0.930260	T|.	0.28566|.	0.0707|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.16837|.	-1.0389|.	3|.	.|.	.|.	.|.	-3.288|-3.288	10.3591|10.3591	0.43982|0.43982	0.1907:0.0:0.8093:0.0|0.1907:0.0:0.8093:0.0	.|.	.|.	.|.	.|.	R|X	83;75|310	.|.	.|.	G|W	+|+	1|2	0|0	TTC24|TTC24	154819476|154819476	0.957000|0.957000	0.32711|0.32711	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.327000|1.327000	0.33746|0.33746	1.230000|1.230000	0.43646|0.43646	0.455000|0.455000	0.32223|0.32223	GGG|TGG	TTC24	-	pfscan_TPR-contain_dom	ENSG00000187862		0.652	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	TTC24	HGNC	protein_coding	OTTHUMT00000158547.1	-	0.00	73	0	G	XM_089384		156552852	+1	tier1	-	no_errors	ENST00000368236	ensembl	human	known	74_37	nonsense	36.36	49	28	SNP	0.988	A
TTC3	7267	genome.wustl.edu	37	21	38512963	38512963	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:38512963delA	ENST00000399017.2	+	20	4509	c.1762delA	c.(1762-1764)aaafs	p.K589fs	TTC3_ENST00000355666.1_Frame_Shift_Del_p.K589fs|TTC3_ENST00000354749.2_Frame_Shift_Del_p.K589fs|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Frame_Shift_Del_p.K279fs	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	589					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGTATATTTGAAAAAAAACAG	0.348																																					Ovarian(38;194 1649 35661)												0													79.0	79.0	79.0					21																	38512963		2203	4300	6503	SO:0001589	frameshift_variant	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1762delA	21.37:g.38512963delA	ENSP00000381981:p.Lys589fs		A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.N590fs	ENST00000399017.2	37	c.1762	CCDS13651.1	21																																																																																			TTC3	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000182670		0.348	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1		0.00	49	0	A			38512963	+1	tier1		no_errors	ENST00000354749	ensembl	human	known	74_37	frame_shift_del	30.77	54	24	DEL	1.000	-
TTC39A	22996	genome.wustl.edu	37	1	51761818	51761818	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:51761818C>T	ENST00000447632.2	-	13	1234	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T	TTC39A_ENST00000534098.1_Intron|TTC39A_ENST00000530004.1_Missense_Mutation_p.A4T|TTC39A_ENST00000262675.7_Missense_Mutation_p.A333T|TTC39A_ENST00000371750.5_Missense_Mutation_p.A361T|TTC39A_ENST00000413473.2_Missense_Mutation_p.A364T|TTC39A_ENST00000451380.1_Missense_Mutation_p.A360T|TTC39A_ENST00000371747.3_Missense_Mutation_p.A395T			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	396								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CTGAGGTAGGCGGCCTTCATG	0.597											OREG0013486	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											48.0	54.0	52.0					1																	51761818		2058	4178	6236	SO:0001583	missense	0			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1186G>A	1.37:g.51761818C>T	ENSP00000393952:p.Ala396Thr	979	B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.A396T	ENST00000447632.2	37	c.1186		1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761483	0.89932	.	.	ENSG00000085831	ENST00000530004;ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000525906;ENST00000371747	T;T;T;T;T;T;T;T	0.58210	0.84;0.35;0.35;0.35;0.35;0.35;0.84;0.84	5.23	4.29	0.51040	.	0.156285	0.56097	D	0.000023	T	0.69468	0.3114	M	0.84082	2.675	0.44168	D	0.996974	D;D;D;D;D;D	0.89917	0.981;0.991;1.0;1.0;0.985;1.0	P;P;D;D;P;D	0.71656	0.794;0.87;0.974;0.974;0.87;0.956	T	0.70230	-0.4929	10	0.42905	T	0.14	-6.5235	8.8719	0.35320	0.2618:0.666:0.0:0.0722	.	364;360;333;360;396;361	Q5SRH9-4;E7EQY9;D3DQ30;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;TT39A_HUMAN;.	T	4;396;364;333;360;361;4;395	ENSP00000431228:A4T;ENSP00000393952:A396T;ENSP00000406144:A364T;ENSP00000262675:A333T;ENSP00000397207:A360T;ENSP00000360815:A361T;ENSP00000436659:A4T;ENSP00000360812:A395T	ENSP00000262675:A333T	A	-	1	0	TTC39A	51534406	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.720000	0.54933	2.436000	0.82500	0.563000	0.77884	GCC	TTC39A	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000085831		0.597	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2	-	0.00	113	0	C			51761818	-1	tier1	-	no_errors	ENST00000447632	ensembl	human	known	74_37	missense	39.62	64	42	SNP	0.986	T
CFAP46	54777	genome.wustl.edu	37	10	134628225	134628225	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:134628225delG	ENST00000368586.5	-	52	7314	c.7214delC	c.(7213-7215)cctfs	p.P2405fs	TTC40_ENST00000263170.5_Frame_Shift_Del_p.P566fs	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GATGCAGTCAGGGGGGATGGT	0.657																																																	0													31.0	32.0	32.0					10																	134628225		2202	4300	6502	SO:0001589	frameshift_variant	0																														ENST00000368586.5:c.7214delC	10.37:g.134628225delG	ENSP00000357575:p.Pro2405fs			Frame_Shift_Del	DEL	NULL	p.P566fs	ENST00000368586.5	37	c.1697	CCDS58101.1	10																																																																																			TTC40	-	NULL	ENSG00000171811		0.657	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3		0.00	75	0	G			134628225	-1	tier1		no_errors	ENST00000263170	ensembl	human	known	74_37	frame_shift_del	37.04	34	20	DEL	0.001	-
CFAP46	54777	genome.wustl.edu	37	10	134648892	134648892	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:134648892G>T	ENST00000368586.5	-	47	6760	c.6660C>A	c.(6658-6660)tcC>tcA	p.S2220S	TTC40_ENST00000263170.5_Silent_p.S381S	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCAGCAGGTGGGAGAAGGCAG	0.637																																																	0													112.0	86.0	94.0					10																	134648892		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000368586.5:c.6660C>A	10.37:g.134648892G>T				Silent	SNP	NULL	p.S381	ENST00000368586.5	37	c.1143	CCDS58101.1	10																																																																																			TTC40	-	NULL	ENSG00000171811		0.637	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	-	0.00	33	0	G			134648892	-1	tier1	-	no_errors	ENST00000263170	ensembl	human	known	74_37	silent	15.38	22	4	SNP	0.000	T
CFAP46	54777	genome.wustl.edu	37	10	134664663	134664663	+	Silent	SNP	C	C	T	rs140935676		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:134664663C>T	ENST00000368586.5	-	40	5821	c.5721G>A	c.(5719-5721)gcG>gcA	p.A1907A	TTC40_ENST00000263170.5_Silent_p.A68A	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCAGATAGTCCGCCAGCAGCT	0.617																																																	0								T		0,4406		0,0,2203	80.0	78.0	79.0		657	-9.6	0.0	10	dbSNP_134	79	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	C10orf92	NM_001200049.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		219/1028	134664663	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000368586.5:c.5721G>A	10.37:g.134664663C>T				Silent	SNP	NULL	p.A68	ENST00000368586.5	37	c.204	CCDS58101.1	10																																																																																			TTC40	-	NULL	ENSG00000171811		0.617	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	-	0.00	50	0	C			134664663	-1	tier1	rs140935676	no_errors	ENST00000263170	ensembl	human	known	74_37	silent	47.37	20	18	SNP	0.000	T
TTC7B	145567	genome.wustl.edu	37	14	91007520	91007520	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:91007520delA	ENST00000328459.6	-	0	2845				TTC7B_ENST00000357056.2_3'UTR|TTC7B_ENST00000554654.1_5'UTR	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B											NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TTGGGCTGGCAAAAAAAACAA	0.438																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.*192T>-	14.37:g.91007520delA			Q86U24|Q86VT3	RNA	DEL	-	NULL	ENST00000328459.6	37	NULL	CCDS32140.1	14																																																																																			TTC7B	-	-	ENSG00000165914		0.438	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7B	HGNC	protein_coding	OTTHUMT00000411364.2		0.00	29	0	A			91007520	-1	tier1		no_errors	ENST00000554654	ensembl	human	known	74_37	rna	26.67	11	4	DEL	0.000	-
TTI1	9675	genome.wustl.edu	37	20	36627649	36627649	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:36627649G>C	ENST00000373448.2	-	6	2972	c.2734C>G	c.(2734-2736)Ccc>Gcc	p.P912A	TTI1_ENST00000373447.3_Missense_Mutation_p.P912A|TTI1_ENST00000449821.1_Missense_Mutation_p.P912A	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	912					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ACGAGCGAGGGCCAGGCCTGA	0.562																																																	0													113.0	97.0	102.0					20																	36627649		2203	4300	6503	SO:0001583	missense	0			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2734C>G	20.37:g.36627649G>C	ENSP00000362547:p.Pro912Ala		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.P912A	ENST00000373448.2	37	c.2734	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291305	0.59976	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.69926	-0.44;-0.44;-0.44	4.59	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.052898	0.85682	D	0.000000	T	0.71273	0.3320	M	0.71581	2.175	0.80722	D	1	P	0.46952	0.887	P	0.46758	0.526	T	0.73714	-0.3896	10	0.40728	T	0.16	-15.6684	16.5633	0.84572	0.0:0.0:1.0:0.0	.	912	O43156	TTI1_HUMAN	A	912	ENSP00000362547:P912A;ENSP00000362546:P912A;ENSP00000407270:P912A	ENSP00000362546:P912A	P	-	1	0	TTI1	36061063	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	8.972000	0.93424	2.379000	0.81126	0.563000	0.77884	CCC	TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250	ENSG00000101407		0.562	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	-	0.00	49	0	G	NM_014657		36627649	-1	tier1	-	no_errors	ENST00000373447	ensembl	human	known	74_37	missense	43.75	18	14	SNP	1.000	C
TTK	7272	genome.wustl.edu	37	6	80721484	80721484	+	Missense_Mutation	SNP	G	G	A	rs368343290		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:80721484G>A	ENST00000369798.2	+	7	878	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	TTK_ENST00000509894.1_Missense_Mutation_p.R256Q|TTK_ENST00000230510.3_Missense_Mutation_p.R256Q	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	256					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATAGGTTACCGGAATTCATTG	0.318																																																	0													62.0	56.0	58.0					6																	80721484		2202	4300	6502	SO:0001583	missense	0				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.767G>A	6.37:g.80721484G>A	ENSP00000358813:p.Arg256Gln		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R256Q	ENST00000369798.2	37	c.767	CCDS4993.1	6	.	.	.	.	.	.	.	.	.	.	G	9.644	1.139768	0.21205	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	D;D;D	0.88741	-2.42;-2.42;-2.42	5.23	-1.1	0.09872	.	0.989049	0.08249	N	0.974953	T	0.62208	0.2409	N	0.25890	0.77	0.09310	N	1	B;B	0.21071	0.051;0.051	B;B	0.09377	0.003;0.004	T	0.49790	-0.8902	10	0.33940	T	0.23	.	4.3976	0.11370	0.4275:0.0:0.4222:0.1503	.	256;256	P33981;A8K8U5	TTK_HUMAN;.	Q	256	ENSP00000422936:R256Q;ENSP00000230510:R256Q;ENSP00000358813:R256Q	ENSP00000230510:R256Q	R	+	2	0	TTK	80778203	0.000000	0.05858	0.034000	0.17996	0.361000	0.29550	-0.784000	0.04633	-0.212000	0.10109	0.563000	0.77884	CGG	TTK	-	NULL	ENSG00000112742		0.318	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	HGNC	protein_coding	OTTHUMT00000041316.2	-	0.00	47	0	G			80721484	+1	tier1	-	no_errors	ENST00000369798	ensembl	human	known	74_37	missense	32.08	34	17	SNP	0.116	A
TTK	7272	genome.wustl.edu	37	6	80751897	80751897	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:80751897delA	ENST00000369798.2	+	22	2663	c.2552delA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000509894.1_Frame_Shift_Del_p.E850fs|TTK_ENST00000230510.3_Frame_Shift_Del_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AAGACTTTTGAAAAAAAAAGG	0.299																																																	6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)											48.0	52.0	51.0					6																	80751897		2202	4283	6485	SO:0001589	frameshift_variant	0				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2552delA	6.37:g.80751897delA	ENSP00000358813:p.Glu851fs		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R854fs	ENST00000369798.2	37	c.2552	CCDS4993.1	6																																																																																			TTK	-	NULL	ENSG00000112742		0.299	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	HGNC	protein_coding	OTTHUMT00000041316.2		0.00	47	0	A			80751897	+1	tier1		no_errors	ENST00000369798	ensembl	human	known	74_37	frame_shift_del	34.43	40	21	DEL	0.102	-
TTK	7272	genome.wustl.edu	37	6	80751905	80751905	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:80751905A>G	ENST00000369798.2	+	22	2671	c.2560A>G	c.(2560-2562)Agg>Ggg	p.R854G	TTK_ENST00000509894.1_Missense_Mutation_p.R853G|TTK_ENST00000230510.3_Missense_Mutation_p.R853G	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	854					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R854G(2)|p.R838G(2)|p.R838fs*4(2)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGAAAAAAAAAGGGGAAAAAA	0.308																																																	6	Substitution - Missense(4)|Deletion - Frameshift(2)	endometrium(4)|ovary(1)|large_intestine(1)											48.0	52.0	50.0					6																	80751905		2203	4286	6489	SO:0001583	missense	0				CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2560A>G	6.37:g.80751905A>G	ENSP00000358813:p.Arg854Gly		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R854G	ENST00000369798.2	37	c.2560	CCDS4993.1	6	.	.	.	.	.	.	.	.	.	.	A	3.660	-0.069649	0.07228	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.66995	-0.24;-0.24;-0.24	5.73	0.178	0.15058	.	0.346876	0.32134	N	0.006539	T	0.26666	0.0652	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21075	-1.0256	10	0.51188	T	0.08	.	2.0883	0.03650	0.2624:0.0688:0.2503:0.4185	.	854;853	P33981;A8K8U5	TTK_HUMAN;.	G	853;853;854	ENSP00000422936:R853G;ENSP00000230510:R853G;ENSP00000358813:R854G	ENSP00000230510:R853G	R	+	1	2	TTK	80808624	0.454000	0.25728	0.001000	0.08648	0.002000	0.02628	-0.293000	0.08320	-0.166000	0.10890	-0.302000	0.09304	AGG	TTK	-	NULL	ENSG00000112742		0.308	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTK	HGNC	protein_coding	OTTHUMT00000041316.2		0.00	46	0	A			80751905	+1			no_errors	ENST00000369798	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.014	G
TTLL13	440307	genome.wustl.edu	37	15	90802159	90802159	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:90802159G>T	ENST00000339615.5	+	10	1642	c.1352G>T	c.(1351-1353)aGg>aTg	p.R451M	RP11-697E2.6_ENST00000561573.1_3'UTR|TTLL13_ENST00000438251.1_Splice_Site_p.R451M	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CGAGAATCTAGGTGTGCTAGG	0.493																																																	0													129.0	114.0	119.0					15																	90802159		2199	4298	6497	SO:0001583	missense	0			BC036668		15q26.1	2013-02-14				ENSG00000213471		"""Tubulin tyrosine ligase-like family"""	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.1352G>T	15.37:g.90802159G>T	ENSP00000345294:p.Arg451Met			Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.R451M	ENST00000339615.5	37	c.1352	CCDS32328.1	15	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061098	0.55432	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.04234	3.67;3.76	5.7	5.7	0.88788	.	0.237918	0.35772	N	0.002984	T	0.26122	0.0637	M	0.82823	2.61	0.49915	D	0.999837	D	0.89917	1.0	D	0.78314	0.991	T	0.00527	-1.1688	10	0.87932	D	0	.	18.8339	0.92153	0.0:0.0:1.0:0.0	.	451	A6NNM8-2	.	M	451	ENSP00000413362:R451M;ENSP00000345294:R451M	ENSP00000345294:R451M	R	+	2	0	TTLL13	88603163	1.000000	0.71417	0.979000	0.43373	0.082000	0.17680	6.138000	0.71717	2.707000	0.92482	0.655000	0.94253	AGG	TTLL13	-	NULL	ENSG00000213471		0.493	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL13	HGNC	protein_coding	OTTHUMT00000435854.1	-	0.00	94	0	G	NM_001029964		90802159	+1	tier1	-	no_errors	ENST00000438251	ensembl	human	known	74_37	missense	49.15	30	29	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179395339	179395339	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:179395339G>T	ENST00000591111.1	-	308	101304	c.101080C>A	c.(101080-101082)Cat>Aat	p.H33694N	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H26395N|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H26270N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H35335N|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H32767N|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H26462N|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33694	Ig-like 148.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGAATAATGAAACTGGAAA	0.403																																																	0													111.0	101.0	104.0					2																	179395339		1865	4111	5976	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.101080C>A	2.37:g.179395339G>T	ENSP00000465570:p.His33694Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H32767N	ENST00000591111.1	37	c.98299		2	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538315	0.65085	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.12	5.12	0.69794	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78162	0.4240	L	0.46741	1.465	0.49582	D	0.9998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.81914	0.995;0.995;0.995;0.995	T	0.80407	-0.1395	9	0.87932	D	0	.	18.5908	0.91212	0.0:0.0:1.0:0.0	.	26270;26395;26462;33694	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	32767;26270;26462;26395;26267	ENSP00000343764:H32767N;ENSP00000434586:H26270N;ENSP00000340554:H26462N;ENSP00000352154:H26395N	ENSP00000340554:H26462N	H	-	1	0	TTN	179103585	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.368000	0.73104	2.395000	0.81488	0.561000	0.74099	CAT	TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.403	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	42	0	G	NM_133378		179395339	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179498701	179498701	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:179498701G>T	ENST00000591111.1	-	181	37826	c.37602C>A	c.(37600-37602)ttC>ttA	p.F12534L	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F5235L|TTN_ENST00000460472.2_Missense_Mutation_p.F5110L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F14175L|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F11607L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F5302L			Q8WZ42	TITIN_HUMAN	titin	12534	Ig-like 83.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCATTTTTGAACCAGACTA	0.358																																																	0													289.0	269.0	275.0					2																	179498701		1880	4109	5989	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37602C>A	2.37:g.179498701G>T	ENSP00000465570:p.Phe12534Leu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.F11607L	ENST00000591111.1	37	c.34821		2	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921791	0.33908	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.95	2.7	0.31948	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21718	0.0523	N	0.08118	0	0.36983	D	0.894381	B;B;B;B	0.28128	0.201;0.201;0.201;0.201	B;B;B;B	0.24701	0.055;0.055;0.055;0.055	T	0.20706	-1.0267	9	0.87932	D	0	.	8.0481	0.30562	0.1638:0.0:0.7037:0.1324	.	5110;5235;5302;12534	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	11607;5110;5302;5235;5110	ENSP00000343764:F11607L;ENSP00000434586:F5110L;ENSP00000340554:F5302L;ENSP00000352154:F5235L	ENSP00000340554:F5302L	F	-	3	2	TTN	179206946	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.525000	0.67110	1.432000	0.47375	0.655000	0.94253	TTC	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.358	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	44	0	G	NM_133378		179498701	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	8.77	52	5	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179584325	179584325	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:179584325delT	ENST00000591111.1	-	80	23167	c.22943delA	c.(22942-22944)aacfs	p.N7648fs	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Frame_Shift_Del_p.N7965fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.N6721fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13198	Ig-like 58.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCAACACTGTTTTTCACTTC	0.398																																																	0													192.0	185.0	187.0					2																	179584325		1874	4100	5974	SO:0001589	frameshift_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22943delA	2.37:g.179584325delT	ENSP00000465570:p.Asn7648fs		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.N6721fs	ENST00000591111.1	37	c.20162		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	35	0	T	NM_133378		179584325	-1	tier1		no_errors	ENST00000342992	ensembl	human	known	74_37	frame_shift_del	33.33	20	10	DEL	1.000	-
TTN	7273	genome.wustl.edu	37	2	179631242	179631242	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:179631242A>T	ENST00000591111.1	-	41	9793	c.9569T>A	c.(9568-9570)gTt>gAt	p.V3190D	TTN_ENST00000359218.5_Missense_Mutation_p.V3144D|TTN_ENST00000460472.2_Missense_Mutation_p.V3144D|TTN_ENST00000589042.1_Missense_Mutation_p.V3190D|TTN_ENST00000342992.6_Missense_Mutation_p.V3190D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V3144D|TTN_ENST00000360870.5_Missense_Mutation_p.V3190D			Q8WZ42	TITIN_HUMAN	titin	13520					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCGTTCTTGAACTTGGAAATT	0.423																																																	0													156.0	142.0	146.0					2																	179631242		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9569T>A	2.37:g.179631242A>T	ENSP00000465570:p.Val3190Asp		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.V3190D	ENST00000591111.1	37	c.9569		2	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094106	0.36952	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.04809	3.55;3.55;3.55;3.55;3.55	5.7	5.7	0.88788	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05777	0.0151	L	0.29908	0.895	0.35847	D	0.826505	B;B;B;B;P	0.40875	0.317;0.317;0.317;0.317;0.731	B;B;B;B;P	0.44359	0.17;0.17;0.283;0.283;0.447	T	0.30327	-0.9982	9	0.87932	D	0	.	6.6696	0.23060	0.7788:0.0:0.075:0.1462	.	3144;3144;3144;3190;3190	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	3190;3144;3144;3144;3144;3190	ENSP00000343764:V3190D;ENSP00000434586:V3144D;ENSP00000340554:V3144D;ENSP00000352154:V3144D;ENSP00000354117:V3190D	ENSP00000340554:V3144D	V	-	2	0	TTN	179339487	0.990000	0.36364	1.000000	0.80357	0.958000	0.62258	3.254000	0.51477	2.175000	0.68902	0.482000	0.46254	GTT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	88	0	A	NM_133378		179631242	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	36.54	33	19	SNP	0.990	T
TTN	7273	genome.wustl.edu	37	2	179643760	179643760	+	Missense_Mutation	SNP	C	C	T	rs539470256		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:179643760C>T	ENST00000591111.1	-	24	4273	c.4049G>A	c.(4048-4050)cGt>cAt	p.R1350H	TTN_ENST00000359218.5_Missense_Mutation_p.R1304H|TTN_ENST00000460472.2_Missense_Mutation_p.R1304H|TTN_ENST00000589042.1_Missense_Mutation_p.R1350H|TTN_ENST00000342992.6_Missense_Mutation_p.R1350H|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R1304H|TTN_ENST00000360870.5_Missense_Mutation_p.R1350H			Q8WZ42	TITIN_HUMAN	titin	33546	Ig-like 5.		R -> H (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R1304H(4)|p.R1350H(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAGGTATACGCAGACTAGC	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		20801	0.001		0.0	False		,,,				2504	0.0																7	Substitution - Missense(7)	kidney(6)|stomach(1)											141.0	123.0	129.0					2																	179643760		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4049G>A	2.37:g.179643760C>T	ENSP00000465570:p.Arg1350His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R1350H	ENST00000591111.1	37	c.4049		2	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483763	0.63962	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71091	0.3299	N	0.12569	0.235	0.46981	D	0.999277	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.76852	-0.2806	9	0.87932	D	0	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	1304;1304;1304;1350;1350	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1350;1304;1304;1304;1304;1350	ENSP00000343764:R1350H;ENSP00000434586:R1304H;ENSP00000340554:R1304H;ENSP00000352154:R1304H;ENSP00000354117:R1350H	ENSP00000340554:R1304H	R	-	2	0	TTN	179352005	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.936000	0.63506	2.711000	0.92665	0.655000	0.94253	CGT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	23	0	C	NM_133378		179643760	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	33.33	12	6	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179613430	179613430	+	Intron	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:179613430G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.A4566D			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATGTTCAGCTCTTTTAGA	0.338																																																	0													109.0	114.0	112.0					2																	179613430		2203	4296	6499	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+4420C>A	2.37:g.179613430G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A4566D	ENST00000591111.1	37	c.13697		2	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582662	0.28180	.	.	ENSG00000155657	ENST00000360870	T	0.59906	0.23	5.56	0.598	0.17512	.	.	.	.	.	T	0.46073	0.1374	N	0.24115	0.695	0.09310	N	0.999999	B	0.30973	0.302	B	0.36186	0.219	T	0.42447	-0.9451	9	0.56958	D	0.05	.	11.9548	0.52974	0.4228:0.0:0.5772:0.0	.	4566	Q8WZ42-6	.	D	4566	ENSP00000354117:A4566D	ENSP00000354117:A4566D	A	-	2	0	TTN	179321675	0.000000	0.05858	0.001000	0.08648	0.203000	0.24098	0.125000	0.15749	-0.159000	0.11021	-1.119000	0.02030	GCT	TTN	-	NULL	ENSG00000155657		0.338	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	33	0	G	NM_133378		179613430	-1			no_errors	ENST00000360870	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.000	T
TTN	7273	genome.wustl.edu	37	2	179643779	179643779	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:179643779C>A	ENST00000591111.1	-	24	4254	c.4030G>T	c.(4030-4032)Gat>Tat	p.D1344Y	TTN_ENST00000359218.5_Missense_Mutation_p.D1298Y|TTN_ENST00000460472.2_Missense_Mutation_p.D1298Y|TTN_ENST00000589042.1_Missense_Mutation_p.D1344Y|TTN_ENST00000342992.6_Missense_Mutation_p.D1344Y|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D1298Y|TTN_ENST00000360870.5_Missense_Mutation_p.D1344Y			Q8WZ42	TITIN_HUMAN	titin	33540	Ig-like 5.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTCTGCCATCTTGTAGAAAG	0.393																																																	0													133.0	117.0	123.0					2																	179643779		2203	4300	6503	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4030G>T	2.37:g.179643779C>A	ENSP00000465570:p.Asp1344Tyr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D1344Y	ENST00000591111.1	37	c.4030		2	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962428	0.53400	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64170	0.2574	L	0.57536	1.79	0.45025	D	0.998042	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.64715	-0.6342	9	0.87932	D	0	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	1298;1298;1298;1344;1344	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Y	1344;1298;1298;1298;1298;1344	ENSP00000343764:D1344Y;ENSP00000434586:D1298Y;ENSP00000340554:D1298Y;ENSP00000352154:D1298Y;ENSP00000354117:D1344Y	ENSP00000340554:D1298Y	D	-	1	0	TTN	179352024	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.781000	0.85668	2.711000	0.92665	0.655000	0.94253	GAT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	19	0	C	NM_133378		179643779	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	36.84	12	7	SNP	1.000	A
TUBA4A	7277	genome.wustl.edu	37	2	220118077	220118078	+	Intron	DEL	GG	GG	-	rs60456844|rs562496165|rs543921349	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:220118077_220118078delGG	ENST00000248437.4	-	1	177				TUBA4A_ENST00000392088.2_Intron|TUBA4A_ENST00000498660.1_Intron|TUBA4B_ENST00000490341.1_RNA	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a						'de novo' posttranslational protein folding (GO:0051084)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	GCTGAGTCACGGGGGGGGGGTG	0.649																																																	0																																										SO:0001627	intron_variant	0			AK054731	CCDS2438.1, CCDS63131.1	2q36.1	2012-10-02	2007-02-12	2007-02-12	ENSG00000127824	ENSG00000127824		"""Tubulins"""	12407	protein-coding gene	gene with protein product		191110	"""tubulin, alpha 1 (testis specific)"", ""tubulin, alpha 1"""	TUBA1		3785200	Standard	NM_006000		Approved	FLJ30169, H2-ALPHA	uc002vkt.1	P68366	OTTHUMG00000133126	ENST00000248437.4:c.3+499CC>-	2.37:g.220118085_220118086delGG			A8MUB1|B3KNQ6|P05215	RNA	DEL	-	NULL	ENST00000248437.4	37	NULL	CCDS2438.1	2																																																																																			TUBA4B	-	-	ENSG00000243910		0.649	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA4B	HGNC	protein_coding	OTTHUMT00000256816.3		0.00	8	0	GG	NM_006000		220118078	+1	tier1		no_errors	ENST00000473885	ensembl	human	known	74_37	rna	50.00	4	4	DEL	0.000:0.000	-
TUBG2	27175	genome.wustl.edu	37	17	40818799	40818799	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:40818799G>T	ENST00000251412.7	+	11	1536	c.1337G>T	c.(1336-1338)tGg>tTg	p.W446L	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	446					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TACATTTCCTGGGGCACCCAG	0.542																																																	0													96.0	75.0	82.0					17																	40818799		2203	4300	6503	SO:0001583	missense	0			AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.1337G>T	17.37:g.40818799G>T	ENSP00000251412:p.Trp446Leu		A6NDI4|Q32NB2	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.W446L	ENST00000251412.7	37	c.1337	CCDS32658.1	17	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548817	0.65311	.	.	ENSG00000037042	ENST00000251412	T	0.76316	-1.01	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.75635	0.3876	M	0.70275	2.135	0.80722	D	1	P	0.34892	0.474	B	0.23716	0.048	T	0.79396	-0.1821	10	0.66056	D	0.02	-20.4681	18.232	0.89937	0.0:0.0:1.0:0.0	.	446	Q9NRH3	TBG2_HUMAN	L	446	ENSP00000251412:W446L	ENSP00000251412:W446L	W	+	2	0	TUBG2	38072325	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.483000	0.97937	2.537000	0.85549	0.561000	0.74099	TGG	TUBG2	-	NULL	ENSG00000037042		0.542	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG2	HGNC	protein_coding	OTTHUMT00000452326.1	-	0.00	70	0	G	NM_016437		40818799	+1	tier1	-	no_errors	ENST00000251412	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
TUBGCP2	10844	genome.wustl.edu	37	10	135107236	135107236	+	Silent	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:135107236C>A	ENST00000252936.3	-	5	693	c.654G>T	c.(652-654)gtG>gtT	p.V218V	TUBGCP2_ENST00000543663.1_Silent_p.V246V|RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000368563.2_Silent_p.V218V|TUBGCP2_ENST00000368562.1_5'Flank|TUBGCP2_ENST00000417178.2_Silent_p.V88V			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	218					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GCAGGTCCTCCACCACGGCCG	0.701																																																	0													38.0	28.0	31.0					10																	135107236		2201	4294	6495	SO:0001819	synonymous_variant	0			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.654G>T	10.37:g.135107236C>A			B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	pfam_TUBGCP,superfamily_Ocr	p.V246	ENST00000252936.3	37	c.738	CCDS7676.1	10																																																																																			TUBGCP2	-	pfam_TUBGCP	ENSG00000130640		0.701	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	-	0.00	108	0	C			135107236	-1	tier1	-	no_errors	ENST00000543663	ensembl	human	known	74_37	silent	39.68	38	25	SNP	1.000	A
TUBGCP2	10844	genome.wustl.edu	37	10	135116332	135116332	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:135116332C>T	ENST00000252936.3	-	1	153	c.114G>A	c.(112-114)ccG>ccA	p.P38P	TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000543663.1_Silent_p.P38P|TUBGCP2_ENST00000368563.2_Silent_p.P38P|TUBGCP2_ENST00000417178.2_Intron			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	38					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TAGTGACGTACGGGGTCCTGT	0.567																																																	0													293.0	210.0	238.0					10																	135116332		2203	4300	6503	SO:0001819	synonymous_variant	0			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.114G>A	10.37:g.135116332C>T			B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	pfam_TUBGCP,superfamily_Ocr	p.P38	ENST00000252936.3	37	c.114	CCDS7676.1	10																																																																																			TUBGCP2	-	NULL	ENSG00000130640		0.567	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP2	HGNC	protein_coding	OTTHUMT00000051148.1	-	0.00	25	0	C			135116332	-1	tier1	-	no_errors	ENST00000543663	ensembl	human	known	74_37	silent	20.69	23	6	SNP	0.723	T
TVP23C	201158	genome.wustl.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000583206.1_5'Flank|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000584811.1_Splice_Site	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0			BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T			Q3LIC7	Splice_Site	SNP	-	e5-2	ENST00000225576.3	37	c.162-2	CCDS11170.1	17	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.	TVP23C	-	-	ENSG00000175106		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	TVP23C	HGNC	protein_coding	OTTHUMT00000130705.2	-	0.00	77	0	C	NM_145301		15441469	-1	tier1	-	no_errors	ENST00000523573	ensembl	human	known	74_37	splice_site	27.35	84	32	SNP	0.998	T
TVP23B	51030	genome.wustl.edu	37	17	18707518	18707518	+	Missense_Mutation	SNP	G	G	A	rs374582039		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:18707518G>A	ENST00000307767.8	+	6	829	c.530G>A	c.(529-531)cGc>cAc	p.R177H	TVP23B_ENST00000574226.1_Missense_Mutation_p.R177H|TVP23B_ENST00000581733.1_Missense_Mutation_p.R113H|TVP23B_ENST00000476139.1_Missense_Mutation_p.R113H	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	177						integral component of membrane (GO:0016021)											TGTAAGGTGCGCAGCAGAAAG	0.418																																																	0								G	HIS/ARG	0,3768		0,0,1884	79.0	73.0	75.0		530	2.7	1.0	17		75	1,8187		0,1,4093	no	missense	FAM18B1	NM_016078.4	29	0,1,5977	AA,AG,GG		0.0122,0.0,0.0084	benign	177/206	18707518	1,11955	1884	4094	5978	SO:0001583	missense	0			AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B"", ""family with sequence similarity 18, member B1"""	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.530G>A	17.37:g.18707518G>A	ENSP00000305654:p.Arg177His		A8K448|Q96HK5|Q9Y3E6	Missense_Mutation	SNP	pfam_DUF846_euk	p.R177H	ENST00000307767.8	37	c.530	CCDS42274.1	17	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047541	0.36085	0.0	1.22E-4	ENSG00000171928	ENST00000307767	T	0.30182	1.54	2.68	2.68	0.31781	.	0.052154	0.85682	D	0.000000	T	0.17662	0.0424	N	0.22421	0.69	0.23168	N	0.998181	B	0.19706	0.038	B	0.09377	0.004	T	0.16867	-1.0388	10	0.15952	T	0.53	-5.7081	11.11	0.48226	0.0:0.0:1.0:0.0	.	177	Q9NYZ1	F18B1_HUMAN	H	177	ENSP00000305654:R177H	ENSP00000305654:R177H	R	+	2	0	FAM18B1	18648243	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	8.892000	0.92491	1.504000	0.48704	0.194000	0.17425	CGC	TVP23B	-	NULL	ENSG00000171928		0.418	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TVP23B	HGNC	protein_coding	OTTHUMT00000130667.2	-	0.00	101	0	G	NM_016078		18707518	+1	tier1	-	no_errors	ENST00000307767	ensembl	human	known	74_37	missense	51.14	43	45	SNP	1.000	A
TWISTNB	221830	genome.wustl.edu	37	7	19739713	19739713	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:19739713delC	ENST00000222567.5	-	3	657	c.587delG	c.(586-588)ggafs	p.G196fs		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	196					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						ATTTAGTTTTCCCCGAATGCA	0.318																																																	0													91.0	90.0	91.0					7																	19739713		2203	4300	6503	SO:0001589	frameshift_variant	0			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.587delG	7.37:g.19739713delC	ENSP00000222567:p.Gly196fs		A0PJ45|B7Z724	Frame_Shift_Del	DEL	pfam_RNA_pol_Rpb7_N	p.G196fs	ENST00000222567.5	37	c.587	CCDS34606.1	7																																																																																			TWISTNB	-	NULL	ENSG00000105849		0.318	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TWISTNB	HGNC	protein_coding	OTTHUMT00000326463.1		0.00	46	0	C			19739713	-1	tier1		no_errors	ENST00000222567	ensembl	human	known	74_37	frame_shift_del	36.36	42	24	DEL	1.000	-
TXK	7294	genome.wustl.edu	37	4	48088568	48088568	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:48088568G>T	ENST00000264316.4	-	10	956	c.871C>A	c.(871-873)Cgg>Agg	p.R291R	TXK_ENST00000510457.1_5'Flank	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	291	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						ATATGTGACCGCCATTCACCT	0.418																																																	0													204.0	172.0	183.0					4																	48088568		2203	4300	6503	SO:0001819	synonymous_variant	0			L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.871C>A	4.37:g.48088568G>T			Q14220	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R291	ENST00000264316.4	37	c.871	CCDS3480.1	4																																																																																			TXK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000074966		0.418	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXK	HGNC	protein_coding	OTTHUMT00000219869.7	-	0.00	78	0	G	NM_003328		48088568	-1	tier1	-	no_errors	ENST00000264316	ensembl	human	known	74_37	silent	8.70	63	6	SNP	0.997	T
TXNL1	9352	genome.wustl.edu	37	18	54278226	54278226	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:54278226G>A	ENST00000217515.6	-	7	1042	c.838C>T	c.(838-840)Cga>Tga	p.R280*	TXNL1_ENST00000540155.1_Nonsense_Mutation_p.R157*|TXNL1_ENST00000590954.1_Nonsense_Mutation_p.R280*	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	280	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		AAACTTACTCGTTTGAAGTCA	0.294																																																	0													92.0	88.0	90.0					18																	54278226		2202	4298	6500	SO:0001587	stop_gained	0			AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"""thioredoxin-like, 32kD"""	603049	"""thioredoxin-like, 32kDa"""	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.838C>T	18.37:g.54278226G>A	ENSP00000217515:p.Arg280*			Nonsense_Mutation	SNP	pfam_PITH_dom,pfam_Thioredoxin_domain,superfamily_Galactose-bd-like,superfamily_Thioredoxin-like_fold	p.R280*	ENST00000217515.6	37	c.838	CCDS11961.1	18	.	.	.	.	.	.	.	.	.	.	G	48	14.010560	0.99775	.	.	ENSG00000091164	ENST00000217515;ENST00000540155	.	.	.	5.78	3.85	0.44370	.	0.358491	0.28964	N	0.013575	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2089	0.59813	0.0:0.0:0.5916:0.4084	.	.	.	.	X	280;157	.	ENSP00000217515:R280X	R	-	1	2	TXNL1	52429224	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.908000	0.48750	1.419000	0.47118	0.655000	0.94253	CGA	TXNL1	-	NULL	ENSG00000091164		0.294	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNL1	HGNC	protein_coding	OTTHUMT00000256064.2	-	0.00	32	0	G			54278226	-1	tier1	-	no_errors	ENST00000217515	ensembl	human	known	74_37	nonsense	39.39	20	13	SNP	1.000	A
TXNRD2	10587	genome.wustl.edu	37	22	19882493	19882496	+	5'UTR	DEL	AAAA	AAAA	-	rs35599379	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:19882493_19882496delAAAA	ENST00000491939.1	-	0	1166_1169				TXNRD2_ENST00000542719.1_Intron|TXNRD2_ENST00000400518.1_Intron|TXNRD2_ENST00000400519.1_Intron|TXNRD2_ENST00000400521.1_Intron|TXNRD2_ENST00000535882.1_Intron|TXNRD2_ENST00000334363.9_3'UTR			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2						cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					actccatctcaaaaaaaaaaaaaa	0.485																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000491939.1:c.-714TTTT>-	22.37:g.19882501_19882504delAAAA			O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	RNA	DEL	-	NULL	ENST00000491939.1	37	NULL		22																																																																																			TXNRD2	-	-	ENSG00000184470		0.485	TXNRD2-005	KNOWN	basic	processed_transcript	TXNRD2	HGNC	protein_coding	OTTHUMT00000314905.2		0.00	19	0	AAAA	NM_006440		19882496	-1	tier1		no_errors	ENST00000491939	ensembl	human	known	74_37	rna	27.78	13	5	DEL	0.027:0.029:0.029:0.026	-
TYK2	7297	genome.wustl.edu	37	19	10468442	10468442	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:10468442C>T	ENST00000525621.1	-	17	2945	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	TYK2_ENST00000524462.1_Missense_Mutation_p.E637K|TYK2_ENST00000264818.6_Missense_Mutation_p.E822K|TYK2_ENST00000529370.1_Missense_Mutation_p.E822K	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	822	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGACATACCTCGGAGGGACTG	0.617																																																	0													19.0	19.0	19.0					19																	10468442		2202	4296	6498	SO:0001583	missense	0				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2464G>A	19.37:g.10468442C>T	ENSP00000431885:p.Glu822Lys		Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.E822K	ENST00000525621.1	37	c.2464	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469106	0.63625	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	4.76	4.76	0.60689	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000082	D	0.89518	0.6738	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.974	D	0.87603	0.2498	10	0.28530	T	0.3	-33.425	15.3023	0.73962	0.0:1.0:0.0:0.0	.	822;822	E9PPF2;P29597	.;TYK2_HUMAN	K	637;822;822;569;822	ENSP00000433203:E637K;ENSP00000431885:E822K;ENSP00000264818:E822K;ENSP00000432728:E822K	ENSP00000264818:E822K	E	-	1	0	TYK2	10329442	1.000000	0.71417	0.944000	0.38274	0.066000	0.16364	6.920000	0.75799	2.465000	0.83290	0.655000	0.94253	GAG	TYK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom	ENSG00000105397		0.617	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	-	0.00	66	0	C			10468442	-1	tier1	-	no_errors	ENST00000264818	ensembl	human	known	74_37	missense	42.37	34	25	SNP	0.998	T
TYRO3	7301	genome.wustl.edu	37	15	41859622	41859622	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:41859622G>T	ENST00000263798.3	+	7	1072	c.848G>T	c.(847-849)tGc>tTc	p.C283F	TYRO3_ENST00000559066.1_Missense_Mutation_p.C238F	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	283	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCCTTTACCTGCCTGCTCCGG	0.602																																																	0													87.0	91.0	90.0					15																	41859622		2203	4300	6503	SO:0001583	missense	0			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.848G>T	15.37:g.41859622G>T	ENSP00000263798:p.Cys283Phe		O14953|Q86VR3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.C283F	ENST00000263798.3	37	c.848	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	G	8.905	0.957215	0.18507	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.55234	0.53	4.64	4.64	0.57946	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.46442	D	0.000299	T	0.39172	0.1068	L	0.33485	1.01	0.36524	D	0.870345	P	0.41947	0.766	B	0.38842	0.283	T	0.40021	-0.9585	10	0.11485	T	0.65	-16.1495	14.5246	0.67878	0.0:0.0:1.0:0.0	.	283	Q06418	TYRO3_HUMAN	F	215;283	ENSP00000263798:C283F	ENSP00000263798:C283F	C	+	2	0	TYRO3	39646914	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.956000	0.56722	2.417000	0.82017	0.655000	0.94253	TGC	TYRO3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000092445		0.602	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	HGNC	protein_coding	OTTHUMT00000252693.2	-	0.00	68	0	G			41859622	+1	tier1	-	no_errors	ENST00000263798	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.990	T
U2AF1	7307	genome.wustl.edu	37	21	44515596	44515596	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:44515596G>A	ENST00000291552.4	-	5	392	c.300C>T	c.(298-300)aaC>aaT	p.N100N	U2AF1_ENST00000459639.1_Silent_p.N27N|U2AF1_ENST00000398137.1_Silent_p.N27N|U2AF1_ENST00000380276.2_Silent_p.N100N|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	100	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						TGTCACAGACGTTCATCTCCT	0.537			Mis		"""CLL, MDS"""																																			Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	0													164.0	143.0	150.0					21																	44515596		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.300C>T	21.37:g.44515596G>A			Q701P4|Q71RF1	Silent	SNP	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small	p.N100	ENST00000291552.4	37	c.300	CCDS13694.1	21																																																																																			U2AF1	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000160201		0.537	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	HGNC	protein_coding	OTTHUMT00000195541.1	-	0.00	53	0	G	NM_006758		44515596	-1	tier1	-	no_errors	ENST00000291552	ensembl	human	known	74_37	silent	42.55	27	20	SNP	0.993	A
UACA	55075	genome.wustl.edu	37	15	70991908	70991908	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:70991908T>C	ENST00000322954.6	-	2	355	c.170A>G	c.(169-171)aAg>aGg	p.K57R	UACA_ENST00000539319.1_Missense_Mutation_p.K57R|UACA_ENST00000379983.2_Missense_Mutation_p.K44R|UACA_ENST00000560441.1_Missense_Mutation_p.K44R	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	57					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTGACCCCCTTTTTAGCAAG	0.403																																																	0													198.0	169.0	179.0					15																	70991908		2199	4297	6496	SO:0001583	missense	0			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.170A>G	15.37:g.70991908T>C	ENSP00000314556:p.Lys57Arg		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.K57R	ENST00000322954.6	37	c.170	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298631	0.81025	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000395362;ENST00000539319	T;T;T	0.70749	-0.24;-0.24;-0.51	5.27	5.27	0.74061	Ankyrin repeat-containing domain (4);	0.000000	0.56097	D	0.000026	T	0.75079	0.3801	N	0.25060	0.705	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.999;0.999;0.997	T	0.78468	-0.2192	10	0.62326	D	0.03	-33.4909	15.1443	0.72637	0.0:0.0:0.0:1.0	.	57;57;57;44	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	R	57;44;44;57	ENSP00000314556:K57R;ENSP00000369319:K44R;ENSP00000438667:K57R	ENSP00000314556:K57R	K	-	2	0	UACA	68778962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.533000	0.81994	2.124000	0.65301	0.397000	0.26171	AAG	UACA	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000137831		0.403	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2		0.00	105	0	T			70991908	-1			no_errors	ENST00000322954	ensembl	human	known	74_37	missense	6.59	56	6	SNP	1.000	C
UACA	55075	genome.wustl.edu	37	15	70991908	70991908	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:70991908delT	ENST00000322954.6	-	2	355	c.170delA	c.(169-171)aagfs	p.K57fs	UACA_ENST00000539319.1_Frame_Shift_Del_p.K57fs|UACA_ENST00000379983.2_Frame_Shift_Del_p.K44fs|UACA_ENST00000560441.1_Frame_Shift_Del_p.K44fs	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	57					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTGACCCCCTTTTTAGCAAG	0.403																																																	0													198.0	169.0	179.0					15																	70991908		2199	4297	6496	SO:0001589	frameshift_variant	0			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.170delA	15.37:g.70991908delT	ENSP00000314556:p.Lys57fs		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.K57fs	ENST00000322954.6	37	c.170	CCDS10235.1	15																																																																																			UACA	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000137831		0.403	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2		0.00	105	0	T			70991908	-1	tier1		no_errors	ENST00000322954	ensembl	human	known	74_37	frame_shift_del	31.87	62	29	DEL	1.000	-
UBA6	55236	genome.wustl.edu	37	4	68566794	68566794	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:68566794G>A	ENST00000322244.5	-	1	103	c.44C>T	c.(43-45)gCg>gTg	p.A15V	UBA6-AS1_ENST00000498917.2_RNA|UBA6_ENST00000420827.2_Missense_Mutation_p.A15V|UBA6-AS1_ENST00000506606.1_RNA|UBA6-AS1_ENST00000514109.1_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	15					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AGAACAGGACGCCTCTTCCCC	0.657											OREG0016213	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													47.0	45.0	45.0					4																	68566794		2203	4300	6503	SO:0001583	missense	0			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.44C>T	4.37:g.68566794G>A	ENSP00000313454:p.Ala15Val	1108	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.A15V	ENST00000322244.5	37	c.44	CCDS3516.1	4	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304703	0.40795	.	.	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.65178	0.84;-0.14	3.62	3.62	0.41486	.	0.000000	0.37577	N	0.002028	T	0.64057	0.2564	N	0.22421	0.69	0.32009	N	0.602318	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76071	0.987;0.987;0.939	T	0.67440	-0.5670	10	0.46703	T	0.11	4.9183	11.0606	0.47944	0.0:0.0:1.0:0.0	.	15;15;15	A0AVT1-4;A0AVT1-3;A0AVT1	.;.;UBA6_HUMAN	V	15	ENSP00000313454:A15V;ENSP00000399234:A15V	ENSP00000313454:A15V	A	-	2	0	UBA6	68249389	0.975000	0.34042	0.854000	0.33618	0.109000	0.19521	3.463000	0.53050	2.295000	0.77249	0.650000	0.86243	GCG	UBA6	-	NULL	ENSG00000033178		0.657	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6	HGNC	protein_coding	OTTHUMT00000251429.2	-	0.00	73	0	G	NM_018227		68566794	-1	tier1	-	no_errors	ENST00000322244	ensembl	human	known	74_37	missense	39.66	35	23	SNP	0.864	A
UBAP2L	9898	genome.wustl.edu	37	1	154227293	154227294	+	Intron	DEL	TT	TT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:154227293_154227294delTT	ENST00000361546.2	+	15	1896				UBAP2L_ENST00000271877.7_Intron|UBAP2L_ENST00000343815.6_Intron|UBAP2L_ENST00000428931.1_Intron|AL590431.1_ENST00000517008.1_RNA			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like						binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCTCTTCTGTTTTTTTTTTTT	0.401																																																	0																																										SO:0001627	intron_variant	0			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1855-18TT>-	1.37:g.154227303_154227304delTT			B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	RNA	DEL	-	NULL	ENST00000361546.2	37	NULL	CCDS1063.1	1																																																																																			UBAP2L	-	-	ENSG00000143569		0.401	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1		0.00	96	0	TT	NM_014847		154227294	+1	tier1		no_errors	ENST00000495676	ensembl	human	known	74_37	rna	23.60	68	21	DEL	0.026:0.101	-
UBAP2L	9898	genome.wustl.edu	37	1	154233427	154233427	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:154233427G>T	ENST00000361546.2	+	22	2680	c.2638G>T	c.(2638-2640)Gcc>Tcc	p.A880S	UBAP2L_ENST00000271877.7_Missense_Mutation_p.A891S|UBAP2L_ENST00000343815.6_Missense_Mutation_p.A880S|UBAP2L_ENST00000428931.1_Missense_Mutation_p.A880S|SNORA58_ENST00000364259.1_RNA			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	880					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACAACCTTGGCCCAACCCCA	0.597																																																	0													77.0	77.0	77.0					1																	154233427		2203	4300	6503	SO:0001583	missense	0			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2638G>T	1.37:g.154233427G>T	ENSP00000355343:p.Ala880Ser		B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.A880S	ENST00000361546.2	37	c.2638	CCDS1063.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.380113|4.380113	0.82682|0.82682	.|.	.|.	ENSG00000143569|ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000456955;ENST00000433006;ENST00000271877;ENST00000361546|ENST00000433615;ENST00000428595	T;T;T;T|.	0.32515|.	1.45;1.45;1.45;1.45|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.44726|0.44726	0.1307|0.1307	N|N	0.25380|0.25380	0.74|0.74	0.80722|0.80722	D|D	1|1	P;D;D;D;D;D;B|.	0.67145|.	0.534;0.996;0.996;0.996;0.984;0.99;0.361|.	P;D;D;D;D;D;P|.	0.77557|.	0.542;0.99;0.986;0.986;0.956;0.971;0.464|.	T|T	0.33317|0.33317	-0.9873|-0.9873	10|5	0.49607|.	T|.	0.09|.	-13.0253|-13.0253	17.9549|17.9549	0.89065|0.89065	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	794;891;873;880;376;880;880|.	B4DZJ6;F8W726;Q14157-4;Q14157-1;C9JD99;Q14157-3;Q14157|.	.;.;.;.;.;.;UBP2L_HUMAN|.	S|V	880;880;376;376;891;880|210;158	ENSP00000345308:A880S;ENSP00000389445:A880S;ENSP00000271877:A891S;ENSP00000355343:A880S|.	ENSP00000271877:A891S|.	A|G	+|+	1|2	0|0	UBAP2L|UBAP2L	152500051|152500051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.263000|9.263000	0.95617|0.95617	2.715000|2.715000	0.92844|0.92844	0.555000|0.555000	0.69702|0.69702	GCC|GGC	UBAP2L	-	NULL	ENSG00000143569		0.597	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1		0.00	43	0	G	NM_014847		154233427	+1			no_errors	ENST00000361546	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T
UBASH3B	84959	genome.wustl.edu	37	11	122678802	122678802	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:122678802C>T	ENST00000284273.5	+	13	2105	c.1730C>T	c.(1729-1731)gCa>gTa	p.A577V		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	577	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GTGGCCCACGCATCTTCCCTT	0.458																																																	0													345.0	329.0	334.0					11																	122678802		2202	4299	6501	SO:0001583	missense	0			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1730C>T	11.37:g.122678802C>T	ENSP00000284273:p.Ala577Val		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk	p.A577V	ENST00000284273.5	37	c.1730	CCDS31694.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.635803	0.96682	.	.	ENSG00000154127	ENST00000284273	T	0.32023	1.47	5.85	5.85	0.93711	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	T	0.52779	-0.8530	10	0.66056	D	0.02	-18.5526	19.7681	0.96350	0.0:1.0:0.0:0.0	.	577	Q8TF42	UBS3B_HUMAN	V	577	ENSP00000284273:A577V	ENSP00000284273:A577V	A	+	2	0	UBASH3B	122184012	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	7.426000	0.80270	2.768000	0.95171	0.655000	0.94253	GCA	UBASH3B	-	pfam_His_Pase_superF_clade-1	ENSG00000154127		0.458	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBASH3B	HGNC	protein_coding	OTTHUMT00000387499.1	-	0.00	65	0	C	NM_032873		122678802	+1	tier1	-	no_errors	ENST00000284273	ensembl	human	known	74_37	missense	46.55	31	27	SNP	1.000	T
UBE2C	11065	genome.wustl.edu	37	20	44443031	44443031	+	Silent	SNP	C	C	T	rs571249783		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:44443031C>T	ENST00000356455.4	+	3	258	c.138C>T	c.(136-138)ggC>ggT	p.G46G	UBE2C_ENST00000372568.4_Silent_p.G7G|UBE2C_ENST00000243893.6_Intron|UBE2C_ENST00000352551.5_Intron|UBE2C_ENST00000335046.3_Silent_p.G46G|UBE2C_ENST00000405520.1_Silent_p.G7G	NM_007019.2	NP_008950.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	46					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cyclin catabolic process (GO:0008054)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				AGATGTCTGGCGATAAAGGGA	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		16067	0.0		0.0	False		,,,				2504	0.001																0													87.0	73.0	77.0					20																	44443031		2203	4300	6503	SO:0001819	synonymous_variant	0			U73379	CCDS13370.1, CCDS13371.1, CCDS13372.1, CCDS13374.1, CCDS74733.1, CCDS74734.1	20q13.12	2007-02-05			ENSG00000175063	ENSG00000175063		"""Ubiquitin-conjugating enzymes E2"""	15937	protein-coding gene	gene with protein product		605574				9122200	Standard	NM_007019		Approved	UBCH10	uc002xpm.3	O00762	OTTHUMG00000033038	ENST00000356455.4:c.138C>T	20.37:g.44443031C>T			A6NP33|E1P5N7|G3XAB7	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.G46	ENST00000356455.4	37	c.138	CCDS13370.1	20																																																																																			UBE2C	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000175063		0.458	UBE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2C	HGNC	protein_coding	OTTHUMT00000080309.2	-	0.00	74	0	C	NM_007019		44443031	+1	tier1	-	no_errors	ENST00000356455	ensembl	human	known	74_37	silent	49.02	26	25	SNP	0.977	T
UBE2E1	7324	genome.wustl.edu	37	3	23932118	23932118	+	3'UTR	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:23932118A>G	ENST00000306627.3	+	0	822				UBE2E1_ENST00000475680.1_3'UTR|UBE2E1_ENST00000346855.3_3'UTR|UBE2E1_ENST00000424381.1_3'UTR	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)	7						CACAATTCTTACATTATTTGT	0.413																																																	0													69.0	61.0	64.0					3																	23932118		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"""Ubiquitin-conjugating enzymes E2"""	12477	protein-coding gene	gene with protein product		602916	"""ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"""			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.*21A>G	3.37:g.23932118A>G			B2RBX4|C9J8K2|K4DI90	RNA	SNP	-	NULL	ENST00000306627.3	37	NULL	CCDS2638.1	3																																																																																			UBE2E1	-	-	ENSG00000170142		0.413	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2E1	HGNC	protein_coding	OTTHUMT00000252882.2	-	0.00	64	0	A	NM_003341		23932118	+1	tier1	-	no_errors	ENST00000475680	ensembl	human	known	74_37	rna	42.42	38	28	SNP	0.083	G
UBE2M	9040	genome.wustl.edu	37	19	59067561	59067561	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:59067561G>A	ENST00000253023.3	-	6	1025	c.447C>T	c.(445-447)gcC>gcT	p.A149A	CHMP2A_ENST00000600118.1_5'Flank|CHMP2A_ENST00000312547.2_5'Flank|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000593642.1_RNA|CHMP2A_ENST00000601220.1_5'Flank	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	149					cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGACCTCTGCGGCCTCCTTGT	0.632																																																	0													63.0	65.0	64.0					19																	59067561		2203	4300	6503	SO:0001819	synonymous_variant	0			AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"""Ubiquitin-conjugating enzymes E2"""	12491	protein-coding gene	gene with protein product		603173	"""ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)"", ""ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"""			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.447C>T	19.37:g.59067561G>A			O76069|Q8VC50	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.A149	ENST00000253023.3	37	c.447	CCDS12987.1	19																																																																																			UBE2M	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000130725		0.632	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2M	HGNC	protein_coding	OTTHUMT00000467097.1	-	0.00	89	0	G	NM_003969		59067561	-1	tier1	-	no_errors	ENST00000253023	ensembl	human	known	74_37	silent	38.24	42	26	SNP	0.819	A
UBE2QL1	134111	genome.wustl.edu	37	5	6449100	6449100	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:6449100C>T	ENST00000399816.3	+	1	365	c.94C>T	c.(94-96)Cac>Tac	p.H32Y		NM_001145161.2	NP_001138633.1	A1L167	U2QL1_HUMAN	ubiquitin-conjugating enzyme E2Q family-like 1	32					protein ubiquitination (GO:0016567)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			breast(1)|endometrium(1)	2						CGTGAAGCTGCACCAGGTGGA	0.597																																																	0													233.0	228.0	230.0					5																	6449100		692	1591	2283	SO:0001583	missense	0			AK057805	CCDS47189.1	5p15.31	2010-02-17			ENSG00000215218	ENSG00000215218			37269	protein-coding gene	gene with protein product		615832					Standard	NM_001145161		Approved	FLJ25076	uc003jdp.4	A1L167	OTTHUMG00000161683	ENST00000399816.3:c.94C>T	5.37:g.6449100C>T	ENSP00000382713:p.His32Tyr			Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.H32Y	ENST00000399816.3	37	c.94	CCDS47189.1	5	.	.	.	.	.	.	.	.	.	.	C	8.575	0.880955	0.17467	.	.	ENSG00000215218	ENST00000399816	T	0.37058	1.22	4.17	4.17	0.49024	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	U	0.000000	T	0.25269	0.0614	L	0.33293	1	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.07252	-1.0782	10	0.05959	T	0.93	-18.7155	15.0899	0.72185	0.0:1.0:0.0:0.0	.	32	A1L167	U2QL1_HUMAN	Y	32	ENSP00000382713:H32Y	ENSP00000382713:H32Y	H	+	1	0	UBE2QL1	6502100	1.000000	0.71417	0.999000	0.59377	0.693000	0.40251	4.149000	0.58091	1.889000	0.54706	0.478000	0.44815	CAC	UBE2QL1	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000215218		0.597	UBE2QL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2QL1	HGNC	protein_coding	OTTHUMT00000365717.1	-	0.00	32	0	C	NM_001145161		6449100	+1	tier1	-	no_errors	ENST00000399816	ensembl	human	known	74_37	missense	18.00	41	9	SNP	1.000	T
UBE2V1	7335	genome.wustl.edu	37	20	48697884	48697885	+	3'UTR	DEL	AA	AA	-	rs74435910|rs201099481	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:48697884_48697885delAA	ENST00000371674.3	-	0	1908_1909				TMEM189_ENST00000557021.1_3'UTR|UBE2V1_ENST00000415862.2_3'UTR|UBE2V1_ENST00000420027.2_3'UTR|UBE2V1_ENST00000371677.3_3'UTR|UBE2V1_ENST00000340309.3_3'UTR|TMEM189-UBE2V1_ENST00000341698.2_3'UTR|UBE2V1_ENST00000371657.5_3'UTR|UBE2V1_ENST00000396059.3_5'UTR	NM_001032288.2|NM_001257395.1	NP_001027459.1|NP_001244324.1	Q13404	UB2V1_HUMAN	ubiquitin-conjugating enzyme E2 variant 1						cell differentiation (GO:0030154)|error-free postreplication DNA repair (GO:0042275)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of DNA repair (GO:0006282)|regulation of transcription, DNA-templated (GO:0006355)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-UEV1A complex (GO:0035370)|ubiquitin conjugating enzyme complex (GO:0031371)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(4)	9			BRCA - Breast invasive adenocarcinoma(9;4.74e-06)			ATACtaaattaaaaaaaaaaaa	0.342																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U39360	CCDS13426.1, CCDS13427.1, CCDS33483.1, CCDS58775.1, CCDS74740.1	20q13.2	2007-07-18			ENSG00000244687	ENSG00000244687		"""Ubiquitin-conjugating enzymes E2"""	12494	protein-coding gene	gene with protein product		602995		UBE2V		9418904, 9305758	Standard	NM_001032288		Approved	UEV-1, CROC-1, UEV1A, CROC1		Q13404	OTTHUMG00000152626	ENST00000371674.3:c.*1421TT>-	20.37:g.48697894_48697895delAA			E1P629|Q13403|Q13532|Q5TGE0|Q5TGE3|Q96H34|Q9GZT0|Q9GZW1|Q9H4J3|Q9H4J4|Q9UKL1|Q9UM48|Q9UM49|Q9UM50	RNA	DEL	-	NULL	ENST00000371674.3	37	NULL	CCDS33483.1	20																																																																																			UBE2V1	-	-	ENSG00000244687		0.342	UBE2V1-004	KNOWN	basic|CCDS	protein_coding	UBE2V1	HGNC	protein_coding	OTTHUMT00000080530.1		0.00	50	0	AA	NM_021988		48697885	-1	tier1		no_errors	ENST00000396059	ensembl	human	known	74_37	rna	36.84	24	14	DEL	0.185:0.007	-
UBR5	51366	genome.wustl.edu	37	8	103277382	103277382	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:103277382G>T	ENST00000520539.1	-	53	8153	c.7547C>A	c.(7546-7548)cCa>cAa	p.P2516Q	UBR5_ENST00000220959.4_Missense_Mutation_p.P2515Q|UBR5_ENST00000521922.1_Missense_Mutation_p.P2509Q|UBR5_ENST00000518205.1_Missense_Mutation_p.P244Q	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2516	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCCAGGCCTTGGAGTATAAAA	0.363																																					Ovarian(131;96 1741 5634 7352 27489)												0													117.0	115.0	115.0					8																	103277382		2203	4300	6503	SO:0001583	missense	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.7547C>A	8.37:g.103277382G>T	ENSP00000429084:p.Pro2516Gln		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.P2516Q	ENST00000520539.1	37	c.7547	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322668	0.81580	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.26	4.39	0.52855	HECT (4);	0.061260	0.64402	D	0.000003	D	0.82365	0.5021	H	0.95260	3.645	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87702	0.2561	10	0.87932	D	0	.	14.165	0.65471	0.0726:0.0:0.9274:0.0	.	2509;2516	E7EMW7;O95071	.;UBR5_HUMAN	Q	2516;2515;244;2509	ENSP00000429084:P2516Q;ENSP00000220959:P2515Q;ENSP00000428693:P244Q;ENSP00000427819:P2509Q	ENSP00000220959:P2515Q	P	-	2	0	UBR5	103346558	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.420000	0.97426	1.336000	0.45506	0.655000	0.94253	CCA	UBR5	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000104517		0.363	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	-	0.00	38	0	G	NM_015902		103277382	-1	tier1	-	no_errors	ENST00000520539	ensembl	human	known	74_37	missense	6.06	61	4	SNP	1.000	T
UBR5	51366	genome.wustl.edu	37	8	103289349	103289349	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:103289349delT	ENST00000520539.1	-	45	6966	c.6360delA	c.(6358-6360)aaafs	p.K2120fs	UBR5_ENST00000220959.4_Frame_Shift_Del_p.K2120fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.K2114fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2120					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTCCCCTTCTTTTTTTTGCC	0.378																																					Ovarian(131;96 1741 5634 7352 27489)												2	Deletion - Frameshift(2)	breast(1)|kidney(1)											137.0	130.0	132.0					8																	103289349		2203	4300	6503	SO:0001589	frameshift_variant	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6360delA	8.37:g.103289349delT	ENSP00000429084:p.Lys2120fs		B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Del	DEL	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.E2121fs	ENST00000520539.1	37	c.6360	CCDS34933.1	8																																																																																			UBR5	-	NULL	ENSG00000104517		0.378	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2		0.00	141	0	T	NM_015902		103289349	-1	tier1		no_errors	ENST00000520539	ensembl	human	known	74_37	frame_shift_del	18.78	186	43	DEL	0.987	-
UBR5	51366	genome.wustl.edu	37	8	103297931	103297931	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:103297931G>A	ENST00000520539.1	-	39	5900	c.5294C>T	c.(5293-5295)gCa>gTa	p.A1765V	UBR5_ENST00000220959.4_Missense_Mutation_p.A1765V|UBR5_ENST00000521922.1_Missense_Mutation_p.A1759V|UBR5_ENST00000519528.1_5'Flank	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1765	Poly-Ala.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGCAGCTGCTGCAGCTGCAGC	0.463																																					Ovarian(131;96 1741 5634 7352 27489)												0													68.0	65.0	66.0					8																	103297931		2203	4300	6503	SO:0001583	missense	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5294C>T	8.37:g.103297931G>A	ENSP00000429084:p.Ala1765Val		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.A1765V	ENST00000520539.1	37	c.5294	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.184686	0.94885	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.47177	0.85;0.85;0.85	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.60586	0.2280	L	0.34521	1.04	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.61720	-0.7005	10	0.66056	D	0.02	.	19.8316	0.96638	0.0:0.0:1.0:0.0	.	1759;1765	E7EMW7;O95071	.;UBR5_HUMAN	V	1765;1765;1759	ENSP00000429084:A1765V;ENSP00000220959:A1765V;ENSP00000427819:A1759V	ENSP00000220959:A1765V	A	-	2	0	UBR5	103367107	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.827000	0.99397	2.687000	0.91594	0.563000	0.77884	GCA	UBR5	-	NULL	ENSG00000104517		0.463	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2		0.00	19	0	G	NM_015902		103297931	-1			no_errors	ENST00000520539	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	A
UBXN4	23190	genome.wustl.edu	37	2	136528170	136528170	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:136528170delA	ENST00000272638.9	+	8	998	c.687delA	c.(685-687)agafs	p.R229fs	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	229					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TTGAGAGGAGAAAAACTGGAA	0.313																																																	0													55.0	51.0	52.0					2																	136528170		1790	4065	5855	SO:0001589	frameshift_variant	0			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.687delA	2.37:g.136528170delA	ENSP00000272638:p.Arg229fs		A8K9W4|Q4ZG56|Q8IYM5	Frame_Shift_Del	DEL	pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX	p.T231fs	ENST00000272638.9	37	c.687	CCDS42761.1	2																																																																																			UBXN4	-	NULL	ENSG00000144224		0.313	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN4	HGNC	protein_coding	OTTHUMT00000331696.1		0.00	26	0	A	NM_014607		136528170	+1	tier1		no_errors	ENST00000272638	ensembl	human	known	74_37	frame_shift_del	35.14	24	13	DEL	0.997	-
UBXN6	80700	genome.wustl.edu	37	19	4446060	4446060	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4446060T>C	ENST00000301281.6	-	10	1310	c.1186A>G	c.(1186-1188)Aac>Gac	p.N396D	MIR4746_ENST00000579802.1_RNA|UBXN6_ENST00000394765.3_Missense_Mutation_p.N343D|CTB-50L17.7_ENST00000588798.1_RNA	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	396	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CCGCACTCGTTCAAGGCCAGG	0.677																																																	0													59.0	58.0	59.0					19																	4446060		2203	4300	6503	SO:0001583	missense	0			AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.1186A>G	19.37:g.4446060T>C	ENSP00000301281:p.Asn396Asp		D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	SNP	pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX	p.N396D	ENST00000301281.6	37	c.1186	CCDS12129.1	19	.	.	.	.	.	.	.	.	.	.	T	20.3	3.965048	0.74131	.	.	ENSG00000167671	ENST00000301281;ENST00000394765	T;T	0.41758	0.99;0.99	5.66	4.63	0.57726	UBX (3);	0.466226	0.24623	N	0.036941	T	0.45677	0.1354	L	0.35593	1.075	0.39695	D	0.971094	P;D	0.59357	0.793;0.985	P;P	0.56563	0.452;0.801	T	0.35699	-0.9778	10	0.36615	T	0.2	-21.318	12.2019	0.54331	0.0:0.0:0.1428:0.8571	.	343;396	Q9BZV1-2;Q9BZV1	.;UBXN6_HUMAN	D	396;343	ENSP00000301281:N396D;ENSP00000378246:N343D	ENSP00000301281:N396D	N	-	1	0	UBXN6	4397060	1.000000	0.71417	0.911000	0.35937	0.722000	0.41435	4.451000	0.60047	0.964000	0.38108	0.459000	0.35465	AAC	UBXN6	-	pfam_UBX,smart_UBX,pfscan_UBX	ENSG00000167671		0.677	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN6	HGNC	protein_coding	OTTHUMT00000458447.3		0.00	18	0	T	NM_025241		4446060	-1			no_errors	ENST00000301281	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.978	C
UBXN7	26043	genome.wustl.edu	37	3	196089199	196089199	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:196089199delT	ENST00000296328.4	-	9	1268	c.1194delA	c.(1192-1194)aaafs	p.K398fs	UBXN7_ENST00000535858.1_Frame_Shift_Del_p.K250fs|UBXN7_ENST00000428095.1_Frame_Shift_Del_p.K236fs	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	398						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTCCATCTGCTTTTTCAGGTG	0.478																																																	0													147.0	135.0	139.0					3																	196089199		1930	4128	6058	SO:0001589	frameshift_variant	0			AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.1194delA	3.37:g.196089199delT	ENSP00000296328:p.Lys398fs		D3DXB3|Q6ZP77|Q86X20|Q8N327	Frame_Shift_Del	DEL	pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX	p.A399fs	ENST00000296328.4	37	c.1194	CCDS43191.1	3																																																																																			UBXN7	-	pirsf_UCP037991_UAS/UBX	ENSG00000163960		0.478	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN7	HGNC	protein_coding	OTTHUMT00000340938.2		0.00	77	0	T	XM_087353		196089199	-1	tier1		no_errors	ENST00000296328	ensembl	human	known	74_37	frame_shift_del	37.29	37	22	DEL	0.815	-
UCK2	7371	genome.wustl.edu	37	1	165877195	165877195	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:165877195delT	ENST00000367879.4	+	0	1224				UCK2_ENST00000469256.2_3'UTR|UCK2_ENST00000462329.1_3'UTR|UCK2_ENST00000372212.4_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2						cellular response to oxygen levels (GO:0071453)|CTP salvage (GO:0044211)|feeding behavior (GO:0007631)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|response to axon injury (GO:0048678)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|nucleoside kinase activity (GO:0019206)|uridine kinase activity (GO:0004849)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ATGCCTTTGATTTTTTTTTTC	0.383																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF236637	CCDS1252.1	1p32	2012-10-02	2004-07-13	2004-07-14	ENSG00000143179	ENSG00000143179	2.7.1.48		12562	protein-coding gene	gene with protein product		609329	"""uridine monophosphate kinase"""	UMPK			Standard	NM_012474		Approved		uc001gdp.3	Q9BZX2	OTTHUMG00000040117	ENST00000367879.4:c.*135T>-	1.37:g.165877195delT			Q5VV91|Q7KZV3|Q92528|Q96KG5|Q9BU42	RNA	DEL	-	NULL	ENST00000367879.4	37	NULL	CCDS1252.1	1																																																																																			UCK2	-	-	ENSG00000143179		0.383	UCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCK2	HGNC	protein_coding	OTTHUMT00000096753.1		0.00	31	0	T	NM_012474		165877195	+1	tier1		no_errors	ENST00000462329	ensembl	human	known	74_37	rna	24.53	40	13	DEL	0.021	-
UEVLD	55293	genome.wustl.edu	37	11	18566189	18566189	+	Silent	SNP	G	G	A	rs546060237		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:18566189G>A	ENST00000541984.1	-	6	632	c.570C>T	c.(568-570)ggC>ggT	p.G190G	UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000396197.3_Silent_p.G347G|UEVLD_ENST00000320750.6_Silent_p.G325G|UEVLD_ENST00000379387.4_Silent_p.G325G|UEVLD_ENST00000543987.1_Silent_p.G347G|UEVLD_ENST00000535484.1_Silent_p.G309G	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CTCCTTGCTCGCCAATAACCC	0.428																																																	0													220.0	203.0	209.0					11																	18566189		2199	4293	6492	SO:0001819	synonymous_variant	0			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.570C>T	11.37:g.18566189G>A				Silent	SNP	pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH	p.G347	ENST00000541984.1	37	c.1041	CCDS58125.1	11																																																																																			UEVLD	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH	ENSG00000151116		0.428	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	UEVLD	HGNC	protein_coding	OTTHUMT00000395928.1	-	0.00	30	0	G	NM_018314		18566189	-1	tier1	-	no_errors	ENST00000396197	ensembl	human	known	74_37	silent	45.16	17	14	SNP	0.964	A
UCP3	7352	genome.wustl.edu	37	11	73712474	73712474	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:73712474G>A	ENST00000314032.4	-	7	1474	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	UCP3_ENST00000545271.1_5'Flank|UCP3_ENST00000348534.4_Missense_Mutation_p.R206W	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	308					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GGTGATTCCCGTAACATCTGG	0.483																																																	0													147.0	109.0	122.0					11																	73712474		2200	4293	6493	SO:0001583	missense	0			AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.922C>T	11.37:g.73712474G>A	ENSP00000323740:p.Arg308Trp		O60475|Q96HL3	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier	p.R308W	ENST00000314032.4	37	c.922	CCDS8229.1	11	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580692	0.28180	.	.	ENSG00000175564	ENST00000314032;ENST00000348534	T;T	0.80393	-1.37;-1.22	5.45	0.88	0.19161	.	0.283980	0.20227	N	0.096570	T	0.55305	0.1912	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39820	-0.9595	10	0.36615	T	0.2	-20.7762	2.6957	0.05134	0.3419:0.0:0.3158:0.3423	.	308	P55916	UCP3_HUMAN	W	308;206	ENSP00000323740:R308W;ENSP00000343615:R206W	ENSP00000323740:R308W	R	-	1	2	UCP3	73390122	0.708000	0.27876	0.370000	0.25965	0.810000	0.45777	0.713000	0.25794	0.357000	0.24183	-0.137000	0.14449	CGG	UCP3	-	prints_Mit_uncoupling	ENSG00000175564		0.483	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP3	HGNC	protein_coding	OTTHUMT00000398200.1	-	0.00	112	0	G	NM_003356		73712474	-1	tier1	-	no_errors	ENST00000314032	ensembl	human	known	74_37	missense	39.00	61	39	SNP	0.245	A
UHRF1	29128	genome.wustl.edu	37	19	4910891	4910891	+	RNA	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4910891C>T	ENST00000592666.1	+	0	570							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCCTCAGCGCCGACACCATGT	0.607											OREG0025176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													71.0	80.0	77.0					19																	4910891		2024	4185	6209			0			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4910891C>T		622	A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	-	NULL	ENST00000592666.1	37	NULL		19																																																																																			UHRF1	-	-	ENSG00000034063		0.607	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	HGNC	processed_transcript	OTTHUMT00000450444.1	-	0.00	39	0	C	NM_001048201		4910891	+1	tier1	-	no_errors	ENST00000262952	ensembl	human	known	74_37	rna	41.46	24	17	SNP	0.969	T
UHRF1	29128	genome.wustl.edu	37	19	4944160	4944160	+	RNA	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:4944160C>A	ENST00000592666.1	+	0	1666							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCCTGAGTGCCGGAATGATGC	0.627																																																	0													53.0	64.0	61.0					19																	4944160		2152	4228	6380			0			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4944160C>A			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	-	NULL	ENST00000592666.1	37	NULL		19																																																																																			UHRF1	-	-	ENSG00000034063		0.627	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	HGNC	processed_transcript	OTTHUMT00000450444.1	-	0.00	98	0	C	NM_001048201		4944160	+1	tier1	-	no_errors	ENST00000262952	ensembl	human	known	74_37	rna	31.08	51	23	SNP	0.997	A
ULK1	8408	genome.wustl.edu	37	12	132400471	132400471	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:132400471G>T	ENST00000321867.4	+	19	1996	c.1645G>T	c.(1645-1647)Ggg>Tgg	p.G549W	ULK1_ENST00000540647.1_5'Flank	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	549					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)	p.G549R(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCGCACTTCCGGGCTGGGCTG	0.692																																																	1	Substitution - Missense(1)	kidney(1)											38.0	45.0	43.0					12																	132400471		2203	4295	6498	SO:0001583	missense	0			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.1645G>T	12.37:g.132400471G>T	ENSP00000324560:p.Gly549Trp		Q9UQ28	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G549W	ENST00000321867.4	37	c.1645	CCDS9274.1	12	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094503	0.56075	.	.	ENSG00000177169	ENST00000321867	T	0.39406	1.08	5.48	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.63022	0.2476	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66131	-0.6000	10	0.56958	D	0.05	-30.6506	14.1131	0.65134	0.0724:0.0:0.9276:0.0	.	549	O75385	ULK1_HUMAN	W	549	ENSP00000324560:G549W	ENSP00000324560:G549W	G	+	1	0	ULK1	130966424	1.000000	0.71417	0.557000	0.28306	0.133000	0.20885	8.671000	0.91174	1.322000	0.45245	0.561000	0.74099	GGG	ULK1	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2	ENSG00000177169		0.692	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	HGNC	protein_coding	OTTHUMT00000397769.3		0.00	50	0	G			132400471	+1			no_errors	ENST00000321867	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.993	T
UMOD	7369	genome.wustl.edu	37	16	20360037	20360037	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:20360037C>T	ENST00000570689.1	-	3	732	c.586G>A	c.(586-588)Gac>Aac	p.D196N	UMOD_ENST00000396134.2_Missense_Mutation_p.D229N|UMOD_ENST00000396138.4_Missense_Mutation_p.D245N|UMOD_ENST00000424589.1_Missense_Mutation_p.D229N|UMOD_ENST00000396142.2_Missense_Mutation_p.D196N|UMOD_ENST00000302509.4_Missense_Mutation_p.D196N			P07911	UROM_HUMAN	uromodulin	196					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGTCCGTGTCGCAGGCGTAG	0.736																																																	0													7.0	7.0	7.0					16																	20360037		2145	4179	6324	SO:0001583	missense	0			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.586G>A	16.37:g.20360037C>T	ENSP00000460548:p.Asp196Asn		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom	p.D229N	ENST00000570689.1	37	c.685	CCDS10583.1	16	.	.	.	.	.	.	.	.	.	.	c	22.2	4.262159	0.80358	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.99652	-6.3;-6.3;-6.3;-6.3	4.82	4.82	0.62117	.	0.000000	0.53938	D	0.000041	D	0.99566	0.9844	M	0.90425	3.115	0.41946	D	0.990631	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.99986	1.3237	10	0.07990	T	0.79	-47.6583	15.4234	0.75031	0.0:1.0:0.0:0.0	.	229;196	E9PEA4;P07911	.;UROM_HUMAN	N	196;229;229;196;174;196	ENSP00000379438:D229N;ENSP00000416346:D229N;ENSP00000306279:D196N;ENSP00000379446:D196N	ENSP00000306279:D196N	D	-	1	0	UMOD	20267538	1.000000	0.71417	0.920000	0.36463	0.054000	0.15201	5.200000	0.65158	2.480000	0.83734	0.556000	0.70494	GAC	UMOD	-	NULL	ENSG00000169344		0.736	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	-	0.00	12	0	C			20360037	-1	tier1	-	no_errors	ENST00000424589	ensembl	human	known	74_37	missense	45.45	6	5	SNP	0.998	T
UMODL1	89766	genome.wustl.edu	37	21	43547905	43547905	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:43547905C>T	ENST00000408910.2	+	20	3654	c.3654C>T	c.(3652-3654)cgC>cgT	p.R1218R	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Silent_p.R1274R|UMODL1_ENST00000400424.2_Silent_p.R1146R|UMODL1_ENST00000408989.2_Silent_p.R1346R	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1218	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCAAACTCCGCGTCTGCATGG	0.473																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0													120.0	118.0	118.0					21																	43547905		1990	4169	6159	SO:0001819	synonymous_variant	0				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3654C>T	21.37:g.43547905C>T			C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.R1346	ENST00000408910.2	37	c.4038	CCDS42936.1	21																																																																																			UMODL1	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	ENSG00000177398		0.473	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	-	0.00	107	0	C			43547905	+1	tier1	-	no_errors	ENST00000408989	ensembl	human	known	74_37	silent	37.21	54	32	SNP	0.000	T
UNC13B	10497	genome.wustl.edu	37	9	35396556	35396556	+	Missense_Mutation	SNP	C	C	T	rs151027172	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:35396556C>T	ENST00000378495.3	+	26	3367	c.3145C>T	c.(3145-3147)Cgg>Tgg	p.R1049W	UNC13B_ENST00000378496.4_Missense_Mutation_p.R1049W|UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000396787.1_Missense_Mutation_p.R1061W	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1049	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGAATACGTGCGGGATCTGCC	0.552																																																	0								C	TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	107.0	89.0	95.0		3145	4.8	0.2	9	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	yes	missense	UNC13B	NM_006377.3	101	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	possibly-damaging	1049/1592	35396556	5,13001	2203	4300	6503	SO:0001583	missense	0			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3145C>T	9.37:g.35396556C>T	ENSP00000367756:p.Arg1049Trp		Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.R1049W	ENST00000378495.3	37	c.3145	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	C	17.90	3.500901	0.64298	9.08E-4	1.16E-4	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	D;D;D	0.84730	-1.76;-1.69;-1.89	5.66	4.76	0.60689	Munc13 homology 1 (1);	0.523790	0.23100	N	0.051936	D	0.82379	0.5024	L	0.36672	1.1	0.30541	N	0.766439	D;D	0.71674	0.998;0.997	P;P	0.50192	0.613;0.634	T	0.81581	-0.0867	10	0.72032	D	0.01	-0.3098	9.6012	0.39605	0.0:0.7588:0.1289:0.1123	.	1049;1049	F8W8M9;O14795	.;UN13B_HUMAN	W	1061;1049;1049;636	ENSP00000380006:R1061W;ENSP00000367756:R1049W;ENSP00000367757:R1049W	ENSP00000367756:R1049W	R	+	1	2	UNC13B	35386556	0.004000	0.15560	0.225000	0.23894	0.885000	0.51271	1.116000	0.31221	1.381000	0.46364	0.557000	0.71058	CGG	UNC13B	-	NULL	ENSG00000198722		0.552	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	-	0.00	42	0	C	NM_006377		35396556	+1	tier1	rs151027172	no_errors	ENST00000378496	ensembl	human	known	74_37	missense	42.50	23	17	SNP	0.483	T
UNC13C	440279	genome.wustl.edu	37	15	54685306	54685306	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:54685306T>G	ENST00000260323.11	+	17	4774	c.4774T>G	c.(4774-4776)Tgg>Ggg	p.W1592G	UNC13C_ENST00000545554.1_Missense_Mutation_p.W1592G|UNC13C_ENST00000537900.1_Missense_Mutation_p.W1590G	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1592					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTGGATTTTTGGCCCCAACT	0.388																																																	0													94.0	92.0	92.0					15																	54685306		1827	4074	5901	SO:0001583	missense	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4774T>G	15.37:g.54685306T>G	ENSP00000260323:p.Trp1592Gly		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.W1592G	ENST00000260323.11	37	c.4774	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122531	0.77436	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.84223	-1.8;-1.82;-1.81	5.34	5.34	0.76211	Calcium-dependent secretion activator (1);	0.000000	0.85682	D	0.000000	D	0.92665	0.7669	M	0.86178	2.8	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	D	0.93602	0.6931	10	0.66056	D	0.02	.	14.1561	0.65419	0.0:0.0:0.0:1.0	.	1592;1592	F5H090;Q8NB66	.;UN13C_HUMAN	G	1592;1592;1590	ENSP00000260323:W1592G;ENSP00000438156:W1592G;ENSP00000442569:W1590G	ENSP00000260323:W1592G	W	+	1	0	UNC13C	52472598	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.923000	0.87546	2.043000	0.60533	0.528000	0.53228	TGG	UNC13C	-	pfam_Ca-dep_secretion_activator	ENSG00000137766		0.388	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	-	0.00	80	0	T	NM_173166		54685306	+1	tier1	-	no_errors	ENST00000260323	ensembl	human	known	74_37	missense	37.04	51	30	SNP	1.000	G
UNC45A	55898	genome.wustl.edu	37	15	91485759	91485759	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:91485759G>A	ENST00000418476.2	+	7	820	c.780G>A	c.(778-780)ctG>ctA	p.L260L	UNC45A_ENST00000394275.2_Silent_p.L245L|UNC45A_ENST00000553671.2_Intron	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	260					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCTGCCACCTGCTGCAGGTTA	0.577																																																	0													111.0	98.0	102.0					15																	91485759		2198	4298	6496	SO:0001819	synonymous_variant	0				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.780G>A	15.37:g.91485759G>A			A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Silent	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L260	ENST00000418476.2	37	c.780	CCDS10367.1	15																																																																																			UNC45A	-	superfamily_ARM-type_fold	ENSG00000140553		0.577	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45A	HGNC	protein_coding	OTTHUMT00000280406.2	-	0.00	63	0	G	NM_018671		91485759	+1	tier1	-	no_errors	ENST00000418476	ensembl	human	known	74_37	silent	30.77	36	16	SNP	1.000	A
UNC5C	8633	genome.wustl.edu	37	4	96140293	96140294	+	Frame_Shift_Ins	INS	-	-	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:96140293_96140294insG	ENST00000453304.1	-	9	1819_1820	c.1471_1472insC	c.(1471-1473)caafs	p.Q491fs	UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.Q510fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	491					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGTCATCTTGGGGGGTGACA	0.505																																																	0																																										SO:0001589	frameshift_variant	0			AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1472dupC	4.37:g.96140299_96140299dupG	ENSP00000406022:p.Gln491fs		Q8IUT0	Frame_Shift_Ins	INS	pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.Q491fs	ENST00000453304.1	37	c.1472_1471	CCDS3643.1	4																																																																																			UNC5C	-	NULL	ENSG00000182168		0.505	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5C	HGNC	protein_coding	OTTHUMT00000253607.1		0.00	50	0	-	NM_003728		96140294	-1	tier1		no_errors	ENST00000453304	ensembl	human	known	74_37	frame_shift_ins	41.18	20	14	INS	0.999:0.999	G
UNC79	57578	genome.wustl.edu	37	14	94088050	94088050	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:94088050delA	ENST00000393151.2	+	30	4471	c.4471delA	c.(4471-4473)aaafs	p.K1493fs	UNC79_ENST00000553484.1_Frame_Shift_Del_p.K1515fs|UNC79_ENST00000555664.1_Frame_Shift_Del_p.K1493fs|UNC79_ENST00000256339.4_Frame_Shift_Del_p.K1316fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1493					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGCATTCCGAAAAAAAAGCT	0.398																																																	0													69.0	70.0	69.0					14																	94088050		2203	4300	6503	SO:0001589	frameshift_variant	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4471delA	14.37:g.94088050delA	ENSP00000376858:p.Lys1493fs		B5MDL6|Q6ZUT7	Frame_Shift_Del	DEL	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.K1515fs	ENST00000393151.2	37	c.4537		14																																																																																			UNC79	-	superfamily_ARM-type_fold	ENSG00000133958		0.398	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1		0.00	49	0	A	XM_028395		94088050	+1	tier1		no_errors	ENST00000553484	ensembl	human	known	74_37	frame_shift_del	29.41	24	10	DEL	1.000	-
UPF3A	65110	genome.wustl.edu	37	13	115057211	115057211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:115057211delA	ENST00000375299.3	+	7	846	c.790delA	c.(790-792)aaafs	p.K266fs	UPF3A_ENST00000351487.5_Frame_Shift_Del_p.K233fs|UPF3A_ENST00000475218.2_3'UTR	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	266					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		agaaagatgcaaaaaaaaaga	0.363																																																	0									,	20,35,4205		1,0,18,1,33,2077	38.0	39.0	39.0		,	-1.8	0.0	13		39	41,44,8143		3,0,35,0,44,4032	no	codingComplex,codingComplex	UPF3A	NM_080687.2,NM_023011.3	,	4,0,53,1,77,6109	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0331,1.2911,1.1211	,	,	115057211	61,79,12348	2200	4295	6495	SO:0001589	frameshift_variant	0			AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.790delA	13.37:g.115057211delA	ENSP00000364448:p.Lys266fs		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Frame_Shift_Del	DEL	pfam_Nonsense_mediated_decay_UPF3	p.E267fs	ENST00000375299.3	37	c.790	CCDS9543.1	13																																																																																			UPF3A	-	NULL	ENSG00000169062		0.363	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPF3A	HGNC	protein_coding	OTTHUMT00000045968.2		0.00	51	0	A			115057211	+1	tier1		no_errors	ENST00000375299	ensembl	human	known	74_37	frame_shift_del	37.66	48	29	DEL	0.943	-
UQCC2	84300	genome.wustl.edu	37	6	33668253	33668253	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:33668253G>A	ENST00000607484.1	-	3	291	c.251C>T	c.(250-252)tCg>tTg	p.S84L	UQCC2_ENST00000374214.3_Missense_Mutation_p.S59L|MIR3934_ENST00000579806.1_RNA	NM_032340.3	NP_115716.1	Q9BRT2	UQCC2_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 2	84					regulation of insulin secretion (GO:0050796)|regulation of oxidative phosphorylation (GO:0002082)|regulation of skeletal muscle cell differentiation (GO:2001014)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CTCTTCCAACGACAGGCCACT	0.537											OREG0017352	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													202.0	199.0	200.0					6																	33668253		2203	4300	6503	SO:0001583	missense	0				CCDS4784.1	6p21.31	2013-09-20	2013-09-20	2013-09-20	ENSG00000137288	ENSG00000137288		"""Mitochondrial respiratory chain complex assembly factors"""	21237	protein-coding gene	gene with protein product	"""cytochrome B protein synthesis 6 homolog (S. cerevisiae)"""	614461	"""chromosome 6 open reading frame 125"", ""mitochondrial nucleoid factor 1"""	C6orf125, MNF1		19643811	Standard	NM_032340		Approved	MGC14833, bA6B20.2, M19, Cbp6	uc003ofa.2	Q9BRT2	OTTHUMG00000014534	ENST00000607484.1:c.251C>T	6.37:g.33668253G>A	ENSP00000476140:p.Ser84Leu	841	B2R4I0	Missense_Mutation	SNP	NULL	p.S84L	ENST00000607484.1	37	c.251	CCDS4784.1	6	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358437	0.61403	.	.	ENSG00000137288	ENST00000374231;ENST00000374214	.	.	.	6.02	6.02	0.97574	.	0.056534	0.64402	D	0.000003	T	0.46521	0.1397	L	0.45137	1.4	0.39982	D	0.974932	B	0.22909	0.077	B	0.13407	0.009	T	0.46190	-0.9209	9	0.72032	D	0.01	.	18.7276	0.91720	0.0:0.0:1.0:0.0	.	84	Q9BRT2	CF125_HUMAN	L	84;59	.	ENSP00000363331:S59L	S	-	2	0	C6orf125	33776231	1.000000	0.71417	0.882000	0.34594	0.705000	0.40729	6.360000	0.73064	2.850000	0.98022	0.650000	0.86243	TCG	UQCC2	-	NULL	ENSG00000137288		0.537	UQCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCC2	HGNC	protein_coding	OTTHUMT00000040207.2	-	0.00	90	0	G	NM_032340		33668253	-1	tier1	-	no_errors	ENST00000607484	ensembl	human	known	74_37	missense	38.78	59	38	SNP	0.990	A
UQCRC1	7384	genome.wustl.edu	37	3	48637505	48637505	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:48637505G>A	ENST00000203407.5	-	11	1709	c.1293C>T	c.(1291-1293)agC>agT	p.S431S		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	431					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCGCAATCCGGCTTTCCCATT	0.612																																					NSCLC(81;1112 1427 27031 32409 45529)												0													85.0	81.0	82.0					3																	48637505		2203	4300	6503	SO:0001819	synonymous_variant	0			BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.1293C>T	3.37:g.48637505G>A			B2R7R8|Q96DD2	Silent	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.S431	ENST00000203407.5	37	c.1293	CCDS2774.1	3																																																																																			UQCRC1	-	superfamily_Metalloenz_LuxS/M16	ENSG00000010256		0.612	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC1	HGNC	protein_coding	OTTHUMT00000257517.1	-	0.00	24	0	G	NM_003365		48637505	-1	tier1	-	no_errors	ENST00000203407	ensembl	human	known	74_37	silent	38.46	16	10	SNP	1.000	A
UQCRC2	7385	genome.wustl.edu	37	16	21980007	21980007	+	Splice_Site	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:21980007G>T	ENST00000268379.4	+	8	1434		c.e8+1		UQCRC2_ENST00000561553.1_Splice_Site	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		ATTGGACTTGGTAAGTTTAGA	0.343																																					Colon(123;450 1645 12841 25393 45623)												0													202.0	187.0	192.0					16																	21980007		2198	4300	6498	SO:0001630	splice_region_variant	0			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.670+1G>T	16.37:g.21980007G>T			B3KSN4|Q9BQ05	Splice_Site	SNP	-	e8+1	ENST00000268379.4	37	c.670+1	CCDS10601.1	16	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273940	0.80580	.	.	ENSG00000140740	ENST00000268379	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5936	0.88004	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UQCRC2	21887508	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.862000	0.92283	2.557000	0.86248	0.585000	0.79938	.	UQCRC2	-	-	ENSG00000140740		0.343	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC2	HGNC	protein_coding	OTTHUMT00000254466.1	-	0.00	87	0	G	NM_003366	Intron	21980007	+1	tier1	-	no_errors	ENST00000268379	ensembl	human	known	74_37	splice_site	5.41	105	6	SNP	1.000	T
GAS8	2622	genome.wustl.edu	37	16	90110921	90110921	+	3'UTR	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:90110921G>T	ENST00000268699.4	+	0	2727				URAHP_ENST00000517889.1_RNA	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		TCCACATGTGGGTAGAAGCTT	0.607																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.*1168G>T	16.37:g.90110921G>T			B2RCT1|B7Z4U1|G3V1L5|Q2M234	RNA	SNP	-	NULL	ENST00000268699.4	37	NULL	CCDS10992.1	16	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376482	0.61735	.	.	ENSG00000222019	ENST00000517889;ENST00000521551	D;D	0.95949	-3.86;-3.86	5.27	5.27	0.74061	.	.	.	.	.	D	0.97611	0.9217	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97766	1.0223	7	.	.	.	-14.3809	16.6694	0.85261	0.0:0.0:1.0:0.0	.	33;33	B7Z8Y8;E5RIB0	.;.	T	33	ENSP00000431116:P33T;ENSP00000429460:P33T	.	P	-	1	0	AC133919.6	88638422	1.000000	0.71417	0.997000	0.53966	0.505000	0.33919	5.417000	0.66423	2.478000	0.83669	0.462000	0.41574	CCA	URAHP	-	-	ENSG00000222019		0.607	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URAHP	HGNC	protein_coding	OTTHUMT00000272877.2	-	0.00	41	0	G			90110921	-1	tier1	-	no_errors	ENST00000409768	ensembl	human	known	74_37	rna	12.90	27	4	SNP	1.000	T
URI1	8725	genome.wustl.edu	37	19	30503199	30503199	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:30503199G>A	ENST00000542441.2	+	10	1483	c.1186G>A	c.(1186-1188)Gtt>Att	p.V396I	URI1_ENST00000392271.1_Missense_Mutation_p.V320I|URI1_ENST00000312051.6_Missense_Mutation_p.V356I|URI1_ENST00000360605.4_Missense_Mutation_p.V378I			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	396					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										CAGAGCCTTTGTTGATGTTGT	0.373																																																	0													161.0	152.0	155.0					19																	30503199		2203	4300	6503	SO:0001583	missense	0			AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1186G>A	19.37:g.30503199G>A	ENSP00000442436:p.Val396Ile		A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin	p.V396I	ENST00000542441.2	37	c.1186	CCDS12420.1	19	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126470	0.77549	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T	0.55588	0.51	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	M	0.63843	1.955	0.58432	D	0.999998	D;D;D	0.65815	0.995;0.991;0.978	P;P;P	0.60789	0.879;0.815;0.743	T	0.60337	-0.7283	10	0.19590	T	0.45	-18.8197	19.4888	0.95042	0.0:0.0:1.0:0.0	.	356;396;393	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	I	394;320;396;356	ENSP00000442436:V396I	ENSP00000312530:V356I	V	+	1	0	C19orf2	35195039	1.000000	0.71417	0.996000	0.52242	0.384000	0.30261	9.148000	0.94652	2.607000	0.88179	0.585000	0.79938	GTT	URI1	-	NULL	ENSG00000105176		0.373	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URI1	HGNC	protein_coding	OTTHUMT00000439756.1	-	0.00	46	0	G	NM_134447		30503199	+1	tier1	-	no_errors	ENST00000542441	ensembl	human	known	74_37	missense	42.00	28	21	SNP	1.000	A
UROD	7389	genome.wustl.edu	37	1	45480557	45480557	+	Intron	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:45480557T>C	ENST00000246337.4	+	8	994				UROD_ENST00000494399.1_Intron	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase						heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					GGGTGTTGGCTGGGGGAGCTG	0.602									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													106.0	102.0	103.0					1																	45480557		2203	4300	6503	SO:0001627	intron_variant	0	Familial Cancer Database	PCT-II	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.875+49T>C	1.37:g.45480557T>C		931	A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	RNA	SNP	-	NULL	ENST00000246337.4	37	NULL	CCDS518.1	1																																																																																			UROD	-	-	ENSG00000126088		0.602	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROD	HGNC	protein_coding	OTTHUMT00000024803.1	-	0.00	58	0	T	NM_000374		45480557	+1	tier1	-	no_errors	ENST00000466193	ensembl	human	known	74_37	rna	38.60	33	22	SNP	0.004	C
USF2	7392	genome.wustl.edu	37	19	35770659	35770660	+	3'UTR	DEL	AA	AA	-	rs567969904|rs551671278	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:35770659_35770660delAA	ENST00000222305.3	+	0	1578_1579				USF2_ENST00000600341.1_3'UTR|USF2_ENST00000343550.5_3'UTR|HAMP_ENST00000222304.3_5'Flank|USF2_ENST00000595068.1_3'UTR|HAMP_ENST00000598398.1_5'Flank	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting						lactation (GO:0007595)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AAAAATTGACAAAAAAAAAATA	0.495																																					NSCLC(103;173 2832 8890)												0																																										SO:0001624	3_prime_UTR_variant	0			AY007087	CCDS12452.1, CCDS12453.1	19q13	2013-05-21				ENSG00000105698		"""Basic helix-loop-helix proteins"""	12594	protein-coding gene	gene with protein product		600390				8954795	Standard	NM_003367		Approved	FIP, bHLHb12	uc002nyq.1	Q15853		ENST00000222305.3:c.*501AA>-	19.37:g.35770667_35770668delAA			O00671|O00709|Q05750|Q07952|Q15851|Q15852|Q6FI33|Q6YI47	RNA	DEL	-	NULL	ENST00000222305.3	37	NULL	CCDS12452.1	19																																																																																			USF2	-	-	ENSG00000105698		0.495	USF2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	USF2	HGNC	protein_coding	OTTHUMT00000466056.1		0.00	38	0	AA	NM_003367		35770660	+1	tier1		no_errors	ENST00000600341	ensembl	human	known	74_37	rna	27.66	34	13	DEL	0.089:0.925	-
USHBP1	83878	genome.wustl.edu	37	19	17374897	17374898	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:17374897_17374898insT	ENST00000252597.3	-	3	289_290	c.116_117insA	c.(115-117)aagfs	p.K39fs	USHBP1_ENST00000431146.2_Intron|USHBP1_ENST00000598570.1_Intron	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CAAAGCTGGGCTTGGAGCTCCC	0.658																																																	0																																										SO:0001589	frameshift_variant	0			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.117dupA	19.37:g.17374899_17374899dupT	ENSP00000252597:p.Lys39fs			Frame_Shift_Ins	INS	pfam_USH1C-bd_PDZ_domain	p.P40fs	ENST00000252597.3	37	c.117_116	CCDS12353.1	19																																																																																			USHBP1	-	NULL	ENSG00000130307		0.658	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USHBP1	HGNC	protein_coding	OTTHUMT00000463328.1		0.00	73	0	-	NM_031941		17374898	-1	tier1		no_errors	ENST00000252597	ensembl	human	known	74_37	frame_shift_ins	26.98	46	17	INS	0.000:0.000	T
USP10	9100	genome.wustl.edu	37	16	84797822	84797822	+	Silent	SNP	G	G	A	rs376798108		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:84797822G>A	ENST00000219473.7	+	10	1898	c.1785G>A	c.(1783-1785)gcG>gcA	p.A595A	USP10_ENST00000570191.1_Silent_p.A599A	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	595	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CCCGCCAGGCGGATTTTGTTC	0.478																																																	0								G		1,3715		0,1,1857	90.0	92.0	91.0		1785	-11.2	0.1	16		91	0,8176		0,0,4088	no	coding-synonymous	USP10	NM_005153.2		0,1,5945	AA,AG,GG		0.0,0.0269,0.0084		595/799	84797822	1,11891	1858	4088	5946	SO:0001819	synonymous_variant	0			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1785G>A	16.37:g.84797822G>A			B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Silent	SNP	pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67	p.A599	ENST00000219473.7	37	c.1797	CCDS45537.1	16																																																																																			USP10	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000103194		0.478	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	USP10	HGNC	protein_coding	OTTHUMT00000433660.1	-	0.00	35	0	G			84797822	+1	tier1	-	no_errors	ENST00000570191	ensembl	human	known	74_37	silent	32.00	17	8	SNP	0.008	A
USP21	27005	genome.wustl.edu	37	1	161135370	161135370	+	3'UTR	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:161135370delT	ENST00000289865.8	+	0	2052				PPOX_ENST00000544598.1_5'Flank|PPOX_ENST00000432542.2_5'Flank|PPOX_ENST00000367999.4_5'Flank|PPOX_ENST00000352210.5_5'Flank|USP21_ENST00000493054.1_3'UTR|PPOX_ENST00000535223.1_5'Flank|USP21_ENST00000368001.1_3'UTR|USP21_ENST00000368002.3_3'UTR	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21						histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCTCCattattttttttatt	0.512																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.*133T>-	1.37:g.161135370delT			Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	RNA	DEL	-	NULL	ENST00000289865.8	37	NULL	CCDS30920.1	1																																																																																			USP21	-	-	ENSG00000143258		0.512	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	USP21	HGNC	protein_coding	OTTHUMT00000080801.1		0.00	49	0	T			161135370	+1	tier1		no_errors	ENST00000493054	ensembl	human	known	74_37	rna	32.89	51	25	DEL	1.000	-
USP27X	389856	genome.wustl.edu	37	X	49643278	49643278	+	5'Flank	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:49643278delC	ENST00000508866.2	+	0	0				USP27X-AS1_ENST00000437322.2_lincRNA	NM_001145073.1	NP_001138545.1	A6NNY8	UBP27_HUMAN	ubiquitin specific peptidase 27, X-linked						ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			endometrium(7)	7						GGTAGCCCGGCCCCCCCGGAG	0.692																																																	0																																										SO:0001631	upstream_gene_variant	0			AW851065	CCDS65260.1	Xp11.23	2007-10-05	2005-08-08			ENSG00000273820		"""Ubiquitin-specific peptidases"""	13486	protein-coding gene	gene with protein product			"""ubiquitin specific protease 27, X chromosome"", ""ubiquitin specific protease 27, X-linked"""			12838346	Standard	NM_001145073		Approved	USP27	uc004dop.3	A6NNY8			X.37:g.49643278delC	Exception_encountered			RNA	DEL	-	NULL	ENST00000508866.2	37	NULL		X																																																																																			USP27X-AS1	-	-	ENSG00000234390		0.692	USP27X-001	KNOWN	basic|appris_principal	protein_coding	USP27X-AS1	HGNC	protein_coding	OTTHUMT00000060837.3		0.00	8	0	C	XM_372213		49643278	-1	tier1		no_errors	ENST00000437322	ensembl	human	known	74_37	rna	93.75	1	15	DEL	0.000	-
USP29	57663	genome.wustl.edu	37	19	57640238	57640239	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:57640238_57640239insA	ENST00000254181.4	+	4	649_650	c.195_196insA	c.(196-198)aaafs	p.K66fs	USP29_ENST00000598197.1_Frame_Shift_Ins_p.K66fs	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	66					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.R68fs*7(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAGACATTGTAAAAAAAGACA	0.327																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.202dupA	19.37:g.57640245_57640245dupA	ENSP00000254181:p.Lys66fs			Frame_Shift_Ins	INS	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R67fs	ENST00000254181.4	37	c.195_196	CCDS33124.1	19																																																																																			USP29	-	NULL	ENSG00000131864		0.327	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP29	HGNC	protein_coding	OTTHUMT00000465075.1		0.00	27	0	-			57640239	+1	tier1		no_errors	ENST00000254181	ensembl	human	known	74_37	frame_shift_ins	40.48	25	17	INS	0.000:0.000	A
USP31	57478	genome.wustl.edu	37	16	23085053	23085053	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:23085053G>T	ENST00000219689.7	-	14	2324	c.2325C>A	c.(2323-2325)agC>agA	p.S775R	USP31_ENST00000567975.1_5'Flank	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	739	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTGCCACCGAGCTGTTGGCTG	0.532																																																	0													87.0	77.0	81.0					16																	23085053		2197	4300	6497	SO:0001583	missense	0			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.2325C>A	16.37:g.23085053G>T	ENSP00000219689:p.Ser775Arg		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.S775R	ENST00000219689.7	37	c.2325	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995102	0.74703	.	.	ENSG00000103404	ENST00000219689;ENST00000381162	T	0.10573	2.86	5.91	4.96	0.65561	.	0.166986	0.51477	D	0.000097	T	0.31638	0.0803	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.99	T	0.04255	-1.0965	10	0.72032	D	0.01	-15.437	11.906	0.52713	0.1429:0.0:0.8571:0.0	.	78;775	Q70CQ4-2;Q70CQ4	.;UBP31_HUMAN	R	775;78	ENSP00000219689:S775R	ENSP00000219689:S775R	S	-	3	2	USP31	22992554	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.180000	0.50895	1.503000	0.48686	0.655000	0.94253	AGC	USP31	-	NULL	ENSG00000103404		0.532	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	-	0.00	33	0	G	NM_020718		23085053	-1	tier1	-	no_errors	ENST00000219689	ensembl	human	known	74_37	missense	13.04	20	3	SNP	1.000	T
USP32P2	220594	genome.wustl.edu	37	17	18415649	18415649	+	RNA	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:18415649G>T	ENST00000425211.1	-	0	3620				USP32P2_ENST00000412260.1_RNA																							TTTTTAAAGTGCAAAACAAAC	0.408																																																	0																																												0																															17.37:g.18415649G>T				RNA	SNP	-	NULL	ENST00000425211.1	37	NULL		17																																																																																			USP32P2	-	-	ENSG00000233327		0.408	CTD-2303H24.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	USP32P2	HGNC	processed_transcript	OTTHUMT00000473021.1	-	0.00	55	0	G			18415649	-1	tier1	-	no_errors	ENST00000412260	ensembl	human	known	74_37	rna	10.00	45	5	SNP	0.074	T
USP34	9736	genome.wustl.edu	37	2	61438924	61438924	+	Silent	SNP	G	G	A	rs373843965		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:61438924G>A	ENST00000398571.2	-	69	8899	c.8823C>T	c.(8821-8823)tgC>tgT	p.C2941C	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2941					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AAGTAGTCCAGCAGGAGCGGC	0.338																																																	0													86.0	80.0	82.0					2																	61438924		1860	4097	5957	SO:0001819	synonymous_variant	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8823C>T	2.37:g.61438924G>A			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.C2941	ENST00000398571.2	37	c.8823	CCDS42686.1	2																																																																																			USP34	-	superfamily_ARM-type_fold	ENSG00000115464		0.338	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	-	0.00	48	0	G			61438924	-1	tier1	-	no_errors	ENST00000398571	ensembl	human	known	74_37	silent	40.62	38	26	SNP	1.000	A
USP36	57602	genome.wustl.edu	37	17	76799558	76799558	+	Missense_Mutation	SNP	C	C	T	rs200106890		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:76799558C>T	ENST00000542802.3	-	16	3162	c.2719G>A	c.(2719-2721)Ggc>Agc	p.G907S	USP36_ENST00000449938.2_Missense_Mutation_p.G512S|USP36_ENST00000312010.6_Missense_Mutation_p.G907S			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	907					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GCGTGGTGGCCGTCCGTAACA	0.632																																																	0								C	SER/GLY	0,4406		0,0,2203	110.0	94.0	99.0		2719	-1.6	0.0	17		99	2,8598	2.2+/-6.3	0,2,4298	no	missense	USP36	NM_025090.3	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	907/1124	76799558	2,13004	2203	4300	6503	SO:0001583	missense	0			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2719G>A	17.37:g.76799558C>T	ENSP00000441214:p.Gly907Ser		Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.G907S	ENST00000542802.3	37	c.2719	CCDS32755.1	17	.	.	.	.	.	.	.	.	.	.	C	9.179	1.023126	0.19433	0.0	2.33E-4	ENSG00000055483	ENST00000312010;ENST00000449938;ENST00000542802	T;T;T	0.14640	3.45;2.49;3.45	4.95	-1.65	0.08291	.	1.174600	0.05899	N	0.629580	T	0.05640	0.0148	N	0.04090	-0.28	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.06405	0.001;0.002	T	0.42015	-0.9476	10	0.08599	T	0.76	-7.3372	8.5363	0.33366	0.0:0.4453:0.0:0.5547	.	907;907	Q9P275;Q9P275-2	UBP36_HUMAN;.	S	907;512;907	ENSP00000310590:G907S;ENSP00000401119:G512S;ENSP00000441214:G907S	ENSP00000310590:G907S	G	-	1	0	USP36	74311153	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.714000	0.05002	-0.609000	0.05724	-0.812000	0.03155	GGC	USP36	-	NULL	ENSG00000055483		0.632	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	HGNC	protein_coding	OTTHUMT00000437472.3	-	0.00	77	0	C	NM_025090		76799558	-1	tier1	rs200106890	no_errors	ENST00000312010	ensembl	human	known	74_37	missense	37.50	30	18	SNP	0.000	T
USP37	57695	genome.wustl.edu	37	2	219344406	219344406	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:219344406T>C	ENST00000258399.3	-	18	2280	c.1868A>G	c.(1867-1869)aAt>aGt	p.N623S	USP37_ENST00000475553.1_5'UTR|USP37_ENST00000415516.1_Intron|USP37_ENST00000454775.1_Missense_Mutation_p.N623S|USP37_ENST00000418019.1_Missense_Mutation_p.N623S	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	623	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GATGCAGGAATTCACCATTTG	0.299																																																	0													76.0	71.0	73.0					2																	219344406		2203	4300	6503	SO:0001583	missense	0			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.1868A>G	2.37:g.219344406T>C	ENSP00000258399:p.Asn623Ser		A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67	p.N623S	ENST00000258399.3	37	c.1868	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	T	13.35	2.211375	0.39102	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000418019	T;T;T	0.44482	0.92;0.92;0.92	5.71	5.71	0.89125	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.095014	0.64402	D	0.000001	T	0.45895	0.1365	L	0.31664	0.95	0.80722	D	1	D	0.63046	0.992	P	0.61722	0.893	T	0.25467	-1.0131	10	0.09843	T	0.71	-26.2202	14.5549	0.68094	0.0:0.0:0.0:1.0	.	623	Q86T82	UBP37_HUMAN	S	623	ENSP00000258399:N623S;ENSP00000393662:N623S;ENSP00000396585:N623S	ENSP00000258399:N623S	N	-	2	0	USP37	219052650	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.166000	0.64965	2.178000	0.69098	0.533000	0.62120	AAT	USP37	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000135913		0.299	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	HGNC	protein_coding	OTTHUMT00000256779.3	-	0.00	26	0	T	NM_020935		219344406	-1	tier1	-	no_errors	ENST00000258399	ensembl	human	known	74_37	missense	34.21	25	13	SNP	1.000	C
USP40	55230	genome.wustl.edu	37	2	234474223	234474223	+	5'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:234474223delA	ENST00000427112.2	-	0	13				USP40_ENST00000251722.6_Intron|USP40_ENST00000450966.1_Frame_Shift_Del_p.L5fs|USP40_ENST00000443711.2_Intron			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40						ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TACTACCCTTAAAAAAAGTGA	0.338																																																	0													57.0	44.0	48.0					2																	234474223		692	1590	2282	SO:0001623	5_prime_UTR_variant	0			AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.-23T>-	2.37:g.234474223delA			Q6NX38|Q70EL0	Frame_Shift_Del	DEL	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.L5fs	ENST00000427112.2	37	c.14	CCDS46547.1	2																																																																																			USP40	-	NULL	ENSG00000085982		0.338	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	USP40	HGNC	protein_coding	OTTHUMT00000397235.1		0.00	20	0	A	XM_114294		234474223	-1	tier1		no_errors	ENST00000450966	ensembl	human	known	74_37	frame_shift_del	40.00	6	4	DEL	0.901	-
USP47	55031	genome.wustl.edu	37	11	11969622	11969622	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:11969622C>T	ENST00000399455.2	+	22	3402	c.3282C>T	c.(3280-3282)agC>agT	p.S1094S	USP47_ENST00000527733.1_Silent_p.S1074S|USP47_ENST00000539466.1_5'UTR|USP47_ENST00000339865.5_Silent_p.S1006S	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1094					base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AGTTTGAGAGCGTCCGGCTGA	0.383																																																	0													145.0	132.0	136.0					11																	11969622		1839	4096	5935	SO:0001819	synonymous_variant	0			AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3282C>T	11.37:g.11969622C>T			B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.S1094	ENST00000399455.2	37	c.3282		11																																																																																			USP47	-	NULL	ENSG00000170242		0.383	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	USP47	HGNC	protein_coding	OTTHUMT00000385853.2	-	0.00	24	0	C	NM_017944		11969622	+1	tier1	-	no_errors	ENST00000399455	ensembl	human	known	74_37	silent	41.67	28	20	SNP	1.000	T
USP48	84196	genome.wustl.edu	37	1	22033386	22033387	+	Intron	DEL	AA	AA	-	rs532575338		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:22033386_22033387delAA	ENST00000308271.9	-	16	2612				USP48_ENST00000529637.1_Frame_Shift_Del_p.S659fs|USP48_ENST00000374732.3_Intron|USP48_ENST00000400301.1_Intron	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48						ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		ATATATTTGGAAAAAAAAAAAA	0.317																																																	0																																										SO:0001627	intron_variant	0			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1964-25TT>-	1.37:g.22033396_22033397delAA			B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Frame_Shift_Del	DEL	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup	p.S659fs	ENST00000308271.9	37	c.1975_1974	CCDS30623.1	1																																																																																			USP48	-	NULL	ENSG00000090686		0.317	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1		0.00	22	0	AA	NM_032236		22033387	-1	tier1		no_errors	ENST00000529637	ensembl	human	novel	74_37	frame_shift_del	26.92	19	7	DEL	0.000:0.000	-
USP48	84196	genome.wustl.edu	37	1	22016515	22016515	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:22016515G>T	ENST00000308271.9	-	24	3609	c.2961C>A	c.(2959-2961)gcC>gcA	p.A987A	USP48_ENST00000400301.1_Silent_p.A935A|USP48_ENST00000374732.3_Silent_p.A473A|USP48_ENST00000529637.1_Silent_p.A999A	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	987	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TGCCTAGGGTGGCACAGTCAT	0.383																																																	0													100.0	96.0	97.0					1																	22016515		2203	4300	6503	SO:0001819	synonymous_variant	0			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2961C>A	1.37:g.22016515G>T			B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup	p.A987	ENST00000308271.9	37	c.2961	CCDS30623.1	1																																																																																			USP48	-	pfscan_Ubiquitin_supergroup	ENSG00000090686		0.383	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1		0.00	34	0	G	NM_032236		22016515	-1			no_errors	ENST00000308271	ensembl	human	known	74_37	silent	9.38	29	3	SNP	0.998	T
USP7	7874	genome.wustl.edu	37	16	9017259	9017259	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:9017259G>A	ENST00000344836.4	-	3	394	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	USP7_ENST00000381886.4_Missense_Mutation_p.R50C|USP7_ENST00000535863.1_5'UTR|USP7_ENST00000566224.1_5'UTR	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	66	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GCCTCGGAGCGCCAACTGGTG	0.478																																																	0													59.0	52.0	54.0					16																	9017259		2197	4300	6497	SO:0001583	missense	0			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.196C>T	16.37:g.9017259G>A	ENSP00000343535:p.Arg66Cys		A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67	p.R66C	ENST00000344836.4	37	c.196	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031650	0.75504	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000542333	T;T	0.07688	3.17;3.18	5.25	5.25	0.73442	TRAF-like (1);	0.093180	0.64402	D	0.000001	T	0.29749	0.0743	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.65443	0.884;0.935	T	0.01591	-1.1317	10	0.59425	D	0.04	.	14.1213	0.65189	0.0:0.0:0.8498:0.1502	.	66;50	Q93009;B7Z815	UBP7_HUMAN;.	C	66;74;8	ENSP00000343535:R66C;ENSP00000439272:R8C	ENSP00000343535:R66C	R	-	1	0	USP7	8924760	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.558000	0.60789	2.626000	0.88956	0.655000	0.94253	CGC	USP7	-	superfamily_TRAF-like	ENSG00000187555		0.478	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2	-	0.00	41	0	G			9017259	-1	tier1	-	no_errors	ENST00000344836	ensembl	human	known	74_37	missense	38.46	16	10	SNP	1.000	A
USP9X	8239	genome.wustl.edu	37	X	41029818	41029818	+	Silent	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:41029818T>C	ENST00000324545.8	+	20	3606	c.2973T>C	c.(2971-2973)ggT>ggC	p.G991G	USP9X_ENST00000378308.2_Silent_p.G991G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	991					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAAACCATGGTAATCATTACA	0.428																																					Ovarian(172;1807 2695 35459 49286)												0													87.0	81.0	83.0					X																	41029818		2161	4279	6440	SO:0001819	synonymous_variant	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2973T>C	X.37:g.41029818T>C			O75550|Q8WWT3|Q8WX12	Silent	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67	p.G991	ENST00000324545.8	37	c.2973	CCDS43930.1	X																																																																																			USP9X	-	NULL	ENSG00000124486		0.428	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	-	0.00	59	0	T	NM_004652		41029818	+1	tier1	-	no_errors	ENST00000324545	ensembl	human	known	74_37	silent	83.87	10	52	SNP	0.969	C
USP9Y	8287	genome.wustl.edu	37	Y	14968773	14968776	+	Intron	DEL	AAAA	AAAA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrY:14968773_14968776delAAAA	ENST00000338981.3	+	44	8379				USP9Y_ENST00000426564.2_Intron	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked						BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGAAGAGGTAAAAAAAAAAAAGG	0.333																																																	0																																										SO:0001627	intron_variant	0			Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.7434+3AAAA>-	Y.37:g.14968781_14968784delAAAA			O14601	RNA	DEL	-	NULL	ENST00000338981.3	37	NULL	CCDS14781.1	Y																																																																																			USP9Y	-	-	ENSG00000114374		0.333	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP9Y	HGNC	protein_coding	OTTHUMT00000088703.2		0.00	25	0	AAAA	NM_004654		14968776	+1	tier1		no_errors	ENST00000471409	ensembl	human	known	74_37	rna	81.82	4	18	DEL	0.995:0.996:0.998:1.000	-
UTP18	51096	genome.wustl.edu	37	17	49338044	49338044	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:49338044delG	ENST00000225298.7	+	1	156	c.99delG	c.(97-99)gcgfs	p.A33fs	MBTD1_ENST00000586178.1_5'Flank|MBTD1_ENST00000376381.2_5'Flank	NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	33					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			AAGCCGGAGCGGGGCCAGGCG	0.721																																																	0													8.0	11.0	10.0					17																	49338044		1796	4049	5845	SO:0001589	frameshift_variant	0			AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.99delG	17.37:g.49338044delG	ENSP00000225298:p.Ala33fs		Q9H4N6	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P35fs	ENST00000225298.7	37	c.99	CCDS42362.1	17																																																																																			UTP18	-	NULL	ENSG00000011260		0.721	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP18	HGNC	protein_coding	OTTHUMT00000368654.1		0.00	32	0	G	NM_016001		49338044	+1	tier1		no_errors	ENST00000225298	ensembl	human	known	74_37	frame_shift_del	41.38	17	12	DEL	0.002	-
UTP20	27340	genome.wustl.edu	37	12	101680157	101680157	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:101680157delT	ENST00000261637.4	+	5	559	c.385delT	c.(385-387)tttfs	p.F130fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	130					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CTTTCCAGAGTTTTTTTTGAC	0.398																																																	0													226.0	224.0	224.0					12																	101680157		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.385delT	12.37:g.101680157delT	ENSP00000261637:p.Phe130fs		Q9H3H4	Frame_Shift_Del	DEL	pfam_DRIM,superfamily_ARM-type_fold	p.L131fs	ENST00000261637.4	37	c.385	CCDS9081.1	12																																																																																			UTP20	-	superfamily_ARM-type_fold	ENSG00000120800		0.398	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1		0.00	50	0	T	NM_014503		101680157	+1	tier1		no_errors	ENST00000261637	ensembl	human	known	74_37	frame_shift_del	32.56	29	14	DEL	1.000	-
UTP20	27340	genome.wustl.edu	37	12	101739437	101739437	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:101739437G>T	ENST00000261637.4	+	37	4885	c.4711G>T	c.(4711-4713)Gaa>Taa	p.E1571*		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1571					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CCATGACCCAGAAATGGACTT	0.368																																																	0													102.0	95.0	98.0					12																	101739437		2203	4300	6503	SO:0001587	stop_gained	0			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.4711G>T	12.37:g.101739437G>T	ENSP00000261637:p.Glu1571*		Q9H3H4	Nonsense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.E1571*	ENST00000261637.4	37	c.4711	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	46	12.755164	0.99693	.	.	ENSG00000120800	ENST00000261637	.	.	.	5.91	5.02	0.67125	.	0.094319	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-14.7265	14.9237	0.70859	0.0682:0.0:0.9318:0.0	.	.	.	.	X	1571	.	ENSP00000261637:E1571X	E	+	1	0	UTP20	100263568	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.717000	0.98755	1.514000	0.48869	0.650000	0.86243	GAA	UTP20	-	superfamily_ARM-type_fold	ENSG00000120800		0.368	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1		0.00	35	0	G	NM_014503		101739437	+1			no_errors	ENST00000261637	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	1.000	T
VANGL1	81839	genome.wustl.edu	37	1	116226673	116226673	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:116226673G>A	ENST00000355485.2	+	6	1326	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q	VANGL1_ENST00000369510.4_Missense_Mutation_p.R350Q|VANGL1_ENST00000310260.3_Missense_Mutation_p.R352Q|VANGL1_ENST00000474344.1_3'UTR|VANGL1_ENST00000369509.1_Missense_Mutation_p.R352Q	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	352					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GAACATGAACGGCGAGTAAAG	0.443																																																	0													76.0	69.0	71.0					1																	116226673		2203	4300	6503	SO:0001583	missense	0			AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.1055G>A	1.37:g.116226673G>A	ENSP00000347672:p.Arg352Gln		Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	pfam_Strabismus,pirsf_Strabismus	p.R352Q	ENST00000355485.2	37	c.1055	CCDS883.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232146	0.79688	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.90741	0.7094	M	0.89601	3.045	0.80722	D	1	P;D	0.53151	0.948;0.958	P;P	0.49502	0.479;0.613	D	0.92957	0.6385	10	0.87932	D	0	-14.5438	17.6175	0.88071	0.0:0.0:1.0:0.0	.	350;352	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	Q	352;350;352;352	ENSP00000347672:R352Q;ENSP00000358523:R350Q;ENSP00000310800:R352Q;ENSP00000358522:R352Q	ENSP00000310800:R352Q	R	+	2	0	VANGL1	116028196	1.000000	0.71417	0.926000	0.36857	0.116000	0.19942	9.192000	0.94947	2.366000	0.80165	0.551000	0.68910	CGG	VANGL1	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000173218		0.443	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VANGL1	HGNC	protein_coding	OTTHUMT00000033096.1	-	0.00	52	0	G			116226673	+1	tier1	-	no_errors	ENST00000310260	ensembl	human	known	74_37	missense	35.29	22	12	SNP	0.998	A
VAX1	11023	genome.wustl.edu	37	10	118893539	118893539	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:118893539C>T	ENST00000369206.5	-	3	984	c.985G>A	c.(985-987)Gag>Aag	p.E329K	VAX1_ENST00000277905.2_Intron	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	329					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		GCTTTTTTCTCGGCCCCTTCT	0.473																																																	0													23.0	21.0	22.0					10																	118893539		692	1591	2283	SO:0001583	missense	0			AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.985G>A	10.37:g.118893539C>T	ENSP00000358207:p.Glu329Lys		B1AVW5|Q6ZSX0	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif	p.E329K	ENST00000369206.5	37	c.985	CCDS44483.1	10	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664438	0.47572	.	.	ENSG00000148704	ENST00000369206	D	0.92647	-3.08	4.22	4.22	0.49857	.	0.059568	0.64402	D	0.000003	D	0.84133	0.5405	L	0.36672	1.1	0.48341	D	0.99963	P	0.47545	0.897	B	0.29663	0.105	D	0.84072	0.0380	10	0.17832	T	0.49	-18.7432	16.7746	0.85548	0.0:1.0:0.0:0.0	.	329	Q5SQQ9	VAX1_HUMAN	K	329	ENSP00000358207:E329K	ENSP00000358207:E329K	E	-	1	0	VAX1	118883529	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.511000	0.73733	2.169000	0.68431	0.313000	0.20887	GAG	VAX1	-	NULL	ENSG00000148704		0.473	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VAX1	HGNC	protein_coding	OTTHUMT00000050559.3	-	0.00	54	0	C	XM_301242		118893539	-1	tier1	-	no_errors	ENST00000369206	ensembl	human	known	74_37	missense	48.15	28	26	SNP	1.000	T
VCAN	1462	genome.wustl.edu	37	5	82786221	82786221	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:82786221G>A	ENST00000265077.3	+	3	940	c.375G>A	c.(373-375)gcG>gcA	p.A125A	VCAN_ENST00000512590.2_Silent_p.A77A|VCAN_ENST00000502527.2_Silent_p.A125A|VCAN_ENST00000343200.5_Silent_p.A125A|VCAN_ENST00000513984.1_Silent_p.A125A|VCAN_ENST00000342785.4_Silent_p.A125A	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	125	Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CAAGTGATGCGGGTCTTTACC	0.527																																																	0													146.0	140.0	142.0					5																	82786221		2203	4300	6503	SO:0001819	synonymous_variant	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.375G>A	5.37:g.82786221G>A			P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.A125	ENST00000265077.3	37	c.375	CCDS4060.1	5																																																																																			VCAN	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000038427		0.527	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0.00	30	0	G	NM_004385		82786221	+1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	silent	40.62	19	13	SNP	0.068	A
VEPH1	79674	genome.wustl.edu	37	3	157081227	157081227	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:157081227delT	ENST00000362010.2	-	9	1968	c.1661delA	c.(1660-1662)aacfs	p.N554fs	VEPH1_ENST00000392832.2_Frame_Shift_Del_p.N554fs|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392833.2_Frame_Shift_Del_p.N554fs|VEPH1_ENST00000543418.1_Frame_Shift_Del_p.N554fs	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	554						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTTGCTGAGGTTTTTTTTTAA	0.393																																																	0									,,	0,2,4264		0,0,0,0,2,2131	156.0	159.0	158.0		,,	1.2	1.0	3		159	2,3,8247		0,0,2,1,1,4122	no	codingComplex,codingComplex,codingComplex	VEPH1	NM_024621.2,NM_001167912.1,NM_001167911.1	,,	0,0,2,1,3,6253	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0606,0.0469,0.0559	,,	,,	157081227	2,5,12511	2203	4300	6503	SO:0001589	frameshift_variant	0			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1661delA	3.37:g.157081227delT	ENSP00000354919:p.Asn554fs		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Frame_Shift_Del	DEL	pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.N554fs	ENST00000362010.2	37	c.1661	CCDS3179.1	3																																																																																			VEPH1	-	NULL	ENSG00000197415		0.393	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	HGNC	protein_coding	OTTHUMT00000351845.3		0.00	53	0	T	NM_024621		157081227	-1	tier1		no_errors	ENST00000362010	ensembl	human	known	74_37	frame_shift_del	34.88	28	15	DEL	1.000	-
VILL	50853	genome.wustl.edu	37	3	38040859	38040859	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:38040859G>T	ENST00000283713.6	+	11	1377	c.1111G>T	c.(1111-1113)Ggc>Tgc	p.G371C	VILL_ENST00000465644.1_Missense_Mutation_p.G89C|VILL_ENST00000383759.2_Missense_Mutation_p.G371C			O15195	VILL_HUMAN	villin-like	371					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)		GCTGGACGTGGGCAAGCTGCA	0.627																																																	0													109.0	91.0	97.0					3																	38040859		2203	4300	6503	SO:0001583	missense	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.1111G>T	3.37:g.38040859G>T	ENSP00000283713:p.Gly371Cys		A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin	p.G371C	ENST00000283713.6	37	c.1111	CCDS2670.2	3	.	.	.	.	.	.	.	.	.	.	G	33	5.235972	0.95240	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.32272	1.46;1.46;1.46	4.35	2.53	0.30540	.	0.596299	0.18970	N	0.126152	T	0.36635	0.0974	M	0.68317	2.08	0.31714	N	0.639133	D;P	0.58620	0.983;0.836	P;P	0.51550	0.673;0.474	T	0.47898	-0.9081	10	0.62326	D	0.03	-6.8182	4.9212	0.13871	0.386:0.0:0.614:0.0	.	357;371	O15195-2;O15195	.;VILL_HUMAN	C	371;371;357;89	ENSP00000283713:G371C;ENSP00000373266:G371C;ENSP00000422096:G89C	ENSP00000283713:G371C	G	+	1	0	VILL	38015863	0.967000	0.33354	0.016000	0.15963	0.881000	0.50899	3.548000	0.53670	1.178000	0.42870	0.650000	0.86243	GGC	VILL	-	NULL	ENSG00000136059		0.627	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VILL	HGNC	protein_coding	OTTHUMT00000253360.3	-	0.00	50	0	G	NM_015873		38040859	+1	tier1	-	no_errors	ENST00000283713	ensembl	human	known	74_37	missense	30.00	14	6	SNP	0.938	T
VPS13C	54832	genome.wustl.edu	37	15	62244050	62244050	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:62244050delT	ENST00000261517.5	-	39	4502	c.4429delA	c.(4429-4431)attfs	p.I1477fs	VPS13C_ENST00000395898.3_Frame_Shift_Del_p.I1434fs|VPS13C_ENST00000249837.3_Frame_Shift_Del_p.I1434fs|VPS13C_ENST00000395896.4_Frame_Shift_Del_p.I1477fs	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGCATACTAATTTTTTTTAGA	0.333																																																	0													121.0	124.0	123.0					15																	62244050		2202	4300	6502	SO:0001589	frameshift_variant	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.4429delA	15.37:g.62244050delT	ENSP00000261517:p.Ile1477fs			Frame_Shift_Del	DEL	pfam_VPSAP_dom,pfam_Autophagy-rel_C	p.I1477fs	ENST00000261517.5	37	c.4429	CCDS32257.1	15																																																																																			VPS13C	-	NULL	ENSG00000129003		0.333	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1		0.00	52	0	T	NM_017684		62244050	-1			no_errors	ENST00000261517	ensembl	human	known	74_37	frame_shift_del	6.78	55	4	DEL	0.829	0
VPS13D	55187	genome.wustl.edu	37	1	12387744	12387744	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:12387744C>T	ENST00000358136.3	+	36	8160	c.8030C>T	c.(8029-8031)gCg>gTg	p.A2677V	VPS13D_ENST00000356315.4_Missense_Mutation_p.A2677V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTTAAGAATGCGGAACCTCTG	0.502																																																	0													175.0	182.0	180.0					1																	12387744		2203	4300	6503	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.8030C>T	1.37:g.12387744C>T	ENSP00000350854:p.Ala2677Val			Missense_Mutation	SNP	pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.A2677V	ENST00000358136.3	37	c.8030	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.714859|5.714859	0.96830|0.96830	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.40756|.	1.02;1.02|.	5.81|5.81	5.81|5.81	0.92471|0.92471	UBA-like (1);|.	0.270105|.	0.37136|.	N|.	0.002232|.	T|T	0.78039|0.78039	0.4221|0.4221	M|M	0.76328|0.76328	2.33|2.33	0.80722|0.80722	D|D	1|1	D;P;D|.	0.89917|.	1.0;0.878;0.963|.	D;P;P|.	0.80764|.	0.994;0.53;0.603|.	T|T	0.76260|0.76260	-0.3024|-0.3024	10|5	0.34782|.	T|.	0.22|.	.|.	20.0621|20.0621	0.97678|0.97678	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	584;2677;2677|.	B1AJZ2;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	V|W	2677|1500	ENSP00000348666:A2677V;ENSP00000350854:A2677V|.	ENSP00000348666:A2677V|.	A|R	+|+	2|1	0|2	VPS13D|VPS13D	12310331|12310331	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.991000|0.991000	0.79684|0.79684	7.445000|7.445000	0.80570|0.80570	2.750000|2.750000	0.94351|0.94351	0.655000|0.655000	0.94253|0.94253	GCG|CGG	VPS13D	-	superfamily_UBA-like	ENSG00000048707		0.502	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	-	0.00	72	0	C	NM_015378		12387744	+1	tier1	-	no_errors	ENST00000358136	ensembl	human	known	74_37	missense	37.04	68	40	SNP	1.000	T
VPS36	51028	genome.wustl.edu	37	13	52999941	52999942	+	Intron	INS	-	-	A	rs373315037|rs371686906		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:52999941_52999942insA	ENST00000378060.4	-	9	802					NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)						endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		ATACCTGAAAGAAAAAAAAAAC	0.233																																																	0																																										SO:0001627	intron_variant	0			AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.774+124->T	13.37:g.52999951_52999951dupA			A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	RNA	INS	-	NULL	ENST00000378060.4	37	NULL	CCDS9434.1	13																																																																																			VPS36	-	-	ENSG00000136100		0.233	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS36	HGNC	protein_coding	OTTHUMT00000045059.3		0.00	13	0	-			52999942	-1	tier1		no_errors	ENST00000492650	ensembl	human	known	74_37	rna	35.00	13	7	INS	0.003:0.001	A
VPS39	23339	genome.wustl.edu	37	15	42479523	42479523	+	Silent	SNP	C	C	T	rs149434119		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:42479523C>T	ENST00000348544.4	-	8	512	c.513G>A	c.(511-513)gcG>gcA	p.A171A	VPS39_ENST00000318006.5_Silent_p.A160A			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	171	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TTTCACACCACGCCATGGACT	0.353																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	82.0	81.0	81.0		480	-2.7	1.0	15	dbSNP_134	81	0,8598		0,0,4299	no	coding-synonymous	VPS39	NM_015289.2		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		160/876	42479523	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.513G>A	15.37:g.42479523C>T			O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Silent	SNP	pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.A171	ENST00000348544.4	37	c.513	CCDS10083.1	15																																																																																			VPS39	-	pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron	ENSG00000166887		0.353	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	HGNC	protein_coding	OTTHUMT00000420472.1	-	0.00	35	0	C	NM_015289		42479523	-1	tier1	rs149434119	no_errors	ENST00000348544	ensembl	human	known	74_37	silent	37.84	23	14	SNP	0.399	T
VRK2	7444	genome.wustl.edu	37	2	58373508	58373509	+	Frame_Shift_Ins	INS	-	-	A	rs139700760		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:58373508_58373509insA	ENST00000435505.2	+	15	1826_1827	c.1081_1082insA	c.(1081-1083)gaafs	p.E361fs	VRK2_ENST00000412104.2_Frame_Shift_Ins_p.E361fs|VRK2_ENST00000440705.2_Frame_Shift_Ins_p.E338fs|VRK2_ENST00000340157.4_Frame_Shift_Ins_p.E361fs|VRK2_ENST00000417641.2_Frame_Shift_Ins_p.E361fs			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	361					cellular response to oxidative stress (GO:0034599)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interleukin-1-mediated signaling pathway (GO:2000659)|regulation of MAPK cascade (GO:0043408)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TAGGTTAATCGAAAAAAAAGTC	0.386																																																	0																																										SO:0001589	frameshift_variant	0			AK058199	CCDS1859.1, CCDS46291.1, CCDS46292.1	2p16.1	2008-05-15			ENSG00000028116	ENSG00000028116			12719	protein-coding gene	gene with protein product		602169					Standard	NM_001130480		Approved		uc002rzv.3	Q86Y07	OTTHUMG00000129348	ENST00000435505.2:c.1089dupA	2.37:g.58373516_58373516dupA	ENSP00000408002:p.Glu361fs		B4DKL0|D6W5D4|D6W5D6|Q49AK9|Q53EU9|Q53S39|Q53S77|Q53TU1|Q86Y08|Q86Y09|Q86Y10|Q86Y11|Q86Y12|Q8IXI5|Q99987	Frame_Shift_Ins	INS	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.V364fs	ENST00000435505.2	37	c.1081_1082	CCDS1859.1	2																																																																																			VRK2	-	NULL	ENSG00000028116		0.386	VRK2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VRK2	HGNC	protein_coding	OTTHUMT00000325304.2		0.00	21	0	-	NM_006296		58373509	+1	tier1		no_errors	ENST00000340157	ensembl	human	known	74_37	frame_shift_ins	37.04	17	10	INS	0.001:0.000	A
VSIG10	54621	genome.wustl.edu	37	12	118517261	118517261	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:118517261A>C	ENST00000359236.5	-	4	1091	c.815T>G	c.(814-816)cTg>cGg	p.L272R	VSIG10_ENST00000536905.1_5'Flank	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	272	Ig-like C2-type 3.					integral component of membrane (GO:0016021)				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TTCCACCCCCAGCTTTGACTT	0.557																																																	0													111.0	116.0	114.0					12																	118517261		2051	4208	6259	SO:0001583	missense	0				CCDS44992.1	12q24.23	2013-01-29			ENSG00000176834	ENSG00000176834		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26078	protein-coding gene	gene with protein product						12477932	Standard	NM_019086		Approved		uc001tws.3	Q8N0Z9		ENST00000359236.5:c.815T>G	12.37:g.118517261A>C	ENSP00000352172:p.Leu272Arg		Q9NWQ7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.L272R	ENST00000359236.5	37	c.815	CCDS44992.1	12	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564821	0.65651	.	.	ENSG00000176834	ENST00000359236;ENST00000538357	T;T	0.15139	2.45;2.45	5.61	5.61	0.85477	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36444	N	0.002592	T	0.20007	0.0481	M	0.78637	2.42	0.32534	N	0.5346	P	0.36789	0.57	B	0.35607	0.206	T	0.18147	-1.0346	10	0.14252	T	0.57	-20.773	10.3487	0.43922	0.9277:0.0:0.0722:0.0	.	272	Q8N0Z9	VSI10_HUMAN	R	272;171	ENSP00000352172:L272R;ENSP00000442861:L171R	ENSP00000352172:L272R	L	-	2	0	VSIG10	117001644	1.000000	0.71417	0.947000	0.38551	0.947000	0.59692	3.331000	0.52075	2.367000	0.80283	0.529000	0.55759	CTG	VSIG10	-	pfscan_Ig-like_dom	ENSG00000176834		0.557	VSIG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG10	HGNC	protein_coding	OTTHUMT00000401273.2	-	0.00	41	0	A	NM_019086		118517261	-1	tier1	-	no_errors	ENST00000359236	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.892	C
VSIG4	11326	genome.wustl.edu	37	X	65244881	65244881	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:65244881T>C	ENST00000374737.4	-	6	1034	c.926A>G	c.(925-927)aAg>aGg	p.K309R	VSIG4_ENST00000455586.2_Missense_Mutation_p.K309R|VSIG4_ENST00000412866.2_Missense_Mutation_p.K215R	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	309					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTGGGATGTCTTCCGACAGAG	0.438																																																	0													114.0	80.0	92.0					X																	65244881		2203	4300	6503	SO:0001583	missense	0			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.926A>G	X.37:g.65244881T>C	ENSP00000363869:p.Lys309Arg		Q6UXI4	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom	p.K309R	ENST00000374737.4	37	c.926	CCDS14383.1	X	.	.	.	.	.	.	.	.	.	.	T	0.017	-1.490236	0.01018	.	.	ENSG00000155659	ENST00000374737;ENST00000455586;ENST00000412866	T;T;T	0.25579	1.92;1.79;2.31	4.29	1.85	0.25348	.	0.691767	0.13770	N	0.363952	T	0.15478	0.0373	L	0.42245	1.32	0.09310	N	1	B;B;B;B;B	0.30146	0.014;0.119;0.128;0.27;0.057	B;B;B;B;B	0.30179	0.005;0.028;0.112;0.086;0.01	T	0.30238	-0.9985	10	0.02654	T	1	-10.7144	5.1769	0.15139	0.0:0.2672:0.0:0.7328	.	215;309;299;215;309	C9J1L3;Q9Y279-2;C9JH67;Q9Y279-3;Q9Y279	.;.;.;.;VSIG4_HUMAN	R	309;309;215	ENSP00000363869:K309R;ENSP00000411581:K309R;ENSP00000394143:K215R	ENSP00000363869:K309R	K	-	2	0	VSIG4	65161606	0.422000	0.25473	0.049000	0.19019	0.018000	0.09664	0.157000	0.16402	0.538000	0.28769	0.486000	0.48141	AAG	VSIG4	-	NULL	ENSG00000155659		0.438	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VSIG4	HGNC	protein_coding	OTTHUMT00000056986.1	-	0.00	15	0	T	NM_007268		65244881	-1	tier1	-	no_errors	ENST00000374737	ensembl	human	known	74_37	missense	77.78	4	14	SNP	0.098	C
VSIG8	391123	genome.wustl.edu	37	1	159827704	159827704	+	Silent	SNP	G	G	A	rs140295916		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:159827704G>A	ENST00000368100.1	-	4	618	c.483C>T	c.(481-483)aaC>aaT	p.N161N	C1orf204_ENST00000368102.1_5'Flank	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	161	Ig-like V-type 2.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					GCACCACATCGTTGCCATATG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		21336	0.0		0.001	False		,,,				2504	0.0																0								G		1,4405	2.1+/-5.4	0,1,2202	73.0	65.0	67.0		483	-2.7	0.2	1	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous	VSIG8	NM_001013661.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		161/415	159827704	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"""Immunoglobulin superfamily / V-set domain containing"""	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.483C>T	1.37:g.159827704G>A			Q5VU14	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom	p.N161	ENST00000368100.1	37	c.483	CCDS30913.1	1																																																																																			VSIG8	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000243284		0.582	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSIG8	HGNC	protein_coding	OTTHUMT00000085978.8		0.00	57	0	G	NM_001013661		159827704	-1			no_errors	ENST00000368100	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.667	A
VSNL1	7447	genome.wustl.edu	37	2	17836516	17836516	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:17836516G>A	ENST00000406397.1	+	4	956	c.431G>A	c.(430-432)gGc>gAc	p.G144D	VSNL1_ENST00000295156.4_Missense_Mutation_p.G144D|VSNL1_ENST00000404666.2_Missense_Mutation_p.G144D			P62760	VISL1_HUMAN	visinin-like 1	144					calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AATGAGGATGGCCTGACGCCT	0.428																																																	0													130.0	113.0	119.0					2																	17836516		2203	4300	6503	SO:0001583	missense	0				CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"""EF-hand domain containing"""	12722	protein-coding gene	gene with protein product	"""hippocalcin-like protein 3"""	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.431G>A	2.37:g.17836516G>A	ENSP00000384719:p.Gly144Asp		D6W515|P28677|P29103|P42323|Q9UM20	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.G144D	ENST00000406397.1	37	c.431	CCDS1689.1	2	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201344	0.38905	.	.	ENSG00000163032	ENST00000404666;ENST00000295156;ENST00000406397	T;T;T	0.72167	-0.63;-0.63;-0.63	5.58	3.76	0.43208	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.47002	0.1422	N	0.03903	-0.33	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.34304	-0.9834	10	0.46703	T	0.11	.	11.2432	0.48980	0.0689:0.1278:0.8033:0.0	.	144	P62760	VISL1_HUMAN	D	144	ENSP00000384014:G144D;ENSP00000295156:G144D;ENSP00000384719:G144D	ENSP00000295156:G144D	G	+	2	0	VSNL1	17699997	1.000000	0.71417	0.918000	0.36340	0.972000	0.66771	9.869000	0.99810	0.707000	0.31934	0.650000	0.86243	GGC	VSNL1	-	prints_Recoverin	ENSG00000163032		0.428	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VSNL1	HGNC	protein_coding	OTTHUMT00000323803.1	-	0.00	17	0	G	NM_003385		17836516	+1	tier1	-	no_errors	ENST00000295156	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.999	A
VSNL1	7447	genome.wustl.edu	37	2	17836616	17836616	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:17836616C>T	ENST00000406397.1	+	4	1056	c.531C>T	c.(529-531)agC>agT	p.S177S	VSNL1_ENST00000295156.4_Silent_p.S177S|VSNL1_ENST00000404666.2_Silent_p.S177S			P62760	VISL1_HUMAN	visinin-like 1	177	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)	p.S177R(2)		NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAAAGAGCGACCCTTCCA	0.443																																																	2	Substitution - Missense(2)	lung(2)											124.0	105.0	111.0					2																	17836616		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"""EF-hand domain containing"""	12722	protein-coding gene	gene with protein product	"""hippocalcin-like protein 3"""	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.531C>T	2.37:g.17836616C>T			D6W515|P28677|P29103|P42323|Q9UM20	Silent	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.S177	ENST00000406397.1	37	c.531	CCDS1689.1	2																																																																																			VSNL1	-	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	ENSG00000163032		0.443	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VSNL1	HGNC	protein_coding	OTTHUMT00000323803.1		0.00	18	0	C	NM_003385		17836616	+1			no_errors	ENST00000295156	ensembl	human	known	74_37	silent	10.00	18	2	SNP	1.000	T
VSTM2A	222008	genome.wustl.edu	37	7	54621750	54621750	+	Intron	SNP	C	C	T	rs577762846		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:54621750C>T	ENST00000407838.3	+	4	1040				GS1-18A18.1_ENST00000456049.1_RNA|VSTM2A_ENST00000402613.3_Intron|VSTM2A_ENST00000498834.1_Intron|VSTM2A_ENST00000404951.1_Silent_p.C275C	NM_182546.2	NP_872352.2	Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A							extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TGCAGAGCTGCGTGCTGGCTC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		18490	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001627	intron_variant	0			BC028404	CCDS5512.2, CCDS75604.1	7p11.2	2013-01-11	2007-08-10	2007-08-10	ENSG00000170419	ENSG00000170419		"""Immunoglobulin superfamily / V-set domain containing"""	28499	protein-coding gene	gene with protein product			"""V-set and transmembrane domain containing 2"""	VSTM2		12477932	Standard	XM_006715663		Approved	MGC33530	uc010kzf.3	Q8TAG5	OTTHUMG00000129271	ENST00000407838.3:c.634+3887C>T	7.37:g.54621750C>T			A4D2E9|B5MC94	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.C275	ENST00000407838.3	37	c.825	CCDS5512.2	7																																																																																			VSTM2A	-	NULL	ENSG00000170419		0.587	VSTM2A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VSTM2A	HGNC	protein_coding	OTTHUMT00000318694.1	-	0.00	51	0	C	NM_182546		54621750	+1	tier1	-	no_errors	ENST00000404951	ensembl	human	putative	74_37	silent	45.45	18	15	SNP	0.000	T
VSTM2B	342865	genome.wustl.edu	37	19	30020813	30020813	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:30020813G>A	ENST00000335523.7	+	4	470	c.385G>A	c.(385-387)Gtg>Atg	p.V129M	CTC-525D6.2_ENST00000579268.1_RNA	NM_001146339.1	NP_001139811.1	A6NLU5	VTM2B_HUMAN	V-set and transmembrane domain containing 2B	129	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)	2						CGAGTGCCGCGTGTCGGACTA	0.677																																																	0													21.0	25.0	24.0					19																	30020813		692	1589	2281	SO:0001583	missense	0				CCDS46034.1	19q12	2013-01-11			ENSG00000187135	ENSG00000187135		"""Immunoglobulin superfamily / V-set domain containing"""	33595	protein-coding gene	gene with protein product							Standard	NM_001146339		Approved		uc010xrl.1	A6NLU5		ENST00000335523.7:c.385G>A	19.37:g.30020813G>A	ENSP00000335038:p.Val129Met			Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	p.V129M	ENST00000335523.7	37	c.385	CCDS46034.1	19	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881328	0.91740	.	.	ENSG00000187135	ENST00000335523	T	0.34072	1.38	4.25	4.25	0.50352	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.090124	0.42294	D	0.000725	T	0.60689	0.2288	M	0.80183	2.485	0.51233	D	0.999918	D	0.89917	1.0	D	0.70227	0.968	T	0.67213	-0.5727	10	0.87932	D	0	-6.3927	14.5758	0.68246	0.0:0.0:1.0:0.0	.	129	A6NLU5	VTM2B_HUMAN	M	129	ENSP00000335038:V129M	ENSP00000335038:V129M	V	+	1	0	VSTM2B	34712653	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.274000	0.95731	2.390000	0.81377	0.442000	0.29010	GTG	VSTM2B	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000187135		0.677	VSTM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM2B	HGNC	protein_coding	OTTHUMT00000458601.1	-	0.00	71	0	G	NM_001146339		30020813	+1	tier1	-	no_errors	ENST00000335523	ensembl	human	known	74_37	missense	55.00	18	22	SNP	1.000	A
VWA1	64856	genome.wustl.edu	37	1	1372492	1372492	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:1372492C>T	ENST00000476993.1	+	2	337	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	VWA1_ENST00000338660.5_Intron|RP4-758J18.10_ENST00000417917.1_lincRNA|VWA1_ENST00000404702.3_Intron	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	87	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614)				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CACCGAGTTCCCCTTCGGCCA	0.687																																																	0													35.0	28.0	30.0					1																	1372492		2195	4290	6485	SO:0001583	missense	0			BC059409	CCDS27.1, CCDS28.1, CCDS28.2	1p36.33	2013-02-11			ENSG00000179403	ENSG00000179403		"""Fibronectin type III domain containing"""	30910	protein-coding gene	gene with protein product		611901				14527666, 12062410	Standard	NM_022834		Approved	FLJ22215, VWA-1, WARP	uc001afs.3	Q6PCB0	OTTHUMG00000002975	ENST00000476993.1:c.259C>T	1.37:g.1372492C>T	ENSP00000417185:p.Pro87Ser		A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5	Missense_Mutation	SNP	pfam_VWF_A,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A	p.P87S	ENST00000476993.1	37	c.259	CCDS27.1	1	.	.	.	.	.	.	.	.	.	.	.	6.058	0.379110	0.11466	.	.	ENSG00000179403	ENST00000476993	D	0.82619	-1.63	4.14	1.07	0.20283	von Willebrand factor, type A (3);	0.324738	0.29707	U	0.011407	T	0.64692	0.2621	N	0.25485	0.75	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.48747	-0.9008	10	0.07175	T	0.84	-5.2759	5.9428	0.19201	0.1565:0.6721:0.0:0.1713	.	87	Q6PCB0	VWA1_HUMAN	S	87	ENSP00000417185:P87S	ENSP00000417185:P87S	P	+	1	0	VWA1	1362355	0.996000	0.38824	0.998000	0.56505	0.627000	0.37826	0.476000	0.22180	0.119000	0.18210	-0.232000	0.12228	CCC	VWA1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000179403		0.687	VWA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA1	HGNC	protein_coding	OTTHUMT00000008291.1	-	0.00	109	0	C	NM_022834		1372492	+1	tier1	-	no_errors	ENST00000476993	ensembl	human	known	74_37	missense	33.80	46	24	SNP	1.000	T
VWA3B	200403	genome.wustl.edu	37	2	98804579	98804579	+	Missense_Mutation	SNP	C	C	T	rs200956872		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:98804579C>T	ENST00000477737.1	+	10	1657	c.1453C>T	c.(1453-1455)Cgg>Tgg	p.R485W	VWA3B_ENST00000451075.2_Missense_Mutation_p.R335W|VWA3B_ENST00000435344.1_Missense_Mutation_p.R485W	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	485										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGCCCTGGCCCGGATCCGAAG	0.483																																																	0													120.0	127.0	125.0					2																	98804579		1979	4160	6139	SO:0001583	missense	0			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1453C>T	2.37:g.98804579C>T	ENSP00000417955:p.Arg485Trp		B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R485W	ENST00000477737.1	37	c.1453	CCDS42718.1	2	.	.	.	.	.	.	.	.	.	.	C	9.060	0.994140	0.19043	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.24350	1.86;3.31;2.43	4.76	1.58	0.23477	.	1.441420	0.04443	N	0.371259	T	0.20659	0.0497	N	0.08118	0	0.09310	N	0.999998	P;P;D	0.59767	0.901;0.882;0.986	B;B;P	0.50231	0.252;0.253;0.635	T	0.25572	-1.0128	10	0.38643	T	0.18	.	7.7432	0.28853	0.3066:0.6111:0.0:0.0823	.	335;485;485	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	W	485;485;335	ENSP00000401959:R485W;ENSP00000417955:R485W;ENSP00000389463:R335W	ENSP00000388158:R485W	R	+	1	2	VWA3B	98171011	0.091000	0.21658	0.118000	0.21660	0.407000	0.30961	1.324000	0.33712	0.042000	0.15717	0.460000	0.39030	CGG	VWA3B	-	NULL	ENSG00000168658		0.483	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	-	0.00	159	0	C	NM_144992		98804579	+1	tier1	rs200956872	no_errors	ENST00000477737	ensembl	human	known	74_37	missense	36.25	102	58	SNP	0.364	T
WAPAL	23063	genome.wustl.edu	37	10	88196508	88196508	+	3'UTR	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:88196508G>T	ENST00000298767.5	-	0	4837				WAPAL_ENST00000484070.1_5'UTR	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)						mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AACTACCCTGGGTTTGACTAT	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.*792C>A	10.37:g.88196508G>T			A7E2B5|Q5VSK5|Q8IX10|Q92549	RNA	SNP	-	NULL	ENST00000298767.5	37	NULL	CCDS7375.1	10																																																																																			WAPAL	-	-	ENSG00000062650		0.328	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WAPAL	HGNC	protein_coding	OTTHUMT00000049151.2	-	0.00	62	0	G	NM_015045		88196508	-1	tier1	-	no_errors	ENST00000484070	ensembl	human	known	74_37	rna	5.75	82	5	SNP	0.997	T
WASF2	10163	genome.wustl.edu	37	1	27742509	27742509	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:27742509C>A	ENST00000430629.2	-	5	722	c.507G>T	c.(505-507)aaG>aaT	p.K169N	WASF2_ENST00000536657.1_Missense_Mutation_p.K169N	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	169					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TCATGATATCCTTGGTGTCCT	0.468																																																	0													265.0	215.0	232.0					1																	27742509		2203	4300	6503	SO:0001583	missense	0			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.507G>T	1.37:g.27742509C>A	ENSP00000396211:p.Lys169Asn		B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.K169N	ENST00000430629.2	37	c.507	CCDS304.1	1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398782	0.62177	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T;T	0.67865	-0.29;0.88	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.78336	0.4267	L	0.48642	1.525	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.922	T	0.80027	-0.1554	10	0.87932	D	0	-13.0314	18.7626	0.91858	0.0:1.0:0.0:0.0	.	169;169	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	N	169	ENSP00000396211:K169N;ENSP00000439883:K169N	ENSP00000396211:K169N	K	-	3	2	WASF2	27615096	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.970000	0.49240	2.530000	0.85305	0.563000	0.77884	AAG	WASF2	-	NULL	ENSG00000158195		0.468	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF2	HGNC	protein_coding	OTTHUMT00000009516.1	-	0.00	97	0	C	NM_006990		27742509	-1	tier1	-	no_errors	ENST00000430629	ensembl	human	known	74_37	missense	34.03	95	49	SNP	1.000	A
WASF3	10810	genome.wustl.edu	37	13	27259944	27259944	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:27259944G>A	ENST00000335327.5	+	10	1649	c.1471G>A	c.(1471-1473)Gac>Aac	p.D491N	WASF3_ENST00000361042.4_Missense_Mutation_p.D488N	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	491					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CGACTCTGACGACGACTCAGA	0.622																																																	0													96.0	76.0	83.0					13																	27259944		2203	4300	6503	SO:0001583	missense	0			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1471G>A	13.37:g.27259944G>A	ENSP00000335055:p.Asp491Asn		O94974|Q86VQ2	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.D491N	ENST00000335327.5	37	c.1471	CCDS9318.1	13	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516713	0.85495	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.61859	0.07;0.14	5.64	5.64	0.86602	.	0.043348	0.85682	D	0.000000	T	0.72463	0.3463	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.991	P;P	0.57911	0.829;0.627	T	0.74976	-0.3480	10	0.87932	D	0	-28.6354	19.6727	0.95916	0.0:0.0:1.0:0.0	.	488;491	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	N	488;491	ENSP00000354325:D488N;ENSP00000335055:D491N	ENSP00000335055:D491N	D	+	1	0	WASF3	26157944	1.000000	0.71417	0.698000	0.30274	0.651000	0.38670	9.282000	0.95840	2.645000	0.89757	0.561000	0.74099	GAC	WASF3	-	NULL	ENSG00000132970		0.622	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1	-	0.00	27	0	G			27259944	+1	tier1	-	no_errors	ENST00000335327	ensembl	human	known	74_37	missense	30.00	28	12	SNP	1.000	A
WASIR2	100132169	genome.wustl.edu	37	16	74640	74640	+	RNA	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:74640C>T	ENST00000527434.1	+	0	571				WASIR2_ENST00000329244.5_RNA|Z84812.4_ENST00000568710.1_RNA					WASH and IL9R antisense RNA 2																		ccatcacgcccggctaatttt	0.557																																																	0																																												0			BC032901, CR605219		16p13.3	2012-10-12	2012-08-15	2011-04-28	ENSG00000231439	ENSG00000231439		"""Long non-coding RNAs"""	38609	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 286A"", ""WASH and IL9R antisense RNA 2 (non-protein coding)"""	NCRNA00286A		11157797	Standard	XR_243326		Approved				OTTHUMG00000060721		16.37:g.74640C>T				RNA	SNP	-	NULL	ENST00000527434.1	37	NULL		16																																																																																			WASIR2	-	-	ENSG00000231439		0.557	WASIR2-001	KNOWN	basic	antisense	WASIR2	HGNC	antisense	OTTHUMT00000134191.1		0.00	35	0	C	XR_078518		74640	+1			no_errors	ENST00000329244	ensembl	human	known	74_37	rna	16.00	21	4	SNP	0.044	T
WASL	8976	genome.wustl.edu	37	7	123332485	123332485	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:123332485delT	ENST00000223023.4	-	9	1595	c.1263delA	c.(1261-1263)aaafs	p.K421fs		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	421	WH2 1. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTGCTCCACTTTTTTTAGCT	0.473																																																	0													77.0	74.0	75.0					7																	123332485		2203	4300	6503	SO:0001589	frameshift_variant	0			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1263delA	7.37:g.123332485delT	ENSP00000223023:p.Lys421fs		A1JUI9|Q7Z746	Frame_Shift_Del	DEL	pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom	p.V422fs	ENST00000223023.4	37	c.1263	CCDS34743.1	7																																																																																			WASL	-	pfam_WH2_dom,superfamily_WASP_C,smart_WH2_dom,pfscan_WH2_dom	ENSG00000106299		0.473	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASL	HGNC	protein_coding	OTTHUMT00000348522.1		0.00	45	0	T	NM_003941		123332485	-1	tier1		no_errors	ENST00000223023	ensembl	human	known	74_37	frame_shift_del	28.12	23	9	DEL	1.000	-
WBP2NL	164684	genome.wustl.edu	37	22	42399163	42399166	+	Intron	DEL	AAAA	AAAA	-	rs561360026	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:42399163_42399166delAAAA	ENST00000328823.9	+	1	93				WBP2NL_ENST00000461730.1_3'UTR	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like						egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						actccatctcaaaaaaaaaaaaaa	0.441																																																	0																																										SO:0001627	intron_variant	0			BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.62+4279AAAA>-	22.37:g.42399171_42399174delAAAA			A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	RNA	DEL	-	NULL	ENST00000328823.9	37	NULL	CCDS14029.1	22																																																																																			WBP2NL	-	-	ENSG00000183066		0.441	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP2NL	HGNC	protein_coding	OTTHUMT00000322037.1		0.00	58	0	AAAA	NM_152613		42399166	+1	tier1		no_errors	ENST00000461730	ensembl	human	known	74_37	rna	58.73	26	37	DEL	0.027:0.025:0.028:0.037	-
WDFY1	57590	genome.wustl.edu	37	2	224770667	224770667	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:224770667G>T	ENST00000233055.4	-	4	433	c.331C>A	c.(331-333)Cca>Aca	p.P111T		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	111						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TAATTACCTGGGTAGGTCTTG	0.264																																																	0													96.0	99.0	98.0					2																	224770667		2200	4294	6494	SO:0001583	missense	0			AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.331C>A	2.37:g.224770667G>T	ENSP00000233055:p.Pro111Thr		Q53S17|Q9H9D5|Q9P2B3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P111T	ENST00000233055.4	37	c.331	CCDS33387.1	2	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375043	0.42105	.	.	ENSG00000085449	ENST00000233055	T	0.27890	1.64	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.14476	-1.0471	10	0.13470	T	0.59	.	18.4875	0.90835	0.0:0.0:1.0:0.0	.	111	Q8IWB7	WDFY1_HUMAN	T	111	ENSP00000233055:P111T	ENSP00000233055:P111T	P	-	1	0	WDFY1	224478911	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.682000	0.84083	2.683000	0.91414	0.555000	0.69702	CCA	WDFY1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000085449		0.264	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY1	HGNC	protein_coding	OTTHUMT00000330908.1	-	0.00	63	0	G	NM_020830		224770667	-1	tier1	-	no_errors	ENST00000233055	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	T
WDR17	116966	genome.wustl.edu	37	4	177058691	177058691	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:177058691delG	ENST00000280190.4	+	10	1516	c.1360delG	c.(1360-1362)gggfs	p.G455fs	WDR17_ENST00000507824.2_Frame_Shift_Del_p.G438fs|WDR17_ENST00000508596.1_Frame_Shift_Del_p.G431fs|WDR17_ENST00000393643.2_Frame_Shift_Del_p.G431fs			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	455										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TTGTATTGCTGGGGGAACTTC	0.289																																																	0													77.0	81.0	80.0					4																	177058691		2202	4297	6499	SO:0001589	frameshift_variant	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1360delG	4.37:g.177058691delG	ENSP00000280190:p.Gly455fs		E7EQX0|Q0QD35	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G455fs	ENST00000280190.4	37	c.1360	CCDS3825.1	4																																																																																			WDR17	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000150627		0.289	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2		0.00	96	0	G			177058691	+1	tier1		no_errors	ENST00000280190	ensembl	human	known	74_37	frame_shift_del	28.72	67	27	DEL	1.000	-
WDR19	57728	genome.wustl.edu	37	4	39206803	39206804	+	Frame_Shift_Ins	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:39206803_39206804insT	ENST00000399820.3	+	8	787_788	c.633_634insT	c.(634-636)tttfs	p.F212fs	WDR19_ENST00000288634.7_Frame_Shift_Ins_p.F52fs|WDR19_ENST00000506503.1_Frame_Shift_Ins_p.F212fs	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	212					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)				large_intestine(1)	1						AGAAAACTTTGTTTTTTTTAAA	0.361																																																	0																																										SO:0001589	frameshift_variant	0			AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.641dupT	4.37:g.39206811_39206811dupT	ENSP00000382717:p.Phe212fs		B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.L213fs	ENST00000399820.3	37	c.633_634	CCDS47042.1	4																																																																																			WDR19	-	superfamily_WD40_repeat_dom	ENSG00000157796		0.361	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR19	HGNC	protein_coding	OTTHUMT00000360689.1		0.00	47	0	-			39206804	+1	tier1		no_errors	ENST00000399820	ensembl	human	known	74_37	frame_shift_ins	41.18	30	21	INS	0.993:0.998	T
WDR41	55255	genome.wustl.edu	37	5	76732211	76732212	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:76732211_76732212insA	ENST00000296679.4	-	12	1476_1477	c.1101_1102insT	c.(1099-1104)tttaacfs	p.N368fs	WDR41_ENST00000507029.1_Frame_Shift_Ins_p.N313fs|WDR41_ENST00000512033.1_5'Flank|WDR41_ENST00000414719.2_Frame_Shift_Ins_p.N114fs	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	368						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CCCCACATGTTAAAAAAACCTA	0.351																																																	0										0,4266		0,0,2133						5.7	1.0			97	1,8253		0,1,4126	no	frameshift	WDR41	NM_018268.2		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	0			AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.1102dupT	5.37:g.76732218_76732218dupA	ENSP00000296679:p.Asn368fs		B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.N367fs	ENST00000296679.4	37	c.1102_1101	CCDS4038.1	5																																																																																			WDR41	-	superfamily_WD40_repeat_dom	ENSG00000164253		0.351	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR41	HGNC	protein_coding	OTTHUMT00000220014.2		0.00	72	0	-	NM_018268		76732212	-1	tier1		no_errors	ENST00000296679	ensembl	human	known	74_37	frame_shift_ins	31.17	53	24	INS	1.000:1.000	A
WDR66	144406	genome.wustl.edu	37	12	122405917	122405917	+	Silent	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:122405917A>T	ENST00000288912.4	+	17	3467	c.2613A>T	c.(2611-2613)ggA>ggT	p.G871G	WDR66_ENST00000397454.2_Silent_p.G871G|WDR66_ENST00000545752.1_3'UTR	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	871							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCTAGGTGGGACTTCAGATCT	0.527																																					Esophageal Squamous(85;849 1794 49757 52143)												0													103.0	102.0	102.0					12																	122405917		1943	4135	6078	SO:0001819	synonymous_variant	0			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2613A>T	12.37:g.122405917A>T			C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.G871	ENST00000288912.4	37	c.2613	CCDS41853.1	12																																																																																			WDR66	-	superfamily_WD40_repeat_dom	ENSG00000158023		0.527	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	-	0.00	66	0	A	NM_144668		122405917	+1	tier1	-	no_errors	ENST00000288912	ensembl	human	known	74_37	silent	21.88	50	14	SNP	0.797	T
WDR7	23335	genome.wustl.edu	37	18	54363659	54363659	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:54363659T>C	ENST00000254442.3	+	12	1755	c.1544T>C	c.(1543-1545)aTt>aCt	p.I515T	WDR7_ENST00000357574.3_Missense_Mutation_p.I515T|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	515					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGTGGTGAGATTACTCAACTT	0.338																																																	0													125.0	120.0	122.0					18																	54363659		2203	4300	6503	SO:0001583	missense	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1544T>C	18.37:g.54363659T>C	ENSP00000254442:p.Ile515Thr		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I515T	ENST00000254442.3	37	c.1544	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	T	23.9	4.476091	0.84640	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.07114	3.22;3.22	6.03	6.03	0.97812	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	M	0.77103	2.36	0.80722	D	1	D;D	0.63880	0.992;0.993	D;D	0.72338	0.921;0.977	T	0.02037	-1.1225	10	0.87932	D	0	.	16.2196	0.82251	0.0:0.0:0.0:1.0	.	515;515	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	T	515	ENSP00000254442:I515T;ENSP00000350187:I515T	ENSP00000254442:I515T	I	+	2	0	WDR7	52514657	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.917000	0.87498	2.308000	0.77769	0.533000	0.62120	ATT	WDR7	-	superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000091157		0.338	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	-	0.00	71	0	T			54363659	+1	tier1	-	no_errors	ENST00000254442	ensembl	human	known	74_37	missense	40.26	46	31	SNP	1.000	C
WDR7	23335	genome.wustl.edu	37	18	54423951	54423951	+	Missense_Mutation	SNP	G	G	T	rs377518472		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:54423951G>T	ENST00000254442.3	+	15	2338	c.2127G>T	c.(2125-2127)agG>agT	p.R709S	WDR7_ENST00000357574.3_Missense_Mutation_p.R709S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	709					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AAGCCTCTAGGCCGAATACTG	0.428																																																	0													76.0	80.0	79.0					18																	54423951		2203	4300	6503	SO:0001583	missense	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2127G>T	18.37:g.54423951G>T	ENSP00000254442:p.Arg709Ser		A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R709S	ENST00000254442.3	37	c.2127	CCDS11962.1	18	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636995	0.29157	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.64803	-0.12;-0.11	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.59224	0.2178	N	0.08118	0	0.53005	D	0.999966	P;D	0.57899	0.919;0.981	P;D	0.69824	0.514;0.966	T	0.56366	-0.7991	10	0.15952	T	0.53	.	14.5563	0.68103	0.0715:0.0:0.9285:0.0	.	709;709	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	S	709	ENSP00000254442:R709S;ENSP00000350187:R709S	ENSP00000254442:R709S	R	+	3	2	WDR7	52574949	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.853000	0.39358	2.826000	0.97356	0.655000	0.94253	AGG	WDR7	-	NULL	ENSG00000091157		0.428	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	-	0.00	52	0	G			54423951	+1	tier1	-	no_errors	ENST00000254442	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
WDR81	124997	genome.wustl.edu	37	17	1619894	1619894	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:1619894C>A	ENST00000437219.2	+	1	78	c.25C>A	c.(25-27)Ctg>Atg	p.L9M	MIR22HG_ENST00000362190.1_lincRNA|WDR81_ENST00000446363.1_5'Flank|WDR81_ENST00000309182.5_5'UTR	NM_001163673.1	NP_001157145.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	931					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGTTCTCAGCCTGACACCGTC	0.567																																																	0													118.0	113.0	114.0					17																	1619894		692	1591	2283	SO:0001583	missense	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000437219.2:c.25C>A	17.37:g.1619894C>A	ENSP00000391074:p.Leu9Met		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L9M	ENST00000437219.2	37	c.25	CCDS54061.1	17	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658091	0.29425	.	.	ENSG00000167716	ENST00000455636;ENST00000437219	T	0.18960	2.18	4.69	1.46	0.22682	.	.	.	.	.	T	0.09642	0.0237	N	0.08118	0	0.18873	N	0.999989	B	0.19445	0.036	B	0.25759	0.063	T	0.32322	-0.9911	9	0.42905	T	0.14	.	2.9197	0.05765	0.1786:0.5327:0.1874:0.1013	.	9	B7Z579	.	M	9	ENSP00000391074:L9M	ENSP00000391074:L9M	L	+	1	2	WDR81	1566644	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.058000	0.14301	0.170000	0.19704	0.561000	0.74099	CTG	WDR81	-	NULL	ENSG00000167716		0.567	WDR81-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR81	HGNC	protein_coding		-	0.00	41	0	C	NM_152348		1619894	+1	tier1	-	no_errors	ENST00000437219	ensembl	human	known	74_37	missense	33.33	28	14	SNP	0.000	A
WDR90	197335	genome.wustl.edu	37	16	708575	708575	+	Silent	SNP	C	C	T	rs375770152	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:708575C>T	ENST00000293879.4	+	23	2817	c.2817C>T	c.(2815-2817)gaC>gaT	p.D939D	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000549091.1_Silent_p.D939D			Q96KV7	WDR90_HUMAN	WD repeat domain 90	939										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TCAGTGAGGACGCCCGCTTCC	0.667													C|||	4	0.000798722	0.0	0.0	5008	,	,		17423	0.0		0.0	False		,,,				2504	0.0041																0													45.0	53.0	51.0					16																	708575		2112	4207	6319	SO:0001819	synonymous_variant	0			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.2817C>T	16.37:g.708575C>T			Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D939	ENST00000293879.4	37	c.2817	CCDS42092.1	16																																																																																			WDR90	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000161996		0.667	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	-	0.00	63	0	C	NM_145294		708575	+1	tier1	-	no_errors	ENST00000549091	ensembl	human	novel	74_37	silent	43.75	25	21	SNP	0.060	T
WDR90	197335	genome.wustl.edu	37	16	712011	712011	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:712011C>T	ENST00000293879.4	+	32	3985	c.3985C>T	c.(3985-3987)Cgt>Tgt	p.R1329C	WDR90_ENST00000549091.1_Missense_Mutation_p.R1329C			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1329										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGGGACACGCGTGCCGGCCG	0.662																																																	0													43.0	53.0	49.0					16																	712011		2084	4215	6299	SO:0001583	missense	0			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.3985C>T	16.37:g.712011C>T	ENSP00000293879:p.Arg1329Cys		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1329C	ENST00000293879.4	37	c.3985	CCDS42092.1	16	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663406	0.47572	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.46819	0.86;0.86	5.18	-10.4	0.00318	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	1.191550	0.06124	U	0.669477	T	0.46190	0.1380	M	0.78049	2.395	0.09310	N	1	D;D	0.71674	0.997;0.998	P;P	0.50708	0.648;0.634	T	0.53143	-0.8480	10	0.56958	D	0.05	.	1.3792	0.02227	0.3181:0.1839:0.3154:0.1826	.	1329;1329	F8VUX9;Q96KV7	.;WDR90_HUMAN	C	1329	ENSP00000448122:R1329C;ENSP00000293879:R1329C	ENSP00000293879:R1329C	R	+	1	0	WDR90	652012	0.000000	0.05858	0.000000	0.03702	0.177000	0.22998	-0.668000	0.05268	-2.557000	0.00476	-0.268000	0.10319	CGT	WDR90	-	superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat_dom	ENSG00000161996		0.662	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	-	0.00	29	0	C	NM_145294		712011	+1	tier1	-	no_errors	ENST00000549091	ensembl	human	novel	74_37	missense	57.14	9	12	SNP	0.000	T
WDTC1	23038	genome.wustl.edu	37	1	27621108	27621108	+	Frame_Shift_Del	DEL	G	G	-	rs145339479		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:27621108delG	ENST00000319394.3	+	9	1396	c.861delG	c.(859-861)atgfs	p.M287fs	WDTC1_ENST00000361771.3_Frame_Shift_Del_p.M287fs	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	287					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TAGTCAACATGGGGGGGGAAC	0.537																																																	0													75.0	64.0	68.0					1																	27621108		2203	4300	6503	SO:0001589	frameshift_variant	0			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.861delG	1.37:g.27621108delG	ENSP00000317971:p.Met287fs		D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E290fs	ENST00000319394.3	37	c.861		1																																																																																			WDTC1	-	superfamily_WD40_repeat_dom	ENSG00000142784		0.537	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding			0.00	45	0	G	NM_015023		27621108	+1	tier1		no_errors	ENST00000319394	ensembl	human	known	74_37	frame_shift_del	38.30	29	18	DEL	1.000	-
WDTC1	23038	genome.wustl.edu	37	1	27622891	27622891	+	Splice_Site	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:27622891G>T	ENST00000319394.3	+	10	1483	c.948G>T	c.(946-948)ggG>ggT	p.G316G	WDTC1_ENST00000361771.3_Splice_Site_p.G316G	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	316					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		ACTCCTCGGGGGGTAAGTTCT	0.517																																																	0													133.0	133.0	133.0					1																	27622891		2203	4300	6503	SO:0001630	splice_region_variant	0			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.949+1G>T	1.37:g.27622891G>T			D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G316	ENST00000319394.3	37	c.948		1																																																																																			WDTC1	-	superfamily_WD40_repeat_dom	ENSG00000142784		0.517	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding		-	0.00	53	0	G	NM_015023	Silent	27622891	+1	tier1	-	no_errors	ENST00000319394	ensembl	human	known	74_37	silent	6.85	68	5	SNP	1.000	T
WHAMM	123720	genome.wustl.edu	37	15	83499658	83499658	+	Missense_Mutation	SNP	C	C	T	rs375991281	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:83499658C>T	ENST00000286760.4	+	9	2048	c.1949C>T	c.(1948-1950)cCg>cTg	p.P650L		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	650	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.|Pro-rich.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						ccaccaccgccgccaccgccg	0.572													C|||	3	0.000599042	0.0023	0.0	5008	,	,		9374	0.0		0.0	False		,,,				2504	0.0																0								C	LEU/PRO	3,3785		0,3,1891	12.0	14.0	13.0		1949	0.2	0.0	15		13	0,8160		0,0,4080	no	missense	WHAMM	NM_001080435.1	98	0,3,5971	TT,TC,CC		0.0,0.0792,0.0251	benign	650/810	83499658	3,11945	1894	4080	5974	SO:0001583	missense	0			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.1949C>T	15.37:g.83499658C>T	ENSP00000286760:p.Pro650Leu		Q8N1J9	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_WH2_dom	p.P650L	ENST00000286760.4	37	c.1949	CCDS45333.1	15	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230171	0.39399	7.92E-4	0.0	ENSG00000156232	ENST00000286760;ENST00000234505	T	0.39406	1.08	4.65	0.214	0.15249	.	0.346611	0.29932	N	0.010829	T	0.29882	0.0747	L	0.39898	1.24	0.19775	N	0.99995	D	0.61697	0.99	P	0.47162	0.54	T	0.17806	-1.0357	10	0.23302	T	0.38	.	3.5416	0.07814	0.2355:0.4829:0.0:0.2817	.	650	Q8TF30	WHAMM_HUMAN	L	650	ENSP00000286760:P650L	ENSP00000234505:P650L	P	+	2	0	WHAMM	81296712	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	0.755000	0.26405	0.077000	0.16863	-1.368000	0.01194	CCG	WHAMM	-	NULL	ENSG00000156232		0.572	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHAMM	HGNC	protein_coding	OTTHUMT00000418463.1	-	0.00	224	0	C			83499658	+1	tier1	-	no_errors	ENST00000286760	ensembl	human	known	74_37	missense	7.02	212	16	SNP	0.000	T
WHSC1L1	54904	genome.wustl.edu	37	8	38174997	38174997	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:38174997C>T	ENST00000317025.8	-	9	2373				WHSC1L1_ENST00000527502.1_Intron|WHSC1L1_ENST00000525081.1_5'UTR|WHSC1L1_ENST00000433384.2_Intron|WHSC1L1_ENST00000316985.3_3'UTR	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1						histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CCGCCATTTCCGATGAGTTTC	0.408			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0																																										SO:0001627	intron_variant	0			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.1855+1415G>A	8.37:g.38174997C>T			B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	RNA	SNP	-	NULL	ENST00000317025.8	37	NULL	CCDS43729.1	8																																																																																			WHSC1L1	-	-	ENSG00000147548		0.408	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	-	0.00	32	0	C	NM_023034		38174997	-1	tier1	-	no_errors	ENST00000525081	ensembl	human	known	74_37	rna	27.78	39	15	SNP	1.000	T
WIZ	58525	genome.wustl.edu	37	19	15549931	15549933	+	In_Frame_Del	DEL	TCC	TCC	-	rs542861356	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:15549931_15549933delTCC	ENST00000389282.4	-	3	1941_1943	c.1728_1730delGGA	c.(1726-1731)gaggat>gat	p.E576del	WIZ_ENST00000263381.7_Intron			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	576	Poly-Glu.				positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CAGCACTACAtcctcctcctcct	0.611																																																	0																																										SO:0001651	inframe_deletion	0			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.1728_1730delGGA	19.37:g.15549940_15549942delTCC	ENSP00000373933:p.Glu576del		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	In_Frame_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E576in_frame_del	ENST00000389282.4	37	c.1730_1728		19																																																																																			WIZ	-	NULL	ENSG00000011451		0.611	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding			0.00	21	0	TCC	NM_021241		15549933	-1	tier1		no_errors	ENST00000389282	ensembl	human	known	74_37	in_frame_del	28.57	15	6	DEL	0.082:0.112:0.058	-
WLS	79971	genome.wustl.edu	37	1	68603679	68603679	+	Intron	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:68603679A>G	ENST00000262348.4	-	11	1616				GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000434072.1_RNA|WLS_ENST00000354777.2_Intron|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000540432.1_Intron|WLS_ENST00000370976.3_Intron	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator						anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						ACATAACACCAATAAAGGAAC	0.423																																																	0																																										SO:0001627	intron_variant	0			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.1363-63T>C	1.37:g.68603679A>G			B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	RNA	SNP	-	NULL	ENST00000262348.4	37	NULL	CCDS642.1	1																																																																																			WLS	-	-	ENSG00000116729		0.423	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WLS	HGNC	protein_coding	OTTHUMT00000025368.1	-	0.00	22	0	A	NM_024911		68603679	-1	tier1	-	no_errors	ENST00000498615	ensembl	human	known	74_37	rna	19.35	25	6	SNP	0.000	G
WNT16	51384	genome.wustl.edu	37	7	120969811	120969811	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:120969811G>A	ENST00000222462.2	+	2	576	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	WNT16_ENST00000361301.2_Missense_Mutation_p.A86T	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	96					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CATGATCACCGCCGCCGCCAC	0.662																																																	0													19.0	22.0	21.0					7																	120969811		2199	4285	6484	SO:0001583	missense	0			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.286G>A	7.37:g.120969811G>A	ENSP00000222462:p.Ala96Thr		Q2M3G1|Q9Y5C0	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt	p.A96T	ENST00000222462.2	37	c.286	CCDS5781.1	7	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.965965	0.00461	.	.	ENSG00000002745	ENST00000361301;ENST00000222462;ENST00000414945	T;T	0.75821	-0.97;-0.97	1.53	-1.21	0.09524	.	0.689178	0.14184	N	0.335821	T	0.49626	0.1568	N	0.16266	0.395	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.001	T	0.21177	-1.0253	10	0.21540	T	0.41	.	3.7348	0.08507	0.3158:0.4054:0.2788:0.0	.	96;86	Q9UBV4;E9PH60	WNT16_HUMAN;.	T	86;96;37	ENSP00000355065:A86T;ENSP00000222462:A96T	ENSP00000222462:A96T	A	+	1	0	WNT16	120757047	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.689000	0.05144	-1.037000	0.03283	-1.031000	0.02408	GCC	WNT16	-	pfam_Wnt,smart_Wnt,prints_Wnt16	ENSG00000002745		0.662	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT16	HGNC	protein_coding	OTTHUMT00000346843.1	-	0.00	73	0	G	NM_057168		120969811	+1	tier1	-	no_errors	ENST00000222462	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.000	A
WNT5A	7474	genome.wustl.edu	37	3	55503989	55503989	+	3'UTR	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:55503989delA	ENST00000474267.1	-	0	1795				WNT5A_ENST00000493406.1_5'UTR|WNT5A_ENST00000264634.4_3'UTR			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A						activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|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)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		TGGTAACAGGAAAAAAAATGG	0.303																																																	0																																										SO:0001624	3_prime_UTR_variant	0			L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.*131T>-	3.37:g.55503989delA			A8K4A4|Q6P278	RNA	DEL	-	NULL	ENST00000474267.1	37	NULL	CCDS46850.1	3																																																																																			WNT5A	-	-	ENSG00000114251		0.303	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5A	HGNC	protein_coding	OTTHUMT00000350793.3		0.00	29	0	A	NM_003392		55503989	-1	tier1		no_errors	ENST00000493406	ensembl	human	known	74_37	rna	30.56	25	11	DEL	0.000	-
WNT5B	81029	genome.wustl.edu	37	12	1755422	1755422	+	3'UTR	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:1755422G>A	ENST00000397196.2	+	0	1316				WNT5B_ENST00000310594.3_3'UTR|WNT5B_ENST00000545747.1_3'UTR|WNT5B_ENST00000537031.1_3'UTR	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B						cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TAAATAGCCCGGAGGGCCTGC	0.488																																																	0													18.0	20.0	19.0					12																	1755422		2203	4293	6496	SO:0001624	3_prime_UTR_variant	0			AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.*4G>A	12.37:g.1755422G>A			A8K315|D3DUP9|Q96S49|Q9BV04	RNA	SNP	-	NULL	ENST00000397196.2	37	NULL	CCDS8510.1	12																																																																																			WNT5B	-	-	ENSG00000111186		0.488	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5B	HGNC	protein_coding	OTTHUMT00000206747.2	-	0.00	35	0	G			1755422	+1	tier1	-	no_errors	ENST00000545747	ensembl	human	putative	74_37	rna	18.64	46	11	SNP	0.000	A
WNT7B	7477	genome.wustl.edu	37	22	46327144	46327144	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr22:46327144C>T	ENST00000339464.4	-	3	778	c.404G>A	c.(403-405)cGc>cAc	p.R135H	WNT7B_ENST00000410089.1_Missense_Mutation_p.R119H|WNT7B_ENST00000409496.3_Missense_Mutation_p.R139H|WNT7B_ENST00000410058.1_Missense_Mutation_p.R135H	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	135					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCTTCTCGCGGTCGCAGCC	0.682																																																	0													45.0	44.0	44.0					22																	46327144		2203	4299	6502	SO:0001583	missense	0			AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.404G>A	22.37:g.46327144C>T	ENSP00000341032:p.Arg135His		B8A596|Q96Q12	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.R135H	ENST00000339464.4	37	c.404	CCDS33667.1	22	.	.	.	.	.	.	.	.	.	.	c	10.18	1.279893	0.23392	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	3.21	2.19	0.27852	.	0.000000	0.64402	U	0.000001	T	0.68072	0.2961	L	0.46741	1.465	0.46823	D	0.999219	B;B	0.19073	0.019;0.033	B;B	0.24269	0.018;0.052	T	0.58612	-0.7606	10	0.25751	T	0.34	.	9.384	0.38331	0.0:0.8923:0.0:0.1077	.	139;135	A8K0G1;P56706	.;WNT7B_HUMAN	H	135;119;139;135	ENSP00000341032:R135H;ENSP00000386781:R119H;ENSP00000386546:R139H;ENSP00000387217:R135H	ENSP00000341032:R135H	R	-	2	0	WNT7B	44705808	0.997000	0.39634	0.801000	0.32222	0.026000	0.11368	3.626000	0.54245	0.565000	0.29255	0.306000	0.20318	CGC	WNT7B	-	pfam_Wnt,smart_Wnt,prints_Wnt7	ENSG00000188064		0.682	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7B	HGNC	protein_coding	OTTHUMT00000336418.1	-	0.00	71	0	C	NM_058238		46327144	-1	tier1	-	no_errors	ENST00000339464	ensembl	human	known	74_37	missense	31.43	48	22	SNP	0.985	T
WNT9B	7484	genome.wustl.edu	37	17	44952482	44952482	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:44952482C>T	ENST00000290015.2	+	3	403	c.350C>T	c.(349-351)gCt>gTt	p.A117V	WNT9B_ENST00000393461.2_Missense_Mutation_p.A117V	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	117					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AAAGAGACAGCTTTCCTGTAC	0.652																																																	0													105.0	123.0	117.0					17																	44952482		2202	4296	6498	SO:0001583	missense	0			AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.350C>T	17.37:g.44952482C>T	ENSP00000290015:p.Ala117Val		Q6UXT4|Q96Q09	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.A117V	ENST00000290015.2	37	c.350	CCDS11506.1	17	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294203	0.81025	.	.	ENSG00000158955	ENST00000376843;ENST00000393461;ENST00000290015	D;D	0.82711	-1.64;-1.64	4.61	4.61	0.57282	.	0.050891	0.85682	D	0.000000	D	0.92779	0.7704	H	0.96805	3.885	0.80722	D	1	D;P	0.53151	0.958;0.834	P;P	0.54590	0.756;0.653	D	0.95290	0.8394	10	0.87932	D	0	.	17.9971	0.89187	0.0:1.0:0.0:0.0	.	117;117	E7EPC3;O14905	.;WNT9B_HUMAN	V	111;117;117	ENSP00000377105:A117V;ENSP00000290015:A117V	ENSP00000290015:A117V	A	+	2	0	WNT9B	42307481	1.000000	0.71417	0.997000	0.53966	0.288000	0.27193	7.604000	0.82830	2.550000	0.86006	0.462000	0.41574	GCT	WNT9B	-	pfam_Wnt,smart_Wnt,prints_Wnt	ENSG00000158955		0.652	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT9B	HGNC	protein_coding	OTTHUMT00000440433.1		0.00	96	0	C	NM_003396		44952482	+1			no_errors	ENST00000290015	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T
WRAP73	49856	genome.wustl.edu	37	1	3548109	3548109	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:3548109C>T	ENST00000270708.7	-	11	1234	c.1161G>A	c.(1159-1161)cgG>cgA	p.R387R	WRAP73_ENST00000378322.3_Silent_p.R387R	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	387						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						AGATGGCCAGCCGCGGCTGCT	0.662																																																	0													21.0	22.0	22.0					1																	3548109		2196	4290	6486	SO:0001819	synonymous_variant	0			AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.1161G>A	1.37:g.3548109C>T			Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.R387	ENST00000270708.7	37	c.1161	CCDS48.1	1																																																																																			WRAP73	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000116213		0.662	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRAP73	HGNC	protein_coding	OTTHUMT00000001470.1	-	0.00	43	0	C			3548109	-1	tier1	-	no_errors	ENST00000270708	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.997	T
WWOX	51741	genome.wustl.edu	37	16	78420830	78420830	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:78420830T>C	ENST00000566780.1	+	6	956	c.590T>C	c.(589-591)tTc>tCc	p.F197S	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.F197S|WWOX_ENST00000402655.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	197	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GCTGAAGCATTCAAGGCCAAG	0.408																																																	0													120.0	116.0	117.0					16																	78420830		1956	4149	6105	SO:0001583	missense	0			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.590T>C	16.37:g.78420830T>C	ENSP00000457230:p.Phe197Ser		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH	p.F197S	ENST00000566780.1	37	c.590	CCDS42196.1	16	.	.	.	.	.	.	.	.	.	.	T	20.4	3.986598	0.74589	.	.	ENSG00000186153	ENST00000408984;ENST00000299644	D	0.87256	-2.23	5.52	5.52	0.82312	NAD(P)-binding domain (1);	0.052280	0.85682	D	0.000000	D	0.93959	0.8066	M	0.88775	2.98	0.58432	D	0.999998	D	0.63046	0.992	D	0.64687	0.928	D	0.95024	0.8163	10	0.87932	D	0	.	15.6564	0.77140	0.0:0.0:0.0:1.0	.	197	Q9NZC7	WWOX_HUMAN	S	197;40	ENSP00000386161:F197S	ENSP00000299644:F40S	F	+	2	0	WWOX	76978331	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	6.581000	0.74045	2.100000	0.63781	0.533000	0.62120	TTC	WWOX	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000186153		0.408	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WWOX	HGNC	protein_coding	OTTHUMT00000434328.1	-	0.00	93	0	T			78420830	+1	tier1	-	no_errors	ENST00000566780	ensembl	human	known	74_37	missense	63.04	17	29	SNP	1.000	C
WWOX	51741	genome.wustl.edu	37	16	78466429	78466429	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:78466429G>A	ENST00000566780.1	+	8	1202	c.836G>A	c.(835-837)cGc>cAc	p.R279H	WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.R279H|WWOX_ENST00000402655.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	279	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		GACTTCAGTCGCCTCTCTCCA	0.458																																																	0													112.0	114.0	114.0					16																	78466429		1952	4137	6089	SO:0001583	missense	0			AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.836G>A	16.37:g.78466429G>A	ENSP00000457230:p.Arg279His		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH	p.R279H	ENST00000566780.1	37	c.836	CCDS42196.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.538|8.538	0.872563|0.872563	0.17322|0.17322	.|.	.|.	ENSG00000186153|ENSG00000186153	ENST00000299644|ENST00000408984	.|T	.|0.22134	.|1.97	5.93|5.93	3.79|3.79	0.43588|0.43588	.|NAD(P)-binding domain (1);	.|0.269957	.|0.37669	.|N	.|0.001995	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.21097|0.21097	0.63|0.63	0.34786|0.34786	D|D	0.735265|0.735265	.|B	.|0.09022	.|0.002	.|B	.|0.04013	.|0.001	T|T	0.12400|0.12400	-1.0549|-1.0549	6|10	0.87932|0.31617	D|T	0|0.26	.|.	12.285|12.285	0.54788|0.54788	0.0:0.0:0.4283:0.5717|0.0:0.0:0.4283:0.5717	.|.	.|279	.|Q9NZC7	.|WWOX_HUMAN	T|H	122|279	.|ENSP00000386161:R279H	ENSP00000299644:A122T|ENSP00000386161:R279H	A|R	+|+	1|2	0|0	WWOX|WWOX	77023930|77023930	1.000000|1.000000	0.71417|0.71417	0.881000|0.881000	0.34555|0.34555	0.021000|0.021000	0.10359|0.10359	4.487000|4.487000	0.60293|0.60293	1.451000|1.451000	0.47736|0.47736	0.655000|0.655000	0.94253|0.94253	GCC|CGC	WWOX	-	NULL	ENSG00000186153		0.458	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	WWOX	HGNC	protein_coding	OTTHUMT00000434328.1		0.00	20	0	G			78466429	+1			no_errors	ENST00000566780	ensembl	human	known	74_37	missense	21.43	11	3	SNP	1.000	A
XCL2	6846	genome.wustl.edu	37	1	168510294	168510294	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:168510294C>T	ENST00000367819.2	-	3	273	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	81					blood circulation (GO:0008015)|cell chemotaxis (GO:0060326)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					ATGCTCCTGACCACGTCTCTC	0.488																																																	0													274.0	216.0	236.0					1																	168510294		2203	4300	6503	SO:0001583	missense	0			BC070309	CCDS1273.1	1q24.2	2013-02-28	2002-08-22	2002-08-23	ENSG00000143185	ENSG00000143185		"""Endogenous ligands"""	10646	protein-coding gene	gene with protein product		604828	"""small inducible cytokine subfamily C, member 2"""	SCYC2		7875320	Standard	NM_003175		Approved	SCM-1b	uc001gfn.4	Q9UBD3	OTTHUMG00000034549	ENST00000367819.2:c.241G>A	1.37:g.168510294C>T	ENSP00000356793:p.Val81Ile			Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_XCL1	p.V81I	ENST00000367819.2	37	c.241	CCDS1273.1	1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.582136	0.00879	.	.	ENSG00000143185	ENST00000367819	T	0.03860	3.78	2.35	-2.46	0.06461	Chemokine interleukin-8-like domain (3);	0.836448	0.10746	N	0.638859	T	0.00468	0.0015	N	0.05574	-0.02	0.21841	N	0.999511	B	0.13594	0.008	B	0.17979	0.02	T	0.45175	-0.9279	9	0.02654	T	1	-12.6962	3.2585	0.06840	0.0:0.2653:0.2299:0.5048	.	81	Q9UBD3	XCL2_HUMAN	I	81	ENSP00000356793:V81I	ENSP00000356793:V81I	V	-	1	0	XCL2	166776918	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.707000	0.05041	-0.445000	0.07159	0.184000	0.17185	GTC	XCL2	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom	ENSG00000143185		0.488	XCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XCL2	HGNC	protein_coding	OTTHUMT00000083613.1	-	0.00	221	0	C	NM_003175		168510294	-1	tier1	-	no_errors	ENST00000367819	ensembl	human	known	74_37	missense	30.34	202	88	SNP	0.000	T
XIST	7503	genome.wustl.edu	37	X	73071132	73071132	+	lincRNA	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:73071132C>T	ENST00000429829.1	-	0	1456					NR_001564.2				X inactive specific transcript (non-protein coding)																		ATTGTCCCTGCGGCAAAACCC	0.517																																																	0													108.0	103.0	105.0					X																	73071132		876	1991	2867			0			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071132C>T				RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-	ENSG00000229807		0.517	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	-	0.00	35	0	C	NR_001564		73071132	-1	tier1	-	no_errors	ENST00000429829	ensembl	human	known	74_37	rna	84.00	4	21	SNP	0.000	T
XPO6	23214	genome.wustl.edu	37	16	28164033	28164033	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:28164033G>T	ENST00000304658.5	-	8	1671	c.1171C>A	c.(1171-1173)Cag>Aag	p.Q391K	XPO6_ENST00000565698.1_Missense_Mutation_p.Q377K|XPO6_ENST00000561488.1_5'Flank	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	391					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ACAGGGAACTGGGAGTAAGAC	0.403																																																	0													84.0	76.0	78.0					16																	28164033		1859	4099	5958	SO:0001583	missense	0			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.1171C>A	16.37:g.28164033G>T	ENSP00000302790:p.Gln391Lys		A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.Q391K	ENST00000304658.5	37	c.1171	CCDS42135.1	16	.	.	.	.	.	.	.	.	.	.	G	11.50	1.656889	0.29425	.	.	ENSG00000169180	ENST00000304658	T	0.65916	-0.18	5.71	4.73	0.59995	Armadillo-like helical (1);Armadillo-type fold (1);	0.056260	0.64402	D	0.000001	T	0.50000	0.1590	L	0.43152	1.355	0.80722	D	1	B;P	0.39216	0.192;0.664	B;B	0.32928	0.046;0.155	T	0.45862	-0.9232	10	0.20046	T	0.44	-9.2129	14.278	0.66194	0.0:0.15:0.85:0.0	.	391;391	B7ZM10;Q96QU8	.;XPO6_HUMAN	K	391	ENSP00000302790:Q391K	ENSP00000302790:Q391K	Q	-	1	0	XPO6	28071534	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.433000	0.73404	1.369000	0.46134	0.655000	0.94253	CAG	XPO6	-	superfamily_ARM-type_fold	ENSG00000169180		0.403	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	-	0.00	30	0	G	XM_055195		28164033	-1	tier1	-	no_errors	ENST00000304658	ensembl	human	known	74_37	missense	12.90	27	4	SNP	1.000	T
XPOT	11260	genome.wustl.edu	37	12	64812733	64812733	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:64812733G>A	ENST00000332707.5	+	6	877	c.348G>A	c.(346-348)gaG>gaA	p.E116E		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	116	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)	p.E116E(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTGTTACAGAGTATCTCACTA	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											113.0	107.0	109.0					12																	64812733		2203	4300	6503	SO:0001819	synonymous_variant	0			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.348G>A	12.37:g.64812733G>A			A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.E116	ENST00000332707.5	37	c.348	CCDS31852.1	12																																																																																			XPOT	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000184575		0.438	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPOT	HGNC	protein_coding	OTTHUMT00000401122.1		0.00	77	0	G	NM_007235		64812733	+1			no_errors	ENST00000332707	ensembl	human	known	74_37	silent	5.38	88	5	SNP	0.939	A
XRCC5	7520	genome.wustl.edu	37	2	216986826	216986826	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:216986826G>T	ENST00000392133.3	+	8	994	c.533G>T	c.(532-534)aGa>aTa	p.R178I	XRCC5_ENST00000392132.2_Missense_Mutation_p.R178I			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	178				R -> S (in Ref. 4; BAD96323). {ECO:0000305}.	brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AGTGGGGACAGAGGAGATGGC	0.443								Non-homologous end-joining																																									0													100.0	87.0	92.0					2																	216986826		2203	4300	6503	SO:0001583	missense	0			AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.533G>T	2.37:g.216986826G>T	ENSP00000375978:p.Arg178Ile		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Missense_Mutation	SNP	pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom	p.R178I	ENST00000392133.3	37	c.533	CCDS2402.1	2	.	.	.	.	.	.	.	.	.	.	G	11.25	1.584564	0.28268	.	.	ENSG00000079246	ENST00000392133;ENST00000392132	T;T	0.31247	1.5;1.5	5.09	2.07	0.26955	Ku70/Ku80, N-terminal alpha/beta (1);von Willebrand factor, type A (1);	0.478362	0.22848	N	0.054886	T	0.30759	0.0775	L	0.51422	1.61	0.48288	D	0.999629	B	0.26318	0.146	B	0.31101	0.124	T	0.16689	-1.0394	10	0.31617	T	0.26	.	16.0651	0.80865	0.0:0.4548:0.5452:0.0	.	178	P13010	XRCC5_HUMAN	I	178	ENSP00000375978:R178I;ENSP00000375977:R178I	ENSP00000375977:R178I	R	+	2	0	XRCC5	216695071	0.956000	0.32656	0.999000	0.59377	0.341000	0.28922	0.393000	0.20817	0.821000	0.34540	0.650000	0.86243	AGA	XRCC5	-	pfam_Ku_N,smart_VWF_A	ENSG00000079246		0.443	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC5	HGNC	protein_coding	OTTHUMT00000256675.3		0.00	85	0	G	NM_021141		216986826	+1			no_errors	ENST00000392132	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
XYLT1	64131	genome.wustl.edu	37	16	17292232	17292232	+	Silent	SNP	T	T	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:17292232T>G	ENST00000261381.6	-	5	1210	c.1126A>C	c.(1126-1128)Agg>Cgg	p.R376R		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	376					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGTACTGCCTGGAGACCTGG	0.587																																																	0													80.0	62.0	68.0					16																	17292232		2197	4300	6497	SO:0001819	synonymous_variant	0			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1126A>C	16.37:g.17292232T>G			Q9H1B6	Silent	SNP	pfam_XylT,pfam_Glyco_trans_14	p.R376	ENST00000261381.6	37	c.1126	CCDS10569.1	16																																																																																			XYLT1	-	pfam_Glyco_trans_14	ENSG00000103489		0.587	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT1	HGNC	protein_coding	OTTHUMT00000252241.2	-	0.00	79	0	T	NM_022166		17292232	-1	tier1	-	no_errors	ENST00000261381	ensembl	human	known	74_37	silent	38.71	38	24	SNP	0.974	G
XYLT2	64132	genome.wustl.edu	37	17	48431259	48431259	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:48431259C>T	ENST00000017003.2	+	2	453	c.404C>T	c.(403-405)gCa>gTa	p.A135V	XYLT2_ENST00000507602.1_Missense_Mutation_p.A135V	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	135					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					CTGGTAGGGGCAGCTGGCTTC	0.711																																																	0													15.0	18.0	17.0					17																	48431259		2185	4269	6454	SO:0001583	missense	0			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.404C>T	17.37:g.48431259C>T	ENSP00000017003:p.Ala135Val		Q6UY41|Q86V00	Missense_Mutation	SNP	pfam_XylT,pfam_Glyco_trans_14	p.A135V	ENST00000017003.2	37	c.404	CCDS11563.1	17	.	.	.	.	.	.	.	.	.	.	C	14.14	2.448037	0.43429	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.11604	3.37;2.76	4.38	4.38	0.52667	.	0.203057	0.41938	D	0.000794	T	0.05868	0.0153	N	0.08118	0	0.34861	D	0.742589	B	0.17852	0.024	B	0.12156	0.007	T	0.30679	-0.9970	10	0.22109	T	0.4	-14.4865	12.948	0.58384	0.0:0.8372:0.1628:0.0	.	135	Q9H1B5	XYLT2_HUMAN	V	135	ENSP00000017003:A135V;ENSP00000426501:A135V	ENSP00000017003:A135V	A	+	2	0	XYLT2	45786258	0.386000	0.25180	0.907000	0.35723	0.895000	0.52256	1.827000	0.39102	2.286000	0.76751	0.313000	0.20887	GCA	XYLT2	-	NULL	ENSG00000015532		0.711	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT2	HGNC	protein_coding	OTTHUMT00000367046.1	-	0.00	19	0	C	NM_022167		48431259	+1	tier1	-	no_errors	ENST00000017003	ensembl	human	known	74_37	missense	42.86	12	9	SNP	0.811	T
XYLT2	64132	genome.wustl.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:48433967delC	ENST00000017003.2	+	8	1627	c.1578delC	c.(1576-1578)tacfs	p.Y526fs	XYLT2_ENST00000507602.1_Frame_Shift_Del_p.Y526fs	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	526					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATGGCAGCTACCCCCCCGGCA	0.602																																																	1	Insertion - Frameshift(1)	large_intestine(1)											65.0	65.0	65.0					17																	48433967		2203	4300	6503	SO:0001589	frameshift_variant	0			AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1578delC	17.37:g.48433967delC	ENSP00000017003:p.Tyr526fs		Q6UY41|Q86V00	Frame_Shift_Del	DEL	pfam_XylT,pfam_Glyco_trans_14	p.G529fs	ENST00000017003.2	37	c.1578	CCDS11563.1	17																																																																																			XYLT2	-	pfam_XylT	ENSG00000015532		0.602	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT2	HGNC	protein_coding	OTTHUMT00000367046.1		0.00	35	0	C	NM_022167		48433967	+1	tier1		no_errors	ENST00000017003	ensembl	human	known	74_37	frame_shift_del	62.50	9	15	DEL	1.000	-
YBEY	54059	genome.wustl.edu	37	21	47707039	47707040	+	Splice_Site	INS	-	-	AA	rs71318058|rs202070025|rs530846715|rs58271568		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr21:47707039_47707040insAA	ENST00000329319.3	+	2	608		c.e2+2		YBEY_ENST00000397692.1_Intron|YBEY_ENST00000397691.1_Splice_Site|YBEY_ENST00000397694.1_Intron|MCM3AP_ENST00000291688.1_5'Flank|YBEY_ENST00000397701.4_Splice_Site|YBEY_ENST00000339195.6_Splice_Site|MCM3AP_ENST00000397708.1_5'Flank	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)						rRNA processing (GO:0006364)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.?(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						TTTCATGAGGTAAAAAAAAAAT	0.351																																																	1	Unknown(1)	lung(1)																																								SO:0001630	splice_region_variant	0			AK294975	CCDS33591.1	21q22.3	2010-12-08	2010-12-08	2010-12-08	ENSG00000182362	ENSG00000182362			1299	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 57"""	C21orf57			Standard	XM_005261155		Approved		uc002ziv.3	P58557	OTTHUMG00000090632	ENST00000329319.3:c.210+2->AA	21.37:g.47707048_47707049dupAA			B7WPA9|B7WPF7|D3DSN2	Splice_Site	INS	-	e1+2	ENST00000329319.3	37	c.210+2_210+1	CCDS33591.1	21																																																																																			YBEY	-	-	ENSG00000182362		0.351	YBEY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBEY	HGNC	protein_coding	OTTHUMT00000207265.1		0.00	22	0	-	NM_058181	Intron	47707040	+1	tier1		no_errors	ENST00000329319	ensembl	human	known	74_37	splice_site_ins	11.43	31	4	INS	1.000:0.124	AA
YJEFN3	374887	genome.wustl.edu	37	19	19646460	19646460	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:19646460delC	ENST00000514277.4	+	6	704	c.666delC	c.(664-666)atcfs	p.I222fs	CTC-260F20.3_ENST00000555938.1_Frame_Shift_Del_p.I221fs|CILP2_ENST00000586018.1_5'Flank|CILP2_ENST00000291495.5_5'Flank|YJEFN3_ENST00000436027.5_Frame_Shift_Del_p.I172fs|YJEFN3_ENST00000608404.1_Frame_Shift_Del_p.I221fs	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	222	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						TGCTGTCCATCCCCCTCGTGA	0.731																																																	0																																										SO:0001589	frameshift_variant	0				CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.666delC	19.37:g.19646460delC	ENSP00000426964:p.Ile222fs		A6XGK9|Q4G1C0	Frame_Shift_Del	DEL	pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom	p.L224fs	ENST00000514277.4	37	c.666	CCDS42530.1	19																																																																																			YJEFN3	-	pfam_YjeF_N_dom,superfamily_YjeF_N_dom,tigrfam_YjeF_N_dom	ENSG00000250067		0.731	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	YJEFN3	HGNC	protein_coding	OTTHUMT00000368157.5		0.00	29	0	C	NM_198537		19646460	+1	tier1		no_errors	ENST00000514277	ensembl	human	known	74_37	frame_shift_del	28.00	18	7	DEL	1.000	-
YLPM1	56252	genome.wustl.edu	37	14	75248115	75248115	+	Nonsense_Mutation	SNP	C	C	T	rs564055671		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:75248115C>T	ENST00000552421.1	+	4	1493	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	YLPM1_ENST00000325680.7_Nonsense_Mutation_p.R457*|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGAATGGGAGCGAGAGTTTCA	0.428																																																	0													39.0	37.0	38.0					14																	75248115		1913	4136	6049	SO:0001587	stop_gained	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1369C>T	14.37:g.75248115C>T	ENSP00000447921:p.Arg457*		P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	superfamily_P-loop_NTPase	p.R457*	ENST00000552421.1	37	c.1369		14	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701403	0.88924	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000423680	.	.	.	5.81	2.9	0.33743	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5188	0.67838	0.5094:0.4906:0.0:0.0	.	.	.	.	X	457;457;170	.	ENSP00000324463:R457X	R	+	1	2	YLPM1	74317868	0.941000	0.31946	1.000000	0.80357	0.999000	0.98932	0.401000	0.20948	0.313000	0.23062	0.591000	0.81541	CGA	YLPM1	-	NULL	ENSG00000119596		0.428	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	-	0.00	53	0	C	NM_019589		75248115	+1	tier1	-	no_errors	ENST00000325680	ensembl	human	known	74_37	nonsense	50.00	29	29	SNP	0.974	T
YY1	7528	genome.wustl.edu	37	14	100728643	100728644	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:100728643_100728644insA	ENST00000262238.4	+	2	942_943	c.682_683insA	c.(682-684)gaafs	p.E228fs	RP11-638I2.2_ENST00000555212.1_RNA	NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	228					anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|cell differentiation (GO:0030154)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromosome organization (GO:0051276)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to prostaglandin F (GO:0034696)|response to UV-C (GO:0010225)|RNA localization (GO:0006403)|spermatogenesis (GO:0007283)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|four-way junction DNA binding (GO:0000400)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				TGTTTCAGATGAAAAAAAAGAT	0.327																																																	0																																										SO:0001589	frameshift_variant	0			BC020324	CCDS9957.1	14q	2013-01-08			ENSG00000100811	ENSG00000100811		"""INO80 complex subunits"", ""Zinc fingers, C2H2-type"""	12856	protein-coding gene	gene with protein product	"""INO80 complex subunit S"", ""Yin and Yang 1 protein"""	600013				1655281, 7912122	Standard	NM_003403		Approved	NF-E1, DELTA, UCRBP, YIN-YANG-1, INO80S	uc001ygy.2	P25490	OTTHUMG00000150479	ENST00000262238.4:c.690dupA	14.37:g.100728651_100728651dupA	ENSP00000262238:p.Glu228fs		Q14935	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.D231fs	ENST00000262238.4	37	c.682_683	CCDS9957.1	14																																																																																			YY1	-	pirsf_TF_Yin_yang	ENSG00000100811		0.327	YY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY1	HGNC	protein_coding	OTTHUMT00000318277.1		0.00	55	0	-	NM_003403		100728644	+1	tier1		no_errors	ENST00000262238	ensembl	human	known	74_37	frame_shift_ins	37.93	36	22	INS	1.000:1.000	A
ZAK	51776	genome.wustl.edu	37	2	174062830	174062830	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:174062830delA	ENST00000375213.3	+	8	737	c.659delA	c.(658-660)gaafs	p.E220fs	MLTK_ENST00000539448.1_Frame_Shift_Del_p.E220fs|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000338983.3_Frame_Shift_Del_p.E220fs|MLTK_ENST00000431503.2_Frame_Shift_Del_p.E119fs|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Frame_Shift_Del_p.E220fs	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										CTTGTAGTGGAAAAAAACGAG	0.383																																																	0													115.0	124.0	121.0					2																	174062830		2203	4300	6503	SO:0001589	frameshift_variant	0																														ENST00000375213.3:c.659delA	2.37:g.174062830delA	ENSP00000364361:p.Glu220fs		B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N222fs	ENST00000375213.3	37	c.659	CCDS42777.1	2																																																																																			MLTK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000091436		0.383	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAK	Uniprot_gn	protein_coding	OTTHUMT00000255401.1		0.00	63	0	A			174062830	+1	tier1		no_errors	ENST00000375213	ensembl	human	known	74_37	frame_shift_del	40.54	44	30	DEL	1.000	-
ZAN	7455	genome.wustl.edu	37	7	100350086	100350086	+	RNA	SNP	A	A	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:100350086A>C	ENST00000348028.3	+	0	2523				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACAGAAAAACCCACCATTC	0.542																																																	0													195.0	221.0	213.0					7																	100350086		1865	4088	5953			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350086A>C			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.K786N	ENST00000348028.3	37	c.2358		7	.	.	.	.	.	.	.	.	.	.	a	9.780	1.174934	0.21704	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.71934	-0.61;-0.34;-0.61	3.68	-3.53	0.04667	.	.	.	.	.	T	0.56891	0.2016	L	0.43923	1.385	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.002	T	0.49390	-0.8945	9	0.66056	D	0.02	.	5.8999	0.18960	0.604:0.0:0.2496:0.1463	.	786;786	F5H0T8;Q9Y493	.;ZAN_HUMAN	N	786	ENSP00000445943:K786N;ENSP00000445091:K786N;ENSP00000444427:K786N	ENSP00000423579:K786N	K	+	3	2	ZAN	100188022	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-9.315000	0.00012	-0.761000	0.04670	-1.007000	0.02485	AAA	ZAN	-	NULL	ENSG00000146839		0.542	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	-	0.00	48	0	A	NM_003386		100350086	+1	tier1	-	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	46.15	28	24	SNP	0.000	C
ZAP70	7535	genome.wustl.edu	37	2	98351785	98351785	+	Silent	SNP	C	C	T	rs193922633		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:98351785C>T	ENST00000264972.5	+	10	1370	c.1155C>T	c.(1153-1155)cgC>cgT	p.R385R	ZAP70_ENST00000451498.2_Silent_p.R78R|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.R259R	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	385	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AGATGATGCGCGAGGCGCAGA	0.642																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	154.0	126.0	136.0		1155,234	-11.3	0.0	2		136	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZAP70	NM_001079.3,NM_207519.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	385/620,78/313	98351785	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1155C>T	2.37:g.98351785C>T			A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.R385	ENST00000264972.5	37	c.1155	CCDS33254.1	2																																																																																			ZAP70	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom	ENSG00000115085		0.642	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	HGNC	protein_coding	OTTHUMT00000329278.1	-	0.00	62	0	C			98351785	+1	tier1	rs193922633	no_errors	ENST00000264972	ensembl	human	known	74_37	silent	35.14	24	13	SNP	0.000	T
ZBTB17	7709	genome.wustl.edu	37	1	16269019	16269019	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:16269019C>T	ENST00000375743.4	-	14	2271				ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000375733.2_Intron	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCACAGCCCGCACCTGTGA	0.657																																																	0													49.0	47.0	48.0					1																	16269019		2203	4299	6502	SO:0001627	intron_variant	0			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.2038+4G>A	1.37:g.16269019C>T			A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	RNA	SNP	-	NULL	ENST00000375743.4	37	NULL	CCDS165.1	1																																																																																			ZBTB17	-	-	ENSG00000116809		0.657	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	-	0.00	46	0	C	NM_003443		16269019	-1	tier1	-	no_errors	ENST00000462525	ensembl	human	known	74_37	rna	31.71	28	13	SNP	0.091	T
ZBTB20	26137	genome.wustl.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:114058003delG	ENST00000474710.1	-	5	2253	c.2075delC	c.(2074-2076)cctfs	p.P692fs	ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000462705.1_Frame_Shift_Del_p.P619fs	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632																																					NSCLC(69;748 1344 9802 11203 30933)												1	Deletion - Frameshift(1)	large_intestine(1)											56.0	55.0	55.0					3																	114058003		2203	4300	6503	SO:0001589	frameshift_variant	0			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.2075delC	3.37:g.114058003delG	ENSP00000419153:p.Pro692fs		Q63HP6|Q8N6R5|Q9Y410	Frame_Shift_Del	DEL	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P692fs	ENST00000474710.1	37	c.2075	CCDS54626.1	3																																																																																			ZBTB20	-	NULL	ENSG00000181722		0.632	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1		0.00	69	0	G	NM_015642		114058003	-1	tier1		no_errors	ENST00000474710	ensembl	human	known	74_37	frame_shift_del	48.21	29	27	DEL	0.678	-
ZBTB20	26137	genome.wustl.edu	37	3	114070354	114070354	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:114070354G>A	ENST00000474710.1	-	4	749	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	ZBTB20_ENST00000481632.1_Missense_Mutation_p.R118C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R118C|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R118C|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R118C|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R118C|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000462705.1_Missense_Mutation_p.R118C|ZBTB20-AS1_ENST00000467304.1_RNA	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	191						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GACACGATGCGCGTGCACTCG	0.642																																					NSCLC(69;748 1344 9802 11203 30933)												0													75.0	60.0	65.0					3																	114070354		2203	4300	6503	SO:0001583	missense	0			AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.571C>T	3.37:g.114070354G>A	ENSP00000419153:p.Arg191Cys		Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R191C	ENST00000474710.1	37	c.571	CCDS54626.1	3	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295464	0.60086	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560	T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.19	5.19	0.71726	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.77377	0.4121	L	0.50919	1.6	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78795	-0.2064	10	0.87932	D	0	.	14.7427	0.69467	0.0:0.0:0.8465:0.1535	.	191	Q9HC78	ZBT20_HUMAN	C	118;118;118;118;191;118;118	ENSP00000420324:R118C;ENSP00000377375:R118C;ENSP00000418092:R118C;ENSP00000419902:R118C;ENSP00000419153:R191C;ENSP00000349803:R118C;ENSP00000417307:R118C	ENSP00000349803:R118C	R	-	1	0	ZBTB20	115553044	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.860000	0.62961	2.706000	0.92434	0.650000	0.86243	CGC	ZBTB20	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000181722		0.642	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	ZBTB20	HGNC	protein_coding	OTTHUMT00000354951.1	-	0.00	33	0	G	NM_015642		114070354	-1	tier1	-	no_errors	ENST00000474710	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.997	A
ZBTB22	9278	genome.wustl.edu	37	6	33283669	33283669	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:33283669delC	ENST00000431845.2	-	2	1176	c.1025delG	c.(1024-1026)ggtfs	p.G342fs	TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Frame_Shift_Del_p.G342fs|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CCTGGAGCTACCCCCTAGTTC	0.587																																																	0													98.0	80.0	86.0					6																	33283669		2203	4300	6503	SO:0001589	frameshift_variant	0			Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1025delG	6.37:g.33283669delC	ENSP00000407545:p.Gly342fs		B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Frame_Shift_Del	DEL	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G342fs	ENST00000431845.2	37	c.1025	CCDS4775.1	6																																																																																			ZBTB22	-	NULL	ENSG00000236104		0.587	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	HGNC	protein_coding	OTTHUMT00000076183.2		0.00	48	0	C			33283669	-1	tier1		no_errors	ENST00000418724	ensembl	human	known	74_37	frame_shift_del	33.33	16	8	DEL	0.026	-
ZBTB3	79842	genome.wustl.edu	37	11	62521141	62521141	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:62521141C>T	ENST00000394807.3	-	2	271	c.146G>A	c.(145-147)gGt>gAt	p.G49D		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	49					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						CTCCATAGTACCCCACGAAGG	0.562																																																	0													27.0	30.0	29.0					11																	62521141		2196	4294	6490	SO:0001583	missense	0			AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.146G>A	11.37:g.62521141C>T	ENSP00000378286:p.Gly49Asp			Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G49D	ENST00000394807.3	37	c.146	CCDS8034.1	11	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760539	0.31137	.	.	ENSG00000185670	ENST00000394807	T	0.12147	2.71	5.85	2.74	0.32292	BTB/POZ fold (1);	0.613511	0.14811	N	0.297061	T	0.07234	0.0183	N	0.14661	0.345	0.24514	N	0.994191	B	0.11235	0.004	B	0.09377	0.004	T	0.31475	-0.9942	10	0.35671	T	0.21	.	5.4173	0.16380	0.0:0.6428:0.1618:0.1953	.	49	Q9H5J0	ZBTB3_HUMAN	D	49	ENSP00000378286:G49D	ENSP00000378286:G49D	G	-	2	0	ZBTB3	62277717	0.185000	0.23213	1.000000	0.80357	0.980000	0.70556	-0.021000	0.12504	0.728000	0.32382	0.561000	0.74099	GGT	ZBTB3	-	superfamily_BTB/POZ_fold	ENSG00000185670		0.562	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB3	HGNC	protein_coding	OTTHUMT00000395342.1		0.00	12	0	C	NM_024784		62521141	-1			no_errors	ENST00000394807	ensembl	human	known	74_37	missense	41.67	7	5	SNP	1.000	T
ZBTB38	253461	genome.wustl.edu	37	3	141164136	141164136	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:141164136A>G	ENST00000514251.1	+	4	3185	c.2906A>G	c.(2905-2907)aAa>aGa	p.K969R	ZBTB38_ENST00000321464.5_Missense_Mutation_p.K970R|ZBTB38_ENST00000441582.2_Missense_Mutation_p.K969R					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CCTCAGGATAAACCCTTTGAG	0.522																																																	0													30.0	31.0	31.0					3																	141164136		1914	4135	6049	SO:0001583	missense	0			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2906A>G	3.37:g.141164136A>G	ENSP00000426387:p.Lys969Arg			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K970R	ENST00000514251.1	37	c.2909	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	A	8.428	0.848062	0.17034	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.10288	2.89;2.89;2.9	5.65	3.31	0.37934	.	0.334109	0.26457	N	0.024277	T	0.06462	0.0166	L	0.27053	0.805	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.09377	0.004;0.004	T	0.35649	-0.9780	9	.	.	.	-14.123	5.5671	0.17177	0.7071:0.1458:0.147:0.0	.	970;969	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	R	969;969;970	ENSP00000426387:K969R;ENSP00000406955:K969R;ENSP00000372635:K970R	.	K	+	2	0	ZBTB38	142646826	0.994000	0.37717	0.773000	0.31616	0.111000	0.19643	3.317000	0.51968	0.982000	0.38575	0.528000	0.53228	AAA	ZBTB38	-	NULL	ENSG00000177311		0.522	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	-	0.00	18	0	A			141164136	+1	tier1	-	no_errors	ENST00000321464	ensembl	human	known	74_37	missense	44.44	5	4	SNP	0.060	G
ZBTB7B	51043	genome.wustl.edu	37	1	154987852	154987852	+	Missense_Mutation	SNP	C	C	T	rs372544089		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:154987852C>T	ENST00000368426.3	+	3	853	c.716C>T	c.(715-717)gCg>gTg	p.A239V	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.A239V|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.A239V|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.A273V	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	239					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGGAGGTGGCGGGCAGAGTG	0.652																																																	0								C	VAL/ALA	0,4406		0,0,2203	20.0	23.0	22.0		716	0.9	0.0	1		22	1,8595		0,1,4297	no	missense	ZBTB7B	NM_015872.2	64	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	239/540	154987852	1,13001	2203	4298	6501	SO:0001583	missense	0			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.716C>T	1.37:g.154987852C>T	ENSP00000357411:p.Ala239Val		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A273V	ENST00000368426.3	37	c.818	CCDS1081.1	1	.	.	.	.	.	.	.	.	.	.	C	4.154	0.027027	0.08054	0.0	1.16E-4	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.09255	3.03;3.03;3.0;3.03	4.15	0.893	0.19236	.	1.305210	0.05217	N	0.507890	T	0.01523	0.0049	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46582	-0.9181	10	0.24483	T	0.36	.	6.6	0.22695	0.0:0.4712:0.0:0.5288	.	239;239;273	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	V	239;239;273;239	ENSP00000438647:A239V;ENSP00000357411:A239V;ENSP00000406286:A273V;ENSP00000292176:A239V	ENSP00000292176:A239V	A	+	2	0	ZBTB7B	153254476	0.000000	0.05858	0.001000	0.08648	0.114000	0.19823	0.024000	0.13555	-0.010000	0.14271	-0.362000	0.07510	GCG	ZBTB7B	-	NULL	ENSG00000160685		0.652	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	HGNC	protein_coding	OTTHUMT00000091083.1		0.00	21	0	C	NM_015872		154987852	+1			no_errors	ENST00000417934	ensembl	human	known	74_37	missense	27.27	8	3	SNP	0.000	T
ZBTB7C	201501	genome.wustl.edu	37	18	45566519	45566519	+	Frame_Shift_Del	DEL	C	C	-	rs113275715		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:45566519delC	ENST00000588982.1	-	3	1461	c.960delG	c.(958-960)gggfs	p.G320fs	ZBTB7C_ENST00000535628.2_Frame_Shift_Del_p.G320fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Del_p.G320fs|ZBTB7C_ENST00000590800.1_Frame_Shift_Del_p.G320fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Del_p.G320fs			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	320	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTCCCAGAGGCCCCCCCGGCA	0.627																																																	0													53.0	57.0	56.0					18																	45566519		2203	4300	6503	SO:0001589	frameshift_variant	0			Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.960delG	18.37:g.45566519delC	ENSP00000468782:p.Gly320fs		O73453	Frame_Shift_Del	DEL	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P321fs	ENST00000588982.1	37	c.960	CCDS32830.1	18																																																																																			ZBTB7C	-	NULL	ENSG00000184828		0.627	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB7C	HGNC	protein_coding	OTTHUMT00000450731.1		0.00	66	0	C	NM_001039360		45566519	-1	tier1		no_errors	ENST00000332053	ensembl	human	known	74_37	frame_shift_del	30.77	27	12	DEL	0.989	-
ZC3H18	124245	genome.wustl.edu	37	16	88665107	88665107	+	Missense_Mutation	SNP	G	G	A	rs369341569		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:88665107G>A	ENST00000301011.5	+	5	1117	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R330Q	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	306						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CGAGGACTCCGGCATGCAAAG	0.507																																					Ovarian(121;375 2276 20373 38669)												0								G	GLN/ARG	0,4396		0,0,2198	31.0	30.0	30.0		917	4.9	1.0	16		30	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZC3H18	NM_144604.3	43	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	306/954	88665107	1,12995	2198	4300	6498	SO:0001583	missense	0			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.917G>A	16.37:g.88665107G>A	ENSP00000301011:p.Arg306Gln		Q96DG4|Q96MP7	Missense_Mutation	SNP	smart_Znf_CCCH	p.R306Q	ENST00000301011.5	37	c.917	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536027	0.85812	0.0	1.16E-4	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.79141	-1.24;-1.2	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.86435	0.5932	M	0.63843	1.955	0.58432	D	0.999998	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.83275	0.996;0.99;0.996	D	0.87941	0.2717	10	0.87932	D	0	-20.2028	16.5273	0.84334	0.0:0.0:1.0:0.0	.	330;330;306	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	Q	306;330;330;189	ENSP00000301011:R306Q;ENSP00000416951:R330Q	ENSP00000289509:R330Q	R	+	2	0	ZC3H18	87192608	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.733000	0.91539	2.398000	0.81561	0.561000	0.74099	CGG	ZC3H18	-	NULL	ENSG00000158545		0.507	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	-	0.00	34	0	G	NM_144604		88665107	+1	tier1	-	no_errors	ENST00000301011	ensembl	human	known	74_37	missense	21.88	25	7	SNP	1.000	A
ZC3H6	376940	genome.wustl.edu	37	2	113067570	113067570	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:113067570G>T	ENST00000409871.1	+	4	846	c.445G>T	c.(445-447)Ggt>Tgt	p.G149C	ZC3H6_ENST00000343936.4_Missense_Mutation_p.G149C	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	149							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TGACAACTTCGGTAACTACAG	0.363																																																	0													77.0	70.0	72.0					2																	113067570		1873	4110	5983	SO:0001583	missense	0			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.445G>T	2.37:g.113067570G>T	ENSP00000386764:p.Gly149Cys		A9JR71|Q6ZW96	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.G149C	ENST00000409871.1	37	c.445	CCDS46393.1	2	.	.	.	.	.	.	.	.	.	.	G	19.83	3.901084	0.72754	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.15372	2.43;2.43	5.86	5.86	0.93980	.	0.368929	0.29383	N	0.012306	T	0.11836	0.0288	N	0.08118	0	0.50467	D	0.999878	B	0.28820	0.224	B	0.27715	0.082	T	0.16453	-1.0402	10	0.56958	D	0.05	-13.8078	18.3634	0.90383	0.0:0.0:1.0:0.0	.	149	P61129	ZC3H6_HUMAN	C	149;149;126	ENSP00000386764:G149C;ENSP00000340298:G149C	ENSP00000340298:G149C	G	+	1	0	ZC3H6	112784041	1.000000	0.71417	0.966000	0.40874	0.996000	0.88848	7.727000	0.84838	2.767000	0.95098	0.561000	0.74099	GGT	ZC3H6	-	NULL	ENSG00000188177		0.363	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1		0.00	37	0	G	NM_198581		113067570	+1			no_errors	ENST00000343936	ensembl	human	known	74_37	missense	6.67	42	3	SNP	0.999	T
ZC3HAV1	56829	genome.wustl.edu	37	7	138764917	138764917	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:138764917C>T	ENST00000242351.5	-	4	1086	c.770G>A	c.(769-771)aGc>aAc	p.S257N	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S257N|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.S257N	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	257					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						AAATTCTTGGCTGCCCTGAAA	0.507																																																	0													155.0	165.0	161.0					7																	138764917		2203	4300	6503	SO:0001583	missense	0			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.770G>A	7.37:g.138764917C>T	ENSP00000242351:p.Ser257Asn		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S257N	ENST00000242351.5	37	c.770	CCDS5851.1	7	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660530	0.47572	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	T;T;T	0.33438	1.41;1.41;1.41	4.41	-1.16	0.09678	.	0.896444	0.09543	N	0.788049	T	0.38427	0.1040	L	0.52573	1.65	0.09310	N	1	D;P	0.76494	0.999;0.879	D;B	0.64877	0.93;0.35	T	0.27054	-1.0085	10	0.72032	D	0.01	.	1.4007	0.02270	0.1622:0.3271:0.3173:0.1934	.	257;257	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	N	257;257;257;17	ENSP00000242351:S257N;ENSP00000418385:S257N;ENSP00000419855:S257N	ENSP00000242351:S257N	S	-	2	0	ZC3HAV1	138415457	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	-1.346000	0.02634	-0.043000	0.13513	0.655000	0.94253	AGC	ZC3HAV1	-	NULL	ENSG00000105939		0.507	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1	-	0.00	58	0	C	NM_020119		138764917	-1	tier1	-	no_errors	ENST00000242351	ensembl	human	known	74_37	missense	47.92	25	23	SNP	0.000	T
ZC3HC1	51530	genome.wustl.edu	37	7	129688937	129688937	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:129688937G>A	ENST00000358303.4	-	2	278	c.194C>T	c.(193-195)gCg>gTg	p.A65V	ZC3HC1_ENST00000481503.1_Missense_Mutation_p.A65V|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.A65V|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.A44V	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	65					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AGGTTGTTCCGCTTGGGGTGA	0.408																																					Melanoma(115;540 1606 16325 28853 48167)												0													193.0	178.0	183.0					7																	129688937		2203	4300	6503	SO:0001583	missense	0			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.194C>T	7.37:g.129688937G>A	ENSP00000351052:p.Ala65Val		A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	pfam_Znf_C3HC-like,pfam_NIPA/Rsm1	p.A65V	ENST00000358303.4	37	c.194	CCDS34753.1	7	.	.	.	.	.	.	.	.	.	.	g	2.720	-0.266844	0.05754	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503;ENST00000480193	T;T;T;T	0.48836	1.43;0.84;1.45;0.8	5.72	1.77	0.24775	.	0.865763	0.10107	N	0.715187	T	0.28928	0.0718	N	0.24115	0.695	0.21473	N	0.999674	B	0.24426	0.103	B	0.13407	0.009	T	0.22765	-1.0207	10	0.51188	T	0.08	-0.2497	2.932	0.05802	0.2103:0.1231:0.5398:0.1269	.	65	Q86WB0	NIPA_HUMAN	V	65;65;44;65;65	ENSP00000351052:A65V;ENSP00000353933:A65V;ENSP00000309301:A44V;ENSP00000418533:A65V	ENSP00000309301:A44V	A	-	2	0	ZC3HC1	129476173	0.274000	0.24191	0.459000	0.27081	0.401000	0.30781	0.486000	0.22340	0.050000	0.15949	-0.967000	0.02615	GCG	ZC3HC1	-	NULL	ENSG00000091732		0.408	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HC1	HGNC	protein_coding	OTTHUMT00000349316.1	-	0.00	79	0	G	NM_016478		129688937	-1	tier1	-	no_errors	ENST00000358303	ensembl	human	known	74_37	missense	37.80	51	31	SNP	0.967	A
ZC3HAV1	56829	genome.wustl.edu	37	7	138774372	138774372	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:138774372C>T	ENST00000242351.5	-	2	758	c.442G>A	c.(442-444)Gag>Aag	p.E148K	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.E148K|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.E148K	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	148	N-terminal domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CAACTTACCTCGGGCATAAAA	0.393																																																	0													95.0	86.0	89.0					7																	138774372		2203	4300	6503	SO:0001583	missense	0			BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.442G>A	7.37:g.138774372C>T	ENSP00000242351:p.Glu148Lys		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E148K	ENST00000242351.5	37	c.442	CCDS5851.1	7	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317334	0.81469	.	.	ENSG00000105939	ENST00000242351;ENST00000464606;ENST00000471652	T;T;T	0.43294	0.95;0.95;0.95	4.21	4.21	0.49690	.	0.146160	0.31772	N	0.007100	T	0.61887	0.2383	M	0.79123	2.44	0.37589	D	0.920127	D;D	0.76494	0.999;0.999	D;D	0.67548	0.941;0.952	T	0.70299	-0.4910	10	0.66056	D	0.02	.	12.2544	0.54615	0.0:1.0:0.0:0.0	.	148;148	Q7Z2W4-2;Q7Z2W4	.;ZCCHV_HUMAN	K	148	ENSP00000242351:E148K;ENSP00000418385:E148K;ENSP00000419855:E148K	ENSP00000242351:E148K	E	-	1	0	ZC3HAV1	138424912	0.995000	0.38212	0.988000	0.46212	0.983000	0.72400	4.092000	0.57707	2.337000	0.79520	0.650000	0.86243	GAG	ZC3HAV1	-	NULL	ENSG00000105939		0.393	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HAV1	HGNC	protein_coding	OTTHUMT00000348915.1	-	0.00	23	0	C	NM_020119		138774372	-1	tier1	-	no_errors	ENST00000242351	ensembl	human	known	74_37	missense	47.62	11	10	SNP	0.995	T
ZDBF2	57683	genome.wustl.edu	37	2	207172739	207172739	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:207172739G>T	ENST00000374423.3	+	5	3873	c.3487G>T	c.(3487-3489)Gat>Tat	p.D1163Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1163							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATGAATTTGGATTCTGGTTT	0.373																																																	0													96.0	91.0	93.0					2																	207172739		1849	4095	5944	SO:0001583	missense	0			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3487G>T	2.37:g.207172739G>T	ENSP00000363545:p.Asp1163Tyr		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.D1163Y	ENST00000374423.3	37	c.3487	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933519	0.34096	.	.	ENSG00000204186	ENST00000374423	T	0.64803	-0.12	4.04	0.161	0.14977	.	.	.	.	.	T	0.66147	0.2760	L	0.48642	1.525	0.09310	N	1	D	0.89917	1.0	D	0.68765	0.96	T	0.53690	-0.8403	9	0.72032	D	0.01	.	3.847	0.08939	0.3253:0.2068:0.4679:0.0	.	1163	Q9HCK1	ZDBF2_HUMAN	Y	1163	ENSP00000363545:D1163Y	ENSP00000363545:D1163Y	D	+	1	0	ZDBF2	206880984	0.949000	0.32298	0.009000	0.14445	0.002000	0.02628	-0.097000	0.11042	0.008000	0.14787	-0.145000	0.13849	GAT	ZDBF2	-	NULL	ENSG00000204186		0.373	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	-	0.00	41	0	G	NM_020923		207172739	+1	tier1	-	no_errors	ENST00000374423	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.014	T
ZDHHC14	79683	genome.wustl.edu	37	6	157963736	157963736	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:157963736G>A	ENST00000359775.5	+	2	1254	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.R122Q			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	122					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		GTCCTCCCACGAGCCACGCCT	0.597																																																	0													27.0	29.0	28.0					6																	157963736		2203	4296	6499	SO:0001583	missense	0			AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.365G>A	6.37:g.157963736G>A	ENSP00000352821:p.Arg122Gln		A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.R122Q	ENST00000359775.5	37	c.365	CCDS5252.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.499355	0.96355	.	.	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.25912	1.77;1.77	4.89	4.89	0.63831	.	0.138279	0.47455	D	0.000238	T	0.52354	0.1729	M	0.91663	3.23	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.997	T	0.66329	-0.5951	10	0.87932	D	0	-5.6986	18.4042	0.90528	0.0:0.0:1.0:0.0	.	126;122;122	A4FVA9;Q8IZN3;Q8IZN3-2	.;ZDH14_HUMAN;.	Q	122;122;126	ENSP00000352821:R122Q;ENSP00000410713:R122Q	ENSP00000352821:R122Q	R	+	2	0	ZDHHC14	157883724	1.000000	0.71417	0.951000	0.38953	0.918000	0.54935	9.235000	0.95353	0.011000	0.14865	-0.274000	0.10170	CGA	ZDHHC14	-	NULL	ENSG00000175048		0.597	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC14	HGNC	protein_coding	OTTHUMT00000042841.2	-	0.00	32	0	G	NM_153746		157963736	+1	tier1	-	no_errors	ENST00000359775	ensembl	human	known	74_37	missense	38.10	26	16	SNP	0.992	A
ZDHHC15	158866	genome.wustl.edu	37	X	74636973	74636973	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:74636973G>T	ENST00000373367.3	-	10	1146	c.916C>A	c.(916-918)Cca>Aca	p.P306T	ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000541184.1_Missense_Mutation_p.P297T	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	306					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GCTAGCAGTGGGTTCTGTGAC	0.448																																																	0													258.0	209.0	225.0					X																	74636973		2203	4300	6503	SO:0001583	missense	0			AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.916C>A	X.37:g.74636973G>T	ENSP00000362465:p.Pro306Thr		B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.P306T	ENST00000373367.3	37	c.916	CCDS14430.1	X	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554136	0.27739	.	.	ENSG00000102383	ENST00000373367;ENST00000541184	T;T	0.41758	0.99;1.21	5.43	5.43	0.79202	.	0.154836	0.64402	D	0.000015	T	0.39600	0.1084	M	0.70275	2.135	0.80722	D	1	B;P	0.48764	0.342;0.915	B;B	0.36666	0.039;0.23	T	0.41179	-0.9523	10	0.14252	T	0.57	0.7684	16.7653	0.85522	0.0:0.0:1.0:0.0	.	297;306	B3KVG7;Q96MV8	.;ZDH15_HUMAN	T	306;297	ENSP00000362465:P306T;ENSP00000445420:P297T	ENSP00000362465:P306T	P	-	1	0	ZDHHC15	74553698	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.226000	0.89785	2.268000	0.75426	0.513000	0.50165	CCA	ZDHHC15	-	NULL	ENSG00000102383		0.448	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC15	HGNC	protein_coding	OTTHUMT00000057283.1	-	0.00	53	0	G	NM_144969		74636973	-1	tier1	-	no_errors	ENST00000373367	ensembl	human	known	74_37	missense	82.00	9	41	SNP	1.000	T
ZDHHC15	158866	genome.wustl.edu	37	X	74636981	74636981	+	Nonsense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:74636981G>T	ENST00000373367.3	-	10	1138	c.908C>A	c.(907-909)tCa>tAa	p.S303*	ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000541184.1_Nonsense_Mutation_p.S294*	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	303					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						TGGGTTCTGTGACTCATTCAT	0.458																																																	0													242.0	197.0	212.0					X																	74636981		2203	4300	6503	SO:0001587	stop_gained	0			AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.908C>A	X.37:g.74636981G>T	ENSP00000362465:p.Ser303*		B3KVG7|Q3SY30|Q6UWH3	Nonsense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.S303*	ENST00000373367.3	37	c.908	CCDS14430.1	X	.	.	.	.	.	.	.	.	.	.	G	42	9.383805	0.99155	.	.	ENSG00000102383	ENST00000373367;ENST00000541184	.	.	.	5.43	5.43	0.79202	.	0.055610	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-0.7831	16.7653	0.85522	0.0:0.0:1.0:0.0	.	.	.	.	X	303;294	.	ENSP00000362465:S303X	S	-	2	0	ZDHHC15	74553706	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	6.307000	0.72815	2.268000	0.75426	0.513000	0.50165	TCA	ZDHHC15	-	NULL	ENSG00000102383		0.458	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC15	HGNC	protein_coding	OTTHUMT00000057283.1	-	0.00	51	0	G	NM_144969		74636981	-1	tier1	-	no_errors	ENST00000373367	ensembl	human	known	74_37	nonsense	9.09	40	4	SNP	1.000	T
ZDHHC3	51304	genome.wustl.edu	37	3	45000845	45000845	+	Frame_Shift_Del	DEL	G	G	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:45000845delG	ENST00000424952.2	-	2	352	c.84delC	c.(82-84)cccfs	p.P28fs	ZDHHC3_ENST00000296127.3_Frame_Shift_Del_p.P28fs|ZDHHC3_ENST00000342790.4_Frame_Shift_Del_p.P28fs	NM_001135179.1	NP_001128651.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	28					protein palmitoylation (GO:0018345)|protein targeting (GO:0006605)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GACCAGGGTAGGGGGGTGGGA	0.542																																																	0													112.0	115.0	114.0					3																	45000845		2203	4300	6503	SO:0001589	frameshift_variant	0			AF247703	CCDS2724.1, CCDS46811.1	3p21.31	2010-02-09			ENSG00000163812	ENSG00000163812		"""Zinc fingers, DHHC-type"""	18470	protein-coding gene	gene with protein product	"""golgi-specific DHHC Zinc Finger Protein"""					19955568	Standard	NM_016598		Approved	ZNF373, GODZ	uc003cod.3	Q9NYG2	OTTHUMG00000133093	ENST00000424952.2:c.84delC	3.37:g.45000845delG	ENSP00000395502:p.Pro28fs		Q53A17|Q96BL0	Frame_Shift_Del	DEL	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.Y29fs	ENST00000424952.2	37	c.84	CCDS46811.1	3																																																																																			ZDHHC3	-	NULL	ENSG00000163812		0.542	ZDHHC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC3	HGNC	protein_coding	OTTHUMT00000347004.1		0.00	40	0	G	NM_016598		45000845	-1	tier1		no_errors	ENST00000296127	ensembl	human	known	74_37	frame_shift_del	46.15	14	12	DEL	0.665	-
ZDHHC19	131540	genome.wustl.edu	37	3	195934356	195934356	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:195934356G>A	ENST00000296326.3	-	5	679	c.600C>T	c.(598-600)tcC>tcT	p.S200S	ZDHHC19_ENST00000488508.1_5'Flank	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	200						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GGCCCGCGGCGGACACGGCCA	0.756																																																	0													10.0	15.0	14.0					3																	195934356		2090	4157	6247	SO:0001819	synonymous_variant	0			BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.600C>T	3.37:g.195934356G>A			A8MSY6|B3KVI1	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.S200	ENST00000296326.3	37	c.600	CCDS43190.1	3																																																																																			ZDHHC19	-	NULL	ENSG00000163958		0.756	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZDHHC19	HGNC	protein_coding	OTTHUMT00000341533.1	-	0.00	24	0	G	NM_144637		195934356	-1	tier1	-	no_errors	ENST00000296326	ensembl	human	known	74_37	silent	58.33	10	14	SNP	0.316	A
ZDHHC7	55625	genome.wustl.edu	37	16	85010039	85010039	+	Frame_Shift_Del	DEL	G	G	-	rs531874653		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:85010039delG	ENST00000313732.4	-	8	1189	c.837delC	c.(835-837)cccfs	p.P279fs	ZDHHC7_ENST00000569488.1_5'Flank|ZDHHC7_ENST00000564466.1_Frame_Shift_Del_p.P316fs	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	279					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S280fs*5(1)		large_intestine(6)|lung(4)	10						AGAGGAGTGAGGGGGGCCCCC	0.587																																																	1	Deletion - Frameshift(1)	large_intestine(1)											48.0	59.0	55.0					16																	85010039		2199	4300	6499	SO:0001589	frameshift_variant	0			AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"""Zinc fingers, DHHC-type"""	18459	protein-coding gene	gene with protein product	"""Sertoli cell gene with zinc finger domain-&#946;"""	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.837delC	16.37:g.85010039delG	ENSP00000315604:p.Pro279fs		D3DUM1|Q8WV42|Q9NVD8	Frame_Shift_Del	DEL	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.S317fs	ENST00000313732.4	37	c.948	CCDS10950.1	16																																																																																			ZDHHC7	-	NULL	ENSG00000153786		0.587	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC7	HGNC	protein_coding	OTTHUMT00000269087.1		0.00	36	0	G	NM_017740		85010039	-1	tier1		no_errors	ENST00000344861	ensembl	human	known	74_37	frame_shift_del	27.27	16	6	DEL	0.902	-
ZFAND4	93550	genome.wustl.edu	37	10	46121400	46121400	+	Splice_Site	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:46121400delA	ENST00000344646.5	-	7	2086	c.1871delT	c.(1870-1872)ttg>tg	p.L624fs	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374366.3_Splice_Site_p.L550fs	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	624							zinc ion binding (GO:0008270)										AATACTGACCAAAAAAACTCC	0.358																																																	0													41.0	43.0	42.0					10																	46121400		2203	4300	6503	SO:0001630	splice_region_variant	0			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1872+1T>-	10.37:g.46121400delA			A8K8V4|B2RAX2|Q5VVY5	Frame_Shift_Del	DEL	pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.L624fs	ENST00000344646.5	37	c.1871	CCDS7214.1	10																																																																																			ZFAND4	-	NULL	ENSG00000172671		0.358	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1		0.00	19	0	A	NM_174890	Frame_Shift_Del	46121400	-1	tier1		no_errors	ENST00000344646	ensembl	human	known	74_37	frame_shift_del	45.71	19	16	DEL	0.871	-
ZFAT	57623	genome.wustl.edu	37	8	135614876	135614878	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:135614876_135614878delCTT	ENST00000377838.3	-	6	1258_1260	c.1084_1086delAAG	c.(1084-1086)aagdel	p.K362del	ZFAT_ENST00000520727.1_In_Frame_Del_p.K350del|ZFAT_ENST00000520356.1_In_Frame_Del_p.K350del|ZFAT_ENST00000520214.1_In_Frame_Del_p.K350del|ZFAT_ENST00000429442.2_In_Frame_Del_p.K350del|ZFAT_ENST00000523399.1_In_Frame_Del_p.K300del|ZFAT-AS1_ENST00000505776.1_RNA	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	362					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CGTCAGAGTACTTCTTCTTGCAG	0.547																																																	0																																										SO:0001651	inframe_deletion	0			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1084_1086delAAG	8.37:g.135614882_135614884delCTT	ENSP00000367069:p.Lys362del		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	In_Frame_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K362in_frame_del	ENST00000377838.3	37	c.1086_1084	CCDS47924.1	8																																																																																			ZFAT	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000066827		0.547	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1		0.00	57	0	CTT	NM_001029939		135614878	-1	tier1		no_errors	ENST00000377838	ensembl	human	known	74_37	in_frame_del	27.50	29	11	DEL	1.000:1.000:1.000	-
ZFHX3	463	genome.wustl.edu	37	16	72822521	72822521	+	Silent	SNP	C	C	T	rs374377988		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:72822521C>T	ENST00000268489.5	-	10	10326	c.9654G>A	c.(9652-9654)ccG>ccA	p.P3218P	RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.P2304P|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3218					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTGTGGGTGGCGGCTGGGCTG	0.622																																																	0													119.0	129.0	126.0					16																	72822521		2198	4300	6498	SO:0001819	synonymous_variant	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9654G>A	16.37:g.72822521C>T			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.P3218	ENST00000268489.5	37	c.9654	CCDS10908.1	16																																																																																			ZFHX3	-	NULL	ENSG00000140836		0.622	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	-	0.00	101	0	C	NM_006885		72822521	-1	tier1	-	no_errors	ENST00000268489	ensembl	human	known	74_37	silent	51.22	40	42	SNP	0.110	T
ZFHX3	463	genome.wustl.edu	37	16	72822738	72822738	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:72822738G>A	ENST00000268489.5	-	10	10109	c.9437C>T	c.(9436-9438)tCt>tTt	p.S3146F	RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2232F|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3146					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGCTTAGGAGACGTTAAAGC	0.542																																																	0													84.0	86.0	85.0					16																	72822738		2198	4297	6495	SO:0001583	missense	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9437C>T	16.37:g.72822738G>A	ENSP00000268489:p.Ser3146Phe		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.S3146F	ENST00000268489.5	37	c.9437	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	14.43	2.531768	0.45073	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.76578	-1.03;-1.01	5.89	5.89	0.94794	.	0.000000	0.49916	D	0.000138	T	0.80565	0.4647	L	0.43923	1.385	0.58432	D	0.999996	D	0.56521	0.976	P	0.51016	0.656	T	0.81256	-0.1015	10	0.62326	D	0.03	.	20.2527	0.98410	0.0:0.0:1.0:0.0	.	3146	Q15911	ZFHX3_HUMAN	F	3146;2232	ENSP00000268489:S3146F;ENSP00000438926:S2232F	ENSP00000268489:S3146F	S	-	2	0	ZFHX3	71380239	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.788000	0.95919	0.557000	0.71058	TCT	ZFHX3	-	NULL	ENSG00000140836		0.542	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	-	0.00	69	0	G	NM_006885		72822738	-1	tier1	-	no_errors	ENST00000268489	ensembl	human	known	74_37	missense	13.70	63	10	SNP	1.000	A
ZFHX4	79776	genome.wustl.edu	37	8	77616580	77616580	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:77616580C>T	ENST00000521891.2	+	2	705	c.257C>T	c.(256-258)gCc>gTc	p.A86V	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A86V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A86V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A86V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	86					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.A86V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACGAATGTGCCACTTCTTTT	0.507										HNSCC(33;0.089)																																							1	Substitution - Missense(1)	lung(1)											179.0	178.0	178.0					8																	77616580		2083	4210	6293	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.257C>T	8.37:g.77616580C>T	ENSP00000430497:p.Ala86Val		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.A86V	ENST00000521891.2	37	c.257	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384779	0.61956	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.53	5.53	0.82687	Zinc finger, C2H2-like (1);	0.000000	0.44097	U	0.000482	T	0.42449	0.1203	N	0.14661	0.345	0.58432	D	0.999995	D;D;D;P	0.61697	0.982;0.972;0.99;0.822	P;P;P;B	0.59825	0.734;0.691;0.864;0.269	T	0.44345	-0.9334	10	0.66056	D	0.02	.	19.6556	0.95837	0.0:1.0:0.0:0.0	.	86;86;86;86	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	V	86	ENSP00000430497:A86V;ENSP00000399605:A86V;ENSP00000050961:A86V;ENSP00000428525:A86V;ENSP00000429495:A86V;ENSP00000427775:A86V;ENSP00000427739:A86V;ENSP00000430848:A86V	ENSP00000050961:A86V	A	+	2	0	ZFHX4	77779135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.816000	0.69222	2.882000	0.98803	0.655000	0.94253	GCC	ZFHX4	-	smart_Znf_C2H2-like	ENSG00000091656		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0.00	54	0	C	NM_024721		77616580	+1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	30.67	52	23	SNP	1.000	T
ZFHX4	79776	genome.wustl.edu	37	8	77767965	77767965	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:77767965G>T	ENST00000521891.2	+	10	9256	c.8808G>T	c.(8806-8808)atG>atT	p.M2936I	ZFHX4_ENST00000455469.2_Missense_Mutation_p.M2891I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M2891I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.M2910I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2891					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.M2920I(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAACGCAAATGAGCAATCTTC	0.473										HNSCC(33;0.089)																																							1	Substitution - Missense(1)	lung(1)											72.0	69.0	70.0					8																	77767965		1944	4137	6081	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8808G>T	8.37:g.77767965G>T	ENSP00000430497:p.Met2936Ile		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.M2936I	ENST00000521891.2	37	c.8808	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887736	0.52014	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8	5.19	5.19	0.71726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.53938	U	0.000049	D	0.94265	0.8158	N	0.04787	-0.16	0.80722	D	1	P;P;P	0.51653	0.84;0.807;0.947	D;P;D	0.68192	0.939;0.899;0.956	D	0.94467	0.7681	10	0.35671	T	0.21	.	18.8924	0.92410	0.0:0.0:1.0:0.0	.	2891;2891;2936	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	I	2936;2920;2891;2891;2910	ENSP00000430497:M2936I;ENSP00000399605:M2891I;ENSP00000050961:M2891I;ENSP00000430848:M2910I	ENSP00000050961:M2891I	M	+	3	0	ZFHX4	77930520	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	9.657000	0.98554	2.696000	0.92011	0.655000	0.94253	ATG	ZFHX4	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000091656		0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2		0.00	29	0	G	NM_024721		77767965	+1			no_errors	ENST00000521891	ensembl	human	known	74_37	missense	6.67	28	2	SNP	1.000	T
ZFP1	162239	genome.wustl.edu	37	16	75203538	75203539	+	Frame_Shift_Ins	INS	-	-	A	rs538400568		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:75203538_75203539insA	ENST00000393430.2	+	4	654_655	c.530_531insA	c.(529-534)ataaaafs	p.IK177fs	ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000570010.1_Frame_Shift_Ins_p.IK177fs|ZFP1_ENST00000332307.4_Frame_Shift_Ins_p.IK144fs|ZFP1_ENST00000568079.1_3'UTR			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						CATCAGAAAATAAAAAACTTGG	0.361																																					NSCLC(187;1429 2122 10143 20357 42217)												0																																										SO:0001589	frameshift_variant	0			AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"""Zinc fingers, C2H2-type"", ""-"""	23328	protein-coding gene	gene with protein product			"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.536dupA	16.37:g.75203544_75203544dupA	ENSP00000377080:p.Ile177fs		A8K5Q7|B4DKG9|Q8N188|Q8N9F9	Frame_Shift_Ins	INS	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.N179fs	ENST00000393430.2	37	c.530_531	CCDS10914.2	16																																																																																			ZFP1	-	NULL	ENSG00000184517		0.361	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP1	HGNC	protein_coding	OTTHUMT00000269013.2		0.00	14	0	-	NM_153688		75203539	+1	tier1		no_errors	ENST00000393430	ensembl	human	known	74_37	frame_shift_ins	27.78	13	5	INS	0.862:0.295	A
ZFR	51663	genome.wustl.edu	37	5	32403232	32403232	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:32403232T>C	ENST00000265069.8	-	8	1597	c.1495A>G	c.(1495-1497)Acc>Gcc	p.T499A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	499					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ATTTTGGGGGTAGATGTTTTC	0.418																																																	0													121.0	121.0	121.0					5																	32403232		2203	4300	6503	SO:0001583	missense	0			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.1495A>G	5.37:g.32403232T>C	ENSP00000265069:p.Thr499Ala		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.T499A	ENST00000265069.8	37	c.1495	CCDS34139.1	5	.	.	.	.	.	.	.	.	.	.	T	10.90	1.482204	0.26598	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.04862	3.54	5.73	5.73	0.89815	.	0.141423	0.64402	D	0.000004	T	0.04588	0.0125	N	0.10972	0.075	0.53688	D	0.999979	B	0.06786	0.001	B	0.04013	0.001	T	0.50303	-0.8844	10	0.23302	T	0.38	.	16.0067	0.80367	0.0:0.0:0.0:1.0	.	499	Q96KR1	ZFR_HUMAN	A	499;477	ENSP00000265069:T499A	ENSP00000265069:T499A	T	-	1	0	ZFR	32438989	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.845000	0.62853	2.187000	0.69744	0.402000	0.26972	ACC	ZFR	-	NULL	ENSG00000056097		0.418	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	HGNC	protein_coding	OTTHUMT00000366586.1	-	0.00	71	0	T			32403232	-1	tier1	-	no_errors	ENST00000265069	ensembl	human	known	74_37	missense	27.20	91	34	SNP	1.000	C
ZFR2	23217	genome.wustl.edu	37	19	3807217	3807217	+	Missense_Mutation	SNP	C	C	T	rs200032828	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:3807217C>T	ENST00000262961.4	-	18	2606	c.2596G>A	c.(2596-2598)Gag>Aag	p.E866K		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	866	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GTCATGGGCTCGAGGGCATCT	0.647													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19486	0.001		0.0	False		,,,				2504	0.0																0								C	LYS/GLU	5,3971		0,5,1983	69.0	77.0	75.0		2596	3.4	0.0	19		75	0,8274		0,0,4137	yes	missense	ZFR2	NM_015174.1	56	0,5,6120	TT,TC,CC		0.0,0.1258,0.0408	benign	866/940	3807217	5,12245	1988	4137	6125	SO:0001583	missense	0			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.2596G>A	19.37:g.3807217C>T	ENSP00000262961:p.Glu866Lys			Missense_Mutation	SNP	pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.E866K	ENST00000262961.4	37	c.2596	CCDS45921.1	19	.	.	.	.	.	.	.	.	.	.	C	7.263	0.605650	0.14002	0.001258	0.0	ENSG00000105278	ENST00000262961	T	0.41400	1.0	3.41	3.41	0.39046	DZF (2);	1.014760	0.07911	N	0.974298	T	0.28699	0.0711	N	0.19112	0.55	0.18873	N	0.999989	B	0.16166	0.016	B	0.13407	0.009	T	0.10382	-1.0632	10	0.20046	T	0.44	-10.5975	10.5526	0.45099	0.0:1.0:0.0:0.0	.	866	Q9UPR6	ZFR2_HUMAN	K	866	ENSP00000262961:E866K	ENSP00000262961:E866K	E	-	1	0	ZFR2	3758217	0.000000	0.05858	0.022000	0.16811	0.672000	0.39443	0.763000	0.26517	1.934000	0.56057	0.555000	0.69702	GAG	ZFR2	-	pfam_DZF,smart_DZF	ENSG00000105278		0.647	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	HGNC	protein_coding	OTTHUMT00000453648.2	-	0.00	18	0	C	NM_015174		3807217	-1	tier1	rs200032828	no_errors	ENST00000262961	ensembl	human	known	74_37	missense	41.18	10	7	SNP	0.034	T
ZFYVE28	57732	genome.wustl.edu	37	4	2343248	2343248	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr4:2343248A>G	ENST00000290974.2	-	3	614	c.275T>C	c.(274-276)aTc>aCc	p.I92T	ZFYVE28_ENST00000505421.1_5'Flank|ZFYVE28_ENST00000509171.1_Missense_Mutation_p.I45T|ZFYVE28_ENST00000503000.1_Missense_Mutation_p.I92T|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.I92T|ZFYVE28_ENST00000515169.1_Missense_Mutation_p.I22T|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.I22T	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	92					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GTCGTGCCGGATCTCCTCAGG	0.597																																																	0													48.0	48.0	48.0					4																	2343248		2203	4300	6503	SO:0001583	missense	0			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.275T>C	4.37:g.2343248A>G	ENSP00000290974:p.Ile92Thr		B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.I92T	ENST00000290974.2	37	c.275	CCDS33942.1	4	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472507	0.84640	.	.	ENSG00000159733	ENST00000290974;ENST00000511071;ENST00000515312;ENST00000515169;ENST00000509171;ENST00000503000;ENST00000508184	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.56702	0.2003	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;0.984;0.999	D;D;D	0.85130	0.997;0.964;0.978	T	0.60311	-0.7288	10	0.87932	D	0	.	13.1296	0.59373	1.0:0.0:0.0:0.0	.	92;45;92	Q9HCC9-2;E9PB54;Q9HCC9	.;.;LST2_HUMAN	T	92;92;22;22;45;92;22	ENSP00000290974:I92T;ENSP00000425706:I92T;ENSP00000426299:I22T;ENSP00000425766:I22T;ENSP00000422638:I45T;ENSP00000423694:I92T;ENSP00000427471:I22T	ENSP00000290974:I92T	I	-	2	0	ZFYVE28	2313046	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.224000	0.89781	1.693000	0.51124	0.482000	0.46254	ATC	ZFYVE28	-	NULL	ENSG00000159733		0.597	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1		0.00	61	0	A	XM_035371		2343248	-1			no_errors	ENST00000290974	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	G
ZGLP1	100125288	genome.wustl.edu	37	19	10419281	10419281	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:10419281G>A	ENST00000403903.3	-	1	1275	c.77C>T	c.(76-78)cCg>cTg	p.P26L	CTD-2369P2.10_ENST00000452032.2_Intron|ZGLP1_ENST00000403352.1_Intron|FDX1L_ENST00000492239.1_5'Flank|FDX1L_ENST00000541276.1_Intron	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	26					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GGGTTTAGCCGGCCAGGGGGT	0.592																																																	0													33.0	38.0	36.0					19																	10419281		1902	4111	6013	SO:0001583	missense	0			AK096830	CCDS45959.1	19p13.2	2013-01-25			ENSG00000220201	ENSG00000220201		"""GATA zinc finger domain containing"""	37245	protein-coding gene	gene with protein product	"""GATA like protein 1"", ""GATA zinc finger domain containing 3"""	611639				16982049	Standard	NM_001103167		Approved	GLP1, GLP-1, GATAD3	uc002mnw.4	P0C6A0	OTTHUMG00000152114	ENST00000403903.3:c.77C>T	19.37:g.10419281G>A	ENSP00000384434:p.Pro26Leu			Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA	p.P26L	ENST00000403903.3	37	c.77	CCDS45959.1	19	.	.	.	.	.	.	.	.	.	.	G	8.010	0.757414	0.15846	.	.	ENSG00000220201	ENST00000403903	D	0.98207	-4.79	1.96	-2.78	0.05859	.	.	.	.	.	D	0.91314	0.7261	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	D	0.84483	0.0606	9	0.72032	D	0.01	-3.3472	4.3504	0.11153	0.163:0.4541:0.3829:0.0	.	26	P0C6A0	ZGLP1_HUMAN	L	26	ENSP00000384434:P26L	ENSP00000384434:P26L	P	-	2	0	ZGLP1	10280281	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.822000	0.27352	-0.496000	0.06650	-0.502000	0.04539	CCG	ZGLP1	-	NULL	ENSG00000220201		0.592	ZGLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZGLP1	HGNC	protein_coding	OTTHUMT00000325278.1	-	0.00	61	0	G	NM_001103167		10419281	-1	tier1	-	no_errors	ENST00000403903	ensembl	human	known	74_37	missense	53.42	34	39	SNP	0.000	A
ZGPAT	84619	genome.wustl.edu	37	20	62366250	62366250	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:62366250C>T	ENST00000328969.5	+	5	1178				ZGPAT_ENST00000355969.6_Intron|ZGPAT_ENST00000357119.4_Intron|LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000369967.3_Intron|ZGPAT_ENST00000448100.2_Intron|ZGPAT_ENST00000478385.1_3'UTR|RP4-583P15.15_ENST00000490623.2_Intron	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain						negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					ATCAGGTTCCCGGGGTCCCGC	0.652																																																	0																																										SO:0001627	intron_variant	0			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.1051+74C>T	20.37:g.62366250C>T			E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	RNA	SNP	-	NULL	ENST00000328969.5	37	NULL	CCDS13534.1	20																																																																																			ZGPAT	-	-	ENSG00000197114		0.652	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	ZGPAT	HGNC	protein_coding	OTTHUMT00000080214.1	-	0.00	38	0	C	NM_181484		62366250	+1	tier1	-	no_errors	ENST00000478385	ensembl	human	known	74_37	rna	52.94	24	27	SNP	0.134	T
ZIC2	7546	genome.wustl.edu	37	13	100635007	100635008	+	In_Frame_Ins	INS	-	-	CCA	rs372873355|rs375069774|rs398124241	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:100635007_100635008insCCA	ENST00000376335.3	+	1	982_983	c.689_690insCCA	c.(688-693)gcccac>gcCCAccac	p.239_240insH		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	239	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.|Poly-His.		H -> HH. {ECO:0000269|PubMed:15221788}.|Missing. {ECO:0000269|PubMed:15221788}.		brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAGCCGCGGCccaccaccacc	0.624														223	0.0445288	0.0711	0.0591	5008	,	,		14835	0.0456		0.004	False		,,,				2504	0.0389				Pancreas(97;119 1522 31925 44771 48764)												0																																										SO:0001652	inframe_insertion	0			AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.714_716dupCCA	13.37:g.100635014_100635016dupCCA	ENSP00000365514:p.His239_His239dup		Q5VYA9|Q9H309	In_Frame_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.234in_frame_insH	ENST00000376335.3	37	c.689_690	CCDS9495.1	13																																																																																			ZIC2	-	NULL	ENSG00000043355		0.624	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC2	HGNC	protein_coding	OTTHUMT00000045618.2		0.00	38	0	-	NM_007129		100635008	+1	tier1		no_errors	ENST00000376335	ensembl	human	known	74_37	in_frame_ins	10.81	33	4	INS	1.000:0.990	CCA
ZIC4	84107	genome.wustl.edu	37	3	147104255	147104255	+	3'UTR	SNP	T	T	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:147104255T>A	ENST00000383075.3	-	0	3908				ZIC4-AS1_ENST00000462168.1_RNA|ZIC4_ENST00000425731.3_3'UTR|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000525172.2_3'UTR	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4							nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GACCTTCAGTTAACAAATAAA	0.299																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.*2391A>T	3.37:g.147104255T>A			A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	RNA	SNP	-	NULL	ENST00000383075.3	37	NULL	CCDS43160.1	3																																																																																			ZIC4	-	-	ENSG00000174963		0.299	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC4	HGNC	protein_coding	OTTHUMT00000355504.1	-	0.00	31	0	T			147104255	-1	tier1	-	no_errors	ENST00000472749	ensembl	human	known	74_37	rna	50.00	19	19	SNP	1.000	A
ZIC4	84107	genome.wustl.edu	37	3	147124448	147124450	+	5'UTR	DEL	ACA	ACA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	ACA	ACA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:147124448_147124450delACA	ENST00000383075.3	-	0	197_199				ZIC4_ENST00000425731.3_5'Flank|ZIC4_ENST00000484399.1_5'Flank|ZIC4_ENST00000525172.2_5'Flank|ZIC4_ENST00000473123.1_5'Flank|ZIC4_ENST00000491672.1_5'UTR|ZIC1_ENST00000282928.4_5'Flank	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4							nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TCTACAACCCACAACTTTTTTTT	0.453																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.-316TGT>-	3.37:g.147124448_147124450delACA			A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	RNA	DEL	-	NULL	ENST00000383075.3	37	NULL	CCDS43160.1	3																																																																																			ZIC4	-	-	ENSG00000174963		0.453	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC4	HGNC	protein_coding	OTTHUMT00000355504.1		0.00	40	0	ACA			147124450	-1	tier1		no_errors	ENST00000464144	ensembl	human	putative	74_37	rna	33.33	18	9	DEL	1.000:1.000:1.000	-
ZIC5	85416	genome.wustl.edu	37	13	100622616	100622616	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:100622616C>T	ENST00000267294.4	-	1	1547	c.1314G>A	c.(1312-1314)atG>atA	p.M438I		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	438					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCAGCTCGTGCATGGTGCCGA	0.746																																																	0													45.0	44.0	45.0					13																	100622616		2203	4300	6503	SO:0001583	missense	0			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1314G>A	13.37:g.100622616C>T	ENSP00000267294:p.Met438Ile		Q5VYB0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M438I	ENST00000267294.4	37	c.1314	CCDS9494.2	13	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504949	0.85282	.	.	ENSG00000139800	ENST00000397451;ENST00000267294	T	0.34859	1.34	4.41	4.41	0.53225	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.39200	0.1069	L	0.60904	1.88	0.80722	D	1	B	0.21309	0.054	B	0.26202	0.067	T	0.36114	-0.9761	9	0.54805	T	0.06	.	15.7566	0.78037	0.0:1.0:0.0:0.0	.	438	Q96T25	ZIC5_HUMAN	I	76;438	ENSP00000267294:M438I	ENSP00000267294:M438I	M	-	3	0	ZIC5	99420617	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.688000	0.84153	1.983000	0.57843	0.313000	0.20887	ATG	ZIC5	-	smart_Znf_C2H2-like	ENSG00000139800		0.746	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZIC5	HGNC	protein_coding	OTTHUMT00000045623.3	-	0.00	42	0	C	NM_033132		100622616	-1	tier1	-	no_errors	ENST00000267294	ensembl	human	known	74_37	missense	26.83	30	11	SNP	1.000	T
ZMAT4	79698	genome.wustl.edu	37	8	40554909	40554909	+	Silent	SNP	G	G	A	rs149820458		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:40554909G>A	ENST00000297737.6	-	4	350	c.204C>T	c.(202-204)gcC>gcT	p.A68A	ZMAT4_ENST00000315769.7_Silent_p.A68A	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	68						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CCACCATGTCGGCATCACTTC	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		15983	0.0		0.001	False		,,,				2504	0.0																0								G	,	2,4404	4.2+/-10.8	0,2,2201	83.0	71.0	75.0		204,204	-7.7	0.7	8	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZMAT4	NM_001135731.1,NM_024645.2	,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,	68/154,68/230	40554909	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.204C>T	8.37:g.40554909G>A			Q8WUT8	Silent	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.A68	ENST00000297737.6	37	c.204	CCDS34885.1	8																																																																																			ZMAT4	-	NULL	ENSG00000165061		0.478	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT4	HGNC	protein_coding	OTTHUMT00000376950.1	-	0.00	68	0	G	NM_024645		40554909	-1	tier1	rs149820458	no_errors	ENST00000297737	ensembl	human	known	74_37	silent	27.38	60	23	SNP	0.966	A
ZMYM2	7750	genome.wustl.edu	37	13	20610980	20610980	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:20610980A>G	ENST00000382874.2	+	13	2413	c.2223A>G	c.(2221-2223)gaA>gaG	p.E741E	ZMYM2_ENST00000382871.2_Silent_p.E741E|ZMYM2_ENST00000382883.3_Silent_p.E223E|ZMYM2_ENST00000382869.3_Silent_p.E741E	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	741					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAACTAAAGAACTCGATGGTG	0.378																																																	0													119.0	116.0	117.0					13																	20610980		1855	4102	5957	SO:0001819	synonymous_variant	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2223A>G	13.37:g.20610980A>G			A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Silent	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.E741	ENST00000382874.2	37	c.2223	CCDS45016.1	13																																																																																			ZMYM2	-	pfam_Znf_MYM,smart_TRASH_dom	ENSG00000121741		0.378	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	-	0.00	53	0	A	NM_003453		20610980	+1	tier1	-	no_errors	ENST00000382869	ensembl	human	known	74_37	silent	53.97	29	34	SNP	0.997	G
ZMYM2	7750	genome.wustl.edu	37	13	20567457	20567457	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:20567457T>C	ENST00000382874.2	+	4	435	c.245T>C	c.(244-246)aTa>aCa	p.I82T	ZMYM2_ENST00000382881.3_Missense_Mutation_p.I82T|ZMYM2_ENST00000382871.2_Missense_Mutation_p.I82T|ZMYM2_ENST00000382869.3_Missense_Mutation_p.I82T	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	82					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAAAGAACCATAACATTTACA	0.393																																																	0													61.0	56.0	58.0					13																	20567457		1947	4157	6104	SO:0001583	missense	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.245T>C	13.37:g.20567457T>C	ENSP00000372327:p.Ile82Thr		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.I82T	ENST00000382874.2	37	c.245	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	T	10.62	1.402356	0.25291	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382881;ENST00000382874;ENST00000382871	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.16	3.97	0.46021	.	0.947609	0.08934	N	0.872540	T	0.18635	0.0447	N	0.14661	0.345	0.80722	D	1	B;B;B	0.13145	0.0;0.0;0.007	B;B;B	0.09377	0.0;0.0;0.004	T	0.04551	-1.0943	10	0.21014	T	0.42	-1.4184	8.8686	0.35303	0.0:0.167:0.0:0.833	.	82;82;82	A8K126;Q9UBW7;Q9UBW7-2	.;ZMYM2_HUMAN;.	T	82	ENSP00000372322:I82T;ENSP00000372334:I82T;ENSP00000372327:I82T;ENSP00000372324:I82T	ENSP00000372322:I82T	I	+	2	0	ZMYM2	19465457	0.767000	0.28508	0.997000	0.53966	0.982000	0.71751	1.899000	0.39818	0.903000	0.36546	0.533000	0.62120	ATA	ZMYM2	-	NULL	ENSG00000121741		0.393	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2		0.00	31	0	T	NM_003453		20567457	+1			no_errors	ENST00000382869	ensembl	human	known	74_37	missense	6.25	45	3	SNP	0.988	C
ZMYM2	7750	genome.wustl.edu	37	13	20641084	20641084	+	Missense_Mutation	SNP	G	G	A	rs542204363		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr13:20641084G>A	ENST00000382874.2	+	21	3416	c.3226G>A	c.(3226-3228)Gta>Ata	p.V1076I	ZMYM2_ENST00000494061.2_3'UTR|ZMYM2_ENST00000382871.2_Missense_Mutation_p.V1076I|ZMYM2_ENST00000382869.3_Missense_Mutation_p.V1076I	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1076					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TACGTATGGCGTAAATGCATG	0.373													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16516	0.0		0.0	False		,,,				2504	0.0																0													128.0	119.0	122.0					13																	20641084		1863	4096	5959	SO:0001583	missense	0			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3226G>A	13.37:g.20641084G>A	ENSP00000372327:p.Val1076Ile		A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom	p.V1076I	ENST00000382874.2	37	c.3226	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027658	0.35797	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.25579	1.79	5.06	5.06	0.68205	.	0.270733	0.36200	N	0.002736	T	0.17195	0.0413	N	0.10809	0.05	0.80722	D	1	B	0.21905	0.062	B	0.10450	0.005	T	0.04915	-1.0918	10	0.48119	T	0.1	-11.2344	18.4254	0.90607	0.0:0.0:1.0:0.0	.	1076	Q9UBW7	ZMYM2_HUMAN	I	1076;1076;1074;1074;454	ENSP00000372322:V1076I	ENSP00000372322:V1076I	V	+	1	0	ZMYM2	19539084	0.994000	0.37717	0.833000	0.33012	0.632000	0.37999	2.176000	0.42500	2.354000	0.79902	0.455000	0.32223	GTA	ZMYM2	-	NULL	ENSG00000121741		0.373	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	-	0.00	48	0	G	NM_003453		20641084	+1	tier1	-	no_errors	ENST00000382869	ensembl	human	known	74_37	missense	27.63	55	21	SNP	0.999	A
ZMYM6	9204	genome.wustl.edu	37	1	35485090	35485090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:35485090delT	ENST00000357182.4	-	4	519	c.292delA	c.(292-294)atgfs	p.M98fs	ZMYM6_ENST00000487874.1_Frame_Shift_Del_p.M98fs|ZMYM6_ENST00000317538.5_Frame_Shift_Del_p.M98fs|ZMYM6_ENST00000373340.2_Frame_Shift_Del_p.M98fs|ZMYM6_ENST00000373333.1_Frame_Shift_Del_p.M98fs|ZMYM6_ENST00000493328.1_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	98					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTATAAAGCATTTTTTTACAA	0.453																																																	0													123.0	115.0	118.0					1																	35485090		2203	4300	6503	SO:0001589	frameshift_variant	0			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.292delA	1.37:g.35485090delT	ENSP00000349708:p.Met98fs		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Frame_Shift_Del	DEL	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom	p.M98fs	ENST00000357182.4	37	c.292	CCDS387.2	1																																																																																			ZMYM6	-	pfam_Znf_MYM,smart_TRASH_dom	ENSG00000163867		0.453	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1		0.00	53	0	T	NM_007167		35485090	-1	tier1		no_errors	ENST00000357182	ensembl	human	known	74_37	frame_shift_del	40.00	36	24	DEL	1.000	-
ZMYND15	84225	genome.wustl.edu	37	17	4646651	4646651	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr17:4646651A>G	ENST00000433935.1	+	6	1255	c.1198A>G	c.(1198-1200)Act>Gct	p.T400A	ZMYND15_ENST00000573751.2_Missense_Mutation_p.T400A|ZMYND15_ENST00000592813.1_Missense_Mutation_p.T400A|ZMYND15_ENST00000269289.6_Missense_Mutation_p.T400A	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	400					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TCGGGGCCTCACTCGTGGCTA	0.612																																																	0													125.0	133.0	130.0					17																	4646651		2203	4300	6503	SO:0001583	missense	0			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1198A>G	17.37:g.4646651A>G	ENSP00000391742:p.Thr400Ala		B4DXY5|I3L296	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.T400A	ENST00000433935.1	37	c.1198	CCDS45584.1	17	.	.	.	.	.	.	.	.	.	.	A	18.23	3.577068	0.65878	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.48201	0.9;0.82	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000012	T	0.56499	0.1989	L	0.44542	1.39	0.36744	D	0.882378	D;D	0.65815	0.995;0.982	D;D	0.73380	0.98;0.952	T	0.55405	-0.8146	10	0.09084	T	0.74	-11.581	14.0058	0.64463	1.0:0.0:0.0:0.0	.	400;400	B4DXY5;Q9H091	.;ZMY15_HUMAN	A	400	ENSP00000391742:T400A;ENSP00000269289:T400A	ENSP00000269289:T400A	T	+	1	0	ZMYND15	4593400	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.759000	0.68785	2.181000	0.69327	0.460000	0.39030	ACT	ZMYND15	-	NULL	ENSG00000141497		0.612	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND15	HGNC	protein_coding	OTTHUMT00000439580.1	-	0.00	64	0	A	NM_032265		4646651	+1	tier1	-	no_errors	ENST00000433935	ensembl	human	known	74_37	missense	30.51	40	18	SNP	1.000	G
ZMYND19	116225	genome.wustl.edu	37	9	140482038	140482038	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:140482038delA	ENST00000298585.2	-	3	445				ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19							cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		TGAAGGACACAAAAATAACTG	0.577																																																	0																																										SO:0001627	intron_variant	0			BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.218+130T>-	9.37:g.140482038delA			Q5T366	RNA	DEL	-	NULL	ENST00000298585.2	37	NULL	CCDS7048.1	9																																																																																			ZMYND19	-	-	ENSG00000165724		0.577	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND19	HGNC	protein_coding	OTTHUMT00000055356.1		0.00	27	0	A	NM_138462		140482038	-1	tier1		no_errors	ENST00000471957	ensembl	human	known	74_37	rna	37.50	15	9	DEL	0.002	-
ZNF140	7699	genome.wustl.edu	37	12	133682867	133682867	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr12:133682867G>T	ENST00000355557.2	+	5	2287	c.1004G>T	c.(1003-1005)aGg>aTg	p.R335M	ZNF140_ENST00000544426.1_Missense_Mutation_p.R232M|ZNF140_ENST00000440550.2_3'UTR	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AATGAATGTAGGAAAGCTTTC	0.403																																																	0													119.0	110.0	113.0					12																	133682867		2203	4300	6503	SO:0001583	missense	0			U09368	CCDS9282.1, CCDS73550.1	12q24.33	2013-01-08	2006-06-13		ENSG00000196387	ENSG00000196387		"""Zinc fingers, C2H2-type"", ""-"""	12925	protein-coding gene	gene with protein product		604082	"""zinc finger protein 140 (clone pHZ-39)"""			7557990	Standard	XR_245353		Approved	pHZ-39	uc001ulo.3	P52738	OTTHUMG00000167942	ENST00000355557.2:c.1004G>T	12.37:g.133682867G>T	ENSP00000347755:p.Arg335Met		D3DXJ3|Q05CP6|Q8IV75	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.R335M	ENST00000355557.2	37	c.1004	CCDS9282.1	12	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222356	0.39300	.	.	ENSG00000196387	ENST00000355557;ENST00000544426	T;T	0.15017	2.46;2.46	3.84	0.785	0.18584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.482540	0.04807	N	0.434480	T	0.17789	0.0427	L	0.32530	0.975	0.80722	D	1	P	0.35612	0.512	B	0.41619	0.361	T	0.06006	-1.0851	10	0.87932	D	0	.	5.7398	0.18087	0.1933:0.1966:0.6101:0.0	.	335	P52738	ZN140_HUMAN	M	335;232	ENSP00000347755:R335M;ENSP00000445411:R232M	ENSP00000347755:R335M	R	+	2	0	ZNF140	132192940	0.133000	0.22466	0.006000	0.13384	0.898000	0.52572	0.962000	0.29280	0.032000	0.15435	0.557000	0.71058	AGG	ZNF140	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196387		0.403	ZNF140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF140	HGNC	protein_coding	OTTHUMT00000397169.1	-	0.00	70	0	G	NM_003440		133682867	+1	tier1	-	no_errors	ENST00000355557	ensembl	human	known	74_37	missense	7.58	61	5	SNP	0.974	T
ZNF180	7733	genome.wustl.edu	37	19	44981824	44981824	+	Nonsense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:44981824C>A	ENST00000221327.4	-	5	1155	c.874G>T	c.(874-876)Gaa>Taa	p.E292*	ZNF180_ENST00000391956.4_Nonsense_Mutation_p.E267*|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000592529.1_Nonsense_Mutation_p.E265*|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	292					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TGAATTTTTTCATGTATATGT	0.343																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)												0													72.0	78.0	76.0					19																	44981824		2203	4298	6501	SO:0001587	stop_gained	0			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.874G>T	19.37:g.44981824C>A	ENSP00000221327:p.Glu292*		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E292*	ENST00000221327.4	37	c.874	CCDS12639.1	19	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345493	0.82022	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	.	.	.	5.08	-1.64	0.08318	.	0.396806	0.18456	N	0.140684	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-10.012	6.5317	0.22330	0.1198:0.3351:0.4674:0.0776	.	.	.	.	X	292;267	.	ENSP00000221327:E292X	E	-	1	0	ZNF180	49673664	0.495000	0.26051	0.005000	0.12908	0.626000	0.37791	0.128000	0.15810	0.122000	0.18314	0.655000	0.94253	GAA	ZNF180	-	NULL	ENSG00000167384		0.343	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF180	HGNC	protein_coding	OTTHUMT00000451601.1	-	0.00	59	0	C	NM_013256		44981824	-1	tier1	-	no_errors	ENST00000221327	ensembl	human	known	74_37	nonsense	45.45	41	35	SNP	0.007	A
ZNF185	7739	genome.wustl.edu	37	X	152105006	152105006	+	Intron	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:152105006A>G	ENST00000370268.4	+	15	1155				ZNF185_ENST00000539731.1_Missense_Mutation_p.D359G|ZNF185_ENST00000449285.2_Intron|ZNF185_ENST00000370270.2_Missense_Mutation_p.D388G|ZNF185_ENST00000318504.7_Intron|ZNF185_ENST00000324823.6_Intron|ZNF185_ENST00000535861.1_Missense_Mutation_p.D388G|ZNF185_ENST00000318529.8_Intron			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGACCAGGATGGGCACAGT	0.552																																																	0																																										SO:0001627	intron_variant	0			AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1119-1612A>G	X.37:g.152105006A>G			A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.D388G	ENST00000370268.4	37	c.1163	CCDS48184.1	X	.	.	.	.	.	.	.	.	.	.	A	8.163	0.790037	0.16258	.	.	ENSG00000147394	ENST00000535861;ENST00000539731;ENST00000436731	T;T	0.58358	0.34;0.35	3.14	0.641	0.17759	.	.	.	.	.	T	0.25494	0.0620	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.003	T	0.16070	-1.0415	9	0.23891	T	0.37	.	3.1001	0.06323	0.6114:0.2477:0.1409:0.0	.	359;388	F5GZL4;F5GXF7	.;.	G	388;359;61	ENSP00000440847:D388G;ENSP00000444367:D359G	ENSP00000391272:D61G	D	+	2	0	ZNF185	151855662	0.002000	0.14202	0.000000	0.03702	0.018000	0.09664	0.444000	0.21661	0.062000	0.16340	0.444000	0.29173	GAT	ZNF185	-	NULL	ENSG00000147394		0.552	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF185	HGNC	protein_coding	OTTHUMT00000377480.1	-	0.00	21	0	A	NM_007150		152105006	+1	tier1	-	no_errors	ENST00000370270	ensembl	human	known	74_37	missense	88.00	3	22	SNP	0.000	G
ZNF202	7753	genome.wustl.edu	37	11	123599869	123599869	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr11:123599869A>T	ENST00000529691.1	-	4	886	c.667T>A	c.(667-669)Tca>Aca	p.S223T	ZNF202_ENST00000530393.1_Missense_Mutation_p.S223T|ZNF202_ENST00000336139.4_Missense_Mutation_p.S223T			O95125	ZN202_HUMAN	zinc finger protein 202	223					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ACCATCTCTGAGTCTCCAGAG	0.498																																																	0													87.0	75.0	79.0					11																	123599869		2202	4299	6501	SO:0001583	missense	0			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.667T>A	11.37:g.123599869A>T	ENSP00000433881:p.Ser223Thr		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S223T	ENST00000529691.1	37	c.667	CCDS8443.1	11	.	.	.	.	.	.	.	.	.	.	A	11.55	1.673608	0.29693	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691	T;T;T	0.05925	3.37;3.37;3.37	5.42	-3.7	0.04437	.	0.820985	0.10253	N	0.696979	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.48246	-0.9052	10	0.14252	T	0.57	-0.2058	6.2231	0.20693	0.5954:0.0:0.2656:0.1389	.	223	O95125	ZN202_HUMAN	T	223	ENSP00000337724:S223T;ENSP00000432504:S223T;ENSP00000433881:S223T	ENSP00000337724:S223T	S	-	1	0	ZNF202	123105079	0.058000	0.20735	0.020000	0.16555	0.966000	0.64601	0.075000	0.14686	-0.687000	0.05162	-0.385000	0.06624	TCA	ZNF202	-	NULL	ENSG00000166261		0.498	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF202	HGNC	protein_coding	OTTHUMT00000387419.1	-	0.00	35	0	A	NM_003455		123599869	-1	tier1	-	no_errors	ENST00000336139	ensembl	human	known	74_37	missense	33.33	22	11	SNP	0.021	T
ZNF205	7755	genome.wustl.edu	37	16	3170161	3170161	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:3170161C>T	ENST00000382192.3	+	7	1705	c.1500C>T	c.(1498-1500)ggC>ggT	p.G500G	ZNF205_ENST00000219091.4_Silent_p.G500G|RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	500					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						CCCACCGTGGCGTGCGGCCCT	0.687																																																	0													65.0	59.0	61.0					16																	3170161		2197	4299	6496	SO:0001819	synonymous_variant	0			AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.1500C>T	16.37:g.3170161C>T			A8MZK0|D3DUB4|Q9BU95	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G500	ENST00000382192.3	37	c.1500	CCDS10494.2	16																																																																																			ZNF205	-	pfscan_Znf_C2H2	ENSG00000122386		0.687	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF205	HGNC	protein_coding	OTTHUMT00000309057.1	-	0.00	73	0	C	NM_003456		3170161	+1	tier1	-	no_errors	ENST00000219091	ensembl	human	known	74_37	silent	44.90	27	22	SNP	0.601	T
ZNF236	7776	genome.wustl.edu	37	18	74593430	74593430	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:74593430delA	ENST00000253159.8	+	9	1571	c.1373delA	c.(1372-1374)gaafs	p.E458fs	ZNF236_ENST00000320610.9_Frame_Shift_Del_p.E460fs	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	458					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GATAAAAAAGAAAAAAAAATG	0.383																																																	0													44.0	46.0	46.0					18																	74593430		1807	4074	5881	SO:0001589	frameshift_variant	0			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1373delA	18.37:g.74593430delA	ENSP00000253159:p.Glu458fs		B2RTX9|Q9UL37	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M461fs	ENST00000253159.8	37	c.1373	CCDS42447.1	18																																																																																			ZNF236	-	NULL	ENSG00000130856		0.383	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1		0.00	34	0	A			74593430	+1	tier1		no_errors	ENST00000253159	ensembl	human	known	74_37	frame_shift_del	23.81	16	5	DEL	0.988	-
ZNF25	219749	genome.wustl.edu	37	10	38239495	38239498	+	3'UTR	DEL	TTTT	TTTT	-	rs374283144|rs397780266|rs35754665|rs34503699|rs397845420	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TTTT	TTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:38239495_38239498delTTTT	ENST00000302609.7	-	0	3140_3143				ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				GTAGCCAACATTTTTTTTTTTTTT	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.*1560AAAA>-	10.37:g.38239503_38239506delTTTT			A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	RNA	DEL	-	NULL	ENST00000302609.7	37	NULL	CCDS7195.1	10																																																																																			ZNF25	-	-	ENSG00000175395		0.363	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF25	HGNC	protein_coding	OTTHUMT00000051214.1		0.00	25	0	TTTT	NM_145011, NM_006966		38239498	-1	tier1		no_errors	ENST00000374633	ensembl	human	known	74_37	rna	60.00	4	6	DEL	0.003:0.000:0.001:0.003	-
ZNF253	56242	genome.wustl.edu	37	19	20002726	20002726	+	Missense_Mutation	SNP	G	G	A	rs373902550		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:20002726G>A	ENST00000589717.1	+	4	762	c.670G>A	c.(670-672)Gga>Aga	p.G224R	CTC-559E9.8_ENST00000585571.1_RNA|AC011477.1_ENST00000578823.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.G148R	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	224				Missing (in Ref. 1; AAC26844). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AATTCATACCGGAGAGAAACC	0.378																																																	0								G	ARG/GLY	0,4342		0,0,2171	39.0	43.0	41.0		670	-0.4	0.1	19		41	3,8557		0,3,4277	no	missense	ZNF253	NM_021047.2	125	0,3,6448	AA,AG,GG		0.035,0.0,0.0233	possibly-damaging	224/500	20002726	3,12899	2171	4280	6451	SO:0001583	missense	0			AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.670G>A	19.37:g.20002726G>A	ENSP00000468720:p.Gly224Arg		A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	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.G224R	ENST00000589717.1	37	c.670	CCDS42532.1	19	.	.	.	.	.	.	.	.	.	.	g	8.629	0.893211	0.17613	0.0	3.5E-4	ENSG00000256771	ENST00000355650	.	.	.	0.876	-0.389	0.12455	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48295	0.1492	M	0.71036	2.16	0.31678	N	0.643465	P	0.50528	0.936	P	0.49252	0.604	T	0.55547	-0.8124	7	.	.	.	.	4.5998	0.12348	0.3023:0.0:0.6977:0.0	.	224	O75346	ZN253_HUMAN	R	224	.	.	G	+	1	0	ZNF253	19863726	0.101000	0.21875	0.068000	0.19968	0.068000	0.16541	2.171000	0.42453	0.293000	0.22520	0.298000	0.19748	GGA	ZNF253	-	pfscan_Znf_C2H2	ENSG00000256771		0.378	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF253	HGNC	protein_coding	OTTHUMT00000460802.1	-	0.00	40	0	G	NM_021047		20002726	+1	tier1	-	no_errors	ENST00000589717	ensembl	human	known	74_37	missense	46.05	41	35	SNP	0.986	A
ZNF271	10778	genome.wustl.edu	37	18	32888075	32888076	+	RNA	DEL	AA	AA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:32888075_32888076delAA	ENST00000399070.3	+	0	2469_2470					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						ctgtctatttaaaaaaaaaaaa	0.386																																																	0																																												0			X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32888085_32888086delAA			B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	DEL	-	NULL	ENST00000399070.3	37	NULL		18																																																																																			ZNF271	-	-	ENSG00000257267		0.386	ZNF271-002	KNOWN	basic	processed_transcript	ZNF271	HGNC	pseudogene	OTTHUMT00000255767.2		0.00	40	0	AA	NR_024565		32888076	+1	tier1		no_errors	ENST00000399070	ensembl	human	known	74_37	rna	22.22	28	8	DEL	0.019:0.042	-
ZNF271	10778	genome.wustl.edu	37	18	32888394	32888394	+	RNA	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:32888394A>G	ENST00000399070.3	+	0	2788					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						aaaaaaaaaaaaagaaaaaaa	0.423																																																	0																																												0			X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32888394A>G			B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	-	NULL	ENST00000399070.3	37	NULL		18																																																																																			ZNF271	-	-	ENSG00000257267		0.423	ZNF271-002	KNOWN	basic	processed_transcript	ZNF271	HGNC	pseudogene	OTTHUMT00000255767.2	-	0.00	37	0	A	NR_024565		32888394	+1	tier1	-	no_errors	ENST00000399070	ensembl	human	known	74_37	rna	26.67	22	8	SNP	0.465	G
ZNF277	11179	genome.wustl.edu	37	7	111970237	111970237	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:111970237G>T	ENST00000361822.3	+	7	896	c.767G>T	c.(766-768)aGa>aTa	p.R256I	AC004112.4_ENST00000431064.1_RNA|ZNF277_ENST00000450657.1_Missense_Mutation_p.R256I|AC004112.4_ENST00000411413.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	256					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.R256K(1)|p.R256T(1)		breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						CCTAAGAACAGAGAATATGAC	0.338																																																	2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|breast(1)											103.0	102.0	102.0					7																	111970237		2203	4299	6502	SO:0001583	missense	0			AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.767G>T	7.37:g.111970237G>T	ENSP00000354501:p.Arg256Ile		Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R256I	ENST00000361822.3	37	c.767	CCDS5755.2	7	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345776	0.61073	.	.	ENSG00000198839	ENST00000361822;ENST00000425229;ENST00000450657	T;T;T	0.44881	0.91;0.91;0.91	6.17	3.37	0.38596	.	0.258733	0.43919	D	0.000516	T	0.38241	0.1033	L	0.46157	1.445	0.49798	D	0.999821	P;P	0.49783	0.831;0.928	B;P	0.45558	0.379;0.485	T	0.14448	-1.0472	10	0.44086	T	0.13	-10.2532	9.8423	0.41006	0.3369:0.0:0.6631:0.0	.	256;256	Q9NRM2;G5E9M4	ZN277_HUMAN;.	I	256;168;256	ENSP00000354501:R256I;ENSP00000390359:R168I;ENSP00000402292:R256I	ENSP00000354501:R256I	R	+	2	0	ZNF277	111757473	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	1.253000	0.32886	0.927000	0.37143	0.655000	0.94253	AGA	ZNF277	-	NULL	ENSG00000198839		0.338	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF277	HGNC	protein_coding	OTTHUMT00000316843.2		0.00	54	0	G	NM_021994		111970237	+1			no_errors	ENST00000361822	ensembl	human	known	74_37	missense	5.77	49	3	SNP	0.948	T
ZNF280D	54816	genome.wustl.edu	37	15	56958728	56958728	+	Missense_Mutation	SNP	C	C	T	rs377486429		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:56958728C>T	ENST00000267807.7	-	16	2075	c.1859G>A	c.(1858-1860)cGt>cAt	p.R620H	ZNF280D_ENST00000559237.1_Missense_Mutation_p.R607H|ZNF280D_ENST00000396245.1_Missense_Mutation_p.R324H|ZNF280D_ENST00000559000.1_Missense_Mutation_p.R607H	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	620					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		AATGCCCCGACGATACCTTAG	0.313																																																	0								C	HIS/ARG,HIS/ARG	0,4384		0,0,2192	68.0	64.0	65.0		1820,1859	4.0	1.0	15		65	1,8583	1.2+/-3.3	0,1,4291	no	missense,missense	ZNF280D	NM_001002843.1,NM_017661.2	29,29	0,1,6483	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	607/967,620/980	56958728	1,12967	2192	4292	6484	SO:0001583	missense	0			AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1859G>A	15.37:g.56958728C>T	ENSP00000267807:p.Arg620His		A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R620H	ENST00000267807.7	37	c.1859	CCDS32245.1	15	.	.	.	.	.	.	.	.	.	.	C	6.806	0.517694	0.13005	0.0	1.16E-4	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	T;T	0.03004	4.08;4.51	4.96	3.97	0.46021	.	1.376800	0.05020	N	0.472573	T	0.04363	0.0120	L	0.41236	1.265	0.28326	N	0.922005	B;B	0.33549	0.417;0.417	B;B	0.24848	0.056;0.049	T	0.20472	-1.0274	10	0.36615	T	0.2	-11.449	8.9511	0.35790	0.1491:0.7693:0.0:0.0815	.	683;620	B4DHL1;Q6N043	.;Z280D_HUMAN	H	620;607;324	ENSP00000267807:R620H;ENSP00000379545:R324H	ENSP00000267807:R620H	R	-	2	0	ZNF280D	54746020	0.001000	0.12720	0.990000	0.47175	0.623000	0.37688	0.052000	0.14163	2.450000	0.82876	0.467000	0.42956	CGT	ZNF280D	-	NULL	ENSG00000137871		0.313	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF280D	HGNC	protein_coding	OTTHUMT00000418891.2	-	0.00	59	0	C	XM_370867		56958728	-1	tier1	-	no_errors	ENST00000267807	ensembl	human	known	74_37	missense	48.78	42	40	SNP	0.984	T
ZNF292	23036	genome.wustl.edu	37	6	87969484	87969484	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr6:87969484delA	ENST00000369577.3	+	8	6180	c.6137delA	c.(6136-6138)gaafs	p.E2046fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.E2041fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2046						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S2049fs*11(1)|p.S1904fs*11(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAACTTGTAGAAAAAAAAAGT	0.358																																																	2	Deletion - Frameshift(2)	large_intestine(2)											28.0	26.0	26.0					6																	87969484		1797	4058	5855	SO:0001589	frameshift_variant	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6137delA	6.37:g.87969484delA	ENSP00000358590:p.Glu2046fs		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S2049fs	ENST00000369577.3	37	c.6137	CCDS47457.1	6																																																																																			ZNF292	-	NULL	ENSG00000188994		0.358	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2		0.00	13	0	A	NM_015021		87969484	+1			no_errors	ENST00000369577	ensembl	human	known	74_37	frame_shift_del	44.44	5	4	DEL	1.000	0
ZNF829	374899	genome.wustl.edu	37	19	37383887	37383887	+	Intron	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:37383887C>T	ENST00000391711.3	-	6	684				ZNF829_ENST00000520965.1_Intron|ZNF345_ENST00000432005.2_3'UTR|ZNF345_ENST00000526123.1_Missense_Mutation_p.R72C	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGCACCATGCGTGAGATATT	0.493																																																	0																																										SO:0001627	intron_variant	0			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.320-514G>A	19.37:g.37383887C>T			Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	NULL	p.R72C	ENST00000391711.3	37	c.214	CCDS42557.1	19																																																																																			ZNF345	-	NULL	ENSG00000251247		0.493	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF345	HGNC	protein_coding	OTTHUMT00000109575.3	-	0.00	10	0	C	NM_001037232		37383887	+1	tier1	-	no_errors	ENST00000526123	ensembl	human	putative	74_37	missense	50.00	4	4	SNP	0.000	T
ZNF385D	79750	genome.wustl.edu	37	3	21465453	21465454	+	Splice_Site	INS	-	-	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr3:21465453_21465454insC	ENST00000281523.2	-	7	1473		c.e7+1			NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D							nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AATGACACTCACCCCCAGTGGA	0.46																																																	0																																										SO:0001630	splice_region_variant	0			BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.954+1->G	3.37:g.21465458_21465458dupC				Splice_Site	INS	-	e7+1	ENST00000281523.2	37	c.954+1_954+1	CCDS2636.1	3																																																																																			ZNF385D	-	-	ENSG00000151789		0.460	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385D	HGNC	protein_coding	OTTHUMT00000252884.1		0.00	34	0	-	NM_024697	Intron	21465454	-1	tier1		no_errors	ENST00000281523	ensembl	human	known	74_37	splice_site_ins	32.56	29	14	INS	1.000:1.000	C
ZNF395	55893	genome.wustl.edu	37	8	28217266	28217266	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:28217266C>T	ENST00000344423.5	-	3	447	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	ZNF395_ENST00000523095.1_Missense_Mutation_p.V106I|ZNF395_ENST00000523202.1_Missense_Mutation_p.V106I	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AGCAGCCAGACGGTCACCTGA	0.637																																																	0													85.0	68.0	74.0					8																	28217266		2203	4300	6503	SO:0001583	missense	0			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.316G>A	8.37:g.28217266C>T	ENSP00000340494:p.Val106Ile		B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.V106I	ENST00000344423.5	37	c.316	CCDS6067.1	8	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318547	0.60524	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095;ENST00000521912;ENST00000520290;ENST00000521185	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.5	5.5	0.81552	.	0.169713	0.40640	N	0.001051	T	0.78541	0.4299	L	0.41961	1.31	0.80722	D	1	D	0.53151	0.958	B	0.41236	0.351	T	0.79586	-0.1742	10	0.40728	T	0.16	-29.9022	16.8908	0.86087	0.0:1.0:0.0:0.0	.	106	Q9H8N7	ZN395_HUMAN	I	106	ENSP00000340494:V106I;ENSP00000429640:V106I;ENSP00000428452:V106I;ENSP00000427934:V106I	ENSP00000340494:V106I	V	-	1	0	ZNF395	28273185	0.889000	0.30405	0.157000	0.22605	0.972000	0.66771	2.995000	0.49441	2.594000	0.87642	0.555000	0.69702	GTC	ZNF395	-	NULL	ENSG00000186918		0.637	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF395	HGNC	protein_coding	OTTHUMT00000219976.1		0.00	29	0	C			28217266	-1			no_errors	ENST00000344423	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.366	T
ZNF407	55628	genome.wustl.edu	37	18	72346707	72346707	+	Frame_Shift_Del	DEL	C	C	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:72346707delC	ENST00000299687.5	+	1	3732	c.3732delC	c.(3730-3732)gtcfs	p.V1244fs	ZNF407_ENST00000309902.6_Frame_Shift_Del_p.V1244fs|ZNF407_ENST00000577538.1_Frame_Shift_Del_p.V1244fs|ZNF407_ENST00000582337.1_Frame_Shift_Del_p.V1244fs	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAGGTGTTGTCCCCCACAGAC	0.542																																																	0													52.0	60.0	57.0					18																	72346707		2054	4185	6239	SO:0001589	frameshift_variant	0			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.3732delC	18.37:g.72346707delC	ENSP00000299687:p.Val1244fs		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.H1246fs	ENST00000299687.5	37	c.3732	CCDS45885.1	18																																																																																			ZNF407	-	NULL	ENSG00000215421		0.542	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1		0.00	25	0	C	NM_017757		72346707	+1	tier1		no_errors	ENST00000299687	ensembl	human	known	74_37	frame_shift_del	30.30	23	10	DEL	0.000	-
ZNF425	155054	genome.wustl.edu	37	7	148802071	148802071	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:148802071C>T	ENST00000378061.2	-	4	1024	c.892G>A	c.(892-894)Ggg>Agg	p.G298R		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	298					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGCCGCTCCCCGCGGTGTAGA	0.662																																																	0													42.0	40.0	41.0					7																	148802071		2203	4300	6503	SO:0001583	missense	0			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.892G>A	7.37:g.148802071C>T	ENSP00000367300:p.Gly298Arg		B3KPM1|Q08AG3	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,pfscan_Krueppel-associated_box-rel	p.G298R	ENST00000378061.2	37	c.892	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042567	0.35989	.	.	ENSG00000204947	ENST00000378061	T	0.26223	1.75	3.66	1.68	0.24146	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28267	0.0698	M	0.80982	2.52	0.09310	N	1	P	0.37731	0.607	B	0.33690	0.168	T	0.16958	-1.0385	9	0.72032	D	0.01	.	7.5541	0.27814	0.0:0.7617:0.0:0.2383	.	298	Q6IV72	ZN425_HUMAN	R	298	ENSP00000367300:G298R	ENSP00000367300:G298R	G	-	1	0	ZNF425	148433004	0.000000	0.05858	0.000000	0.03702	0.109000	0.19521	-0.445000	0.06845	0.271000	0.22005	0.655000	0.94253	GGG	ZNF425	-	pfscan_Znf_C2H2	ENSG00000204947		0.662	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	-	0.00	32	0	C	XM_088140		148802071	-1	tier1	-	no_errors	ENST00000378061	ensembl	human	known	74_37	missense	51.28	19	20	SNP	0.012	T
ZNF441	126068	genome.wustl.edu	37	19	11891613	11891613	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:11891613G>T	ENST00000357901.4	+	4	1076	c.974G>T	c.(973-975)aGa>aTa	p.R325I	ZNF441_ENST00000454339.2_Missense_Mutation_p.R258I	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAGTTCGAAGACATAAAAGA	0.413																																																	0													84.0	84.0	84.0					19																	11891613		2203	4300	6503	SO:0001583	missense	0			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.974G>T	19.37:g.11891613G>T	ENSP00000350576:p.Arg325Ile			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.R325I	ENST00000357901.4	37	c.974	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	-	11.77	1.736514	0.30774	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.07567	3.18;3.18	1.18	-2.36	0.06663	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05227	0.0139	L	0.33710	1.025	0.09310	N	0.999999	B	0.17667	0.023	B	0.10450	0.005	T	0.39313	-0.9620	9	0.30078	T	0.28	.	2.6733	0.05074	0.4272:0.0:0.2239:0.3488	.	325	Q8N8Z8	ZN441_HUMAN	I	281;325;258	ENSP00000350576:R325I;ENSP00000403738:R258I	ENSP00000350576:R325I	R	+	2	0	ZNF441	11752613	0.000000	0.05858	0.001000	0.08648	0.939000	0.58152	-10.325000	0.00007	-1.907000	0.01087	0.298000	0.19748	AGA	ZNF441	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197044		0.413	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	-	0.00	71	0	G	NM_152355		11891613	+1	tier1	-	no_errors	ENST00000357901	ensembl	human	known	74_37	missense	6.90	81	6	SNP	0.003	T
ZNF440	126070	genome.wustl.edu	37	19	11941145	11941145	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:11941145G>T	ENST00000304060.5	+	2	215	c.51G>T	c.(49-51)gaG>gaT	p.E17D		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCAGGAGGAGTGGGCTTTGC	0.478																																																	0													128.0	135.0	132.0					19																	11941145		2203	4300	6503	SO:0001583	missense	0			AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.51G>T	19.37:g.11941145G>T	ENSP00000305373:p.Glu17Asp		Q8N1R9	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.E17D	ENST00000304060.5	37	c.51	CCDS42503.1	19	.	.	.	.	.	.	.	.	.	.	g	13.84	2.357886	0.41801	.	.	ENSG00000171295	ENST00000304060;ENST00000427505;ENST00000414255	T;T;T	0.11169	2.8;2.8;2.8	1.74	0.617	0.17619	Krueppel-associated box (4);	.	.	.	.	T	0.43122	0.1233	H	0.97852	4.09	0.25544	N	0.987152	D	0.89917	1.0	D	0.91635	0.999	T	0.21449	-1.0245	9	0.87932	D	0	.	5.8263	0.18556	0.1805:0.0:0.8195:0.0	.	17	Q8IYI8	ZN440_HUMAN	D	17;20;19	ENSP00000305373:E17D;ENSP00000393489:E20D;ENSP00000411974:E19D	ENSP00000305373:E17D	E	+	3	2	ZNF440	11802145	1.000000	0.71417	0.343000	0.25615	0.033000	0.12548	0.262000	0.18460	0.083000	0.17047	-1.054000	0.02325	GAG	ZNF440	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000171295		0.478	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF440	HGNC	protein_coding	OTTHUMT00000344508.1	-	0.00	167	0	G	NM_152357		11941145	+1	tier1	-	no_errors	ENST00000304060	ensembl	human	known	74_37	missense	41.49	110	78	SNP	0.997	T
ZNF461	92283	genome.wustl.edu	37	19	37128585	37128588	+	IGR	DEL	AAAA	AAAA	-	rs377169661		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAAA	AAAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:37128585_37128588delAAAA	ENST00000588268.1	-	0	2584				ZNF461_ENST00000540605.2_5'Flank	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ggtgtgtctcaaaaaaaaaaaaaa	0.402																																																	0																																										SO:0001628	intergenic_variant	0			BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7			19.37:g.37128593_37128596delAAAA			A8K9W9|Q6VSF7|Q9ULZ8	RNA	DEL	-	NULL	ENST00000588268.1	37	NULL	CCDS54257.1	19																																																																																			ZNF461	-	-	ENSG00000197808		0.402	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF461	HGNC	protein_coding	OTTHUMT00000453202.1		0.00	33	0	AAAA	NM_153257		37128588	-1	tier1		no_errors	ENST00000589442	ensembl	human	known	74_37	rna	34.78	15	8	DEL	0.035:0.037:0.040:0.038	-
ZNF469	84627	genome.wustl.edu	37	16	88497681	88497681	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:88497681C>A	ENST00000437464.1	+	2	3719	c.3719C>A	c.(3718-3720)cCg>cAg	p.P1240Q	ZNF469_ENST00000565624.1_Missense_Mutation_p.P1268Q	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	1240	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						CCAGAGCAGCCGCCGCCCAGC	0.672																																																	0													25.0	38.0	34.0					16																	88497681		692	1588	2280	SO:0001583	missense	0			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.3719C>A	16.37:g.88497681C>A	ENSP00000402343:p.Pro1240Gln			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1240Q	ENST00000437464.1	37	c.3719	CCDS45544.1	16	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210491	0.39102	.	.	ENSG00000225614	ENST00000437464	T	0.06068	3.35	3.99	3.99	0.46301	.	.	.	.	.	T	0.10680	0.0261	N	0.14661	0.345	0.09310	N	1	D	0.67145	0.996	P	0.60682	0.878	T	0.26608	-1.0098	9	0.87932	D	0	.	13.1853	0.59677	0.0:1.0:0.0:0.0	.	1240	Q96JG9	ZN469_HUMAN	Q	1240	ENSP00000402343:P1240Q	ENSP00000402343:P1240Q	P	+	2	0	ZNF469	87025182	0.006000	0.16342	0.004000	0.12327	0.085000	0.17905	0.412000	0.21131	1.959000	0.56917	0.491000	0.48974	CCG	ZNF469	-	NULL	ENSG00000225614		0.672	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding		-	0.00	34	0	C	NG_012236		88497681	+1	tier1	-	no_errors	ENST00000437464	ensembl	human	known	74_37	missense	54.17	11	13	SNP	0.008	A
ZNF469	84627	genome.wustl.edu	37	16	88499417	88499417	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:88499417G>A	ENST00000437464.1	+	2	5455	c.5455G>A	c.(5455-5457)Gca>Aca	p.A1819T	ZNF469_ENST00000565624.1_Missense_Mutation_p.A1847T	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	1819					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						CCACCCCACGGCAGGGAGGCC	0.667																																																	0													11.0	12.0	12.0					16																	88499417		692	1587	2279	SO:0001583	missense	0			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.5455G>A	16.37:g.88499417G>A	ENSP00000402343:p.Ala1819Thr			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A1819T	ENST00000437464.1	37	c.5455	CCDS45544.1	16	.	.	.	.	.	.	.	.	.	.	G	8.495	0.862965	0.17178	.	.	ENSG00000225614	ENST00000437464	T	0.07800	3.16	3.88	0.725	0.18242	.	.	.	.	.	T	0.04182	0.0116	N	0.14661	0.345	0.09310	N	1	B	0.25312	0.123	B	0.21360	0.034	T	0.41251	-0.9519	9	0.42905	T	0.14	.	2.5761	0.04807	0.324:0.0:0.4597:0.2163	.	1819	Q96JG9	ZN469_HUMAN	T	1819	ENSP00000402343:A1819T	ENSP00000402343:A1819T	A	+	1	0	ZNF469	87026918	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.124000	0.10595	0.156000	0.19299	-0.470000	0.05040	GCA	ZNF469	-	NULL	ENSG00000225614		0.667	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding		-	0.00	71	0	G	NG_012236		88499417	+1	tier1	-	no_errors	ENST00000437464	ensembl	human	known	74_37	missense	45.45	23	20	SNP	0.000	A
ZNF469	84627	genome.wustl.edu	37	16	88504203	88504203	+	Frame_Shift_Del	DEL	G	G	-	rs199528724	byFrequency	TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:88504203delG	ENST00000437464.1	+	2	10241	c.10241delG	c.(10240-10242)aggfs	p.R3414fs	ZNF469_ENST00000565624.1_Frame_Shift_Del_p.R3442fs	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	3414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R3414T(1)		breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						AAGCACCTCAGGGGGGGGCGG	0.667																																																	1	Substitution - Missense(1)	breast(1)											4.0	5.0	5.0					16																	88504203		675	1551	2226	SO:0001589	frameshift_variant	0			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.10241delG	16.37:g.88504203delG	ENSP00000402343:p.Arg3414fs			Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R3417fs	ENST00000437464.1	37	c.10241	CCDS45544.1	16																																																																																			ZNF469	-	pfscan_Znf_C2H2	ENSG00000225614		0.667	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding			0.00	13	0	G	NG_012236		88504203	+1			no_errors	ENST00000437464	ensembl	human	known	74_37	frame_shift_del	27.27	8	3	DEL	0.002	0
ZNF471	57573	genome.wustl.edu	37	19	57035841	57035841	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:57035841G>A	ENST00000308031.5	+	5	538	c.405G>A	c.(403-405)atG>atA	p.M135I	ZNF471_ENST00000591537.1_Intron|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGAAGCAGATGGGAAGTCATG	0.353																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)												0													73.0	71.0	72.0					19																	57035841		2203	4300	6503	SO:0001583	missense	0			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.405G>A	19.37:g.57035841G>A	ENSP00000309161:p.Met135Ile		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	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.M135I	ENST00000308031.5	37	c.405	CCDS12945.1	19	.	.	.	.	.	.	.	.	.	.	G	2.123	-0.401077	0.04865	.	.	ENSG00000196263	ENST00000308031	T	0.04809	3.55	3.73	1.48	0.22813	.	.	.	.	.	T	0.02688	0.0081	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47142	-0.9140	9	0.26408	T	0.33	.	3.5974	0.08012	0.0969:0.1651:0.5683:0.1697	.	135	Q9BX82	ZN471_HUMAN	I	135	ENSP00000309161:M135I	ENSP00000309161:M135I	M	+	3	0	ZNF471	61727653	0.012000	0.17670	0.001000	0.08648	0.674000	0.39518	0.844000	0.27654	0.346000	0.23899	0.563000	0.77884	ATG	ZNF471	-	NULL	ENSG00000196263		0.353	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF471	HGNC	protein_coding	OTTHUMT00000458405.1	-	0.00	36	0	G	NM_020813		57035841	+1	tier1	-	no_errors	ENST00000308031	ensembl	human	known	74_37	missense	32.56	29	14	SNP	0.001	A
ZNF479	90827	genome.wustl.edu	37	7	57200022	57200022	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:57200022delT	ENST00000331162.4	-	2	280	c.10delA	c.(10-12)agafs	p.R4fs		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGTCCTGGTCTTTTAGCCATA	0.552																																																	0													56.0	55.0	56.0					7																	57200022		2053	4225	6278	SO:0001589	frameshift_variant	0			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.10delA	7.37:g.57200022delT	ENSP00000333776:p.Arg4fs			Frame_Shift_Del	DEL	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.R4fs	ENST00000331162.4	37	c.10	CCDS43590.1	7																																																																																			ZNF479	-	NULL	ENSG00000185177		0.552	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1		0.00	151	0	T	XM_291202		57200022	-1	tier1		no_errors	ENST00000331162	ensembl	human	known	74_37	frame_shift_del	24.48	108	35	DEL	0.094	-
ZNF480	147657	genome.wustl.edu	37	19	52803666	52803666	+	Start_Codon_SNP	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:52803666A>G	ENST00000595962.1	+	2	67	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ZNF480_ENST00000335090.6_5'UTR|ZNF480_ENST00000334564.7_Start_Codon_SNP_p.M1V|ZNF480_ENST00000490272.1_Start_Codon_SNP_p.M1V|CTD-2525I3.6_ENST00000594379.1_RNA|CTD-2525I3.5_ENST00000594865.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	1					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		CTAAAGAGTCATGCTGTGTGA	0.433																																																	0													131.0	104.0	112.0					19																	52803666		692	1591	2283	SO:0001582	initiator_codon_variant	0			AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1A>G	19.37:g.52803666A>G	ENSP00000471754:p.Met1Val		Q5JPG9|Q6P0Q4|Q8N1M5	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.M1V	ENST00000595962.1	37	c.1	CCDS12850.2	19	.	.	.	.	.	.	.	.	.	.	A	4.320	0.058729	0.08339	.	.	ENSG00000198464	ENST00000468240;ENST00000490272;ENST00000334564	T;T	0.05319	3.5;3.46	2.13	-1.57	0.08506	.	.	.	.	.	T	0.04318	0.0119	.	.	.	0.80722	D	1	B;B	0.26041	0.001;0.14	B;B	0.26202	0.001;0.067	T	0.42224	-0.9464	8	0.37606	T	0.19	.	3.769	0.08635	0.3731:0.4712:0.1557:0.0	.	1;1	F8WEZ9;Q8WV37	.;ZN480_HUMAN	V	1	ENSP00000417424:M1V;ENSP00000334164:M1V	ENSP00000334164:M1V	M	+	1	0	ZNF480	57495478	0.011000	0.17503	0.000000	0.03702	0.002000	0.02628	0.387000	0.20718	-0.525000	0.06391	0.454000	0.30748	ATG	ZNF480	-	NULL	ENSG00000198464		0.433	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF480	HGNC	protein_coding	OTTHUMT00000349001.3	-	0.00	148	0	A	NM_144684	Missense_Mutation	52803666	+1	tier1	-	no_errors	ENST00000468240	ensembl	human	known	74_37	missense	36.50	87	50	SNP	0.000	G
ZNF496	84838	genome.wustl.edu	37	1	247464137	247464137	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:247464137C>T	ENST00000294753.4	-	9	1912	c.1448G>A	c.(1447-1449)cGg>cAg	p.R483Q	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Missense_Mutation_p.R519Q	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	483					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CAGGTGTATCCGCCGGTGGGA	0.652																																																	0													52.0	57.0	55.0					1																	247464137		2203	4300	6503	SO:0001583	missense	0			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1448G>A	1.37:g.247464137C>T	ENSP00000294753:p.Arg483Gln		Q8TBS2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R519Q	ENST00000294753.4	37	c.1556	CCDS1631.1	1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100633	0.56183	.	.	ENSG00000162714	ENST00000294753;ENST00000366498	T;T	0.09445	2.98;2.98	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.152547	0.30227	N	0.010116	T	0.26048	0.0635	L	0.48935	1.535	0.22710	N	0.998821	P;D	0.89917	0.897;1.0	B;D	0.87578	0.267;0.998	T	0.01472	-1.1346	10	0.66056	D	0.02	-43.5744	14.5539	0.68086	0.0:1.0:0.0:0.0	.	519;483	Q96IT1-2;Q96IT1	.;ZN496_HUMAN	Q	483;519	ENSP00000294753:R483Q;ENSP00000355454:R519Q	ENSP00000294753:R483Q	R	-	2	0	ZNF496	245530760	0.005000	0.15991	0.441000	0.26858	0.134000	0.20937	1.841000	0.39240	2.352000	0.79861	0.655000	0.94253	CGG	ZNF496	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000162714		0.652	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	-	0.00	45	0	C	NM_032752		247464137	-1	tier1	-	no_errors	ENST00000366498	ensembl	human	known	74_37	missense	24.56	43	14	SNP	0.533	T
ZNF500	26048	genome.wustl.edu	37	16	4802783	4802783	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:4802783G>A	ENST00000219478.6	-	6	1336	c.1037C>T	c.(1036-1038)aCa>aTa	p.T346I	ZNF500_ENST00000591026.1_5'UTR|ZNF500_ENST00000545009.1_Missense_Mutation_p.T346I|RP11-127I20.7_ENST00000588099.1_RNA			O60304	ZN500_HUMAN	zinc finger protein 500	346					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GCCCGTGTGTGTGCGCTGGTG	0.612																																																	0													110.0	93.0	99.0					16																	4802783		2197	4300	6497	SO:0001583	missense	0			AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.1037C>T	16.37:g.4802783G>A	ENSP00000219478:p.Thr346Ile		A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.T346I	ENST00000219478.6	37	c.1037	CCDS32383.1	16	.	.	.	.	.	.	.	.	.	.	G	6.927	0.540787	0.13250	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.12672	2.66;2.66	3.76	2.79	0.32731	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05960	0.0155	N	0.05330	-0.07	0.24723	N	0.993138	B;B	0.21309	0.054;0.054	B;B	0.24155	0.051;0.051	T	0.40590	-0.9555	9	0.02654	T	1	.	8.9455	0.35756	0.1158:0.0:0.8842:0.0	.	346;346	B4DNN9;O60304	.;ZN500_HUMAN	I	346	ENSP00000445714:T346I;ENSP00000219478:T346I	ENSP00000219478:T346I	T	-	2	0	ZNF500	4742784	0.000000	0.05858	0.991000	0.47740	0.918000	0.54935	-0.008000	0.12788	0.564000	0.29238	0.655000	0.94253	ACA	ZNF500	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000103199		0.612	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF500	HGNC	protein_coding	OTTHUMT00000432461.1	-	0.00	93	0	G	XM_085507		4802783	-1	tier1	-	no_errors	ENST00000219478	ensembl	human	known	74_37	missense	30.88	47	21	SNP	0.945	A
ZNF517	340385	genome.wustl.edu	37	8	146033029	146033029	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:146033029G>A	ENST00000531720.1	+	4	773	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000359971.3_Missense_Mutation_p.R243Q			Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	243					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			AAGGCCTTCCGGCAGAGCACG	0.687																																																	0													30.0	28.0	29.0					8																	146033029		2202	4300	6502	SO:0001583	missense	0			AK096527	CCDS6434.1	8q24.3	2013-01-08				ENSG00000197363		"""Zinc fingers, C2H2-type"", ""-"""	27984	protein-coding gene	gene with protein product							Standard	NM_213605		Approved		uc003zed.1	Q6ZMY9		ENST00000531720.1:c.728G>A	8.37:g.146033029G>A	ENSP00000436103:p.Arg243Gln			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.R243Q	ENST00000531720.1	37	c.728	CCDS6434.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.83|13.83	2.353773|2.353773	0.41700|0.41700	.|.	.|.	ENSG00000197363|ENSG00000197363	ENST00000529429|ENST00000359971;ENST00000531720	.|T;T	.|0.04275	.|3.66;3.66	2.7|2.7	1.65|1.65	0.23941|0.23941	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.11110|0.11110	0.0271|0.0271	M|M	0.66939|0.66939	2.045|2.045	0.19575|0.19575	N|N	0.999964|0.999964	.|D	.|0.69078	.|0.997	.|P	.|0.54629	.|0.757	T|T	0.15954|0.15954	-1.0419|-1.0419	5|9	.|0.62326	.|D	.|0.03	.|.	5.2756|5.2756	0.15647|0.15647	0.0:0.1813:0.3361:0.4826|0.0:0.1813:0.3361:0.4826	.|.	.|243	.|Q6ZMY9	.|ZN517_HUMAN	S|Q	210|243	.|ENSP00000353058:R243Q;ENSP00000436103:R243Q	.|ENSP00000353058:R243Q	G|R	+|+	1|2	0|0	ZNF517|ZNF517	146003833|146003833	0.000000|0.000000	0.05858|0.05858	0.989000|0.989000	0.46669|0.46669	0.980000|0.980000	0.70556|0.70556	-0.955000|-0.955000	0.03869|0.03869	0.284000|0.284000	0.22305|0.22305	0.462000|0.462000	0.41574|0.41574	GGC|CGG	ZNF517	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197363		0.687	ZNF517-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF517	HGNC	protein_coding	OTTHUMT00000382642.1	-	0.00	36	0	G	XM_291261		146033029	+1	tier1	-	no_errors	ENST00000359971	ensembl	human	known	74_37	missense	32.65	33	16	SNP	0.926	A
ZNF521	25925	genome.wustl.edu	37	18	22805739	22805739	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:22805739C>T	ENST00000361524.3	-	4	2291	c.2143G>A	c.(2143-2145)Gac>Aac	p.D715N	ZNF521_ENST00000538137.2_Missense_Mutation_p.D715N|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.D495N	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	715					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTGTGCATGTCCAGCAGGTGT	0.448			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													110.0	108.0	109.0					18																	22805739		2203	4300	6503	SO:0001583	missense	0			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2143G>A	18.37:g.22805739C>T	ENSP00000354794:p.Asp715Asn		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D715N	ENST00000361524.3	37	c.2143	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	13.38	2.221239	0.39201	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.75154	-0.91;-0.91	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.80481	0.4631	L	0.27053	0.805	0.51482	D	0.99992	D	0.89917	1.0	D	0.85130	0.997	T	0.76713	-0.2858	10	0.32370	T	0.25	-39.1364	20.8794	0.99867	0.0:1.0:0.0:0.0	.	715	Q96K83	ZN521_HUMAN	N	715;749;715	ENSP00000354794:D715N;ENSP00000382352:D715N	ENSP00000354794:D715N	D	-	1	0	ZNF521	21059737	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAC	ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198795		0.448	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	-	0.00	57	0	C	NM_015461		22805739	-1	tier1	-	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	45.95	20	17	SNP	1.000	T
ZNF532	55205	genome.wustl.edu	37	18	56646399	56646399	+	Splice_Site	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr18:56646399C>T	ENST00000336078.4	+	9	4039	c.3263C>T	c.(3262-3264)tCg>tTg	p.S1088L	ZNF532_ENST00000591808.1_Splice_Site_p.S1088L|ZNF532_ENST00000591083.1_Splice_Site_p.S1088L|ZNF532_ENST00000589288.1_Splice_Site_p.S1088L|ZNF532_ENST00000591230.1_Splice_Site_p.S1088L|ZNF532_ENST00000588956.1_3'UTR	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1088					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TACGCCTGCTCGTAAGTCCTG	0.532																																																	0													85.0	82.0	83.0					18																	56646399		2203	4300	6503	SO:0001630	splice_region_variant	0			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.3263+1C>T	18.37:g.56646399C>T			Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1088L	ENST00000336078.4	37	c.3263	CCDS11969.1	18	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998243	0.35226	.	.	ENSG00000074657	ENST00000336078	T	0.16457	2.34	5.23	5.23	0.72850	Zinc finger, C2H2-like (1);	0.188482	0.47852	D	0.000210	T	0.18045	0.0433	L	0.58354	1.805	0.36887	D	0.889704	B	0.10296	0.003	B	0.04013	0.001	T	0.06826	-1.0805	10	0.27785	T	0.31	-8.8267	11.8605	0.52463	0.0:0.9191:0.0:0.0809	.	1088	Q9HCE3	ZN532_HUMAN	L	1088	ENSP00000338217:S1088L	ENSP00000338217:S1088L	S	+	2	0	ZNF532	54797379	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.997000	0.57016	2.441000	0.82636	0.557000	0.71058	TCG	ZNF532	-	smart_Znf_C2H2-like	ENSG00000074657		0.532	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	-	0.00	10	0	C	NM_018181	Missense_Mutation	56646399	+1	tier1	-	no_errors	ENST00000336078	ensembl	human	known	74_37	missense	43.75	9	7	SNP	1.000	T
ZNF540	163255	genome.wustl.edu	37	19	38103492	38103492	+	Silent	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:38103492A>G	ENST00000592533.1	+	5	1643	c.1311A>G	c.(1309-1311)aaA>aaG	p.K437K	ZNF540_ENST00000589117.1_Silent_p.K405K|ZNF540_ENST00000343599.5_Silent_p.K437K|ZNF540_ENST00000316433.4_Silent_p.K437K	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	437					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGGAGAGAAACCATATGAAT	0.408																																																	0													82.0	80.0	81.0					19																	38103492		2203	4300	6503	SO:0001819	synonymous_variant	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1311A>G	19.37:g.38103492A>G			A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K437	ENST00000592533.1	37	c.1311	CCDS12506.1	19																																																																																			ZNF540	-	pfscan_Znf_C2H2	ENSG00000171817		0.408	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZNF540	HGNC	protein_coding	OTTHUMT00000459481.1	-	0.00	33	0	A	NM_152606		38103492	+1	tier1	-	no_errors	ENST00000316433	ensembl	human	known	74_37	silent	6.85	68	5	SNP	1.000	G
ZNF541	84215	genome.wustl.edu	37	19	48025197	48025197	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:48025197delT	ENST00000391901.3	-	13	3624	c.3625delA	c.(3625-3627)atgfs	p.M1209fs	ZNF541_ENST00000314121.4_Frame_Shift_Del_p.M1228fs|ZNF541_ENST00000448976.1_Frame_Shift_Del_p.M951fs			Q9H0D2	ZN541_HUMAN	zinc finger protein 541	1209	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|lung(2)|prostate(1)|skin(1)	9						AACTTGATCATTTTTTTCCAG	0.507																																																	0													112.0	99.0	103.0					19																	48025197		692	1591	2283	SO:0001589	frameshift_variant	0			AL136846	CCDS46133.1, CCDS46133.2	19q13.33	2013-01-08			ENSG00000118156	ENSG00000118156		"""Zinc fingers, C2H2-type"""	25294	protein-coding gene	gene with protein product						11230166	Standard	NM_001277075		Approved	DKFZp434I1930	uc002phg.5	Q9H0D2	OTTHUMG00000141262	ENST00000391901.3:c.3625delA	19.37:g.48025197delT	ENSP00000375770:p.Met1209fs		Q8NDK8	Frame_Shift_Del	DEL	pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.M1228fs	ENST00000391901.3	37	c.3682		19																																																																																			ZNF541	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000118156		0.507	ZNF541-001	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF541	HGNC	protein_coding	OTTHUMT00000280415.1		0.00	66	0	T	NM_032255		48025197	-1	tier1		no_errors	ENST00000314121	ensembl	human	known	74_37	frame_shift_del	32.26	42	20	DEL	0.998	-
ZNF57	126295	genome.wustl.edu	37	19	2915522	2915522	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:2915522C>T	ENST00000306908.5	+	2	154	c.6C>T	c.(4-6)gaC>gaT	p.D2D	ZNF57_ENST00000523428.1_5'UTR|AC006277.2_ENST00000520090.2_RNA	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCTTAGGACTCAGTGGTCT	0.493																																					NSCLC(150;910 1964 4303 10464 26498)												0													146.0	130.0	135.0					19																	2915522		2203	4300	6503	SO:0001819	synonymous_variant	0			M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.6C>T	19.37:g.2915522C>T			Q8N6R9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D2	ENST00000306908.5	37	c.6	CCDS12098.1	19																																																																																			ZNF57	-	superfamily_Krueppel-associated_box	ENSG00000171970		0.493	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF57	HGNC	protein_coding	OTTHUMT00000378969.1	-	0.00	118	0	C	NM_173480		2915522	+1	tier1	-	no_errors	ENST00000306908	ensembl	human	known	74_37	silent	21.31	96	26	SNP	0.009	T
ZNF552	79818	genome.wustl.edu	37	19	58320156	58320156	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:58320156C>A	ENST00000391701.1	-	3	645	c.476G>T	c.(475-477)aGg>aTg	p.R159M	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552	159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CAACTTACACCTCTTCGCAAA	0.468																																																	0													166.0	159.0	161.0					19																	58320156		2203	4300	6503	SO:0001583	missense	0			AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"""Zinc fingers, C2H2-type"", ""-"""	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.476G>T	19.37:g.58320156C>A	ENSP00000375582:p.Arg159Met		B3KUE9|Q6P5A6	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.R159M	ENST00000391701.1	37	c.476	CCDS12963.1	19	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024728	0.35701	.	.	ENSG00000178935	ENST00000391701	T	0.05447	3.44	1.96	0.862	0.19056	.	.	.	.	.	T	0.12987	0.0315	L	0.36672	1.1	0.09310	N	1	D;D	0.76494	0.999;0.957	D;P	0.77557	0.99;0.719	T	0.16958	-1.0385	9	0.72032	D	0.01	.	6.2205	0.20679	0.0:0.8239:0.0:0.1761	.	155;159	B7Z1H1;Q9H707	.;ZN552_HUMAN	M	159	ENSP00000375582:R159M	ENSP00000375582:R159M	R	-	2	0	ZNF552	63011968	0.000000	0.05858	0.002000	0.10522	0.056000	0.15407	-0.104000	0.10923	0.145000	0.18977	0.205000	0.17691	AGG	ZNF552	-	NULL	ENSG00000178935		0.468	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF552	HGNC	protein_coding	OTTHUMT00000466829.1	-	0.00	146	0	C	NM_024762		58320156	-1	tier1	-	no_errors	ENST00000391701	ensembl	human	known	74_37	missense	39.23	79	51	SNP	0.017	A
ZNF572	137209	genome.wustl.edu	37	8	125987893	125987893	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:125987893delA	ENST00000319286.5	+	2	165	c.11delA	c.(10-12)gaafs	p.E4fs		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	4					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATGGAGCAAGAAAAAAAACTG	0.393										HNSCC(60;0.17)																																							0													114.0	110.0	111.0					8																	125987893		2203	4300	6503	SO:0001589	frameshift_variant	0			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.11delA	8.37:g.125987893delA	ENSP00000319305:p.Glu4fs		A1L4F1|Q8N1Q0	Frame_Shift_Del	DEL	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K6fs	ENST00000319286.5	37	c.11	CCDS6354.1	8																																																																																			ZNF572	-	NULL	ENSG00000180938		0.393	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF572	HGNC	protein_coding	OTTHUMT00000381359.1		0.00	80	0	A	NM_152412		125987893	+1	tier1		no_errors	ENST00000319286	ensembl	human	known	74_37	frame_shift_del	25.62	90	31	DEL	0.002	-
ZNF574	64763	genome.wustl.edu	37	19	42585085	42585085	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:42585085G>A	ENST00000600245.1	+	2	2982	c.2327G>A	c.(2326-2328)cGt>cAt	p.R776H	ZNF574_ENST00000222339.7_Missense_Mutation_p.R866H|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.R776H			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	776					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AAAGCGTTCCGTCAGAGTACC	0.602																																																	0													129.0	124.0	126.0					19																	42585085		2203	4300	6503	SO:0001583	missense	0			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.2327G>A	19.37:g.42585085G>A	ENSP00000469029:p.Arg776His		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R866H	ENST00000600245.1	37	c.2597	CCDS12596.1	19	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483620	0.44147	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.08102	3.13;3.13	5.37	3.25	0.37280	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.05914	0.0154	L	0.37466	1.105	0.42291	D	0.992138	B;B	0.32939	0.238;0.391	B;B	0.24541	0.043;0.054	T	0.42632	-0.9440	10	0.19147	T	0.46	-16.4837	10.3647	0.44017	0.1628:0.0:0.8372:0.0	.	776;865	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	H	866;776;383	ENSP00000222339:R866H;ENSP00000351939:R776H	ENSP00000222339:R866H	R	+	2	0	ZNF574	47276925	0.002000	0.14202	0.902000	0.35471	0.462000	0.32619	0.704000	0.25661	1.267000	0.44247	-0.259000	0.10710	CGT	ZNF574	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105732		0.602	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF574	HGNC	protein_coding	OTTHUMT00000463458.1	-	0.00	25	0	G	NM_022752		42585085	+1	tier1	-	no_errors	ENST00000222339	ensembl	human	known	74_37	missense	25.00	12	4	SNP	0.976	A
ZNF578	147660	genome.wustl.edu	37	19	53005160	53005160	+	Splice_Site	SNP	A	A	G			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:53005160A>G	ENST00000421239.2	+	4	306	c.62A>G	c.(61-63)cAg>cGg	p.Q21R		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	21					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GCTCTTCCTCAGGTGAAGTGA	0.383																																																	0													121.0	121.0	121.0					19																	53005160		2203	4297	6500	SO:0001630	splice_region_variant	0			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.63+1A>G	19.37:g.53005160A>G			B4DR51|I3L1Y6	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.Q21R	ENST00000421239.2	37	c.62	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	11.84	1.759141	0.31137	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.01	-0.0704	0.13748	.	.	.	.	.	T	0.50803	0.1637	L	0.57130	1.785	0.09310	N	1	P	0.42039	0.769	P	0.61397	0.888	T	0.42749	-0.9433	7	.	.	.	.	2.8755	0.05629	0.6876:0.0:0.3124:0.0	.	21	G3V4F6	.	R	21	.	.	Q	+	2	0	ZNF578	57696972	0.189000	0.23263	0.021000	0.16686	0.408000	0.30992	0.465000	0.22004	-0.048000	0.13401	0.246000	0.17985	CAG	ZNF578	-	superfamily_Krueppel-associated_box	ENSG00000258405		0.383	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	-	0.00	112	0	A	NM_152472	Missense_Mutation	53005160	+1	tier1	-	no_errors	ENST00000421239	ensembl	human	known	74_37	missense	28.09	64	25	SNP	0.032	G
ZNF585B	92285	genome.wustl.edu	37	19	37677212	37677212	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:37677212C>T	ENST00000532828.2	-	5	1478	c.1227G>A	c.(1225-1227)tcG>tcA	p.S409S	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Silent_p.S354S|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	409					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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCATATATACGATTTTTCTC	0.418																																					Melanoma(93;882 1454 18863 28917 48427)												0													92.0	89.0	90.0					19																	37677212		2203	4300	6503	SO:0001819	synonymous_variant	0			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1227G>A	19.37:g.37677212C>T			Q8IZD3|Q96JW6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S409	ENST00000532828.2	37	c.1227	CCDS12500.1	19																																																																																			ZNF585B	-	pfscan_Znf_C2H2	ENSG00000245680		0.418	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	HGNC	protein_coding	OTTHUMT00000388272.2	-	0.00	86	0	C	NM_152279		37677212	-1	tier1	-	no_errors	ENST00000532828	ensembl	human	known	74_37	silent	38.32	66	41	SNP	0.006	T
ZNF578	147660	genome.wustl.edu	37	19	53013904	53013904	+	Silent	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:53013904G>A	ENST00000421239.2	+	6	514	c.270G>A	c.(268-270)ttG>ttA	p.L90L	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	90	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CAGGGATGTTGCAAAGACATG	0.368																																																	0													127.0	131.0	130.0					19																	53013904		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.270G>A	19.37:g.53013904G>A			B4DR51|I3L1Y6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L90	ENST00000421239.2	37	c.270	CCDS54310.1	19																																																																																			ZNF578	-	pfscan_Krueppel-associated_box	ENSG00000258405		0.368	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	-	0.00	179	0	G	NM_152472		53013904	+1	tier1	-	no_errors	ENST00000421239	ensembl	human	known	74_37	silent	36.31	100	57	SNP	0.000	A
ZNF587B	100293516	genome.wustl.edu	37	19	58353877	58353877	+	Intron	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:58353877delA	ENST00000442832.4	+	3	1356				ZNF587B_ENST00000316462.4_Intron|ZNF587B_ENST00000594901.1_Frame_Shift_Del_p.E612fs|CTD-2583A14.10_ENST00000598031.1_Intron	NM_001204818.1	NP_001191747.1	E7ETH6	Z587B_HUMAN	zinc finger protein 587B						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										AGTGAATGTGAAAAAAAATTT	0.403																																																	0																																										SO:0001627	intron_variant	0			AK299091	CCDS56109.1	19q13.43	2013-01-08				ENSG00000269343		"""Zinc fingers, C2H2-type"", ""-"""	37142	protein-coding gene	gene with protein product							Standard	NM_001204818		Approved		uc021vcp.1	E7ETH6		ENST00000442832.4:c.1122+713A>-	19.37:g.58353877delA			B4DR41	Frame_Shift_Del	DEL	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.K614fs	ENST00000442832.4	37	c.1835	CCDS56109.1	19																																																																																			ZNF587B	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000269343		0.403	ZNF587B-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	ZNF587B	HGNC	protein_coding	OTTHUMT00000466834.2		0.00	57	0	A	NM_001204818		58353877	+1	tier1		no_errors	ENST00000594901	ensembl	human	novel	74_37	frame_shift_del	36.49	47	27	DEL	0.973	-
ZNF608	57507	genome.wustl.edu	37	5	123972614	123972616	+	3'UTR	DEL	AAA	AAA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr5:123972614_123972616delAAA	ENST00000306315.5	-	0	5951_5953				ZNF608_ENST00000513985.1_5'UTR|ZNF608_ENST00000504926.1_3'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608								metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCattatttaaaaaaaaaaaaa	0.251																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.*979TTT>-	5.37:g.123972623_123972625delAAA			A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	RNA	DEL	-	NULL	ENST00000306315.5	37	NULL	CCDS34219.1	5																																																																																			ZNF608	-	-	ENSG00000168916		0.251	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF608	HGNC	protein_coding	OTTHUMT00000371300.1		0.00	8	0	AAA	XM_114432		123972616	-1	tier1		no_errors	ENST00000513985	ensembl	human	known	74_37	rna	50.00	3	3	DEL	0.200:0.479:0.970	-
ZNF609	23060	genome.wustl.edu	37	15	64967247	64967247	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr15:64967247delA	ENST00000326648.3	+	4	2322	c.2194delA	c.(2194-2196)aaafs	p.K735fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	735	Poly-Lys.					nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K734fs*12(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGAAAGACAAAAAAAAGAA	0.488																																																	1	Deletion - Frameshift(1)	large_intestine(1)											98.0	109.0	105.0					15																	64967247		2203	4299	6502	SO:0001589	frameshift_variant	0			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2194delA	15.37:g.64967247delA	ENSP00000316527:p.Lys735fs		Q0D2I2	Frame_Shift_Del	DEL	pfscan_Znf_C2H2	p.K734fs	ENST00000326648.3	37	c.2194	CCDS32270.1	15																																																																																			ZNF609	-	NULL	ENSG00000180357		0.488	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	HGNC	protein_coding	OTTHUMT00000418130.1		0.00	15	0	A	XM_042833		64967247	+1	tier1		no_errors	ENST00000326648	ensembl	human	known	74_37	frame_shift_del	30.77	18	8	DEL	1.000	-
ZNF618	114991	genome.wustl.edu	37	9	116812464	116812464	+	3'UTR	DEL	A	A	-	rs575961464		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:116812464delA	ENST00000374126.5	+	0	2981				ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						ACTTCGGGGGAAAAAAAAAGA	0.363																																																	0										59,35,3426		1,0,57,0,35,1667	47.0	53.0	51.0			-11.2	0.0	9		52	86,79,7649		1,0,84,0,79,3743	no	utr-3	ZNF618	NM_133374.2		2,0,141,0,114,5410	A1A1,A1A2,A1R,A2A2,A2R,RR		2.1116,2.6705,2.2852			116812464	145,114,11075	1840	4083	5923	SO:0001624	3_prime_UTR_variant	0			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.*17A>-	9.37:g.116812464delA			B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	RNA	DEL	-	NULL	ENST00000374126.5	37	NULL		9																																																																																			ZNF618	-	-	ENSG00000157657		0.363	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF618	HGNC	protein_coding	OTTHUMT00000053749.1		0.00	31	0	A	XM_054983		116812464	+1	tier1		no_errors	ENST00000470105	ensembl	human	known	74_37	rna	29.17	17	7	DEL	0.003	-
ZNF646	9726	genome.wustl.edu	37	16	31091609	31091609	+	Missense_Mutation	SNP	G	G	A	rs374257528		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:31091609G>A	ENST00000394979.2	+	1	4387	c.3964G>A	c.(3964-3966)Gag>Aag	p.E1322K	ZNF646_ENST00000300850.5_Missense_Mutation_p.E1322K			O15015	ZN646_HUMAN	zinc finger protein 646	1322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCGCAGCCACGAGACGGGCCA	0.682																																																	0													38.0	35.0	36.0					16																	31091609		2193	4295	6488	SO:0001583	missense	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3964G>A	16.37:g.31091609G>A	ENSP00000378429:p.Glu1322Lys		Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1322K	ENST00000394979.2	37	c.3964		16	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754043	0.49362	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.28069	1.63;1.63	5.13	3.13	0.36017	.	.	.	.	.	T	0.16514	0.0397	N	0.25245	0.725	0.20563	N	0.999888	B	0.28971	0.229	B	0.20767	0.031	T	0.17776	-1.0358	9	0.31617	T	0.26	-13.0732	4.2034	0.10478	0.255:0.1755:0.5695:0.0	.	1322	O15015-2	.	K	1322	ENSP00000300850:E1322K;ENSP00000378429:E1322K	ENSP00000300850:E1322K	E	+	1	0	ZNF646	30999110	0.001000	0.12720	0.576000	0.28549	0.992000	0.81027	0.732000	0.26072	0.719000	0.32188	0.561000	0.74099	GAG	ZNF646	-	NULL	ENSG00000167395		0.682	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	-	0.00	28	0	G	NM_014699		31091609	+1	tier1	-	no_errors	ENST00000300850	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.514	A
ZNF653	115950	genome.wustl.edu	37	19	11597920	11597920	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:11597920G>T	ENST00000293771.5	-	5	1361	c.1225C>A	c.(1225-1227)Ccg>Acg	p.P409T	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P409T(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						GCCAGCTCCGGGGCTACTGGC	0.617																																					Pancreas(83;980 1446 4542 6441 43352)												1	Substitution - Missense(1)	lung(1)											68.0	76.0	74.0					19																	11597920		2203	4300	6503	SO:0001583	missense	0			AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1225C>A	19.37:g.11597920G>T	ENSP00000293771:p.Pro409Thr		Q96AS7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P409T	ENST00000293771.5	37	c.1225	CCDS12261.1	19	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438572	0.25900	.	.	ENSG00000161914	ENST00000293771	T	0.10573	2.86	4.57	3.51	0.40186	.	0.220250	0.37261	N	0.002172	T	0.06325	0.0163	N	0.14661	0.345	0.24784	N	0.992797	B	0.30326	0.276	B	0.25614	0.062	T	0.32666	-0.9898	10	0.30078	T	0.28	-10.2539	12.0206	0.53342	0.0:0.1749:0.8251:0.0	.	409	Q96CK0	ZN653_HUMAN	T	409	ENSP00000293771:P409T	ENSP00000293771:P409T	P	-	1	0	ZNF653	11458920	0.994000	0.37717	0.859000	0.33776	0.183000	0.23260	1.608000	0.36847	1.021000	0.39600	0.561000	0.74099	CCG	ZNF653	-	NULL	ENSG00000161914		0.617	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF653	HGNC	protein_coding	OTTHUMT00000458836.2	-	0.00	63	0	G	NM_138783		11597920	-1	tier1	-	no_errors	ENST00000293771	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.944	T
ZNF671	79891	genome.wustl.edu	37	19	58238698	58238698	+	Intron	SNP	G	G	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:58238698G>A	ENST00000317398.6	-	1	234				ZNF671_ENST00000596939.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000335820.3_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000594803.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGGGCTGCAGGCACTTTACGA	0.677																																																	0																																										SO:0001627	intron_variant	0				CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.138+60C>T	19.37:g.58238698G>A			A6NF07|Q9H5E9	Missense_Mutation	SNP	NULL	p.P67S	ENST00000317398.6	37	c.199	CCDS12961.1	19																																																																																			ZNF671	-	NULL	ENSG00000083814		0.677	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF671	HGNC	protein_coding	OTTHUMT00000466817.1	-	0.00	43	0	G	NM_024833		58238698	-1	tier1	-	no_errors	ENST00000600125	ensembl	human	known	74_37	missense	54.84	14	17	SNP	0.000	A
ZNF672	79894	genome.wustl.edu	37	1	249142523	249142523	+	Silent	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:249142523C>T	ENST00000306562.3	+	4	1796	c.1050C>T	c.(1048-1050)tgC>tgT	p.C350C		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGTTCACGTGCGTGTCCAATC	0.657																																																	0													42.0	40.0	40.0					1																	249142523		2202	4300	6502	SO:0001819	synonymous_variant	0			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.1050C>T	1.37:g.249142523C>T			Q96H65|Q96IM3|Q9H6G5	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C350	ENST00000306562.3	37	c.1050	CCDS1638.1	1																																																																																			ZNF672	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171161		0.657	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF672	HGNC	protein_coding	OTTHUMT00000097125.2	-	0.00	83	0	C	NM_024836		249142523	+1	tier1	-	no_errors	ENST00000306562	ensembl	human	known	74_37	silent	25.35	53	18	SNP	0.075	T
ZNF680	340252	genome.wustl.edu	37	7	63981718	63981719	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:63981718_63981719insA	ENST00000309683.6	-	4	1564_1565	c.1413_1414insT	c.(1411-1416)tttaacfs	p.N472fs	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GCAGGCCAGTTAAAAACATTGC	0.376																																																	0																																										SO:0001589	frameshift_variant	0			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1414dupT	7.37:g.63981723_63981723dupA	ENSP00000309330:p.Asn472fs		B3KVJ4|Q6ZNF3|Q8NC79	Frame_Shift_Ins	INS	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.N471fs	ENST00000309683.6	37	c.1414_1413	CCDS34644.1	7																																																																																			ZNF680	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173041		0.376	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF680	HGNC	protein_coding	OTTHUMT00000344568.1		0.00	37	0	-	NM_178558		63981719	-1	tier1		no_errors	ENST00000309683	ensembl	human	known	74_37	frame_shift_ins	28.26	33	13	INS	0.986:0.998	A
ZNF687	57592	genome.wustl.edu	37	1	151259034	151259035	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:151259034_151259035delTG	ENST00000368879.2	+	2	365_366	c.267_268delTG	c.(265-270)actgtgfs	p.V90fs		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCAAGAACACTGTGTGTCCCGA	0.614																																																	0																																										SO:0001589	frameshift_variant	0				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.267_268delTG	1.37:g.151259038_151259039delTG	ENSP00000357874:p.Val90fs		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C91fs	ENST00000368879.2	37	c.267_268		1																																																																																			ZNF687	-	NULL	ENSG00000143373		0.614	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	HGNC	protein_coding			0.00	38	0	TG	NM_020832		151259035	+1			no_errors	ENST00000324048	ensembl	human	known	74_37	frame_shift_del	16.22	31	6	DEL	0.998:1.000	0
ZNF699	374879	genome.wustl.edu	37	19	9413157	9413157	+	Silent	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:9413157C>A	ENST00000591998.1	-	3	300	c.72G>T	c.(70-72)gtG>gtT	p.V24V	ZNF699_ENST00000588336.1_5'UTR|ZNF699_ENST00000308650.3_Silent_p.V24V			Q32M78	ZN699_HUMAN	zinc finger protein 699	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGTCCACAGCCACATCCTCAA	0.463																																																	0													100.0	100.0	100.0					19																	9413157		2203	4300	6503	SO:0001819	synonymous_variant	0			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.72G>T	19.37:g.9413157C>A			Q8N9A1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V24	ENST00000591998.1	37	c.72	CCDS42495.1	19																																																																																			ZNF699	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196110		0.463	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF699	HGNC	protein_coding	OTTHUMT00000449010.1	-	0.00	102	0	C	NM_198535		9413157	-1	tier1	-	no_errors	ENST00000308650	ensembl	human	known	74_37	silent	45.28	58	48	SNP	1.000	A
ZNF704	619279	genome.wustl.edu	37	8	81550825	81550826	+	3'UTR	DEL	AA	AA	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr8:81550825_81550826delAA	ENST00000327835.3	-	0	4245_4246					NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704								metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TGCTACGTTTAAAAAAAAAAAA	0.376																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.*2776TT>-	8.37:g.81550835_81550836delAA			B2RNE6|B9EGW6	RNA	DEL	-	NULL	ENST00000327835.3	37	NULL	CCDS34913.1	8																																																																																			ZNF704	-	-	ENSG00000164684		0.376	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF704	HGNC	protein_coding	OTTHUMT00000379964.2		0.00	25	0	AA	NM_001033723		81550826	-1	tier1		no_errors	ENST00000517379	ensembl	human	putative	74_37	rna	37.21	27	16	DEL	0.000:0.000	-
ZNF708	7562	genome.wustl.edu	37	19	21476363	21476363	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:21476363delT	ENST00000356929.3	-	4	1602	c.1405delA	c.(1405-1407)attfs	p.I469fs		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CCAGTATGAATTTTTTTATGA	0.313																																																	0													25.0	28.0	27.0					19																	21476363		2186	4270	6456	SO:0001589	frameshift_variant	0			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1405delA	19.37:g.21476363delT	ENSP00000349401:p.Ile469fs		Q6ZMR0	Frame_Shift_Del	DEL	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.I469fs	ENST00000356929.3	37	c.1405	CCDS32980.1	19																																																																																			ZNF708	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000182141		0.313	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF708	HGNC	protein_coding	OTTHUMT00000463953.1		0.00	41	0	T	NM_021269		21476363	-1	tier1		no_errors	ENST00000356929	ensembl	human	known	74_37	frame_shift_del	34.29	23	12	DEL	0.997	-
ZNF711	7552	genome.wustl.edu	37	X	84520244	84520246	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chrX:84520244_84520246delAAG	ENST00000373165.3	+	6	1205_1207	c.899_901delAAG	c.(898-903)caagaa>caa	p.E302del	ZNF711_ENST00000276123.3_In_Frame_Del_p.E302del|ZNF711_ENST00000395402.1_In_Frame_Del_p.E280del|ZNF711_ENST00000542798.1_In_Frame_Del_p.E98del|ZNF711_ENST00000360700.4_In_Frame_Del_p.E302del	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	302					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GATTCTTCTCAAGAAGAAGATGA	0.404																																																	0																																										SO:0001651	inframe_deletion	0			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.899_901delAAG	X.37:g.84520250_84520252delAAG	ENSP00000362260:p.Glu302del		B4DSV4|Q6NX42|Q9Y4J6	In_Frame_Del	DEL	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E280in_frame_del	ENST00000373165.3	37	c.833_835	CCDS35344.1	X																																																																																			ZNF711	-	pfam_Transcrp_activ_Zfx/Zfy-dom	ENSG00000147180		0.404	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2		0.00	26	0	AAG	NM_021998		84520246	+1	tier1		no_errors	ENST00000395402	ensembl	human	known	74_37	in_frame_del	58.82	7	10	DEL	1.000:0.996:1.000	-
ZNF747	65988	genome.wustl.edu	37	16	30544043	30544043	+	3'UTR	SNP	C	C	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr16:30544043C>T	ENST00000252799.3	-	0	1580				ZNF747_ENST00000569360.1_Missense_Mutation_p.R257H|AC002310.12_ENST00000457283.3_RNA|ZNF747_ENST00000568028.1_Missense_Mutation_p.R257H|ZNF747_ENST00000535210.1_Missense_Mutation_p.R257H|AC002310.12_ENST00000569752.1_RNA|ZNF747_ENST00000395094.3_3'UTR	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						AGTGTGAACGCGCAGGTGAGA	0.687																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.*337G>A	16.37:g.30544043C>T			A8K827|B7WNU3|Q59FB4|Q96NW0	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R257H	ENST00000252799.3	37	c.770	CCDS10682.1	16	.	.	.	.	.	.	.	.	.	.	C	9.915	1.210688	0.22289	.	.	ENSG00000169955	ENST00000535210	T	0.25749	1.78	2.2	1.17	0.20885	.	.	.	.	.	T	0.25531	0.0621	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26121	-1.0112	6	0.87932	D	0	.	4.7242	0.12933	0.0:0.5557:0.0:0.4443	.	.	.	.	H	257	ENSP00000441702:R257H	ENSP00000441702:R257H	R	-	2	0	ZNF747	30451544	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	1.428000	0.34892	0.451000	0.26802	0.313000	0.20887	CGC	ZNF747	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000169955		0.687	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	ZNF747	HGNC	protein_coding	OTTHUMT00000255532.2	-	0.00	87	0	C	NM_023931		30544043	-1	tier1	-	no_errors	ENST00000535210	ensembl	human	known	74_37	missense	48.78	42	40	SNP	0.000	T
ZNF782	158431	genome.wustl.edu	37	9	99581848	99581848	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr9:99581848G>T	ENST00000481138.1	-	6	1118	c.457C>A	c.(457-459)Cca>Aca	p.P153T	ZNF782_ENST00000535338.1_Missense_Mutation_p.P21T|ZNF782_ENST00000466833.1_5'UTR	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	153					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P153T(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGACAGTGTGGGGCCATCAGG	0.433																																																	1	Substitution - Missense(1)	lung(1)											92.0	94.0	93.0					9																	99581848		2203	4300	6503	SO:0001583	missense	0			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.457C>A	9.37:g.99581848G>T	ENSP00000419397:p.Pro153Thr		B2RNR0	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.P153T	ENST00000481138.1	37	c.457	CCDS35075.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.15|12.15	1.851140|1.851140	0.32699|0.32699	.|.	.|.	ENSG00000196597|ENSG00000196597	ENST00000289032|ENST00000481138;ENST00000535338;ENST00000478850	.|T;T;T	.|0.05649	.|3.53;3.41;5.87	3.38|3.38	0.0273|0.0273	0.14154|0.14154	.|.	0.839013|0.839013	0.09725|0.09725	N|N	0.763886|0.763886	T|T	0.04272|0.04272	0.0118|0.0118	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B	.|0.34103	.|0.437	.|B	.|0.32864	.|0.154	T|T	0.46843|0.46843	-0.9162|-0.9162	6|10	.|0.19147	.|T	.|0.46	.|.	6.9443|6.9443	0.24510|0.24510	0.4049:0.0:0.5951:0.0|0.4049:0.0:0.5951:0.0	.|.	.|153	.|Q6ZMW2	.|ZN782_HUMAN	H|T	141|153;21;153	.|ENSP00000419397:P153T;ENSP00000440624:P21T;ENSP00000417577:P153T	.|ENSP00000417577:P153T	P|P	-|-	2|1	0|0	ZNF782|ZNF782	98621669|98621669	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.649000|0.649000	0.38597|0.38597	-0.293000|-0.293000	0.08320|0.08320	0.013000|0.013000	0.14918|0.14918	0.650000|0.650000	0.86243|0.86243	CCC|CCA	ZNF782	-	NULL	ENSG00000196597		0.433	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF782	HGNC	protein_coding	OTTHUMT00000356810.1	-	0.00	89	0	G	NM_001001662		99581848	-1	tier1	-	no_errors	ENST00000481138	ensembl	human	known	74_37	missense	5.95	79	5	SNP	0.002	T
ZNF789	285989	genome.wustl.edu	37	7	99084704	99084705	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:99084704_99084705insA	ENST00000331410.5	+	5	1141_1142	c.871_872insA	c.(871-873)gaafs	p.E291fs	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TAGCAAATGTGAAAAAACGTTT	0.411																																																	0																																										SO:0001589	frameshift_variant	0			AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.877dupA	7.37:g.99084710_99084710dupA	ENSP00000331927:p.Glu291fs		A4D282|A6NH61|Q6ZMZ9	Frame_Shift_Ins	INS	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.T293fs	ENST00000331410.5	37	c.871_872	CCDS34693.1	7																																																																																			ZNF789	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198556		0.411	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF789	HGNC	protein_coding	OTTHUMT00000336266.1		0.00	23	0	-	NM_213603		99084705	+1	tier1		no_errors	ENST00000331410	ensembl	human	known	74_37	frame_shift_ins	33.33	14	7	INS	0.985:0.272	A
ZNF791	163049	genome.wustl.edu	37	19	12738936	12738936	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:12738936G>T	ENST00000343325.4	+	4	755	c.593G>T	c.(592-594)aGt>aTt	p.S198I	ZNF791_ENST00000540038.1_Missense_Mutation_p.S89I|ZNF490_ENST00000465656.1_Intron|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Missense_Mutation_p.S166I	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AAAGCTCTTAGTTGTTCCAGT	0.408																																																	0													64.0	66.0	65.0					19																	12738936		2203	4300	6503	SO:0001583	missense	0			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.593G>T	19.37:g.12738936G>T	ENSP00000342974:p.Ser198Ile		B7Z586|Q8NC99	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.S198I	ENST00000343325.4	37	c.593	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	G	0.743	-0.775803	0.02951	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.05025	3.51;3.51;3.51	1.83	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.17278	0.47	0.09310	N	0.999999	P	0.37864	0.61	B	0.31686	0.134	T	0.44620	-0.9316	9	0.27082	T	0.32	.	9.2247	0.37398	0.0:0.0:1.0:0.0	.	198	Q3KP31	ZN791_HUMAN	I	198;180;166;89	ENSP00000342974:S198I;ENSP00000441761:S166I;ENSP00000441038:S89I	ENSP00000342974:S198I	S	+	2	0	ZNF791	12599936	0.000000	0.05858	0.067000	0.19924	0.531000	0.34715	-0.369000	0.07533	1.007000	0.39238	0.491000	0.48974	AGT	ZNF791	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000173875		0.408	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	-	0.00	67	0	G	NM_153358		12738936	+1	tier1	-	no_errors	ENST00000343325	ensembl	human	known	74_37	missense	6.67	84	6	SNP	0.009	T
ZNF804A	91752	genome.wustl.edu	37	2	185803528	185803528	+	Silent	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:185803528C>A	ENST00000302277.6	+	4	3999	c.3405C>A	c.(3403-3405)atC>atA	p.I1135I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1135							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTTCCCAAATCCCAGCTCTCA	0.542																																																	0													150.0	145.0	147.0					2																	185803528		2203	4300	6503	SO:0001819	synonymous_variant	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3405C>A	2.37:g.185803528C>A			A7E253|Q6ZN26	Silent	SNP	pfam_Znf_C2H2_jaz	p.I1135	ENST00000302277.6	37	c.3405	CCDS2291.1	2																																																																																			ZNF804A	-	NULL	ENSG00000170396		0.542	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0.00	35	0	C	NM_194250		185803528	+1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	silent	53.85	12	14	SNP	0.878	A
ZNF587	84914	genome.wustl.edu	37	19	58361246	58361246	+	5'UTR	SNP	C	C	T	rs548612241		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:58361246C>T	ENST00000339656.5	+	0	22				ZNF587B_ENST00000316462.4_Intron|ZNF587_ENST00000423137.1_5'UTR|ZNF814_ENST00000597652.1_5'UTR|CTD-2583A14.10_ENST00000598031.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		TGTGTATCGGCGATGCGGGTG	0.607													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17645	0.0		0.0	False		,,,				2504	0.0				Pancreas(59;641 1233 1885 20055 50741)												0																																										SO:0001623	5_prime_UTR_variant	0			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.-161C>T	19.37:g.58361246C>T			A0AV72|G3V0H5|Q6ZMK8	RNA	SNP	-	NULL	ENST00000339656.5	37	NULL	CCDS12964.1	19																																																																																			ZNF814	-	-	ENSG00000204514		0.607	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000337594.2	-	0.00	32	0	C	NM_032828		58361246	-1	tier1	-	no_errors	ENST00000597652	ensembl	human	known	74_37	rna	21.05	15	4	SNP	0.000	T
ZNF587	84914	genome.wustl.edu	37	19	58361249	58361249	+	5'UTR	SNP	T	T	C	rs565628771		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:58361249T>C	ENST00000339656.5	+	0	25				ZNF587B_ENST00000316462.4_Intron|ZNF587_ENST00000423137.1_5'UTR|ZNF814_ENST00000597652.1_5'UTR|CTD-2583A14.10_ENST00000598031.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GTATCGGCGATGCGGGTGTTT	0.607													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17420	0.0		0.0	False		,,,				2504	0.0				Pancreas(59;641 1233 1885 20055 50741)												0																																										SO:0001623	5_prime_UTR_variant	0			AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.-158T>C	19.37:g.58361249T>C			A0AV72|G3V0H5|Q6ZMK8	RNA	SNP	-	NULL	ENST00000339656.5	37	NULL	CCDS12964.1	19																																																																																			ZNF814	-	-	ENSG00000204514		0.607	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000337594.2	-	0.00	31	0	T	NM_032828		58361249	-1	tier1	-	no_errors	ENST00000597652	ensembl	human	known	74_37	rna	21.05	15	4	SNP	0.000	C
ZNF831	128611	genome.wustl.edu	37	20	57766219	57766220	+	Frame_Shift_Ins	INS	-	-	C	rs570895195		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:57766219_57766220insC	ENST00000371030.2	+	1	145_146	c.145_146insC	c.(145-147)gccfs	p.A49fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	49	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T52fs*47(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGGGCCTGGCCCCCCCCACT	0.728																																																	1	Insertion - Frameshift(1)	large_intestine(1)								44,3536		1,42,1747						2.3	0.9			18	50,7732		0,50,3841	no	frameshift	ZNF831	NM_178457.1		1,92,5588	A1A1,A1R,RR		0.6425,1.2291,0.8273				94,11268				SO:0001589	frameshift_variant	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.153dupC	20.37:g.57766227_57766227dupC	ENSP00000360069:p.Ala49fs		Q5TDR4|Q8TCP0	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T52fs	ENST00000371030.2	37	c.145_146	CCDS42894.1	20																																																																																			ZNF831	-	NULL	ENSG00000124203		0.728	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2		0.00	44	0	-	NM_178457		57766220	+1	tier1		no_errors	ENST00000371030	ensembl	human	novel	74_37	frame_shift_ins	24.14	22	7	INS	0.658:0.643	C
ZNF831	128611	genome.wustl.edu	37	20	57766219	57766220	+	Frame_Shift_Ins	INS	-	-	CC	rs570895195		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr20:57766219_57766220insCC	ENST00000371030.2	+	1	145_146	c.145_146insCC	c.(145-147)gccfs	p.A49fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	49	Pro-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T52fs*47(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGGGCCTGGCCCCCCCCACT	0.728																																																	1	Insertion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.152_153dupCC	20.37:g.57766226_57766227dupCC	ENSP00000360069:p.Ala49fs		Q5TDR4|Q8TCP0	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T52fs	ENST00000371030.2	37	c.145_146	CCDS42894.1	20																																																																																			ZNF831	-	NULL	ENSG00000124203		0.728	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2		0.00	44	0	-	NM_178457		57766220	+1	tier1		no_errors	ENST00000371030	ensembl	human	novel	74_37	frame_shift_ins	10.34	26	3	INS	0.658:0.643	CC
ZNF836	162962	genome.wustl.edu	37	19	52659253	52659253	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:52659253C>A	ENST00000322146.8	-	5	2204	c.1683G>T	c.(1681-1683)aaG>aaT	p.K561N	ZNF836_ENST00000597252.1_Missense_Mutation_p.K561N|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	561					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AATTGAAGACCTTGCCACACA	0.388																																																	0													170.0	180.0	177.0					19																	52659253		2055	4243	6298	SO:0001583	missense	0			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1683G>T	19.37:g.52659253C>A	ENSP00000325038:p.Lys561Asn			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.K561N	ENST00000322146.8	37	c.1683	CCDS46162.1	19	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665023	0.29604	.	.	ENSG00000196267	ENST00000322146;ENST00000396443	T	0.27890	1.64	2.09	-0.321	0.12717	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.56558	0.1993	M	0.92169	3.28	0.09310	N	1	D	0.67145	0.996	D	0.64144	0.922	T	0.47799	-0.9089	9	0.87932	D	0	.	7.5424	0.27746	0.0:0.6365:0.0:0.3635	.	561	Q6ZNA1	ZN836_HUMAN	N	561;135	ENSP00000325038:K561N	ENSP00000325038:K561N	K	-	3	2	ZNF836	57351065	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	-1.058000	0.03482	-0.318000	0.08665	-0.350000	0.07774	AAG	ZNF836	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196267		0.388	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF836	HGNC	protein_coding	OTTHUMT00000462456.1	-	0.00	68	0	C	NM_001102657		52659253	-1	tier1	-	no_errors	ENST00000322146	ensembl	human	known	74_37	missense	36.49	47	27	SNP	0.122	A
ZNF839	55778	genome.wustl.edu	37	14	102802052	102802052	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr14:102802052delT	ENST00000558850.1	+	5	1538	c.1188delT	c.(1186-1188)cctfs	p.P396fs	ZNF839_ENST00000442396.2_Frame_Shift_Del_p.P512fs|ZNF839_ENST00000262236.5_Frame_Shift_Del_p.P396fs|ZNF839_ENST00000559185.1_Frame_Shift_Del_p.P396fs	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	396							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TAGCAAAGCCTTTTTTCCCAG	0.343																																																	0													58.0	51.0	53.0					14																	102802052		1818	4073	5891	SO:0001589	frameshift_variant	0			AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1188delT	14.37:g.102802052delT	ENSP00000453363:p.Pro396fs		B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Frame_Shift_Del	DEL	pfscan_Znf_C2H2	p.F514fs	ENST00000558850.1	37	c.1536	CCDS58336.1	14																																																																																			ZNF839	-	NULL	ENSG00000022976		0.343	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF839	HGNC	protein_coding	OTTHUMT00000415492.2		0.00	146	0	T	NM_018335		102802052	+1	tier1		no_errors	ENST00000442396	ensembl	human	known	74_37	frame_shift_del	16.67	95	19	DEL	0.519	-
ZNF90	7643	genome.wustl.edu	37	19	20228702	20228702	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:20228702delA	ENST00000418063.2	+	4	451	c.339delA	c.(337-339)ttafs	p.L113fs	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	113					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						ATTTAGAGTTAAAAAAAGGTT	0.363																																																	0													138.0	127.0	130.0					19																	20228702		692	1591	2283	SO:0001589	frameshift_variant	0			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.339delA	19.37:g.20228702delA	ENSP00000410466:p.Leu113fs		B9EH87	Frame_Shift_Del	DEL	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.G116fs	ENST00000418063.2	37	c.339	CCDS46028.1	19																																																																																			ZNF90	-	NULL	ENSG00000213988		0.363	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1		0.00	68	0	A	NM_007138		20228702	+1	tier1		no_errors	ENST00000418063	ensembl	human	known	74_37	frame_shift_del	30.21	67	29	DEL	0.054	-
ZNF91	7644	genome.wustl.edu	37	19	23543033	23543033	+	Silent	SNP	G	G	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:23543033G>T	ENST00000300619.7	-	4	2953	c.2748C>A	c.(2746-2748)ggC>ggA	p.G916G	ZNF91_ENST00000397082.2_Silent_p.G884G|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	916					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAAATGCTTTGCCACATTCTT	0.403																																																	0													59.0	63.0	61.0					19																	23543033		2184	4289	6473	SO:0001819	synonymous_variant	0			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2748C>A	19.37:g.23543033G>T			A8K5E1|B7Z6G6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G916	ENST00000300619.7	37	c.2748	CCDS42541.1	19																																																																																			ZNF91	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167232		0.403	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	-	0.00	32	0	G	NM_003430		23543033	-1	tier1	-	no_errors	ENST00000300619	ensembl	human	known	74_37	silent	48.94	24	23	SNP	0.978	T
ZNHIT1	10467	genome.wustl.edu	37	7	100865942	100865942	+	Missense_Mutation	SNP	G	G	A	rs200966635		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr7:100865942G>A	ENST00000305105.2	+	2	608	c.80G>A	c.(79-81)cGc>cAc	p.R27H	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	27					negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					CGGCAGCGTCGCATCAACCGG	0.642																																																	0													45.0	50.0	48.0					7																	100865942		2203	4300	6503	SO:0001583	missense	0			AF093571	CCDS5716.1	7q22.1	2010-09-15	2010-09-15	2003-08-08	ENSG00000106400	ENSG00000106400		"""Zinc fingers, HIT-type"""	21688	protein-coding gene	gene with protein product	"""putative cyclin G1 interacting protein"""		"""zinc finger protein, subfamily 4A (HIT domain containing), member 1"", ""zinc finger, HIT domain containing 1"""	ZNFN4A1			Standard	NM_006349		Approved	CG1I, H_DJ0747G18.14	uc003uye.3	O43257	OTTHUMG00000157113	ENST00000305105.2:c.80G>A	7.37:g.100865942G>A	ENSP00000304593:p.Arg27His		Q6IB12	Missense_Mutation	SNP	pfam_Znf_HIT,pfscan_Znf_HIT	p.R27H	ENST00000305105.2	37	c.80	CCDS5716.1	7	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235471	0.79800	.	.	ENSG00000106400	ENST00000305105	.	.	.	5.14	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	M	0.78456	2.415	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.63328	-0.6662	9	0.72032	D	0.01	-23.7082	11.6088	0.51047	0.087:0.0:0.913:0.0	.	27	O43257	ZNHI1_HUMAN	H	27	.	ENSP00000304593:R27H	R	+	2	0	ZNHIT1	100652662	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	7.755000	0.85180	1.166000	0.42689	-0.311000	0.09066	CGC	ZNHIT1	-	NULL	ENSG00000106400		0.642	ZNHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNHIT1	HGNC	protein_coding	OTTHUMT00000347488.1	-	0.00	95	0	G	NM_006349		100865942	+1	tier1	rs200966635	no_errors	ENST00000305105	ensembl	human	known	74_37	missense	7.79	71	6	SNP	1.000	A
ZRANB1	54764	genome.wustl.edu	37	10	126673561	126673561	+	Stop_Codon_Del	DEL	A	A	-	rs74898717		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr10:126673561delA	ENST00000359653.4	+	0	2498					NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1						cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.*709fs?(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AAGATGAATGAAAAAAAAAAT	0.448																																																	1	Deletion - Frameshift(1)	ovary(1)								287,34,3943		12,0,263,0,34,1823	26.0	25.0	26.0			4.2	1.0	10	dbSNP_132	26	912,64,7278		43,0,826,0,64,3194	no	codingComplex	ZRANB1	NM_017580.2		55,0,1089,0,98,5017	A1A1,A1A2,A1R,A2A2,A2R,RR		11.8246,7.5281,10.3611			126673561	1199,98,11221	2203	4300	6503	SO:0001567	stop_retained_variant	0			AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	Exception_encountered	10.37:g.126673561delA			B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Frame_Shift_Del	DEL	pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2	p.*709fs	ENST00000359653.4	37	c.2127	CCDS7642.1	10																																																																																			ZRANB1	-	NULL	ENSG00000019995		0.448	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZRANB1	HGNC	protein_coding	OTTHUMT00000050898.1		0.00	24	0	A	NM_017580		126673561	+1	tier1		no_errors	ENST00000359653	ensembl	human	known	74_37	frame_shift_del	33.33	12	6	DEL	0.994	-
ZRANB2	9406	genome.wustl.edu	37	1	71531565	71531566	+	Intron	INS	-	-	T			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:71531565_71531566insT	ENST00000370920.3	-	10	1231				ZRANB2_ENST00000477096.1_5'UTR|ZRANB2-AS1_ENST00000426999.1_RNA|ZRANB2_ENST00000254821.6_Intron|ZRANB2-AS1_ENST00000450461.1_RNA|MIR186_ENST00000384988.1_RNA	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2						mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						AAACAGAGTAATTTTTTTTACA	0.317																																																	0																																										SO:0001627	intron_variant	0			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.930-745->A	1.37:g.71531573_71531573dupT			D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	RNA	INS	-	NULL	ENST00000370920.3	37	NULL	CCDS659.1	1																																																																																			ZRANB2	-	-	ENSG00000132485		0.317	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB2	HGNC	protein_coding	OTTHUMT00000026636.1		0.00	27	0	-	NM_203350		71531566	-1	tier1		no_errors	ENST00000477096	ensembl	human	known	74_37	rna	30.00	21	9	INS	0.999:0.998	T
ZRANB3	84083	genome.wustl.edu	37	2	135982051	135982051	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr2:135982051T>C	ENST00000264159.6	-	15	2311	c.2195A>G	c.(2194-2196)gAc>gGc	p.D732G	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000401392.1_Missense_Mutation_p.D730G|ZRANB3_ENST00000536680.1_Missense_Mutation_p.D730G	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	732					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CATTAAGGTGTCATACACTGG	0.363																																																	0													89.0	84.0	85.0					2																	135982051		1866	4097	5963	SO:0001583	missense	0			AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2195A>G	2.37:g.135982051T>C	ENSP00000264159:p.Asp732Gly		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D732G	ENST00000264159.6	37	c.2195	CCDS46419.1	2	.	.	.	.	.	.	.	.	.	.	T	13.68	2.308518	0.40895	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.91237	-2.81;-2.81;-2.8	5.62	3.26	0.37387	.	0.320112	0.34777	N	0.003691	D	0.87489	0.6190	M	0.68952	2.095	0.27488	N	0.952373	B;B	0.15930	0.009;0.015	B;B	0.18871	0.01;0.023	T	0.80327	-0.1429	10	0.87932	D	0	-15.5137	6.3314	0.21272	0.0:0.1426:0.1337:0.7237	.	732;730	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	G	195;195;730;732;730	ENSP00000383979:D730G;ENSP00000264159:D732G;ENSP00000441320:D730G	ENSP00000264159:D732G	D	-	2	0	ZRANB3	135698521	0.957000	0.32711	0.464000	0.27143	0.954000	0.61252	2.353000	0.44089	0.431000	0.26258	-0.250000	0.11733	GAC	ZRANB3	-	NULL	ENSG00000121988		0.363	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB3	HGNC	protein_coding	OTTHUMT00000318254.1	-	0.00	63	0	T	NM_032143		135982051	-1	tier1	-	no_errors	ENST00000264159	ensembl	human	known	74_37	missense	29.82	40	17	SNP	0.875	C
ZSCAN1	284312	genome.wustl.edu	37	19	58549418	58549418	+	Missense_Mutation	SNP	C	C	T	rs373056173		TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr19:58549418C>T	ENST00000282326.1	+	3	461	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	ZSCAN1_ENST00000391700.1_Missense_Mutation_p.R72C|ZSCAN1_ENST00000601162.1_Missense_Mutation_p.R72C	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	72	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCCCGAGGCGCGCTCCAAGGA	0.701																																																	0								C	CYS/ARG	0,4366		0,0,2183	15.0	15.0	15.0		214	-3.9	0.0	19		15	1,8511		0,1,4255	no	missense	ZSCAN1	NM_182572.3	180	0,1,6438	TT,TC,CC		0.0117,0.0,0.0078	benign	72/409	58549418	1,12877	2183	4256	6439	SO:0001583	missense	0			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.214C>T	19.37:g.58549418C>T	ENSP00000282326:p.Arg72Cys		Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R72C	ENST00000282326.1	37	c.214	CCDS12969.1	19	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663617	0.29515	0.0	1.17E-4	ENSG00000152467	ENST00000391700;ENST00000282326	T;T	0.04654	3.58;3.58	2.09	-3.88	0.04205	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.04003	0.0112	L	0.41961	1.31	0.09310	N	1	B;B	0.25441	0.126;0.012	B;B	0.21708	0.036;0.004	T	0.39418	-0.9615	9	0.72032	D	0.01	.	3.3478	0.07141	0.0:0.3546:0.2136:0.4318	.	72;72	Q8NBB4;Q8NBB4-2	ZSCA1_HUMAN;.	C	72	ENSP00000375581:R72C;ENSP00000282326:R72C	ENSP00000282326:R72C	R	+	1	0	ZSCAN1	63241230	0.000000	0.05858	0.005000	0.12908	0.561000	0.35649	-0.092000	0.11129	-1.058000	0.03197	-0.693000	0.03709	CGC	ZSCAN1	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000152467		0.701	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1	-	0.00	44	0	C	NM_182572		58549418	+1	tier1	-	no_errors	ENST00000282326	ensembl	human	known	74_37	missense	56.82	19	25	SNP	0.001	T
ZYG11A	440590	genome.wustl.edu	37	1	53322739	53322739	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OI-01A-11D-A27G-09	TCGA-L5-A4OI-11A-11D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a040342e-679b-48af-a607-1f1b98eaa24d	078e053e-e15f-4a28-8c24-8a82eb59a338	g.chr1:53322739delA	ENST00000371528.1	+	3	474	c.326delA	c.(325-327)caafs	p.Q109fs	ZYG11A_ENST00000371532.1_Intron	NM_001004339.2	NP_001004339.2	Q6WRX3	ZY11A_HUMAN	zyg-11 family member A, cell cycle regulator	109										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	10						GTCAATATCCAAAAAGCTAAA	0.443																																																	0													50.0	40.0	43.0					1																	53322739		692	1591	2283	SO:0001589	frameshift_variant	0				CCDS44148.1	1p32.3	2013-01-17	2012-12-10		ENSG00000203995	ENSG00000203995		"""ZYG11 cell cycle regulator family"""	32058	protein-coding gene	gene with protein product			"""zyg-11 homolog A (C. elegans)"""				Standard	NM_001004339		Approved	ZYG11	uc001cuk.2	Q6WRX3	OTTHUMG00000008923	ENST00000371528.1:c.326delA	1.37:g.53322739delA	ENSP00000360583:p.Gln109fs		A6NCK5	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.A111fs	ENST00000371528.1	37	c.326	CCDS44148.1	1																																																																																			ZYG11A	-	NULL	ENSG00000203995		0.443	ZYG11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYG11A	HGNC	protein_coding	OTTHUMT00000024856.3		0.00	44	0	A	NM_001004339		53322739	+1	tier1		no_errors	ENST00000371528	ensembl	human	known	74_37	frame_shift_del	28.57	20	8	DEL	0.974	-
